Table 4. SNPs identified in MMe cell lines.

Gene	Exon	Region	Nucleotide change	Amino acid change	dbSNP ID	SIFT	PolyPhen2	Cell line
GLI1	5	Coding	576 G>A	E192E	rs2228225	Tolerated	Benign	JU77, LO68, NO36, STY51
GLI1	11	Coding	2798 G>A	G933D	rs2228224	Tolerated	Damaging	JU77, LO68, NO36, STY51
GLI1	11	Coding	3298 G>C	E1100Q	rs2228226	Tolerated	Benign	JU77, LO68, NO36, STY51
GLI2	5	Coding	801 G>A	S267S	rs2592595	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
GLI2	13	Coding	3466 G>T	A1156S	rs3738880	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
GLI2	13	Coding	3916 G>A	D1306N	rs12711538	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
GLI2	13	Coding	3939 A>G	P1313P	rs10167980	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
GLI3	4	Coding	547 A>G	T183A	rs846266	Tolerated	Benign	MSTO-211H, NCI-H28, LO68, ONE58, STY51
GLI3	14	Coding	2993 C>T	P998L	rs929387	Tolerated	Benign	JU77, NO36, ONE58
HHIP	13	Coding	2058 T>C	I686I	rs11727676	Tolerated	Benign	MSTO-211H, NCI-H28
IHH	3	Coding	600 G>A	T200T	rs3731878	Tolerated	Benign	STY51
IHH	3	Coding	753 T>C	P251P	rs3731881	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, ONE58
IHH	3	Coding	1128 T>C	T376T	rs394452	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, ONE58, STY51
KIF7	1	Coding	154 G>A	D52N	rs8179065	Tolerated	Benign	MSTO-211H, NCI-H28, LO68
KIF7	1	Coding	195 G>C	A65A	rs8179066	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
KIF7	4	Coding	1102 A>G	T368A	rs8037349	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
KIF7	11	Coding	2501 A>G	Q834R	rs138354681	Tolerated	Damaging	ONE58
KIF7	12	Coding	2658 A>C	A886A	rs3803531	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
KIF7	13	Coding	2873 G>T	S958I	rs3803530	Tolerated	Benign
KIF7	14	Coding	3013 G>A	G1005R	rs12900805	Tolerated	Benign	JU77, ONE58, STY51
KIF7	14	Coding	3048 G>A	S1016S	rs9672286	Tolerated	Benign	JU77, ONE58, STY51
PTCH1	23	Coding	3944 C>T	P1315L	rs357564	Tolerated	Damaging	MSTO-211H, NCI-H28, ONE58, STY51
PTCH2	2	Coding	90 G>A	L30L	rs45573433	Tolerated	Benign	MSTO-211H, NCI-H28
PTCH2	8	Coding	1080 G>T	V360V	rs11573579	Tolerated	Benign	LO68
PTCH2	14	Coding	1821 A>G	E607E	rs2295997	Tolerated	Benign	NO36
PTCH2	14	Coding	2055 T>C	A685A	rs7525308	Tolerated	Benign	JU77, NO36
PTCH2	16	Coding	2487 C>T	D829D	rs2295996	Tolerated	Benign	JU77
SMO	1	Coding	74 A>G	D25G	rs41304185	Tolerated	Unknown	MSTO-211H, NCI-H28, LO68, NO36
SMO	2	Coding	384 C>T	A128A	rs45571737	Tolerated	Benign	MSTO-211H
SMO	4	Coding	808 G>A	V270I	rs111694017	Tolerated	Benign	LO68
SMO	4	Coding	852 G>A	Q284Q	rs45445295	Tolerated	Benign	ONE58
SMO	6	Coding	1164 G>C	G388G	rs2228617	Tolerated	Benign	MSTO-211H, NCI-H28, JU77, LO68, NO36, ONE58, STY51
STK36	13	Coding	1748 G>A	R583Q	rs1344642	Tolerated	Damaging	JU77
STK36	24	Coding	3008 G>A	G1003D	rs1863704	Tolerated	Damaging	JU77
SUFU	11	Coding	1299 T>C	I433I	rs17114803	Tolerated	Benign	NO36