6355410	21	CFTR	Y1032C	\N	ivacaftor responsive	\N	\N	6355409	{}	\N	\N	\N	\N	f
6355378	21	CFTR	S589N	\N	ivacaftor responsive	\N	\N	6355377	{}	\N	\N	\N	\N	f
6355380	21	CFTR	S737F	\N	ivacaftor responsive	\N	\N	6355379	{}	\N	\N	\N	\N	f
778085	359	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
7219571	2	NAT2	*70	\N	\N	\N	\N	7219570	\N	\N	\N	\N	\N	f
7219573	2	NAT2	*71	\N	\N	\N	\N	7219572	\N	\N	\N	\N	\N	f
7219575	2	NAT2	*72	\N	\N	\N	\N	7219574	\N	\N	\N	\N	\N	f
7219577	2	NAT2	*73	\N	\N	\N	\N	7219576	\N	\N	\N	\N	\N	f
7219579	2	NAT2	*74	\N	\N	\N	\N	7219578	\N	\N	\N	\N	\N	f
7219581	2	NAT2	*75	\N	\N	\N	\N	7219580	\N	\N	\N	\N	\N	f
6355368	21	CFTR	R1162L	\N	ivacaftor responsive	\N	\N	6355367	{}	\N	\N	\N	\N	f
6355370	21	CFTR	R1283M	\N	ivacaftor responsive	\N	\N	6355369	{}	\N	\N	\N	\N	f
6355356	21	CFTR	R553Q	\N	ivacaftor responsive	\N	\N	6355355	{}	\N	\N	\N	\N	f
6355358	21	CFTR	R668C	\N	ivacaftor responsive	\N	\N	6355357	{}	\N	\N	\N	\N	f
6355360	21	CFTR	R792G	\N	ivacaftor responsive	\N	\N	6355359	{}	\N	\N	\N	\N	f
6355362	21	CFTR	R933G	\N	ivacaftor responsive	\N	\N	6355361	{}	\N	\N	\N	\N	f
6355386	21	CFTR	S1159F	\N	ivacaftor responsive	\N	\N	6355385	{}	\N	\N	\N	\N	f
6355388	21	CFTR	S1159P	\N	ivacaftor responsive	\N	\N	6355387	{}	\N	\N	\N	\N	f
777479	364	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
777493	364	CYP2B6	*37	Decreased or no function	Decreased function	\N	\N	777492	{23418033,30201214,18171905,24260284}	Limited	\N	CYP2B6*37 (c.516G>T, p.Q172H/splice defect; c.548T>G, p.V183G; c.785A>G, p.K262R) – Decreased function: CYB2B6*37 is assigned decreased function. CYP2B6*37 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). Multiple in vitro studies using cDNA expression systems found that CYP2B6*37 has no enzyme activity with bupropion and efavirenz compared to the *1 reference (23418033, 30201214). However, there was no in vivo data or data for liver microsomes. 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
778159	360	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	155	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
777435	364	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
2899149	153	CYP2B6	*42	Decreased function	Decreased function	\N	\N	2899148	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*42 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1328G>A, p.R443H) – Decreased function: CYP2B6*42 is assigned decreased function. CYP2B6*42 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.R443H 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
777447	364	CYP2B6	*13	No function	No function	\N	\N	777446	{15190123,17559344,20517174,30201214}	Limited	\N	CYP2B6*13 (c.415A>G, p.K139E; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) - No function: CYP2B6*13 is assigned no function. CYP2B6*13 contains the same variants as CYP2B6*6, which is assigned decreased function, and CYP2B6*8 which is assigned no function. Most in vitro studies including those using cDNA expression systems (15190123, 20517174, 30201214) and human liver microsomes (17559344) found that CYP2B6*13 has no enzyme activity; only one in vitro study using a cDNA expression system showed residual activity for artemether metabolism compared to the *1 reference. This discrepancy is probably due to differences in the in vitro expression systems and substrates used. 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
779023	316	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
777453	364	CYP2B6	*17	Normal function	Normal function	\N	\N	777452	{16272958,26655325,30201214,32238417,35538637}	Limited	\N	CYP2B6*17 (c.76A>T, p.T26S; c.83A>G, p.D28G; c.85C>A+c.86G>C, p.R29T) – Normal function: CYP2B6*17 is assigned normal function. A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months found that long term efavirenz exposure was not impacted by the CYP2B6*17 allele (26655325). Additionally, CYP2B6*17 had similar enzyme activity in vitro using cDNA expression systems compared to the *1 reference (16272958, 30201214, 32238417), but decreased activity for methadone (35538637). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was normal function based on limited evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0126, "African American/Afro-Caribbean": 0.071}	f
777473	364	CYP2B6	*27	\N	Uncertain function	\N	\N	777472	{17235330,21746968,30201214}	Inadequate	\N	CYP2B6*27 (c.593T>C, p.M198T) – Uncertain function: CYP2B6*27 is assigned uncertain function. Three in vitro studies using cDNA expression systems found that CYP2B6*27 demonstrated decreased enzyme activity compared to the *1 reference for most substrates, although increased activity was seen for one non-drug probe substrate (21746968, 17235330, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. One subject with the CYP2B6*6/*27 genotype had an elevated efavirenz AUC compared to the *1 reference (17235330). Consensus was not achieved among experts due to insufficient evidence of this variant in human subjects. Therefore, uncertain function was assigned based on inadequate evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.008, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.006, "African American/Afro-Caribbean": null}	f
2899145	153	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
3318600	121	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
777575	364	CYP2C19	*24	\N	No function	\N	\N	777574	{25001882,27578295,31713493}	Limited	\N	CYP2C19*24 is assigned no function based on limited evidence. In vitro studies found CYP2C19*24 demonstrated nondetectable enzyme activity compared to wildtype with mephenytoin, clopidogrel, and omeprazole substrates (25001882, 27578295, 31713493). Additionally, CYP2C19*24 had less holoprotein compared to wildtype suggesting the protein is less stable resulting in little to no enzyme activity (27578295). 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": null, "Oceanian": null, "East Asian": 0.00018712576, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777953	360	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	202	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	155	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
2899147	153	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
1002692	336	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	336	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	325	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
777563	364	CYP2C19	*16	\N	Decreased function	\N	\N	777562	{15499191,21325430,25001882,21692664}	Limited	\N	CYP2C19*16 is assigned normal function based on limited evidence. A subject with CYP2C19 *2/*16 genotype demonstrated decreased mephobarbital excretion compared to heterozygous CYP2C19 *2 or CYP2C19*3 subjects but greater mephobarbital excretion compared to subjects carrying two no function alleles based on urine metabolites after a 200mg dose (15499191). Two in vitro studies using different cell systems found CYP2C19*16 had nondetectable or decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (25001882, 21325430). Another study found CYP2C19*16 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": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779505	342	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	30	CYP2D6	*176	\N	\N	\N	\N	5409119	\N	\N	\N	\N	\N	f
777265	364	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
777455	364	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
777547	364	CYP2C19	*8	\N	No function	\N	\N	777546	{10411572,21325430,25001882,21692664}	Limited	\N	CYP2C19*8 is assigned no function based on limited evidence in a heterozygous subject and in vitro studies. CYP2C19*8 was first described in a subject demonstrating decreased metabolism of mephenytoin based on urine metabolite concentrations. This correlated with an in vitro study which found CYP2C19*8 had decreased enzyme activity compared to wildtype with mephenytoin and tolbutamide substrates (10411572). Two additional in vitro studies using different cell systems found CYP2C19*8 had nondetectable enzyme activity with mephenytoin, omeprazole, and clopidogrel substrates (21325430, 25001882). Another study found CYP2C19*8 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates and distinct function from other decreased function alleles (21692664). 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": 0.0012738854, "American": 0.0, "European": 0.0033593778, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0011203007}	f
777263	224	CACNA1S	Reference	\N	Normal function	\N	\N	777262	{}	\N	\N	\N	\N	f
777805	346	CYP2C9	*69	Uncertain function	Uncertain function	\N	n/a	777804	{33536773}	Inadequate evidence	\N	CYP2C9*69 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variant present in CYP2C9*69 is predicted to be deleterious in both SIFT and 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
777983	360	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	364	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
2899143	153	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
777777	364	CYP2C9	*55	Decreased function	Decreased function	\N	0.5	777776	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Limited	\N	CYP2C9*55 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*55 demonstrated decreased clearance compared to wildtype (24077631, 24118918, 25144335, 25476996, 25832633, 25951663, 25924705, 27163851, 23844998). Although two in vitro studies showed CYP2C9*55 had similar or increased activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*3 which definitively has no function, demonstrated increased or similar 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 limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0104, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777755	364	CYP2C9	*44	Decreased function	Decreased function	\N	0.5	777754	{24077631,24118918,25142737,25144335,25476996,25832633,25951663,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*44 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*44 demonstrated decreased clearance compared to wildtype (24118918, 25476996, 25144335, 25832633, 25951663, 25884291, 25924705, 23844998, 24077631). Although two in vitro studies showed CYP2C9*44 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, 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": 0.00030, "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
777763	364	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
777789	364	CYP2C9	*61	Decreased function	Decreased function	\N	0.5	777788	{30518301}	Limited	\N	CYP2C9*61 is assigned decreased function based on limited evidence in a heterozygous patient. CYP2C9*61 was first described in a patient requiring a low daily warfarin dose of 3mg (30518301). CYP2C9*61 is defined by two SNPs, one of which is the defining SNP for CYP2C9*2. Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the function of this allele is similar to CYP2C9*2 and 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
777310	222	CFTR	2789+5G->A	\N	ivacaftor responsive	\N	\N	777309	{}	\N	ACMG screening panel	\N	\N	f
777595	364	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
777677	364	CYP2C9	*5	Decreased function	Decreased function	\N	0.5	777676	{23752738,15289788,11455026,16220110,17504998,21811894,11901091}	Strong	\N	CYP2C9*5 is assigned decreased function based on strong evidence in heterozygous patients and in vitro studies. Three subjects carrying the CYP2C9*5 allele (CYP2C9*1/*5, CYP2C9*5/*6, CYP2C9*5/*8 genotype) had decreased losartan metabolism compared to wildtype based on urinary metabolites after a single 25mg dose (15289788). Two CYP2C9 *1/*5 subjects, one CYP2C9 *5/*6 subject, and one CYP2C9*5/*8 subject had lower phenytoin metabolism compared to wildtype based on urinary excretion of a phenytoin metabolite after a single 300mg dose. Additionally, the CYP2C9 *5/*6 subject demonstrated the lowest phenytoin metabolism as the only subject of the 109 subject cohort to have a urinary metabolite concentration below the limit of quantification (16220110). One CYP2C9 *5/*8 demonstrated the lowest acenocoumarol metabolism based on plasma concentrations in a 36 subject cohort (21811894). One CYP2C9*1/*5 subject demonstrated decreased indisulam metabolism with an AUC nearly two times greater than wildtype subjects (17504998). These results correlated with in vitro pharmacokinetic studies which demonstrated decreased clearance of warfarin, diclofenac, flurbiprofen, naproxen, and piroxicam compared to wildtype (11455026, 11901091). A separate in vitro study found CYP2C9*5 has decreased enzyme activity compared to wildtype with warfarin and tolbutamide substrates that (23752738). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on strong evidence.	{"Latino": 0.00871987, "American": 0.0014913112, "European": 0.00017448276, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.00052266667, "Central/South Asian": 0.0, "Sub-Saharan African": 0.010325842, "African American/Afro-Caribbean": 0.011626912}	f
777753	364	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
1103380	266	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	20	CYP2D6	*178	\N	\N	\N	\N	5998158	\N	\N	\N	\N	\N	f
5998161	20	CYP2D6	*179	\N	\N	\N	\N	5998160	\N	\N	\N	\N	\N	f
5998163	20	CYP2D6	*180	\N	\N	\N	\N	5998162	\N	\N	\N	\N	\N	f
5998165	20	CYP2D6	*181	\N	\N	\N	\N	5998164	\N	\N	\N	\N	\N	f
5998167	20	CYP2D6	*182	\N	\N	\N	\N	5998166	\N	\N	\N	\N	\N	f
5998169	20	CYP2D6	*183	\N	\N	\N	\N	5998168	\N	\N	\N	\N	\N	f
5998171	20	CYP2D6	*184	\N	\N	\N	\N	5998170	\N	\N	\N	\N	\N	f
5998173	20	CYP2D6	*185	\N	\N	\N	\N	5998172	\N	\N	\N	\N	\N	f
3318602	121	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	18	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
777699	364	CYP2C9	*16	Decreased function	Decreased function	\N	0.5	777698	{16099926,24077631,24118918,24464553,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*16 is assigned decreased function based on limited evidence in a heterozygous patient and in vitro studies. One subject with CYP2C9*1/*16 genotype exhibited decreased clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose. This result correlated with the in vitro study where CYP2C9*16 demonstrated similar enzyme expression but 3.4% enzyme activity with a tolbutamide substrate compared to wildtype (25614704). Multiple in vitro studies similarly found CYP2C9*16 demonstrated decreased clearance with various substrates compared to wildtype (16099926, 24077631, 24118918, 24464553, 25951663, 25144335, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998). Although one in vitro study showed CYP2C9*16 had similar activity compared to wildtype, the experts did not find this result convincing as in this study CYP2C9*2 and CYP2C9*3 which definitively have decreased function and no function, respectively, demonstrated increased activity compared to wildtype (25142737). 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": 0.001877621, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778763	316	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	316	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
777737	364	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
1103378	266	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	18	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	360	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
778001	360	CYP2D6	*34	\N	Normal function	\N	1.0	778000	{24647041,30366777}	Limited	\N	CYP2D6*34 is assigned normal function based on limited evidence. CYP2D6*34 is defined by a common SNP found in more than 50 different CYP2D6 alleles including CYP2D6*2 which is assigned normal function. An in vitro study found CYP2D6*34 had similar enzyme activity compared to wildtype with dextromethorphan and bufuralol substrates (24647041). Although CYP2D6*34 demonstrated decreased enzyme activity with other substrates (24647041, 30366777), the experts did not find this result convincing that the magnitude of decreased activity was clinically significant. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": 0.00050, "American": 0.0, "European": 0.010744718, "Oceanian": 0.0018, "East Asian": 0.008890849, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
779747	298	CYP2D6	*45x2	\N	Increased function	\N	2.0	778022	{15768052,24647041}	Limited	\N	CYP2D6*45x2 is assigned increased function based on limited evidence. CYP2D6*45 is assigned normal function (15768052; 24647041). Therefore, consensus among experts was increased function with an activity value of 2 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 distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "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": 0.0010954796}	f
778201	266	CYP2D6	*141	\N	Uncertain function	\N	n/a	778200	{}	Inadequate	\N	CYP2D6*141 is assigned uncertain function due to the presence of variants found in other alleles known to cause decreased (*17) or no function (*36); there is no literature describing the combined effect of the variants found in this 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
777955	360	CYP2D6	*10	\N	Decreased function	\N	0.25	777954	{8764380,11266079,18784265,8287064,24647041,25469868,26310775,26542054,26652007,26937172,26968424,27203132,27251229,27354764,27538917,19364831,30366777,31647186}	Strong	\N	CYP2D6*10 is assigned decreased function based on strong evidence. CYP2D6*10 has consistently been described in subjects demonstrating decreased metabolism of various CYP2D6 substrates, with metabolic ratios greater than those observed in wildtype subjects but less than poor metabolizers (8764380, 8287064, 19364831). In vitro studies using different cell systems similarly found CYP2D6*10 demonstrates decreased intrinsic clearance compared to wildtype with various substrates (27538917, 27354764, 27251229, 27203132, 26968424, 26937172, 26652007, 26542054, 26310775, 25469868, 30366777, 24647041, 11266079, 18784265). As part of the standardization of CYP2D6 genotype to phenotype translation among CPIC and the Dutch Pharmacogenetics Working Group, CYP2D6*10 was reevaluated as the evidence suggests the activity of the CYP2D6*10 is considerably lower compared to other decreased function alleles and the activity value of 0.5 (previously assigned) may overestimate metabolic capacity of patients with this allele (31647186). Therefore, consensus among experts was decreased function with an activity value of 0.25 based on strong evidence.	{"Latino": 0.026291614, "American": 0.014500251, "European": 0.01571283, "Oceanian": 0.05713253, "East Asian": 0.4284454, "Near Eastern": 0.06769364, "Central/South Asian": 0.07559443, "Sub-Saharan African": 0.048626088, "African American/Afro-Caribbean": 0.038160447}	f
778137	359	CYP2D6	*109	\N	Decreased function	\N	0.25	778136	{11470994,1844820,8101460,11266079,24647041,30366777}	Limited	\N	CYP2D6*109 is assigned decreased function based on limited evidence. *109 has the 2616delAAG (also present in *9 with decreased function-PMID 1844820; 8101460; 11266079; 24647041; 30366777) and 3184G>A (V338M) which is a core SNP of *29. One study compared activity of V338M vs that of V136I (both present in *29) and found that both decrease activity in vitro (PMID 11470994). Because both variants have been shown to have decreased function in vitro, consensus of the experts was decreased function with 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
778149	359	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
778153	359	CYP2D6	*117	\N	Unknown function	\N	n/a	778152	{}	No Evidence	\N	CYP2D6*117 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": 0.004, "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
778157	359	CYP2D6	*119	\N	Decreased function	\N	0.25	778156	{11037799,15289790,17001295,17112815,19364831}	Limited	\N	CYP2D6*119 is assigned decreased function wiht an activity value of 0.25 due to limited evidence describing function of this allele. *119 contains the splice SNP 2989G>A that is also found in *41 (decreased function; 11037799; 15289790; 17001295; 17112815; 19364831). Therefore, consensus among experts was decreased function due to limited evidence.	{"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
2091243	264	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	264	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	6	SLCO1B1	*55	\N	\N	\N	\N	6970385	\N	\N	\N	\N	\N	f
6970388	6	SLCO1B1	*56	\N	\N	\N	\N	6970387	\N	\N	\N	\N	\N	f
6970390	6	SLCO1B1	*57	\N	\N	\N	\N	6970389	\N	\N	\N	\N	\N	f
6970392	6	SLCO1B1	*58	\N	\N	\N	\N	6970391	\N	\N	\N	\N	\N	f
777352	222	CFTR	G551S	\N	ivacaftor responsive	\N	\N	777351	{}	\N	\N	\N	\N	f
777354	222	CFTR	K1060T	\N	ivacaftor responsive	\N	\N	777353	{}	\N	\N	\N	\N	f
777360	222	CFTR	R1070Q	\N	ivacaftor responsive	\N	\N	777359	{}	\N	\N	\N	\N	f
777362	222	CFTR	R1070W	\N	ivacaftor responsive	\N	\N	777361	{}	\N	\N	\N	\N	f
777380	222	CFTR	S549R(A>C)	\N	ivacaftor responsive	\N	\N	777379	{}	\N	\N	\N	\N	f
778023	360	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
778179	359	CYP2D6	*130	\N	Uncertain function	\N	n/a	778178	{32759992}	Inadequate	\N	CYP2D6*130 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.2% compared to *1 for tamoxifen N-desmethylation; no activity was detectable for dextromethorphan O-demethylation (32759992). 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
778185	359	CYP2D6	*133	\N	Uncertain function	\N	n/a	778184	{32759992}	Inadequate	\N	CYP2D6*133 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substabtially decreased intrinsic clearance CLint (Vmax/Km) of 2.5% and 4.5% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively. 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
778199	266	CYP2D6	*140	\N	Unknown function	\N	n/a	778198	{}	No Evidence	\N	CYP2D6*140 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
2091241	264	CYP2D6	*154	\N	Uncertain function	\N	n/a	2091240	{}	Inadequate	\N	CYP2D6*154 is assigned uncertain function due to inadequate evidence. CYP2D6*154 is defined by the three SNPs defining the decreased function *17 allele and one additional SNP that defines *75 which is classified as uncertain function.	{"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
778195	360	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
777312	222	CFTR	3272-26A->G	\N	ivacaftor responsive	\N	\N	777311	{}	\N	\N	\N	\N	f
777314	222	CFTR	3849+10kbC->T	\N	ivacaftor responsive	\N	\N	777313	{}	\N	ACMG screening panel	\N	\N	f
777318	222	CFTR	A1067T	\N	ivacaftor responsive	\N	\N	777317	{}	\N	\N	\N	\N	f
777320	222	CFTR	A455E	\N	ivacaftor responsive	\N	\N	777319	{}	\N	ACMG screening panel	\N	\N	f
777326	222	CFTR	D1152H	\N	ivacaftor responsive	\N	\N	777325	{}	\N	\N	\N	\N	f
777328	222	CFTR	D1270N	\N	ivacaftor responsive	\N	\N	777327	{}	\N	\N	\N	\N	f
777330	222	CFTR	D579G	\N	ivacaftor responsive	\N	\N	777329	{}	\N	\N	\N	\N	f
777336	222	CFTR	E831X	\N	ivacaftor responsive	\N	\N	777335	{}	\N	\N	\N	\N	f
777338	222	CFTR	F1052V	\N	ivacaftor responsive	\N	\N	777337	{}	\N	\N	\N	\N	f
777340	222	CFTR	F1074L	\N	ivacaftor responsive	\N	\N	777339	{}	\N	\N	\N	\N	f
777342	222	CFTR	G1069R	\N	ivacaftor responsive	\N	\N	777341	{}	\N	\N	\N	\N	f
777344	222	CFTR	G1244E	\N	ivacaftor responsive	\N	\N	777343	{}	\N	\N	\N	\N	f
777346	222	CFTR	G1349D	\N	ivacaftor responsive	\N	\N	777345	{}	\N	\N	\N	\N	f
777350	222	CFTR	G551D	\N	ivacaftor responsive	\N	\N	777349	{}	\N	ACMG screening panel	\N	\N	f
777991	360	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
778009	360	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
778013	360	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
778021	360	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
778077	359	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
778117	360	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
7221373	2	CYP2D6	*13+*1	\N	Normal function	\N	1.0	7221372	{}	\N	\N	\N	{"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	364	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
7221374	2	CYP2D6	*13+*1x2	\N	Increased function	\N	2.0	7221372	{}	\N	\N	\N	{"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
778011	360	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
778073	360	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
7221376	2	CYP2D6	*13+*2	\N	Normal function	\N	1.0	7221375	{}	\N	\N	\N	{"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
7221378	2	CYP2D6	*13+*68x2+*4	\N	No function	\N	0.0	7221377	{}	\N	\N	\N	{"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
7221371	2	CYP2D6	*36+*10	\N	Decreased function	\N	0.25	7221370	{}	\N	\N	\N	{"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
7221381	2	CYP2D6	*36+*10x2	\N	Decreased function	\N	0.5	7221370	{}	\N	\N	\N	{"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
7221380	2	CYP2D6	*36x2+*10	\N	Decreased function	\N	0.25	7221379	{}	\N	\N	\N	{"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
7221384	2	CYP2D6	*36x2+*10x2	\N	Decreased function	\N	0.5	7221379	{}	\N	\N	\N	{"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
7221383	2	CYP2D6	*68+*2	\N	Normal function	\N	1.0	7221382	{}	\N	\N	\N	{"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
7221369	2	CYP2D6	*68+*4	\N	No function	\N	0.0	7221368	{}	\N	\N	\N	{"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
779021	316	G6PD	Yunan	Uncertain function	Uncertain function	\N	\N	779020	{22293322,11780463}	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
778667	317	G6PD	B (reference)	IV/Normal	IV/Normal	\N	\N	778666	{22293322,2572288}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.9772377, "European": 0.99463695, "East Asian": 0.97378683, "Central/South Asian": 0.9557555, "African American/Afro-Caribbean": 0.55657554}	t
777477	364	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
778939	316	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778938	{22293322,7440223,2307454,9192788}	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
778817	316	G6PD	Cincinnati	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778816	{22293322,20949590}	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
778805	316	G6PD	Coimbra Shunde	II/Deficient	II/Deficient	\N	\N	778804	{22293322,1551674,8471773}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000010230493, "East Asian": 0.00007214487, "Central/South Asian": 0.00020966558, "African American/Afro-Caribbean": 0.0}	f
778891	316	G6PD	Insuli	IV/Normal	IV/Normal	\N	\N	778890	{22293322,12737940}	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
778821	316	G6PD	Radlowo	II/Deficient	II/Deficient	\N	\N	778820	{22293322,10571945}	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
3564277	167	G6PD	Telti, Kobe	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	3564276	{22293322,7327562}	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
778947	316	G6PD	Wisconsin	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778946	{22293322,16934959,7655862}	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
778825	316	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
778863	316	G6PD	Papua	Uncertain	Uncertain function	\N	\N	778862	{22293322,9410474}	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
777535	364	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
5997309	20	CYP2B6	*50	\N	\N	\N	\N	5997308	\N	\N	\N	\N	\N	f
778683	316	G6PD	Rignano	III/Deficient	III/Deficient	\N	\N	778682	{22293322,17524386}	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
779097	123	NUDT15	*17	\N	\N	\N	\N	779096	\N	\N	\N	\N	\N	f
777589	364	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
779005	316	G6PD	Figuera da Foz	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779004	{22293322,18056001}	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
778689	316	G6PD	Kambos	III/Deficient	III/Deficient	\N	\N	778688	{22293322,15223006}	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
778945	316	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	316	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	316	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
778903	316	G6PD	Mira d'Aire	IV/Normal	IV/Normal	\N	\N	778902	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00060634164, "European": 0.000009038323, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.00037544584}	f
777459	364	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
778921	316	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
7094209	9	MT-RNR1	m.930G>A	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	7094208	{18830133}	Inadequate evidence	\N	MT-RNR1 930G>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 one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence. While PMID 18830133 states that "..., 11 of the 151 sequences demonstrated an A > G transition at base position 930. Two of these patients had moderate-to-severe hearing loss." Table 3 of the article shows the G allele as the Human consensus and the 11 subjects as having the A allele. Furthermore, the guideline authors have reviewed institutional sample data and confirmed that the G allele is the reference allele. Therefore the variant is referenced as m.930G>A as of October 2025.	{"European": 0.0432228, "East Asian": 0.004054, "Near Eastern": 0.03408011, "Central/South Asian": 0.007368, "Sub-Saharan African": null}	f
3827917	137	MT-RNR1	m.1555A>G	Conformational change to the mitochondrial 12s rRNA leading to binding of aminoglycoside antibiotics	increased risk of aminoglycoside-induced hearing loss	\N	\N	3827916	{7689389,8285309,8414970,9039999,9040738,9111378,9164619,9391883,9490575,9779807,9831149,9950117,10633132,10661905,11174959,11857751,11870684,12031626,12920080,14699607,14755216,15708009,15841390,15917167,16168391,16375862,16458854,16935512,16955413,17341440,17637808,17723226,17999439,18386806,18790089,18820594,18830133,19376484,19818876,19835846,20100600,20111055,20353758,21162657,21205314,21504270,22475488,23256547,24252789,25744662,26497601,27397648,27427311,29805548,24703164,25155176,8687424,9315872,12127547,19687236,28103015,10915767,12054632,21828074}	Definitive	\N	MT-RNR1 1555A>G is assigned an increased risk of aminoglycoside-induced hearing loss based on definitive evidence. Screening of individuals or probands of individuals with aminoglycoside-hearing loss identified 1494C>T in a number of cases (7689389, 8285309, 8414970, 9039999, 9040738, 9111378, 9164619, 9391883, 9490575, 9779807, 9831149, 9950117, 10633132, 10661905, 11174959, 11857751, 11870684, 12031626, 12920080, 14699607, 14755216, 15708009, 15841390, 15917167, 16168391, 16375862, 16458854, 16935512, 16955413, 17341440, 17637808, 17723226, 17999439, 18386806, 18790089, 18820594, 18830133, 19376484, 19818876, 19835846, 20100600, 20111055, 20353758, 21162657, 21205314, 21504270, 22475488, 23256547, 24252789, 25744662, 26497601, 27397648, 27427311, 29805548, 24703164, 25155176). There is inhibiton of translation in fibroblasts and cybrid cell lines with 1555A>G mutation (8687424). Aminoglycosides bind to 12S rRNA carrying the G allele, but not to rRNA with the A allele (9315872, 12127547, 19687236, 28103015). LCLs with the 1555A>G mutation have reduced growth and translation when grown in paromomycin (10915767). No effect of 1555A>G mutation in fibroblast lines. Cybrids with 1555A>G had slower growth in neomycin or paromomycin (12054632, 21828074). Therefore, consensus among experts was this variant is associated with increased risk of aminoglycoside-induced hearing loss based on definitive evidence.	{"European": 0.0011348277, "East Asian": 0.018102558, "Near Eastern": 0.0014195286, "Central/South Asian": 0.0011089911, "Sub-Saharan African": 0.0030045942}	f
778669	316	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
3827885	137	MT-RNR1	m.827A>G	\N	normal risk of aminoglycoside-induced hearing loss	\N	\N	3827884	{16782057,18261986,18830133,20353758}	Limited	\N	MT-RNR1 827A>G is assigned a normal risk of aminoglycoside-induced hearing loss based on limited evidence. There are weak evidence proposing an association with aminoglycoside-induced hearing loss (16782057, 18261986, 20353758). However, there is one study showing patients with 827A>G mutation with a history of exposure to aminoglycosides with normal hearing (18830133) and this variant has too high a population frequency in certain haplogroups to be classified as associated with aminoglycoside-induced hearing loss. Therefore, consensus among experts was this variant is associated with normal risk of aminoglycoside-induced hearing loss based on limited evidence.	{"European": 0.0017502992, "East Asian": 0.035319928, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0}	f
777569	364	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
778971	316	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	316	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	316	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	316	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	123	NUDT15	*20	\N	\N	\N	\N	779102	\N	\N	\N	\N	\N	f
6481221	18	NAT2	*32	Slow	Decreased function	\N	\N	6481220	{1559981,9173883,19909761,15564878}	Moderate	\N	NAT2*32 is assigned decreased function based on moderate evidence. NAT2*32 is characterized by the core SNVs c.203G>A (p.C68Y) and c.341T>C (p.I114T). An in vitro study showed that substituting a glycine in place of cysteine at position p.68 abolished NAT2 N-acetyltransferase activity toward sulfamethazine, procainamide, p-aminosalicylic acid, and 2-aminofluorene; the authors discuss the high probability that p.Cys68 lies within the NAT2 active site and is directly involved in acetyl transfer (1559981). An additional in vitro study found that NAT2 p.C68A exhibited undetectable N-acetyltransferase activity toward p-aminosalicylic acid and sulfamethazine (9173883). Thus, substitution of a tyrosine in place of cysteine at residue p.68 would likely abolish NAT2 enzymatic activity. Published in silico modeling predicts that c.203G>A (p.C68Y) alters the NAT2 catalytic mechanism, rendering the protein non-functional (19909761). Lastly, eight out of nine variant effect predictors tested by CPIC staff predict that c.203G>A (p.C68Y) impairs protein function. c.341T>C (p.I114T) defines NAT2*5, which has repeatedly shown decreased NAT2 acetylation activity in numerous in vivo and in vitro studies. Additionally, an in vitro study showed that NAT2*5 is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*32 would presumably be degraded in the same manner. While the committee agreed to the assignment of decreased function based on the function of c.341T>C (p.I114T), there was a lack of consensus regarding the function of c.203G>A (p.C68Y). It remains unknown whether there are any combinatorial effects associated with c.341T>C and c.203G>A.	\N	f
5881977	22	NUDT15	*21	\N	\N	\N	\N	5881976	\N	\N	\N	\N	\N	f
777591	364	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
777713	364	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
3827887	137	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
777775	364	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
779065	344	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
6481215	18	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
6481241	18	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
6481279	18	NAT2	*61	\N	Unknown function	\N	\N	6481278	{}	No evidence	\N	NAT2*61 is assigned unknown function based on a lack of evidence. NAT2*61 is characterized by the core SNVs c.506A>G (p.Y169C) 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.506A>G (p.Y169C). Four out of nine variant effect predictors tested by CPIC staff predict that c.506A>G (p.Y169C) impairs protein function.	\N	f
777697	364	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	360	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
6481193	18	NAT2	*4	Rapid	Increased function	\N	\N	6481192	{9154882,8781741,28653770,8102597,30564082,15558239,7668286,2376572,1451720,10744128,22092036,1872889,8689813,20040334,9333101,17011540,22970273,16531626,15565348,9321764,9110365,11214777,31257615,29018032,24702251,24444407,15110095,27509179,11773863,20801937,16003747,21750470,23899363,9565293,9891107,9682266,24221535,22105431,8287065,27223070,8001235,8923605,10762005,8081359,35928262,28752039,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,15564878,7669073,11337936,12222688,17264801}	Definitive	\N	NAT2*4 is assigned increased function based on definitive evidence. The NAT gene nomenclature committee considered NAT2*4 as the reference allele for over two decades before the transfer of NAT2 allele nomenclature to PharmVar, which uses the GRCh38 (NC_000008.11) reference sequence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the reference NAT2*4 allele as "rapid". Under the CPIC allele function terminology, rapid acetylation alleles are categorized as "Increased Function". NAT2*4 has been studied for more than 25 years and numerous clinical and in vitro studies have demonstrated rapid acetylation by NAT2*4 with various substrates. Early clinical studies demonstrate rapid acetylation of caffeine metabolites in individuals homo- or heterozygous for the NAT2*4 allele (8102597, 7668286, 8923605, 9891107). Additional clinical studies demonstrate rapid acetylation by NAT2*4 using isoniazid (2376572, 9321764, 15565348) and sulfamethazine (1872889, 21946899). Individuals homo- or heterozygous for NAT2*4 metabolize hydralazine rapidly (24702251, 31257615). NAT2*4 is distinguished from NAT2*1 by the presence of the core SNV c.803G>A (p.R268K). c.803G>A (p.R268K) has not been shown experimentally to alter NAT2 acetylation activity in vitro nor in vivo. Accordingly, eight out of eight variant effect predictors tested by CPIC staff predict that c.803G>A is neutral/tolerated for protein function.	\N	f
779744	298	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	360	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	359	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	359	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	364	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	298	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	360	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
6481195	18	NAT2	*5	Slow	Decreased function	\N	\N	6481194	{9154882,8781741,28653770,8102597,30564082,15558239,7668286,1451720,10744128,22092036,1872889,8689813,20040334,17011540,22970273,16531626,15565348,9321764,9110365,31257615,29018032,24702251,24444407,15110095,27509179,11773863,20801937,16003747,21750470,9565293,9891107,24221535,8287065,27223070,8001235,8923605,10762005,8081359,35928262,28752039,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,15564878,7669073,11337936}	Definitive	\N	NAT2*5 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*5 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". The functional SNV c.341T>C (p.I114T) in NAT2*5 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*5 or heterozygous for NAT2*5 in combination with another decreased function allele exhibit decreased acetylation activity toward caffeine metabolites (8102597, 7668286, 10744128, 9891107, 20801937, 22970273, 24221535, 28653770), isoniazid (9154882, 9321764, 19336229, 35928262) sulfonamides (1872889, 15032315, 16570187, 18167504, 21946899), and dapsone (10762005). Individuals homozygous for NAT2*5 or heterozygous for NAT2*5 in combination with another decreased function allele exhibit increased hydralazine exposure (24702251, 31257615). Five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. In vitro studies show that NAT2*5 exhibits similar thermostability to NAT2*4, which was previously used as the reference allele (8081359, 15564878, 17434923, 11337936), however NAT2*5 is subjected to enhanced protein degradation by the proteasome (15564878), indicating decreased protein levels as the molecular mechanism for the decreased acetylation activity observed.	\N	f
778079	360	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
6481203	18	NAT2	*14	Slow	Decreased function	\N	\N	6481202	{8102597,9154882,28653770,7668286,22092036,9110365,24444407,21750470,9565293,24221535,10762005,8081359,17505821,21946899,17434923,18680467,11337936}	Definitive	\N	NAT2*14 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*14 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". ". NAT2*14 is characterized by the core SNVs c.191G>A (p.R64Q) 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.191G>A (p.R64Q) has been studied for more than 25 years and has shown decreased NAT2 N-acetylation activity in both clinical and in vitro studies using various substrates. Clinical studies demonstrate that individuals homozygous for NAT2*14 or heterozygous for NAT2*14 in combination with another decreased function allele exhibit decreased acetylation activity toward caffeine metabolites (8102597, 7668286, 9110365, 9565293, 21750470, 24221535, 28653770), isoniazid (9154882, 17505821), sulfamethazine (21946899), and dapsone (10762005). Six out of nine variant effect predictors tested by CPIC staff predict that c.191G>A (p.R64Q) impairs protein function. Published in silico modeling predicts that c.191G>A decreases protein stability and hinders electrostatic interactions (18680467). In vitro studies have demonstrated that NAT2*14 exhibits decreased protein expression and thermostability compared to the former reference, NAT2*4 (11337936, 17434923, 8081359).	\N	f
6481209	18	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
6481233	18	NAT2	*38	Slow	Decreased function	\N	\N	6481232	{19909761}	Moderate	\N	NAT2*38 is assigned decreased function based on moderate evidence. NAT2*38 is characterized by the core SNVs c.590G>A (p.R197Q), c.766A>G (p.K256E) 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.766A>G (p.K256E) does not alter protein function (19909761). Four out of nine variant effect predictors tested by CPIC staff predict that c.766A>G 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 impairs protein function. Thus, NAT2*38 is assigned decreased function based on c.590G>A. While c.766A>G is not predicted to impair protein function, it remains unknown whether there are any combinatorial effects associated with c.590G>A and c.766A>G.	\N	f
777693	364	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
6481235	18	NAT2	*39	Slow	Decreased function	\N	\N	6481234	{24533708,19909761}	Moderate	\N	NAT2*39 is assigned decreased function based on moderate evidence. NAT2*39 is characterized by the core SNVs c.590G>A (p.R197Q), c.803G>A (p.R268K), and c.838G>A (p.V280M). 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.838G>A (p.V280M) impairs protein function based on the exposure of hydrophobic residues that may facilitate protein aggregation and/or targeted protein degradation (19909761). NAT2*39 was identified in one patient (genotyped NAT2*4/*39) in a NAT2 phenotyping study using isoniazid. This patient was classified as an intermediate acetylator and this study showed lower acetyl-INH/INH ratios for intermediate acetylators compared to rapid acetylators, defined as individuals homozygous for NAT2 increased function alleles *1 or *4 or heterozygous NAT2*1/*4 (24533708). Four out of nine variant effect predictors tested by CPIC staff predict that c.838G>A (p.V280M) impairs protein function, which is supported by published in silico predictions (27984508). 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*39 is assigned decreased function based on c.590G>A. Despite this, it remains unknown whether there are any combinatorial effects associated with c.838G>A and c.590G>A.	\N	f
6481251	18	NAT2	*47	Slow	Decreased function	\N	\N	6481250	{18680467,19909761,24533708}	Limited	\N	NAT2*47 is assigned decreased function based on limited evidence. NAT2*47 is characterized by the core SNVs c.191G>A (p.R64Q), c.683C>T (p.P228L), 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.683C>T (p.P228L) impairs protein function based on the exposure of hydrophobic residues that may facilitate protein aggregation and/or targeted protein degradation (19909761). However, two out of nine variant effect predictors tested by CPIC staff predict that c.683C>T (p.P228L) impairs protein function. c.191G>A (p.R64Q, defining NAT2*14) has repeatedly shown decreased NAT2 function in numerous in vivo and in vitro studies. Six out of nine variant effect predictors tested by CPIC staff predict that c.191G>A (p.R64Q) impairs protein function. Published in silico modeling predicts that c.191G>A (p.R64Q) decreases protein stability and hinders electrostatic interactions (18680467). A NAT2 phenotyping study identified one patient with the genotype NAT2*5/*47 and this individual was classified a "slow acetylator" (24533708). In this study, slow acetylators exhibited lower metabolic ratios of acetyl-INH/INH that were statistically significant compared to both rapid and intermediate acetylators, as well as an increased INH half-life, increased INH AUC values, and decreased INH CL/F values (24533708). NAT2*47 is assigned decreased function based on the function of c.191G>A (p.R64Q). Despite this, it remains unknown whether there are any combinatorial effects associated with c.683C>T and c.191G>A	\N	f
6481253	18	NAT2	*48	Slow	Decreased function	\N	\N	6481252	{17434923,18680467,17264801}	Limited	\N	NAT2*48 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*48 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". In vitro evidence demonstrates that NAT2*48 N-acetylation activity is undetectable when using sulfamethazine as a substrate. NAT2*48 mRNA expression levels are comparable to NAT2*4, but protein expression is undetectable in mammalian cells (17264801, 17434923). Despite the undetectable enzymatic activity, the authors concluded that NAT2*48 exhibits decreased function rather than no function. Similarly, the committee could not come to consensus on a call of no function due to the lack of in vivo data supporting a complete loss of function. Published in silico modeling suggests that c.364G>A (p.D122N) disrupts the catalytic triad and the stability of the active site loop (18680467). Eight out of nine variant effect predictors tested by CPIC staff predict that c.364G>A (p.D122N) impairs protein function.	\N	f
778031	360	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
3685777	155	RYR1	c.10229C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685776	{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
6481227	18	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
3685791	155	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
3685811	155	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
3685833	155	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
3685843	155	RYR1	c.12355A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685842	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685857	155	RYR1	c.12553G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685856	{35849058}	\N	\N	BP4	{"Latino": 0.0008509, "American": null, "European": 0.0005145, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001448}	f
3685863	155	RYR1	c.12700G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685862	{35849058}	\N	\N	PS1_Mod, PS4_Mod, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685881	155	RYR1	c.13760C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685880	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00005879, "East Asian": null, "Near Eastern": 0.0002884, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685887	155	RYR1	c.13934G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685886	{35849058}	\N	\N	PM1_Sup	{"Latino": 0.0001314, "American": null, "European": 0.00001471, "East Asian": 0.002118, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002418}	f
3685891	155	RYR1	c.13994_13995delTCinsCT	Variant of uncertain significance	Uncertain function	\N	n/a	3685890	{35849058}	\N	\N	PS2_PM6_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685899	155	RYR1	c.14168G>A	Likely Benign	Normal function	\N	n/a	3685898	{35849058}	\N	\N	PM1_Sup, BS2_Mod	{"Latino": 0.0001965, "American": null, "European": 0.00007349, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004827}	f
3685979	155	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
779187	343	RYR1	c.6487C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779186	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, 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
779189	343	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
779191	343	RYR1	c.6502G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779190	{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
779197	343	RYR1	c.7007G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779196	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": 0.00009409, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685593	155	RYR1	c.7018T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685592	{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
779199	343	RYR1	c.7042_7044delGAG	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779198	{33767344}	\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
3685659	155	RYR1	c.7317G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685658	{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
3685759	155	RYR1	c.9758T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685758	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001935}	f
779304	343	SLCO1B1	*14	Increased function	Increased function	\N	\N	779303	{11477075,22147369,23311897,24122874,18781850,24420746,31777781,20139798,32961594}	Strong	\N	SLCO1B1*14 is assigned increased function based on strong evidence in heterozygous and homozygous patients. The lipid-lowering response to fluvastatin is associated with the *14 allele, with greater response in the *14/*14 patients (18781850). The clearance of high-dose methotrexate is significantly faster in patients with two *14 alleles (22147369), and response to low-dose methotrexate is reduced in patients with arthritis (31777781). Exposure to atorvastatin is decreased in heterozygous and homozygous subjects (23311897). The plasma levels of highly sensitive OATP1B1 endogenous substrate GCDCA-3G are significantly lower in *14 carriers than in individuals with the SLCO1B1*1/*1 diplotype (32961594). The *14 allele is associated with increased expression of the transporter in the liver (23311897, 24122874). In vitro studies that normalize the drug uptake to the protein concentration find no increased uptake of rifampin, estrone sulfate, or estradiol 17beta-glucuronide (11477075) and one found decreased uptake of estrone sulfate and ceravistatin (23652407). Therefore, consensus among experts was increased function.	{"American": null, "European": 0.135571, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
777941	360	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	298	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	316	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
2677040	113	CYP2D6	*164	\N	\N	\N	\N	2677039	\N	\N	\N	\N	\N	f
778809	316	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
778887	316	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	316	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	316	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	360	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	316	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	316	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	18	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	113	CYP2D6	*170	\N	\N	\N	\N	2677051	\N	\N	\N	\N	\N	f
2677042	113	CYP2D6	*165	\N	\N	\N	\N	2677041	\N	\N	\N	\N	\N	f
777993	360	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
2677044	113	CYP2D6	*166	\N	\N	\N	\N	2677043	\N	\N	\N	\N	\N	f
6481247	18	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
6481197	18	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	360	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	18	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	18	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
778049	359	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	359	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	113	CYP2D6	*167	\N	\N	\N	\N	2677045	\N	\N	\N	\N	\N	f
6481283	18	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
778103	360	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	113	CYP2D6	*168	\N	\N	\N	\N	2677047	\N	\N	\N	\N	\N	f
2677050	113	CYP2D6	*169	\N	\N	\N	\N	2677049	\N	\N	\N	\N	\N	f
6481267	18	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
778125	359	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
6481261	18	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	18	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
3318540	87	CYP2D6	*172	\N	\N	\N	\N	3318539	\N	\N	\N	\N	\N	f
5175553	34	CYP2D6	*174	\N	\N	\N	\N	5175552	\N	\N	\N	\N	\N	f
5175555	34	CYP2D6	*175	\N	\N	\N	\N	5175554	\N	\N	\N	\N	\N	f
5763833	24	CYP2D6	*177	\N	\N	\N	\N	5763832	\N	\N	\N	\N	\N	f
6481285	18	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	359	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	360	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	18	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	266	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	18	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	360	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	155	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	155	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	155	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	155	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	155	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	360	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	155	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	155	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	343	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	155	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	155	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	155	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	343	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	336	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	360	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	18	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	359	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	316	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	316	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
778941	316	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	316	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
6481231	18	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
778755	316	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
6481281	18	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
778745	316	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	316	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	316	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	155	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	155	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	155	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	343	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	155	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	155	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	155	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
3827889	137	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	137	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	342	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	342	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	336	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	155	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	155	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	336	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	155	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	155	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	364	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	155	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	155	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	155	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	343	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	155	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	155	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	155	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	155	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	113	CYP2D6	*151	\N	\N	\N	\N	2677013	\N	\N	\N	\N	\N	f
777685	364	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	155	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	155	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	155	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	343	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	155	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	150	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	150	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	150	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	150	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	121	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	121	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	121	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	121	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	121	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	121	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	121	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	83	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	343	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	155	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	155	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	155	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	342	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	342	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	342	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	336	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	325	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	364	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	364	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	123	NUDT15	*16	\N	\N	\N	\N	779094	\N	\N	\N	\N	\N	f
777717	364	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	61	IFNL3	rs12979860 reference (C)	\N	\N	\N	\N	779041	\N	\N	\N	\N	\N	t
779044	61	IFNL3	rs12979860 variant (T)	\N	\N	\N	\N	779043	\N	\N	\N	\N	\N	f
777727	364	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	123	NUDT15	*10	\N	\N	\N	\N	779082	\N	\N	\N	\N	\N	f
777739	364	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	357	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	357	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	356	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	113	CYP2D6	*150	\N	\N	\N	\N	2677011	\N	\N	\N	\N	\N	f
777751	364	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	364	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	357	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	356	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	364	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	364	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	364	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	188	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	188	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
1508725	346	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
778235	356	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
777267	364	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
779067	344	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
777356	222	CFTR	L206W	\N	ivacaftor responsive	\N	\N	777355	{}	\N	\N	\N	\N	f
777358	222	CFTR	P67L	\N	ivacaftor responsive	\N	\N	777357	{}	\N	\N	\N	\N	f
777372	222	CFTR	R74W	\N	ivacaftor responsive	\N	\N	777371	{}	\N	\N	\N	\N	f
777807	346	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	346	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	222	CFTR	ivacaftor non-responsive CFTR sequence	\N	ivacaftor non-responsive	\N	\N	777307	{}	\N	\N	\N	\N	f
777316	222	CFTR	711+3A->G	\N	ivacaftor responsive	\N	\N	777315	{}	\N	ACMG screening panel	\N	\N	f
777322	222	CFTR	D110E	\N	ivacaftor responsive	\N	\N	777321	{}	\N	\N	\N	\N	f
777324	222	CFTR	D110H	\N	ivacaftor responsive	\N	\N	777323	{}	\N	\N	\N	\N	f
777332	222	CFTR	E193K	\N	ivacaftor responsive	\N	\N	777331	{}	\N	\N	\N	\N	f
777334	222	CFTR	E56K	\N	ivacaftor responsive	\N	\N	777333	{}	\N	\N	\N	\N	f
777348	222	CFTR	G178R	\N	ivacaftor responsive	\N	\N	777347	{}	\N	\N	\N	\N	f
777423	364	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	364	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
777461	364	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
779479	123	TPMT	*42	\N	\N	\N	\N	779478	\N	\N	\N	\N	\N	f
779451	342	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	364	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
777445	364	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
777465	363	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	342	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
779069	344	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	344	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	364	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	364	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
777583	364	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
777533	364	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
779455	342	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
777601	347	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
5175551	34	CYP2D6	*173	\N	\N	\N	\N	5175550	\N	\N	\N	\N	\N	f
777669	363	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	124	CYP2C9	*76	\N	\N	\N	\N	1932985	\N	\N	\N	\N	\N	f
1932988	124	CYP2C9	*77	\N	\N	\N	\N	1932987	\N	\N	\N	\N	\N	f
1932990	124	CYP2C9	*78	\N	\N	\N	\N	1932989	\N	\N	\N	\N	\N	f
1932992	124	CYP2C9	*79	\N	\N	\N	\N	1932991	\N	\N	\N	\N	\N	f
1932998	124	CYP2C9	*82	\N	\N	\N	\N	1932997	\N	\N	\N	\N	\N	f
1932996	124	CYP2C9	*81	\N	\N	\N	\N	1932995	\N	\N	\N	\N	\N	f
777681	364	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	364	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	342	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	364	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	342	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	364	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	124	CYP2C9	*83	\N	\N	\N	\N	1932999	\N	\N	\N	\N	\N	f
1933002	124	CYP2C9	*84	\N	\N	\N	\N	1933001	\N	\N	\N	\N	\N	f
1933004	124	CYP2C9	*85	\N	\N	\N	\N	1933003	\N	\N	\N	\N	\N	f
779461	342	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	359	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	363	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	155	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	342	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	342	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	155	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	342	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	155	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	266	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	266	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	264	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	264	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	357	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	357	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	357	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	351	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	351	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	351	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	351	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	351	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	217	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	345	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	316	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	316	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	316	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	316	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	316	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	217	MT-RNR1	Reference	\N	Normal risk of aminoglycoside-induced hearing loss	\N	\N	828095	{27654872}	\N	\N	27654872: N/A	\N	f
3827893	137	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	137	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	123	NUDT15	*18	\N	\N	\N	\N	779098	\N	\N	\N	\N	\N	f
779101	123	NUDT15	*19	\N	\N	\N	\N	779100	\N	\N	\N	\N	\N	f
3827895	137	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	137	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	137	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	344	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	344	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	344	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	344	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	344	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	342	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	155	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	155	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	155	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	155	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	343	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	155	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	155	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	217	RYR1	Reference	Benign	Normal function	\N	n/a	779148	{}	\N	\N	\N	\N	f
3685629	155	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	155	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	155	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	343	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	155	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	155	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	343	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	155	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	155	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	155	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	343	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	343	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	155	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	155	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	155	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	343	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	155	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	155	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	155	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	155	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	155	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	155	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	343	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	155	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	155	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	155	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	155	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	342	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	343	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	342	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	123	TPMT	*43	\N	\N	\N	\N	779480	\N	\N	\N	\N	\N	f
779483	123	TPMT	*44	\N	\N	\N	\N	779482	\N	\N	\N	\N	\N	f
779471	342	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	342	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	342	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	342	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	343	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	343	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	343	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	342	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	342	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	342	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	342	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	344	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
6355227	7	CFTR	D192G	\N	f	f
6355231	7	CFTR	D924N	\N	f	f
777482	173	CYP2B6	*32	PV00772	f	f
777484	173	CYP2B6	*33	PV00848	f	f
777333	97	CFTR	E56K	\N	f	f
6355241	7	CFTR	E822K	\N	f	f
778190	173	CYP2D6	*136	PV00691	f	f
1406321	143	CYP2C9	*75	PV01742	f	f
778196	173	CYP2D6	*139	PV00728	f	f
777492	173	CYP2B6	*37	PV00777	f	f
777494	173	CYP2B6	*38	PV00778	f	f
2899154	87	CYP2B6	*45	PV02278	f	f
2899156	87	CYP2B6	*46	PV02280	f	f
2899158	87	CYP2B6	*47	PV02282	f	f
2899162	87	CYP2B6	*49	PV02286	f	f
5997308	20	CYP2B6	*50	PV02841	f	f
777432	173	CYP2B6	*6	PV00744	f	f
777580	173	CYP2C19	*28	PV00622	f	f
777436	173	CYP2B6	*8	PV00746	f	f
6235065	16	CYP2C19	*41	PV02896	f	f
777578	173	CYP2C19	*26	PV00621	f	f
777794	173	CYP2C9	*64	PV01419	f	f
777592	173	CYP2C19	*34	PV02143	f	f
1933003	123	CYP2C9	*85	PV01798	f	f
777690	173	CYP2C9	*12	PV00548	f	f
777454	173	CYP2B6	*18	PV00756	f	f
777716	173	CYP2C9	*25	PV00561	f	f
777460	173	CYP2B6	*21	PV00759	f	f
778178	173	CYP2D6	*130	PV00685	f	f
777746	173	CYP2C9	*40	PV00576	f	f
778182	173	CYP2D6	*132	PV00687	f	f
777776	173	CYP2C9	*55	PV00591	f	f
777680	173	CYP2C9	*7	PV00543	f	f
777464	173	CYP2B6	*23	PV00761	f	f
777704	173	CYP2C9	*19	PV00555	f	f
777958	173	CYP2D6	*12	PV00437	f	f
778192	173	CYP2D6	*137	PV00692	f	f
778206	173	CYP2D6	*144	PV01436	f	f
777732	173	CYP2C9	*33	PV00569	f	f
778208	173	CYP2D6	*145	PV01437	f	f
1103379	155	CYP2D6	*147	PV01805	f	f
1609527	136	CYP2D6	*148	PV01745	f	f
777766	173	CYP2C9	*50	PV00586	f	f
2091236	117	CYP2D6	*152	PV02155	f	f
778188	173	CYP2D6	*135	PV00690	f	f
777474	173	CYP2B6	*28	PV00766	f	f
2091238	117	CYP2D6	*153	PV02157	f	f
778184	173	CYP2D6	*133	PV00688	f	f
2091242	117	CYP2D6	*155	PV01936	f	f
2091244	117	CYP2D6	*156	PV01943	f	f
2091246	117	CYP2D6	*157	PV01947	f	f
7094208	2	MT-RNR1	m.930G>A	\N	f	f
6355245	7	CFTR	F311del	\N	f	f
6355247	7	CFTR	F311L	\N	f	f
6355249	7	CFTR	F508C	\N	f	f
6355257	7	CFTR	G178E	\N	f	f
6355261	7	CFTR	G194R(G>A)	\N	f	f
6970389	6	SLCO1B1	*57	PV03022	f	f
6355217	7	CFTR	A349V	\N	f	f
778200	173	CYP2D6	*141	PV02389	f	f
778202	173	CYP2D6	*142	PV01434	f	f
1103377	155	CYP2D6	*146	PV01717	f	f
6355263	7	CFTR	G194R(G>C)	\N	f	f
1103381	155	CYP2D6	*149	PV01730	f	f
6355265	7	CFTR	G314E	\N	f	f
777462	173	CYP2B6	*22	PV00760	f	f
777466	173	CYP2B6	*24	PV00762	f	f
6355271	7	CFTR	G576A	\N	f	f
6355273	7	CFTR	G970D	\N	f	f
777468	173	CYP2B6	*25	PV00763	f	f
777486	173	CYP2B6	*34	PV00774	f	f
777678	173	CYP2C9	*6	PV00542	f	f
2677013	95	CYP2D6	*151	PV02194	f	f
777470	173	CYP2B6	*26	PV00764	f	f
777476	168	CYP2B6	*29	PV00767	f	t
6355279	7	CFTR	G1249R(G>A)	\N	f	f
777478	168	CYP2B6	*30	PV00770	f	t
6355281	7	CFTR	G1249R(G>C)	\N	f	f
6355285	7	CFTR	H939R	\N	f	f
6355287	7	CFTR	H1375P	\N	f	f
6355289	7	CFTR	I148T	\N	f	f
6355293	7	CFTR	I807M	\N	f	f
6355295	7	CFTR	I1027T	\N	f	f
6355297	7	CFTR	I1139V	\N	f	f
6355303	7	CFTR	L320V	\N	f	f
6355339	7	CFTR	R117G	\N	f	f
777490	173	CYP2B6	*36	PV00776	f	f
6970391	6	SLCO1B1	*58	PV03024	f	f
6355305	7	CFTR	L967S	\N	f	f
6355307	7	CFTR	L997F(G>C)	\N	f	f
6355309	7	CFTR	L997F(G>T)	\N	f	f
6355311	7	CFTR	L1480P	\N	f	f
6355313	7	CFTR	M152V	\N	f	f
6355315	7	CFTR	M952I(G>A)	\N	f	f
6355319	7	CFTR	M952I(G>T)	\N	f	f
6355321	7	CFTR	M952T	\N	f	f
777357	97	CFTR	P67L	\N	f	f
6355325	7	CFTR	Q237E	\N	f	f
6355327	7	CFTR	Q237H	\N	f	f
777440	173	CYP2B6	*10	PV00748	f	f
6355329	7	CFTR	Q359R	\N	f	f
6355331	7	CFTR	Q1291R	\N	f	f
6355335	7	CFTR	R75Q	\N	f	f
6355343	7	CFTR	R117L	\N	f	f
6355345	7	CFTR	R117P	\N	f	f
6355347	7	CFTR	R170H	\N	f	f
6355351	7	CFTR	R347L	\N	f	f
6355355	7	CFTR	R553Q	\N	f	f
6355357	7	CFTR	R668C	\N	f	f
6355359	7	CFTR	R792G	\N	f	f
6355361	7	CFTR	R933G	\N	f	f
777434	173	CYP2B6	*7	PV00745	f	f
777438	173	CYP2B6	*9	PV00747	f	f
777444	173	CYP2B6	*12	PV00750	f	f
777448	173	CYP2B6	*14	PV00752	f	f
777480	173	CYP2B6	*31	PV00771	f	f
778180	173	CYP2D6	*131	PV00686	f	f
6355213	7	CFTR	A120T	\N	f	f
777450	173	CYP2B6	*15	PV00753	f	f
6355215	7	CFTR	A234D	\N	f	f
777452	173	CYP2B6	*17	PV00755	f	f
777456	173	CYP2B6	*19	PV00757	f	f
6970385	6	SLCO1B1	*55	PV03018	f	f
6970387	6	SLCO1B1	*56	PV03020	f	f
777442	173	CYP2B6	*11	PV00749	f	f
778070	173	CYP2D6	*71	PV00493	f	f
779343	166	SLCO1B1	*34	PV01647	f	f
3318601	72	CYP4F2	*16	PV02312	f	t
6355367	7	CFTR	R1162L	\N	f	f
2091250	117	CYP2D6	*159	PV01954	f	f
777948	173	CYP2D6	*7	PV00432	f	f
2677049	95	CYP2D6	*169	PV02163	f	f
5998168	20	CYP2D6	*183	PV02819	f	f
2677051	95	CYP2D6	*170	PV02165	f	f
778014	173	CYP2D6	*41	PV00465	f	f
2677053	95	CYP2D6	*171	PV02189	f	f
3318539	72	CYP2D6	*172	PV02301	f	f
4058604	49	CYP4F2	*17	PV02391	f	f
778062	173	CYP2D6	*65	PV00489	f	f
778240	172	CYP4F2	*2	PV02213	f	f
5763832	24	CYP2D6	*177	PV02522	f	f
5175550	34	CYP2D6	*173	PV02498	f	f
778024	173	CYP2D6	*46	PV00470	f	f
5998158	20	CYP2D6	*178	PV02809	f	f
5175552	34	CYP2D6	*174	PV02500	f	f
777532	173	CYP2C19	*1	PV00598	f	f
778026	173	CYP2D6	*47	PV00471	f	f
779347	166	SLCO1B1	*36	PV01648	f	f
5998160	20	CYP2D6	*179	PV02811	f	f
5175554	34	CYP2D6	*175	PV02502	f	f
778028	173	CYP2D6	*48	PV00472	f	f
778030	173	CYP2D6	*49	PV00473	f	f
778096	173	CYP2D6	*89	PV00506	f	f
5998162	20	CYP2D6	*180	PV02813	f	f
779283	166	SLCO1B1	*4	PV01621	f	f
6235063	16	CYP2C19	*40	PV02894	f	f
777946	173	CYP2D6	*6	PV00431	f	f
778054	168	CYP2D6	*61	PV00485	f	t
778068	173	CYP2D6	*70	PV00492	f	f
778058	168	CYP2D6	*63	PV00487	f	t
778072	173	CYP2D6	*72	PV00494	f	f
778064	168	CYP2D6	*68	PV00490	f	t
778066	173	CYP2D6	*69	PV00491	f	f
778076	173	CYP2D6	*74	PV00496	f	f
778088	173	CYP2D6	*85	PV00502	f	f
778074	173	CYP2D6	*73	PV00495	f	f
777950	173	CYP2D6	*8	PV00433	f	f
778092	173	CYP2D6	*87	PV00504	f	f
778108	173	CYP2D6	*95	PV00512	f	f
778078	173	CYP2D6	*75	PV00497	f	f
778114	173	CYP2D6	*98	PV00515	f	f
778080	173	CYP2D6	*81	PV00498	f	f
2091252	117	CYP2D6	*160	PV01958	f	f
778082	173	CYP2D6	*82	PV00499	f	f
5409119	30	CYP2D6	*176	PV02519	f	f
778086	173	CYP2D6	*84	PV00501	f	f
5998164	20	CYP2D6	*181	PV02815	f	f
778090	173	CYP2D6	*86	PV00503	f	f
778112	173	CYP2D6	*97	PV00514	f	f
778094	173	CYP2D6	*88	PV00505	f	f
3318593	72	CYP4F2	*12	PV02322	f	f
777952	173	CYP2D6	*9	PV00434	f	f
779297	166	SLCO1B1	*11	PV01628	f	f
778016	173	CYP2D6	*42	PV02297	f	f
779315	166	SLCO1B1	*20	PV01635	f	f
778018	173	CYP2D6	*43	PV00467	f	f
5998166	20	CYP2D6	*182	PV02817	f	f
778032	173	CYP2D6	*50	PV00474	f	f
5998170	20	CYP2D6	*184	PV02821	f	f
778034	173	CYP2D6	*51	PV00475	f	f
777758	173	CYP2C9	*46	PV00582	f	f
778036	173	CYP2D6	*52	PV00476	f	f
1002695	157	SLCO1B1	*42	PV01654	f	f
778038	173	CYP2D6	*53	PV00477	f	f
1002697	157	SLCO1B1	*43	PV01655	f	f
778040	173	CYP2D6	*54	PV00478	f	f
779321	166	SLCO1B1	*23	PV01636	f	f
778044	173	CYP2D6	*56	PV00480	f	f
2784572	91	CYP4F2	*4	PV02221	f	f
778052	173	CYP2D6	*60	PV00484	f	f
778042	173	CYP2D6	*55	PV00479	f	f
777682	173	CYP2C9	*8	PV00544	f	f
779323	166	SLCO1B1	*24	PV01637	f	f
2091254	117	CYP2D6	*161	PV01963	f	f
1357091	145	SLCO1B1	*48	PV01732	f	t
778048	173	CYP2D6	*58	PV00482	f	f
2784576	91	CYP4F2	*6	PV02225	f	f
778050	173	CYP2D6	*59	PV00483	f	f
778056	173	CYP2D6	*62	PV00486	f	f
779325	166	SLCO1B1	*25	PV01638	f	f
778060	173	CYP2D6	*64	PV00488	f	f
778084	173	CYP2D6	*83	PV02385	f	f
6235320	16	CYP2C9	*86	PV02929	f	f
3318595	72	CYP4F2	*13	PV02324	f	f
6235322	16	CYP2C9	*87	PV02931	f	f
3318599	72	CYP4F2	*15	PV02328	f	f
1002693	157	SLCO1B1	*41	PV01653	f	f
779327	166	SLCO1B1	*26	PV01639	f	f
6235324	16	CYP2C9	*88	PV02933	f	f
779331	166	SLCO1B1	*28	PV01641	f	f
778186	173	CYP2D6	*134	PV00689	f	f
778204	173	CYP2D6	*143	PV01435	f	f
2677011	95	CYP2D6	*150	PV02524	f	f
5998172	20	CYP2D6	*185	PV02823	f	f
2091256	117	CYP2D6	*162	PV01967	f	f
2091258	117	CYP2D6	*163	PV01969	f	f
2677039	95	CYP2D6	*164	PV02199	f	f
2677043	95	CYP2D6	*166	PV02203	f	f
2677045	95	CYP2D6	*167	PV02159	f	f
2784578	91	CYP4F2	*7	PV02227	f	f
2677047	95	CYP2D6	*168	PV02161	f	f
777970	173	CYP2D6	*19	PV02196	f	f
777978	173	CYP2D6	*23	PV00447	f	f
777988	173	CYP2D6	*28	PV00452	f	f
778020	173	CYP2D6	*44	PV00468	f	f
778022	173	CYP2D6	*45	PV00469	f	f
3318585	72	CYP4F2	*8	PV02314	f	f
3318587	72	CYP4F2	*9	PV02316	f	f
779080	172	NUDT15	*9	PV01605	f	f
779303	166	SLCO1B1	*14	PV01631	f	f
779305	166	SLCO1B1	*15	PV01632	f	f
779307	166	SLCO1B1	*16	PV01633	f	f
779335	166	SLCO1B1	*30	PV01643	f	f
779337	166	SLCO1B1	*31	PV01644	f	f
779339	166	SLCO1B1	*32	PV01645	f	f
779242	97	RYR1	c.14582G>A	\N	f	f
779244	97	RYR1	c.14693T>C	\N	f	f
6355369	7	CFTR	R1283M	\N	f	f
6355377	7	CFTR	S589N	\N	f	f
778337	97	DPYD	c.295_298delTCAT (*7)	\N	f	f
777594	173	CYP2C19	*35	PV00629	f	f
777534	173	CYP2C19	*2	PV00599	f	f
777572	173	CYP2C19	*23	PV00618	f	f
778872	97	G6PD	West Virginia	\N	f	f
777550	173	CYP2C19	*10	PV00607	f	f
779041	97	IFNL3	rs12979860 reference (C)	\N	t	f
3685882	36	RYR1	c.13913G>A	\N	f	f
779043	97	IFNL3	rs12979860 variant (T)	\N	f	f
3685886	36	RYR1	c.13934G>A	\N	f	f
3685888	36	RYR1	c.13990T>C	\N	f	f
3685896	36	RYR1	c.14126C>T	\N	f	f
3685898	36	RYR1	c.14168G>A	\N	f	f
3685908	36	RYR1	c.14210G>A	\N	f	f
7096546	4	NAT2	*67	PV02995	f	f
3685910	36	RYR1	c.14270G>A	\N	f	f
779232	97	RYR1	c.14387A>G	\N	f	f
778435	97	DPYD	c.1905C>G	\N	f	f
3685922	36	RYR1	c.14458G>T	\N	f	f
3685924	36	RYR1	c.14471T>C	\N	f	f
779238	97	RYR1	c.14512C>G	\N	f	f
3685936	36	RYR1	c.14524G>A	\N	f	f
3685938	36	RYR1	c.14539G>C	\N	f	f
3685948	36	RYR1	c.14581C>T	\N	f	f
777574	173	CYP2C19	*24	PV00619	f	f
3685960	36	RYR1	c.14782A>G	\N	f	f
779285	166	SLCO1B1	*5	PV01622	f	f
777576	173	CYP2C19	*25	PV00620	f	f
777556	173	CYP2C19	*13	PV00610	f	f
777552	173	CYP2C19	*11	PV00608	f	f
7096544	4	NAT2	*66	PV02993	f	f
779240	97	RYR1	c.14545G>A	\N	f	f
6355379	7	CFTR	S737F	\N	f	f
777598	168	CYP2C19	*37	PV00732	f	t
777544	173	CYP2C19	*7	PV02134	f	f
3685890	36	RYR1	c.13994_13995delTCinsCT	\N	f	f
3685916	36	RYR1	c.14424C>A	\N	f	f
3685918	36	RYR1	c.14449A>T	\N	f	f
779234	97	RYR1	c.14477C>T	\N	f	f
3685962	36	RYR1	c.14803G>A	\N	f	f
3685964	36	RYR1	c.14813T>C	\N	f	f
3685900	36	RYR1	c.14186A>C	\N	f	f
3685966	36	RYR1	c.14814C>G	\N	f	f
3685968	36	RYR1	c.14817C>A	\N	f	f
3685970	36	RYR1	c.14818G>A	\N	f	f
3685972	36	RYR1	c.14825G>T	\N	f	f
3685974	36	RYR1	c.14879T>A	\N	f	f
3685976	36	RYR1	c.14918C>T	\N	f	f
3685978	36	RYR1	c.14968A>G	\N	f	f
3685980	36	RYR1	c.15059G>C	\N	f	f
779279	166	SLCO1B1	*2	PV01619	f	f
779333	166	SLCO1B1	*29	PV01642	f	f
779287	166	SLCO1B1	*6	PV01623	f	f
777554	173	CYP2C19	*12	PV00609	f	f
779293	166	SLCO1B1	*9	PV01626	f	f
777558	173	CYP2C19	*14	PV00611	f	f
777542	173	CYP2C19	*6	PV00603	f	f
777560	173	CYP2C19	*15	PV00612	f	f
777562	173	CYP2C19	*16	PV02139	f	f
777564	173	CYP2C19	*17	PV00614	f	f
777566	173	CYP2C19	*18	PV00615	f	f
777568	173	CYP2C19	*19	PV00616	f	f
6355385	7	CFTR	S1159F	\N	f	f
6355387	7	CFTR	S1159P	\N	f	f
6355393	7	CFTR	T338I	\N	f	f
777570	173	CYP2C19	*22	PV00617	f	f
777536	173	CYP2C19	*3	PV00600	f	f
778116	173	CYP2D6	*99	PV00516	f	f
777540	173	CYP2C19	*5	PV02131	f	f
6355395	7	CFTR	T1053I	\N	f	f
777538	173	CYP2C19	*4	PV00601	f	f
6355397	7	CFTR	V232D	\N	f	f
6355399	7	CFTR	V562I	\N	f	f
777944	168	CYP2D6	*5	PV00430	f	t
778242	172	CYP4F2	*3	PV02214	f	f
6355401	7	CFTR	V754M	\N	f	f
6355403	7	CFTR	V1293G	\N	f	f
6355405	7	CFTR	W1282R	\N	f	f
6355407	7	CFTR	Y1014C	\N	f	f
3685920	36	RYR1	c.14458G>A	\N	f	f
6355409	7	CFTR	Y1032C	\N	f	f
777600	173	CYP2C19	*39	PV01528	f	f
777548	173	CYP2C19	*9	PV00606	f	f
7096542	4	NAT2	*65	PV02991	f	f
3685892	36	RYR1	c.14002C>T	\N	f	f
7096548	4	NAT2	*68	PV02997	f	f
3685942	36	RYR1	c.14558C>T	\N	f	f
3685950	36	RYR1	c.14627A>G	\N	f	f
3685952	36	RYR1	c.14639T>C	\N	f	f
3685954	36	RYR1	c.14678G>A	\N	f	f
3685956	36	RYR1	c.14680G>A	\N	f	f
7096550	4	NAT2	*69	PV02999	f	f
1002685	157	SLCO1B1	*37	PV01649	f	f
1002623	157	SLCO1B1	*1	PV01618	t	f
1002701	157	SLCO1B1	*45	PV01657	f	f
1357093	145	SLCO1B1	*49	PV01734	f	t
779291	166	SLCO1B1	*8	PV01625	f	f
3685894	36	RYR1	c.14051T>C	\N	f	f
779236	97	RYR1	c.14497C>T	\N	f	f
778453	97	DPYD	c.2279C>T	\N	f	f
778485	97	DPYD	c.2983G>T (*10)	\N	f	f
3685878	36	RYR1	c.13702C>G	\N	f	f
3685930	36	RYR1	c.14510delA	\N	f	f
3685944	36	RYR1	c.14567C>G	\N	f	f
778954	97	G6PD	Puerto Limon	\N	f	f
3685902	36	RYR1	c.14197T>G	\N	f	f
3685904	36	RYR1	c.14201G>A	\N	f	f
3685880	36	RYR1	c.13760C>T	\N	f	f
3685932	36	RYR1	c.14509C>G	\N	f	f
778990	97	G6PD	Santiago de Cuba, Morioka	\N	f	f
778780	99	G6PD	Taipei, Chinese-3	\N	f	f
3685906	36	RYR1	c.14209C>T	\N	f	f
3685874	36	RYR1	c.13673G>A	\N	f	f
3685876	36	RYR1	c.13672C>T	\N	f	f
777428	173	CYP2B6	*4	PV00742	f	f
777686	173	CYP2C9	*10	PV00546	f	f
777994	173	CYP2D6	*31	PV00455	f	f
6235905	16	CYP4F2	*18	PV02945	f	f
6235907	16	CYP4F2	*19	PV02947	f	f
778802	97	G6PD	Pedoplis-Ckaro	\N	f	f
778744	97	G6PD	Santa Maria	\N	f	f
777772	173	CYP2C9	*53	PV00589	f	f
777774	173	CYP2C9	*54	PV00590	f	f
777778	173	CYP2C9	*56	PV00592	f	f
777780	173	CYP2C9	*57	PV00593	f	f
777782	173	CYP2C9	*58	PV00594	f	f
777784	173	CYP2C9	*59	PV00595	f	f
777692	173	CYP2C9	*13	PV00549	f	f
777786	173	CYP2C9	*60	PV00596	f	f
777788	173	CYP2C9	*61	PV00597	f	f
777790	173	CYP2C9	*62	PV00851	f	f
777792	173	CYP2C9	*63	PV01418	f	f
3685694	36	RYR1	c.7771C>T	\N	f	f
777694	173	CYP2C9	*14	PV00550	f	f
777698	173	CYP2C9	*16	PV00552	f	f
3685726	36	RYR1	c.8518C>T	\N	f	f
3685758	36	RYR1	c.9758T>C	\N	f	f
3685790	36	RYR1	c.10891G>T	\N	f	f
6235909	16	CYP4F2	*20	PV02949	f	f
3685822	36	RYR1	c.11953T>C	\N	f	f
6235911	16	CYP4F2	*21	PV02951	f	f
3685856	36	RYR1	c.12553G>A	\N	f	f
777796	173	CYP2C9	*65	PV01420	f	f
6235913	16	CYP4F2	*22	PV02953	f	f
6235915	16	CYP4F2	*23	PV02955	f	f
1002689	157	SLCO1B1	*39	PV01651	f	f
777798	173	CYP2C9	*66	PV01421	f	f
777800	173	CYP2C9	*67	PV01422	f	f
777802	173	CYP2C9	*68	PV01423	f	f
777700	173	CYP2C9	*17	PV00553	f	f
777804	173	CYP2C9	*69	PV01424	f	f
777702	173	CYP2C9	*18	PV00554	f	f
777670	173	CYP2C9	*2	PV00538	f	f
777706	173	CYP2C9	*20	PV00556	f	f
777712	173	CYP2C9	*23	PV00559	f	f
777714	173	CYP2C9	*24	PV00560	f	f
777720	173	CYP2C9	*27	PV00563	f	f
777722	173	CYP2C9	*28	PV00564	f	f
777724	173	CYP2C9	*29	PV00565	f	f
777672	173	CYP2C9	*3	PV00539	f	f
6355291	7	CFTR	I175V	\N	f	f
6355317	7	CFTR	M952I(G>C)	\N	f	f
777726	173	CYP2C9	*30	PV00566	f	f
777806	173	CYP2C9	*70	PV01425	f	f
777728	173	CYP2C9	*31	PV00567	f	f
778483	97	DPYD	c.2977C>T	\N	f	f
778714	97	G6PD	202G>A_376A>G_1264C>G	\N	f	f
777730	173	CYP2C9	*32	PV00568	f	f
777734	173	CYP2C9	*34	PV00570	f	f
777738	173	CYP2C9	*36	PV00572	f	f
777740	173	CYP2C9	*37	PV00573	f	f
777742	173	CYP2C9	*38	PV00574	f	f
1406315	143	CYP2C9	*72	PV01736	f	f
1406317	143	CYP2C9	*73	PV01738	f	f
778752	97	G6PD	A	\N	f	f
778712	97	G6PD	A- 202A_376G	\N	f	f
778742	97	G6PD	Acrokorinthos	\N	f	f
777744	173	CYP2C9	*39	PV00575	f	f
1406319	143	CYP2C9	*74	PV01803	f	f
777748	173	CYP2C9	*41	PV00577	f	f
779002	97	G6PD	Andalus	\N	f	f
778826	97	G6PD	Asahikawa	\N	f	f
1932985	123	CYP2C9	*76	PV01780	f	f
1932987	123	CYP2C9	*77	PV01782	f	f
1932989	123	CYP2C9	*78	PV01784	f	f
1932991	123	CYP2C9	*79	PV01786	f	f
777750	173	CYP2C9	*42	PV00578	f	f
1932993	123	CYP2C9	*80	PV01788	f	f
1932997	123	CYP2C9	*82	PV01792	f	f
1932999	123	CYP2C9	*83	PV01794	f	f
1933001	123	CYP2C9	*84	PV01796	f	f
777684	173	CYP2C9	*9	PV00545	f	f
777752	173	CYP2C9	*43	PV00579	f	f
777756	173	CYP2C9	*45	PV00581	f	f
777760	173	CYP2C9	*47	PV00583	f	f
777762	173	CYP2C9	*48	PV00584	f	f
777764	173	CYP2C9	*49	PV00585	f	f
777676	173	CYP2C9	*5	PV00541	f	f
777768	173	CYP2C9	*51	PV00587	f	f
777770	173	CYP2C9	*52	PV00588	f	f
778938	97	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	\N	f	f
779038	97	G6PD	Brighton	\N	f	f
778774	97	G6PD	Gond	\N	f	f
778906	97	G6PD	Ierapetra	\N	f	f
778724	97	G6PD	Lagosanto	\N	f	f
778800	98	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	\N	f	f
777472	173	CYP2B6	*27	PV00765	f	f
2899142	87	CYP2B6	*39	PV02266	f	f
2899146	87	CYP2B6	*41	PV02270	f	f
2899148	87	CYP2B6	*42	PV02272	f	f
2899150	87	CYP2B6	*43	PV02274	f	f
2899152	87	CYP2B6	*44	PV02276	f	f
777430	173	CYP2B6	*5	PV00743	f	f
777530	173	CYP2C19	*38	PV02145	t	f
777936	173	CYP2D6	*1	PV00426	t	f
777954	173	CYP2D6	*10	PV00435	f	f
778118	173	CYP2D6	*100	PV00517	f	f
778120	173	CYP2D6	*101	PV00518	f	f
778122	173	CYP2D6	*102	PV00519	f	f
778124	173	CYP2D6	*103	PV00520	f	f
778126	173	CYP2D6	*104	PV00521	f	f
778128	173	CYP2D6	*105	PV00522	f	f
778130	173	CYP2D6	*106	PV00523	f	f
778132	173	CYP2D6	*107	PV00524	f	f
778136	173	CYP2D6	*109	PV00526	f	f
777956	173	CYP2D6	*11	PV00436	f	f
778138	173	CYP2D6	*110	PV00527	f	f
778140	173	CYP2D6	*111	PV00528	f	f
778142	173	CYP2D6	*112	PV00529	f	f
778144	173	CYP2D6	*113	PV00530	f	f
777962	173	CYP2D6	*14	PV00439	f	f
777964	173	CYP2D6	*15	PV00440	f	f
777966	173	CYP2D6	*17	PV00441	f	f
777968	173	CYP2D6	*18	PV01591	f	f
777938	173	CYP2D6	*2	PV00427	f	f
777972	173	CYP2D6	*20	PV01749	f	f
777974	173	CYP2D6	*21	PV02825	f	f
777976	173	CYP2D6	*22	PV00446	f	f
777980	173	CYP2D6	*24	PV00448	f	f
777982	173	CYP2D6	*25	PV00449	f	f
777984	173	CYP2D6	*26	PV00450	f	f
777986	173	CYP2D6	*27	PV00451	f	f
777990	173	CYP2D6	*29	PV00453	f	f
777940	173	CYP2D6	*3	PV00428	f	f
777992	173	CYP2D6	*30	PV00454	f	f
777996	173	CYP2D6	*32	PV00456	f	f
777998	173	CYP2D6	*33	PV00457	f	f
778000	173	CYP2D6	*34	PV00458	f	f
778002	173	CYP2D6	*35	PV00459	f	f
778004	173	CYP2D6	*36	PV02379	f	f
778006	173	CYP2D6	*37	PV00461	f	f
778008	173	CYP2D6	*38	PV01592	f	f
778010	173	CYP2D6	*39	PV00463	f	f
777942	173	CYP2D6	*4	PV00429	f	f
778012	173	CYP2D6	*40	PV00464	f	f
7219570	2	NAT2	*70	PV03001	f	f
7219572	2	NAT2	*71	PV03003	f	f
7219574	2	NAT2	*72	PV03005	f	f
7219576	2	NAT2	*73	PV03007	f	f
7219578	2	NAT2	*74	PV03011	f	f
7219580	2	NAT2	*75	PV03009	f	f
6237969	16	SLCO1B1	*50	PV02969	f	f
6237971	16	SLCO1B1	*51	PV02971	f	f
6237973	16	SLCO1B1	*52	PV02973	f	f
6237975	16	SLCO1B1	*53	PV02975	f	f
6237977	16	SLCO1B1	*54	PV02977	f	f
3827914	30	MT-RNR1	m.1537C>T	\N	f	f
3827916	30	MT-RNR1	m.1555A>G	\N	f	f
3827918	30	MT-RNR1	m.1556C>T	\N	f	f
6481200	12	NAT2	*10	PV02400	f	f
6481206	12	NAT2	*16	PV02403	f	f
6481210	12	NAT2	*21	PV02405	f	f
6481216	12	NAT2	*30	PV02408	f	f
6481220	12	NAT2	*32	PV02410	f	f
779406	97	TPMT	*6	\N	f	f
779418	97	TPMT	*12	\N	f	f
779420	97	TPMT	*13	\N	f	f
779422	97	TPMT	*14	\N	f	f
779424	97	TPMT	*15	\N	f	f
779426	97	TPMT	*16	\N	f	f
779428	97	TPMT	*17	\N	f	f
779430	97	TPMT	*18	\N	f	f
779432	97	TPMT	*19	\N	f	f
779434	97	TPMT	*20	\N	f	f
779436	97	TPMT	*21	\N	f	f
779438	97	TPMT	*22	\N	f	f
779440	97	TPMT	*23	\N	f	f
779442	97	TPMT	*24	\N	f	f
779444	97	TPMT	*25	\N	f	f
7221368	1	CYP2D6	*68+*4	\N	f	f
7221370	1	CYP2D6	*36+*10	\N	f	f
7221372	1	CYP2D6	*13+*1	\N	f	f
7221375	1	CYP2D6	*13+*2	\N	f	f
7221377	1	CYP2D6	*13+*68x2+*4	\N	f	f
777379	97	CFTR	S549R(A>C)	\N	f	f
778176	173	CYP2D6	*129	PV00684	f	f
778098	173	CYP2D6	*90	PV00507	f	f
777458	173	CYP2B6	*20	PV00758	f	f
777546	173	CYP2C19	*8	PV02136	f	f
778146	173	CYP2D6	*114	PV00531	f	f
777339	97	CFTR	F1074L	\N	f	f
779408	97	TPMT	*7	\N	f	f
778150	173	CYP2D6	*116	PV00533	f	f
779410	97	TPMT	*8	\N	f	f
3318597	72	CYP4F2	*14	PV02326	f	f
779412	97	TPMT	*9	\N	f	f
778156	173	CYP2D6	*119	PV00536	f	f
828095	96	MT-RNR1	Reference	\N	t	f
778164	173	CYP2D6	*123	PV00633	f	f
777674	173	CYP2C9	*4	PV00540	f	f
3827872	30	MT-RNR1	m.663A>G	\N	f	f
7221379	1	CYP2D6	*36x2+*10	\N	f	f
777488	173	CYP2B6	*35	PV00775	f	f
777688	173	CYP2C9	*11	PV00547	f	f
777710	173	CYP2C9	*22	PV00558	f	f
777696	173	CYP2C9	*15	PV00551	f	f
3827874	30	MT-RNR1	m.669T>C	\N	f	f
6481190	12	NAT2	*1	PV02395	t	f
778148	173	CYP2D6	*115	PV00532	f	f
6481236	12	NAT2	*40	PV02418	f	f
778152	173	CYP2D6	*117	PV00534	f	f
6481240	12	NAT2	*42	PV02420	f	f
778166	173	CYP2D6	*124	PV00634	f	f
778162	173	CYP2D6	*122	PV00632	f	f
778168	173	CYP2D6	*125	PV00681	f	f
778170	173	CYP2D6	*126	PV00682	f	f
778172	173	CYP2D6	*127	PV00635	f	f
6481246	12	NAT2	*45	PV02423	f	f
2784574	91	CYP4F2	*5	PV02223	f	f
3827876	30	MT-RNR1	m.747A>G	\N	f	f
3827878	30	MT-RNR1	m.786G>A	\N	f	f
3827880	30	MT-RNR1	m.807A>C	\N	f	f
3827882	30	MT-RNR1	m.807A>G	\N	f	f
3827884	30	MT-RNR1	m.827A>G	\N	f	f
777446	173	CYP2B6	*13	PV00751	f	f
3827886	30	MT-RNR1	m.839A>G	\N	f	f
3827888	30	MT-RNR1	m.896A>G	\N	f	f
3827892	30	MT-RNR1	m.951G>A	\N	f	f
3827894	30	MT-RNR1	m.960C>del	\N	f	f
6481262	12	NAT2	*53	PV02644	f	f
3827896	30	MT-RNR1	m.961T>G	\N	f	f
3827898	30	MT-RNR1	m.961T>del	\N	f	f
6481250	12	NAT2	*47	PV02425	f	f
3827900	30	MT-RNR1	m.961T>del+Cn	\N	f	f
3827902	30	MT-RNR1	m.988G>A	\N	f	f
6481194	12	NAT2	*5	PV02397	f	f
6481226	12	NAT2	*35	PV02413	f	f
6481228	12	NAT2	*36	PV02414	f	f
3827904	30	MT-RNR1	m.1095T>C	\N	f	f
3827906	30	MT-RNR1	m.1189T>C	\N	f	f
3827908	30	MT-RNR1	m.1243T>C	\N	f	f
3827910	30	MT-RNR1	m.1494C>T	\N	f	f
3827912	30	MT-RNR1	m.1520T>C	\N	f	f
6481272	12	NAT2	*58	PV02787	f	f
6481204	12	NAT2	*15	PV02402	f	f
779414	97	TPMT	*10	\N	f	f
779416	97	TPMT	*11	\N	f	f
779394	97	TPMT	*2	\N	f	f
6481218	12	NAT2	*31	PV02409	f	f
6481222	12	NAT2	*33	PV02411	f	f
6481230	12	NAT2	*37	PV02415	f	f
6481232	12	NAT2	*38	PV02416	f	f
6481192	12	NAT2	*4	PV02396	f	f
6481238	12	NAT2	*41	PV02419	f	f
6481256	12	NAT2	*50	PV02428	f	f
6481244	12	NAT2	*44	PV02422	f	f
6481196	12	NAT2	*6	PV02398	f	f
6481282	12	NAT2	*63	PV02797	f	f
6481248	12	NAT2	*46	PV02424	f	f
6481266	12	NAT2	*55	PV02776	f	f
6481254	12	NAT2	*49	PV02427	f	f
6481258	12	NAT2	*51	PV02640	f	f
6481208	12	NAT2	*19	PV02404	f	f
6481212	12	NAT2	*27	PV02406	f	f
6481264	12	NAT2	*54	PV02771	f	f
6481268	12	NAT2	*56	PV02783	f	f
6481274	12	NAT2	*59	PV02789	f	f
6481276	12	NAT2	*60	PV02791	f	f
6481280	12	NAT2	*62	PV02795	f	f
6481284	12	NAT2	*64	PV02799	f	f
779341	166	SLCO1B1	*33	PV01646	f	f
6481198	12	NAT2	*7	PV02399	f	f
779313	166	SLCO1B1	*19	PV01634	f	f
779329	166	SLCO1B1	*27	PV01640	f	f
1002691	157	SLCO1B1	*40	PV01652	f	f
1002705	157	SLCO1B1	*47	PV01659	f	f
779396	97	TPMT	*3A	\N	f	f
779392	97	TPMT	*1	\N	t	f
779398	97	TPMT	*3B	\N	f	f
779400	97	TPMT	*3C	\N	f	f
779402	97	TPMT	*4	\N	f	f
779404	97	TPMT	*5	\N	f	f
7221382	1	CYP2D6	*68+*2	\N	f	f
777262	97	CACNA1S	Reference	\N	t	f
777266	97	CACNA1S	c.3257G>A	\N	f	f
778218	173	CYP3A5	*1	PV01323	t	f
779488	97	UGT1A1	*1	\N	t	f
779490	97	UGT1A1	*6	\N	f	f
779492	97	UGT1A1	*27	\N	f	f
778222	173	CYP3A5	*3	PV01325	f	f
779494	97	UGT1A1	*28	\N	f	f
779496	97	UGT1A1	*36	\N	f	f
779498	97	UGT1A1	*37	\N	f	f
778230	173	CYP3A5	*7	PV01329	f	f
779500	97	UGT1A1	*80	\N	f	f
779502	97	UGT1A1	*80+*28	\N	f	f
778232	173	CYP3A5	*8	PV01330	f	f
778234	173	CYP3A5	*9	PV01331	f	f
779504	97	UGT1A1	*80+*37	\N	f	f
779064	172	NUDT15	*1	PV01597	t	f
779082	172	NUDT15	*10	PV01606	f	f
779507	97	VKORC1	rs9923231 reference (C)	\N	t	f
779509	97	VKORC1	rs9923231 variant (T)	\N	f	f
779084	172	NUDT15	*11	PV01607	f	f
779086	172	NUDT15	*12	PV01608	f	f
779088	172	NUDT15	*13	PV01609	f	f
779090	172	NUDT15	*14	PV01610	f	f
779160	97	RYR1	c.742G>A	\N	f	f
3685398	36	RYR1	c.1144C>A	\N	f	f
779092	172	NUDT15	*15	PV01611	f	f
779094	172	NUDT15	*16	PV01612	f	f
779096	172	NUDT15	*17	PV01613	f	f
779098	172	NUDT15	*18	PV01614	f	f
779100	172	NUDT15	*19	PV01615	f	f
779066	172	NUDT15	*2	PV01598	f	f
779102	172	NUDT15	*20	PV01616	f	f
5881976	22	NUDT15	*21	PV02804	f	f
779068	172	NUDT15	*3	PV01599	f	f
779070	172	NUDT15	*4	PV01600	f	f
779072	172	NUDT15	*5	PV01601	f	f
3685428	36	RYR1	c.1565A>G	\N	f	f
779074	172	NUDT15	*6	PV01602	f	f
779076	172	NUDT15	*7	PV01603	f	f
779078	172	NUDT15	*8	PV01604	f	f
1002699	157	SLCO1B1	*44	PV01656	f	f
3685458	36	RYR1	c.2537C>T	\N	f	f
3685488	36	RYR1	c.4024A>G	\N	f	f
3685520	36	RYR1	c.5440A>G	\N	f	f
3685550	36	RYR1	c.6488G>T	\N	f	f
3685580	36	RYR1	c.6743G>A	\N	f	f
779202	97	RYR1	c.7063C>T	\N	f	f
779206	97	RYR1	c.7282G>A	\N	f	f
3685646	36	RYR1	c.7292A>T	\N	f	f
779220	97	RYR1	c.7373G>A	\N	f	f
3685704	36	RYR1	c.7879G>C	\N	f	f
3685734	36	RYR1	c.8654C>G	\N	f	f
3685764	36	RYR1	c.9850T>A	\N	f	f
3685794	36	RYR1	c.11120G>T	\N	f	f
1508724	78	ABCG2	rs2231142 reference (G)	\N	t	f
3685824	36	RYR1	c.11958C>G	\N	f	f
3685854	36	RYR1	c.12533G>T	\N	f	f
3685884	36	RYR1	c.13918A>G	\N	f	f
3685914	36	RYR1	c.14422_14423delinsAA	\N	f	f
779446	97	TPMT	*26	\N	f	f
779448	97	TPMT	*27	\N	f	f
779450	97	TPMT	*28	\N	f	f
779452	97	TPMT	*29	\N	f	f
779454	97	TPMT	*30	\N	f	f
779456	97	TPMT	*31	\N	f	f
779458	97	TPMT	*32	\N	f	f
779460	97	TPMT	*33	\N	f	f
779462	97	TPMT	*34	\N	f	f
779464	97	TPMT	*35	\N	f	f
779466	97	TPMT	*36	\N	f	f
779468	97	TPMT	*37	\N	f	f
779470	97	TPMT	*38	\N	f	f
779472	97	TPMT	*39	\N	f	f
779474	97	TPMT	*40	\N	f	f
779476	97	TPMT	*41	\N	f	f
779478	97	TPMT	*42	\N	f	f
779480	97	TPMT	*43	\N	f	f
779482	97	TPMT	*44	\N	f	f
3685322	36	RYR1	c.152C>A	\N	f	f
778228	173	CYP3A5	*6	PV01328	f	f
3685320	36	RYR1	c.131G>A	\N	f	f
3685324	36	RYR1	c.178G>A	\N	f	f
3685326	36	RYR1	c.178G>T	\N	f	f
3318589	72	CYP4F2	*10	PV02318	f	f
3685328	36	RYR1	c.190T>C	\N	f	f
3685330	36	RYR1	c.212C>A	\N	f	f
3685332	36	RYR1	c.251C>T	\N	f	f
3685334	36	RYR1	c.418G>A	\N	f	f
3685336	36	RYR1	c.455C>A	\N	f	f
3685338	36	RYR1	c.463C>A	\N	f	f
3685340	36	RYR1	c.467G>A	\N	f	f
3685342	36	RYR1	c.479A>G	\N	f	f
779154	97	RYR1	c.487C>T	\N	f	f
779156	97	RYR1	c.488G>T	\N	f	f
3685348	36	RYR1	c.488G>A	\N	f	f
3685350	36	RYR1	c.493G>A	\N	f	f
3685352	36	RYR1	c.496G>A	\N	f	f
3685354	36	RYR1	c.497A>G	\N	f	f
3685356	36	RYR1	c.526G>A	\N	f	f
3685358	36	RYR1	c.528G>T	\N	f	f
3685538	36	RYR1	c.6387C>G	\N	f	f
3685360	36	RYR1	c.529C>T	\N	f	f
3685362	36	RYR1	c.533A>G	\N	f	f
3685364	36	RYR1	c.533A>C	\N	f	f
3685368	36	RYR1	c.641C>T	\N	f	f
3685370	36	RYR1	c.652G>A	\N	f	f
3685372	36	RYR1	c.677T>A	\N	f	f
3685374	36	RYR1	c.680A>T	\N	f	f
779158	97	RYR1	c.742G>C	\N	f	f
3685380	36	RYR1	c.946C>T	\N	f	f
3685382	36	RYR1	c.947G>T	\N	f	f
779162	97	RYR1	c.982C>T	\N	f	f
3685386	36	RYR1	c.992_994dup	\N	f	f
779164	97	RYR1	c.1021G>A	\N	f	f
779166	97	RYR1	c.1021G>C	\N	f	f
3685392	36	RYR1	c.1024G>A	\N	f	f
3685394	36	RYR1	c.1100G>A	\N	f	f
3685396	36	RYR1	c.1100G>T	\N	f	f
779168	97	RYR1	c.1201C>T	\N	f	f
3685402	36	RYR1	c.1201C>A	\N	f	f
3685404	36	RYR1	c.1201C>G	\N	f	f
3685406	36	RYR1	c.1202G>T	\N	f	f
3685408	36	RYR1	c.1202G>A	\N	f	f
779170	97	RYR1	c.1209C>G	\N	f	f
3685412	36	RYR1	c.1411C>T	\N	f	f
3685414	36	RYR1	c.1422G>T	\N	f	f
3685416	36	RYR1	c.1453A>G	\N	f	f
3685418	36	RYR1	c.1459C>G	\N	f	f
3685420	36	RYR1	c.1460T>C	\N	f	f
3685422	36	RYR1	c.1475G>A	\N	f	f
3685424	36	RYR1	c.1553T>C	\N	f	f
779172	97	RYR1	c.1565A>C	\N	f	f
779174	97	RYR1	c.1589G>A	\N	f	f
779176	97	RYR1	c.1597C>T	\N	f	f
3685434	36	RYR1	c.1597C>A	\N	f	f
779178	97	RYR1	c.1598G>A	\N	f	f
3685438	36	RYR1	c.1615T>C	\N	f	f
3685440	36	RYR1	c.1615T>G	\N	f	f
3685442	36	RYR1	c.1630G>T	\N	f	f
779180	97	RYR1	c.1654C>T	\N	f	f
3685446	36	RYR1	c.1834G>C	\N	f	f
779182	97	RYR1	c.1840C>T	\N	f	f
779184	97	RYR1	c.1841G>T	\N	f	f
3685452	36	RYR1	c.2050G>C	\N	f	f
3685454	36	RYR1	c.2122G>A	\N	f	f
3685456	36	RYR1	c.2447C>T	\N	f	f
3685460	36	RYR1	c.2654G>A	\N	f	f
3685462	36	RYR1	c.2797G>A	\N	f	f
3685464	36	RYR1	c.2924G>A	\N	f	f
3685466	36	RYR1	c.2996G>A	\N	f	f
3685468	36	RYR1	c.3095G>A	\N	f	f
3685470	36	RYR1	c.3127C>T	\N	f	f
3685472	36	RYR1	c.3166G>C	\N	f	f
3685474	36	RYR1	c.3166G>A	\N	f	f
3685476	36	RYR1	c.3172G>A	\N	f	f
3685478	36	RYR1	c.3224G>A	\N	f	f
3685480	36	RYR1	c.3418C>T	\N	f	f
3685482	36	RYR1	c.3527C>T	\N	f	f
3685484	36	RYR1	c.3656A>C	\N	f	f
3685486	36	RYR1	c.3667G>A	\N	f	f
3685490	36	RYR1	c.4178A>G	\N	f	f
3685492	36	RYR1	c.4400A>G	\N	f	f
3685494	36	RYR1	c.4711A>G	\N	f	f
3685496	36	RYR1	c.4747C>T	\N	f	f
3685498	36	RYR1	c.4763C>T	\N	f	f
3685500	36	RYR1	c.4775C>T	\N	f	f
3685502	36	RYR1	c.5024T>C	\N	f	f
3685504	36	RYR1	c.5033A>G	\N	f	f
3685506	36	RYR1	c.5036G>A	\N	f	f
3685508	36	RYR1	c.5132A>G	\N	f	f
3685510	36	RYR1	c.5183C>T	\N	f	f
3685512	36	RYR1	c.5186T>G	\N	f	f
3685514	36	RYR1	c.5317C>T	\N	f	f
3685516	36	RYR1	c.5341T>C	\N	f	f
3685518	36	RYR1	c.5360C>T	\N	f	f
3685522	36	RYR1	c.5441T>A	\N	f	f
3685524	36	RYR1	c.5890C>T	\N	f	f
3685526	36	RYR1	c.6037A>C	\N	f	f
3685528	36	RYR1	c.6178G>T	\N	f	f
3685530	36	RYR1	c.6302T>A	\N	f	f
3685532	36	RYR1	c.6304G>C	\N	f	f
3685534	36	RYR1	c.6349G>C	\N	f	f
3685536	36	RYR1	c.6377G>A	\N	f	f
3685540	36	RYR1	c.6388G>A	\N	f	f
3685542	36	RYR1	c.6478G>A	\N	f	f
779186	97	RYR1	c.6487C>T	\N	f	f
779188	97	RYR1	c.6488G>A	\N	f	f
3685548	36	RYR1	c.6488G>C	\N	f	f
779190	97	RYR1	c.6502G>A	\N	f	f
3685554	36	RYR1	c.6544A>T	\N	f	f
3685556	36	RYR1	c.6548G>A	\N	f	f
3685558	36	RYR1	c.6599C>T	\N	f	f
3685982	36	RYR1	c.15060G>C	\N	f	f
3685984	36	RYR1	c.14364+1G>T	\N	f	f
778104	173	CYP2D6	*93	PV00510	f	f
778238	172	CYP4F2	*1	PV02212	t	f
3318591	72	CYP4F2	*11	PV02320	f	f
3685312	36	RYR1	c.97A>G	\N	f	f
779150	97	RYR1	c.103T>C	\N	f	f
3685316	36	RYR1	c.119G>C	\N	f	f
779152	97	RYR1	c.130C>T	\N	f	f
3685310	36	RYR1	c.51_53del	\N	f	f
779148	97	RYR1	Reference	\N	t	f
3685308	36	RYR1	c.38T>G	\N	f	f
778385	97	DPYD	c.1218G>A	\N	f	f
778413	97	DPYD	c.1601G>A (*4)	\N	f	f
778427	97	DPYD	c.1777G>A	\N	f	f
778429	97	DPYD	c.1796T>C	\N	f	f
778431	97	DPYD	c.1896T>C	\N	f	f
778449	97	DPYD	c.2194G>A (*6)	\N	f	f
778451	97	DPYD	c.2195T>G	\N	f	f
778455	97	DPYD	c.2303C>A	\N	f	f
778457	97	DPYD	c.2336C>A	\N	f	f
778399	97	DPYD	c.1371C>T	\N	f	f
778415	97	DPYD	c.1615G>A	\N	f	f
778417	97	DPYD	c.1627A>G (*5)	\N	f	f
778459	97	DPYD	c.2482G>A	\N	f	f
778461	97	DPYD	c.2582A>G	\N	f	f
778361	97	DPYD	c.868A>G	\N	f	f
778465	97	DPYD	c.2639G>T	\N	f	f
778467	97	DPYD	c.2656C>T	\N	f	f
778469	97	DPYD	c.2657G>A (*9B)	\N	f	f
778471	97	DPYD	c.2846A>T	\N	f	f
778473	97	DPYD	c.2872A>G	\N	f	f
778375	97	DPYD	c.1108A>G	\N	f	f
778363	97	DPYD	c.929T>C	\N	f	f
778433	97	DPYD	c.1898delC (*3)	\N	f	f
778437	97	DPYD	c.1905+1G>A (*2A)	\N	f	f
778401	97	DPYD	c.1403C>A	\N	f	f
3942827	29	DPYD	c.1129-5923C>G	\N	f	f
778445	97	DPYD	c.2161G>A	\N	f	f
778475	97	DPYD	c.2915A>G	\N	f	f
778479	97	DPYD	c.2933A>G	\N	f	f
778481	97	DPYD	c.2978T>G	\N	f	f
778487	97	DPYD	c.3049G>A	\N	f	f
778489	97	DPYD	c.3061G>C	\N	f	f
778491	97	DPYD	c.3067C>A	\N	f	f
3685366	36	RYR1	c.625G>A	\N	f	f
779192	97	RYR1	c.6617C>G	\N	f	f
779194	97	RYR1	c.6617C>T	\N	f	f
3685566	36	RYR1	c.6628G>T	\N	f	f
3685568	36	RYR1	c.6635T>A	\N	f	f
3685570	36	RYR1	c.6640G>A	\N	f	f
3685572	36	RYR1	c.6671G>A	\N	f	f
778345	97	DPYD	c.496A>G	\N	f	f
3685574	36	RYR1	c.6670C>T	\N	f	f
3685576	36	RYR1	c.6710G>A	\N	f	f
3685578	36	RYR1	c.6742C>T	\N	f	f
3685582	36	RYR1	c.6757C>T	\N	f	f
3685584	36	RYR1	c.6838G>A	\N	f	f
3685586	36	RYR1	c.6847A>C	\N	f	f
3685588	36	RYR1	c.6961A>G	\N	f	f
779196	97	RYR1	c.7007G>A	\N	f	f
3685592	36	RYR1	c.7018T>C	\N	f	f
2899144	87	CYP2B6	*40	PV02268	f	f
2899160	87	CYP2B6	*48	PV02284	f	f
777586	173	CYP2C19	*31	PV00625	f	f
777596	168	CYP2C19	*36	PV00730	f	t
777668	173	CYP2C9	*1	PV00537	t	f
777708	173	CYP2C9	*21	PV00557	f	f
777718	173	CYP2C9	*26	PV00562	f	f
777736	173	CYP2C9	*35	PV00571	f	f
777754	173	CYP2C9	*44	PV00580	f	f
778158	173	CYP2D6	*120	PV00630	f	f
777960	168	CYP2D6	*13	PV00438	f	t
778194	173	CYP2D6	*138	PV00722	f	f
778198	173	CYP2D6	*140	PV01361	f	f
2091248	117	CYP2D6	*158	PV01951	f	f
2091240	117	CYP2D6	*154	PV01934	f	f
2677041	95	CYP2D6	*165	PV02201	f	f
778327	97	DPYD	Reference	\N	t	f
778329	97	DPYD	c.46C>G	\N	f	f
778331	97	DPYD	c.61C>T	\N	f	f
778333	97	DPYD	c.62G>A	\N	f	f
778335	97	DPYD	c.85T>C (*9A)	\N	f	f
778347	97	DPYD	c.498G>A	\N	f	f
778339	97	DPYD	c.313G>A	\N	f	f
778349	97	DPYD	c.525G>A	\N	f	f
778351	97	DPYD	c.557A>G	\N	f	f
778353	97	DPYD	c.601A>C	\N	f	f
778355	97	DPYD	c.632A>G	\N	f	f
778365	97	DPYD	c.934C>T	\N	f	f
778367	97	DPYD	c.967G>A	\N	f	f
778369	97	DPYD	c.1003G>T (*11)	\N	f	f
778371	97	DPYD	c.1024G>A	\N	f	f
778341	97	DPYD	c.343A>G	\N	f	f
778373	97	DPYD	c.1057C>T	\N	f	f
777808	173	CYP2C9	*71	PV01444	f	f
1932995	123	CYP2C9	*81	PV01790	f	f
778134	173	CYP2D6	*108	PV00525	f	f
778357	97	DPYD	c.703C>T (*8)	\N	f	f
778154	173	CYP2D6	*118	PV00535	f	f
778377	97	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	\N	f	f
778379	97	DPYD	c.1156G>T (*12)	\N	f	f
778381	97	DPYD	c.1180C>T	\N	f	f
778383	97	DPYD	c.1181G>T	\N	f	f
778403	97	DPYD	c.1475C>T	\N	f	f
778387	97	DPYD	c.1260T>A	\N	f	f
778405	97	DPYD	c.1484A>G	\N	f	f
778407	97	DPYD	c.1519G>A	\N	f	f
778409	97	DPYD	c.1543G>A	\N	f	f
778419	97	DPYD	c.1679T>G (*13)	\N	f	f
778389	97	DPYD	c.1278G>T	\N	f	f
778391	97	DPYD	c.1294G>A	\N	f	f
778393	97	DPYD	c.1314T>G	\N	f	f
778395	97	DPYD	c.1349C>T	\N	f	f
778397	97	DPYD	c.1358C>G	\N	f	f
778421	97	DPYD	c.1682G>T	\N	f	f
778411	97	DPYD	c.1577C>G	\N	f	f
778423	97	DPYD	c.1774C>T	\N	f	f
778463	97	DPYD	c.2623A>C	\N	f	f
778477	97	DPYD	c.2921A>T	\N	f	f
778425	97	DPYD	c.1775G>A	\N	f	f
778447	97	DPYD	c.2186C>T	\N	f	f
3685560	36	RYR1	c.6612C>G	\N	f	f
778343	97	DPYD	c.451A>G	\N	f	f
778359	97	DPYD	c.775A>G	\N	f	f
777422	173	CYP2B6	*1	PV00738	t	f
777424	173	CYP2B6	*2	PV00740	f	f
777426	173	CYP2B6	*3	PV00741	f	f
1508726	78	ABCG2	rs2231142 variant (T)	\N	f	f
777264	97	CACNA1S	c.520C>T	\N	f	f
777315	97	CFTR	711+3A->G	\N	f	f
777309	97	CFTR	2789+5G->A	\N	f	f
777311	97	CFTR	3272-26A->G	\N	f	f
777313	97	CFTR	3849+10kbC->T	\N	f	f
777319	97	CFTR	A455E	\N	f	f
777317	97	CFTR	A1067T	\N	f	f
777321	97	CFTR	D110E	\N	f	f
777323	97	CFTR	D110H	\N	f	f
777329	97	CFTR	D579G	\N	f	f
777325	97	CFTR	D1152H	\N	f	f
777327	97	CFTR	D1270N	\N	f	f
777331	97	CFTR	E193K	\N	f	f
777335	97	CFTR	E831X	\N	f	f
777337	97	CFTR	F1052V	\N	f	f
777347	97	CFTR	G178R	\N	f	f
777349	97	CFTR	G551D	\N	f	f
777351	97	CFTR	G551S	\N	f	f
777341	97	CFTR	G1069R	\N	f	f
777343	97	CFTR	G1244E	\N	f	f
777345	97	CFTR	G1349D	\N	f	f
777353	97	CFTR	K1060T	\N	f	f
777355	97	CFTR	L206W	\N	f	f
777371	97	CFTR	R74W	\N	f	f
777363	97	CFTR	R117C	\N	f	f
777365	97	CFTR	R117H	\N	f	f
777367	97	CFTR	R347H	\N	f	f
777369	97	CFTR	R352Q	\N	f	f
777359	97	CFTR	R1070Q	\N	f	f
777361	97	CFTR	R1070W	\N	f	f
777377	97	CFTR	S549N	\N	f	f
777381	97	CFTR	S549R(T>G)	\N	f	f
777383	97	CFTR	S945L	\N	f	f
777385	97	CFTR	S977F	\N	f	f
777373	97	CFTR	S1251N	\N	f	f
777375	97	CFTR	S1255P	\N	f	f
777582	173	CYP2C19	*29	PV00623	f	f
777584	173	CYP2C19	*30	PV02141	f	f
777588	173	CYP2C19	*32	PV00626	f	f
777590	173	CYP2C19	*33	PV00627	f	f
778160	173	CYP2D6	*121	PV00631	f	f
778174	173	CYP2D6	*128	PV01408	f	f
6481202	12	NAT2	*14	PV02401	f	f
6481214	12	NAT2	*29	PV02407	f	f
6481224	12	NAT2	*34	PV02412	f	f
6481234	12	NAT2	*39	PV02417	f	f
6481242	12	NAT2	*43	PV02421	f	f
6481252	12	NAT2	*48	PV02426	f	f
6481260	12	NAT2	*52	PV02642	f	f
6481270	12	NAT2	*57	PV02785	f	f
6481278	12	NAT2	*61	PV02793	f	f
779295	166	SLCO1B1	*10	PV01627	f	f
778100	173	CYP2D6	*91	PV00508	f	f
778102	173	CYP2D6	*92	PV00509	f	f
778106	173	CYP2D6	*94	PV00511	f	f
778110	173	CYP2D6	*96	PV00513	f	f
777307	97	CFTR	ivacaftor non-responsive CFTR sequence	\N	t	f
6606011	5	CFTR	F508C,S1251N	\N	f	f
778439	97	DPYD	c.1906A>C	\N	f	f
778441	97	DPYD	c.1990G>T	\N	f	f
778443	97	DPYD	c.2021G>A	\N	f	f
778666	98	G6PD	B (reference)	\N	t	f
778748	97	G6PD	A- 680T_376G	\N	f	f
778750	97	G6PD	A- 968C_376G	\N	f	f
778916	97	G6PD	Aachen	\N	f	f
778962	97	G6PD	Abeno	\N	f	f
778950	97	G6PD	Alhambra	\N	f	f
778702	97	G6PD	Amazonia	\N	f	f
779006	97	G6PD	Amiens	\N	f	f
778700	97	G6PD	Amsterdam	\N	f	f
778956	97	G6PD	Anadia	\N	f	f
778746	97	G6PD	Ananindeua	\N	f	f
779036	97	G6PD	Arakawa	\N	f	f
778708	97	G6PD	Asahi	\N	f	f
778686	97	G6PD	Aures	\N	f	f
778836	97	G6PD	Aveiro	\N	f	f
778858	97	G6PD	Bajo Maumere	\N	f	f
778844	97	G6PD	Bangkok	\N	f	f
779008	97	G6PD	Bangkok Noi	\N	f	f
778738	97	G6PD	Bao Loc	\N	f	f
778952	97	G6PD	Bari	\N	f	f
778766	97	G6PD	Belem	\N	f	f
779034	97	G6PD	Buenos Aires	\N	f	f
778762	97	G6PD	Cairo	\N	f	f
778922	97	G6PD	Calvo Mackenna	\N	f	f
779032	97	G6PD	Campinas	\N	f	f
779012	97	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	\N	f	f
778994	97	G6PD	Cassano	\N	f	f
778894	97	G6PD	Chatham	\N	f	f
778794	97	G6PD	Chikugo	\N	f	f
778854	97	G6PD	Chinese-1	\N	f	f
778900	97	G6PD	Chinese-5	\N	f	f
778816	97	G6PD	Cincinnati	\N	f	f
778840	97	G6PD	Cleveland Corum	\N	f	f
779004	97	G6PD	Figuera da Foz	\N	f	f
779018	97	G6PD	Flores	\N	f	f
779030	97	G6PD	Fukaya	\N	f	f
778896	97	G6PD	Fushan	\N	f	f
778674	97	G6PD	Gaohe	\N	f	f
778978	97	G6PD	Georgia	\N	f	f
778680	97	G6PD	Gidra	\N	f	f
778936	97	G6PD	Guadalajara	\N	f	f
778726	97	G6PD	Guangzhou	\N	f	f
778852	97	G6PD	Haikou	\N	f	f
778734	97	G6PD	Hammersmith	\N	f	f
778818	97	G6PD	Harilaou	\N	f	f
778830	97	G6PD	Durham	\N	f	f
778888	97	G6PD	Farroupilha	\N	f	f
778998	97	G6PD	Harima	\N	f	f
778940	97	G6PD	Hartford	\N	f	f
778710	97	G6PD	Hechi	\N	f	f
778996	97	G6PD	Hermoupolis	\N	f	f
778676	97	G6PD	Honiara	\N	f	f
778770	97	G6PD	Ilesha	\N	f	f
778890	97	G6PD	Insuli	\N	f	f
778934	97	G6PD	Iowa, Walter Reed, Springfield	\N	f	f
778908	97	G6PD	Iwatsuki	\N	f	f
778970	97	G6PD	Japan, Shinagawa	\N	f	f
779022	97	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	\N	f	f
778880	97	G6PD	Kalyan-Kerala, Jamnaga, Rohini	\N	f	f
778688	97	G6PD	Kambos	\N	f	f
779016	97	G6PD	Kamiube, Keelung	\N	f	f
778692	97	G6PD	Kamogawa	\N	f	f
778972	97	G6PD	Kawasaki	\N	f	f
778690	97	G6PD	Kozukata	\N	f	f
778944	97	G6PD	Krakow	\N	f	f
778848	97	G6PD	La Jolla	\N	f	f
778672	97	G6PD	Lages	\N	f	f
779026	97	G6PD	Laibin	\N	f	f
778842	97	G6PD	Lille	\N	f	f
778768	97	G6PD	Liuzhou	\N	f	f
778914	97	G6PD	Loma Linda	\N	f	f
778878	97	G6PD	Ludhiana	\N	f	f
778930	97	G6PD	Lynwood	\N	f	f
778932	97	G6PD	Madrid	\N	f	f
778776	97	G6PD	Mahidol	\N	f	f
778796	97	G6PD	Malaga	\N	f	f
778884	97	G6PD	Manhattan	\N	f	f
778984	97	G6PD	Mediterranean Haplotype	\N	f	f
778696	97	G6PD	Metaponto	\N	f	f
778822	97	G6PD	Mexico City	\N	f	f
778790	97	G6PD	Miaoli	\N	f	f
778814	97	G6PD	Minnesota, Marion, Gastonia, LeJeune	\N	f	f
778902	97	G6PD	Mira d'Aire	\N	f	f
778860	97	G6PD	Mizushima	\N	f	f
778868	97	G6PD	Montalbano	\N	f	f
778920	97	G6PD	Montpellier	\N	f	f
778754	97	G6PD	Mt Sinai	\N	f	f
778974	97	G6PD	Munich	\N	f	f
778718	97	G6PD	Murcia Oristano	\N	f	f
778704	97	G6PD	Musashino	\N	f	f
778716	97	G6PD	Namouru	\N	f	f
778788	97	G6PD	Nankang	\N	f	f
778828	97	G6PD	Nanning	\N	f	f
778784	97	G6PD	Naone	\N	f	f
778882	97	G6PD	Nara	\N	f	f
778948	97	G6PD	Nashville, Anaheim, Portici	\N	f	f
779024	97	G6PD	Neapolis	\N	f	f
779014	97	G6PD	Nice	\N	f	f
778808	97	G6PD	Nilgiri	\N	f	f
778668	97	G6PD	No name	\N	f	f
778824	97	G6PD	North Dallas	\N	f	f
778926	97	G6PD	Olomouc	\N	f	f
778876	97	G6PD	Omiya	\N	f	f
778684	97	G6PD	Orissa	\N	f	f
778866	97	G6PD	Osaka	\N	f	f
778694	97	G6PD	Palestrina	\N	f	f
778862	97	G6PD	Papua	\N	f	f
778904	97	G6PD	Partenope	\N	f	f
778986	97	G6PD	Pawnee	\N	f	f
778864	97	G6PD	Piotrkow	\N	f	f
778778	97	G6PD	Plymouth	\N	f	f
778942	97	G6PD	Praha	\N	f	f
778760	97	G6PD	Quing Yan	\N	f	f
778820	97	G6PD	Radlowo	\N	f	f
778886	97	G6PD	Rehevot	\N	f	f
778682	97	G6PD	Rignano	\N	f	f
778924	97	G6PD	Riley	\N	f	f
778968	97	G6PD	Riverside	\N	f	f
778838	97	G6PD	Roubaix	\N	f	f
778992	97	G6PD	S. Antioco	\N	f	f
778758	97	G6PD	Salerno Pyrgos	\N	f	f
778806	97	G6PD	Santiago	\N	f	f
778736	97	G6PD	Sao Borja	\N	f	f
778856	97	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	\N	f	f
778874	97	G6PD	Seoul	\N	f	f
778910	97	G6PD	Serres	\N	f	f
778772	97	G6PD	Shenzen	\N	f	f
778792	97	G6PD	Shinshu	\N	f	f
778812	97	G6PD	Sibari	\N	f	f
778730	97	G6PD	Sierra Leone	\N	f	f
778670	97	G6PD	Sinnai	\N	f	f
778706	97	G6PD	Songklanagarind	\N	f	f
779028	97	G6PD	Split	\N	f	f
778832	97	G6PD	Stonybrook	\N	f	f
778846	97	G6PD	Sugao	\N	f	f
778982	97	G6PD	Sumare	\N	f	f
778678	97	G6PD	Sunderland	\N	f	f
778980	97	G6PD	Surabaya	\N	f	f
778966	97	G6PD	Suwalki	\N	f	f
778720	97	G6PD	Swansea	\N	f	f
3564276	38	G6PD	Telti, Kobe	\N	f	f
778918	97	G6PD	Tenri	\N	f	f
778976	97	G6PD	Tokyo, Fukushima	\N	f	f
778782	97	G6PD	Toledo	\N	f	f
778928	97	G6PD	Tomah	\N	f	f
778912	97	G6PD	Tondela	\N	f	f
778898	97	G6PD	Torun	\N	f	f
778798	97	G6PD	Tsukui	\N	f	f
778722	97	G6PD	Ube Konan	\N	f	f
779000	97	G6PD	Union,Maewo, Chinese-2, Kalo	\N	f	f
778728	97	G6PD	Urayasu	\N	f	f
778964	97	G6PD	Utrecht	\N	f	f
778764	97	G6PD	Valladolid	\N	f	f
778732	97	G6PD	Vancouver	\N	f	f
778756	97	G6PD	Vanua Lava	\N	f	f
778870	97	G6PD	Viangchan, Jammu	\N	f	f
778892	97	G6PD	Villeurbanne	\N	f	f
778786	97	G6PD	Volendam	\N	f	f
778834	97	G6PD	Wayne	\N	f	f
778850	97	G6PD	Wexham	\N	f	f
778960	97	G6PD	Clinic	\N	f	f
778804	97	G6PD	Coimbra Shunde	\N	f	f
779010	97	G6PD	Cosenza	\N	f	f
778698	97	G6PD	Costanzo	\N	f	f
778958	97	G6PD	Covao do Lobo	\N	f	f
778740	97	G6PD	Crispim	\N	f	f
778810	97	G6PD	Dagua	\N	f	f
3685608	36	RYR1	c.7060G>A	\N	f	f
3685612	36	RYR1	c.7073T>A	\N	f	f
3685614	36	RYR1	c.7076G>A	\N	f	f
3685616	36	RYR1	c.7075C>T	\N	f	f
3685618	36	RYR1	c.7084G>A	\N	f	f
3685620	36	RYR1	c.7085A>G	\N	f	f
3685604	36	RYR1	c.7043A>G	\N	f	f
779200	97	RYR1	c.7048G>A	\N	f	f
3685622	36	RYR1	c.7089C>G	\N	f	f
3685624	36	RYR1	c.7090T>G	\N	f	f
3685626	36	RYR1	c.7097C>G	\N	f	f
3685628	36	RYR1	c.7099G>A	\N	f	f
3685630	36	RYR1	c.7112A>G	\N	f	f
3685632	36	RYR1	c.7123G>A	\N	f	f
779204	97	RYR1	c.7124G>C	\N	f	f
3685636	36	RYR1	c.7199A>G	\N	f	f
3685638	36	RYR1	c.7210G>A	\N	f	f
3685642	36	RYR1	c.7291G>A	\N	f	f
3685644	36	RYR1	c.7291G>T	\N	f	f
779208	97	RYR1	c.7300G>A	\N	f	f
779210	97	RYR1	c.7304G>A	\N	f	f
3685652	36	RYR1	c.7304G>T	\N	f	f
3685654	36	RYR1	c.7307G>A	\N	f	f
3685656	36	RYR1	c.7310C>T	\N	f	f
3685658	36	RYR1	c.7317G>C	\N	f	f
779212	97	RYR1	c.7354C>T	\N	f	f
3685662	36	RYR1	c.7355G>A	\N	f	f
3685664	36	RYR1	c.7355G>C	\N	f	f
3685666	36	RYR1	c.7358T>C	\N	f	f
779214	97	RYR1	c.7360C>T	\N	f	f
779216	97	RYR1	c.7361G>A	\N	f	f
779218	97	RYR1	c.7372C>T	\N	f	f
3685676	36	RYR1	c.7373G>T	\N	f	f
3685678	36	RYR1	c.7385C>T	\N	f	f
3685680	36	RYR1	c.7487C>T	\N	f	f
779222	97	RYR1	c.7522C>T	\N	f	f
779224	97	RYR1	c.7522C>G	\N	f	f
779226	97	RYR1	c.7523G>A	\N	f	f
3685688	36	RYR1	c.7528T>C	\N	f	f
3685690	36	RYR1	c.7760A>G	\N	f	f
3685692	36	RYR1	c.7771C>G	\N	f	f
3685696	36	RYR1	c.7777C>G	\N	f	f
3685698	36	RYR1	c.7778G>A	\N	f	f
3685700	36	RYR1	c.7787C>T	\N	f	f
3685702	36	RYR1	c.7816T>A	\N	f	f
3685706	36	RYR1	c.7879G>A	\N	f	f
3685708	36	RYR1	c.8005G>A	\N	f	f
3685710	36	RYR1	c.8026C>T	\N	f	f
3685712	36	RYR1	c.8054C>T	\N	f	f
3685714	36	RYR1	c.8188G>C	\N	f	f
3685716	36	RYR1	c.8189A>G	\N	f	f
3685718	36	RYR1	c.8198G>A	\N	f	f
3685720	36	RYR1	c.8290G>A	\N	f	f
3685722	36	RYR1	c.8327C>T	\N	f	f
3685724	36	RYR1	c.8360C>G	\N	f	f
3685728	36	RYR1	c.8527T>C	\N	f	f
3685730	36	RYR1	c.8600T>A	\N	f	f
3685732	36	RYR1	c.8638G>A	\N	f	f
3685736	36	RYR1	c.8729C>T	\N	f	f
3685738	36	RYR1	c.8926C>T	\N	f	f
3685740	36	RYR1	c.9152G>A	\N	f	f
3685742	36	RYR1	c.9268G>A	\N	f	f
779228	97	RYR1	c.9310G>A	\N	f	f
3685746	36	RYR1	c.9356G>A	\N	f	f
3685748	36	RYR1	c.9499C>T	\N	f	f
3685750	36	RYR1	c.9635A>G	\N	f	f
3685752	36	RYR1	c.9649T>C	\N	f	f
3685754	36	RYR1	c.9652G>A	\N	f	f
3685756	36	RYR1	c.9676G>C	\N	f	f
3685760	36	RYR1	c.9797T>C	\N	f	f
3685762	36	RYR1	c.9848G>A	\N	f	f
3685766	36	RYR1	c.9868G>A	\N	f	f
3685768	36	RYR1	c.10042C>T	\N	f	f
3685770	36	RYR1	c.10043G>A	\N	f	f
3685772	36	RYR1	c.10097G>A	\N	f	f
3685774	36	RYR1	c.10100A>G	\N	f	f
3685776	36	RYR1	c.10229C>A	\N	f	f
3685778	36	RYR1	c.10237A>T	\N	f	f
3685780	36	RYR1	c.10252A>G	\N	f	f
3685782	36	RYR1	c.10556C>T	\N	f	f
3685784	36	RYR1	c.10616G>A	\N	f	f
3685786	36	RYR1	c.10747G>C	\N	f	f
3685788	36	RYR1	c.10750G>C	\N	f	f
3685792	36	RYR1	c.11086G>C	\N	f	f
3685796	36	RYR1	c.11126C>T	\N	f	f
3685798	36	RYR1	c.11132C>T	\N	f	f
3685800	36	RYR1	c.11266C>G	\N	f	f
3685802	36	RYR1	c.11315G>A	\N	f	f
3685804	36	RYR1	c.11314C>T	\N	f	f
3685806	36	RYR1	c.11416G>A	\N	f	f
3685808	36	RYR1	c.11518G>A	\N	f	f
3685810	36	RYR1	c.11708G>A	\N	f	f
3685812	36	RYR1	c.11723A>T	\N	f	f
3685814	36	RYR1	c.11748T>G	\N	f	f
3685816	36	RYR1	c.11798A>G	\N	f	f
3685818	36	RYR1	c.11813G>A	\N	f	f
3685820	36	RYR1	c.11947C>T	\N	f	f
779230	97	RYR1	c.11969G>T	\N	f	f
3685828	36	RYR1	c.12028G>A	\N	f	f
3685830	36	RYR1	c.12064A>G	\N	f	f
3685832	36	RYR1	c.12115A>T	\N	f	f
3685834	36	RYR1	c.12121C>T	\N	f	f
3685836	36	RYR1	c.12149C>A	\N	f	f
3685838	36	RYR1	c.12242C>T	\N	f	f
3685840	36	RYR1	c.12310G>C	\N	f	f
3685842	36	RYR1	c.12355A>T	\N	f	f
3685844	36	RYR1	c.12383C>T	\N	f	f
3685846	36	RYR1	c.12398A>G	\N	f	f
3685848	36	RYR1	c.12406C>A	\N	f	f
3685850	36	RYR1	c.12413T>C	\N	f	f
3685852	36	RYR1	c.12532G>A	\N	f	f
3685858	36	RYR1	c.12689T>G	\N	f	f
3685860	36	RYR1	c.12700G>C	\N	f	f
3685862	36	RYR1	c.12700G>T	\N	f	f
3685864	36	RYR1	c.12848A>T	\N	f	f
3685866	36	RYR1	c.12881C>T	\N	f	f
3685868	36	RYR1	c.12884C>T	\N	f	f
3685870	36	RYR1	c.13505A>G	\N	f	f
3685872	36	RYR1	c.13513G>C	\N	f	f
778946	97	G6PD	Wisconsin	\N	f	f
779020	97	G6PD	Yunan	\N	f	f
3685594	36	RYR1	c.7025A>G	\N	f	f
3685596	36	RYR1	c.7032G>C	\N	f	f
3685598	36	RYR1	c.7035C>A	\N	f	f
3685600	36	RYR1	c.7036G>A	\N	f	f
779198	97	RYR1	c.7042_7044delGAG	\N	f	f
\.


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