778151	329	CYP2D6	*116	\N	Unknown function	\N	n/a	778150	{}	No Evidence	\N	CYP2D6*116 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
778448	315	DPYD	c.2186C>T	Normal function	Normal function	\N	1.0	778447	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00001364734, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778109	330	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
778113	330	CYP2D6	*97	\N	Uncertain function	\N	n/a	778112	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*97 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*97 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
778155	329	CYP2D6	*118	\N	Unknown function	\N	n/a	778154	{}	No Evidence	\N	CYP2D6*118 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778779	286	G6PD	Plymouth	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778778	{22293322,7577654}	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
778875	286	G6PD	Seoul	II/Deficient	II/Deficient	\N	\N	778874	{22293322,28028996,1945893}	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
778813	286	G6PD	Sibari	III/Deficient	III/Deficient	\N	\N	778812	{22293322,8447319}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000010243173, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.000036485697}	f
778187	329	CYP2D6	*134	\N	Uncertain function	\N	n/a	778186	{32759992}	Inadequate	\N	CYP2D6*134 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated intrinsic clearance CLint (Vmax/Km) of 104.5% and 81.2 % compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively, suggesting normal activity (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
779019	286	G6PD	Flores	II/Deficient	II/Deficient	\N	\N	779018	{22293322,15065213}	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
779688	278	CYP2D6	*1x2	\N	Increased function	\N	2.0	777936	{7616439,9012401}	Limited	\N	CYP2D6*1x2 is assigned increased function based on limited evidence. Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among 270 subjects based on urine metabolites (7616439). Additionally, debrisoquine metabolism correlated with the number of functional CYP2D6 genes (7616439, 9012401). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.015091962, "American": 0.025994705, "European": 0.008242789, "Oceanian": 0.118886255, "East Asian": 0.0033543645, "Near Eastern": 0.031482305, "Central/South Asian": 0.005793713, "Sub-Saharan African": 0.0057788896, "African American/Afro-Caribbean": 0.007974796}	f
777989	330	CYP2D6	*28	\N	Uncertain function	\N	n/a	777988	{24647041,30366777}	Inadequate	\N	CYP2D6*28 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*28 demonstrated enzyme activity ranging from nondetectable to similar activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": 0.0009319079, "European": 0.004213198, "Oceanian": null, "East Asian": 0.00021425438, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778727	286	G6PD	Guangzhou	III/Deficient	III/Deficient	\N	\N	778726	{22293322,16607506}	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
779023	286	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
779691	275	CYP2D6	*2x2	\N	Increased function	\N	2.0	777938	{7616439,7903454,8764380}	Limited	\N	CYP2D6*2x2 is assigned increased function based on limited evidence. CYP2D6*2x2 was described in a family demonstrating increased enzyme activity based on urine metabolites with a debrisoquine substrate (7903454). Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among all subjects (7616439, 8764380). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.011836204, "American": 0.0060559562, "European": 0.008509548, "Oceanian": 0.0, "East Asian": 0.0045895264, "Near Eastern": 0.03314872, "Central/South Asian": 0.0069125737, "Sub-Saharan African": 0.018582173, "African American/Afro-Caribbean": 0.01866399}	f
778963	286	G6PD	Abeno	II/Deficient	II/Deficient	\N	\N	778962	{22293322,22963789,1945893,11271380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779037	286	G6PD	Arakawa	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779036	{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
778717	286	G6PD	Namouru	II/Deficient	II/Deficient	\N	\N	778716	{22293322,7825590}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00020970956, "African American/Afro-Caribbean": 0.0}	f
1932994	112	CYP2C9	*80	\N	\N	\N	\N	1932993	\N	\N	\N	\N	\N	f
778915	286	G6PD	Loma Linda	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778914	{22293322,1999409}	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
778929	286	G6PD	Tomah	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778928	{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
3827875	107	MT-RNR1	m.669T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827874	{17637808,20353758}	Inadequate evidence	\N	MT-RNR1 669T>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. There are weak evidence proposing an association with aminoglycoside-induced hearing loss and this variant (17637808, 20353758). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"European": 0.0025295527, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3685727	125	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
3685733	125	RYR1	c.8638G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685732	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685761	125	RYR1	c.9797T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685760	{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
3827879	107	MT-RNR1	m.786G>A	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827878	{23969527}	Inadequate evidence	\N	MT-RNR1 786G>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 (23969527). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827913	107	MT-RNR1	m.1520T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827912	{7550368}	Inadequate evidence	\N	MT-RNR1 1520T>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": 0.00016057443, "East Asian": 0.008772, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827915	107	MT-RNR1	m.1537C>T	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827914	{17637808}	Inadequate evidence	\N	MT-RNR1 1537C>T 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 (17637808). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.00038541437, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827917	107	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
3685349	125	RYR1	c.488G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685348	{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": 0.00002413}	f
3685399	125	RYR1	c.1144C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685398	{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
3685467	125	RYR1	c.2996G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685466	{33767344}	\N	\N	None	{"Latino": 0.00006547, "American": null, "European": 0.0001176, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685483	125	RYR1	c.3527C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685482	{35849058}	\N	\N	BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0006219, "Sub-Saharan African": null}	f
3685491	125	RYR1	c.4178A>G	Benign	Normal function	\N	n/a	3685490	{35849058}	\N	\N	BA1	{"Latino": 0.001703, "American": null, "European": 0.0043866965, "East Asian": null, "Near Eastern": 0.0002882, "Central/South Asian": null, "Sub-Saharan African": 0.001086}	f
3685403	125	RYR1	c.1201C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685402	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779173	313	RYR1	c.1565A>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779172	{33767344}	\N	\N	PS3, PS4_Sup, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685423	125	RYR1	c.1475G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685422	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.00008823, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001208}	f
3685985	125	RYR1	c.14364+1G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685984	{35849058}	\N	\N	PS4_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685923	125	RYR1	c.14458G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685922	{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
3685933	125	RYR1	c.14509C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685932	{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
3685803	125	RYR1	c.11315G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685802	{33767344}	\N	\N	PS4_Mod, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685809	125	RYR1	c.11518G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685808	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": 0.0003846, "Near Eastern": null, "Central/South Asian": 0.0002072, "Sub-Saharan African": 0.000145}	f
3685813	125	RYR1	c.11723A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685812	{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
3685817	125	RYR1	c.11798A>G	Likely Benign	Normal function	\N	n/a	3685816	{33767344}	\N	\N	PP3_Mod, BS1	{"Latino": 0.002551, "American": null, "European": 0.001647, "East Asian": null, "Near Eastern": 0.001441, "Central/South Asian": 0.0008288, "Sub-Saharan African": 0.0000966}	f
779292	312	SLCO1B1	*8	\N	Uncertain function	\N	\N	779291	{11477075,12490595}	Inadequate	\N	SLCO1B1*8 is assigned uncertain function based on in vitro studies demonstrating unaltered 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": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002690	306	SLCO1B1	*39	\N	Uncertain function	\N	\N	1002689	{32082363,22232210}	Inadequate	\N	SLCO1B1*39 results in a premature stop codon and has been implicated in Rotor syndrome (32082363; 22232210). However, *39 is assigned uncertain function based on no in vitro evidence and limited clinical data describing function. 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
110054	123	HLA-A	*31:01	\N	\N	\N	\N	9000	\N	\N	\N	\N	{"Latino": 0.04523886, "American": 0.061688375, "European": 0.026442025, "Oceanian": 0.010846613, "East Asian": 0.03451316, "Near Eastern": 0.011130483, "Central/South Asian": 0.03301915, "Sub-Saharan African": 0.007987001, "African American/Afro-Caribbean": 0.009934212}	f
3685659	125	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
779219	313	RYR1	c.7372C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779218	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779300	312	SLCO1B1	*12	Decreased function	Uncertain function	\N	\N	779299	{11477075,12490595}	Inadequate	\N	SLCO1B1*12 is assigned uncertain function based on limited in vitro evidence and no clinical data. In in vitro studies, SLCO1B1*12 demonstrated reduced uptake of estrone sulfate and estradiol 17beta-glucuronide (11477075), as well as rifampin (12490595) compared to wildtype. 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
779302	312	SLCO1B1	*13	Decreased function	Uncertain function	\N	\N	779301	{11477075,12490595}	Inadequate	\N	SLCO1B1*13 is assigned uncertain function based on limited in vitro evidence and no clinical data. In in vitro studies, SLCO1B1*13 demonstrated reduced uptake of estrone sulfate and estradiol 17beta-glucuronide (11477075), as well as rifampin (12490595) compared to wildtype. 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
1002694	306	SLCO1B1	*41	\N	Uncertain function	\N	\N	1002693	{22232210}	Inadequate	\N	SLCO1B1*41 is assigned uncertain function due to no literature describing function of this allele with regard to drug metabolism. This variant introduces a splice donor site and has been implicated in Rotor syndrome (22232210). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.00010, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002700	306	SLCO1B1	*44	\N	Unknown function	\N	\N	1002699	{}	No evidence	\N	SLCO1B1*44 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
778241	184	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
3685707	125	RYR1	c.7879G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685706	{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
777471	334	CYP2B6	*26	Decreased function	Decreased function	\N	\N	777470	{17918089,30085944,30201214,32238417,34100292,18171905,24260284}	Limited	\N	CYP2B6*26 (c.499C>G, p.P167A; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*26 is assigned decreased function. CYP2B6*26 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). One study evaluating efavirenz plasma concentrations among patients with HIV found CYP2B6*26 was associated with elevated efavirenz concentrations compared to the *1 reference and has similar function to CYP2B6*6. This was demonstrated by similar efavirenz concentrations among CYP2B6 *6/*26 subjects CYP2B6 *6/*6 subjects (17918089). Although one in vitro study using a cDNA expression system found that CYP2B6*26 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing as it has previously been shown that in vitro expression systems may not adequately reflect CYP2B6*6 expression and function, and therefore also not be a suitable system to assess CYP2B6*26. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778239	184	CYP4F2	*1	\N	\N	\N	\N	778238	\N	\N	\N	\N	{"Latino": 0.5747943, "American": 0.5892313, "European": 0.56578875, "East Asian": 0.68352926, "Near Eastern": 0.43842018, "Central/South Asian": 0.42774868, "Sub-Saharan African": 0.6682824, "African American/Afro-Caribbean": 0.9237665}	t
3685911	125	RYR1	c.14270G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685910	{35849058}	\N	\N	PM1_Sup, BP4	{"Latino": null, "American": null, "European": 0.0002352, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00007241}	f
779233	313	RYR1	c.14387A>G	Variant of uncertain significance	Uncertain function	\N	n/a	779232	{}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685917	125	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
3685921	125	RYR1	c.14458G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685920	{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
779290	312	SLCO1B1	*7	\N	Uncertain function	\N	\N	779289	{11477075,12490595}	Inadequate	\N	SLCO1B1*7 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of estradiol 17beta-d-glucuronide and rifampin, but not of estrone sulfate (11477075, 12490595) and 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
779296	313	SLCO1B1	*10	\N	Uncertain function	\N	\N	779295	{11477075,12490595}	Inadequate	\N	SLCO1B1*10 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of estrone sulfate, but not of estradiol 17beta-d-glucuronide and rifampin (11477075, 12490595) and 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
1357092	295	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
777671	334	CYP2C9	*2	Decreased function	Decreased function	\N	0.5	777670	{29283396,20150829,1563752,12742136,10413320,27179628,25775139,19082874,30088221,15637526}	Definitive	\N	CYP2C9*2 is assigned decreased function based on definitive evidence in homozygous and heterozygous patients and in vitro experimental data. CYP2C9*2 has been studied for more than 20 years and its association with impaired function compared to wildtype is well-established (29283396, 20150829, 15637526). The phenotype for patients homozygous for the CYP2C9*2 variant was updated from poor metabolizer to intermediate metabolizer after reevaluation of prior and new evidence demonstrating CYP2C9*2 has more enzyme activity than CYP2C9*3, which results in in a similar phenotype for CYP2C9*1/*3 and CYP2C9 *2/*2 patients (12742136, 10413320, 27179628, 25775139, 19082874, 30088221), both of which can be distinguished from those homozygous for CYP2C9*3/*3. Therefore, consensus among experts was decreased function with an activity value of 0.5 based on definitive evidence.	{"Latino": 0.07625658, "American": 0.033402413, "European": 0.1273007, "Oceanian": 0.029310955, "East Asian": 0.0021256818, "Near Eastern": 0.12977302, "Central/South Asian": 0.11379695, "Sub-Saharan African": 0.013114594, "African American/Afro-Caribbean": 0.02243724}	f
1002692	306	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	306	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
779505	312	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
3318600	103	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
110057	117	HLA-B	*58:01	\N	\N	\N	\N	9003	\N	\N	\N	\N	{"Latino": 0.013537052, "American": 0.011914154, "European": 0.0076844515, "Oceanian": 0.014144436, "East Asian": 0.06041846, "Near Eastern": 0.018732347, "Central/South Asian": 0.041933447, "Sub-Saharan African": 0.04351446, "African American/Afro-Caribbean": 0.038205802}	f
777455	334	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
777531	334	CYP2C19	*38	\N	Normal function	\N	\N	777530	{2009263,32602114}	Definitve	\N	CYP2C19*38 is assigned normal function based on definitive evidence. CYP2C19*38 was originally catalogued as CYP2C19*1.001 (i.e. CYP2C19*1A) (2009263). Due to the standardized nomenclature system this allele received its own star designation and is now catalogued as CYP2C19*38 (32602114). Therefore, because CYP2C19*38 does not contain any single nucleotide polymorphisms and the new star designation was a result of nomenclature standardization, consensus among experts was normal 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
777263	206	CACNA1S	Reference	\N	Normal function	\N	\N	777262	{}	\N	\N	\N	\N	f
5409120	18	CYP2D6	*176	\N	\N	\N	\N	5409119	\N	\N	\N	\N	\N	f
777265	334	CACNA1S	c.520C>T	Uncertain function	Malignant Hyperthermia associated	\N	\N	777264	{19825159,28259615,22547813}	\N	\N	19825159: positive in vitro contracture test (biopsied muscle strips) (IVCT); 28259615: positive IVCT; 22547813: R174W mutation does not alter the voltage dependence of EC coupling, indicating that this mutation does not shift the equilibrium of RyR1 toward the activated state. R174W mutation alters the resting conformation of CACNA1S such that it no longer suppresses resting calcium leak via RYR1 and R174W mutation also serves to amplify this resting leak. R174W mutation disrupts the ability of CACNA1S to repress resting calcium leak from SR via RYR1 leading t elevated resting myoplasmic calcium and increased sensitivity to MH triggers	{"Latino": 0.00005783, "European": 0.000014776972, "East Asian": 0.0001087, "Near Eastern": 0.0, "Central/South Asian": 0.00003267}	f
777737	334	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
777983	330	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
777310	204	CFTR	2789+5G->A	\N	ivacaftor responsive	\N	\N	777309	{}	\N	ACMG screening panel	\N	\N	f
778055	330	CYP2D6	*61	\N	Uncertain function	\N	n/a	778054	{24647041,30366777}	Inadequate	\N	CYP2D6*61 is assigned uncertain function due to inadequate evidence. In vitro studies have found CYP2D6*61 demonstrated decreased to no detectable enzyme activity compared to wildtype with various substrates (24647041, 30366777) but consensus among experts was uncertain function.	{"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
5998159	8	CYP2D6	*178	\N	\N	\N	\N	5998158	\N	\N	\N	\N	\N	f
5998161	8	CYP2D6	*179	\N	\N	\N	\N	5998160	\N	\N	\N	\N	\N	f
5998163	8	CYP2D6	*180	\N	\N	\N	\N	5998162	\N	\N	\N	\N	\N	f
5998165	8	CYP2D6	*181	\N	\N	\N	\N	5998164	\N	\N	\N	\N	\N	f
5998167	8	CYP2D6	*182	\N	\N	\N	\N	5998166	\N	\N	\N	\N	\N	f
5998169	8	CYP2D6	*183	\N	\N	\N	\N	5998168	\N	\N	\N	\N	\N	f
5998171	8	CYP2D6	*184	\N	\N	\N	\N	5998170	\N	\N	\N	\N	\N	f
5998173	8	CYP2D6	*185	\N	\N	\N	\N	5998172	\N	\N	\N	\N	\N	f
1103380	236	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
3318602	103	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
778763	286	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	286	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
778979	286	G6PD	Georgia	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778978	{22293322,7803800}	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
778711	286	G6PD	Hechi	II/Deficient	II/Deficient	\N	\N	778710	{22293322,17018380}	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	286	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
778823	286	G6PD	Mexico City	III/Deficient	III/Deficient	\N	\N	778822	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00018234865, "European": 0.000040952138, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778803	286	G6PD	Pedoplis-Ckaro	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778802	{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
778955	286	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
778977	286	G6PD	Tokyo, Fukushima	I-II/Deficient with CNSHA-Deficient	I/Deficient with CNSHA	\N	\N	778976	{22293322,28028996,7440223,9192788,1733837}	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
3827873	107	MT-RNR1	m.663A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827872	{8414970,7689389,7550368}	Inadequate evidence	\N	MT-RNR1 663A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. This variant has been identified in individuals with aminoglycoside-induced hearing loss but also in controls after aminoglycoside exposure (8414970, 7689389, 7550368). Therefore, consensus among experts is that there is uncertain risk of aminoglycoside-induced hearing loss associated with this variant.	{"European": 0.0014543316, "East Asian": 0.04993, "Near Eastern": 0.0, "Central/South Asian": 0.003349, "Sub-Saharan African": null}	f
3827883	107	MT-RNR1	m.807A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827882	{18830133}	Inadequate evidence	\N	MT-RNR1 807A>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": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827885	107	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
3827919	107	MT-RNR1	m.1556C>T	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827918	{15141753}	Inadequate evidence	\N	MT-RNR1 1556C>T is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Case report of of a patient with streptomycin-induced tinnitus carrying this variant (15141753) . Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.000031612555, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3685407	125	RYR1	c.1202G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685406	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685439	125	RYR1	c.1615T>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685438	{35849058}	\N	\N	PS4_Mod, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685511	125	RYR1	c.5183C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685510	{33767344}	\N	\N	PS4, PP1_St, BP4	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685599	125	RYR1	c.7035C>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685598	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685657	125	RYR1	c.7310C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685656	{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
3685769	125	RYR1	c.10042C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685768	{33767344}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0001617, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002412}	f
779294	313	SLCO1B1	*9	\N	No function	\N	\N	779293	{11477075,12490595,16697742,16513443}	Limited	\N	SLCO1B1*9 is assigned no function based on in vitro studies demonstrating reduced uptake of estrone sulfate, estradiol 17beta-d-glucuronide, rifampin, rosuvastatin and atrasentan (11477075, 12490595, 16697742, 16513443) but normal protein expression (33658230). One clinical study of 1 heterozygous carrier of *31 (has same G488A variant) showed markedly decreased high-dose methotrexate clearance compared to wildtype, slower than a *5/*5 patient (22147369). 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
779298	312	SLCO1B1	*11	\N	Uncertain function	\N	\N	779297	{11477075,12490595}	Inadequate	\N	SLCO1B1*11 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of rifampin (12490595), but not of estrone sulfate or estradiol 17beta-d-glucuronide (11477075) and 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
777312	204	CFTR	3272-26A->G	\N	ivacaftor responsive	\N	\N	777311	{}	\N	\N	\N	\N	f
777314	204	CFTR	3849+10kbC->T	\N	ivacaftor responsive	\N	\N	777313	{}	\N	ACMG screening panel	\N	\N	f
777318	204	CFTR	A1067T	\N	ivacaftor responsive	\N	\N	777317	{}	\N	\N	\N	\N	f
777320	204	CFTR	A455E	\N	ivacaftor responsive	\N	\N	777319	{}	\N	ACMG screening panel	\N	\N	f
777326	204	CFTR	D1152H	\N	ivacaftor responsive	\N	\N	777325	{}	\N	\N	\N	\N	f
777328	204	CFTR	D1270N	\N	ivacaftor responsive	\N	\N	777327	{}	\N	\N	\N	\N	f
777330	204	CFTR	D579G	\N	ivacaftor responsive	\N	\N	777329	{}	\N	\N	\N	\N	f
777336	204	CFTR	E831X	\N	ivacaftor responsive	\N	\N	777335	{}	\N	\N	\N	\N	f
777338	204	CFTR	F1052V	\N	ivacaftor responsive	\N	\N	777337	{}	\N	\N	\N	\N	f
777340	204	CFTR	F1074L	\N	ivacaftor responsive	\N	\N	777339	{}	\N	\N	\N	\N	f
777342	204	CFTR	G1069R	\N	ivacaftor responsive	\N	\N	777341	{}	\N	\N	\N	\N	f
777344	204	CFTR	G1244E	\N	ivacaftor responsive	\N	\N	777343	{}	\N	\N	\N	\N	f
777346	204	CFTR	G1349D	\N	ivacaftor responsive	\N	\N	777345	{}	\N	\N	\N	\N	f
777350	204	CFTR	G551D	\N	ivacaftor responsive	\N	\N	777349	{}	\N	ACMG screening panel	\N	\N	f
777352	204	CFTR	G551S	\N	ivacaftor responsive	\N	\N	777351	{}	\N	\N	\N	\N	f
777354	204	CFTR	K1060T	\N	ivacaftor responsive	\N	\N	777353	{}	\N	\N	\N	\N	f
777360	204	CFTR	R1070Q	\N	ivacaftor responsive	\N	\N	777359	{}	\N	\N	\N	\N	f
777362	204	CFTR	R1070W	\N	ivacaftor responsive	\N	\N	777361	{}	\N	\N	\N	\N	f
777380	204	CFTR	S549R(A>C)	\N	ivacaftor responsive	\N	\N	777379	{}	\N	\N	\N	\N	f
777437	334	CYP2B6	*8	No function	No function	\N	\N	777436	{14551287,15190123,20517174,21659470,21746968,30201214}	Limited	\N	CYP2B6*8 (c.415A>G, p.K139E) - No function: CYP2B6*8 is assigned no function. Multiple in vitro studies using human liver microsomes (14551287) and cDNA expression systems (15190123, 20517174, 21659470, 21746968, 30201214) found that CYP2B6*8 had no enzyme activity compared to the *1 reference with various substrates. 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": 0.0}	f
777469	333	CYP2B6	*25	\N	Uncertain function	\N	\N	777468	{20517174,21746968,30201214}	Inadequate	\N	CYP2B6*25 (c.1454A>T, p.Q485L) – Uncertain function: CYP2B6*25 is assigned uncertain function. In vitro studies using cDNA expression systems showed no significant changes in enzyme activity and/or protein expression compared to the *1 reference (20517174, 21746968, 30201214). However, there were no in vivo data available or data in human liver microsomes. Therefore, consensus among experts was uncertain function based on inadequate 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
2899163	123	CYP2B6	*49	\N	Uncertain function	\N	\N	2899162	{38596098}	Inadequate	\N	CYP2B6*49 (c.1301G>A, p.R434Q) – Uncertain function: CYP2B6*49 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.R434Q using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899145	123	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
2899155	123	CYP2B6	*45	\N	Uncertain function	\N	\N	2899154	{38596098}	Inadequate	\N	CYP2B6*45 (c.547G>A, p.V183I) – Uncertain function: CYP2B6*45 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.V183I using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5997309	8	CYP2B6	*50	\N	\N	\N	\N	5997308	\N	\N	\N	\N	\N	f
779097	111	NUDT15	*17	\N	\N	\N	\N	779096	\N	\N	\N	\N	\N	f
777433	334	CYP2B6	*6	Decreased function	Decreased function	\N	\N	777432	{12642465,14551287,15194512,16338275,17178267,17235330,17329992,17559344,18171905,21659470,22232427,23080225,23344581,23550066,24260284,25456329,25565674,26389554,26655325,27799204,28723731,29756345,30201214,32238417,32302325,34752647,35538637}	Strong	\N	CYP2B6*6 (c.516G>T, p.Q172H/splice defect and c.785A>G, p.K262R) - Decreased function: CYP2B6*6 is assigned decreased function based on in vivo (homozygous and heterozygous patients) and in vitro studies. Significantly lower protein expression and activity was found in human liver microsomes, and increased plasma exposure of CYP2B6 substrates was found in healthy volunteers and patients. In a panel of 87 human liver microsome samples, the CYP2B6*6 allele was associated with significantly decreased protein expression and activity, measured by bupropion 4-hydroxylation and efavirenz 8-hydroxylation (17559344). The mechanism was predominantly aberrant splicing caused by c.516G>T (but not c.785A>G) leading to reduced content of functional mRNA, protein, and activity (14551287, 18171905, 24260284). Multiple in vitro studies using human liver microsomes (17559344, 22232427, (23550066) and cDNA expression systems (21659470, 32238417, 35538637) found that CYP2B6*6 has decreased enzyme activity and metabolism of efavirenz, bupropion, methadone and ketamine. Although two other in vitro studies using cDNA expression systems found increased activity (12642465, 30201214), the experts did not find these results convincing. This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that CYP2B6*6 carriers had higher efavirenz concentrations compared to the *1 reference (e.g., 15194512, 17235330, 27799204). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months similarly found that CYP2B6*6 was associated with greater long term efavirenz exposure (26655325). Other studies using c.516G>T as a tagSNP for CYP2B6*6 (15622315) showed that G/T and T/T genotypes (compared to G/G) were associated with significantly higher efavirenz plasma exposure during HIV therapy. Several studies found that plasma exposure of the active bupropion metabolite hydroxybupropion was less in CYP2B6*6 carriers than in the *1 reference, although bupropion concentration and clearance were unchanged (23344581, 25565674, 29756345, 34752647). Multiple clinical studies of methadone, evaluating metabolism and/or clearance, have shown that methadone plasma exposure (S- more than R-) is greater and/or metabolism and clearance is less in CYP2B6*6 carriers compared to the *1 reference (16338275, 17178267, 17329992, 25456329, 26389554, 28723731, 32302325 ). Therefore, consensus among experts was decreased function based on strong evidence.	{"Latino": 0.21163164, "European": 0.23297834, "Oceanian": 0.62, "East Asian": 0.17446446, "Near Eastern": 0.231, "Central/South Asian": 0.185, "Sub-Saharan African": 0.37487158, "African American/Afro-Caribbean": 0.31696695}	f
777459	334	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
777487	334	CYP2B6	*34	Decreased function	Decreased function	\N	\N	777486	{23418033,30201214,18171905,24260284}	Limited	\N	CYP2B6*34 (c.-82T>C, c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1459C>A, p.R487S) – Decreased function: CYP2B6*34 is assigned decreased function. CYP2B6*34 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). Although one in vitro study using a cDNA expression system found that CYP2B6*34 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing as it has previously been shown that in vitro expression systems may not adequately reflect CYP2B6*6 expression and function, and therefore also not be a suitable system to assess CYP2B6*34. 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
777493	334	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
779103	111	NUDT15	*20	\N	\N	\N	\N	779102	\N	\N	\N	\N	\N	f
777559	334	CYP2C19	*14	\N	Uncertain function	\N	\N	777558	{21325430,25001882,21692664}	Inadequate	\N	CYP2C19*14 is assigned uncertain function due to inadequate evidence. CYP2C19*14 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, and other substrates (21325430, 21692664). In a separate in vitro study CYP2C19*14 demonstrated decreased activity compared to wildtype with mephenytoin and clopidogrel substrates (25001882). Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0001145213, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777561	334	CYP2C19	*15	\N	Normal function	\N	\N	777560	{21325430,25001882}	Limited	\N	CYP2C19*15 is assigned normal function based on limited evidence. Two in vitro studies using different cell systems found CYP2C19*15 demonstrated similar enzyme activity compared to wildtype with mephenytoin and omeprazole substrates (21325430, 25001882). 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": 0.004, "American": null, "European": 0.002, "Oceanian": null, "East Asian": 0.0013589837, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.052882355, "African American/Afro-Caribbean": 0.014}	f
777573	334	CYP2C19	*23	\N	Uncertain function	\N	\N	777572	{25001882,27578295,30464555,31713493}	Inadequate	\N	CYP2C19*23 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*23 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (25001882, 27578295, 30464555, 31713493). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00056672905, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5881977	10	NUDT15	*21	\N	\N	\N	\N	5881976	\N	\N	\N	\N	\N	f
777591	334	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
779065	314	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
777557	334	CYP2C19	*13	\N	Normal function	\N	\N	777556	{12464799,21325430,25001882,21692664}	Limited	\N	CYP2C19*13 is assigned normal function based on limited evidence. Three in vitro studies using different cell systems found CYP2C19*13 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, clopidogrel and other substrates (12464799, 21325430, 25001882, 21692664). 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": 0.004, "American": null, "European": 0.0022364424, "Oceanian": null, "East Asian": 0.00011504832, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.012}	f
777697	334	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
777749	334	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
777787	334	CYP2C9	*60	Decreased function	Uncertain function	\N	n/a	777786	{25142737,26255664,25884291}	Inadequate evidence	\N	CYP2C9*60 is assigned uncertain function due to inadequate evidence. CYP2C9*60 was first described in a patient requiring a low daily warfarin dose of 1.5mg (26255664). In vitro studies found CYP2C9*60 demonstrated enzyme activity ranging from decreased to similar activity compared to wildtype with various substrates (25142737, 26255664, 25884291). 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
777693	334	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
777713	334	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
777675	334	CYP2C9	*4	Decreased function	Decreased function	\N	0.5	777674	{23752738,21228733}	Limited	\N	CYP2C9*4 is assigned decreased function based on limited evidence in heterozygous patients and in vitro studies. One patient on a stable dose of warfarin with CYP2C9*1/*4 genotype required a lower weekly warfarin dose compared to CYP2C9*1/*1 patients (21228733). In an in vitro study CYP2C9*4 demonstrated 16% enzyme activity with a warfarin substrate and 22% enzyme activity with a tolbutamide substrate compared to wildtype. The CYP2C9*4 defining SNP occurs in the substrate recognition site which likely contributes to the loss of enzyme activity (23752738). 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": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0011754684, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777723	334	CYP2C9	*28	Decreased function	Decreased function	\N	0.5	777722	{23752738,19541829,16788382}	Limited	\N	CYP2C9*28 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*28 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": 0.002, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2677040	101	CYP2D6	*164	\N	\N	\N	\N	2677039	\N	\N	\N	\N	\N	f
777941	330	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	274	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
777967	330	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
777969	330	CYP2D6	*18	\N	No function	\N	0.0	777968	{8946471,10471060,18784265,24647041,30366777}	Moderate	\N	CYP2D6*18 is assigned no function based on moderate evidence. CYP2D6*18 is defined by a 9 base insertion yielding a nonfunctional enzyme and has been described in subjects demonstrating markedly decreased metabolism of sparteine and debrisoquine (8946471, 10471060). Multiple in vitro studies found CYP2D6*18 had decreased enzyme activity compared to wildtype with various substrates (8946471, 18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0013486103, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777971	329	CYP2D6	*19	\N	No function	\N	0.0	777970	{9241659}	Limited	\N	CYP2D6*19 is assigned no function based on limited evidence. CYP2D6*19 is defined by a four base deletion resulting in a frameshift and yielding a nonfunctional enzyme (9241659). 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": 0.0003139269, "Oceanian": 0.002224, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777981	330	CYP2D6	*24	\N	Uncertain function	\N	n/a	777980	{18838503,24647041,30366777}	Inadequate	\N	CYP2D6*24 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*24 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (18838503, 24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
2677052	101	CYP2D6	*170	\N	\N	\N	\N	2677051	\N	\N	\N	\N	\N	f
2677042	101	CYP2D6	*165	\N	\N	\N	\N	2677041	\N	\N	\N	\N	\N	f
779734	275	CYP2D6	*36x2	\N	No function	\N	0.0	778004	{12439227}	Limited	\N	CYP2D6*36x2 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*36x2 has been described in a subject with CYP2D6*21/*36x2 genotype demonstrating poor metabolism with a debrisoquine substrate (12439227). 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": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.004052432, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.000092301394}	f
2677044	101	CYP2D6	*166	\N	\N	\N	\N	2677043	\N	\N	\N	\N	\N	f
777993	330	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
779732	275	CYP2D6	*35x2	\N	Increased function	\N	2.0	778002	{9511177}	Limited	\N	CYP2D6*35x2 is assigned increased function based on limited evidence in heterozygous subjects. CYP2D6*35x2 was described in a subject with CYP2D6*1/*35x2 genotype demonstrating increased enzyme activity with the greatest sparteine metabolism among 195 subjects based on urine metabolites. Additionally, a subject with CYP2D6 *5/*35x2 genotype demonstrated similar sparteine metabolism compared to wildtype subjects indicating increased enzyme activity (9511177). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.00093648373, "American": 0.00020282187, "European": 0.00057484733, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.00009041316}	f
778017	330	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
779744	274	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
2677046	101	CYP2D6	*167	\N	\N	\N	\N	2677045	\N	\N	\N	\N	\N	f
778049	329	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	329	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
2677048	101	CYP2D6	*168	\N	\N	\N	\N	2677047	\N	\N	\N	\N	\N	f
2677050	101	CYP2D6	*169	\N	\N	\N	\N	2677049	\N	\N	\N	\N	\N	f
778099	330	CYP2D6	*90	\N	Uncertain function	\N	n/a	778098	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*90 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*90 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778103	330	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
3318540	75	CYP2D6	*172	\N	\N	\N	\N	3318539	\N	\N	\N	\N	\N	f
5175553	22	CYP2D6	*174	\N	\N	\N	\N	5175552	\N	\N	\N	\N	\N	f
5175555	22	CYP2D6	*175	\N	\N	\N	\N	5175554	\N	\N	\N	\N	\N	f
5763833	12	CYP2D6	*177	\N	\N	\N	\N	5763832	\N	\N	\N	\N	\N	f
778125	329	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
778165	329	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	330	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
778205	236	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
777963	330	CYP2D6	*14	\N	Decreased function	\N	0.5	777962	{18784265,19364831,24647041,30366777}	Limited	\N	CYP2D6*14 is assigned decreased function based on limited evidence. Three subjects with CYP2D6*1/*14, CYP2D6 *10/*14, and CYP2D6*14/*41 genotype, respectively demonstrated decreased dextromethorphan metabolism compared to wildtype based on urine metabolites (19364831). Multiple in vitro studies found CYP2D6*14 had modestly decreased enzyme activity compared to wildtype with various substrates (18784265, 19364831, 24647041, 30366777). 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": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.004713944, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777997	330	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
777961	330	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
778057	330	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
777959	330	CYP2D6	*12	\N	No function	\N	0.0	777958	{8655150,9241659,24647041,30366777}	Limited	\N	CYP2D6*12 is assigned no function based on limited evidence. CYP2D6*12 is defined by a nonsense mutation yielding a nonfunctional enzyme and was identified in a subject demonstrating markedly decreased sparteine metabolism (8655150, 9241659). Two in vitro studies found CYP2D6*12 had nondetectable enzyme activity with various substrates (24647041, 30366777). 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": 0.0063913045, "European": 0.00013778963, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002101211, "African American/Afro-Caribbean": 0.00066490064}	f
5294109	40	CYP2D6	*27x2	\N	Increased function	\N	2.0	777986	{18784265,18838503,24647041,30366777}	Limited	\N	CYP2D6*27x2 was deposited into PharmVar. CYP2D6*27 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*27 demonstrated similar activity compared to wildtype with various substrates (18784265, 18838503). Although some in vitro studies found CYP2D6*27 demonstrated modestly decreased activity it was not convincing the magnitude of decreased activity was clinically significant (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles. Based on other normal function alleles such as *1, *2, *45, a duplication of a normal function allele is assigned an activity value of 2 and increased 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
778043	330	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
778163	329	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	286	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	286	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	286	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	286	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
778755	286	G6PD	Mt Sinai	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778754	{22293322,32387609,9452072}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778745	286	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	286	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	286	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
778873	286	G6PD	West Virginia	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778872	{22293322,7803800}	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
778851	286	G6PD	Wexham	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778850	{22293322,7577654}	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	286	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
779021	286	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	287	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
3827889	107	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	107	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
3685329	125	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	125	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
3685429	125	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	125	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
3685541	125	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	125	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	125	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	313	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	125	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	125	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	125	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	125	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	101	CYP2D6	*151	\N	\N	\N	\N	2677013	\N	\N	\N	\N	\N	f
777685	334	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	125	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	125	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	125	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	313	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	125	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	132	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	132	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	132	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	132	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	103	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	103	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	103	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	103	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	103	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	103	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	103	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	65	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	313	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	125	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	125	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	125	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	312	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	312	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	312	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
1002688	306	SLCO1B1	*38	\N	Uncertain function	\N	\N	1002687	{11477075}	Inadequate	\N	SLCO1B1*38 is assigned uncertain function based on limited in vitro evidence and limited clinical data. One study showed similar estrone sulfate transport compared to the *1 allele, but reduced estradiol 17β-d-glucuronide (11477075). 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
1002704	306	SLCO1B1	*46	\N	No function	\N	\N	1002703	{22232210,11477075,32961594,21245207}	Limited	\N	SLCO1B1*46 results in a premature stop codon that has been implicated in Rotor syndrome (22232210) and the rs4149056C>T variant present in *5. Based on evidence supporting the function of rs4149056C>T (11477075, 32961594, 21245207), SLCO1B1*46 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
1002706	306	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	295	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
779095	111	NUDT15	*16	\N	\N	\N	\N	779094	\N	\N	\N	\N	\N	f
777707	334	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	334	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
779042	55	IFNL3	rs12979860 reference (C)	\N	\N	\N	\N	779041	\N	\N	\N	\N	\N	t
779044	55	IFNL3	rs12979860 variant (T)	\N	\N	\N	\N	779043	\N	\N	\N	\N	\N	f
777717	334	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
779083	111	NUDT15	*10	\N	\N	\N	\N	779082	\N	\N	\N	\N	\N	f
777727	334	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
778219	327	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
777739	334	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
778223	327	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	326	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	101	CYP2D6	*150	\N	\N	\N	\N	2677011	\N	\N	\N	\N	\N	f
777751	334	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
777753	334	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
777755	334	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
778231	327	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	326	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
777761	334	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
777767	334	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	334	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	170	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	170	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
777765	334	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
778235	326	CYP3A5	*9	\N	Unknown function	\N	\N	778234	{}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1508725	316	ABCG2	rs2231142 reference (G)	\N	Normal function	\N	\N	1508724	{}	\N	\N	\N	{"Latino": 0.7756, "American": 0.8, "European": 0.8964, "Oceanian": 0.7952753, "East Asian": 0.6929, "Near Eastern": 0.9347, "Central/South Asian": 0.9068, "Sub-Saharan African": 0.994154, "African American/Afro-Caribbean": 0.9651338}	f
779067	314	NUDT15	*2	\N	No function	\N	\N	779066	{26878724}	\N	undetectable enzymatic activity in vitro	\N	{"Latino": 0.0365, "European": 0.0, "East Asian": 0.035, "Central/South Asian": 0.0}	f
777267	334	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
777809	316	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
1406316	316	CYP2C9	*72	Unknown function	Unknown function	\N	n/a	1406315	{}	No evidence	\N	CYP2C9*72 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777308	204	CFTR	ivacaftor non-responsive CFTR sequence	\N	ivacaftor non-responsive	\N	\N	777307	{}	\N	\N	\N	\N	f
777316	204	CFTR	711+3A->G	\N	ivacaftor responsive	\N	\N	777315	{}	\N	ACMG screening panel	\N	\N	f
777322	204	CFTR	D110E	\N	ivacaftor responsive	\N	\N	777321	{}	\N	\N	\N	\N	f
777324	204	CFTR	D110H	\N	ivacaftor responsive	\N	\N	777323	{}	\N	\N	\N	\N	f
777332	204	CFTR	E193K	\N	ivacaftor responsive	\N	\N	777331	{}	\N	\N	\N	\N	f
777334	204	CFTR	E56K	\N	ivacaftor responsive	\N	\N	777333	{}	\N	\N	\N	\N	f
777348	204	CFTR	G178R	\N	ivacaftor responsive	\N	\N	777347	{}	\N	\N	\N	\N	f
777356	204	CFTR	L206W	\N	ivacaftor responsive	\N	\N	777355	{}	\N	\N	\N	\N	f
777358	204	CFTR	P67L	\N	ivacaftor responsive	\N	\N	777357	{}	\N	\N	\N	\N	f
777372	204	CFTR	R74W	\N	ivacaftor responsive	\N	\N	777371	{}	\N	\N	\N	\N	f
777807	316	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
777423	334	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	334	CYP2B6	*10	\N	Uncertain function	\N	\N	777440	{21746968,30201214}	Inadequate	\N	CYP2B6*10 (c.62A>T, p.Q21L and c.64C>T, p.R22C) - Uncertain function: CYP2B6*10 is assigned uncertain function. In vitro studies using cDNA expression systems (21746968, 30201214) demonstrated decreased enzyme activity compared to the *1 reference. However, consensus among experts was uncertain function based on inadequate evidence as it could not be determined if diplotypes containing this allele would be phenotypically distinct from diplotypes comprising two normal function alleles.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779479	111	TPMT	*42	\N	\N	\N	\N	779478	\N	\N	\N	\N	\N	f
777461	334	CYP2B6	*21	No or decreased function	Uncertain function	\N	\N	777460	{16272958,20517174,21746968,30201214}	Inadequate	\N	CYP2B6*21 (c.1282C>A, p.P428T) – Uncertain function: CYP2B6*21 is assigned uncertain function. In vitro studies using cDNA expression systems found no or severely decreased enzyme activity for CYP2B6*21 (20517174, 21746968, 16272958, 30201214). However, there was no in vivo data available or data in human liver microsomes. Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0127297295, "African American/Afro-Caribbean": 0.0}	f
779451	312	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
777425	334	CYP2B6	*2	Normal function	Normal function	\N	\N	777424	{12642465,17559344,21896912,22471906,23254426,23399569,26655325,30201214}	Strong	\N	CYP2B6*2 (c.64C>T, p.R22C) - Normal function: CYP2B6*2 is assigned normal function based on in vivo (heterozygous patients) and in vitro studies. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that CYP2B6*2 heterozygotes had similar efavirenz plasma concentrations compared to the *1 reference (21896912, 22471906, 23254426, 23399569). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months, similarly found that CYP2B6*2 did not impact long term efavirenz exposure (26655325). Additionally, one in vitro study using human liver microsomes (17559344) and two in vitro studies using cDNA expression systems (12642465, 30201214) found that CYP2B6*2 had similar enzyme activity compared to the *1 reference. Therefore, consensus among experts was normal function based on strong evidence.	{"Latino": 0.044, "European": 0.04917699, "Oceanian": 0.0, "East Asian": 0.045823272, "Near Eastern": 0.039, "Central/South Asian": 0.041, "Sub-Saharan African": 0.031, "African American/Afro-Caribbean": 0.031030929}	f
777427	334	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
779453	312	TPMT	*29	\N	No function	\N	\N	779452	{22447118}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0002899, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777445	334	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	333	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
779069	314	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	314	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	334	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	334	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
777535	334	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
777537	334	CYP2C19	*3	\N	No function	\N	\N	777536	{7969038,9103550,22027650}	Definitve	\N	CYP2C19*3 is assigned no function based on definitive evidence. CYP2C19*3 has been studied for more than 20 years and its association with impaired function is well-established (7969038, 9103550, 22027650). CYP2C19*3 is defined by an early stop codon resulting in a truncated protein lacking a heme binding region and a majority of the substrate binding region, making it a nonfunctional protein. CYP2C19*3 was first identified in a homozygous subject demonstrating decreased mephenytoin metabolism and was subsequently identified in six additional subjects demonstrating decreased mephenytoin metabolism (7969038).	{"Latino": 0.00082841824, "American": 0.00035169988, "European": 0.0016180738, "Oceanian": 0.14638089, "East Asian": 0.07247335, "Near Eastern": 0.016479162, "Central/South Asian": 0.015685236, "Sub-Saharan African": 0.0026677323, "African American/Afro-Caribbean": 0.0027567567}	f
777583	334	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	334	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	312	TPMT	*30	\N	Unknown function	\N	\N	779454	{23407052,16946561}	\N	\N	\N	{"Latino": 0.0001489, "European": 0.000014929322, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5175551	22	CYP2D6	*173	\N	\N	\N	\N	5175550	\N	\N	\N	\N	\N	f
777601	317	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
1932986	112	CYP2C9	*76	\N	\N	\N	\N	1932985	\N	\N	\N	\N	\N	f
1932988	112	CYP2C9	*77	\N	\N	\N	\N	1932987	\N	\N	\N	\N	\N	f
1932990	112	CYP2C9	*78	\N	\N	\N	\N	1932989	\N	\N	\N	\N	\N	f
1932992	112	CYP2C9	*79	\N	\N	\N	\N	1932991	\N	\N	\N	\N	\N	f
1932998	112	CYP2C9	*82	\N	\N	\N	\N	1932997	\N	\N	\N	\N	\N	f
1932996	112	CYP2C9	*81	\N	\N	\N	\N	1932995	\N	\N	\N	\N	\N	f
777669	333	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
779457	312	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
777681	334	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	334	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
779459	312	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
777781	334	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
1933000	112	CYP2C9	*83	\N	\N	\N	\N	1932999	\N	\N	\N	\N	\N	f
1933002	112	CYP2C9	*84	\N	\N	\N	\N	1933001	\N	\N	\N	\N	\N	f
1933004	112	CYP2C9	*85	\N	\N	\N	\N	1933003	\N	\N	\N	\N	\N	f
777673	334	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
779461	312	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	329	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	333	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	125	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	312	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	312	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	125	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	312	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	125	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	236	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	236	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	234	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	234	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	327	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
778328	199	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
778330	327	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	327	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	321	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	321	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	321	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	321	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	321	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
778456	315	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	315	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	315	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	315	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	315	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	315	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	315	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	315	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	315	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	315	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	315	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	315	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	315	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	286	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	286	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	286	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	286	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	286	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	199	MT-RNR1	Reference	\N	Normal risk of aminoglycoside-induced hearing loss	\N	\N	828095	{27654872}	\N	\N	27654872: N/A	\N	f
3827893	107	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	107	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	111	NUDT15	*18	\N	\N	\N	\N	779098	\N	\N	\N	\N	\N	f
779101	111	NUDT15	*19	\N	\N	\N	\N	779100	\N	\N	\N	\N	\N	f
3827895	107	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	107	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	107	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	314	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	314	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	314	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	314	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	314	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	312	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	125	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	125	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	125	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	125	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	313	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	125	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	125	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	199	RYR1	Reference	Benign	Normal function	\N	n/a	779148	{}	\N	\N	\N	\N	f
3685629	125	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	125	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	125	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	313	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	125	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	125	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	313	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	125	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	125	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	125	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	313	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	313	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	125	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	125	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	125	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	313	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	125	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	125	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	125	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	125	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	125	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	125	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	313	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	125	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	125	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	125	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	125	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	312	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	313	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	312	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	111	TPMT	*43	\N	\N	\N	\N	779480	\N	\N	\N	\N	\N	f
779483	111	TPMT	*44	\N	\N	\N	\N	779482	\N	\N	\N	\N	\N	f
779471	312	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	312	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	312	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	312	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	313	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	313	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	313	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	312	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	312	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	312	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	312	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	314	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
777448	161	CYP2B6	*14	PV00752	f	f
777450	161	CYP2B6	*15	PV00753	f	f
6359183	1	CYP2D6	*68+*4	\N	f	f
6355213	1	CFTR	A120T	\N	f	f
777766	161	CYP2C9	*50	PV00586	f	f
777776	161	CYP2C9	*55	PV00591	f	f
777678	161	CYP2C9	*6	PV00542	f	f
6355215	1	CFTR	A234D	\N	f	f
6355217	1	CFTR	A349V	\N	f	f
777452	161	CYP2B6	*17	PV00755	f	f
777454	161	CYP2B6	*18	PV00756	f	f
777456	161	CYP2B6	*19	PV00757	f	f
777460	161	CYP2B6	*21	PV00759	f	f
777462	161	CYP2B6	*22	PV00760	f	f
6355227	1	CFTR	D192G	\N	f	f
777464	161	CYP2B6	*23	PV00761	f	f
777466	161	CYP2B6	*24	PV00762	f	f
777468	161	CYP2B6	*25	PV00763	f	f
777470	161	CYP2B6	*26	PV00764	f	f
777474	161	CYP2B6	*28	PV00766	f	f
777476	156	CYP2B6	*29	PV00767	f	t
777478	156	CYP2B6	*30	PV00770	f	t
777480	161	CYP2B6	*31	PV00771	f	f
777482	161	CYP2B6	*32	PV00772	f	f
777484	161	CYP2B6	*33	PV00848	f	f
777486	161	CYP2B6	*34	PV00774	f	f
777490	161	CYP2B6	*36	PV00776	f	f
777492	161	CYP2B6	*37	PV00777	f	f
777494	161	CYP2B6	*38	PV00778	f	f
2899154	75	CYP2B6	*45	PV02278	f	f
2899156	75	CYP2B6	*46	PV02280	f	f
5997308	8	CYP2B6	*50	PV02841	f	f
2899158	75	CYP2B6	*47	PV02282	f	f
2899162	75	CYP2B6	*49	PV02286	f	f
777430	161	CYP2B6	*5	PV00743	f	f
777432	161	CYP2B6	*6	PV00744	f	f
777434	161	CYP2B6	*7	PV00745	f	f
777580	161	CYP2C19	*28	PV00622	f	f
777794	161	CYP2C9	*64	PV01419	f	f
777680	161	CYP2C9	*7	PV00543	f	f
1406321	131	CYP2C9	*75	PV01742	f	f
1933003	111	CYP2C9	*85	PV01798	f	f
777958	161	CYP2D6	*12	PV00437	f	f
777436	161	CYP2B6	*8	PV00746	f	f
778178	161	CYP2D6	*130	PV00685	f	f
777704	161	CYP2C9	*19	PV00555	f	f
777438	161	CYP2B6	*9	PV00747	f	f
778180	161	CYP2D6	*131	PV00686	f	f
777578	161	CYP2C19	*26	PV00621	f	f
778182	161	CYP2D6	*132	PV00687	f	f
778184	161	CYP2D6	*133	PV00688	f	f
778188	161	CYP2D6	*135	PV00690	f	f
778190	161	CYP2D6	*136	PV00691	f	f
6355231	1	CFTR	D924N	\N	f	f
777333	91	CFTR	E56K	\N	f	f
6355241	1	CFTR	E822K	\N	f	f
6355245	1	CFTR	F311del	\N	f	f
6355247	1	CFTR	F311L	\N	f	f
778192	161	CYP2D6	*137	PV00692	f	f
778196	161	CYP2D6	*139	PV00728	f	f
778200	161	CYP2D6	*141	PV02389	f	f
778202	161	CYP2D6	*142	PV01434	f	f
778206	161	CYP2D6	*144	PV01436	f	f
778208	161	CYP2D6	*145	PV01437	f	f
1103377	143	CYP2D6	*146	PV01717	f	f
6355249	1	CFTR	F508C	\N	f	f
6355251	1	CFTR	F508C;S1251N	\N	f	f
6355257	1	CFTR	G178E	\N	f	f
6355261	1	CFTR	G194R(G>A)	\N	f	f
6355263	1	CFTR	G194R(G>C)	\N	f	f
6355265	1	CFTR	G314E	\N	f	f
6355271	1	CFTR	G576A	\N	f	f
6355273	1	CFTR	G970D	\N	f	f
6355279	1	CFTR	G1249R(G>A)	\N	f	f
1103379	143	CYP2D6	*147	PV01805	f	f
6355281	1	CFTR	G1249R(G>C)	\N	f	f
6355285	1	CFTR	H939R	\N	f	f
6355287	1	CFTR	H1375P	\N	f	f
1609527	124	CYP2D6	*148	PV01745	f	f
1103381	143	CYP2D6	*149	PV01730	f	f
2677013	83	CYP2D6	*151	PV02194	f	f
6359185	1	CYP2D6	*36+*10	\N	f	f
2091236	105	CYP2D6	*152	PV02155	f	f
777442	161	CYP2B6	*11	PV00749	f	f
777592	161	CYP2C19	*34	PV02143	f	f
6235065	4	CYP2C19	*41	PV02896	f	f
6355315	1	CFTR	M952I(G>A)	\N	f	f
6355325	1	CFTR	Q237E	\N	f	f
2091238	105	CYP2D6	*153	PV02157	f	f
2091242	105	CYP2D6	*155	PV01936	f	f
2091244	105	CYP2D6	*156	PV01943	f	f
2091246	105	CYP2D6	*157	PV01947	f	f
6355289	1	CFTR	I148T	\N	f	f
6355291	1	CFTR	I175V	\N	f	f
6355293	1	CFTR	I807M	\N	f	f
6355295	1	CFTR	I1027T	\N	f	f
6355297	1	CFTR	I1139V	\N	f	f
6355303	1	CFTR	L320V	\N	f	f
6355305	1	CFTR	L967S	\N	f	f
6355307	1	CFTR	L997F(G>C)	\N	f	f
6355309	1	CFTR	L997F(G>T)	\N	f	f
6355311	1	CFTR	L1480P	\N	f	f
6355313	1	CFTR	M152V	\N	f	f
6355317	1	CFTR	M952I(G>C)	\N	f	f
6355319	1	CFTR	M952I(G>T)	\N	f	f
6355321	1	CFTR	M952T	\N	f	f
777357	91	CFTR	P67L	\N	f	f
6355327	1	CFTR	Q237H	\N	f	f
6355329	1	CFTR	Q359R	\N	f	f
6355331	1	CFTR	Q1291R	\N	f	f
6355335	1	CFTR	R75Q	\N	f	f
777444	161	CYP2B6	*12	PV00750	f	f
777690	161	CYP2C9	*12	PV00548	f	f
777716	161	CYP2C9	*25	PV00561	f	f
777732	161	CYP2C9	*33	PV00569	f	f
777746	161	CYP2C9	*40	PV00576	f	f
6355339	1	CFTR	R117G	\N	f	f
6355343	1	CFTR	R117L	\N	f	f
6355345	1	CFTR	R117P	\N	f	f
6355347	1	CFTR	R170H	\N	f	f
6355351	1	CFTR	R347L	\N	f	f
6355355	1	CFTR	R553Q	\N	f	f
6355357	1	CFTR	R668C	\N	f	f
6355359	1	CFTR	R792G	\N	f	f
6355361	1	CFTR	R933G	\N	f	f
6359187	1	CYP2D6	*13+*1	\N	f	f
6359190	1	CYP2D6	*13+*2	\N	f	f
6359192	1	CYP2D6	*13+*68x2+*4	\N	f	f
6359194	1	CYP2D6	*36x2+*10	\N	f	f
6359197	1	CYP2D6	*68+*2	\N	f	f
777440	161	CYP2B6	*10	PV00748	f	f
778044	161	CYP2D6	*56	PV00480	f	f
779297	154	SLCO1B1	*11	PV01628	f	f
2677051	83	CYP2D6	*170	PV02165	f	f
779299	154	SLCO1B1	*12	PV01629	f	f
6235320	4	CYP2C9	*86	PV02929	f	f
2677045	83	CYP2D6	*167	PV02159	f	f
2677047	83	CYP2D6	*168	PV02161	f	f
2677049	83	CYP2D6	*169	PV02163	f	f
2677053	83	CYP2D6	*171	PV02189	f	f
3318539	60	CYP2D6	*172	PV02301	f	f
5175550	22	CYP2D6	*173	PV02498	f	f
779315	154	SLCO1B1	*20	PV01635	f	f
5175552	22	CYP2D6	*174	PV02500	f	f
5175554	22	CYP2D6	*175	PV02502	f	f
778064	156	CYP2D6	*68	PV00490	f	t
777950	161	CYP2D6	*8	PV00433	f	f
778092	161	CYP2D6	*87	PV00504	f	f
3318599	60	CYP4F2	*15	PV02328	f	f
778024	161	CYP2D6	*46	PV00470	f	f
778026	161	CYP2D6	*47	PV00471	f	f
778028	161	CYP2D6	*48	PV00472	f	f
778030	161	CYP2D6	*49	PV00473	f	f
778032	161	CYP2D6	*50	PV00474	f	f
778034	161	CYP2D6	*51	PV00475	f	f
778036	161	CYP2D6	*52	PV00476	f	f
778038	161	CYP2D6	*53	PV00477	f	f
778056	161	CYP2D6	*62	PV00486	f	f
778040	161	CYP2D6	*54	PV00478	f	f
778042	161	CYP2D6	*55	PV00479	f	f
778060	161	CYP2D6	*64	PV00488	f	f
778048	161	CYP2D6	*58	PV00482	f	f
778050	161	CYP2D6	*59	PV00483	f	f
777946	161	CYP2D6	*6	PV00431	f	f
778054	156	CYP2D6	*61	PV00485	f	t
778068	161	CYP2D6	*70	PV00492	f	f
778058	156	CYP2D6	*63	PV00487	f	t
778072	161	CYP2D6	*72	PV00494	f	f
778062	161	CYP2D6	*65	PV00489	f	f
778076	161	CYP2D6	*74	PV00496	f	f
778066	161	CYP2D6	*69	PV00491	f	f
777948	161	CYP2D6	*7	PV00432	f	f
778070	161	CYP2D6	*71	PV00493	f	f
778080	161	CYP2D6	*81	PV00498	f	f
778074	161	CYP2D6	*73	PV00495	f	f
778084	161	CYP2D6	*83	PV02385	f	f
778078	161	CYP2D6	*75	PV00497	f	f
778088	161	CYP2D6	*85	PV00502	f	f
778082	161	CYP2D6	*82	PV00499	f	f
778108	161	CYP2D6	*95	PV00512	f	f
778086	161	CYP2D6	*84	PV00501	f	f
778114	161	CYP2D6	*98	PV00515	f	f
778090	161	CYP2D6	*86	PV00503	f	f
3318593	60	CYP4F2	*12	PV02322	f	f
778094	161	CYP2D6	*88	PV00505	f	f
778096	161	CYP2D6	*89	PV00506	f	f
777952	161	CYP2D6	*9	PV00434	f	f
778112	161	CYP2D6	*97	PV00514	f	f
777978	161	CYP2D6	*23	PV00447	f	f
3318595	60	CYP4F2	*13	PV02324	f	f
778014	161	CYP2D6	*41	PV00465	f	f
2091254	105	CYP2D6	*161	PV01963	f	f
778020	161	CYP2D6	*44	PV00468	f	f
5409119	18	CYP2D6	*176	PV02519	f	f
4058604	37	CYP4F2	*17	PV02391	f	f
5763832	12	CYP2D6	*177	PV02522	f	f
779335	154	SLCO1B1	*30	PV01643	f	f
2784572	79	CYP4F2	*4	PV02221	f	f
5998158	8	CYP2D6	*178	PV02809	f	f
5998160	8	CYP2D6	*179	PV02811	f	f
5998162	8	CYP2D6	*180	PV02813	f	f
5998164	8	CYP2D6	*181	PV02815	f	f
5998166	8	CYP2D6	*182	PV02817	f	f
5998168	8	CYP2D6	*183	PV02819	f	f
5998170	8	CYP2D6	*184	PV02821	f	f
5998172	8	CYP2D6	*185	PV02823	f	f
777970	161	CYP2D6	*19	PV02196	f	f
2784576	79	CYP4F2	*6	PV02225	f	f
777988	161	CYP2D6	*28	PV00452	f	f
778016	161	CYP2D6	*42	PV02297	f	f
778018	161	CYP2D6	*43	PV00467	f	f
778022	161	CYP2D6	*45	PV00469	f	f
2784578	79	CYP4F2	*7	PV02227	f	f
3318601	60	CYP4F2	*16	PV02312	f	t
778240	160	CYP4F2	*2	PV02213	f	f
779080	160	NUDT15	*9	PV01605	f	f
3318585	60	CYP4F2	*8	PV02314	f	f
1002693	145	SLCO1B1	*41	PV01653	f	f
3318587	60	CYP4F2	*9	PV02316	f	f
779301	154	SLCO1B1	*13	PV01630	f	f
779303	154	SLCO1B1	*14	PV01631	f	f
779305	154	SLCO1B1	*15	PV01632	f	f
1002689	145	SLCO1B1	*39	PV01651	f	f
779307	154	SLCO1B1	*16	PV01633	f	f
779321	154	SLCO1B1	*23	PV01636	f	f
779325	154	SLCO1B1	*25	PV01638	f	f
779323	154	SLCO1B1	*24	PV01637	f	f
779327	154	SLCO1B1	*26	PV01639	f	f
779331	154	SLCO1B1	*28	PV01641	f	f
779281	154	SLCO1B1	*3	PV01620	f	f
779343	154	SLCO1B1	*34	PV01647	f	f
779337	154	SLCO1B1	*31	PV01644	f	f
779283	154	SLCO1B1	*4	PV01621	f	f
6235324	4	CYP2C9	*88	PV02933	f	f
779347	154	SLCO1B1	*36	PV01648	f	f
779339	154	SLCO1B1	*32	PV01645	f	f
6235322	4	CYP2C9	*87	PV02931	f	f
1002695	145	SLCO1B1	*42	PV01654	f	f
1002697	145	SLCO1B1	*43	PV01655	f	f
1002703	145	SLCO1B1	*46	PV01658	f	f
1357091	133	SLCO1B1	*48	PV01732	f	t
1002687	145	SLCO1B1	*38	PV01650	f	f
777532	161	CYP2C19	*1	PV00598	f	f
778186	161	CYP2D6	*134	PV00689	f	f
778204	161	CYP2D6	*143	PV01435	f	f
2091252	105	CYP2D6	*160	PV01958	f	f
778052	161	CYP2D6	*60	PV00484	f	f
2091256	105	CYP2D6	*162	PV01967	f	f
2091258	105	CYP2D6	*163	PV01969	f	f
6235063	4	CYP2C19	*40	PV02894	f	f
6355367	1	CFTR	R1162L	\N	f	f
2677011	83	CYP2D6	*150	PV02524	f	f
2677039	83	CYP2D6	*164	PV02199	f	f
2677043	83	CYP2D6	*166	PV02203	f	f
777758	161	CYP2C9	*46	PV00582	f	f
777682	161	CYP2C9	*8	PV00544	f	f
2091250	105	CYP2D6	*159	PV01954	f	f
3685910	30	RYR1	c.14270G>A	\N	f	f
779232	91	RYR1	c.14387A>G	\N	f	f
3685968	30	RYR1	c.14817C>A	\N	f	f
3685970	30	RYR1	c.14818G>A	\N	f	f
3685972	30	RYR1	c.14825G>T	\N	f	f
3685974	30	RYR1	c.14879T>A	\N	f	f
777554	161	CYP2C19	*12	PV00609	f	f
777556	161	CYP2C19	*13	PV00610	f	f
777558	161	CYP2C19	*14	PV00611	f	f
777560	161	CYP2C19	*15	PV00612	f	f
777562	161	CYP2C19	*16	PV02139	f	f
777564	161	CYP2C19	*17	PV00614	f	f
777566	161	CYP2C19	*18	PV00615	f	f
6355393	1	CFTR	T338I	\N	f	f
6355395	1	CFTR	T1053I	\N	f	f
6355397	1	CFTR	V232D	\N	f	f
777594	161	CYP2C19	*35	PV00629	f	f
778337	91	DPYD	c.295_298delTCAT (*7)	\N	f	f
778435	91	DPYD	c.1905C>G	\N	f	f
778453	91	DPYD	c.2279C>T	\N	f	f
778485	91	DPYD	c.2983G>T (*10)	\N	f	f
777598	156	CYP2C19	*37	PV00732	f	t
778954	91	G6PD	Puerto Limon	\N	f	f
778990	91	G6PD	Santiago de Cuba, Morioka	\N	f	f
778780	93	G6PD	Taipei, Chinese-3	\N	f	f
3685880	30	RYR1	c.13760C>T	\N	f	f
3685882	30	RYR1	c.13913G>A	\N	f	f
3685886	30	RYR1	c.13934G>A	\N	f	f
3685888	30	RYR1	c.13990T>C	\N	f	f
3685890	30	RYR1	c.13994_13995delTCinsCT	\N	f	f
777600	161	CYP2C19	*39	PV01528	f	f
3685892	30	RYR1	c.14002C>T	\N	f	f
6355399	1	CFTR	V562I	\N	f	f
6355401	1	CFTR	V754M	\N	f	f
6355403	1	CFTR	V1293G	\N	f	f
6355405	1	CFTR	W1282R	\N	f	f
6355407	1	CFTR	Y1014C	\N	f	f
6355409	1	CFTR	Y1032C	\N	f	f
777538	161	CYP2C19	*4	PV00601	f	f
777540	161	CYP2C19	*5	PV02131	f	f
777542	161	CYP2C19	*6	PV00603	f	f
777544	161	CYP2C19	*7	PV02134	f	f
777548	161	CYP2C19	*9	PV00606	f	f
778872	91	G6PD	West Virginia	\N	f	f
777568	161	CYP2C19	*19	PV00616	f	f
777534	161	CYP2C19	*2	PV00599	f	f
777570	161	CYP2C19	*22	PV00617	f	f
777572	161	CYP2C19	*23	PV00618	f	f
777574	161	CYP2C19	*24	PV00619	f	f
777576	161	CYP2C19	*25	PV00620	f	f
6355369	1	CFTR	R1283M	\N	f	f
6355377	1	CFTR	S589N	\N	f	f
777944	156	CYP2D6	*5	PV00430	f	t
3685894	30	RYR1	c.14051T>C	\N	f	f
3685896	30	RYR1	c.14126C>T	\N	f	f
1357093	133	SLCO1B1	*49	PV01734	f	t
3685898	30	RYR1	c.14168G>A	\N	f	f
3685900	30	RYR1	c.14186A>C	\N	f	f
3685902	30	RYR1	c.14197T>G	\N	f	f
3685904	30	RYR1	c.14201G>A	\N	f	f
3685906	30	RYR1	c.14209C>T	\N	f	f
3685916	30	RYR1	c.14424C>A	\N	f	f
3685918	30	RYR1	c.14449A>T	\N	f	f
3685920	30	RYR1	c.14458G>A	\N	f	f
3685922	30	RYR1	c.14458G>T	\N	f	f
3685924	30	RYR1	c.14471T>C	\N	f	f
779234	91	RYR1	c.14477C>T	\N	f	f
779236	91	RYR1	c.14497C>T	\N	f	f
3685930	30	RYR1	c.14510delA	\N	f	f
3685932	30	RYR1	c.14509C>G	\N	f	f
779238	91	RYR1	c.14512C>G	\N	f	f
779285	154	SLCO1B1	*5	PV01622	f	f
779240	91	RYR1	c.14545G>A	\N	f	f
3685942	30	RYR1	c.14558C>T	\N	f	f
3685944	30	RYR1	c.14567C>G	\N	f	f
779242	91	RYR1	c.14582G>A	\N	f	f
3685948	30	RYR1	c.14581C>T	\N	f	f
3685950	30	RYR1	c.14627A>G	\N	f	f
3685952	30	RYR1	c.14639T>C	\N	f	f
3685954	30	RYR1	c.14678G>A	\N	f	f
3685956	30	RYR1	c.14680G>A	\N	f	f
779244	91	RYR1	c.14693T>C	\N	f	f
3685960	30	RYR1	c.14782A>G	\N	f	f
3685962	30	RYR1	c.14803G>A	\N	f	f
3685964	30	RYR1	c.14813T>C	\N	f	f
3685966	30	RYR1	c.14814C>G	\N	f	f
3685976	30	RYR1	c.14918C>T	\N	f	f
3685978	30	RYR1	c.14968A>G	\N	f	f
3685980	30	RYR1	c.15059G>C	\N	f	f
779291	154	SLCO1B1	*8	PV01625	f	f
779293	154	SLCO1B1	*9	PV01626	f	f
779287	154	SLCO1B1	*6	PV01623	f	f
779289	154	SLCO1B1	*7	PV01624	f	f
777536	161	CYP2C19	*3	PV00600	f	f
778116	161	CYP2D6	*99	PV00516	f	f
778242	160	CYP4F2	*3	PV02214	f	f
3685936	30	RYR1	c.14524G>A	\N	f	f
3685938	30	RYR1	c.14539G>C	\N	f	f
777550	161	CYP2C19	*10	PV00607	f	f
6355379	1	CFTR	S737F	\N	f	f
6355385	1	CFTR	S1159F	\N	f	f
6355387	1	CFTR	S1159P	\N	f	f
779041	91	IFNL3	rs12979860 reference (C)	\N	t	f
1002623	145	SLCO1B1	*1	PV01618	t	f
779279	154	SLCO1B1	*2	PV01619	f	f
779333	154	SLCO1B1	*29	PV01642	f	f
779043	91	IFNL3	rs12979860 variant (T)	\N	f	f
3685874	30	RYR1	c.13673G>A	\N	f	f
3685876	30	RYR1	c.13672C>T	\N	f	f
3685878	30	RYR1	c.13702C>G	\N	f	f
1002685	145	SLCO1B1	*37	PV01649	f	f
3685908	30	RYR1	c.14210G>A	\N	f	f
777552	161	CYP2C19	*11	PV00608	f	f
1002701	145	SLCO1B1	*45	PV01657	f	f
777672	161	CYP2C9	*3	PV00539	f	f
777726	161	CYP2C9	*30	PV00566	f	f
777728	161	CYP2C9	*31	PV00567	f	f
777730	161	CYP2C9	*32	PV00568	f	f
777734	161	CYP2C9	*34	PV00570	f	f
777738	161	CYP2C9	*36	PV00572	f	f
778483	91	DPYD	c.2977C>T	\N	f	f
778714	91	G6PD	202G>A_376A>G_1264C>G	\N	f	f
778752	91	G6PD	A	\N	f	f
778712	91	G6PD	A- 202A_376G	\N	f	f
778742	91	G6PD	Acrokorinthos	\N	f	f
779002	91	G6PD	Andalus	\N	f	f
778826	91	G6PD	Asahikawa	\N	f	f
778938	91	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	\N	f	f
777740	161	CYP2C9	*37	PV00573	f	f
779038	91	G6PD	Brighton	\N	f	f
778774	91	G6PD	Gond	\N	f	f
778906	91	G6PD	Ierapetra	\N	f	f
778724	91	G6PD	Lagosanto	\N	f	f
778800	92	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	\N	f	f
777742	161	CYP2C9	*38	PV00574	f	f
777744	161	CYP2C9	*39	PV00575	f	f
777748	161	CYP2C9	*41	PV00577	f	f
778802	91	G6PD	Pedoplis-Ckaro	\N	f	f
778744	91	G6PD	Santa Maria	\N	f	f
777750	161	CYP2C9	*42	PV00578	f	f
777806	161	CYP2C9	*70	PV01425	f	f
1406315	131	CYP2C9	*72	PV01736	f	f
777752	161	CYP2C9	*43	PV00579	f	f
777756	161	CYP2C9	*45	PV00581	f	f
777760	161	CYP2C9	*47	PV00583	f	f
777762	161	CYP2C9	*48	PV00584	f	f
777764	161	CYP2C9	*49	PV00585	f	f
777676	161	CYP2C9	*5	PV00541	f	f
777768	161	CYP2C9	*51	PV00587	f	f
777770	161	CYP2C9	*52	PV00588	f	f
777772	161	CYP2C9	*53	PV00589	f	f
777774	161	CYP2C9	*54	PV00590	f	f
777778	161	CYP2C9	*56	PV00592	f	f
777780	161	CYP2C9	*57	PV00593	f	f
1406317	131	CYP2C9	*73	PV01738	f	f
1406319	131	CYP2C9	*74	PV01803	f	f
1932985	111	CYP2C9	*76	PV01780	f	f
1932987	111	CYP2C9	*77	PV01782	f	f
1932989	111	CYP2C9	*78	PV01784	f	f
1932991	111	CYP2C9	*79	PV01786	f	f
777782	161	CYP2C9	*58	PV00594	f	f
777784	161	CYP2C9	*59	PV00595	f	f
777786	161	CYP2C9	*60	PV00596	f	f
1932993	111	CYP2C9	*80	PV01788	f	f
777788	161	CYP2C9	*61	PV00597	f	f
777790	161	CYP2C9	*62	PV00851	f	f
1932997	111	CYP2C9	*82	PV01792	f	f
777792	161	CYP2C9	*63	PV01418	f	f
3685694	30	RYR1	c.7771C>T	\N	f	f
777796	161	CYP2C9	*65	PV01420	f	f
1932999	111	CYP2C9	*83	PV01794	f	f
3685726	30	RYR1	c.8518C>T	\N	f	f
3685758	30	RYR1	c.9758T>C	\N	f	f
3685790	30	RYR1	c.10891G>T	\N	f	f
3685822	30	RYR1	c.11953T>C	\N	f	f
3685856	30	RYR1	c.12553G>A	\N	f	f
777428	161	CYP2B6	*4	PV00742	f	f
777686	161	CYP2C9	*10	PV00546	f	f
777692	161	CYP2C9	*13	PV00549	f	f
777694	161	CYP2C9	*14	PV00550	f	f
777798	161	CYP2C9	*66	PV01421	f	f
777800	161	CYP2C9	*67	PV01422	f	f
777802	161	CYP2C9	*68	PV01423	f	f
777698	161	CYP2C9	*16	PV00552	f	f
777700	161	CYP2C9	*17	PV00553	f	f
777702	161	CYP2C9	*18	PV00554	f	f
777670	161	CYP2C9	*2	PV00538	f	f
777706	161	CYP2C9	*20	PV00556	f	f
1933001	111	CYP2C9	*84	PV01796	f	f
777684	161	CYP2C9	*9	PV00545	f	f
777994	161	CYP2D6	*31	PV00455	f	f
6235905	4	CYP4F2	*18	PV02945	f	f
6235907	4	CYP4F2	*19	PV02947	f	f
777712	161	CYP2C9	*23	PV00559	f	f
6235909	4	CYP4F2	*20	PV02949	f	f
777804	161	CYP2C9	*69	PV01424	f	f
6235911	4	CYP4F2	*21	PV02951	f	f
6235913	4	CYP4F2	*22	PV02953	f	f
6235915	4	CYP4F2	*23	PV02955	f	f
777714	161	CYP2C9	*24	PV00560	f	f
777720	161	CYP2C9	*27	PV00563	f	f
777722	161	CYP2C9	*28	PV00564	f	f
777724	161	CYP2C9	*29	PV00565	f	f
777472	161	CYP2B6	*27	PV00765	f	f
2899142	75	CYP2B6	*39	PV02266	f	f
2899146	75	CYP2B6	*41	PV02270	f	f
2899148	75	CYP2B6	*42	PV02272	f	f
2899150	75	CYP2B6	*43	PV02274	f	f
2899152	75	CYP2B6	*44	PV02276	f	f
777530	161	CYP2C19	*38	PV02145	t	f
777936	161	CYP2D6	*1	PV00426	t	f
777954	161	CYP2D6	*10	PV00435	f	f
778118	161	CYP2D6	*100	PV00517	f	f
778120	161	CYP2D6	*101	PV00518	f	f
778122	161	CYP2D6	*102	PV00519	f	f
778124	161	CYP2D6	*103	PV00520	f	f
778126	161	CYP2D6	*104	PV00521	f	f
778128	161	CYP2D6	*105	PV00522	f	f
778130	161	CYP2D6	*106	PV00523	f	f
778132	161	CYP2D6	*107	PV00524	f	f
778136	161	CYP2D6	*109	PV00526	f	f
777956	161	CYP2D6	*11	PV00436	f	f
778138	161	CYP2D6	*110	PV00527	f	f
778140	161	CYP2D6	*111	PV00528	f	f
778142	161	CYP2D6	*112	PV00529	f	f
778144	161	CYP2D6	*113	PV00530	f	f
777962	161	CYP2D6	*14	PV00439	f	f
777964	161	CYP2D6	*15	PV00440	f	f
777966	161	CYP2D6	*17	PV00441	f	f
777968	161	CYP2D6	*18	PV01591	f	f
777938	161	CYP2D6	*2	PV00427	f	f
777972	161	CYP2D6	*20	PV01749	f	f
777974	161	CYP2D6	*21	PV02825	f	f
777976	161	CYP2D6	*22	PV00446	f	f
777980	161	CYP2D6	*24	PV00448	f	f
777982	161	CYP2D6	*25	PV00449	f	f
777984	161	CYP2D6	*26	PV00450	f	f
777986	161	CYP2D6	*27	PV00451	f	f
777990	161	CYP2D6	*29	PV00453	f	f
777940	161	CYP2D6	*3	PV00428	f	f
777992	161	CYP2D6	*30	PV00454	f	f
777996	161	CYP2D6	*32	PV00456	f	f
777998	161	CYP2D6	*33	PV00457	f	f
778000	161	CYP2D6	*34	PV00458	f	f
778002	161	CYP2D6	*35	PV00459	f	f
778004	161	CYP2D6	*36	PV02379	f	f
778006	161	CYP2D6	*37	PV00461	f	f
778008	161	CYP2D6	*38	PV01592	f	f
778010	161	CYP2D6	*39	PV00463	f	f
777942	161	CYP2D6	*4	PV00429	f	f
778012	161	CYP2D6	*40	PV00464	f	f
6237969	4	SLCO1B1	*50	PV02969	f	f
6237971	4	SLCO1B1	*51	PV02971	f	f
6237973	4	SLCO1B1	*52	PV02973	f	f
6237975	4	SLCO1B1	*53	PV02975	f	f
6237977	4	SLCO1B1	*54	PV02977	f	f
778156	161	CYP2D6	*119	PV00536	f	f
778160	161	CYP2D6	*121	PV00631	f	f
828095	90	MT-RNR1	Reference	\N	t	f
3827872	24	MT-RNR1	m.663A>G	\N	f	f
778162	161	CYP2D6	*122	PV00632	f	f
778164	161	CYP2D6	*123	PV00633	f	f
778166	161	CYP2D6	*124	PV00634	f	f
778168	161	CYP2D6	*125	PV00681	f	f
778170	161	CYP2D6	*126	PV00682	f	f
779394	91	TPMT	*2	\N	f	f
779396	91	TPMT	*3A	\N	f	f
779398	91	TPMT	*3B	\N	f	f
779400	91	TPMT	*3C	\N	f	f
3827874	24	MT-RNR1	m.669T>C	\N	f	f
3827876	24	MT-RNR1	m.747A>G	\N	f	f
3827878	24	MT-RNR1	m.786G>A	\N	f	f
3827880	24	MT-RNR1	m.807A>C	\N	f	f
3827882	24	MT-RNR1	m.807A>G	\N	f	f
779402	91	TPMT	*4	\N	f	f
779404	91	TPMT	*5	\N	f	f
779406	91	TPMT	*6	\N	f	f
779408	91	TPMT	*7	\N	f	f
779410	91	TPMT	*8	\N	f	f
779412	91	TPMT	*9	\N	f	f
779414	91	TPMT	*10	\N	f	f
779416	91	TPMT	*11	\N	f	f
779418	91	TPMT	*12	\N	f	f
779420	91	TPMT	*13	\N	f	f
779422	91	TPMT	*14	\N	f	f
779424	91	TPMT	*15	\N	f	f
779426	91	TPMT	*16	\N	f	f
779428	91	TPMT	*17	\N	f	f
779430	91	TPMT	*18	\N	f	f
779432	91	TPMT	*19	\N	f	f
778172	161	CYP2D6	*127	PV00635	f	f
778174	161	CYP2D6	*128	PV01408	f	f
778176	161	CYP2D6	*129	PV00684	f	f
778098	161	CYP2D6	*90	PV00507	f	f
3318597	60	CYP4F2	*14	PV02326	f	f
2784574	79	CYP4F2	*5	PV02223	f	f
779295	154	SLCO1B1	*10	PV01627	f	f
779313	154	SLCO1B1	*19	PV01634	f	f
779329	154	SLCO1B1	*27	PV01640	f	f
779341	154	SLCO1B1	*33	PV01646	f	f
1002691	145	SLCO1B1	*40	PV01652	f	f
1002705	145	SLCO1B1	*47	PV01659	f	f
3827884	24	MT-RNR1	m.827A>G	\N	f	f
3827886	24	MT-RNR1	m.839A>G	\N	f	f
3827888	24	MT-RNR1	m.896A>G	\N	f	f
3827890	24	MT-RNR1	m.930A>G	\N	f	f
3827892	24	MT-RNR1	m.951G>A	\N	f	f
3827894	24	MT-RNR1	m.960C>del	\N	f	f
779434	91	TPMT	*20	\N	f	f
779436	91	TPMT	*21	\N	f	f
779438	91	TPMT	*22	\N	f	f
779440	91	TPMT	*23	\N	f	f
779442	91	TPMT	*24	\N	f	f
779444	91	TPMT	*25	\N	f	f
777262	91	CACNA1S	Reference	\N	t	f
777266	91	CACNA1S	c.3257G>A	\N	f	f
777307	91	CFTR	ivacaftor non-responsive CFTR sequence	\N	t	f
777339	91	CFTR	F1074L	\N	f	f
777379	91	CFTR	S549R(A>C)	\N	f	f
777446	161	CYP2B6	*13	PV00751	f	f
3827896	24	MT-RNR1	m.961T>G	\N	f	f
3827898	24	MT-RNR1	m.961T>del	\N	f	f
3827900	24	MT-RNR1	m.961T>del+Cn	\N	f	f
3827902	24	MT-RNR1	m.988G>A	\N	f	f
3827904	24	MT-RNR1	m.1095T>C	\N	f	f
3827906	24	MT-RNR1	m.1189T>C	\N	f	f
3827908	24	MT-RNR1	m.1243T>C	\N	f	f
3827910	24	MT-RNR1	m.1494C>T	\N	f	f
3827912	24	MT-RNR1	m.1520T>C	\N	f	f
3827914	24	MT-RNR1	m.1537C>T	\N	f	f
3827916	24	MT-RNR1	m.1555A>G	\N	f	f
3827918	24	MT-RNR1	m.1556C>T	\N	f	f
3685982	30	RYR1	c.15060G>C	\N	f	f
3685984	30	RYR1	c.14364+1G>T	\N	f	f
777458	161	CYP2B6	*20	PV00758	f	f
777488	161	CYP2B6	*35	PV00775	f	f
777546	161	CYP2C19	*8	PV02136	f	f
777688	161	CYP2C9	*11	PV00547	f	f
777696	161	CYP2C9	*15	PV00551	f	f
777710	161	CYP2C9	*22	PV00558	f	f
777674	161	CYP2C9	*4	PV00540	f	f
779392	91	TPMT	*1	\N	t	f
778146	161	CYP2D6	*114	PV00531	f	f
778148	161	CYP2D6	*115	PV00532	f	f
778150	161	CYP2D6	*116	PV00533	f	f
778152	161	CYP2D6	*117	PV00534	f	f
1002699	145	SLCO1B1	*44	PV01656	f	f
779458	91	TPMT	*32	\N	f	f
779460	91	TPMT	*33	\N	f	f
779462	91	TPMT	*34	\N	f	f
779464	91	TPMT	*35	\N	f	f
779466	91	TPMT	*36	\N	f	f
779468	91	TPMT	*37	\N	f	f
779470	91	TPMT	*38	\N	f	f
779472	91	TPMT	*39	\N	f	f
779474	91	TPMT	*40	\N	f	f
779476	91	TPMT	*41	\N	f	f
779478	91	TPMT	*42	\N	f	f
779480	91	TPMT	*43	\N	f	f
779482	91	TPMT	*44	\N	f	f
779488	91	UGT1A1	*1	\N	t	f
779490	91	UGT1A1	*6	\N	f	f
779492	91	UGT1A1	*27	\N	f	f
779494	91	UGT1A1	*28	\N	f	f
779496	91	UGT1A1	*36	\N	f	f
779498	91	UGT1A1	*37	\N	f	f
779500	91	UGT1A1	*80	\N	f	f
779502	91	UGT1A1	*80+*28	\N	f	f
779504	91	UGT1A1	*80+*37	\N	f	f
779507	91	VKORC1	rs9923231 reference (C)	\N	t	f
779509	91	VKORC1	rs9923231 variant (T)	\N	f	f
778218	161	CYP3A5	*1	PV01323	t	f
778222	161	CYP3A5	*3	PV01325	f	f
778230	161	CYP3A5	*7	PV01329	f	f
778232	161	CYP3A5	*8	PV01330	f	f
778234	161	CYP3A5	*9	PV01331	f	f
779064	160	NUDT15	*1	PV01597	t	f
779082	160	NUDT15	*10	PV01606	f	f
779084	160	NUDT15	*11	PV01607	f	f
779086	160	NUDT15	*12	PV01608	f	f
779088	160	NUDT15	*13	PV01609	f	f
779090	160	NUDT15	*14	PV01610	f	f
779092	160	NUDT15	*15	PV01611	f	f
779094	160	NUDT15	*16	PV01612	f	f
779096	160	NUDT15	*17	PV01613	f	f
779098	160	NUDT15	*18	PV01614	f	f
779100	160	NUDT15	*19	PV01615	f	f
779066	160	NUDT15	*2	PV01598	f	f
779102	160	NUDT15	*20	PV01616	f	f
5881976	10	NUDT15	*21	PV02804	f	f
779160	91	RYR1	c.742G>A	\N	f	f
3685398	30	RYR1	c.1144C>A	\N	f	f
3685428	30	RYR1	c.1565A>G	\N	f	f
3685458	30	RYR1	c.2537C>T	\N	f	f
3685488	30	RYR1	c.4024A>G	\N	f	f
3685520	30	RYR1	c.5440A>G	\N	f	f
3685550	30	RYR1	c.6488G>T	\N	f	f
3685580	30	RYR1	c.6743G>A	\N	f	f
779202	91	RYR1	c.7063C>T	\N	f	f
779206	91	RYR1	c.7282G>A	\N	f	f
779068	160	NUDT15	*3	PV01599	f	f
779070	160	NUDT15	*4	PV01600	f	f
3685646	30	RYR1	c.7292A>T	\N	f	f
779220	91	RYR1	c.7373G>A	\N	f	f
3685704	30	RYR1	c.7879G>C	\N	f	f
3685734	30	RYR1	c.8654C>G	\N	f	f
3685764	30	RYR1	c.9850T>A	\N	f	f
3685794	30	RYR1	c.11120G>T	\N	f	f
3685824	30	RYR1	c.11958C>G	\N	f	f
3685854	30	RYR1	c.12533G>T	\N	f	f
3685884	30	RYR1	c.13918A>G	\N	f	f
3685914	30	RYR1	c.14422_14423delinsAA	\N	f	f
779446	91	TPMT	*26	\N	f	f
779072	160	NUDT15	*5	PV01601	f	f
1508724	72	ABCG2	rs2231142 reference (G)	\N	t	f
779448	91	TPMT	*27	\N	f	f
779450	91	TPMT	*28	\N	f	f
779452	91	TPMT	*29	\N	f	f
779454	91	TPMT	*30	\N	f	f
779456	91	TPMT	*31	\N	f	f
779074	160	NUDT15	*6	PV01602	f	f
779076	160	NUDT15	*7	PV01603	f	f
779078	160	NUDT15	*8	PV01604	f	f
3685310	30	RYR1	c.51_53del	\N	f	f
778228	161	CYP3A5	*6	PV01328	f	f
3685308	30	RYR1	c.38T>G	\N	f	f
3685312	30	RYR1	c.97A>G	\N	f	f
779150	91	RYR1	c.103T>C	\N	f	f
3318589	60	CYP4F2	*10	PV02318	f	f
3685316	30	RYR1	c.119G>C	\N	f	f
779152	91	RYR1	c.130C>T	\N	f	f
3685320	30	RYR1	c.131G>A	\N	f	f
3685322	30	RYR1	c.152C>A	\N	f	f
3685324	30	RYR1	c.178G>A	\N	f	f
3685326	30	RYR1	c.178G>T	\N	f	f
3685328	30	RYR1	c.190T>C	\N	f	f
3685330	30	RYR1	c.212C>A	\N	f	f
3685332	30	RYR1	c.251C>T	\N	f	f
3685334	30	RYR1	c.418G>A	\N	f	f
3685336	30	RYR1	c.455C>A	\N	f	f
3685338	30	RYR1	c.463C>A	\N	f	f
3685340	30	RYR1	c.467G>A	\N	f	f
3685342	30	RYR1	c.479A>G	\N	f	f
779154	91	RYR1	c.487C>T	\N	f	f
779156	91	RYR1	c.488G>T	\N	f	f
3685526	30	RYR1	c.6037A>C	\N	f	f
3685348	30	RYR1	c.488G>A	\N	f	f
3685350	30	RYR1	c.493G>A	\N	f	f
3685352	30	RYR1	c.496G>A	\N	f	f
3685354	30	RYR1	c.497A>G	\N	f	f
3685356	30	RYR1	c.526G>A	\N	f	f
3685358	30	RYR1	c.528G>T	\N	f	f
3685360	30	RYR1	c.529C>T	\N	f	f
3685362	30	RYR1	c.533A>G	\N	f	f
3685364	30	RYR1	c.533A>C	\N	f	f
3685368	30	RYR1	c.641C>T	\N	f	f
3685370	30	RYR1	c.652G>A	\N	f	f
3685372	30	RYR1	c.677T>A	\N	f	f
3685374	30	RYR1	c.680A>T	\N	f	f
779158	91	RYR1	c.742G>C	\N	f	f
3685380	30	RYR1	c.946C>T	\N	f	f
3685382	30	RYR1	c.947G>T	\N	f	f
779162	91	RYR1	c.982C>T	\N	f	f
3685386	30	RYR1	c.992_994dup	\N	f	f
779164	91	RYR1	c.1021G>A	\N	f	f
779166	91	RYR1	c.1021G>C	\N	f	f
3685392	30	RYR1	c.1024G>A	\N	f	f
3685394	30	RYR1	c.1100G>A	\N	f	f
3685396	30	RYR1	c.1100G>T	\N	f	f
779168	91	RYR1	c.1201C>T	\N	f	f
3685402	30	RYR1	c.1201C>A	\N	f	f
3685404	30	RYR1	c.1201C>G	\N	f	f
3685406	30	RYR1	c.1202G>T	\N	f	f
3685408	30	RYR1	c.1202G>A	\N	f	f
779170	91	RYR1	c.1209C>G	\N	f	f
3685412	30	RYR1	c.1411C>T	\N	f	f
3685414	30	RYR1	c.1422G>T	\N	f	f
3685416	30	RYR1	c.1453A>G	\N	f	f
3685418	30	RYR1	c.1459C>G	\N	f	f
3685420	30	RYR1	c.1460T>C	\N	f	f
3685422	30	RYR1	c.1475G>A	\N	f	f
3685424	30	RYR1	c.1553T>C	\N	f	f
779172	91	RYR1	c.1565A>C	\N	f	f
779174	91	RYR1	c.1589G>A	\N	f	f
779176	91	RYR1	c.1597C>T	\N	f	f
3685434	30	RYR1	c.1597C>A	\N	f	f
779178	91	RYR1	c.1598G>A	\N	f	f
3685438	30	RYR1	c.1615T>C	\N	f	f
3685440	30	RYR1	c.1615T>G	\N	f	f
3685442	30	RYR1	c.1630G>T	\N	f	f
779180	91	RYR1	c.1654C>T	\N	f	f
3685446	30	RYR1	c.1834G>C	\N	f	f
779182	91	RYR1	c.1840C>T	\N	f	f
779184	91	RYR1	c.1841G>T	\N	f	f
3685452	30	RYR1	c.2050G>C	\N	f	f
3685454	30	RYR1	c.2122G>A	\N	f	f
3685456	30	RYR1	c.2447C>T	\N	f	f
3685460	30	RYR1	c.2654G>A	\N	f	f
3685462	30	RYR1	c.2797G>A	\N	f	f
3685464	30	RYR1	c.2924G>A	\N	f	f
3685466	30	RYR1	c.2996G>A	\N	f	f
3685468	30	RYR1	c.3095G>A	\N	f	f
3685470	30	RYR1	c.3127C>T	\N	f	f
3685472	30	RYR1	c.3166G>C	\N	f	f
3685474	30	RYR1	c.3166G>A	\N	f	f
3685476	30	RYR1	c.3172G>A	\N	f	f
3685478	30	RYR1	c.3224G>A	\N	f	f
3685480	30	RYR1	c.3418C>T	\N	f	f
3685482	30	RYR1	c.3527C>T	\N	f	f
3685484	30	RYR1	c.3656A>C	\N	f	f
3685486	30	RYR1	c.3667G>A	\N	f	f
3685490	30	RYR1	c.4178A>G	\N	f	f
3685492	30	RYR1	c.4400A>G	\N	f	f
3685494	30	RYR1	c.4711A>G	\N	f	f
3685496	30	RYR1	c.4747C>T	\N	f	f
3685498	30	RYR1	c.4763C>T	\N	f	f
3685500	30	RYR1	c.4775C>T	\N	f	f
3685502	30	RYR1	c.5024T>C	\N	f	f
3685504	30	RYR1	c.5033A>G	\N	f	f
3685506	30	RYR1	c.5036G>A	\N	f	f
3685508	30	RYR1	c.5132A>G	\N	f	f
3685510	30	RYR1	c.5183C>T	\N	f	f
3685512	30	RYR1	c.5186T>G	\N	f	f
3685514	30	RYR1	c.5317C>T	\N	f	f
3685516	30	RYR1	c.5341T>C	\N	f	f
3685518	30	RYR1	c.5360C>T	\N	f	f
3685522	30	RYR1	c.5441T>A	\N	f	f
3685524	30	RYR1	c.5890C>T	\N	f	f
3685528	30	RYR1	c.6178G>T	\N	f	f
3685530	30	RYR1	c.6302T>A	\N	f	f
3685532	30	RYR1	c.6304G>C	\N	f	f
3685534	30	RYR1	c.6349G>C	\N	f	f
3685536	30	RYR1	c.6377G>A	\N	f	f
3685538	30	RYR1	c.6387C>G	\N	f	f
3685540	30	RYR1	c.6388G>A	\N	f	f
3685542	30	RYR1	c.6478G>A	\N	f	f
779186	91	RYR1	c.6487C>T	\N	f	f
779188	91	RYR1	c.6488G>A	\N	f	f
3685548	30	RYR1	c.6488G>C	\N	f	f
779190	91	RYR1	c.6502G>A	\N	f	f
3685554	30	RYR1	c.6544A>T	\N	f	f
3685556	30	RYR1	c.6548G>A	\N	f	f
3685558	30	RYR1	c.6599C>T	\N	f	f
778104	161	CYP2D6	*93	PV00510	f	f
778238	160	CYP4F2	*1	PV02212	t	f
3318591	60	CYP4F2	*11	PV02320	f	f
779148	91	RYR1	Reference	\N	t	f
778154	161	CYP2D6	*118	PV00535	f	f
778345	91	DPYD	c.496A>G	\N	f	f
778359	91	DPYD	c.775A>G	\N	f	f
778347	91	DPYD	c.498G>A	\N	f	f
778361	91	DPYD	c.868A>G	\N	f	f
778363	91	DPYD	c.929T>C	\N	f	f
778365	91	DPYD	c.934C>T	\N	f	f
778367	91	DPYD	c.967G>A	\N	f	f
778369	91	DPYD	c.1003G>T (*11)	\N	f	f
778327	91	DPYD	Reference	\N	t	f
778329	91	DPYD	c.46C>G	\N	f	f
778331	91	DPYD	c.61C>T	\N	f	f
778375	91	DPYD	c.1108A>G	\N	f	f
3942827	23	DPYD	c.1129-5923C>G	\N	f	f
777718	161	CYP2C9	*26	PV00562	f	f
778377	91	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	\N	f	f
778379	91	DPYD	c.1156G>T (*12)	\N	f	f
778381	91	DPYD	c.1180C>T	\N	f	f
778383	91	DPYD	c.1181G>T	\N	f	f
778385	91	DPYD	c.1218G>A	\N	f	f
777736	161	CYP2C9	*35	PV00571	f	f
777754	161	CYP2C9	*44	PV00580	f	f
778349	91	DPYD	c.525G>A	\N	f	f
778351	91	DPYD	c.557A>G	\N	f	f
2091240	105	CYP2D6	*154	PV01934	f	f
777808	161	CYP2C9	*71	PV01444	f	f
778353	91	DPYD	c.601A>C	\N	f	f
778387	91	DPYD	c.1260T>A	\N	f	f
778389	91	DPYD	c.1278G>T	\N	f	f
778391	91	DPYD	c.1294G>A	\N	f	f
778393	91	DPYD	c.1314T>G	\N	f	f
778395	91	DPYD	c.1349C>T	\N	f	f
778397	91	DPYD	c.1358C>G	\N	f	f
778399	91	DPYD	c.1371C>T	\N	f	f
778401	91	DPYD	c.1403C>A	\N	f	f
778403	91	DPYD	c.1475C>T	\N	f	f
778405	91	DPYD	c.1484A>G	\N	f	f
778407	91	DPYD	c.1519G>A	\N	f	f
778409	91	DPYD	c.1543G>A	\N	f	f
778411	91	DPYD	c.1577C>G	\N	f	f
3685592	30	RYR1	c.7018T>C	\N	f	f
778413	91	DPYD	c.1601G>A (*4)	\N	f	f
778415	91	DPYD	c.1615G>A	\N	f	f
778417	91	DPYD	c.1627A>G (*5)	\N	f	f
778419	91	DPYD	c.1679T>G (*13)	\N	f	f
778421	91	DPYD	c.1682G>T	\N	f	f
778423	91	DPYD	c.1774C>T	\N	f	f
778425	91	DPYD	c.1775G>A	\N	f	f
778427	91	DPYD	c.1777G>A	\N	f	f
778429	91	DPYD	c.1796T>C	\N	f	f
778431	91	DPYD	c.1896T>C	\N	f	f
778433	91	DPYD	c.1898delC (*3)	\N	f	f
778437	91	DPYD	c.1905+1G>A (*2A)	\N	f	f
778445	91	DPYD	c.2161G>A	\N	f	f
778447	91	DPYD	c.2186C>T	\N	f	f
778449	91	DPYD	c.2194G>A (*6)	\N	f	f
778451	91	DPYD	c.2195T>G	\N	f	f
778455	91	DPYD	c.2303C>A	\N	f	f
778457	91	DPYD	c.2336C>A	\N	f	f
778459	91	DPYD	c.2482G>A	\N	f	f
778461	91	DPYD	c.2582A>G	\N	f	f
778463	91	DPYD	c.2623A>C	\N	f	f
778465	91	DPYD	c.2639G>T	\N	f	f
778467	91	DPYD	c.2656C>T	\N	f	f
778469	91	DPYD	c.2657G>A (*9B)	\N	f	f
778471	91	DPYD	c.2846A>T	\N	f	f
778473	91	DPYD	c.2872A>G	\N	f	f
778475	91	DPYD	c.2915A>G	\N	f	f
778477	91	DPYD	c.2921A>T	\N	f	f
778479	91	DPYD	c.2933A>G	\N	f	f
778481	91	DPYD	c.2978T>G	\N	f	f
778487	91	DPYD	c.3049G>A	\N	f	f
778489	91	DPYD	c.3061G>C	\N	f	f
778491	91	DPYD	c.3067C>A	\N	f	f
3685366	30	RYR1	c.625G>A	\N	f	f
3685560	30	RYR1	c.6612C>G	\N	f	f
779192	91	RYR1	c.6617C>G	\N	f	f
779194	91	RYR1	c.6617C>T	\N	f	f
3685566	30	RYR1	c.6628G>T	\N	f	f
3685568	30	RYR1	c.6635T>A	\N	f	f
3685570	30	RYR1	c.6640G>A	\N	f	f
3685572	30	RYR1	c.6671G>A	\N	f	f
3685574	30	RYR1	c.6670C>T	\N	f	f
3685576	30	RYR1	c.6710G>A	\N	f	f
3685578	30	RYR1	c.6742C>T	\N	f	f
3685582	30	RYR1	c.6757C>T	\N	f	f
3685584	30	RYR1	c.6838G>A	\N	f	f
3685586	30	RYR1	c.6847A>C	\N	f	f
3685588	30	RYR1	c.6961A>G	\N	f	f
779196	91	RYR1	c.7007G>A	\N	f	f
2899144	75	CYP2B6	*40	PV02268	f	f
2899160	75	CYP2B6	*48	PV02284	f	f
777586	161	CYP2C19	*31	PV00625	f	f
777596	156	CYP2C19	*36	PV00730	f	t
777668	161	CYP2C9	*1	PV00537	t	f
777708	161	CYP2C9	*21	PV00557	f	f
1932995	111	CYP2C9	*81	PV01790	f	f
778134	161	CYP2D6	*108	PV00525	f	f
778158	161	CYP2D6	*120	PV00630	f	f
777960	156	CYP2D6	*13	PV00438	f	t
778194	161	CYP2D6	*138	PV00722	f	f
778198	161	CYP2D6	*140	PV01361	f	f
2091248	105	CYP2D6	*158	PV01951	f	f
2677041	83	CYP2D6	*165	PV02201	f	f
778333	91	DPYD	c.62G>A	\N	f	f
778335	91	DPYD	c.85T>C (*9A)	\N	f	f
778355	91	DPYD	c.632A>G	\N	f	f
778371	91	DPYD	c.1024G>A	\N	f	f
778339	91	DPYD	c.313G>A	\N	f	f
778341	91	DPYD	c.343A>G	\N	f	f
778357	91	DPYD	c.703C>T (*8)	\N	f	f
778373	91	DPYD	c.1057C>T	\N	f	f
778343	91	DPYD	c.451A>G	\N	f	f
777422	161	CYP2B6	*1	PV00738	t	f
777424	161	CYP2B6	*2	PV00740	f	f
777426	161	CYP2B6	*3	PV00741	f	f
1508726	72	ABCG2	rs2231142 variant (T)	\N	f	f
777264	91	CACNA1S	c.520C>T	\N	f	f
777315	91	CFTR	711+3A->G	\N	f	f
777309	91	CFTR	2789+5G->A	\N	f	f
777311	91	CFTR	3272-26A->G	\N	f	f
777313	91	CFTR	3849+10kbC->T	\N	f	f
777319	91	CFTR	A455E	\N	f	f
777317	91	CFTR	A1067T	\N	f	f
777321	91	CFTR	D110E	\N	f	f
777323	91	CFTR	D110H	\N	f	f
777329	91	CFTR	D579G	\N	f	f
777325	91	CFTR	D1152H	\N	f	f
777327	91	CFTR	D1270N	\N	f	f
777331	91	CFTR	E193K	\N	f	f
777335	91	CFTR	E831X	\N	f	f
777337	91	CFTR	F1052V	\N	f	f
777347	91	CFTR	G178R	\N	f	f
777349	91	CFTR	G551D	\N	f	f
777351	91	CFTR	G551S	\N	f	f
777341	91	CFTR	G1069R	\N	f	f
777343	91	CFTR	G1244E	\N	f	f
777345	91	CFTR	G1349D	\N	f	f
777353	91	CFTR	K1060T	\N	f	f
777355	91	CFTR	L206W	\N	f	f
777371	91	CFTR	R74W	\N	f	f
777363	91	CFTR	R117C	\N	f	f
777365	91	CFTR	R117H	\N	f	f
777367	91	CFTR	R347H	\N	f	f
777369	91	CFTR	R352Q	\N	f	f
777359	91	CFTR	R1070Q	\N	f	f
777361	91	CFTR	R1070W	\N	f	f
777377	91	CFTR	S549N	\N	f	f
777381	91	CFTR	S549R(T>G)	\N	f	f
777383	91	CFTR	S945L	\N	f	f
777385	91	CFTR	S977F	\N	f	f
777373	91	CFTR	S1251N	\N	f	f
777375	91	CFTR	S1255P	\N	f	f
777582	161	CYP2C19	*29	PV00623	f	f
777584	161	CYP2C19	*30	PV02141	f	f
777588	161	CYP2C19	*32	PV00626	f	f
777590	161	CYP2C19	*33	PV00627	f	f
778100	161	CYP2D6	*91	PV00508	f	f
778102	161	CYP2D6	*92	PV00509	f	f
778106	161	CYP2D6	*94	PV00511	f	f
778110	161	CYP2D6	*96	PV00513	f	f
778439	91	DPYD	c.1906A>C	\N	f	f
778441	91	DPYD	c.1990G>T	\N	f	f
778443	91	DPYD	c.2021G>A	\N	f	f
778666	92	G6PD	B (reference)	\N	t	f
778748	91	G6PD	A- 680T_376G	\N	f	f
778750	91	G6PD	A- 968C_376G	\N	f	f
778916	91	G6PD	Aachen	\N	f	f
778962	91	G6PD	Abeno	\N	f	f
778950	91	G6PD	Alhambra	\N	f	f
778702	91	G6PD	Amazonia	\N	f	f
779006	91	G6PD	Amiens	\N	f	f
778700	91	G6PD	Amsterdam	\N	f	f
778956	91	G6PD	Anadia	\N	f	f
778746	91	G6PD	Ananindeua	\N	f	f
779036	91	G6PD	Arakawa	\N	f	f
778708	91	G6PD	Asahi	\N	f	f
778686	91	G6PD	Aures	\N	f	f
778836	91	G6PD	Aveiro	\N	f	f
778858	91	G6PD	Bajo Maumere	\N	f	f
778844	91	G6PD	Bangkok	\N	f	f
779008	91	G6PD	Bangkok Noi	\N	f	f
778738	91	G6PD	Bao Loc	\N	f	f
778952	91	G6PD	Bari	\N	f	f
778766	91	G6PD	Belem	\N	f	f
779034	91	G6PD	Buenos Aires	\N	f	f
778762	91	G6PD	Cairo	\N	f	f
778922	91	G6PD	Calvo Mackenna	\N	f	f
779032	91	G6PD	Campinas	\N	f	f
779012	91	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	\N	f	f
778994	91	G6PD	Cassano	\N	f	f
778894	91	G6PD	Chatham	\N	f	f
778794	91	G6PD	Chikugo	\N	f	f
778854	91	G6PD	Chinese-1	\N	f	f
778900	91	G6PD	Chinese-5	\N	f	f
778816	91	G6PD	Cincinnati	\N	f	f
778840	91	G6PD	Cleveland Corum	\N	f	f
778698	91	G6PD	Costanzo	\N	f	f
778958	91	G6PD	Covao do Lobo	\N	f	f
778740	91	G6PD	Crispim	\N	f	f
778810	91	G6PD	Dagua	\N	f	f
778830	91	G6PD	Durham	\N	f	f
778888	91	G6PD	Farroupilha	\N	f	f
779004	91	G6PD	Figuera da Foz	\N	f	f
779018	91	G6PD	Flores	\N	f	f
779030	91	G6PD	Fukaya	\N	f	f
778896	91	G6PD	Fushan	\N	f	f
778674	91	G6PD	Gaohe	\N	f	f
778978	91	G6PD	Georgia	\N	f	f
778804	91	G6PD	Coimbra Shunde	\N	f	f
779010	91	G6PD	Cosenza	\N	f	f
778680	91	G6PD	Gidra	\N	f	f
778936	91	G6PD	Guadalajara	\N	f	f
778726	91	G6PD	Guangzhou	\N	f	f
778852	91	G6PD	Haikou	\N	f	f
778734	91	G6PD	Hammersmith	\N	f	f
778818	91	G6PD	Harilaou	\N	f	f
778998	91	G6PD	Harima	\N	f	f
778940	91	G6PD	Hartford	\N	f	f
778710	91	G6PD	Hechi	\N	f	f
778996	91	G6PD	Hermoupolis	\N	f	f
778676	91	G6PD	Honiara	\N	f	f
778770	91	G6PD	Ilesha	\N	f	f
778890	91	G6PD	Insuli	\N	f	f
778934	91	G6PD	Iowa, Walter Reed, Springfield	\N	f	f
778908	91	G6PD	Iwatsuki	\N	f	f
778970	91	G6PD	Japan, Shinagawa	\N	f	f
779022	91	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	\N	f	f
778880	91	G6PD	Kalyan-Kerala, Jamnaga, Rohini	\N	f	f
778688	91	G6PD	Kambos	\N	f	f
779016	91	G6PD	Kamiube, Keelung	\N	f	f
778692	91	G6PD	Kamogawa	\N	f	f
778972	91	G6PD	Kawasaki	\N	f	f
778690	91	G6PD	Kozukata	\N	f	f
778944	91	G6PD	Krakow	\N	f	f
778848	91	G6PD	La Jolla	\N	f	f
778672	91	G6PD	Lages	\N	f	f
779026	91	G6PD	Laibin	\N	f	f
778842	91	G6PD	Lille	\N	f	f
778768	91	G6PD	Liuzhou	\N	f	f
778914	91	G6PD	Loma Linda	\N	f	f
778878	91	G6PD	Ludhiana	\N	f	f
778930	91	G6PD	Lynwood	\N	f	f
778932	91	G6PD	Madrid	\N	f	f
778776	91	G6PD	Mahidol	\N	f	f
778796	91	G6PD	Malaga	\N	f	f
778884	91	G6PD	Manhattan	\N	f	f
778984	91	G6PD	Mediterranean Haplotype	\N	f	f
778696	91	G6PD	Metaponto	\N	f	f
778822	91	G6PD	Mexico City	\N	f	f
778790	91	G6PD	Miaoli	\N	f	f
778814	91	G6PD	Minnesota, Marion, Gastonia, LeJeune	\N	f	f
778902	91	G6PD	Mira d'Aire	\N	f	f
778860	91	G6PD	Mizushima	\N	f	f
778868	91	G6PD	Montalbano	\N	f	f
778920	91	G6PD	Montpellier	\N	f	f
778754	91	G6PD	Mt Sinai	\N	f	f
778974	91	G6PD	Munich	\N	f	f
778718	91	G6PD	Murcia Oristano	\N	f	f
778704	91	G6PD	Musashino	\N	f	f
778716	91	G6PD	Namouru	\N	f	f
778788	91	G6PD	Nankang	\N	f	f
778828	91	G6PD	Nanning	\N	f	f
778784	91	G6PD	Naone	\N	f	f
778882	91	G6PD	Nara	\N	f	f
778948	91	G6PD	Nashville, Anaheim, Portici	\N	f	f
779024	91	G6PD	Neapolis	\N	f	f
779014	91	G6PD	Nice	\N	f	f
778808	91	G6PD	Nilgiri	\N	f	f
778668	91	G6PD	No name	\N	f	f
778824	91	G6PD	North Dallas	\N	f	f
778926	91	G6PD	Olomouc	\N	f	f
778876	91	G6PD	Omiya	\N	f	f
778684	91	G6PD	Orissa	\N	f	f
778866	91	G6PD	Osaka	\N	f	f
778694	91	G6PD	Palestrina	\N	f	f
778862	91	G6PD	Papua	\N	f	f
778904	91	G6PD	Partenope	\N	f	f
778986	91	G6PD	Pawnee	\N	f	f
778864	91	G6PD	Piotrkow	\N	f	f
778778	91	G6PD	Plymouth	\N	f	f
778942	91	G6PD	Praha	\N	f	f
778760	91	G6PD	Quing Yan	\N	f	f
778820	91	G6PD	Radlowo	\N	f	f
778886	91	G6PD	Rehevot	\N	f	f
778682	91	G6PD	Rignano	\N	f	f
778924	91	G6PD	Riley	\N	f	f
778968	91	G6PD	Riverside	\N	f	f
778838	91	G6PD	Roubaix	\N	f	f
778992	91	G6PD	S. Antioco	\N	f	f
778758	91	G6PD	Salerno Pyrgos	\N	f	f
778806	91	G6PD	Santiago	\N	f	f
778736	91	G6PD	Sao Borja	\N	f	f
778856	91	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	\N	f	f
778874	91	G6PD	Seoul	\N	f	f
778910	91	G6PD	Serres	\N	f	f
778772	91	G6PD	Shenzen	\N	f	f
778792	91	G6PD	Shinshu	\N	f	f
778812	91	G6PD	Sibari	\N	f	f
778730	91	G6PD	Sierra Leone	\N	f	f
778670	91	G6PD	Sinnai	\N	f	f
778706	91	G6PD	Songklanagarind	\N	f	f
779028	91	G6PD	Split	\N	f	f
778832	91	G6PD	Stonybrook	\N	f	f
778846	91	G6PD	Sugao	\N	f	f
778982	91	G6PD	Sumare	\N	f	f
778678	91	G6PD	Sunderland	\N	f	f
778980	91	G6PD	Surabaya	\N	f	f
778966	91	G6PD	Suwalki	\N	f	f
778720	91	G6PD	Swansea	\N	f	f
3564276	32	G6PD	Telti, Kobe	\N	f	f
778918	91	G6PD	Tenri	\N	f	f
778976	91	G6PD	Tokyo, Fukushima	\N	f	f
778782	91	G6PD	Toledo	\N	f	f
778928	91	G6PD	Tomah	\N	f	f
778912	91	G6PD	Tondela	\N	f	f
778898	91	G6PD	Torun	\N	f	f
778798	91	G6PD	Tsukui	\N	f	f
778722	91	G6PD	Ube Konan	\N	f	f
779000	91	G6PD	Union,Maewo, Chinese-2, Kalo	\N	f	f
778728	91	G6PD	Urayasu	\N	f	f
778964	91	G6PD	Utrecht	\N	f	f
778764	91	G6PD	Valladolid	\N	f	f
778732	91	G6PD	Vancouver	\N	f	f
778756	91	G6PD	Vanua Lava	\N	f	f
778870	91	G6PD	Viangchan, Jammu	\N	f	f
778892	91	G6PD	Villeurbanne	\N	f	f
778786	91	G6PD	Volendam	\N	f	f
778834	91	G6PD	Wayne	\N	f	f
778850	91	G6PD	Wexham	\N	f	f
778960	91	G6PD	Clinic	\N	f	f
3685596	30	RYR1	c.7032G>C	\N	f	f
3685598	30	RYR1	c.7035C>A	\N	f	f
3685600	30	RYR1	c.7036G>A	\N	f	f
779198	91	RYR1	c.7042_7044delGAG	\N	f	f
3685604	30	RYR1	c.7043A>G	\N	f	f
779200	91	RYR1	c.7048G>A	\N	f	f
779020	91	G6PD	Yunan	\N	f	f
3685594	30	RYR1	c.7025A>G	\N	f	f
3685608	30	RYR1	c.7060G>A	\N	f	f
3685612	30	RYR1	c.7073T>A	\N	f	f
3685614	30	RYR1	c.7076G>A	\N	f	f
3685616	30	RYR1	c.7075C>T	\N	f	f
3685618	30	RYR1	c.7084G>A	\N	f	f
3685620	30	RYR1	c.7085A>G	\N	f	f
3685622	30	RYR1	c.7089C>G	\N	f	f
3685624	30	RYR1	c.7090T>G	\N	f	f
3685626	30	RYR1	c.7097C>G	\N	f	f
3685628	30	RYR1	c.7099G>A	\N	f	f
3685630	30	RYR1	c.7112A>G	\N	f	f
3685632	30	RYR1	c.7123G>A	\N	f	f
779204	91	RYR1	c.7124G>C	\N	f	f
3685636	30	RYR1	c.7199A>G	\N	f	f
3685638	30	RYR1	c.7210G>A	\N	f	f
3685642	30	RYR1	c.7291G>A	\N	f	f
3685644	30	RYR1	c.7291G>T	\N	f	f
779208	91	RYR1	c.7300G>A	\N	f	f
779210	91	RYR1	c.7304G>A	\N	f	f
3685652	30	RYR1	c.7304G>T	\N	f	f
3685654	30	RYR1	c.7307G>A	\N	f	f
3685656	30	RYR1	c.7310C>T	\N	f	f
3685658	30	RYR1	c.7317G>C	\N	f	f
779212	91	RYR1	c.7354C>T	\N	f	f
3685662	30	RYR1	c.7355G>A	\N	f	f
3685664	30	RYR1	c.7355G>C	\N	f	f
3685666	30	RYR1	c.7358T>C	\N	f	f
779214	91	RYR1	c.7360C>T	\N	f	f
779216	91	RYR1	c.7361G>A	\N	f	f
779218	91	RYR1	c.7372C>T	\N	f	f
3685676	30	RYR1	c.7373G>T	\N	f	f
3685678	30	RYR1	c.7385C>T	\N	f	f
3685680	30	RYR1	c.7487C>T	\N	f	f
779222	91	RYR1	c.7522C>T	\N	f	f
779224	91	RYR1	c.7522C>G	\N	f	f
779226	91	RYR1	c.7523G>A	\N	f	f
3685688	30	RYR1	c.7528T>C	\N	f	f
3685690	30	RYR1	c.7760A>G	\N	f	f
3685692	30	RYR1	c.7771C>G	\N	f	f
3685696	30	RYR1	c.7777C>G	\N	f	f
3685698	30	RYR1	c.7778G>A	\N	f	f
3685700	30	RYR1	c.7787C>T	\N	f	f
3685702	30	RYR1	c.7816T>A	\N	f	f
3685706	30	RYR1	c.7879G>A	\N	f	f
3685708	30	RYR1	c.8005G>A	\N	f	f
3685710	30	RYR1	c.8026C>T	\N	f	f
3685712	30	RYR1	c.8054C>T	\N	f	f
3685714	30	RYR1	c.8188G>C	\N	f	f
3685716	30	RYR1	c.8189A>G	\N	f	f
3685718	30	RYR1	c.8198G>A	\N	f	f
3685720	30	RYR1	c.8290G>A	\N	f	f
3685722	30	RYR1	c.8327C>T	\N	f	f
3685724	30	RYR1	c.8360C>G	\N	f	f
3685728	30	RYR1	c.8527T>C	\N	f	f
3685730	30	RYR1	c.8600T>A	\N	f	f
3685732	30	RYR1	c.8638G>A	\N	f	f
3685736	30	RYR1	c.8729C>T	\N	f	f
3685738	30	RYR1	c.8926C>T	\N	f	f
3685740	30	RYR1	c.9152G>A	\N	f	f
3685742	30	RYR1	c.9268G>A	\N	f	f
779228	91	RYR1	c.9310G>A	\N	f	f
3685746	30	RYR1	c.9356G>A	\N	f	f
3685748	30	RYR1	c.9499C>T	\N	f	f
3685750	30	RYR1	c.9635A>G	\N	f	f
3685752	30	RYR1	c.9649T>C	\N	f	f
3685754	30	RYR1	c.9652G>A	\N	f	f
3685756	30	RYR1	c.9676G>C	\N	f	f
3685760	30	RYR1	c.9797T>C	\N	f	f
3685762	30	RYR1	c.9848G>A	\N	f	f
3685766	30	RYR1	c.9868G>A	\N	f	f
3685768	30	RYR1	c.10042C>T	\N	f	f
3685770	30	RYR1	c.10043G>A	\N	f	f
3685772	30	RYR1	c.10097G>A	\N	f	f
3685774	30	RYR1	c.10100A>G	\N	f	f
3685776	30	RYR1	c.10229C>A	\N	f	f
3685778	30	RYR1	c.10237A>T	\N	f	f
3685780	30	RYR1	c.10252A>G	\N	f	f
3685782	30	RYR1	c.10556C>T	\N	f	f
3685784	30	RYR1	c.10616G>A	\N	f	f
3685786	30	RYR1	c.10747G>C	\N	f	f
3685788	30	RYR1	c.10750G>C	\N	f	f
3685792	30	RYR1	c.11086G>C	\N	f	f
3685796	30	RYR1	c.11126C>T	\N	f	f
3685798	30	RYR1	c.11132C>T	\N	f	f
3685800	30	RYR1	c.11266C>G	\N	f	f
3685802	30	RYR1	c.11315G>A	\N	f	f
3685804	30	RYR1	c.11314C>T	\N	f	f
3685806	30	RYR1	c.11416G>A	\N	f	f
3685808	30	RYR1	c.11518G>A	\N	f	f
3685810	30	RYR1	c.11708G>A	\N	f	f
3685812	30	RYR1	c.11723A>T	\N	f	f
3685814	30	RYR1	c.11748T>G	\N	f	f
3685816	30	RYR1	c.11798A>G	\N	f	f
3685818	30	RYR1	c.11813G>A	\N	f	f
3685820	30	RYR1	c.11947C>T	\N	f	f
779230	91	RYR1	c.11969G>T	\N	f	f
3685828	30	RYR1	c.12028G>A	\N	f	f
3685830	30	RYR1	c.12064A>G	\N	f	f
3685832	30	RYR1	c.12115A>T	\N	f	f
3685834	30	RYR1	c.12121C>T	\N	f	f
3685836	30	RYR1	c.12149C>A	\N	f	f
3685838	30	RYR1	c.12242C>T	\N	f	f
3685840	30	RYR1	c.12310G>C	\N	f	f
3685842	30	RYR1	c.12355A>T	\N	f	f
3685844	30	RYR1	c.12383C>T	\N	f	f
3685846	30	RYR1	c.12398A>G	\N	f	f
3685848	30	RYR1	c.12406C>A	\N	f	f
3685850	30	RYR1	c.12413T>C	\N	f	f
3685852	30	RYR1	c.12532G>A	\N	f	f
3685858	30	RYR1	c.12689T>G	\N	f	f
3685860	30	RYR1	c.12700G>C	\N	f	f
3685862	30	RYR1	c.12700G>T	\N	f	f
3685864	30	RYR1	c.12848A>T	\N	f	f
3685866	30	RYR1	c.12881C>T	\N	f	f
3685868	30	RYR1	c.12884C>T	\N	f	f
3685870	30	RYR1	c.13505A>G	\N	f	f
3685872	30	RYR1	c.13513G>C	\N	f	f
778946	91	G6PD	Wisconsin	\N	f	f
\.


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

COPY cpic.allele_frequency (alleleid, population, frequency, label, version) FROM stdin;
1508725	6468614	0.926	0.9260	1
1508727	6468614	0.074	0.0740	1
1508725	6468615	0.99	0.9900	1
1508727	6468615	0.01	0.0100	1
1508725	6468616	0.8	0.8000	1
1508727	6468616	0.2	0.2000	1
1508725	6468617	0.9068	0.9068	1
1508727	6468617	0.0932	0.0932	1
1508725	6468618	0.6929	0.6929	1
1508727	6468618	0.3071	0.3071	1
1508725	6468619	0.8964	0.8964	1
1508727	6468619	0.1036	0.1036	1
1508725	6468620	0.7756	0.7756	1
1508727	6468620	0.2244	0.2244	1
1508725	6468621	0.9347	0.9347	1
1508727	6468621	0.0653	0.0653	1
1508725	6468622	0.903	0.9030	1
1508727	6468622	0.097	0.0970	1
1508725	6468623	0.893	0.8930	1
1508727	6468623	0.107	0.1070	1
1508725	6468624	0.798	0.7980	1
1508727	6468624	0.202	0.2020	1
1508725	6468625	0.561	0.5610	1
1508727	6468625	0.439	0.4390	1
1508725	6468626	1	1.0000	1
1508727	6468626	0	0.0	1
1508725	6468627	1	1.0000	1
1508727	6468627	0	0.0	1
1508725	6468628	0.987	0.9870	1
1508727	6468628	0.013	0.0130	1
1508725	6468629	0.982	0.9820	1
1508727	6468629	0.018	0.0180	1
1508725	6468630	1	1.0000	1
1508727	6468630	0	0.0	1
777265	6468631	0.00003267	3.267E-5	1
777267	6468631	\N	\N	1
777265	6468632	\N	\N	1
777267	6468632	0	0.0	1
777265	6468633	0.0001087	1.087E-4	1
777267	6468633	0	0.0	1
777265	6468634	0.00001759	1.759E-5	1
777267	6468634	\N	\N	1
777265	6468635	0	0.0	1
777267	6468635	\N	\N	1
777265	6468636	\N	\N	1
777267	6468636	0	0.0	1
777265	6468637	\N	\N	1
777267	6468637	0	0.0	1
777265	6468638	0.00005783	5.783E-5	1
777267	6468638	\N	\N	1
777265	6468639	\N	\N	1
777267	6468639	0.00002891	2.891E-5	1
777265	6468640	0	0.0	1
777267	6468640	\N	\N	1
777265	6468641	\N	\N	1
777267	6468641	0	0.0	1
778233	6469963	\N	\N	1
777425	6468642	\N	\N	1
777427	6468642	0	0.0	1
777429	6468642	\N	\N	1
777431	6468642	\N	\N	1
777433	6468642	\N	\N	1
777435	6468642	\N	\N	1
777437	6468642	\N	\N	1
777439	6468642	\N	\N	1
777441	6468642	\N	\N	1
777443	6468642	\N	\N	1
777445	6468642	\N	\N	1
777447	6468642	\N	\N	1
777449	6468642	\N	\N	1
777451	6468642	\N	\N	1
777453	6468642	\N	\N	1
777455	6468642	\N	\N	1
777457	6468642	\N	\N	1
777459	6468642	\N	\N	1
777461	6468642	\N	\N	1
777463	6468642	\N	\N	1
777465	6468642	\N	\N	1
777467	6468642	\N	\N	1
777469	6468642	\N	\N	1
777471	6468642	\N	\N	1
777473	6468642	\N	\N	1
777475	6468642	\N	\N	1
777477	6468642	\N	\N	1
777479	6468642	\N	\N	1
777481	6468642	\N	\N	1
777483	6468642	\N	\N	1
777485	6468642	\N	\N	1
777487	6468642	\N	\N	1
777489	6468642	\N	\N	1
777491	6468642	\N	\N	1
777493	6468642	\N	\N	1
777495	6468642	\N	\N	1
777425	6468643	\N	\N	1
777427	6468643	\N	\N	1
777429	6468643	\N	\N	1
777431	6468643	\N	\N	1
777433	6468643	0.35	0.35	1
777435	6468643	\N	\N	1
777437	6468643	\N	\N	1
777439	6468643	\N	\N	1
777441	6468643	\N	\N	1
777443	6468643	\N	\N	1
777445	6468643	\N	\N	1
777447	6468643	\N	\N	1
777449	6468643	\N	\N	1
777451	6468643	\N	\N	1
777453	6468643	\N	\N	1
777455	6468643	0.04	0.04	1
777457	6468643	\N	\N	1
777459	6468643	\N	\N	1
777461	6468643	\N	\N	1
777463	6468643	\N	\N	1
777465	6468643	\N	\N	1
777467	6468643	\N	\N	1
777469	6468643	\N	\N	1
777471	6468643	\N	\N	1
777473	6468643	\N	\N	1
777475	6468643	\N	\N	1
777477	6468643	\N	\N	1
777479	6468643	\N	\N	1
777481	6468643	\N	\N	1
777483	6468643	\N	\N	1
777485	6468643	\N	\N	1
777487	6468643	\N	\N	1
777489	6468643	\N	\N	1
777491	6468643	\N	\N	1
777493	6468643	\N	\N	1
777495	6468643	\N	\N	1
777425	6468644	\N	\N	1
777427	6468644	\N	\N	1
777429	6468644	\N	\N	1
777431	6468644	\N	\N	1
777433	6468644	\N	\N	1
777435	6468644	\N	\N	1
777437	6468644	\N	\N	1
777439	6468644	\N	\N	1
777441	6468644	\N	\N	1
777443	6468644	0.003	0.003	1
777445	6468644	\N	\N	1
777447	6468644	\N	\N	1
777449	6468644	\N	\N	1
777451	6468644	\N	\N	1
777453	6468644	\N	\N	1
777455	6468644	\N	\N	1
777457	6468644	\N	\N	1
777459	6468644	\N	\N	1
777461	6468644	\N	\N	1
777463	6468644	\N	\N	1
777465	6468644	\N	\N	1
777467	6468644	\N	\N	1
777469	6468644	\N	\N	1
777471	6468644	\N	\N	1
777473	6468644	\N	\N	1
777475	6468644	\N	\N	1
777477	6468644	\N	\N	1
777479	6468644	\N	\N	1
777481	6468644	\N	\N	1
777483	6468644	\N	\N	1
777485	6468644	\N	\N	1
777487	6468644	\N	\N	1
777489	6468644	\N	\N	1
777491	6468644	\N	\N	1
777493	6468644	\N	\N	1
777495	6468644	\N	\N	1
777425	6468645	0.043	0.043	1
777427	6468645	0	0.0	1
777429	6468645	0	0.0	1
777431	6468645	0.086	0.086	1
777433	6468645	0.328	0.328	1
777435	6468645	0	0.0	1
777423	6468643	0.61	0.61	2
777423	6468644	0.997	0.997	2
777437	6468645	0	0.0	1
777439	6468645	0	0.0	1
777441	6468645	\N	\N	1
777443	6468645	\N	\N	1
777445	6468645	\N	\N	1
777447	6468645	\N	\N	1
777449	6468645	\N	\N	1
777451	6468645	\N	\N	1
777453	6468645	0.071	0.071	1
777455	6468645	0.029	0.029	1
777457	6468645	0	0.0	1
777459	6468645	0	0.0	1
777461	6468645	0	0.0	1
777463	6468645	0.011	0.011	1
777465	6468645	\N	\N	1
777467	6468645	\N	\N	1
777469	6468645	\N	\N	1
777471	6468645	\N	\N	1
777473	6468645	\N	\N	1
777475	6468645	\N	\N	1
777477	6468645	\N	\N	1
777479	6468645	\N	\N	1
777481	6468645	\N	\N	1
777483	6468645	\N	\N	1
777485	6468645	\N	\N	1
777487	6468645	\N	\N	1
777489	6468645	\N	\N	1
777491	6468645	\N	\N	1
777493	6468645	\N	\N	1
777495	6468645	\N	\N	1
778235	6469963	\N	\N	1
777425	6468646	0	0.0	1
777427	6468646	\N	\N	1
777429	6468646	0.037	0.037	1
777431	6468646	0	0.0	1
777433	6468646	0.259	0.259	1
777435	6468646	0	0.0	1
777437	6468646	\N	\N	1
777439	6468646	0.167	0.167	1
777441	6468646	\N	\N	1
777443	6468646	\N	\N	1
777445	6468646	\N	\N	1
777447	6468646	\N	\N	1
777449	6468646	\N	\N	1
777451	6468646	\N	\N	1
777453	6468646	\N	\N	1
777455	6468646	0.037	0.037	1
777457	6468646	\N	\N	1
777459	6468646	\N	\N	1
777461	6468646	\N	\N	1
777463	6468646	\N	\N	1
777465	6468646	\N	\N	1
777467	6468646	\N	\N	1
777469	6468646	\N	\N	1
777471	6468646	\N	\N	1
777473	6468646	\N	\N	1
777475	6468646	\N	\N	1
777477	6468646	\N	\N	1
777479	6468646	\N	\N	1
777481	6468646	\N	\N	1
777483	6468646	\N	\N	1
777485	6468646	\N	\N	1
777487	6468646	\N	\N	1
777489	6468646	\N	\N	1
777491	6468646	\N	\N	1
777493	6468646	\N	\N	1
777495	6468646	\N	\N	1
777425	6468647	\N	\N	1
777427	6468647	0.008	0.008	1
777429	6468647	\N	\N	1
777431	6468647	\N	\N	1
777433	6468647	\N	\N	1
777435	6468647	\N	\N	1
777437	6468647	\N	\N	1
777439	6468647	\N	\N	1
777441	6468647	\N	\N	1
777443	6468647	0	0.0	1
777445	6468647	0	0.0	1
777447	6468647	\N	\N	1
777449	6468647	0	0.0	1
777451	6468647	0	0.0	1
777453	6468647	\N	\N	1
777455	6468647	\N	\N	1
777457	6468647	\N	\N	1
777459	6468647	\N	\N	1
777461	6468647	\N	\N	1
777463	6468647	\N	\N	1
777465	6468647	0	0.0	1
777467	6468647	\N	\N	1
777469	6468647	\N	\N	1
777471	6468647	\N	\N	1
777473	6468647	\N	\N	1
777475	6468647	\N	\N	1
777477	6468647	\N	\N	1
777479	6468647	\N	\N	1
777481	6468647	\N	\N	1
777483	6468647	\N	\N	1
777485	6468647	\N	\N	1
777487	6468647	\N	\N	1
777489	6468647	\N	\N	1
777491	6468647	\N	\N	1
777493	6468647	\N	\N	1
777495	6468647	\N	\N	1
777425	6468648	\N	\N	1
777427	6468648	0	0.0	1
777429	6468648	\N	\N	1
777431	6468648	\N	\N	1
777433	6468648	\N	\N	1
777435	6468648	\N	\N	1
777437	6468648	\N	\N	1
777439	6468648	\N	\N	1
777441	6468648	\N	\N	1
777443	6468648	0	0.0	1
777445	6468648	0	0.0	1
777447	6468648	\N	\N	1
777449	6468648	0	0.0	1
777451	6468648	0	0.0	1
777453	6468648	\N	\N	1
777455	6468648	\N	\N	1
777457	6468648	\N	\N	1
777459	6468648	\N	\N	1
777461	6468648	\N	\N	1
777463	6468648	\N	\N	1
777465	6468648	0.005	0.005	1
777467	6468648	\N	\N	1
777469	6468648	\N	\N	1
777471	6468648	\N	\N	1
777473	6468648	\N	\N	1
777475	6468648	\N	\N	1
777477	6468648	\N	\N	1
777479	6468648	\N	\N	1
777481	6468648	\N	\N	1
777483	6468648	\N	\N	1
777485	6468648	\N	\N	1
777487	6468648	\N	\N	1
777489	6468648	\N	\N	1
777491	6468648	\N	\N	1
777493	6468648	\N	\N	1
777495	6468648	\N	\N	1
777425	6468649	\N	\N	1
777427	6468649	0	0.0	1
777429	6468649	\N	\N	1
777431	6468649	\N	\N	1
777433	6468649	\N	\N	1
777435	6468649	\N	\N	1
777437	6468649	\N	\N	1
777439	6468649	\N	\N	1
777441	6468649	\N	\N	1
777443	6468649	0	0.0	1
777445	6468649	0	0.0	1
777447	6468649	\N	\N	1
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