Table 1.

Deep amplicon results from 13 subclinical cases

Sample ID	Mutation in ARMS-PCR screening	Genomic coordinates	Deep sequencing somatic variant result	Percent of mutant variant reads	Percent of next “noise” variant read	Coverage	Diagnosis
UPN92	D661Y	chrl7:40474420	Positive	1.8	0.002	2318	MDS
UPN10	D661Y	chrl7:40474420	Positive	13.2	0.002	5271	MDS
UPN28	DG61Y	chrl7:40474420	Positive	0.5	0.01	2585	AA
UPN11	D661Y	chrl7:40474419	Positive	5.4	0.01	7413	MDS
UPN2	D661Y	chrl7:40474420	Positive	0.9	0.002	17 200	AA
UPN1	Y640F	chrl7:40474482	Positive	1.7	0.003	9032	AA
UPN3	Y640F	chr17:40474482	Positive	0.3	0.0004	2352	AA
UPN22	Y640F	chrl7:40474482	Negative	0.00008	0.003	12 306	MDS
UPN52	D661Y	chrl7:40474420	Negative	0.6	1.3	14 680	MDS
UPN57	Y640F	chrl7:40474482	Negative	0	0	1335	AA
UPN72	Y640F	chrl7:404744S2	Negative	0	0.002	17 562	AA
UPN60	D661Y	chrl7:40474420	Negative	0.6	1.4	23 012	AA
UPN32	D661Y	chrl7:40474420	Negative	0.6	1.4	5620	AA

Six cases were considered ARMS-PCR false positives because either no variant reads were found or the number of reads was under the set detection threshold as defined by the noise level (multiple bases calls). The percentage of next “noise” variant reads corresponds to the base calls considered background errors (different from the reference or the known somatic mutated variant). Coverage indicates the numbers of reads generated in every case.