PharmCAT v3.1.1-7-g1b371646
Gene	Source Diplotype	Phenotype	Activity Score	Haplotype 1	Haplotype 1 Function	Haplotype 1 Activity Value	Haplotype 2	Haplotype 2 Function	Haplotype 2 Activity Value	Outside Call	Match Score	Missing positions	Recommendation Lookup Diplotype	Recommendation Lookup Phenotype	Recommendation Lookup Activity Score
RYR1	Reference/Reference	Uncertain Susceptibility		Reference	Normal function		Reference	Normal function		no	626	no	Reference/Reference	Uncertain Susceptibility	
VKORC1	rs9923231 reference (C)/rs9923231 reference (C)	-1639 GG		rs9923231 reference (C)	Normal coumarin sensitivity		rs9923231 reference (C)	Normal coumarin sensitivity		no	2	no	rs9923231 reference (C)/rs9923231 reference (C)	-1639 GG	
G6PD	B (reference)/B (reference)	Normal		B (reference)	IV/Normal		B (reference)	IV/Normal		no	342	no	B (reference)/B (reference)	Normal	
TPMT	*1/*1	Normal Metabolizer		*1	Normal function		*1	Normal function		no	90	no	*1/*1	Normal Metabolizer	
UGT1A1	*1/*1	Normal Metabolizer		*1	Normal function		*1	Normal function		no	8	no	*1/*1	Normal Metabolizer	
CYP4F2	*1/*1			*1	null		*1	null		no	40	no	*1/*1		
CYP2C19	*2/*2	Poor Metabolizer		*2	No function		*2	No function		no	6	no	*2/*2	Poor Metabolizer	
CYP3A4	*1/*1	Normal Metabolizer		*1	Normal function		*1	Normal function		no	86	no	*1/*1	Normal Metabolizer	
CYP3A5	*1/*1	Normal Metabolizer		*1	Normal function		*1	Normal function		no	10	no	*1/*1	Normal Metabolizer	
CYP2C9	*1/*1	Normal Metabolizer	2.0	*1	Normal function	1.0	*1	Normal function	1.0	no	166	no	*1/*1	Normal Metabolizer	2.0
SLCO1B1	*1/*1	Normal Function		*1	Normal function		*1	Normal function		no	70	no	*1/*1	Normal Function	
CYP2B6	*1/*6	Intermediate Metabolizer		*1	Normal function		*6	Decreased function		no	50	no	*1/*6	Intermediate Metabolizer	
NAT2	*1/*1	Rapid Metabolizer		*1	Increased function		*1	Increased function		no	94	no	*1/*1	Rapid Metabolizer	
DPYD	Reference/Reference	Normal Metabolizer	2.0	Reference	Normal function	1.0	Reference	Normal function	1.0	no	166	no	Reference/Reference	Normal Metabolizer	2.0
CACNA1S	Reference/Reference	Uncertain Susceptibility		Reference	Normal function		Reference	Normal function		no	4	no	Reference/Reference	Uncertain Susceptibility	
NUDT15	*1/*1	Normal Metabolizer		*1	Normal function		*1	Normal function		no	36	no	*1/*1	Normal Metabolizer	
IFNL3	rs12979860 reference (C)/rs12979860 reference (C)	 		rs12979860 reference (C)	Favorable response allele		rs12979860 reference (C)	Favorable response allele		no	2	no	rs12979860 reference (C)/rs12979860 reference (C)	 	
CFTR	ivacaftor non-responsive CFTR sequence/ivacaftor non-responsive CFTR sequence	ivacaftor non-responsive in CF patients		ivacaftor non-responsive CFTR sequence	ivacaftor non-responsive		ivacaftor non-responsive CFTR sequence	ivacaftor non-responsive		no	186	no	ivacaftor non-responsive CFTR sequence/ivacaftor non-responsive CFTR sequence	ivacaftor non-responsive in CF patients	
ABCG2	rs2231142 reference (G)/rs2231142 reference (G)	Normal Function		rs2231142 reference (G)	Normal function		rs2231142 reference (G)	Normal function		no	2	no	rs2231142 reference (G)/rs2231142 reference (G)	Normal Function	
F2	rs1799963 reference (G)/rs1799963 reference (G)	 		rs1799963 reference (G)	Prothrombin 20210A negative		rs1799963 reference (G)	Prothrombin 20210A negative		no	2	no			
F5	rs6025 reference (C)/rs6025 reference (C)	 		rs6025 reference (C)	Factor V Leiden negative		rs6025 reference (C)	Factor V Leiden negative		no	2	no