Table 1 Clinical details and NRAS c.182 A>G, p.Q61R variant status of participants with KLA

Patient ID	Age^a	Sex	Sites of involvement	Outcome	NRAS c.182 A > G, p.Q61R variant	Lesional exome^b	Uninvolved exome^b	Lesional dPCR^c,d
KLA1	7 years	M	Mediastinum, pericardial and pleural effusions, spleen, skin, extremity, bone	Deceased	Positive	4% (3/83)	0% (0/155)	1.3% (45/3494)
KLA2	3 years	F	Chest, spleen, skin, mesentery, buttocks, thigh, bone	Deceased	Negative	0% (0/452)	0% (0/231)	0% (0/6181)
KLA3	13 years	M	Mediastinum, lung	Deceased	Positive	3% (16/490)	0% (0/195)	7.1% (397/5648)
KLA4	1 year	M	Mediastinum, pericardial and pleural effusions, spleen, liver, bone	Deceased	Positive	14% (26/188)	–	14.0% (1414/10,067)
KLA5	4.5 years	M	Mediastinum, pericardial effusions, lung	Deceased	Positive	5% (6/120)	–	28% (3123/11,052)
KLA6	9 years	F	Skin, pelvis, perineum, thigh, bone	Alive	Positive	–	–	8.4% (532/6322)
KLA7	4 years	M	Chest, lung, pericardial and pleural effusions, spleen, bone	Alive	Positive	–	–	1.8% (83/4694)
KLA8	8 years	F	Mediastinum, lung, pleural effusions, retroperitoneum, bone	Alive	Positive	–	–	6.3% (224/3567)
KLA9	6 years	M	Lung, mediastinum, spleen	Alive	Positive	–	–	1.3% (76/5941)
KLA10	12 years	F	Mediastinum, lung, pericardial effusion, retroperitoneum	Alive	Positive	–	–	11.9% (750/6258)
KLA11	30 years	F	Mediastinum, mesentery, liver, retroperitoneum, rhomboid muscle	Alive	Positive	–	–	5%^e

dPCR digital polymerase chain reaction, F female, KLA kaposiform lymphangiomatosis, M male.
^aAge at diagnosis of KLA.
^bExome sequencing results reported as percent of variant reads of total reads, followed by numbers of reads.
^cdPCR results reported as percent of wells amplifying variant allele of total wells with amplification, followed by numbers of wells.
^dFor participants 1–5, dPCR analysis was performed on independent lesional tissue samples from those used for exome analysis, and variation between exome and dPCR variant allele frequencies are expected due to variations in the numbers of lesional cells.
^eValidation in KLA11 was performed by targeted high-throughput sequencing, and the NRAS c.182A>G variant was detected at low allele frequency at the level of sensitivity of the assay (5%).

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