Overall Description

Article Data information:
- Descriptive information about exomic analysis of the 12 patients with Syndromic Skin HS disorder: PASH, PAPASH and PASH/SAPHO.

Table S1:

Table S1: Distribution of variants from Exome of 12 Syndromic Patients.

ID	group	All	ExonVar	FuncVar	ImpactVar	Rare
HSM1	PAPASH	108273	32524	388	4057	3519
HSM15	PAPASH	135741	34769	406	4013	4497
HSM16	PASH	138262	34926	387	4054	4629
HSM17	SAPHO	125739	33749	375	3931	5402
HSM2	PASH	93227	30981	386	3971	2782
HSM22	SAPHO	126755	32760	383	3893	4537
HSM23	SAPHO	136537	34530	378	4103	4936
HSM24	PASH	134019	34394	382	4155	4621
HSM25	PAPASH	131857	34661	390	4068	4714
HSM3	PASH	98429	31540	388	3982	3156
HSM4	PASH	94473	31321	341	3947	2901
HSM5	PASH	99191	31294	342	3817	2786

FunctVar: Functional variant;
ImpactVar: Variants with a prediction impact higher than 1 or CADD >=15.

Table S2

Table S2: Distribution of variants from Exome of PASH, PAPASH and PASH/SAPHO groups of patients.

	All	ExonVar	FuncVar	ImpactVar	Rare
papash	131857	34661.0	390	4057.0	4497.0
pash	98810	31430.5	384	3976.5	3028.5
sapho	126755	33749.0	378	3931.0	4936.0

Figure S1

Figure S1: Distribution of variant location from Exome Report in 12 Syndromic patients.

Figure S2

Figure S2: Distribution of variant location on groups PASH, PAPASH and PASH/SAPHO.

Figure S3

Figure S3: Distribution of variant function from Exome Report in 12 Syndromic patients.

Figure S4

Figure S4: Distribution of variant function on groups PASH, PAPASH and PASH/SAPHO.

Table S5:

Then, we considered the genes in which variants were present

Table S5: Distribution of genes carrying variants of 12 patients with Syndromic Skin HS disorder: PASH, PAPASH and PASH/SAPHO.

	Included	Exonic	Functional	Impact	rare
papash	17350	12296	285	2760	2681
pash	16222	11690	269	2704	1870
sapho	17142	12185	263	2718	2825

Table S6:

Table S6: Distribution of genes carrying variants of PASH, PAPASH and PASH/SAPHO groups.

	All	ExonVar	FuncVar	ImpactVar	Rare	NA	NA	NA	NA	NA	NA	NA
papash	17350	84	4009	12296	285	2760	325	817	4	2681	24	10803
pash	16222	86	3111	11690	269	2704	324	796	2	1870	28	9861
sapho	17142	95	3783	12185	263	2718	347	823	9	2825	97	10975

Table S7.1:

Table S7.1: List of 40 genes carrying at least one FunctVar in papash group

Table S7.2:

Table S7.2: List of 7 genes carrying at least one FunctVar in pash group

Table S7.3:

Table S7.3: List of 34 genes carrying at least one FunctVar in sapho group

Table S8.1:

Table S8.1: List of 40 genes carrying at least one ImpactVar in papash group

Table S8.2:

Table S8.2: List of 7 genes carrying at least one ImpactVar in pash group

Table S8.3:

Table S8.3: List of 34 genes carrying at least one ImpactVar in sapho group