PMID: 37121942

Integrative multi-omics and drug-response characterization of patient-derived prostate cancer primary cells.

Signal transduction and targeted therapy

Wang, Ziruoyu Z, Li, Yanan Y, Zhao, Wensi W, Jiang, Shuai S, Huang, Yuqi Y, Hou, Jun J, Zhang, Xuelu X, Zhai, Zhaoyu Z, Yang, Chen C, Wang, Jiaqi J, Zhu, Jiying J, Pan, Jianbo J, Jiang, Wei W, Li, Zengxia Z, Ye, Mingliang M, Tan, Minjia M, Jiang, Haowen H, Dang, Yongjun Y

2023-05-01

1769 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
4-151504190-C-A	MAB21L2	c.9C>A	p.A3=	Synonymous	1/1	-
4-151504190-C-G	MAB21L2	c.9C>G	p.A3=	Synonymous	1/1	-
4-151504190-C-T	MAB21L2	c.9C>T	p.A3=	Synonymous	1/1	-
7-103179594-C-T	RELN	c.7111G>A	p.A2371T	Missense	45/65	-
1-248367015-G-A	OR2M3	c.646G>A	p.A216T	Missense	2/2	-
12-52680993-C-T	KRT81	c.1140G>A	p.Q380=	Synonymous	7/9	-
7-151882655-T-C	KMT2C	c.5070A>G	p.R1690=	Synonymous	34/59	-
14-103802387-C-A	EIF5	c.87C>A	p.G29=	Synonymous	4/12	-
11-62677592-C-G	CHRM1	c.981G>C	p.K327N	Missense	2/2	-
11-62677592-C-A	CHRM1	c.981G>T	p.K327N	Missense	2/2	-
19-8530330-C-T	HNRNPM	c.561C>T	p.P187=	Synonymous	6/16	-
8-95522782-G-A	VIRMA	c.3489C>T	p.R1163=	Synonymous	14/24	-
17-45682809-C-T	NPEPPS	c.1986C>T	p.L662=	Synonymous	17/23	-
18-33257582-T-C	GALNT1	c.342T>C	p.N114=	Synonymous	4/12	-
2-65318174-G-A	RAB1A	c.231C>T	p.T77=	Synonymous	4/6	-
3-23932034-T-C	UBE2E1	c.519T>C	p.Y173=	Synonymous	6/6	-
12-6692377-G-T	CHD4	c.4047C>A	p.S1349=	Synonymous	26/40	-
19-36128121-C-A	RBM42	c.1197C>A	p.R399=	Synonymous	9/10	-
17-63052493-C-G	GNA13	c.219G>C	p.G73=	Synonymous	1/4	-
1-16719765-G-A	SZRD1	c.144G>A	p.Q48=	Synonymous	3/4	-
19-3452652-G-A	NFIC	c.1257G>A	p.Q419=	Synonymous	8/11	-
18-48584591-G-C	SMAD4	c.764G>C	p.G255A	Missense	6/12	-
9-20414280-G-A	MLLT3	c.564C>T	p.S188=	Synonymous	5/11	-
20-2774852-C-A	CPXM1	c.2189G>T	p.R730M	Missense	14/14	-
7-45726195-C-T	ADCY1	c.2377C>T	p.L793F	Missense	14/20	-
4-5894692-G-A	CRMP1	c.5C>T	p.A2V	Missense	1/14	-
1-17592187-G-A	PADI3	c.380G>A	p.G127E	Missense	4/16	-
5-140962857-C-A	DIAPH1	c.536G>T	p.W179L	Missense	6/28	-
11-64329558-G-A	SLC22A11	c.580G>A	p.V194I	Missense	3/10	-
1-228645991-G-A	H2BU1	c.161G>A	p.G54D	Missense	1/1	-
4-101947155-C-A	PPP3CA	c.1433G>T	p.R478L	Missense	14/14	-
1-161495338-C-A	HSPA6	c.890C>A	p.T297K	Missense	1/1	-
14-24610441-C-T	EMC9	c.73G>A	p.A25T	Missense	2/6	-
3-123471321-C-A	MYLK	c.230G>T	p.G77V	Missense	5/34	-
12-1943842-C-G	LRTM2	c.1068C>G	p.P356=	Synonymous	5/5	-
12-1943842-C-A	LRTM2	c.1068C>A	p.P356=	Synonymous	5/5	-
7-124405019-C-A	GPR37	c.12G>T	p.P4=	Synonymous	1/2	-
7-124405019-C-T	GPR37	c.12G>A	p.P4=	Synonymous	1/2	-
7-124405019-C-G	GPR37	c.12G>C	p.P4=	Synonymous	1/2	-
5-140725277-G-A	PCDHGA3	c.1677G>A	p.A559=	Synonymous	1/4	-
X-153692803-C-A	PLXNA3	c.1887C>A	p.A629=	Synonymous	9/33	-
X-153692803-C-G	PLXNA3	c.1887C>G	p.A629=	Synonymous	9/33	-
X-153692803-C-T	PLXNA3	c.1887C>T	p.A629=	Synonymous	9/33	-
5-140725277-G-C	PCDHGA3	c.1677G>C	p.A559=	Synonymous	1/4	-
5-140725277-G-T	PCDHGA3	c.1677G>T	p.A559=	Synonymous	1/4	-
9-8485281-G-C	PTPRD	c.3099C>G	p.S1033=	Synonymous	29/46	-
17-47583911-G-A	NGFR	c.459G>A	p.T153=	Synonymous	3/6	-
17-47583911-G-T	NGFR	c.459G>T	p.T153=	Synonymous	3/6	-
17-47583911-G-C	NGFR	c.459G>C	p.T153=	Synonymous	3/6	-
11-6462161-C-A	HPX	c.33G>T	p.L11=	Synonymous	1/10	-
11-6462161-C-T	HPX	c.33G>A	p.L11=	Synonymous	1/10	-
11-6462161-C-G	HPX	c.33G>C	p.L11=	Synonymous	1/10	-
11-6462163-G-A	HPX	c.31C>T	p.L11=	Synonymous	1/10	-
9-8485281-G-A	PTPRD	c.3099C>T	p.S1033=	Synonymous	29/46	-
9-8485281-G-T	PTPRD	c.3099C>A	p.S1033=	Synonymous	29/46	-
3-128516861-T-A	RAB7A	c.129T>A	p.A43=	Synonymous	3/6	-
3-133583452-G-A	RAB6B	c.105C>T	p.Y35=	Synonymous	2/8	-
3-128516861-T-C	RAB7A	c.129T>C	p.A43=	Synonymous	3/6	-
3-128516861-T-G	RAB7A	c.129T>G	p.A43=	Synonymous	3/6	-
13-25367325-C-T	RNF17	c.1081C>T	p.P361S	Missense	10/36	-
7-149129508-G-A	ZNF777	c.1855C>T	p.P619S	Missense	6/6	-
8-11996034-C-T	USP17L2	c.236G>A	p.G79E	Missense	1/1	-
1-91405171-G-A	ZNF644	c.1740C>T	p.S580=	Synonymous	3/6	-
19-7585312-G-T	ZNF358	c.1184G>T	p.R395L	Missense	2/2	-
1-91405171-G-C	ZNF644	c.1740C>G	p.S580=	Synonymous	3/6	-
1-91405171-G-T	ZNF644	c.1740C>A	p.S580=	Synonymous	3/6	-
4-69964395-C-A	UGT2B7	c.859C>A	p.P287T	Missense	2/6	-
6-36168580-C-T	BRPF3	c.481C>T	p.L161F	Missense	2/13	-
7-28997245-C-A	TRIL	c.418G>T	p.G139W	Missense	3/3	-
15-67358666-G-T	SMAD3	c.174G>T	p.Q58H	Missense	1/9	-
22-32756316-CT-TG	RFPL3	c.451_452delCTinsTG	p.L151C	Missense	2/2	-
15-67358666-G-C	SMAD3	c.174G>C	p.Q58H	Missense	1/9	-
X-138643867-C-A	F9	c.1023C>A	p.Y341*	Nonsense	8/8	-
16-77334251-G-A	ADAMTS18	c.2583C>T	p.P861=	Synonymous	17/23	-
2-69049498-C-T	ARHGAP25	c.1227C>T	p.P409=	Synonymous	10/11	-
1-150939673-G-A	CERS2	c.618C>T	p.F206=	Synonymous	8/11	-
9-27292451-G-A	EQTN	c.324C>T	p.S108=	Synonymous	4/8	-
9-27292451-G-C	EQTN	c.324C>G	p.S108=	Synonymous	4/8	-
9-27292451-G-T	EQTN	c.324C>A	p.S108=	Synonymous	4/8	-
19-47548453-G-A	NPAS1	c.1317G>A	p.P439=	Synonymous	12/12	-
9-21202135-G-A	IFNA7	c.30C>T	p.V10=	Synonymous	1/1	-
9-109746495-C-T	ZNF462	c.6861C>T	p.C2287=	Synonymous	10/13	-
11-67235031-G-A	TMEM134	c.270C>T	p.S90=	Synonymous	3/7	-
19-38189400-G-C	ZNF607	c.1632C>G	p.F544L	Missense	5/5	-
16-23387139-G-T	SCNN1B	c.1233G>T	p.G411=	Synonymous	8/13	-
16-23387139-G-A	SCNN1B	c.1233G>A	p.G411=	Synonymous	8/13	-
16-23387139-G-C	SCNN1B	c.1233G>C	p.G411=	Synonymous	8/13	-
5-140502960-C-T	PCDHB4	c.1380C>T	p.R460=	Synonymous	1/1	-
11-66050824-T-C	CNIH2	c.417T>C	p.L139=	Synonymous	5/6	-
3-142281505-G-A	ATR	c.739C>T	p.L247=	Synonymous	4/47	-
14-23078768-G-A	ABHD4	c.891G>A	p.T297=	Synonymous	6/7	-
2-179599470-C-T	TTN	c.15181G>A	p.G5061S	Missense	51/363	-
3-107941124-C-A	IFT57	c.46G>T	p.G16W	Missense	1/11	-
17-56166550-A-C	DYNLL2	c.180A>C	p.R60=	Synonymous	3/3	-
5-23527719-TTCGCAATAAGTCACACCTCCTCAGACACCAGAGGACACACACAGGGGAGAAGCCCTACG-T	PRDM9	c.2524_2607del84	p.R842Lfs*9	InFrameDeletion	11/11	-
6-100010788-C-T	CCNC	c.69G>A	p.K23=	Synonymous	2/12	-
11-36453428-T-C	PRR5L	c.320T>C	p.F107S	Missense	5/9	-
1-181686272-C-T	CACNA1E	c.1359C>T	p.D453=	Synonymous	11/48	-
1-248436886-G-T	OR2T33	c.231C>A	p.P77=	Synonymous	2/2	-
X-115572207-G-A	SLC6A14	c.288G>A	p.L96=	Synonymous	3/14	-
19-8531196-T-G	HNRNPM	c.708T>G	p.L236=	Synonymous	7/16	-
19-8531196-T-A	HNRNPM	c.708T>A	p.L236=	Synonymous	7/16	-
19-8531196-T-C	HNRNPM	c.708T>C	p.L236=	Synonymous	7/16	-
6-20402610-C-A	E2F3	c.147C>A	p.A49=	Synonymous	1/7	-
8-61654289-T-C	CHD7	c.298T>C	p.S100P	Missense	2/38	-
6-20402610-C-G	E2F3	c.147C>G	p.A49=	Synonymous	1/7	-
6-20402610-C-T	E2F3	c.147C>T	p.A49=	Synonymous	1/7	-
13-114292158-C-T	TFDP1	c.1032C>T	p.G344=	Synonymous	11/12	-
10-64148266-G-A	ZNF365	c.855G>A	p.A285=	Synonymous	3/5	-
10-64148266-G-C	ZNF365	c.855G>C	p.A285=	Synonymous	3/5	-
10-64148266-G-T	ZNF365	c.855G>T	p.A285=	Synonymous	3/5	-
11-67375897-C-G	NDUFV1	c.103C>G	p.L35V	Missense	2/10	-
2-130872871-C-T	POTEF	c.552G>A	p.G184=	Synonymous	4/17	-
5-140502960-C-G	PCDHB4	c.1380C>G	p.R460=	Synonymous	1/1	-
22-41833284-C-T	TOB2	c.66G>A	p.R22=	Synonymous	2/2	-
5-134191087-C-A	C5orf24	c.497C>A	p.P166H	Missense	2/2	-
21-46086718-GA-CG	KRTAP12-2	c.85_86delinsCG	p.S29R	Missense	1/1	-
17-56166548-C-A	DYNLL2	c.178C>A	p.R60=	Synonymous	3/3	-
17-56166550-A-G	DYNLL2	c.180A>G	p.R60=	Synonymous	3/3	-
17-56166550-A-T	DYNLL2	c.180A>T	p.R60=	Synonymous	3/3	-
19-41847835-C-A	TGFB1	c.813G>T	p.L271=	Synonymous	5/7	-
15-82726467-T-C	GOLGA6L9	c.667T>C	p.C223R	Missense	6/9	-
19-41847835-C-T	TGFB1	c.813G>A	p.L271=	Synonymous	5/7	-
19-41847835-C-G	TGFB1	c.813G>C	p.L271=	Synonymous	5/7	-
19-41847837-G-A	TGFB1	c.811C>T	p.L271=	Synonymous	5/7	-
5-140502960-C-A	PCDHB4	c.1380C>A	p.R460=	Synonymous	1/1	-
10-24669920-T-G	KIAA1217	c.477T>G	p.P159=	Synonymous	3/21	-
10-24669920-T-A	KIAA1217	c.477T>A	p.P159=	Synonymous	3/21	-
10-24669920-T-C	KIAA1217	c.477T>C	p.P159=	Synonymous	3/21	-
1-158597487-C-G	SPTA1	c.5592G>C	p.L1864F	Missense	40/52	-
14-20296177-C-A	OR4N2	c.570C>A	p.T190=	Synonymous	2/2	-
14-20296177-C-G	OR4N2	c.570C>G	p.T190=	Synonymous	2/2	-
14-20296177-C-T	OR4N2	c.570C>T	p.T190=	Synonymous	2/2	-
8-38133285-G-A	NSD3	c.4188C>T	p.P1396=	Synonymous	24/24	-
8-38133285-G-C	NSD3	c.4188C>G	p.P1396=	Synonymous	24/24	-
8-38133285-G-T	NSD3	c.4188C>A	p.P1396=	Synonymous	24/24	-
5-140604857-G-A	PCDHB14	c.1780G>A	p.G594S	Missense	1/1	-
19-50161137-C-A	SCAF1	c.3738C>A	p.A1246=	Synonymous	10/11	-
19-50161137-C-G	SCAF1	c.3738C>G	p.A1246=	Synonymous	10/11	-
19-50161137-C-T	SCAF1	c.3738C>T	p.A1246=	Synonymous	10/11	-
1-180886055-G-T	KIAA1614	c.816G>T	p.L272=	Synonymous	2/9	-
1-180886055-G-A	KIAA1614	c.816G>A	p.L272=	Synonymous	2/9	-
1-180886055-G-C	KIAA1614	c.816G>C	p.L272=	Synonymous	2/9	-
1-180886053-C-T	KIAA1614	c.814C>T	p.L272=	Synonymous	2/9	-
9-84607492-C-T	SPATA31D1	c.2107C>T	p.P703S	Missense	4/4	-
2-179444039-G-T	TTN	c.67718C>A	p.P22573H	Missense	320/363	-
2-179396652-G-T	TTN	c.104690C>A	p.S34897*	Nonsense	358/363	-
10-18122716-A-G	MRC1	c.726A>G	p.Q242=	Synonymous	4/30	-
9-127167651-G-A	PSMB7	c.456C>T	p.H152=	Synonymous	5/8	-
3-193349413-G-T	OPA1	c.802G>T	p.E268*	Nonsense	8/31	-
22-18301254-C-T	MICAL3	c.4173G>A	p.L1391=	Synonymous	26/32	-
3-44488543-C-A	ZNF445	c.2620G>T	p.G874W	Missense	8/8	-
5-11022929-G-A	CTNND2	c.2951C>T	p.A984V	Missense	17/22	-
19-17535766-G-C	MVB12A	c.786G>C	p.K262N	Missense	9/9	-
19-17535766-G-T	MVB12A	c.786G>T	p.K262N	Missense	9/9	-
6-80196908-G-T	LCA5	c.1907C>A	p.P636H	Missense	8/8	-
19-33370283-C-A	CEP89	c.2137G>T	p.E713*	Nonsense	19/19	-
1-47399670-G-A	CYP4A11	c.1170C>T	p.G390=	Synonymous	9/12	-
1-47399670-G-C	CYP4A11	c.1170C>G	p.G390=	Synonymous	9/12	-
14-23078768-G-T	ABHD4	c.891G>T	p.T297=	Synonymous	6/7	-
1-152084174-G-GTTGTTGCTCCCTCCTCTC	TCHH	c.1518_1519insGAGAGGAGGGAGCAACAA	p.E501_Q506dup	InFrameInsertion	3/3	-
1-212530003-C-A	PPP2R5A	c.963C>A	p.T321=	Synonymous	9/13	-
1-212530003-C-G	PPP2R5A	c.963C>G	p.T321=	Synonymous	9/13	-
1-212530003-C-T	PPP2R5A	c.963C>T	p.T321=	Synonymous	9/13	-
4-38798889-C-G	TLR1	c.1564G>C	p.G522R	Missense	4/4	-
16-2114392-A-G	TSC2	c.1563A>G	p.T521=	Synonymous	15/42	-
16-2114392-A-T	TSC2	c.1563A>T	p.T521=	Synonymous	15/42	-
16-2114392-A-C	TSC2	c.1563A>C	p.T521=	Synonymous	15/42	-
14-23078768-G-C	ABHD4	c.891G>C	p.T297=	Synonymous	6/7	-
11-57886854-G-C	OR9I1	c.63C>G	p.P21=	Synonymous	3/3	-
11-57100207-G-A	SSRP1	c.660C>T	p.P220=	Synonymous	6/17	-
1-173840158-G-A	ZBTB37	c.795G>A	p.G265=	Synonymous	3/5	-
17-63052493-C-A	GNA13	c.219G>T	p.G73=	Synonymous	1/4	-
12-6692377-G-A	CHD4	c.4047C>T	p.S1349=	Synonymous	26/40	-
12-6692377-G-C	CHD4	c.4047C>G	p.S1349=	Synonymous	26/40	-
12-6692515-A-G	CHD4	c.3909T>C	p.I1303=	Synonymous	26/40	-
12-6692515-A-T	CHD4	c.3909T>A	p.I1303=	Synonymous	26/40	-
14-103802387-C-T	EIF5	c.87C>T	p.G29=	Synonymous	4/12	-
14-103802387-C-G	EIF5	c.87C>G	p.G29=	Synonymous	4/12	-
17-47886528-T-G	KAT7	c.711T>G	p.S237=	Synonymous	6/15	-
17-47886528-T-C	KAT7	c.711T>C	p.S237=	Synonymous	6/15	-
17-47886528-T-A	KAT7	c.711T>A	p.S237=	Synonymous	6/15	-
17-63052493-C-T	GNA13	c.219G>A	p.G73=	Synonymous	1/4	-
19-8530330-C-G	HNRNPM	c.561C>G	p.P187=	Synonymous	6/16	-
19-8530330-C-A	HNRNPM	c.561C>A	p.P187=	Synonymous	6/16	-
17-59763235-G-C	BRIP1	c.2867C>G	p.S956*	Nonsense	19/20	-
1-152777757-T-A	LCE1C	c.198A>T	p.G66=	Synonymous	2/2	-
19-532090-C-T	CDC34	c.159C>T	p.Y53=	Synonymous	1/5	-
1-43803867-C-T	MPL	c.177C>T	p.P59=	Synonymous	2/12	-
10-105882835-C-T	SFR1	c.126C>T	p.S42=	Synonymous	2/4	-
15-74919745-G-A	CLK3	c.870G>A	p.L290=	Synonymous	8/13	-
10-468932-C-A	DIP2C	c.436G>T	p.D146Y	Missense	5/37	-
19-17571442-G-A	NXNL1	c.237C>T	p.S79=	Synonymous	1/2	-
19-17571442-G-C	NXNL1	c.237C>G	p.S79=	Synonymous	1/2	-
19-17571442-G-T	NXNL1	c.237C>A	p.S79=	Synonymous	1/2	-
19-44792320-C-G	ZNF235	c.1268G>C	p.R423T	Missense	5/5	-
2-31621504-C-T	XDH	c.368G>A	p.S123N	Missense	5/36	-
2-48027740-G-A	MSH6	c.2618G>A	p.G873E	Missense	4/10	-
3-55002491-A-G	CACNA2D3	c.2464A>G	p.M822V	Missense	28/38	-
5-61877059-G-C	LRRC70	c.1794G>C	p.E598D	Missense	2/2	-
5-61877059-G-T	LRRC70	c.1794G>T	p.E598D	Missense	2/2	-
12-62688050-G-A	USP15	c.180G>A	p.V60=	Synonymous	2/22	-
12-62688050-G-C	USP15	c.180G>C	p.V60=	Synonymous	2/22	-
12-62688050-G-T	USP15	c.180G>T	p.V60=	Synonymous	2/22	-
12-62688065-T-C	USP15	c.195T>C	p.I65=	Synonymous	2/22	-
12-62688065-T-A	USP15	c.195T>A	p.I65=	Synonymous	2/22	-
12-93258683-A-T	EEA1	c.198T>A	p.A66=	Synonymous	3/29	-
12-93258683-A-G	EEA1	c.198T>C	p.A66=	Synonymous	3/29	-
12-93258683-A-C	EEA1	c.198T>G	p.A66=	Synonymous	3/29	-
15-34439019-G-A	KATNBL1	c.731C>T	p.A244V	Missense	8/10	-
16-31488243-C-A	TGFB1I1	c.1031C>A	p.P344Q	Missense	10/11	-
19-17337610-C-A	OCEL1	c.178C>A	p.R60=	Synonymous	2/6	-
19-17337612-G-A	OCEL1	c.180G>A	p.R60=	Synonymous	2/6	-
19-17337612-G-C	OCEL1	c.180G>C	p.R60=	Synonymous	2/6	-
19-17337612-G-T	OCEL1	c.180G>T	p.R60=	Synonymous	2/6	-
19-45368559-C-T	NECTIN2	c.120C>T	p.P40=	Synonymous	2/9	-
19-45368559-C-G	NECTIN2	c.120C>G	p.P40=	Synonymous	2/9	-
19-45368559-C-A	NECTIN2	c.120C>A	p.P40=	Synonymous	2/9	-
2-27424895-G-A	SLC5A6	c.1323C>T	p.L441=	Synonymous	13/17	-
2-27424895-G-C	SLC5A6	c.1323C>G	p.L441=	Synonymous	13/17	-
2-27424895-G-T	SLC5A6	c.1323C>A	p.L441=	Synonymous	13/17	-
2-128628918-C-T	AMMECR1L	c.423G>A	p.T141=	Synonymous	4/8	-
2-128628918-C-A	AMMECR1L	c.423G>T	p.T141=	Synonymous	4/8	-
2-128628918-C-G	AMMECR1L	c.423G>C	p.T141=	Synonymous	4/8	-
2-227872261-G-A	COL4A4	c.4853C>T	p.S1618L	Missense	48/48	-
1-11008843-GC-AG	C1orf127	c.1348_1349delGCinsCT	p.A450L	Missense	12/13	-
1-13695704-T-C	PRAMEF19	c.1261A>G	p.N421D	Missense	3/3	-
1-21560114-C-A	ECE1	c.1607G>T	p.R536L	Missense	14/19	-
1-89427778-C-G	KYAT3	c.504G>C	p.M168I	Missense	6/14	-
1-89427778-C-T	KYAT3	c.504G>A	p.M168I	Missense	6/14	-
1-89427778-C-A	KYAT3	c.504G>T	p.M168I	Missense	6/14	-
1-145538989-C-A	ITGA10	c.2929C>A	p.L977I	Missense	25/30	-
1-153309708-G-T	PGLYRP4	c.892C>A	p.P298T	Missense	8/9	-
1-172628382-G-T	FASLG	c.41G>T	p.W14L	Missense	1/4	-
21-10944669-T-A	TPTE	c.565A>T	p.R189*	Nonsense	11/24	-
19-501715-G-GGAGCCTCCTAACACAACAAGCCCT	MADCAM1	c.717_718insCCTCCTAACACAACAAGCCCTGAG	p.E239_S240insPPNTTSPE	InFrameInsertion	4/5	-
9-14722448-G-C	CER1	c.223C>G	p.Q75E	Missense	1/2	-
3-49362152-C-T	USP4	c.678G>A	p.R226=	Synonymous	6/22	-
3-49362154-T-G	USP4	c.676A>C	p.R226=	Synonymous	6/22	-
21-10959764-A-G	TPTE	c.210T>C	p.D70=	Synonymous	8/24	-
9-140083223-G-T	SSNA1	c.45G>T	p.L15=	Synonymous	1/3	-
9-140083223-G-A	SSNA1	c.45G>A	p.L15=	Synonymous	1/3	-
9-140083223-G-C	SSNA1	c.45G>C	p.L15=	Synonymous	1/3	-
9-140083221-C-T	SSNA1	c.43C>T	p.L15=	Synonymous	1/3	-
6-33668251-A-C	UQCC2	c.253T>G	p.L85V	Missense	3/4	-
3-49362179-A-C	USP4	c.651T>G	p.P217=	Synonymous	6/22	-
3-49362179-A-T	USP4	c.651T>A	p.P217=	Synonymous	6/22	-
3-49362179-A-G	USP4	c.651T>C	p.P217=	Synonymous	6/22	-
5-133707302-C-A	UBE2B	c.16C>A	p.R6=	Synonymous	1/6	-
5-133707304-G-A	UBE2B	c.18G>A	p.R6=	Synonymous	1/6	-
5-133707304-G-C	UBE2B	c.18G>C	p.R6=	Synonymous	1/6	-
5-133707304-G-T	UBE2B	c.18G>T	p.R6=	Synonymous	1/6	-
6-132271517-C-T	CCN2	c.456G>A	p.R152=	Synonymous	3/5	-
6-132271519-T-G	CCN2	c.454A>C	p.R152=	Synonymous	3/5	-
19-677941-G-C	FSTL3	c.253G>C	p.G85R	Missense	2/5	-
7-91699441-A-G	AKAP9	c.6428A>G	p.N2143S	Missense	27/50	-
8-28210185-A-C	ZNF395	c.825T>G	p.S275=	Synonymous	6/10	-
8-28210185-A-G	ZNF395	c.825T>C	p.S275=	Synonymous	6/10	-
8-28210185-A-T	ZNF395	c.825T>A	p.S275=	Synonymous	6/10	-
3-132389882-A-G	UBA5	c.568A>G	p.T190A	Missense	6/12	-
13-114292158-C-G	TFDP1	c.1032C>G	p.G344=	Synonymous	11/12	-
13-114292158-C-A	TFDP1	c.1032C>A	p.G344=	Synonymous	11/12	-
2-130872871-C-A	POTEF	c.552G>T	p.G184=	Synonymous	4/17	-
2-130872871-C-G	POTEF	c.552G>C	p.G184=	Synonymous	4/17	-
4-184615825-C-T	TRAPPC11	c.2577C>T	p.Y859=	Synonymous	23/30	-
6-132271257-A-C	CCN2	c.585T>G	p.I195M	Missense	4/5	-
6-15652328-T-C	DTNBP1	c.100A>G	p.S34G	Missense	2/10	-
7-43908573-G-A	MRPS24	c.209C>T	p.S70L	Missense	3/4	-
7-100275433-T-C	GNB2	c.489T>C	p.D163=	Synonymous	7/10	-
3-132389866-T-C	UBA5	c.552T>C	p.N184=	Synonymous	6/12	-
10-3822390-C-T	KLF6	c.708G>A	p.G236=	Synonymous	3/4	-
10-3822390-C-G	KLF6	c.708G>C	p.G236=	Synonymous	3/4	-
17-38975103-A-AGCTACCACCACCATAACCACCACCGCTGCTGCTACCACCACCATAACCACCACCGCTGCT	KRT10	c.1683_1684insAGCAGCGGTGGTGGTTATGGTGGTGGTAGCAGCAGCGGTGGTGGTTATGGTGGTGGTAGC	p.G565_H566insGYGGGSSSGGGYGGGSSSGG	InFrameInsertion	7/8	-
20-2413236-C-A	TGM6	c.2068C>A	p.H690N	Missense	13/13	-
15-85164783-GAAGAGCTTCAGCCAGAGCTCCAGTCTGATTGCACACCAGGGCATGCACACAGGGGAGAA-G	ZSCAN2	c.1357_1440del84	p.K453Tfs*90	InFrameDeletion	3/3	-
3-139080083-C-T	COPB2	c.2050G>A	p.G684S	Missense	17/22	-
1-71535030-A-G	ZRANB2	c.699T>C	p.S233=	Synonymous	8/10	-
1-150239571-A-G	APH1A	c.513T>C	p.H171=	Synonymous	5/7	-
9-103348539-G-T	CAVIN4	c.901G>T	p.E301*	Nonsense	2/2	-
1-154227353-A-G	UBAP2L	c.1896A>G	p.T632=	Synonymous	16/27	-
1-154227353-A-T	UBAP2L	c.1896A>T	p.T632=	Synonymous	16/27	-
1-154227353-A-C	UBAP2L	c.1896A>C	p.T632=	Synonymous	16/27	-
1-156925565-A-G	ARHGEF11	c.1698T>C	p.D566=	Synonymous	20/41	-
10-3822390-C-A	KLF6	c.708G>T	p.G236=	Synonymous	3/4	-
10-124186511-T-C	PLEKHA1	c.864T>C	p.I288=	Synonymous	11/12	-
10-124186511-T-A	PLEKHA1	c.864T>A	p.I288=	Synonymous	11/12	-
11-47447493-T-A	PSMC3	c.84A>T	p.G28=	Synonymous	2/12	-
11-47447493-T-C	PSMC3	c.84A>G	p.G28=	Synonymous	2/12	-
11-47447493-T-G	PSMC3	c.84A>C	p.G28=	Synonymous	2/12	-
11-61089134-A-C	DDB1	c.1158T>G	p.S386=	Synonymous	10/27	-
11-61089134-A-G	DDB1	c.1158T>C	p.S386=	Synonymous	10/27	-
11-61089134-A-T	DDB1	c.1158T>A	p.S386=	Synonymous	10/27	-
11-61089152-C-A	DDB1	c.1140G>T	p.G380=	Synonymous	10/27	-
11-61089152-C-T	DDB1	c.1140G>A	p.G380=	Synonymous	10/27	-
11-61089152-C-G	DDB1	c.1140G>C	p.G380=	Synonymous	10/27	-
11-74322577-T-C	POLD3	c.253T>C	p.L85=	Synonymous	4/12	-
11-74322579-G-A	POLD3	c.255G>A	p.L85=	Synonymous	4/12	-
11-117052218-G-A	SIDT2	c.270G>A	p.V90=	Synonymous	2/26	-
11-117052218-G-C	SIDT2	c.270G>C	p.V90=	Synonymous	2/26	-
11-117052218-G-T	SIDT2	c.270G>T	p.V90=	Synonymous	2/26	-
9-35057513-A-G	VCP	c.2175T>C	p.D725=	Synonymous	16/17	-
12-91497991-G-T	LUM	c.968C>A	p.P323Q	Missense	3/3	-
12-124810882-G-A	NCOR2	c.7218C>T	p.P2406=	Synonymous	48/49	-
12-124810882-G-C	NCOR2	c.7218C>G	p.P2406=	Synonymous	48/49	-
12-124810882-G-T	NCOR2	c.7218C>A	p.P2406=	Synonymous	48/49	-
14-35492252-A-C	SRP54	c.1293A>C	p.V431=	Synonymous	14/16	-
14-35492252-A-G	SRP54	c.1293A>G	p.V431=	Synonymous	14/16	-
14-35492252-A-T	SRP54	c.1293A>T	p.V431=	Synonymous	14/16	-
15-34517830-A-G	EMC4	c.180A>G	p.T60=	Synonymous	2/5	-
15-34517830-A-T	EMC4	c.180A>T	p.T60=	Synonymous	2/5	-
15-74919745-G-C	CLK3	c.870G>C	p.L290=	Synonymous	8/13	-
15-74919743-C-T	CLK3	c.868C>T	p.L290=	Synonymous	8/13	-
16-11981583-T-C	GSPT1	c.801A>G	p.T267=	Synonymous	7/15	-
16-11981583-T-A	GSPT1	c.801A>T	p.T267=	Synonymous	7/15	-
16-11981583-T-G	GSPT1	c.801A>C	p.T267=	Synonymous	7/15	-
16-30106447-C-A	YPEL3	c.252G>T	p.G84=	Synonymous	2/4	-
16-30106447-C-T	YPEL3	c.252G>A	p.G84=	Synonymous	2/4	-
16-30106447-C-G	YPEL3	c.252G>C	p.G84=	Synonymous	2/4	-
17-1383905-T-C	MYO1C	c.822A>G	p.K274=	Synonymous	7/32	-
17-27055864-G-T	NEK8	c.33G>T	p.G11=	Synonymous	1/15	-
17-27055864-G-A	NEK8	c.33G>A	p.G11=	Synonymous	1/15	-
17-27055864-G-C	NEK8	c.33G>C	p.G11=	Synonymous	1/15	-
17-40961506-C-A	CNTD1	c.946C>A	p.H316N	Missense	7/7	-
17-45730225-C-A	KPNB1	c.265C>A	p.R89=	Synonymous	3/22	-
17-45730227-A-C	KPNB1	c.267A>C	p.R89=	Synonymous	3/22	-
17-45730227-A-G	KPNB1	c.267A>G	p.R89=	Synonymous	3/22	-
17-45730227-A-T	KPNB1	c.267A>T	p.R89=	Synonymous	3/22	-
18-22806784-G-C	ZNF521	c.1098C>G	p.D366E	Missense	4/8	-
18-22806784-G-T	ZNF521	c.1098C>A	p.D366E	Missense	4/8	-
19-14037669-G-A	CC2D1A	c.2109G>A	p.K703=	Synonymous	20/29	-
19-40698595-C-A	MAP3K10	c.657C>A	p.I219=	Synonymous	1/10	-
19-40698595-C-T	MAP3K10	c.657C>T	p.I219=	Synonymous	1/10	-
2-99980826-A-G	EIF5B	c.1230A>G	p.K410=	Synonymous	6/24	-
5-133716465-T-A	UBE2B	c.207T>A	p.T69=	Synonymous	4/6	-
5-133716465-T-G	UBE2B	c.207T>G	p.T69=	Synonymous	4/6	-
5-133716465-T-C	UBE2B	c.207T>C	p.T69=	Synonymous	4/6	-
22-17600637-C-A	TMEM121B	c.1381G>T	p.G461W	Missense	1/1	-
5-133533493-A-T	PPP2CA	c.900T>A	p.V300=	Synonymous	7/7	-
5-133533493-A-C	PPP2CA	c.900T>G	p.V300=	Synonymous	7/7	-
3-38293862-T-C	OXSR1	c.1488T>C	p.N496=	Synonymous	17/18	-
3-47889422-A-G	DHX30	c.2262A>G	p.E754=	Synonymous	14/22	-
3-107492443-T-G	BBX	c.1875T>G	p.S625=	Synonymous	11/18	-
3-107492443-T-C	BBX	c.1875T>C	p.S625=	Synonymous	11/18	-
3-107492443-T-A	BBX	c.1875T>A	p.S625=	Synonymous	11/18	-
7-47872722-C-G	PKD1L1	c.6303G>C	p.M2101I	Missense	41/57	-
7-47872722-C-T	PKD1L1	c.6303G>A	p.M2101I	Missense	41/57	-
7-47872722-C-A	PKD1L1	c.6303G>T	p.M2101I	Missense	41/57	-
8-41363462-G-A	GOLGA7	c.297G>A	p.E99=	Synonymous	3/5	-
8-61497354-T-C	RAB2A	c.342T>C	p.I114=	Synonymous	5/8	-
8-61497354-T-A	RAB2A	c.342T>A	p.I114=	Synonymous	5/8	-
8-99042821-C-A	MATN2	c.2488C>A	p.L830I	Missense	15/19	-
4-9245612-A-C	USP17L17	c.8A>C	p.D3A	Missense	1/1	-
5-90678670-C-T	ARRDC3	c.240G>A	p.E80=	Synonymous	1/8	-
5-133561484-C-A	PPP2CA	c.69G>T	p.L23=	Synonymous	1/7	-
5-133561484-C-T	PPP2CA	c.69G>A	p.L23=	Synonymous	1/7	-
5-133561484-C-G	PPP2CA	c.69G>C	p.L23=	Synonymous	1/7	-
5-133561486-G-A	PPP2CA	c.67C>T	p.L23=	Synonymous	1/7	-
5-140573509-G-T	PCDHB10	c.1384G>T	p.E462*	Nonsense	1/1	-
5-137503674-C-A	BRD8	c.736G>T	p.G246W	Missense	9/27	-
5-151169915-G-T	G3BP1	c.127G>T	p.G43W	Missense	3/12	-
5-170239172-C-T	GABRP	c.1233C>T	p.P411=	Synonymous	10/10	-
5-170239172-C-G	GABRP	c.1233C>G	p.P411=	Synonymous	10/10	-
5-170239172-C-A	GABRP	c.1233C>A	p.P411=	Synonymous	10/10	-
6-16145179-G-C	MYLIP	c.879G>C	p.K293N	Missense	6/7	-
6-16145179-G-T	MYLIP	c.879G>T	p.K293N	Missense	6/7	-
6-49803149-G-A	CRISP1	c.630C>T	p.P210=	Synonymous	8/8	-
6-49803149-G-C	CRISP1	c.630C>G	p.P210=	Synonymous	8/8	-
15-34517830-A-C	EMC4	c.180A>C	p.T60=	Synonymous	2/5	-
15-73590922-T-C	NEO1	c.4135T>C	p.L1379=	Synonymous	27/29	-
15-73590924-G-A	NEO1	c.4137G>A	p.L1379=	Synonymous	27/29	-
15-74919745-G-T	CLK3	c.1314G>T	p.L290=	Synonymous	8/13	-
6-131931291-C-G	MED23	c.972G>C	p.G324=	Synonymous	11/29	-
6-152602962-C-T	SYNE1	c.18361G>A	p.A6121T	Missense	97/146	-
6-152651359-G-T	SYNE1	c.14461C>A	p.L4821M	Missense	78/146	-
7-42005709-C-A	GLI3	c.2962G>T	p.G988W	Missense	15/15	-
7-82474775-C-A	PCLO	c.13858G>T	p.D4620Y	Missense	13/25	-
5-140037217-C-A	IK	c.880C>A	p.R294S	Missense	10/20	-
7-82595225-G-T	PCLO	c.3879C>A	p.T1293=	Synonymous	4/25	-
7-82595225-G-C	PCLO	c.3879C>G	p.T1293=	Synonymous	4/25	-
7-82595225-G-A	PCLO	c.3879C>T	p.T1293=	Synonymous	4/25	-
7-100842021-A-C	MOGAT3	c.379T>G	p.F127V	Missense	4/7	-
7-154760792-C-A	PAXIP1	c.1119G>T	p.Q373H	Missense	7/21	-
7-154760792-C-G	PAXIP1	c.1119G>C	p.Q373H	Missense	7/21	-
8-25230133-C-A	DOCK5	c.3583C>A	p.L1195I	Missense	35/52	-
8-25290937-C-A	KCTD9	c.828G>T	p.Q276H	Missense	10/12	-
8-25290937-C-G	KCTD9	c.828G>C	p.Q276H	Missense	10/12	-
9-95795115-A-G	FGD3	c.1745A>G	p.D582G	Missense	16/18	-
9-125582690-C-A	PDCL	c.580G>T	p.G194W	Missense	4/4	-
9-128420037-C-A	MAPKAP1	c.391G>T	p.E131*	Nonsense	4/12	-
9-130570970-G-T	FPGS	c.956G>T	p.R319L	Missense	10/15	-
9-139566442-C-A	EGFL7	c.701C>A	p.P234Q	Missense	10/11	-
21-37444785-C-A	CBR1	c.439C>A	p.L147I	Missense	3/3	-
2-74605312-G-T	DCTN1	c.94C>A	p.R32S	Missense	2/32	-
X-11157246-C-A	ARHGAP6	c.2662G>T	p.G888W	Missense	13/13	-
5-90015959-G-T	ADGRV1	c.9542G>T	p.G3181V	Missense	44/90	-
2-74760062-C-A	HTRA2	c.1327C>A	p.R443=	Synonymous	8/8	-
2-74760064-G-A	HTRA2	c.1329G>A	p.R443=	Synonymous	8/8	-
2-74760064-G-C	HTRA2	c.1329G>C	p.R443=	Synonymous	8/8	-
2-74760064-G-T	HTRA2	c.1329G>T	p.R443=	Synonymous	8/8	-
2-112922597-C-G	FBLN7	c.255C>G	p.N85K	Missense	3/8	-
2-112922597-C-A	FBLN7	c.255C>A	p.N85K	Missense	3/8	-
5-79446732-C-A	SERINC5	c.1026G>T	p.Q342H	Missense	9/12	-
5-79446732-C-G	SERINC5	c.1026G>C	p.Q342H	Missense	9/12	-
1-41012399-C-A	ZNF684	c.404C>A	p.S135*	Nonsense	5/5	-
2-71797846-T-G	DYSF	c.3203T>G	p.L1068R	Missense	29/56	-
1-46764011-T-A	LRRC41	c.231A>T	p.L77=	Synonymous	2/10	-
1-46764011-T-C	LRRC41	c.231A>G	p.L77=	Synonymous	2/10	-
1-46764011-T-G	LRRC41	c.231A>C	p.L77=	Synonymous	2/10	-
1-46764013-G-A	LRRC41	c.229C>T	p.L77=	Synonymous	2/10	-
1-110559051-T-C	AHCYL1	c.868T>C	p.L290=	Synonymous	8/17	-
1-110559053-G-A	AHCYL1	c.870G>A	p.L290=	Synonymous	8/17	-
2-114228621-C-A	CBWD2	c.719C>A	p.S240Y	Missense	10/15	-
2-178481696-C-A	TTC30A	c.1734G>T	p.L578=	Synonymous	1/1	-
2-178481696-C-T	TTC30A	c.1734G>A	p.L578=	Synonymous	1/1	-
2-178481696-C-G	TTC30A	c.1734G>C	p.L578=	Synonymous	1/1	-
2-178481698-G-A	TTC30A	c.1732C>T	p.L578=	Synonymous	1/1	-
2-169874590-C-A	ABCB11	c.46G>T	p.E16*	Nonsense	2/28	-
2-55096468-C-A	EML6	c.2202C>A	p.T734=	Synonymous	14/41	-
2-55096468-C-G	EML6	c.2202C>G	p.T734=	Synonymous	14/41	-
2-55096468-C-T	EML6	c.2202C>T	p.T734=	Synonymous	14/41	-
20-3128612-C-A	FASTKD5	c.1105G>T	p.D369Y	Missense	2/2	-
20-39798890-C-A	PLCG1	c.2789C>A	p.A930D	Missense	24/32	-
20-49626768-C-G	KCNG1	c.108G>C	p.K36N	Missense	2/3	-
20-49626768-C-A	KCNG1	c.108G>T	p.K36N	Missense	2/3	-
2-69049498-C-G	ARHGAP25	c.1227C>G	p.P409=	Synonymous	10/11	-
2-69049498-C-A	ARHGAP25	c.1227C>A	p.P409=	Synonymous	10/11	-
3-142756050-C-T	U2SURP	c.2094C>T	p.P698=	Synonymous	21/28	-
3-142756050-C-G	U2SURP	c.2094C>G	p.P698=	Synonymous	21/28	-
3-142756050-C-A	U2SURP	c.2094C>A	p.P698=	Synonymous	21/28	-
20-62221759-G-T	GMEB2	c.1276C>A	p.P426T	Missense	10/10	-
4-74964382-G-T	CXCL2	c.244C>A	p.Q82K	Missense	3/4	-
4-77676111-C-T	SHROOM3	c.4475C>T	p.S1492F	Missense	7/11	-
4-83793179-C-A	SEC31A	c.700G>T	p.E234*	Nonsense	7/27	-
4-103590176-G-T	MANBA	c.1261C>A	p.L421I	Missense	10/17	-
2-220148153-C-G	DNAJB2	c.561C>G	p.N187K	Missense	8/9	-
2-220148153-C-A	DNAJB2	c.561C>A	p.N187K	Missense	8/9	-
4-152577389-T-C	FHIP1A	c.2557T>C	p.F853L	Missense	12/14	-
4-152577391-C-A	FHIP1A	c.2559C>A	p.F853L	Missense	12/14	-
4-152577391-C-G	FHIP1A	c.2559C>G	p.F853L	Missense	12/14	-
5-78340152-G-A	DMGDH	c.969C>T	p.S323=	Synonymous	6/16	-
5-78340152-G-C	DMGDH	c.969C>G	p.S323=	Synonymous	6/16	-
5-78340152-G-T	DMGDH	c.969C>A	p.S323=	Synonymous	6/16	-
3-48475147-T-C	CCDC51	c.447A>G	p.E149=	Synonymous	3/4	-
22-46318917-T-C	WNT7B	c.869A>G	p.Q290R	Missense	4/4	-
22-38111910-G-A	TRIOBP	c.597G>A	p.V199=	Synonymous	6/24	-
22-38111910-G-C	TRIOBP	c.597G>C	p.V199=	Synonymous	6/24	-
22-38111910-G-T	TRIOBP	c.597G>T	p.V199=	Synonymous	6/24	-
3-19575178-C-A	KCNH8	c.2911C>A	p.Q971K	Missense	16/16	-
3-119886848-C-A	GPR156	c.1476G>T	p.W492C	Missense	10/10	-
3-119886848-C-G	GPR156	c.1476G>C	p.W492C	Missense	10/10	-
3-121206620-G-T	POLQ	c.5158C>A	p.L1720I	Missense	16/30	-
3-73438999-C-A	PDZRN3	c.1384G>T	p.G462W	Missense	7/10	-
5-109190949-C-A	MAN2A1	c.3085C>A	p.L1029I	Missense	20/22	-
3-186915496-C-T	RTP1	c.193C>T	p.L65F	Missense	1/2	-
3-186364107-G-A	FETUB	c.665G>A	p.S222N	Missense	5/7	-
4-47559887-C-T	ATP10D	c.2031C>T	p.S677=	Synonymous	12/23	-
4-47559887-C-G	ATP10D	c.2031C>G	p.S677=	Synonymous	12/23	-
4-47559887-C-A	ATP10D	c.2031C>A	p.S677=	Synonymous	12/23	-
2-202603425-C-G	ALS2	c.2385G>C	p.M795I	Missense	12/34	-
2-202603425-C-T	ALS2	c.2385G>A	p.M795I	Missense	12/34	-
2-202603425-C-A	ALS2	c.2385G>T	p.M795I	Missense	12/34	-
4-54364857-C-A	LNX1	c.929G>T	p.G310V	Missense	5/11	-
2-74719824-C-A	TTC31	c.1213C>A	p.Q405K	Missense	12/13	-
3-156249286-G-T	KCNAB1	c.1170G>T	p.Q390H	Missense	13/14	-
3-156249286-G-C	KCNAB1	c.1170G>C	p.Q390H	Missense	13/14	-
19-14162508-G-T	IL27RA	c.1618G>T	p.G540*	Nonsense	12/14	-
22-50899008-G-T	SBF1	c.3101C>A	p.P1034H	Missense	24/41	-
22-23596126-C-A	BCR	c.1420C>A	p.R474=	Synonymous	2/23	-
22-23596128-G-A	BCR	c.1422G>A	p.R474=	Synonymous	2/23	-
22-23596128-G-C	BCR	c.1422G>C	p.R474=	Synonymous	2/23	-
22-23596128-G-T	BCR	c.1422G>T	p.R474=	Synonymous	2/23	-
19-45643529-G-T	PPP1R37	c.336G>T	p.L112=	Synonymous	3/13	-
19-45643529-G-A	PPP1R37	c.336G>A	p.L112=	Synonymous	3/13	-
19-45643529-G-C	PPP1R37	c.336G>C	p.L112=	Synonymous	3/13	-
19-45643527-C-T	PPP1R37	c.334C>T	p.L112=	Synonymous	3/13	-
19-35449807-A-G	ZNF792	c.952T>C	p.F318L	Missense	4/4	-
19-35449805-G-T	ZNF792	c.954C>A	p.F318L	Missense	4/4	-
19-35449805-G-C	ZNF792	c.954C>G	p.F318L	Missense	4/4	-
19-47571085-C-A	ZC3H4	c.2440G>T	p.G814*	Nonsense	15/15	-
19-18277956-G-T	PIK3R2	c.1576G>T	p.E526*	Nonsense	13/16	-
22-45798327-C-A	SMC1B	c.740G>T	p.R247M	Missense	5/25	-
3-10975824-G-T	SLC6A11	c.1547G>T	p.W516L	Missense	12/14	-
2-113414798-G-T	SLC20A1	c.758G>T	p.R253M	Missense	6/11	-
X-153053534-G-T	IDH3G	c.403C>A	p.L135I	Missense	6/13	-
2-98421623-C-A	TMEM131	c.2330G>T	p.W777L	Missense	22/41	-
3-53326662-G-T	DCP1A	c.820C>A	p.L274M	Missense	7/10	-
2-193059102-G-T	TMEFF2	c.149C>A	p.T50K	Missense	1/10	-
2-48027857-G-T	MSH6	c.2735G>T	p.W912L	Missense	4/10	-
19-45260288-G-T	BCL3	c.534G>T	p.L178=	Synonymous	4/9	-
19-45260288-G-A	BCL3	c.534G>A	p.L178=	Synonymous	4/9	-
19-45260288-G-C	BCL3	c.534G>C	p.L178=	Synonymous	4/9	-
19-45260286-C-T	BCL3	c.532C>T	p.L178=	Synonymous	4/9	-
2-10136488-C-A	GRHL1	c.1636C>A	p.L546M	Missense	14/16	-
2-179640299-G-T	TTN	c.6292C>A	p.R2098=	Synonymous	28/363	-
2-179640297-C-T	TTN	c.6294G>A	p.R2098=	Synonymous	28/363	-
6-49803149-G-T	CRISP1	c.630C>A	p.P210=	Synonymous	8/8	-
6-131931291-C-A	MED23	c.972G>T	p.G324=	Synonymous	11/29	-
6-131931291-C-T	MED23	c.972G>A	p.G324=	Synonymous	11/29	-
4-54374344-G-T	LNX1	c.431C>A	p.S144*	Nonsense	3/11	-
4-54374344-G-C	LNX1	c.431C>G	p.S144*	Nonsense	3/11	-
5-79470857-C-T	SERINC5	c.471G>A	p.V157=	Synonymous	5/12	-
5-79470857-C-G	SERINC5	c.471G>C	p.V157=	Synonymous	5/12	-
5-79470857-C-A	SERINC5	c.471G>T	p.V157=	Synonymous	5/12	-
5-148421127-C-A	SH3TC2	c.583G>T	p.G195W	Missense	6/17	-
5-162884060-G-T	NUDCD2	c.265C>A	p.L89I	Missense	3/4	-
6-11104088-G-T	ERVFRD-1	c.1456C>A	p.L486I	Missense	2/2	-
6-117198501-C-G	RFX6	c.63C>G	p.S21=	Synonymous	1/19	-
6-117198501-C-A	RFX6	c.63C>A	p.S21=	Synonymous	1/19	-
19-38189402-A-G	ZNF607	c.1630T>C	p.F544L	Missense	5/5	-
19-38189400-G-T	ZNF607	c.1632C>A	p.F544L	Missense	5/5	-
19-1456905-T-C	APC2	c.870T>C	p.D290=	Synonymous	9/15	-
3-51746567-C-A	GRM2	c.529C>A	p.R177S	Missense	3/6	-
3-10420053-G-T	ATP2B2	c.1084C>A	p.L362I	Missense	10/23	-
12-113595432-C-A	CFAP73	c.875C>A	p.S292Y	Missense	7/8	-
7-5416544-G-T	TNRC18	c.2542C>A	p.Q848K	Missense	8/30	-
7-55086993-G-T	EGFR	c.23G>T	p.G8V	Missense	1/28	-
7-135310029-G-T	NUP205	c.4597G>T	p.D1533Y	Missense	32/43	-
8-42183519-C-T	IKBKB	c.2018C>T	p.P673L	Missense	20/22	-
8-143747362-T-G	JRK	c.116A>C	p.K39T	Missense	2/3	-
9-102722396-G-T	STX17	c.541G>T	p.E181*	Nonsense	6/8	-
16-2143679-C-A	PKD1	c.10882G>T	p.D3628Y	Missense	37/46	-
9-131515592-G-C	ZER1	c.597C>G	p.N199K	Missense	4/16	-
9-131515592-G-T	ZER1	c.597C>A	p.N199K	Missense	4/16	-
17-73501963-C-A	CASKIN2	c.774G>T	p.L258=	Synonymous	9/20	-
17-73501963-C-T	CASKIN2	c.774G>A	p.L258=	Synonymous	9/20	-
17-73501963-C-G	CASKIN2	c.774G>C	p.L258=	Synonymous	9/20	-
17-73501965-G-A	CASKIN2	c.772C>T	p.L258=	Synonymous	9/20	-
9-136444159-G-T	FAM163B	c.486C>A	p.I162=	Synonymous	3/3	-
9-136444159-G-A	FAM163B	c.486C>T	p.I162=	Synonymous	3/3	-
17-16843819-G-T	TNFRSF13B	c.452C>A	p.P151Q	Missense	4/5	-
9-139739740-G-T	AJM1	c.874G>T	p.G292C	Missense	3/3	-
17-78086461-G-T	GAA	c.1839G>T	p.W613C	Missense	13/20	-
15-39885364-G-T	THBS1	c.2931G>T	p.W977C	Missense	18/22	-
15-39885364-G-C	THBS1	c.2931G>C	p.W977C	Missense	18/22	-
15-41820499-C-A	RPAP1	c.1194G>T	p.L398=	Synonymous	10/25	-
15-41820499-C-T	RPAP1	c.1194G>A	p.L398=	Synonymous	10/25	-
15-41820499-C-G	RPAP1	c.1194G>C	p.L398=	Synonymous	10/25	-
15-41820501-G-A	RPAP1	c.1192C>T	p.L398=	Synonymous	10/25	-
15-50212597-C-A	ATP8B4	c.1769G>T	p.G590V	Missense	18/28	-
14-64701842-G-T	ESR2	c.1252C>A	p.Q418K	Missense	8/9	-
17-15207393-G-T	TEKT3	c.1333C>A	p.L445M	Missense	9/9	-
16-88782507-C-G	PIEZO1	c.7150G>C	p.G2384R	Missense	50/51	-
17-3935541-C-T	ZZEF1	c.6771G>A	p.V2257=	Synonymous	42/55	-
17-3935541-C-G	ZZEF1	c.6771G>C	p.V2257=	Synonymous	42/55	-
17-3935541-C-A	ZZEF1	c.6771G>T	p.V2257=	Synonymous	42/55	-
15-64446605-G-A	SNX22	c.480G>A	p.V160=	Synonymous	7/7	-
15-64446605-G-C	SNX22	c.480G>C	p.V160=	Synonymous	7/7	-
15-64446605-G-T	SNX22	c.480G>T	p.V160=	Synonymous	7/7	-
20-56730554-C-A	C20orf85	c.181C>A	p.P61T	Missense	3/4	-
13-53421147-G-A	PCDH8	c.1425C>T	p.P475=	Synonymous	1/3	-
13-53421147-G-C	PCDH8	c.1425C>G	p.P475=	Synonymous	1/3	-
13-53421147-G-T	PCDH8	c.1425C>A	p.P475=	Synonymous	1/3	-
19-9064037-C-G	MUC16	c.23409G>C	p.M7803I	Missense	3/84	-
19-9064037-C-T	MUC16	c.23409G>A	p.M7803I	Missense	3/84	-
3-128516891-T-C	RAB7A	c.159T>C	p.D53=	Synonymous	3/6	-
3-142985683-C-A	SLC9A9	c.1799G>T	p.S600I	Missense	16/16	-
4-5642369-C-A	EVC2	c.1342G>T	p.D448Y	Missense	10/22	-
4-9212471-C-T	USP17L10	c.89C>T	p.A30V	Missense	1/1	-
7-1487321-C-T	MICALL2	c.415G>A	p.A139T	Missense	4/17	-
9-112018721-A-G	EPB41L4B	c.792T>C	p.N264=	Synonymous	8/26	-
19-58018744-C-G	ZNF773	c.1281C>G	p.S427R	Missense	4/4	-
19-58018744-C-A	ZNF773	c.1281C>A	p.S427R	Missense	4/4	-
19-58018742-A-C	ZNF773	c.1279A>C	p.S427R	Missense	4/4	-
9-27284847-C-A	EQTN	c.759G>T	p.L253F	Missense	8/8	-
9-27284847-C-G	EQTN	c.759G>C	p.L253F	Missense	8/8	-
9-39073985-T-C	CNTNAP3	c.3769A>G	p.I1257V	Missense	24/24	-
5-52779488-A-C	FST	c.432A>C	p.A144=	Synonymous	3/6	-
5-52779488-A-G	FST	c.432A>G	p.A144=	Synonymous	3/6	-
5-52779488-A-T	FST	c.432A>T	p.A144=	Synonymous	3/6	-
3-126363147-C-A	TXNRD3	c.512G>T	p.C171F	Missense	4/16	-
1-36101945-A-G	PSMB2	c.180T>C	p.I60=	Synonymous	2/6	-
1-36101945-A-T	PSMB2	c.180T>A	p.I60=	Synonymous	2/6	-
3-52088000-C-A	DUSP7	c.908G>T	p.S303I	Missense	2/3	-
2-201436074-G-A	SGO2	c.1005G>A	p.E335=	Synonymous	7/9	-
17-72889622-CCTCGCCCCCACGGTGCGCGCTCCGCGCCGGTTCCATGGGCTCCGTAGGTTCCAT-C	FADS6	c.19_72del54	p.M25_E42del	InFrameDeletion	1/6	-
5-176308205-C-G	HK3	c.2641G>C	p.V881L	Missense	19/19	-
5-176308205-C-A	HK3	c.2641G>T	p.V881L	Missense	19/19	-
1-55473971-C-T	BSND	c.633C>T	p.P211=	Synonymous	4/4	-
1-55473971-C-G	BSND	c.633C>G	p.P211=	Synonymous	4/4	-
1-55473971-C-A	BSND	c.633C>A	p.P211=	Synonymous	4/4	-
13-42891809-T-G	AKAP11	c.5550T>G	p.N1850K	Missense	12/13	-
13-42891809-T-A	AKAP11	c.5550T>A	p.N1850K	Missense	12/13	-
1-154527223-C-T	UBE2Q1	c.576G>A	p.E192=	Synonymous	4/13	-
16-31198135-T-A	FUS	c.777T>A	p.R259=	Synonymous	7/15	-
16-31198135-T-G	FUS	c.777T>G	p.R259=	Synonymous	7/15	-
9-35064216-G-A	VCP	c.643C>T	p.Q215*	Nonsense	6/17	-
9-37442276-C-A	ZBTB5	c.273G>T	p.L91=	Synonymous	2/2	-
9-37442276-C-T	ZBTB5	c.273G>A	p.L91=	Synonymous	2/2	-
9-37442276-C-G	ZBTB5	c.273G>C	p.L91=	Synonymous	2/2	-
9-37442278-G-A	ZBTB5	c.271C>T	p.L91=	Synonymous	2/2	-
19-45815093-A-C	CKM	c.567T>G	p.D189E	Missense	5/8	-
19-45815093-A-T	CKM	c.567T>A	p.D189E	Missense	5/8	-
12-111085609-A-T	TCTN1	c.1691A>T	p.D564V	Missense	14/15	-
11-66050824-T-G	CNIH2	c.417T>G	p.L139=	Synonymous	5/6	-
11-66050824-T-A	CNIH2	c.417T>A	p.L139=	Synonymous	5/6	-
12-58143248-G-A	CDK4	c.672C>T	p.G224=	Synonymous	6/8	-
12-58143248-G-C	CDK4	c.672C>G	p.G224=	Synonymous	6/8	-
12-58143248-G-T	CDK4	c.672C>A	p.G224=	Synonymous	6/8	-
14-89069358-C-T	ZC3H14	c.1701C>T	p.H567=	Synonymous	12/17	-
19-2834502-G-T	ZNF554	c.1269G>T	p.L423=	Synonymous	5/5	-
19-2834502-G-A	ZNF554	c.1269G>A	p.L423=	Synonymous	5/5	-
19-2834502-G-C	ZNF554	c.1269G>C	p.L423=	Synonymous	5/5	-
19-2834500-C-T	ZNF554	c.1267C>T	p.L423=	Synonymous	5/5	-
19-45480701-A-T	CLPTM1	c.570A>T	p.T190=	Synonymous	5/14	-
19-45480701-A-C	CLPTM1	c.570A>C	p.T190=	Synonymous	5/14	-
2-64327619-T-C	PELI1	c.216A>G	p.K72=	Synonymous	4/7	-
14-89039287-T-G	ZC3H14	c.797T>G	p.L266R	Missense	6/17	-
16-2226264-A-AG	TRAF7	c.1879dupG	p.V627Gfs*37	SpliceAcceptorInsertion	20/21	-
1-185269458-T-G	IVNS1ABP	c.1260A>C	p.V420=	Synonymous	12/15	-
1-185269458-T-C	IVNS1ABP	c.1260A>G	p.V420=	Synonymous	12/15	-
1-185269458-T-A	IVNS1ABP	c.1260A>T	p.V420=	Synonymous	12/15	-
11-85687687-T-C	PICALM	c.1818A>G	p.T606=	Synonymous	18/20	-
2-179640297-C-G	TTN	c.6294G>C	p.R2098=	Synonymous	28/363	-
2-179640297-C-A	TTN	c.6294G>T	p.R2098=	Synonymous	28/363	-
20-32247497-T-G	NECAB3	c.685A>C	p.N229H	Missense	8/12	-
2-219609884-C-A	TTLL4	c.1714C>A	p.R572=	Synonymous	6/20	-
2-219609886-A-C	TTLL4	c.1716A>C	p.R572=	Synonymous	6/20	-
2-219609886-A-G	TTLL4	c.1716A>G	p.R572=	Synonymous	6/20	-
2-219609886-A-T	TTLL4	c.1716A>T	p.R572=	Synonymous	6/20	-
3-132409476-C-A	NPHP3	c.2589G>T	p.W863C	Missense	19/27	-
3-132409476-C-G	NPHP3	c.2589G>C	p.W863C	Missense	19/27	-
3-132440896-G-A	NPHP3	c.304C>T	p.R102C	Missense	1/27	-
4-967131-C-A	DGKQ	c.140G>T	p.R47L	Missense	1/23	-
12-120536913-G-T	RAB35	c.273C>A	p.T91=	Synonymous	4/6	-
12-120536913-G-C	RAB35	c.273C>G	p.T91=	Synonymous	4/6	-
12-120536913-G-A	RAB35	c.273C>T	p.T91=	Synonymous	4/6	-
11-3249629-C-A	MRGPRE	c.401G>T	p.R134L	Missense	2/2	-
12-57971541-T-G	KIF5A	c.2346T>G	p.G782=	Synonymous	21/29	-
12-57971541-T-A	KIF5A	c.2346T>A	p.G782=	Synonymous	21/29	-
12-57971541-T-C	KIF5A	c.2346T>C	p.G782=	Synonymous	21/29	-
2-192546717-G-A	NABP1	c.276G>A	p.R92=	Synonymous	3/6	-
2-192546715-A-C	NABP1	c.274A>C	p.R92=	Synonymous	3/6	-
17-47882774-A-T	KAT7	c.630A>T	p.P210=	Synonymous	5/15	-
17-47882774-A-G	KAT7	c.630A>G	p.P210=	Synonymous	5/15	-
17-47882774-A-C	KAT7	c.630A>C	p.P210=	Synonymous	5/15	-
15-91037975-A-T	IQGAP1	c.4659A>T	p.G1553=	Synonymous	36/38	-
15-91037975-A-G	IQGAP1	c.4659A>G	p.G1553=	Synonymous	36/38	-
15-91037975-A-C	IQGAP1	c.4659A>C	p.G1553=	Synonymous	36/38	-
17-7517794-G-T	FXR2	c.57C>A	p.R19=	Synonymous	1/17	-
17-7517794-G-C	FXR2	c.57C>G	p.R19=	Synonymous	1/17	-
17-7517794-G-A	FXR2	c.57C>T	p.R19=	Synonymous	1/17	-
17-7406602-A-T	POLR2A	c.2919A>T	p.G973=	Synonymous	17/29	-
17-7406602-A-G	POLR2A	c.2919A>G	p.G973=	Synonymous	17/29	-
17-7406602-A-C	POLR2A	c.2919A>C	p.G973=	Synonymous	17/29	-
3-118917951-G-T	UPK1B	c.696G>T	p.G232=	Synonymous	7/8	-
3-118917951-G-A	UPK1B	c.696G>A	p.G232=	Synonymous	7/8	-
3-118917951-G-C	UPK1B	c.696G>C	p.G232=	Synonymous	7/8	-
1-150239030-G-T	APH1A	c.636C>A	p.A212=	Synonymous	6/7	-
1-150239030-G-C	APH1A	c.636C>G	p.A212=	Synonymous	6/7	-
1-150239030-G-A	APH1A	c.636C>T	p.A212=	Synonymous	6/7	-
19-38872834-A-G	PSMD8	c.881A>G	p.N294S	Missense	6/7	-
3-136152491-A-G	STAG1	c.1557T>C	p.D519=	Synonymous	16/34	-
3-142215326-C-A	ATR	c.5775G>T	p.L1925=	Synonymous	34/47	-
3-142215326-C-T	ATR	c.5775G>A	p.L1925=	Synonymous	34/47	-
3-142215326-C-G	ATR	c.5775G>C	p.L1925=	Synonymous	34/47	-
3-142215328-G-A	ATR	c.5773C>T	p.L1925=	Synonymous	34/47	-
5-90678724-A-C	ARRDC3	c.186T>G	p.S62=	Synonymous	1/8	-
5-90678724-A-G	ARRDC3	c.186T>C	p.S62=	Synonymous	1/8	-
5-90678724-A-T	ARRDC3	c.186T>A	p.S62=	Synonymous	1/8	-
5-178043932-A-G	CLK4	c.493T>C	p.L165=	Synonymous	5/13	-
5-178043930-C-T	CLK4	c.495G>A	p.L165=	Synonymous	5/13	-
22-41347474-G-A	RBX1	c.72G>A	p.V24=	Synonymous	1/5	-
22-41347474-G-C	RBX1	c.72G>C	p.V24=	Synonymous	1/5	-
22-41347474-G-T	RBX1	c.72G>T	p.V24=	Synonymous	1/5	-
X-51486973-C-T	GSPT2	c.251C>T	p.A84V	Missense	1/1	-
X-153197855-A-C	NAA10	c.255T>G	p.G85=	Synonymous	5/8	-
X-153197855-A-T	NAA10	c.255T>A	p.G85=	Synonymous	5/8	-
X-153197855-A-G	NAA10	c.255T>C	p.G85=	Synonymous	5/8	-
1-6279358-G-T	RNF207	c.1796G>T	p.W599L	Missense	18/18	-
1-152187053-G-A	HRNR	c.7052C>T	p.S2351F	Missense	3/3	-
17-38975103-A-AGCTACCACCACCATAACCACCACCGCTGCTGCTACCACCACCATAACCACCACCGCTGCTGCTACCACCACCATAACCACCACCGCTGCT	KRT10	c.1683_1684insAGCAGCGGTGGTGGTTATGGTGGTGGTAGCAGCAGCGGTGGTGGTTATGGTGGTGGTAGCAGCAGCGGTGGTGGTTATGGTGGTGGTAGC	p.S561_S562insSSGGGYGGGSSSGGGYGGGSSSGGGYGGGS	InFrameInsertion	7/8	-
17-7406704-GGTCGTC-G	POLR2A	c.2929_2934delGTCGTC	p.V977_V978del	InFrameDeletion	18/29	-
1-223931911-T-C	CAPN2	c.417T>C	p.F139=	Synonymous	3/21	-
1-203134585-A-C	ADORA1	c.538A>C	p.M180L	Missense	4/4	-
1-203134585-A-T	ADORA1	c.538A>T	p.M180L	Missense	4/4	-
11-57457837-C-T	ZDHHC5	c.588C>T	p.F196=	Synonymous	6/12	-
11-72554323-C-T	FCHSD2	c.1578G>A	p.Q526=	Synonymous	16/20	-
1-181058839-T-A	IER5	c.801T>A	p.A267=	Synonymous	1/1	-
1-181058839-T-C	IER5	c.801T>C	p.A267=	Synonymous	1/1	-
1-181058839-T-G	IER5	c.801T>G	p.A267=	Synonymous	1/1	-
1-185269443-G-A	IVNS1ABP	c.1275C>T	p.G425=	Synonymous	12/15	-
1-185269443-G-C	IVNS1ABP	c.1275C>G	p.G425=	Synonymous	12/15	-
1-185269443-G-T	IVNS1ABP	c.1275C>A	p.G425=	Synonymous	12/15	-
1-223931905-G-T	CAPN2	c.411G>T	p.G137=	Synonymous	3/21	-
1-223931905-G-A	CAPN2	c.411G>A	p.G137=	Synonymous	3/21	-
1-223931905-G-C	CAPN2	c.411G>C	p.G137=	Synonymous	3/21	-
10-91359199-C-A	PANK1	c.1120G>T	p.V374F	Missense	3/7	-
17-27869679-G-A	TAOK1	c.2645G>A	p.S882N	Missense	20/20	-
17-37882048-G-T	ERBB2	c.2814G>T	p.G938=	Synonymous	23/27	-
17-37882048-G-A	ERBB2	c.2814G>A	p.G938=	Synonymous	23/27	-
17-37882048-G-C	ERBB2	c.2814G>C	p.G938=	Synonymous	23/27	-
17-59763235-G-T	BRIP1	c.2867C>A	p.S956*	Nonsense	19/20	-
17-61902014-C-A	FTSJ3	c.900G>T	p.L300F	Missense	10/21	-
17-61902014-C-G	FTSJ3	c.900G>C	p.L300F	Missense	10/21	-
17-72999843-G-T	CDR2L	c.1072G>T	p.E358*	Nonsense	5/5	-
17-74151740-G-T	RNF157	c.1601C>A	p.S534Y	Missense	15/19	-
17-75478271-C-A	SEPTIN9	c.767C>A	p.P256H	Missense	4/12	-
17-76046539-C-A	TNRC6C	c.1396C>A	p.P466T	Missense	4/22	-
18-20572961-G-T	RBBP8	c.1171G>T	p.G391W	Missense	11/19	-
18-67755230-G-T	RTTN	c.4297C>A	p.R1433=	Synonymous	31/49	-
18-67755228-C-T	RTTN	c.4299G>A	p.R1433=	Synonymous	31/49	-
18-67755228-C-G	RTTN	c.4299G>C	p.R1433=	Synonymous	31/49	-
18-67755228-C-A	RTTN	c.4299G>T	p.R1433=	Synonymous	31/49	-
19-9406787-G-A	ZNF699	c.1293C>T	p.P431=	Synonymous	6/6	-
19-9406787-G-C	ZNF699	c.1293C>G	p.P431=	Synonymous	6/6	-
19-9406787-G-T	ZNF699	c.1293C>A	p.P431=	Synonymous	6/6	-
19-19638856-C-A	NDUFA13	c.356C>A	p.P119H	Missense	5/5	-
19-19917805-G-T	ZNF506	c.76C>A	p.R26=	Synonymous	2/4	-
19-19917803-C-T	ZNF506	c.78G>A	p.R26=	Synonymous	2/4	-
19-19917803-C-G	ZNF506	c.78G>C	p.R26=	Synonymous	2/4	-
19-19917803-C-A	ZNF506	c.78G>T	p.R26=	Synonymous	2/4	-
19-40317574-C-T	DYRK1B	c.1149G>A	p.T383=	Synonymous	9/11	-
19-40317574-C-A	DYRK1B	c.1149G>T	p.T383=	Synonymous	9/11	-
19-40317574-C-G	DYRK1B	c.1149G>C	p.T383=	Synonymous	9/11	-
19-49950596-C-A	PIH1D1	c.610G>T	p.G204W	Missense	6/9	-
1-248685034-C-A	OR2G6	c.87C>A	p.A29=	Synonymous	2/2	-
1-248685034-C-G	OR2G6	c.87C>G	p.A29=	Synonymous	2/2	-
1-248685034-C-T	OR2G6	c.87C>T	p.A29=	Synonymous	2/2	-
2-24962374-C-A	NCOA1	c.3275C>A	p.S1092*	Nonsense	18/23	-
2-24962374-C-G	NCOA1	c.3275C>G	p.S1092*	Nonsense	18/23	-
2-26438044-C-A	HADHA	c.677G>T	p.G226V	Missense	8/20	-
1-248436886-G-A	OR2T33	c.231C>T	p.P77=	Synonymous	2/2	-
1-248436886-G-C	OR2T33	c.231C>G	p.P77=	Synonymous	2/2	-
10-61612346-A-G	CCDC6	c.418T>C	p.F140L	Missense	2/9	-
10-61612344-G-T	CCDC6	c.420C>A	p.F140L	Missense	2/9	-
10-61612344-G-C	CCDC6	c.420C>G	p.F140L	Missense	2/9	-
17-61899467-G-T	FTSJ3	c.1352C>A	p.P451Q	Missense	14/21	-
10-47669240-C-T	ANTXRL	c.738C>T	p.L246=	Synonymous	9/17	-
10-47669240-C-G	ANTXRL	c.738C>G	p.L246=	Synonymous	9/17	-
10-47669240-C-A	ANTXRL	c.738C>A	p.L246=	Synonymous	9/17	-
1-16558772-G-T	CPLANE2	c.548C>A	p.T183K	Missense	5/5	-
1-16258428-G-T	SPEN	c.5693G>T	p.R1898L	Missense	11/15	-
1-85560195-C-A	DNAI3	c.1130C>A	p.S377*	Nonsense	10/23	-
1-85560195-C-G	DNAI3	c.1130C>G	p.S377*	Nonsense	10/23	-
1-224475577-G-T	NVL	c.1694C>A	p.P565H	Missense	14/23	-
1-235909733-T-C	LYST	c.7875A>G	p.R2625=	Synonymous	29/53	-
11-85687687-T-A	PICALM	c.1818A>T	p.T606=	Synonymous	18/20	-
11-85687687-T-G	PICALM	c.1818A>C	p.T606=	Synonymous	18/20	-
12-57587077-A-T	LRP1	c.7674A>T	p.P2558=	Synonymous	46/89	-
12-57587077-A-G	LRP1	c.7674A>G	p.P2558=	Synonymous	46/89	-
12-57587077-A-C	LRP1	c.7674A>C	p.P2558=	Synonymous	46/89	-
19-40487122-A-G	PSMC4	c.1167A>G	p.E389=	Synonymous	11/11	-
12-124848335-G-T	NCOR2	c.2818C>A	p.P940T	Missense	23/49	-
15-35044781-C-A	GJD2	c.864G>T	p.Q288H	Missense	2/2	-
15-35044781-C-G	GJD2	c.864G>C	p.Q288H	Missense	2/2	-
11-5878798-G-A	OR52E8	c.135C>T	p.L45=	Synonymous	1/1	-
11-5878798-G-C	OR52E8	c.135C>G	p.L45=	Synonymous	1/1	-
11-5878798-G-T	OR52E8	c.135C>A	p.L45=	Synonymous	1/1	-
11-6541317-G-C	DNHD1	c.1770G>C	p.K590N	Missense	9/43	-
11-6541317-G-T	DNHD1	c.1770G>T	p.K590N	Missense	9/43	-
10-96269894-G-T	TBC1D12	c.1647G>T	p.L549F	Missense	8/13	-
10-96269894-G-C	TBC1D12	c.1647G>C	p.L549F	Missense	8/13	-
10-17088034-G-T	CUBN	c.3389C>A	p.P1130Q	Missense	24/67	-
11-118345013-G-T	KMT2A	c.3139G>T	p.D1047Y	Missense	3/36	-
15-34130230-C-A	RYR3	c.12049C>A	p.P4017T	Missense	89/104	-
12-65514898-C-A	WIF1	c.74G>T	p.R25L	Missense	1/10	-
11-117280513-C-A	CEP164	c.3928C>A	p.P1310T	Missense	30/33	-
10-123903197-C-A	TACC2	c.5810C>A	p.P1937Q	Missense	7/23	-
11-88301126-C-A	GRM5	c.1725G>T	p.W575C	Missense	8/10	-
11-88301126-C-G	GRM5	c.1725G>C	p.W575C	Missense	8/10	-
12-49447847-G-T	KMT2D	c.587C>A	p.P196H	Missense	6/55	-
13-78320848-C-T	SLAIN1	c.1116C>T	p.P372=	Synonymous	4/7	-
13-78320848-C-G	SLAIN1	c.1116C>G	p.P372=	Synonymous	4/7	-
13-78320848-C-A	SLAIN1	c.1116C>A	p.P372=	Synonymous	4/7	-
13-40261761-C-A	COG6	c.910C>A	p.P304T	Missense	9/19	-
12-132426220-C-A	PUS1	c.928C>A	p.P310T	Missense	5/6	-
1-24432539-TC-AG	MYOM3	c.430_431delGAinsCT	p.E144L	Missense	5/37	-
14-24569273-A-G	PCK2	c.1085A>G	p.N362S	Missense	7/10	-
15-44166496-G-T	FRMD5	c.1300C>A	p.P434T	Missense	14/14	-
15-52488654-C-A	MYO5C	c.4847G>T	p.W1616L	Missense	39/41	-
11-117222682-GA-TG	CEP164	c.371_372delGAinsTG	p.R124M	Missense	5/33	-
15-63972801-C-A	HERC1	c.6400G>T	p.G2134*	Nonsense	35/78	-
15-90172660-G-T	KIF7	c.3463C>A	p.L1155M	Missense	17/19	-
15-90226942-C-A	PEX11A	c.410G>T	p.R137M	Missense	3/3	-
16-22337239-G-A	POLR3E	c.1506G>A	p.V502=	Synonymous	18/21	-
16-22337239-G-C	POLR3E	c.1506G>C	p.V502=	Synonymous	18/21	-
16-22337239-G-T	POLR3E	c.1506G>T	p.V502=	Synonymous	18/21	-
16-67218477-C-A	EXOC3L1	c.2061G>T	p.L687=	Synonymous	14/14	-
16-67218477-C-T	EXOC3L1	c.2061G>A	p.L687=	Synonymous	14/14	-
16-67218477-C-G	EXOC3L1	c.2061G>C	p.L687=	Synonymous	14/14	-
16-67218479-G-A	EXOC3L1	c.2059C>T	p.L687=	Synonymous	14/14	-
16-67974062-G-A	LCAT	c.1068C>T	p.P356=	Synonymous	6/6	-
16-67974062-G-C	LCAT	c.1068C>G	p.P356=	Synonymous	6/6	-
17-7366054-A-C	ZBTB4	c.2247T>G	p.G749=	Synonymous	4/4	-
17-7366054-A-T	ZBTB4	c.2247T>A	p.G749=	Synonymous	4/4	-
17-7366054-A-G	ZBTB4	c.2247T>C	p.G749=	Synonymous	4/4	-
17-9511531-C-T	CFAP52	c.849C>T	p.P283=	Synonymous	7/14	-
17-9511531-C-G	CFAP52	c.849C>G	p.P283=	Synonymous	7/14	-
17-9511531-C-A	CFAP52	c.849C>A	p.P283=	Synonymous	7/14	-
17-10358512-G-T	MYH4	c.2275C>A	p.Q759K	Missense	20/40	-
17-12887997-G-T	ARHGAP44	c.2089G>T	p.G697W	Missense	20/21	-
1-162473621-A-T	UHMK1	c.831A>T	p.L277=	Synonymous	4/8	-
1-162473621-A-G	UHMK1	c.831A>G	p.L277=	Synonymous	4/8	-
1-162473621-A-C	UHMK1	c.831A>C	p.L277=	Synonymous	4/8	-
1-162473619-C-T	UHMK1	c.829C>T	p.L277=	Synonymous	4/8	-
1-230796509-C-T	COG2	c.240C>T	p.G80=	Synonymous	3/18	-
1-230796509-C-G	COG2	c.240C>G	p.G80=	Synonymous	3/18	-
1-230796509-C-A	COG2	c.240C>A	p.G80=	Synonymous	3/18	-
4-8608596-C-A	CPZ	c.1039C>A	p.P347T	Missense	6/11	-
9-35722176-G-T	TLN1	c.888C>A	p.V296=	Synonymous	9/57	-
9-35722176-G-C	TLN1	c.888C>G	p.V296=	Synonymous	9/57	-
9-35722176-G-A	TLN1	c.888C>T	p.V296=	Synonymous	9/57	-
9-70428848-G-C	FOXD4L4	c.52C>G	p.R18G	Missense	1/1	-
9-35722191-C-T	TLN1	c.873G>A	p.E291=	Synonymous	9/57	-
6-170876042-C-A	TBP	c.622C>A	p.R208=	Synonymous	5/8	-
6-170876044-A-C	TBP	c.624A>C	p.R208=	Synonymous	5/8	-
6-170876044-A-G	TBP	c.624A>G	p.R208=	Synonymous	5/8	-
6-170876044-A-T	TBP	c.624A>T	p.R208=	Synonymous	5/8	-
8-22424349-G-A	SORBS3	c.1158G>A	p.R386=	Synonymous	15/21	-
8-22424347-A-C	SORBS3	c.1156A>C	p.R386=	Synonymous	15/21	-
15-91025309-T-C	IQGAP1	c.3447T>C	p.I1149=	Synonymous	27/38	-
15-91025309-T-A	IQGAP1	c.3447T>A	p.I1149=	Synonymous	27/38	-
X-53575217-G-A	HUWE1	c.10053C>T	p.F3351=	Synonymous	68/84	-
X-70753182-C-T	OGT	c.33C>T	p.S11=	Synonymous	1/22	-
14-51376765-C-A	PYGL	c.2025G>T	p.S675=	Synonymous	17/20	-
14-51376765-C-G	PYGL	c.2025G>C	p.S675=	Synonymous	17/20	-
14-51376765-C-T	PYGL	c.2025G>A	p.S675=	Synonymous	17/20	-
17-3917786-G-T	ZZEF1	c.8169C>A	p.A2723=	Synonymous	50/55	-
17-3917786-G-C	ZZEF1	c.8169C>G	p.A2723=	Synonymous	50/55	-
17-3917786-G-A	ZZEF1	c.8169C>T	p.A2723=	Synonymous	50/55	-
1-45271018-T-A	PLK3	c.1716T>A	p.A572=	Synonymous	14/15	-
1-45271018-T-C	PLK3	c.1716T>C	p.A572=	Synonymous	14/15	-
1-45271018-T-G	PLK3	c.1716T>G	p.A572=	Synonymous	14/15	-
1-44079362-C-T	PTPRF	c.4047C>T	p.G1349=	Synonymous	23/34	-
1-44079362-C-G	PTPRF	c.4047C>G	p.G1349=	Synonymous	23/34	-
1-44079362-C-A	PTPRF	c.4047C>A	p.G1349=	Synonymous	23/34	-
4-169931126-C-T	CBR4	c.115G>A	p.A39T	Missense	1/5	-
X-114424369-C-A	RBMXL3	c.365C>A	p.P122H	Missense	1/1	-
16-30104079-C-T	YPEL3	c.426G>A	p.K142=	Synonymous	4/4	-
17-7469054-C-T	SENP3	c.1236C>T	p.D412=	Synonymous	6/12	-
17-48158742-C-T	ITGA3	c.2889C>T	p.P963=	Synonymous	23/26	-
17-48158742-C-G	ITGA3	c.2889C>G	p.P963=	Synonymous	23/26	-
17-48158742-C-A	ITGA3	c.2889C>A	p.P963=	Synonymous	23/26	-
11-117090430-C-T	PCSK7	c.1200G>A	p.E400=	Synonymous	10/17	-
18-12095200-C-T	ANKRD62	c.249C>T	p.G83=	Synonymous	2/14	-
18-12095200-C-G	ANKRD62	c.249C>G	p.G83=	Synonymous	2/14	-
18-12095200-C-A	ANKRD62	c.249C>A	p.G83=	Synonymous	2/14	-
19-40398472-G-A	FCGBP	c.6495C>T	p.D2165=	Synonymous	14/36	-
15-91025297-T-C	IQGAP1	c.3435T>C	p.F1145=	Synonymous	27/38	-
22-18301254-C-A	MICAL3	c.4173G>T	p.L1391=	Synonymous	26/32	-
22-18301254-C-G	MICAL3	c.4173G>C	p.L1391=	Synonymous	26/32	-
22-18301256-G-A	MICAL3	c.4171C>T	p.L1391=	Synonymous	26/32	-
5-14751340-A-G	ANKH	c.525T>C	p.F175=	Synonymous	5/12	-
7-35674900-C-A	HERPUD2	c.786G>T	p.Q262H	Missense	7/9	-
7-35674900-C-G	HERPUD2	c.786G>C	p.Q262H	Missense	7/9	-
8-86121584-C-A	E2F5	c.823C>A	p.Q275K	Missense	6/8	-
5-140605130-TC-CT	PCDHB14	c.2053_2054delTCinsCT	p.S685L	Missense	1/1	-
5-140712565-C-A	PCDHGA1	c.2314C>A	p.Q772K	Missense	1/4	-
1-32800665-A-T	MARCKSL1	c.121T>A	p.S41T	Missense	2/2	-
1-40542556-G-T	PPT1	c.756C>A	p.A252=	Synonymous	8/9	-
1-40542556-G-C	PPT1	c.756C>G	p.A252=	Synonymous	8/9	-
1-40542556-G-A	PPT1	c.756C>T	p.A252=	Synonymous	8/9	-
1-45271033-T-C	PLK3	c.1731T>C	p.F577=	Synonymous	14/15	-
X-53407969-A-G	SMC1A	c.3477T>C	p.D1159=	Synonymous	23/25	-
1-116941389-A-T	ATP1A1	c.2271A>T	p.S757=	Synonymous	16/23	-
1-116941389-A-G	ATP1A1	c.2271A>G	p.S757=	Synonymous	16/23	-
1-116941389-A-C	ATP1A1	c.2271A>C	p.S757=	Synonymous	16/23	-
17-18145889-C-A	LLGL1	c.3063C>A	p.T1021=	Synonymous	21/23	-
17-18145889-C-G	LLGL1	c.3063C>G	p.T1021=	Synonymous	21/23	-
17-18145889-C-T	LLGL1	c.3063C>T	p.T1021=	Synonymous	21/23	-
12-93804583-G-A	UBE2N	c.345C>T	p.P115=	Synonymous	3/4	-
12-93804583-G-C	UBE2N	c.345C>G	p.P115=	Synonymous	3/4	-
12-93804583-G-T	UBE2N	c.345C>A	p.P115=	Synonymous	3/4	-
12-26383725-C-G	SSPN	c.448C>G	p.L150V	Missense	3/3	-
16-68729695-C-A	CDH3	c.2149C>A	p.Q717K	Missense	15/16	-
1-244217365-C-G	ZBTB18	c.289C>G	p.Q97E	Missense	2/2	-
17-48263162-T-C	COL1A1	c.4225A>G	p.S1409G	Missense	50/51	-
17-38447820-G-T	CDC6	c.560G>T	p.R187M	Missense	4/12	-
13-21563202-T-G	LATS2	c.717A>C	p.V239=	Synonymous	4/8	-
13-21563202-T-C	LATS2	c.717A>G	p.V239=	Synonymous	4/8	-
13-21563202-T-A	LATS2	c.717A>T	p.V239=	Synonymous	4/8	-
13-21562767-C-A	LATS2	c.1152G>T	p.P384=	Synonymous	4/8	-
13-21562767-C-T	LATS2	c.1152G>A	p.P384=	Synonymous	4/8	-
13-21562767-C-G	LATS2	c.1152G>C	p.P384=	Synonymous	4/8	-
14-67805427-C-A	ATP6V1D	c.655G>T	p.D219Y	Missense	9/9	-
12-123345255-C-A	HIP1R	c.2690C>A	p.T897K	Missense	28/32	-
14-89178819-C-A	EML5	c.1453G>T	p.E485*	Nonsense	10/44	-
17-58284478-T-C	USP32	c.2941A>G	p.N981D	Missense	25/34	-
14-81955613-C-A	SEL1L	c.1378G>T	p.G460W	Missense	14/21	-
17-74340808-A-T	PRPSAP1	c.234T>A	p.V78=	Synonymous	3/10	-
17-74340808-A-G	PRPSAP1	c.234T>C	p.V78=	Synonymous	3/10	-
17-74340808-A-C	PRPSAP1	c.234T>G	p.V78=	Synonymous	3/10	-
15-52476805-C-A	GNB5	c.69G>T	p.L23=	Synonymous	2/13	-
15-52476805-C-T	GNB5	c.69G>A	p.L23=	Synonymous	2/13	-
15-52476805-C-G	GNB5	c.69G>C	p.L23=	Synonymous	2/13	-
15-52476807-G-A	GNB5	c.67C>T	p.L23=	Synonymous	2/13	-
13-33268370-G-T	PDS5B	c.1480G>T	p.E494*	Nonsense	14/35	-
14-92488075-G-T	TRIP11	c.413C>A	p.P138Q	Missense	4/21	-
16-30727429-G-T	SRCAP	c.2536G>T	p.E846*	Nonsense	17/34	-
1-182909514-C-G	SHCBP1L	c.720G>C	p.E240D	Missense	3/10	-
1-182909514-C-A	SHCBP1L	c.720G>T	p.E240D	Missense	3/10	-
16-29896961-C-A	SEZ6L2	c.1318G>T	p.E440*	Nonsense	8/18	-
17-8732247-T-C	PIK3R6	c.950A>G	p.E317G	Missense	11/21	-
19-12807384-G-A	FBXW9	c.12C>T	p.P4=	Synonymous	1/10	-
19-12807384-G-C	FBXW9	c.12C>G	p.P4=	Synonymous	1/10	-
19-12807384-G-T	FBXW9	c.12C>A	p.P4=	Synonymous	1/10	-
19-14829631-C-A	ZNF333	c.1492C>A	p.R498=	Synonymous	12/12	-
19-14829633-A-C	ZNF333	c.1494A>C	p.R498=	Synonymous	12/12	-
19-14829633-A-G	ZNF333	c.1494A>G	p.R498=	Synonymous	12/12	-
19-14829633-A-T	ZNF333	c.1494A>T	p.R498=	Synonymous	12/12	-
19-20308398-C-T	ZNF486	c.879C>T	p.P293=	Synonymous	4/4	-
19-20308398-C-G	ZNF486	c.879C>G	p.P293=	Synonymous	4/4	-
19-20308398-C-A	ZNF486	c.879C>A	p.P293=	Synonymous	4/4	-
19-36641893-G-A	COX7A1	c.231C>T	p.P77=	Synonymous	4/4	-
19-36641893-G-C	COX7A1	c.231C>G	p.P77=	Synonymous	4/4	-
19-36641893-G-T	COX7A1	c.231C>A	p.P77=	Synonymous	4/4	-
19-40903469-C-A	PRX	c.790G>T	p.G264C	Missense	7/7	-
19-42910493-T-C	LIPE	c.2185A>G	p.N729D	Missense	7/10	-
19-45448082-G-C	APOC4	c.153G>C	p.R51S	Missense	2/3	-
19-45448082-G-T	APOC4	c.153G>T	p.R51S	Missense	2/3	-
19-53994105-G-T	ZNF813	c.619G>T	p.E207*	Nonsense	4/4	-
2-27464800-T-C	CAD	c.5905T>C	p.F1969L	Missense	39/44	-
2-27464802-C-A	CAD	c.5907C>A	p.F1969L	Missense	39/44	-
2-27464802-C-G	CAD	c.5907C>G	p.F1969L	Missense	39/44	-
2-33622230-C-A	LTBP1	c.4865C>A	p.A1622D	Missense	33/34	-
2-55831196-C-A	PPP4R3B	c.215G>T	p.W72L	Missense	3/17	-
2-71043483-G-T	CLEC4F	c.1030C>A	p.Q344K	Missense	4/7	-
2-97482087-G-T	CNNM3	c.73G>T	p.G25W	Missense	1/8	-
2-136575055-G-A	LCT	c.1563C>T	p.D521=	Synonymous	6/17	-
2-176987876-C-A	HOXD9	c.380C>A	p.P127Q	Missense	1/2	-
13-32799132-G-T	FRY	c.4979G>T	p.W1660L	Missense	38/61	-
17-73498434-C-A	CASKIN2	c.2721G>T	p.L907=	Synonymous	18/20	-
17-73498434-C-T	CASKIN2	c.2721G>A	p.L907=	Synonymous	18/20	-
17-73498434-C-G	CASKIN2	c.2721G>C	p.L907=	Synonymous	18/20	-
17-73498436-G-A	CASKIN2	c.2719C>T	p.L907=	Synonymous	18/20	-
17-57941177-G-A	TUBD1	c.1107C>T	p.S369=	Synonymous	8/9	-
17-57941177-G-C	TUBD1	c.1107C>G	p.S369=	Synonymous	8/9	-
17-57941177-G-T	TUBD1	c.1107C>A	p.S369=	Synonymous	8/9	-
2-179408064-G-T	TTN	c.96636C>A	p.V32212=	Synonymous	347/363	-
2-179408064-G-C	TTN	c.96636C>G	p.V32212=	Synonymous	347/363	-
2-179408064-G-A	TTN	c.96636C>T	p.V32212=	Synonymous	347/363	-
2-179431543-C-A	TTN	c.79316G>T	p.R26439L	Missense	326/363	-
2-179546103-C-G	TTN	c.33247G>C	p.V11083L	Missense	137/363	-
2-179546103-C-A	TTN	c.33247G>T	p.V11083L	Missense	137/363	-
2-202569217-C-A	ALS2	c.4798G>T	p.D1600Y	Missense	32/34	-
20-2593950-G-T	TMC2	c.1854G>T	p.W618C	Missense	14/20	-
20-2593950-G-C	TMC2	c.1854G>C	p.W618C	Missense	14/20	-
1-223939704-C-A	CAPN2	c.905C>A	p.P302Q	Missense	8/21	-
22-35813838-C-A	MCM5	c.1692C>A	p.A564=	Synonymous	13/17	-
22-35813838-C-G	MCM5	c.1692C>G	p.A564=	Synonymous	13/17	-
22-35813838-C-T	MCM5	c.1692C>T	p.A564=	Synonymous	13/17	-
12-7310606-G-T	CLSTN3	c.2800G>T	p.D934Y	Missense	18/18	-
10-61965608-C-A	ANK3	c.1235G>T	p.R412L	Missense	11/44	-
10-105926370-C-T	CFAP43	c.2915G>A	p.S972N	Missense	23/38	-
10-11911792-GGGCCCCGCAGTGGAGACCCTGGCCCGGGGCCCAGCCACCCGGCGCAGCCCAAGGCACCC-G	PROSER2	c.695_796del102	p.G232Afs*76	InFrameDeletion	4/4	-
10-91222212-G-T	SLC16A12	c.124C>A	p.P42T	Missense	3/8	-
11-65292647-C-A	SCYL1	c.23C>A	p.P8Q	Missense	1/18	-
11-102712932-C-A	MMP3	c.578G>T	p.G193V	Missense	4/10	-
11-126075656-G-T	RPUSD4	c.578C>A	p.P193H	Missense	4/7	-
1-214557539-G-A	PTPN14	c.1659C>T	p.Y553=	Synonymous	13/19	-
11-102650265-G-T	MMP10	c.317C>A	p.P106Q	Missense	2/10	-
11-102953548-C-T	DCUN1D5	c.270G>A	p.A90=	Synonymous	4/8	-
11-102953548-C-G	DCUN1D5	c.270G>C	p.A90=	Synonymous	4/8	-
11-102953548-C-A	DCUN1D5	c.270G>T	p.A90=	Synonymous	4/8	-
11-118461188-G-A	ARCN1	c.951G>A	p.V317=	Synonymous	6/10	-
11-118461188-G-C	ARCN1	c.951G>C	p.V317=	Synonymous	6/10	-
11-118461188-G-T	ARCN1	c.951G>T	p.V317=	Synonymous	6/10	-
12-14689549-C-G	PLBD1	c.654G>C	p.K218N	Missense	5/11	-
12-14689549-C-A	PLBD1	c.654G>T	p.K218N	Missense	5/11	-
12-56216492-A-C	DNAJC14	c.1659T>G	p.P553=	Synonymous	5/7	-
12-56216492-A-T	DNAJC14	c.1659T>A	p.P553=	Synonymous	5/7	-
12-56216492-A-G	DNAJC14	c.1659T>C	p.P553=	Synonymous	5/7	-
12-83289766-A-G	TMTC2	c.824A>G	p.Y275C	Missense	3/12	-
12-92538216-A-G	BTG1	c.156T>C	p.Y52=	Synonymous	2/2	-
13-25914122-A-G	NUP58	c.1650A>G	p.T550=	Synonymous	16/16	-
13-25914122-A-T	NUP58	c.1650A>T	p.T550=	Synonymous	16/16	-
13-25914122-A-C	NUP58	c.1650A>C	p.T550=	Synonymous	16/16	-
15-34519926-A-G	EMC4	c.234A>G	p.K78=	Synonymous	3/5	-
15-34519941-T-C	EMC4	c.249T>C	p.N83=	Synonymous	3/5	-
15-66169800-A-T	RAB11A	c.171A>T	p.G57=	Synonymous	2/5	-
15-66169800-A-G	RAB11A	c.171A>G	p.G57=	Synonymous	2/5	-
15-66169800-A-C	RAB11A	c.171A>C	p.G57=	Synonymous	2/5	-
17-25637183-A-C	WSB1	c.981A>C	p.A327=	Synonymous	7/9	-
17-25637183-A-G	WSB1	c.981A>G	p.A327=	Synonymous	7/9	-
17-25637183-A-T	WSB1	c.981A>T	p.A327=	Synonymous	7/9	-
17-25638613-C-T	WSB1	c.1077C>T	p.F359=	Synonymous	8/9	-
17-26666727-C-A	TNFAIP1	c.180C>A	p.R60=	Synonymous	2/7	-
17-26666727-C-G	TNFAIP1	c.180C>G	p.R60=	Synonymous	2/7	-
17-26666727-C-T	TNFAIP1	c.180C>T	p.R60=	Synonymous	2/7	-
17-61824283-C-G	CCDC47	c.1410G>C	p.K470N	Missense	13/13	-
17-61824283-C-A	CCDC47	c.1410G>T	p.K470N	Missense	13/13	-
19-4422589-C-T	CHAF1A	c.1044C>T	p.L348=	Synonymous	5/15	-
19-4422589-C-G	CHAF1A	c.1044C>G	p.L348=	Synonymous	5/15	-
19-4422589-C-A	CHAF1A	c.1044C>A	p.L348=	Synonymous	5/15	-
2-37208833-C-A	HEATR5B	c.6016G>T	p.A2006S	Missense	36/36	-
2-38973874-T-A	SRSF7	c.588A>T	p.S196=	Synonymous	6/8	-
2-38973874-T-C	SRSF7	c.588A>G	p.S196=	Synonymous	6/8	-
2-38973874-T-G	SRSF7	c.588A>C	p.S196=	Synonymous	6/8	-
2-55155593-C-A	EML6	c.3819C>A	p.T1273=	Synonymous	26/41	-
2-55155593-C-G	EML6	c.3819C>G	p.T1273=	Synonymous	26/41	-
2-55155593-C-T	EML6	c.3819C>T	p.T1273=	Synonymous	26/41	-
2-65318174-G-T	RAB1A	c.231C>A	p.T77=	Synonymous	4/6	-
2-65318174-G-C	RAB1A	c.231C>G	p.T77=	Synonymous	4/6	-
2-85255121-A-G	KCMF1	c.126A>G	p.T42=	Synonymous	2/7	-
2-85255121-A-T	KCMF1	c.126A>T	p.T42=	Synonymous	2/7	-
2-85255121-A-C	KCMF1	c.126A>C	p.T42=	Synonymous	2/7	-
2-85270758-T-G	KCMF1	c.396T>G	p.L132=	Synonymous	4/7	-
2-85270758-T-A	KCMF1	c.396T>A	p.L132=	Synonymous	4/7	-
2-85270758-T-C	KCMF1	c.396T>C	p.L132=	Synonymous	4/7	-
2-216236905-A-C	FN1	c.6441T>G	p.G2147=	Synonymous	40/46	-
2-216236905-A-T	FN1	c.6441T>A	p.G2147=	Synonymous	40/46	-
2-216236905-A-G	FN1	c.6441T>C	p.G2147=	Synonymous	40/46	-
20-30582997-C-T	XKR7	c.711C>T	p.F237=	Synonymous	2/3	-
3-119153693-C-A	TMEM39A	c.1149G>T	p.L383=	Synonymous	8/9	-
3-119153693-C-T	TMEM39A	c.1149G>A	p.L383=	Synonymous	8/9	-
3-119153693-C-G	TMEM39A	c.1149G>C	p.L383=	Synonymous	8/9	-
3-119153695-G-A	TMEM39A	c.1147C>T	p.L383=	Synonymous	8/9	-
3-119153717-A-G	TMEM39A	c.1125T>C	p.N375=	Synonymous	8/9	-
3-142215882-C-A	ATR	c.5711G>T	p.R1904L	Missense	33/47	-
4-186066394-T-C	SLC25A4	c.588T>C	p.D196=	Synonymous	2/4	-
5-133710110-A-C	UBE2B	c.81A>C	p.A27=	Synonymous	2/6	-
5-133710110-A-G	UBE2B	c.81A>G	p.A27=	Synonymous	2/6	-
5-133710110-A-T	UBE2B	c.81A>T	p.A27=	Synonymous	2/6	-
5-140188914-G-A	PCDHA4	c.2142G>A	p.T714=	Synonymous	1/4	-
5-140188914-G-T	PCDHA4	c.2142G>T	p.T714=	Synonymous	1/4	-
5-140188914-G-C	PCDHA4	c.2142G>C	p.T714=	Synonymous	1/4	-
6-27279032-C-G	POM121L2	c.918G>C	p.E306D	Missense	1/1	-
6-27279032-C-A	POM121L2	c.918G>T	p.E306D	Missense	1/1	-
6-134349914-C-A	SLC2A12	c.1049G>T	p.G350V	Missense	2/5	-
1-156305657-G-A	CCT3	c.54C>T	p.S18=	Synonymous	2/14	-
1-156305657-G-C	CCT3	c.54C>G	p.S18=	Synonymous	2/14	-
1-156305657-G-T	CCT3	c.54C>A	p.S18=	Synonymous	2/14	-
1-116943607-A-G	ATP1A1	c.2697A>G	p.E899=	Synonymous	19/23	-
1-176759067-GC-AG	PAPPA2	c.4838_4839delGCinsAG	p.S1613K	Missense	18/23	-
11-57457667-G-A	ZDHHC5	c.549G>A	p.T183=	Synonymous	5/12	-
11-57457667-G-T	ZDHHC5	c.549G>T	p.T183=	Synonymous	5/12	-
11-57457667-G-C	ZDHHC5	c.549G>C	p.T183=	Synonymous	5/12	-
8-63998527-C-A	TTPA	c.54G>T	p.P18=	Synonymous	1/5	-
8-63998527-C-T	TTPA	c.54G>A	p.P18=	Synonymous	1/5	-
8-63998527-C-G	TTPA	c.54G>C	p.P18=	Synonymous	1/5	-
1-161494644-C-T	HSPA6	c.196C>T	p.H66Y	Missense	1/1	-
11-57457637-C-T	ZDHHC5	c.519C>T	p.Y173=	Synonymous	5/12	-
10-94100530-T-A	MARCHF5	c.339T>A	p.A113=	Synonymous	3/6	-
10-94100530-T-C	MARCHF5	c.339T>C	p.A113=	Synonymous	3/6	-
10-94100530-T-G	MARCHF5	c.339T>G	p.A113=	Synonymous	3/6	-
11-65830581-A-G	SF3B2	c.2079A>G	p.E693=	Synonymous	17/22	-
10-17275600-G-A	VIM	c.639G>A	p.A213=	Synonymous	4/10	-
10-17275600-G-C	VIM	c.639G>C	p.A213=	Synonymous	4/10	-
10-17275600-G-T	VIM	c.639G>T	p.A213=	Synonymous	4/10	-
1-154523463-T-C	UBE2Q1	c.1188A>G	p.T396=	Synonymous	12/13	-
1-154523463-T-A	UBE2Q1	c.1188A>T	p.T396=	Synonymous	12/13	-
1-154523463-T-G	UBE2Q1	c.1188A>C	p.T396=	Synonymous	12/13	-
10-105037184-C-T	INA	c.216C>T	p.S72=	Synonymous	1/3	-
10-105037184-C-G	INA	c.216C>G	p.S72=	Synonymous	1/3	-
10-105037184-C-A	INA	c.216C>A	p.S72=	Synonymous	1/3	-
11-78369160-C-A	TENM4	c.8253G>T	p.L2751=	Synonymous	34/34	-
11-78369160-C-T	TENM4	c.8253G>A	p.L2751=	Synonymous	34/34	-
11-78369160-C-G	TENM4	c.8253G>C	p.L2751=	Synonymous	34/34	-
11-78369162-G-A	TENM4	c.8251C>T	p.L2751=	Synonymous	34/34	-
12-6125281-G-A	VWF	c.5429C>T	p.A1810V	Missense	31/52	-
12-15713145-T-A	PTPRO	c.2646T>A	p.A882=	Synonymous	17/27	-
12-15713145-T-C	PTPRO	c.2646T>C	p.A882=	Synonymous	17/27	-
12-15713145-T-G	PTPRO	c.2646T>G	p.A882=	Synonymous	17/27	-
10-105037179-G-A	INA	c.211G>A	p.A71T	Missense	1/3	-
12-43833516-A-G	ADAMTS20	c.2502T>C	p.H834=	Synonymous	18/39	-
12-123647665-C-G	MPHOSPH9	c.2925G>C	p.M975I	Missense	20/24	-
12-123647665-C-T	MPHOSPH9	c.2925G>A	p.M975I	Missense	20/24	-
12-123647665-C-A	MPHOSPH9	c.2925G>T	p.M975I	Missense	20/24	-
13-45523895-C-G	NUFIP1	c.1100G>C	p.S367T	Missense	8/10	-
1-79387425-G-T	ADGRL4	c.1130C>A	p.P377H	Missense	9/15	-
13-107145586-C-A	EFNB2	c.804G>T	p.S268=	Synonymous	5/5	-
13-107145586-C-G	EFNB2	c.804G>C	p.S268=	Synonymous	5/5	-
10-98303915-G-A	TM9SF3	c.1103C>T	p.A368V	Missense	9/15	-
13-114188481-C-A	TMCO3	c.1465C>A	p.L489M	Missense	9/13	-
14-21553917-C-A	ARHGEF40	c.4030C>A	p.R1344=	Synonymous	19/24	-
14-21553919-G-A	ARHGEF40	c.4032G>A	p.R1344=	Synonymous	19/24	-
14-21553919-G-C	ARHGEF40	c.4032G>C	p.R1344=	Synonymous	19/24	-
18-2656203-G-A	SMCHD1	c.129G>A	p.R43=	Synonymous	1/48	-
14-21553919-G-T	ARHGEF40	c.4032G>T	p.R1344=	Synonymous	19/24	-
15-101433210-C-A	ALDH1A3	c.536C>A	p.P179Q	Missense	5/13	-
16-1703076-T-C	CRAMP1	c.956T>C	p.L319P	Missense	8/21	-
16-3025434-C-A	PKMYT1	c.758G>T	p.G253V	Missense	4/9	-
17-1456379-C-A	PITPNA	c.116G>T	p.G39V	Missense	3/12	-
13-45517709-T-C	NUFIP1	c.1239A>G	p.R413=	Synonymous	9/10	-
13-45517711-T-G	NUFIP1	c.1237A>C	p.R413=	Synonymous	9/10	-
1-51204563-G-A	FAF1	c.523C>T	p.P175S	Missense	6/19	-
17-8158935-C-A	PFAS	c.500C>A	p.P167Q	Missense	5/28	-
17-26875676-T-C	UNC119	c.268A>G	p.R90G	Missense	2/5	-
17-29654788-C-A	NF1	c.5540C>A	p.P1847Q	Missense	38/58	-
17-40761339-C-T	RETREG3	c.4G>A	p.A2T	Missense	1/9	-
17-73126683-C-T	NT5C	c.506G>A	p.R169Q	Missense	5/5	-
17-76570805-A-T	DNAH17	c.335T>A	p.V112E	Missense	2/81	-
18-2656201-C-A	SMCHD1	c.127C>A	p.R43=	Synonymous	1/48	-
18-2656203-G-C	SMCHD1	c.129G>C	p.R43=	Synonymous	1/48	-
18-2656203-G-T	SMCHD1	c.129G>T	p.R43=	Synonymous	1/48	-
19-2217058-T-C	DOT1L	c.2513T>C	p.L838S	Missense	21/28	-
19-5587396-G-A	SAFB2	c.2720C>T	p.A907V	Missense	21/21	-
19-15564137-C-T	RASAL3	c.2451G>A	p.T817=	Synonymous	15/18	-
19-15564137-C-A	RASAL3	c.2451G>T	p.T817=	Synonymous	15/18	-
19-15564137-C-G	RASAL3	c.2451G>C	p.T817=	Synonymous	15/18	-
19-34003629-G-A	PEPD	c.71C>T	p.A24V	Missense	2/15	-
19-36341929-G-A	NPHS1	c.460C>T	p.Q154*	Nonsense	4/29	-
19-37240536-C-A	ZNF850	c.1406G>T	p.R469L	Missense	5/5	-
19-45575113-C-A	ZNF296	c.1174G>T	p.G392W	Missense	3/3	-
19-45790807-G-A	MARK4	c.1379G>A	p.S460N	Missense	13/17	-
19-46998129-G-A	PNMA8B	c.594C>T	p.S198=	Synonymous	1/1	-
19-46998129-G-C	PNMA8B	c.594C>G	p.S198=	Synonymous	1/1	-
19-46998129-G-T	PNMA8B	c.594C>A	p.S198=	Synonymous	1/1	-
19-47548453-G-T	NPAS1	c.1317G>T	p.P439=	Synonymous	12/12	-
19-47548453-G-C	NPAS1	c.1317G>C	p.P439=	Synonymous	12/12	-
2-10101264-T-C	GRHL1	c.368T>C	p.V123A	Missense	4/16	-
2-26999240-G-A	SLC35F6	c.536G>A	p.G179E	Missense	5/6	-
1-86959932-C-T	CLCA1	c.1743C>T	p.S581=	Synonymous	11/14	-
1-86959932-C-G	CLCA1	c.1743C>G	p.S581=	Synonymous	11/14	-
1-86959932-C-A	CLCA1	c.1743C>A	p.S581=	Synonymous	11/14	-
2-61719857-C-A	XPO1	c.1411G>T	p.D471Y	Missense	14/25	-
2-233323746-T-C	ALPI	c.1477T>C	p.C493R	Missense	11/11	-
20-853619-C-A	ANGPT4	c.1496G>T	p.R499L	Missense	9/9	-
1-50886913-C-A	DMRTA2	c.296G>T	p.C99F	Missense	2/3	-
20-2596783-C-A	TMC2	c.1873C>A	p.P625T	Missense	15/20	-
20-40042084-C-A	CHD6	c.7011G>T	p.S2337=	Synonymous	35/37	-
20-40042084-C-G	CHD6	c.7011G>C	p.S2337=	Synonymous	35/37	-
20-40042084-C-T	CHD6	c.7011G>A	p.S2337=	Synonymous	35/37	-
20-51871243-G-T	TSHZ2	c.1246G>T	p.G416W	Missense	2/3	-
21-34889393-T-A	GART	c.2010A>T	p.L670=	Synonymous	16/22	-
21-34889393-T-C	GART	c.2010A>G	p.L670=	Synonymous	16/22	-
21-34889393-T-G	GART	c.2010A>C	p.L670=	Synonymous	16/22	-
21-34889395-G-A	GART	c.2008C>T	p.L670=	Synonymous	16/22	-
3-19436752-G-C	KCNH8	c.1126G>C	p.V376L	Missense	7/16	-
3-48500853-G-A	ATRIP	c.925G>A	p.G309S	Missense	6/13	-
3-48626177-C-A	COL7A1	c.2485G>T	p.A829S	Missense	20/119	-
3-52257057-G-A	TLR9	c.1275C>T	p.N425=	Synonymous	2/2	-
10-88696651-G-C	MMRN2	c.2699C>G	p.T900S	Missense	7/7	-
10-88696652-T-A	MMRN2	c.2698A>T	p.T900S	Missense	7/7	-
3-57545440-C-G	PDE12	c.1539C>G	p.S513R	Missense	3/3	-
3-57545440-C-A	PDE12	c.1539C>A	p.S513R	Missense	3/3	-
3-57545438-A-C	PDE12	c.1537A>C	p.S513R	Missense	3/3	-
10-79737339-G-A	POLR3A	c.4070C>T	p.T1357I	Missense	31/31	-
3-112358085-A-C	CCDC80	c.668T>G	p.M223R	Missense	2/8	-
3-132350248-G-T	ACAD11	c.778C>A	p.L260M	Missense	6/20	-
3-142281503-T-A	ATR	c.741A>T	p.L247=	Synonymous	4/47	-
3-142281503-T-C	ATR	c.741A>G	p.L247=	Synonymous	4/47	-
3-142281503-T-G	ATR	c.741A>C	p.L247=	Synonymous	4/47	-
1-208218035-T-C	PLXNA2	c.3692A>G	p.D1231G	Missense	20/32	-
1-160129244-T-C	ATP1A4	c.706T>C	p.S236P	Missense	6/22	-
10-70451004-T-G	TET1	c.5844T>G	p.S1948=	Synonymous	12/12	-
10-70451004-T-C	TET1	c.5844T>C	p.S1948=	Synonymous	12/12	-
10-70451004-T-A	TET1	c.5844T>A	p.S1948=	Synonymous	12/12	-
1-215792524-C-A	KCTD3	c.1777C>A	p.L593I	Missense	17/18	-
4-77660408-G-A	SHROOM3	c.1082G>A	p.W361*	Nonsense	5/11	-
4-77660409-G-A	SHROOM3	c.1083G>A	p.W361*	Nonsense	5/11	-
12-9316801-C-A	PZP	c.2542G>T	p.G848*	Nonsense	20/36	-
16-30370626-C-A	TBC1D10B	c.1509G>T	p.P503=	Synonymous	7/9	-
16-30370626-C-T	TBC1D10B	c.1509G>A	p.P503=	Synonymous	7/9	-
16-30370626-C-G	TBC1D10B	c.1509G>C	p.P503=	Synonymous	7/9	-
16-68260297-C-A	NFATC3	c.3151C>A	p.Q1051K	Missense	10/10	-
16-77334251-G-C	ADAMTS18	c.2583C>G	p.P861=	Synonymous	17/23	-
16-77334251-G-T	ADAMTS18	c.2583C>A	p.P861=	Synonymous	17/23	-
17-8049432-C-A	PER1	c.2062G>T	p.G688W	Missense	17/23	-
17-12899086-G-T	ELAC2	c.1742C>A	p.P581H	Missense	19/24	-
17-27802788-G-T	TAOK1	c.305G>T	p.W102L	Missense	4/20	-
17-33266668-C-A	CCT6B	c.1033G>T	p.G345*	Nonsense	9/14	-
17-37343117-G-A	CACNB1	c.480C>T	p.P160=	Synonymous	5/14	-
17-37343117-G-C	CACNB1	c.480C>G	p.P160=	Synonymous	5/14	-
17-37343117-G-T	CACNB1	c.480C>A	p.P160=	Synonymous	5/14	-
17-38140724-C-A	PSMD3	c.398C>A	p.P133H	Missense	2/12	-
17-38323820-C-A	CASC3	c.1606C>A	p.P536T	Missense	9/14	-
17-39659054-A-C	KRT13	c.908T>G	p.L303R	Missense	5/8	-
17-46700490-G-A	HOXB9	c.525C>T	p.P175=	Synonymous	2/2	-
17-46700490-G-C	HOXB9	c.525C>G	p.P175=	Synonymous	2/2	-
17-46700490-G-T	HOXB9	c.525C>A	p.P175=	Synonymous	2/2	-
18-7044804-C-A	LAMA1	c.893G>T	p.G298V	Missense	7/63	-
2-189850436-G-T	COL3A1	c.379G>T	p.G127*	Nonsense	4/51	-
18-33689656-C-A	SLC39A6	c.2168G>T	p.G723V	Missense	10/10	-
19-2251915-C-A	AMH	c.1642C>A	p.H548N	Missense	5/5	-
1-244724286-A-C	CATSPERE	c.1346A>C	p.H449P	Missense	10/22	-
19-11917454-C-A	ZNF491	c.686C>A	p.S229Y	Missense	3/3	-
19-19766250-G-T	ATP13A1	c.1409C>A	p.P470H	Missense	11/26	-
1-235909735-T-G	LYST	c.7873A>C	p.R2625=	Synonymous	29/53	-
1-146740450-C-A	CHD1L	c.998C>A	p.P333Q	Missense	10/23	-
1-214170305-C-A	PROX1	c.427C>A	p.P143T	Missense	2/5	-
11-13031443-A-C	RASSF10	c.320A>C	p.K107T	Missense	1/1	-
1-146737647-G-A	CHD1L	c.796G>A	p.V266I	Missense	8/23	-
14-102493033-G-T	DYNC1H1	c.8760G>T	p.L2920=	Synonymous	44/78	-
14-102493033-G-A	DYNC1H1	c.8760G>A	p.L2920=	Synonymous	44/78	-
14-102493033-G-C	DYNC1H1	c.8760G>C	p.L2920=	Synonymous	44/78	-
14-102493031-C-T	DYNC1H1	c.8758C>T	p.L2920=	Synonymous	44/78	-
14-104515982-C-A	TDRD9	c.4012C>A	p.P1338T	Missense	35/36	-
10-105882835-C-G	SFR1	c.126C>G	p.S42=	Synonymous	2/4	-
10-105882835-C-A	SFR1	c.126C>A	p.S42=	Synonymous	2/4	-
10-75562734-G-T	NDST2	c.2419C>A	p.L807I	Missense	13/15	-
19-57642080-G-C	USP29	c.2037G>C	p.E679D	Missense	4/4	-
19-57642080-G-T	USP29	c.2037G>T	p.E679D	Missense	4/4	-
10-17818137-T-C	TMEM236	c.440T>C	p.L147P	Missense	3/4	-
19-57766052-C-A	ZNF805	c.1865C>A	p.P622Q	Missense	4/4	-
2-25314225-C-T	EFR3B	c.39C>T	p.P13=	Synonymous	2/23	-
2-25314225-C-G	EFR3B	c.39C>G	p.P13=	Synonymous	2/23	-
2-25314225-C-A	EFR3B	c.39C>A	p.P13=	Synonymous	2/23	-
2-25355873-GGC-TGG	EFR3B	c.1249_1251delGGCinsTGG	p.G417W	Missense	11/23	-
2-98996799-C-A	CNGA3	c.377C>A	p.P126Q	Missense	4/8	-
16-68225556-A-G	NFATC3	c.2984A>G	p.H995R	Missense	9/10	-
11-62189820-G-T	SCGB1A1	c.183G>T	p.Q61H	Missense	2/3	-
11-62189820-G-C	SCGB1A1	c.183G>C	p.Q61H	Missense	2/3	-
3-5214375-C-A	ARL8B	c.322C>A	p.R108=	Synonymous	4/7	-
3-5214377-A-C	ARL8B	c.324A>C	p.R108=	Synonymous	4/7	-
3-5214377-A-G	ARL8B	c.324A>G	p.R108=	Synonymous	4/7	-
3-5214377-A-T	ARL8B	c.324A>T	p.R108=	Synonymous	4/7	-
10-96053361-G-T	PLCE1	c.5132G>T	p.G1711V	Missense	23/33	-
11-117063579-C-A	SIDT2	c.2102C>A	p.S701*	Nonsense	22/26	-
11-118526579-T-C	PHLDB1	c.3970T>C	p.F1324L	Missense	22/23	-
11-118526581-C-A	PHLDB1	c.3972C>A	p.F1324L	Missense	22/23	-
11-118526581-C-G	PHLDB1	c.3972C>G	p.F1324L	Missense	22/23	-
12-124827700-G-T	NCOR2	c.4787C>A	p.P1596Q	Missense	35/49	-
11-77378264-G-T	RSF1	c.4024C>A	p.R1342=	Synonymous	16/16	-
11-77378262-C-T	RSF1	c.4026G>A	p.R1342=	Synonymous	16/16	-
11-77378262-C-G	RSF1	c.4026G>C	p.R1342=	Synonymous	16/16	-
11-77378262-C-A	RSF1	c.4026G>T	p.R1342=	Synonymous	16/16	-
12-9096500-C-A	M6PR	c.350G>T	p.W117L	Missense	4/7	-
20-3680098-G-A	SIGLEC1	c.1537C>T	p.L513F	Missense	8/22	-
11-5020762-C-A	OR51L1	c.550C>A	p.Q184K	Missense	3/3	-
12-123746310-T-G	CDK2AP1	c.321A>C	p.A107=	Synonymous	4/4	-
12-123746310-T-C	CDK2AP1	c.321A>G	p.A107=	Synonymous	4/4	-
12-123746310-T-A	CDK2AP1	c.321A>T	p.A107=	Synonymous	4/4	-
21-19687571-G-T	TMPRSS15	c.1924C>A	p.P642T	Missense	17/25	-
20-30897918-C-A	KIF3B	c.338C>A	p.P113H	Missense	2/9	-
13-27333803-C-A	GPR12	c.162G>T	p.S54=	Synonymous	2/2	-
13-27333803-C-G	GPR12	c.162G>C	p.S54=	Synonymous	2/2	-
13-27333803-C-T	GPR12	c.162G>A	p.S54=	Synonymous	2/2	-
11-3690536-C-A	CHRNA10	c.252G>T	p.Q84H	Missense	3/5	-
11-3690536-C-G	CHRNA10	c.252G>C	p.Q84H	Missense	3/5	-
12-13065392-C-T	GPRC5A	c.993C>T	p.P331=	Synonymous	4/4	-
12-13065392-C-G	GPRC5A	c.993C>G	p.P331=	Synonymous	4/4	-
12-13065392-C-A	GPRC5A	c.993C>A	p.P331=	Synonymous	4/4	-
2-183731138-C-A	FRZB	c.143G>T	p.W48L	Missense	1/6	-
13-103387739-G-T	CCDC168	c.15308C>A	p.P5103Q	Missense	4/4	-
11-94599323-G-C	AMOTL1	c.2478G>C	p.K826N	Missense	11/13	-
11-94599323-G-T	AMOTL1	c.2478G>T	p.K826N	Missense	11/13	-
10-18155657-G-T	MRC1	c.1950G>T	p.W650C	Missense	12/30	-
10-18155657-G-C	MRC1	c.1950G>C	p.W650C	Missense	12/30	-
12-109490553-G-T	USP30	c.70G>T	p.G24W	Missense	1/13	-
14-77931934-C-A	AHSA1	c.614C>A	p.P205H	Missense	6/9	-
20-20349563-C-A	INSM1	c.652C>A	p.P218T	Missense	1/1	-
22-25603066-C-A	CRYBB3	c.523C>A	p.R175=	Synonymous	6/6	-
22-25603068-G-A	CRYBB3	c.525G>A	p.R175=	Synonymous	6/6	-
22-25603068-G-C	CRYBB3	c.525G>C	p.R175=	Synonymous	6/6	-
22-25603068-G-T	CRYBB3	c.525G>T	p.R175=	Synonymous	6/6	-
12-41587967-G-T	PDZRN4	c.820G>T	p.E274*	Nonsense	3/10	-
11-62911212-C-A	SLC22A24	c.40G>T	p.G14W	Missense	1/10	-
2-224463477-C-A	SCG2	c.524G>T	p.R175M	Missense	2/2	-
3-41841676-C-A	ULK4	c.1958G>T	p.W653L	Missense	20/37	-
2-179751540-G-T	CCDC141	c.1466C>A	p.S489Y	Missense	10/24	-
13-37453611-G-A	SMAD9	c.216C>T	p.P72=	Synonymous	2/7	-
13-37453611-G-C	SMAD9	c.216C>G	p.P72=	Synonymous	2/7	-
13-37453611-G-T	SMAD9	c.216C>A	p.P72=	Synonymous	2/7	-
2-189872238-C-A	COL3A1	c.3268C>A	p.P1090T	Missense	45/51	-
11-6560008-C-A	DNHD1	c.3293C>A	p.P1098Q	Missense	16/43	-
11-35232879-C-A	CD44	c.1693C>A	p.P565T	Missense	14/18	-
22-51017920-G-T	CHKB	c.1048C>A	p.H350N	Missense	10/11	-
11-67395562-G-T	NUDT8	c.566C>A	p.A189D	Missense	4/4	-
21-43411223-G-A	ZBTB21	c.2982C>T	p.P994=	Synonymous	3/3	-
21-43411223-G-C	ZBTB21	c.2982C>G	p.P994=	Synonymous	3/3	-
21-43411223-G-T	ZBTB21	c.2982C>A	p.P994=	Synonymous	3/3	-
11-118374122-C-T	KMT2A	c.7515C>T	p.P2505=	Synonymous	27/36	-
11-118374122-C-G	KMT2A	c.7515C>G	p.P2505=	Synonymous	27/36	-
11-118374122-C-A	KMT2A	c.7515C>A	p.P2505=	Synonymous	27/36	-
20-3678617-C-A	SIGLEC1	c.1950G>T	p.G650=	Synonymous	9/22	-
20-3678617-C-T	SIGLEC1	c.1950G>A	p.G650=	Synonymous	9/22	-
20-3678617-C-G	SIGLEC1	c.1950G>C	p.G650=	Synonymous	9/22	-
12-40223919-C-G	SLC2A13	c.1431G>C	p.E477D	Missense	7/10	-
12-40223919-C-A	SLC2A13	c.1431G>T	p.E477D	Missense	7/10	-
12-71918222-G-C	LGR5	c.321G>C	p.K107N	Missense	3/18	-
12-71918222-G-T	LGR5	c.321G>T	p.K107N	Missense	3/18	-
12-52799783-GG-CT	KRT82	c.278_279delCCinsAG	p.T93K	Missense	1/9	-
6-43592773-T-C	GTPBP2	c.732A>G	p.T244=	Synonymous	6/12	-
6-43592773-T-A	GTPBP2	c.732A>T	p.T244=	Synonymous	6/12	-
6-43592773-T-G	GTPBP2	c.732A>C	p.T244=	Synonymous	6/12	-
7-100275403-T-C	GNB2	c.459T>C	p.D153=	Synonymous	7/10	-
7-150839615-C-A	AGAP3	c.2167C>A	p.P723T	Missense	16/18	-
8-6783521-C-G	DEFA6	c.37G>C	p.V13L	Missense	1/2	-
8-6783521-C-A	DEFA6	c.37G>T	p.V13L	Missense	1/2	-
8-95522782-G-T	VIRMA	c.3489C>A	p.R1163=	Synonymous	14/24	-
8-95522782-G-C	VIRMA	c.3489C>G	p.R1163=	Synonymous	14/24	-
9-132720818-G-A	FNBP1	c.360C>T	p.G120=	Synonymous	5/17	-
9-132720818-G-C	FNBP1	c.360C>G	p.G120=	Synonymous	5/17	-
9-132720818-G-T	FNBP1	c.360C>A	p.G120=	Synonymous	5/17	-
X-23801978-G-T	SAT1	c.180G>T	p.P60=	Synonymous	3/6	-
X-23801978-G-A	SAT1	c.180G>A	p.P60=	Synonymous	3/6	-
X-23801978-G-C	SAT1	c.180G>C	p.P60=	Synonymous	3/6	-
1-19467998-C-T	UBR4	c.8331G>A	p.E2777=	Synonymous	57/106	-
1-44778868-A-C	ERI3	c.639T>G	p.G213=	Synonymous	5/9	-
1-44778868-A-T	ERI3	c.639T>A	p.G213=	Synonymous	5/9	-
1-44778868-A-G	ERI3	c.639T>C	p.G213=	Synonymous	5/9	-
1-44778889-A-G	ERI3	c.618T>C	p.I206=	Synonymous	5/9	-
1-44778889-A-T	ERI3	c.618T>A	p.I206=	Synonymous	5/9	-
12-57574568-C-A	LRP1	c.5505C>A	p.V1835=	Synonymous	33/89	-
12-57574568-C-G	LRP1	c.5505C>G	p.V1835=	Synonymous	33/89	-
12-57574568-C-T	LRP1	c.5505C>T	p.V1835=	Synonymous	33/89	-
12-56216219-G-T	DNAJC14	c.1836C>A	p.T612=	Synonymous	6/7	-
12-56216219-G-C	DNAJC14	c.1836C>G	p.T612=	Synonymous	6/7	-
12-56216219-G-A	DNAJC14	c.1836C>T	p.T612=	Synonymous	6/7	-
1-164776896-T-C	PBX1	c.819T>C	p.C273=	Synonymous	5/9	-
10-135345753-G-T	CYP2E1	c.613G>T	p.E205*	Nonsense	4/9	-
11-60666362-G-T	PRPF19	c.1026C>A	p.T342=	Synonymous	12/16	-
11-60666362-G-C	PRPF19	c.1026C>G	p.T342=	Synonymous	12/16	-
11-60666362-G-A	PRPF19	c.1026C>T	p.T342=	Synonymous	12/16	-
11-116654323-C-T	ZPR1	c.904G>A	p.G302R	Missense	10/14	-
11-116654323-C-G	ZPR1	c.904G>C	p.G302R	Missense	10/14	-
11-36458984-T-A	PRR5L	c.402T>A	p.T134=	Synonymous	6/9	-
11-36458984-T-G	PRR5L	c.402T>G	p.T134=	Synonymous	6/9	-
11-36458984-T-C	PRR5L	c.402T>C	p.T134=	Synonymous	6/9	-
12-116408541-A-G	MED13L	c.5925T>C	p.S1975=	Synonymous	27/31	-
12-116408553-A-T	MED13L	c.5913T>A	p.V1971=	Synonymous	27/31	-
12-116408553-A-G	MED13L	c.5913T>C	p.V1971=	Synonymous	27/31	-
12-116408553-A-C	MED13L	c.5913T>G	p.V1971=	Synonymous	27/31	-
14-55836418-C-T	ATG14	c.1398G>A	p.A466=	Synonymous	10/10	-
14-55836418-C-G	ATG14	c.1398G>C	p.A466=	Synonymous	10/10	-
14-55836418-C-A	ATG14	c.1398G>T	p.A466=	Synonymous	10/10	-
17-7414620-C-T	POLR2A	c.3900C>T	p.G1300=	Synonymous	23/29	-
17-7414620-C-G	POLR2A	c.3900C>G	p.G1300=	Synonymous	23/29	-
17-7414620-C-A	POLR2A	c.3900C>A	p.G1300=	Synonymous	23/29	-
16-58077238-C-T	MMP15	c.1428C>T	p.G476=	Synonymous	8/10	-
16-58077238-C-G	MMP15	c.1428C>G	p.G476=	Synonymous	8/10	-
16-58077238-C-A	MMP15	c.1428C>A	p.G476=	Synonymous	8/10	-
17-48270378-C-G	COL1A1	c.1798G>C	p.V600L	Missense	26/51	-
2-54114574-T-G	PSME4	c.4551A>C	p.V1517=	Synonymous	40/47	-
2-54114574-T-C	PSME4	c.4551A>G	p.V1517=	Synonymous	40/47	-
2-54114574-T-A	PSME4	c.4551A>T	p.V1517=	Synonymous	40/47	-
2-54114586-G-A	PSME4	c.4539C>T	p.F1513=	Synonymous	40/47	-
2-192546696-T-C	NABP1	c.255T>C	p.C85=	Synonymous	3/6	-
5-31995693-C-T	PDZD2	c.990C>T	p.G330=	Synonymous	4/25	-
5-31995693-C-G	PDZD2	c.990C>G	p.G330=	Synonymous	4/25	-
5-31995693-C-A	PDZD2	c.990C>A	p.G330=	Synonymous	4/25	-
1-201056970-G-A	CACNA1S	c.988C>T	p.L330=	Synonymous	7/44	-
1-247150895-A-G	ZNF695	c.922T>C	p.F308L	Missense	4/4	-
1-247150893-G-T	ZNF695	c.924C>A	p.F308L	Missense	4/4	-
1-247150893-G-C	ZNF695	c.924C>G	p.F308L	Missense	4/4	-
19-41077988-G-C	SPTBN4	c.7383G>C	p.K2461N	Missense	34/36	-
19-41077988-G-T	SPTBN4	c.7383G>T	p.K2461N	Missense	34/36	-
19-46375371-C-T	FOXA3	c.108C>T	p.P36=	Synonymous	2/2	-
19-46375371-C-G	FOXA3	c.108C>G	p.P36=	Synonymous	2/2	-
19-46375371-C-A	FOXA3	c.108C>A	p.P36=	Synonymous	2/2	-
11-64521031-C-A	PYGM	c.1363G>T	p.G455C	Missense	11/20	-
12-6692233-A-G	CHD4	c.4107T>C	p.A1369=	Synonymous	27/40	-
11-118307620-C-A	KMT2A	c.393C>A	p.A131=	Synonymous	1/36	-
12-6692233-A-C	CHD4	c.4107T>G	p.A1369=	Synonymous	27/40	-
17-45681376-T-G	NPEPPS	c.1836T>G	p.P612=	Synonymous	16/23	-
17-45681376-T-A	NPEPPS	c.1836T>A	p.P612=	Synonymous	16/23	-
17-45681376-T-C	NPEPPS	c.1836T>C	p.P612=	Synonymous	16/23	-
17-48469780-C-T	LRRC59	c.408G>A	p.Q136=	Synonymous	4/7	-
7-150069540-CACCTGCGCCGAGTGCGGGAAGAACTTCGGCAAGAAGACGCACCTGGTGGCGCACTCGCG-C	REPIN1	c.1381_1464del84	p.T461Rfs*177	InFrameDeletion	3/3	-
3-135789376-C-T	PPP2R3A	c.2526C>T	p.H842=	Synonymous	6/14	-
15-34382560-T-C	EMC7	c.453A>G	p.K151=	Synonymous	3/5	-
12-6692233-A-T	CHD4	c.4107T>A	p.A1369=	Synonymous	27/40	-
1-248366904-T-C	OR2M3	c.535T>C	p.C179R	Missense	2/2	-
11-61544902-C-A	MYRF	c.1757C>A	p.P586H	Missense	12/27	-
1-201056968-C-T	CACNA1S	c.990G>A	p.L330=	Synonymous	7/44	-
1-201056968-C-G	CACNA1S	c.990G>C	p.L330=	Synonymous	7/44	-
1-109813173-C-T	CELSR2	c.7434C>T	p.P2478=	Synonymous	24/34	-
1-109813173-C-G	CELSR2	c.7434C>G	p.P2478=	Synonymous	24/34	-
1-109813173-C-A	CELSR2	c.7434C>A	p.P2478=	Synonymous	24/34	-
1-118426168-C-A	GDAP2	c.1189G>T	p.E397*	Nonsense	11/14	-
1-147086354-A-C	BCL9	c.499A>C	p.T167P	Missense	6/10	-
4-106588394-G-T	ARHGEF38	c.1798G>T	p.D600Y	Missense	12/14	-
1-161044527-C-A	NECTIN4	c.874G>T	p.G292W	Missense	5/9	-
1-173840158-G-T	ZBTB37	c.795G>T	p.G265=	Synonymous	3/5	-
1-173840158-G-C	ZBTB37	c.795G>C	p.G265=	Synonymous	3/5	-
1-201056968-C-A	CACNA1S	c.990G>T	p.L330=	Synonymous	7/44	-
5-156908905-G-T	ADAM19	c.2597C>A	p.P866Q	Missense	22/23	-
9-43626781-G-A	SPATA31A6	c.1906C>T	p.P636S	Missense	4/4	-
3-37089087-C-T	MLH1	c.1809C>T	p.P603=	Synonymous	16/19	-
3-37089087-C-G	MLH1	c.1809C>G	p.P603=	Synonymous	16/19	-
3-37089087-C-A	MLH1	c.1809C>A	p.P603=	Synonymous	16/19	-
10-75435724-T-A	AGAP5	c.694A>T	p.S232C	Missense	8/8	-
10-116032656-G-T	VWA2	c.529G>T	p.G177C	Missense	6/14	-
11-18731924-G-T	IGSF22	c.2651C>A	p.P884H	Missense	17/23	-
11-57100207-G-C	SSRP1	c.660C>G	p.P220=	Synonymous	6/17	-
11-57100207-G-T	SSRP1	c.660C>A	p.P220=	Synonymous	6/17	-
11-57886854-G-A	OR9I1	c.63C>T	p.P21=	Synonymous	3/3	-
11-57886854-G-T	OR9I1	c.63C>A	p.P21=	Synonymous	3/3	-
3-42727776-G-C	KLHL40	c.666G>C	p.E222D	Missense	1/6	-
3-42727776-G-T	KLHL40	c.666G>T	p.E222D	Missense	1/6	-
11-67815350-G-A	TCIRG1	c.1465G>A	p.D489N	Missense	13/20	-
4-79786862-C-A	BMP2K	c.1219C>A	p.H407N	Missense	10/16	-
11-108350198-C-A	POGLUT3	c.1123G>T	p.G375W	Missense	6/8	-
4-56428673-G-T	PDCL2	c.469C>A	p.H157N	Missense	5/6	-
11-124623630-G-T	ESAM	c.1085C>A	p.P362H	Missense	7/7	-
5-131676299-C-A	SLC22A4	c.1486C>A	p.L496M	Missense	9/10	-
11-126079475-C-G	RPUSD4	c.498G>C	p.K166N	Missense	3/7	-
11-126079475-C-A	RPUSD4	c.498G>T	p.K166N	Missense	3/7	-
4-159634358-T-C	PPID	c.807A>G	p.Q269=	Synonymous	7/10	-
12-8245515-G-C	NECAP1	c.540G>C	p.R180S	Missense	6/8	-
5-131034623-G-T	FNIP1	c.1189C>A	p.L397I	Missense	11/18	-
12-9265069-G-T	A2M	c.334C>A	p.Q112K	Missense	3/36	-
5-149425143-A-C	HMGXB3	c.2845A>C	p.K949Q	Missense	16/20	-
12-13229076-G-C	FAM234B	c.1641G>C	p.E547D	Missense	11/13	-
12-13229076-G-T	FAM234B	c.1641G>T	p.E547D	Missense	11/13	-
5-139908124-C-T	ANKHD1-EIF4EBP3	c.5593C>T	p.Q1865*	Nonsense	29/36	-
12-86199693-C-A	RASSF9	c.95G>T	p.W32L	Missense	2/2	-
3-52258170-G-A	TLR9	c.162C>T	p.P54=	Synonymous	2/2	-
3-52258170-G-C	TLR9	c.162C>G	p.P54=	Synonymous	2/2	-
3-52258170-G-T	TLR9	c.162C>A	p.P54=	Synonymous	2/2	-
3-48200887-G-T	CDC25A	c.1381C>A	p.P461T	Missense	14/15	-
3-122447334-C-A	PARP14	c.5296C>A	p.P1766T	Missense	17/17	-
4-139937252-C-T	NOCT	c.117C>T	p.P39=	Synonymous	1/3	-
4-139937252-C-G	NOCT	c.117C>G	p.P39=	Synonymous	1/3	-
4-139937252-C-A	NOCT	c.117C>A	p.P39=	Synonymous	1/3	-
4-115856469-C-A	NDST4	c.1429G>T	p.G477W	Missense	6/14	-
4-672554-G-A	MYL5	c.111G>A	p.E37=	Synonymous	2/7	-
5-154214481-C-A	FAXDC2	c.62G>T	p.W21L	Missense	3/9	-
5-172195832-G-T	DUSP1	c.1037C>A	p.P346H	Missense	4/4	-
5-149389690-C-T	HMGXB3	c.329C>T	p.A110V	Missense	4/20	-
6-26598700-A-G	ABT1	c.646A>G	p.T216A	Missense	3/3	-
6-43167735-C-T	CUL9	c.3225C>T	p.L1075=	Synonymous	14/41	-
6-43167735-C-G	CUL9	c.3225C>G	p.L1075=	Synonymous	14/41	-
6-43167735-C-A	CUL9	c.3225C>A	p.L1075=	Synonymous	14/41	-
6-7355320-C-A	CAGE1	c.2323G>T	p.E775*	Nonsense	11/14	-
6-74104819-G-T	DDX43	c.191G>T	p.G64V	Missense	1/17	-
5-176072481-G-T	EIF4E1B	c.578G>T	p.R193M	Missense	8/9	-
6-99282845-G-T	POU3F2	c.96G>T	p.G32=	Synonymous	1/1	-
6-99282845-G-A	POU3F2	c.96G>A	p.G32=	Synonymous	1/1	-
6-99282845-G-C	POU3F2	c.96G>C	p.G32=	Synonymous	1/1	-
8-77618326-C-A	ZFHX4	c.2003C>A	p.P668H	Missense	2/11	-
9-34125122-G-T	DCAF12	c.232C>A	p.L78I	Missense	2/9	-
7-99773462-G-A	GPC2	c.381C>T	p.S127=	Synonymous	3/10	-
7-99773462-G-C	GPC2	c.381C>G	p.S127=	Synonymous	3/10	-
7-99773462-G-T	GPC2	c.381C>A	p.S127=	Synonymous	3/10	-
9-86256466-C-A	IDNK	c.172C>A	p.R58=	Synonymous	4/5	-
9-86256468-G-A	IDNK	c.174G>A	p.R58=	Synonymous	4/5	-
9-86256468-G-C	IDNK	c.174G>C	p.R58=	Synonymous	4/5	-
9-86256468-G-T	IDNK	c.174G>T	p.R58=	Synonymous	4/5	-
7-131096096-G-T	MKLN1	c.735G>T	p.Q245H	Missense	7/18	-
7-131096096-G-C	MKLN1	c.735G>C	p.Q245H	Missense	7/18	-
3-38833638-C-A	SCN10A	c.292G>T	p.G98W	Missense	3/28	-
7-107432336-A-T	SLC26A3	c.321T>A	p.Y107*	Nonsense	4/21	-
7-107432336-A-C	SLC26A3	c.321T>G	p.Y107*	Nonsense	4/21	-
7-100084791-C-T	NYAP1	c.416C>T	p.P139L	Missense	3/7	-
9-125273896-C-A	OR1J2	c.816C>A	p.V272=	Synonymous	1/1	-
9-125273896-C-G	OR1J2	c.816C>G	p.V272=	Synonymous	1/1	-
9-125273896-C-T	OR1J2	c.816C>T	p.V272=	Synonymous	1/1	-
7-138145542-C-T	TRIM24	c.249C>T	p.P83=	Synonymous	1/19	-
7-138145542-C-G	TRIM24	c.249C>G	p.P83=	Synonymous	1/19	-
7-138145542-C-A	TRIM24	c.249C>A	p.P83=	Synonymous	1/19	-
8-29927420-C-A	SARAF	c.438G>T	p.L146=	Synonymous	3/6	-
8-29927420-C-T	SARAF	c.438G>A	p.L146=	Synonymous	3/6	-
8-29927420-C-G	SARAF	c.438G>C	p.L146=	Synonymous	3/6	-
8-29927422-G-A	SARAF	c.436C>T	p.L146=	Synonymous	3/6	-
8-22548284-G-T	EGR3	c.866C>A	p.S289*	Nonsense	2/2	-
5-149417059-G-T	HMGXB3	c.2382G>T	p.L794=	Synonymous	13/20	-
5-149417059-G-A	HMGXB3	c.2382G>A	p.L794=	Synonymous	13/20	-
5-149417059-G-C	HMGXB3	c.2382G>C	p.L794=	Synonymous	13/20	-
5-149417057-C-T	HMGXB3	c.2380C>T	p.L794=	Synonymous	13/20	-
X-64721893-A-G	ZC3H12B	c.1315A>G	p.S439G	Missense	5/5	-
3-48626202-C-A	COL7A1	c.2460G>T	p.Q820H	Missense	20/119	-
3-48626202-C-G	COL7A1	c.2460G>C	p.Q820H	Missense	20/119	-
1-43803867-C-G	MPL	c.177C>G	p.P59=	Synonymous	2/12	-
1-43803867-C-A	MPL	c.177C>A	p.P59=	Synonymous	2/12	-
1-90179690-C-A	LRRC8C	c.1561C>A	p.L521I	Missense	3/3	-
8-95869166-T-G	INTS8	c.1914T>G	p.L638=	Synonymous	15/27	-
7-138967868-T-G	UBN2	c.2217T>G	p.A739=	Synonymous	15/18	-
8-87162443-T-G	ATP6V0D2	c.742T>G	p.Y248D	Missense	6/8	-
7-21641093-T-C	DNAH11	c.3505T>C	p.L1169=	Synonymous	18/82	-
7-21641095-A-G	DNAH11	c.3507A>G	p.L1169=	Synonymous	18/82	-
7-73770932-T-G	CLIP2	c.996T>G	p.G332=	Synonymous	5/17	-
7-73770932-T-A	CLIP2	c.996T>A	p.G332=	Synonymous	5/17	-
7-73770932-T-C	CLIP2	c.996T>C	p.G332=	Synonymous	5/17	-
6-7583117-G-C	DSP	c.5622G>C	p.K1874N	Missense	24/24	-
6-7583117-G-T	DSP	c.5622G>T	p.K1874N	Missense	24/24	-
7-127569369-C-A	SND1	c.1656C>A	p.T552=	Synonymous	15/24	-
7-127569369-C-G	SND1	c.1656C>G	p.T552=	Synonymous	15/24	-
7-127569369-C-T	SND1	c.1656C>T	p.T552=	Synonymous	15/24	-
7-138967868-T-A	UBN2	c.2217T>A	p.A739=	Synonymous	15/18	-
7-138967868-T-C	UBN2	c.2217T>C	p.A739=	Synonymous	15/18	-
8-95869166-T-A	INTS8	c.1914T>A	p.L638=	Synonymous	15/27	-
8-95869166-T-C	INTS8	c.1914T>C	p.L638=	Synonymous	15/27	-
9-19082991-T-C	HAUS6	c.750A>G	p.K250=	Synonymous	8/17	-
9-124929135-C-A	MORN5	c.136C>A	p.L46M	Missense	2/5	-
X-138643867-C-G	F9	c.1023C>G	p.Y341*	Nonsense	8/8	-
1-19478227-T-C	UBR4	c.7123A>G	p.M2375V	Missense	48/106	-
1-42922343-G-A	PPCS	c.107G>A	p.R36Q	Missense	1/3	-
1-45809305-C-A	TOE1	c.1464C>A	p.A488=	Synonymous	8/8	-
1-45809305-C-G	TOE1	c.1464C>G	p.A488=	Synonymous	8/8	-
1-45809305-C-T	TOE1	c.1464C>T	p.A488=	Synonymous	8/8	-
1-55168374-T-A	MROH7	c.3520T>A	p.W1174R	Missense	21/24	-
1-55168374-T-C	MROH7	c.3520T>C	p.W1174R	Missense	21/24	-
1-152777757-T-C	LCE1C	c.198A>G	p.G66=	Synonymous	2/2	-
1-152777757-T-G	LCE1C	c.198A>C	p.G66=	Synonymous	2/2	-
1-158597487-C-A	SPTA1	c.5592G>T	p.L1864F	Missense	40/52	-
10-103906859-T-G	PPRC1	c.4110T>G	p.L1370=	Synonymous	9/14	-
10-103906859-T-A	PPRC1	c.4110T>A	p.L1370=	Synonymous	9/14	-
10-103906859-T-C	PPRC1	c.4110T>C	p.L1370=	Synonymous	9/14	-
11-61096910-G-T	DDB1	c.474C>A	p.R158=	Synonymous	4/27	-
11-61096910-G-C	DDB1	c.474C>G	p.R158=	Synonymous	4/27	-
11-61096910-G-A	DDB1	c.474C>T	p.R158=	Synonymous	4/27	-
12-10167951-G-C	CLEC12B	c.510G>C	p.K170N	Missense	4/6	-
12-10167951-G-T	CLEC12B	c.510G>T	p.K170N	Missense	4/6	-
12-69129032-G-T	NUP107	c.2410G>T	p.G804W	Missense	26/28	-
12-119978507-GC-AG	CCDC60	c.1640_1641delGCinsAG	p.S547K	Missense	14/14	-
13-52548291-C-T	ATP7B	c.1065G>A	p.Q355=	Synonymous	2/21	-
17-2234365-G-C	TSR1	c.1535C>G	p.S512C	Missense	9/15	-
17-78319640-T-C	RNF213	c.7505T>C	p.L2502P	Missense	29/68	-
19-10088367-C-T	COL5A3	c.3029G>A	p.G1010D	Missense	42/67	-
19-36223608-C-G	KMT2B	c.6158C>G	p.P2053R	Missense	28/37	-
2-48026390-T-G	MSH6	c.1268T>G	p.L423R	Missense	4/10	-
22-19839379-T-C	RTL10	c.406A>G	p.I136V	Missense	3/3	-
22-37602678-G-A	SSTR3	c.1165C>T	p.P389S	Missense	2/2	-
3-47452605-C-G	PTPN23	c.3317C>G	p.P1106R	Missense	20/25	-
3-122552263-G-A	SLC49A4	c.803G>A	p.S268N	Missense	4/9	-
3-169540301-A-T	LRRIQ4	c.592A>T	p.N198Y	Missense	1/5	-
4-38798889-C-T	TLR1	c.1564G>A	p.G522R	Missense	4/4	-
5-177690228-C-A	COL23A1	c.620G>T	p.R207M	Missense	9/29	-
6-34003781-G-T	GRM4	c.2106C>A	p.I702=	Synonymous	9/11	-
6-34003781-G-A	GRM4	c.2106C>T	p.I702=	Synonymous	9/11	-
5-141023865-G-T	FCHSD1	c.1783C>A	p.R595S	Missense	17/20	-
6-36689646-C-G	RAB44	c.1735C>G	p.P579A	Missense	9/14	-
6-153043301-C-A	MYCT1	c.621C>A	p.Y207*	Nonsense	2/2	-
6-153043301-C-G	MYCT1	c.621C>G	p.Y207*	Nonsense	2/2	-
5-95234255-C-A	ELL2	c.1214G>T	p.R405L	Missense	8/12	-
7-72277705-T-C	TYW1B	c.677A>G	p.E226G	Missense	5/15	-
7-127222851-C-G	GCC1	c.1545G>C	p.K515N	Missense	2/2	-
7-127222851-C-A	GCC1	c.1545G>T	p.K515N	Missense	2/2	-
9-2718613-G-T	KCNV2	c.874G>T	p.G292C	Missense	1/2	-
X-48923280-C-A	CCDC120	c.965C>A	p.P322H	Missense	9/12	-
X-115572207-G-T	SLC6A14	c.288G>T	p.L96=	Synonymous	3/14	-
X-115572207-G-C	SLC6A14	c.288G>C	p.L96=	Synonymous	3/14	-
X-115572205-C-T	SLC6A14	c.286C>T	p.L96=	Synonymous	3/14	-
10-76994820-G-A	COMTD1	c.445C>T	p.Q149*	Nonsense	4/7	-
10-105005921-C-T	RPEL1	c.168C>T	p.S56=	Synonymous	1/1	-
11-47609603-G-T	FAM180B	c.169G>T	p.G57W	Missense	3/3	-
11-64669500-C-G	ATG2A	c.4053G>C	p.E1351D	Missense	29/41	-
11-64669500-C-A	ATG2A	c.4053G>T	p.E1351D	Missense	29/41	-
6-105281037-C-A	HACE1	c.414G>T	p.L138=	Synonymous	6/24	-
6-105281037-C-T	HACE1	c.414G>A	p.L138=	Synonymous	6/24	-
6-105281037-C-G	HACE1	c.414G>C	p.L138=	Synonymous	6/24	-
6-105281039-G-A	HACE1	c.412C>T	p.L138=	Synonymous	6/24	-
6-89859029-A-G	PM20D2	c.511A>G	p.I171V	Missense	2/7	-
11-64681856-C-T	ATG2A	c.288G>A	p.V96=	Synonymous	2/41	-
11-64681856-C-G	ATG2A	c.288G>C	p.V96=	Synonymous	2/41	-
11-64681856-C-A	ATG2A	c.288G>T	p.V96=	Synonymous	2/41	-
6-109764077-G-T	SMPD2	c.614G>T	p.R205L	Missense	7/10	-
X-48923067-G-T	CCDC120	c.870G>T	p.G290=	Synonymous	8/12	-
X-48923067-G-A	CCDC120	c.870G>A	p.G290=	Synonymous	8/12	-
X-48923067-G-C	CCDC120	c.870G>C	p.G290=	Synonymous	8/12	-
11-47609348-C-A	FAM180B	c.131C>A	p.P44Q	Missense	2/3	-
6-132966329-C-A	TAAR1	c.814G>T	p.V272F	Missense	2/2	-
7-12409304-C-G	VWDE	c.2628G>C	p.E876D	Missense	12/29	-
7-12409304-C-A	VWDE	c.2628G>T	p.E876D	Missense	12/29	-
7-6370312-A-T	FAM220A	c.474T>A	p.H158Q	Missense	2/2	-
7-6370312-A-C	FAM220A	c.474T>G	p.H158Q	Missense	2/2	-
16-31200454-T-C	FUS	c.843T>C	p.N281=	Synonymous	9/15	-
19-35850278-C-T	FFAR3	c.486C>T	p.S162=	Synonymous	2/2	-
19-49950700-G-T	PIH1D1	c.506C>A	p.P169Q	Missense	6/9	-
2-86997239-T-C	RMND5A	c.948T>C	p.D316=	Synonymous	7/9	-
2-179408004-G-A	TTN	c.96696C>T	p.S32232=	Synonymous	347/363	-
3-139092540-A-G	COPB2	c.862T>C	p.L288=	Synonymous	8/22	-
3-139092538-C-T	COPB2	c.864G>A	p.L288=	Synonymous	8/22	-
4-89827604-A-T	FAM13A	c.769T>A	p.Y257N	Missense	6/24	-
5-53409189-C-A	ARL15	c.305G>T	p.G102V	Missense	4/5	-
5-79054706-A-G	CMYA5	c.11241A>G	p.Q3747=	Synonymous	7/13	-
5-90671383-A-G	ARRDC3	c.558T>C	p.C186=	Synonymous	4/8	-
5-118324071-C-T	DTWD2	c.136G>A	p.E46K	Missense	1/6	-
8-22022938-T-C	BMP1	c.20T>C	p.L7P	Missense	1/20	-
9-104500211-C-A	GRIN3A	c.51G>T	p.L17F	Missense	1/9	-
9-104500211-C-G	GRIN3A	c.51G>C	p.L17F	Missense	1/9	-
X-49355321-T-A	GAGE2A	c.68T>A	p.I23N	Missense	2/5	-
11-62363804-C-T	MTA2	c.963G>A	p.R321=	Synonymous	11/18	-
11-62363806-T-G	MTA2	c.961A>C	p.R321=	Synonymous	11/18	-
16-31200538-T-G	FUS	c.927T>G	p.G309=	Synonymous	9/15	-
16-31200538-T-A	FUS	c.927T>A	p.G309=	Synonymous	9/15	-
16-31200538-T-C	FUS	c.927T>C	p.G309=	Synonymous	9/15	-
1-35851772-C-T	ZMYM4	c.1818C>T	p.S606=	Synonymous	11/30	-
X-53241071-T-A	KDM5C	c.1140A>T	p.P380=	Synonymous	9/26	-
X-53241071-T-C	KDM5C	c.1140A>G	p.P380=	Synonymous	9/26	-
X-53241071-T-G	KDM5C	c.1140A>C	p.P380=	Synonymous	9/26	-
16-11981559-A-C	GSPT1	c.825T>G	p.G275=	Synonymous	7/15	-
16-11981559-A-T	GSPT1	c.825T>A	p.G275=	Synonymous	7/15	-
16-11981559-A-G	GSPT1	c.825T>C	p.G275=	Synonymous	7/15	-
X-20193399-A-C	RPS6KA3	c.1110T>G	p.P370=	Synonymous	14/22	-
X-20193399-A-T	RPS6KA3	c.1110T>A	p.P370=	Synonymous	14/22	-
X-20193399-A-G	RPS6KA3	c.1110T>C	p.P370=	Synonymous	14/22	-
12-102113990-T-A	CHPT1	c.738T>A	p.V246=	Synonymous	5/9	-
12-102113990-T-C	CHPT1	c.738T>C	p.V246=	Synonymous	5/9	-
12-102113990-T-G	CHPT1	c.738T>G	p.V246=	Synonymous	5/9	-
X-20193378-A-G	RPS6KA3	c.1131T>C	p.N377=	Synonymous	14/22	-
1-70728492-A-G	ANKRD13C	c.1534T>C	p.F512L	Missense	13/13	-
1-70728490-A-T	ANKRD13C	c.1536T>A	p.F512L	Missense	13/13	-
1-70728490-A-C	ANKRD13C	c.1536T>G	p.F512L	Missense	13/13	-
1-156024734-C-T	LAMTOR2	c.54C>T	p.G18=	Synonymous	1/4	-
1-156024734-C-G	LAMTOR2	c.54C>G	p.G18=	Synonymous	1/4	-
1-156024734-C-A	LAMTOR2	c.54C>A	p.G18=	Synonymous	1/4	-
17-1456411-C-T	PITPNA	c.84G>A	p.E28=	Synonymous	3/12	-
11-64786067-G-A	ARL2	c.201G>A	p.V67=	Synonymous	3/5	-
11-64786067-G-C	ARL2	c.201G>C	p.V67=	Synonymous	3/5	-
11-64786067-G-T	ARL2	c.201G>T	p.V67=	Synonymous	3/5	-
11-66114121-G-C	B4GAT1	c.896C>G	p.T299S	Missense	1/2	-
11-66114122-T-A	B4GAT1	c.895A>T	p.T299S	Missense	1/2	-
1-19401385-A-G	UBR4	c.15493T>C	p.L5165=	Synonymous	106/106	-
1-19401383-T-C	UBR4	c.15495A>G	p.L5165=	Synonymous	106/106	-
6-146261910-C-A	SHPRH	c.2518G>T	p.G840W	Missense	11/30	-
7-6449900-C-A	DAGLB	c.1681G>T	p.G561W	Missense	14/15	-
7-44805804-C-A	ZMIZ2	c.2284C>A	p.P762T	Missense	17/19	-
3-49313983-C-A	C3orf62	c.323G>T	p.C108F	Missense	1/3	-
7-4823395-C-T	AP5Z1	c.587C>T	p.S196F	Missense	5/17	-
3-97593292-C-A	CRYBG3	c.3254C>A	p.S1085Y	Missense	4/22	-
6-167754646-C-A	TTLL2	c.1258C>A	p.L420I	Missense	3/3	-
7-100635886-G-T	MUC12	c.2042G>T	p.G681V	Missense	2/12	-
7-97874252-C-A	TECPR1	c.353G>T	p.W118L	Missense	4/26	-
9-21202135-G-T	IFNA7	c.30C>A	p.V10=	Synonymous	1/1	-
9-21202135-G-C	IFNA7	c.30C>G	p.V10=	Synonymous	1/1	-
8-134232995-G-A	CCN4	c.521G>A	p.S174N	Missense	3/5	-
9-97177454-C-T	MFSD14B	c.123C>T	p.G41=	Synonymous	2/12	-
9-97177454-C-G	MFSD14B	c.123C>G	p.G41=	Synonymous	2/12	-
9-97177454-C-A	MFSD14B	c.123C>A	p.G41=	Synonymous	2/12	-
8-110287654-C-A	NUDCD1	c.1100G>T	p.G367V	Missense	7/10	-
7-23357263-A-G	IGF2BP3	c.1390T>C	p.F464L	Missense	12/15	-
7-23357261-G-T	IGF2BP3	c.1392C>A	p.F464L	Missense	12/15	-
7-23357261-G-C	IGF2BP3	c.1392C>G	p.F464L	Missense	12/15	-
3-179424810-C-A	USP13	c.566C>A	p.S189Y	Missense	5/21	-
8-59343176-G-T	UBXN2B	c.287G>T	p.G96V	Missense	3/8	-
9-91077653-C-A	SPIN1	c.344C>A	p.P115H	Missense	4/6	-
3-190147419-G-T	TMEM207	c.406C>A	p.P136T	Missense	5/5	-
9-140954153-G-T	CACNA1B	c.4632G>T	p.L1544F	Missense	31/47	-
9-140954153-G-C	CACNA1B	c.4632G>C	p.L1544F	Missense	31/47	-
9-79985379-G-T	VPS13A	c.8792G>T	p.G2931V	Missense	65/72	-
11-61084002-A-T	DDB1	c.1263T>A	p.T421=	Synonymous	11/27	-
11-61084002-A-C	DDB1	c.1263T>G	p.T421=	Synonymous	11/27	-
11-61084002-A-G	DDB1	c.1263T>C	p.T421=	Synonymous	11/27	-
11-108398876-C-A	EXPH5	c.479G>T	p.R160M	Missense	4/6	-
12-124957637-G-C	NCOR2	c.452C>G	p.P151R	Missense	6/49	-
13-109792769-G-T	MYO16	c.4209G>T	p.G1403=	Synonymous	32/35	-
13-109792769-G-A	MYO16	c.4209G>A	p.G1403=	Synonymous	32/35	-
13-109792769-G-C	MYO16	c.4209G>C	p.G1403=	Synonymous	32/35	-
15-49170440-C-T	EID1	c.67C>T	p.P23S	Missense	1/1	-
7-23347547-G-T	MALSU1	c.496G>T	p.D166Y	Missense	3/4	-
6-53519521-G-T	KLHL31	c.550C>A	p.L184I	Missense	2/3	-
17-48616664-A-T	EPN3	c.879A>T	p.L293=	Synonymous	5/10	-
17-48616664-A-G	EPN3	c.879A>G	p.L293=	Synonymous	5/10	-
17-48616664-A-C	EPN3	c.879A>C	p.L293=	Synonymous	5/10	-
17-48616662-C-T	EPN3	c.877C>T	p.L293=	Synonymous	5/10	-
17-73274363-G-A	SLC25A19	c.513C>T	p.P171=	Synonymous	6/8	-
17-73274363-G-C	SLC25A19	c.513C>G	p.P171=	Synonymous	6/8	-
17-73274363-G-T	SLC25A19	c.513C>A	p.P171=	Synonymous	6/8	-
4-122782782-C-A	BBS7	c.218G>T	p.G73V	Missense	4/19	-
19-1531742-C-T	PLK5	c.574C>T	p.Q192*	Nonsense	12/14	-
19-1980192-G-T	CSNK1G2	c.1238G>T	p.R413L	Missense	12/12	-
5-66429432-G-C	MAST4	c.2184G>C	p.E728D	Missense	17/29	-
5-66429432-G-T	MAST4	c.2184G>T	p.E728D	Missense	17/29	-
5-52161604-T-A	ITGA1	c.577T>A	p.L193I	Missense	6/29	-
2-8822337-C-T	ID2	c.42C>T	p.S14=	Synonymous	1/3	-
7-100642925-C-A	MUC12	c.9081C>A	p.R3027=	Synonymous	2/12	-
7-100642925-C-G	MUC12	c.9081C>G	p.R3027=	Synonymous	2/12	-
7-100642925-C-T	MUC12	c.9081C>T	p.R3027=	Synonymous	2/12	-
5-172744890-C-A	STC2	c.869G>T	p.W290L	Missense	4/4	-
4-3037184-C-T	GRK4	c.1341C>T	p.P447=	Synonymous	13/16	-
4-3037184-C-G	GRK4	c.1341C>G	p.P447=	Synonymous	13/16	-
4-3037184-C-A	GRK4	c.1341C>A	p.P447=	Synonymous	13/16	-
4-90035018-C-A	TIGD2	c.893C>A	p.P298Q	Missense	2/2	-
5-31267808-G-C	CDH6	c.228G>C	p.K76N	Missense	2/12	-
5-31267808-G-T	CDH6	c.228G>T	p.K76N	Missense	2/12	-
4-144618799-C-G	FREM3	c.3030G>C	p.E1010D	Missense	1/8	-
4-144618799-C-A	FREM3	c.3030G>T	p.E1010D	Missense	1/8	-
4-183650186-C-A	TENM3	c.2437C>A	p.R813=	Synonymous	14/28	-
4-183650188-G-A	TENM3	c.2439G>A	p.R813=	Synonymous	14/28	-
4-183650188-G-C	TENM3	c.2439G>C	p.R813=	Synonymous	14/28	-
4-183650188-G-T	TENM3	c.2439G>T	p.R813=	Synonymous	14/28	-
4-41992720-C-A	SLC30A9	c.52C>A	p.L18M	Missense	1/18	-
4-73179431-C-A	ADAMTS3	c.1708G>T	p.G570C	Missense	12/22	-
3-122575207-A-G	SLC49A4	c.996A>G	p.G332=	Synonymous	6/9	-
3-122575207-A-C	SLC49A4	c.996A>C	p.G332=	Synonymous	6/9	-
3-130174379-C-A	COL6A5	c.6659C>A	p.P2220H	Missense	37/41	-
1-193091453-T-A	CDC73	c.123T>A	p.V41=	Synonymous	1/17	-
1-193091453-T-C	CDC73	c.123T>C	p.V41=	Synonymous	1/17	-
1-193091453-T-G	CDC73	c.123T>G	p.V41=	Synonymous	1/17	-
11-67235031-G-C	TMEM134	c.270C>G	p.S90=	Synonymous	3/7	-
22-41833284-C-A	TOB2	c.66G>T	p.R22=	Synonymous	2/2	-
3-122575177-T-C	SLC49A4	c.966T>C	p.F322=	Synonymous	6/9	-
3-122575207-A-T	SLC49A4	c.996A>T	p.G332=	Synonymous	6/9	-
19-36128121-C-G	RBM42	c.1197C>G	p.R399=	Synonymous	9/10	-
19-36128121-C-T	RBM42	c.1197C>T	p.R399=	Synonymous	9/10	-
22-41833286-G-T	TOB2	c.64C>A	p.R22=	Synonymous	2/2	-
22-41833284-C-G	TOB2	c.66G>C	p.R22=	Synonymous	2/2	-
11-67235031-G-T	TMEM134	c.270C>A	p.S90=	Synonymous	3/7	-
1-156221250-T-C	SMG5	c.2772A>G	p.K924=	Synonymous	20/22	-
16-75602087-T-C	GABARAPL2	c.243T>C	p.D81=	Synonymous	3/4	-
12-69981959-T-C	CCT2	c.363T>C	p.I121=	Synonymous	6/16	-
12-69981959-T-A	CCT2	c.363T>A	p.I121=	Synonymous	6/16	-
12-117479767-G-A	TESC	c.552C>T	p.F184=	Synonymous	7/8	-
13-45010192-G-T	TSC22D1	c.2952C>A	p.I984=	Synonymous	2/3	-
13-45010192-G-A	TSC22D1	c.2952C>T	p.I984=	Synonymous	2/3	-
14-105416731-G-A	AHNAK2	c.5057C>T	p.P1686L	Missense	7/7	-
17-27794180-C-A	TAOK1	c.150C>A	p.T50=	Synonymous	3/20	-
17-27794180-C-G	TAOK1	c.150C>G	p.T50=	Synonymous	3/20	-
17-27794180-C-T	TAOK1	c.150C>T	p.T50=	Synonymous	3/20	-
12-6696580-G-T	CHD4	c.3849C>A	p.A1283=	Synonymous	25/40	-
12-6696580-G-C	CHD4	c.3849C>G	p.A1283=	Synonymous	25/40	-
12-6696580-G-A	CHD4	c.3849C>T	p.A1283=	Synonymous	25/40	-
17-45682809-C-G	NPEPPS	c.1986C>G	p.L662=	Synonymous	17/23	-
17-45682809-C-A	NPEPPS	c.1986C>A	p.L662=	Synonymous	17/23	-
18-47402162-C-A	MYO5B	c.3432G>T	p.T1144=	Synonymous	26/40	-
18-47402162-C-G	MYO5B	c.3432G>C	p.T1144=	Synonymous	26/40	-
11-118307620-C-G	KMT2A	c.393C>G	p.A131=	Synonymous	1/36	-
11-118307620-C-T	KMT2A	c.393C>T	p.A131=	Synonymous	1/36	-
14-102467539-C-A	DYNC1H1	c.4243C>A	p.Q1415K	Missense	20/78	-
15-73862555-A-G	NPTN	c.1050T>C	p.I350=	Synonymous	6/9	-
15-73862555-A-T	NPTN	c.1050T>A	p.I350=	Synonymous	6/9	-
8-38123756-A-T	PLPP5	c.537T>A	p.R179=	Synonymous	6/7	-
8-38123756-A-C	PLPP5	c.537T>G	p.R179=	Synonymous	6/7	-
12-101790311-T-C	ARL1	c.381A>G	p.K127=	Synonymous	5/6	-
7-140453136-A-T	BRAF	c.1799T>A	p.V600E	Missense	15/18	-
16-15931812-A-G	MYH11	c.298T>C	p.S100P	Missense	2/41	-
5-878576-C-T	BRD9	c.1165G>A	p.A389T	Missense	11/16	-
6-167728900-T-C	UNC93A	c.1334T>C	p.V445A	Missense	8/8	-
13-25058867-C-T	PARP4	c.1372G>A	p.V458I	Missense	12/34	-
17-67513003-C-A	MAP2K6	c.91C>A	p.R31=	Synonymous	3/12	-
14-105419446-T-G	AHNAK2	c.2342A>C	p.K781T	Missense	7/7	-
20-3520912-G-T	ATRN	c.538G>T	p.E180*	Nonsense	3/29	-
10-51768970-G-A	AGAP6	c.1085G>A	p.G362D	Missense	8/8	-
16-31198135-T-C	FUS	c.777T>C	p.R259=	Synonymous	7/15	-
7-151882657-T-G	KMT2C	c.5068A>C	p.R1690=	Synonymous	34/59	-
19-9064037-C-A	MUC16	c.23409G>T	p.M7803I	Missense	3/84	-
9-77397731-T-G	TRPM6	c.2958A>C	p.I986=	Synonymous	22/39	-
9-77397731-T-A	TRPM6	c.2958A>T	p.I986=	Synonymous	22/39	-
3-52399006-G-A	DNAH1	c.5489G>A	p.C1830Y	Missense	34/78	-
1-47399670-G-T	CYP4A11	c.1170C>A	p.G390=	Synonymous	9/12	-
X-57619097-G-A	ZXDB	c.616G>A	p.G206R	Missense	1/1	-
X-150349191-C-A	GPR50	c.1136C>A	p.P379H	Missense	2/2	-
18-48591962-C-A	SMAD4	c.1125C>A	p.A375=	Synonymous	9/12	-
11-108186742-C-T	ATM	c.6100C>T	p.R2034*	Nonsense	42/63	-
17-11835435-G-T	DNAH9	c.12210G>T	p.Q4070H	Missense	64/69	-
17-11835435-G-C	DNAH9	c.12210G>C	p.Q4070H	Missense	64/69	-
18-48591962-C-G	SMAD4	c.1125C>G	p.A375=	Synonymous	9/12	-
18-48591962-C-T	SMAD4	c.1125C>T	p.A375=	Synonymous	9/12	-
19-10799894-G-A	ILF3	c.2603G>A	p.G868D	Missense	20/20	-
12-8245515-G-T	NECAP1	c.540G>T	p.R180S	Missense	6/8	-
13-107145586-C-T	EFNB2	c.804G>A	p.S268=	Synonymous	5/5	-
12-1943842-C-T	LRTM2	c.1068C>T	p.P356=	Synonymous	5/5	-
5-133533493-A-G	PPP2CA	c.900T>C	p.V300=	Synonymous	7/7	-
8-133899079-G-A	TG	c.1462G>A	p.A488T	Missense	9/48	-
7-94919541-G-T	PPP1R9A	c.4051G>T	p.E1351*	Nonsense	20/20	-
5-140559405-C-A	PCDHB8	c.1790C>A	p.S597*	Nonsense	1/1	-
8-38123756-A-G	PLPP5	c.537T>C	p.R179=	Synonymous	6/7	-
11-71238739-C-CTGTCAAAGCAGCTGTTGTAAGCCTTGTTGTTGTCAAAGCAGCTGTTGTAAGCCTTGTTGT	KRTAP5-7	c.396_397insCAAAGCAGCTGTTGTAAGCCTTGTTGTTGTCAAAGCAGCTGTTGTAAGCCTTGTTGTTGT	p.Q113_C132dup	InFrameInsertion	1/1	-
12-124887093-C-T	NCOR2	c.1497G>A	p.Q499=	Synonymous	16/49	-
16-67974062-G-T	LCAT	c.1068C>A	p.P356=	Synonymous	6/6	-
17-10223764-C-A	MYH13	c.3161G>T	p.R1054M	Missense	25/41	-
11-78380663-C-A	TENM4	c.6727G>T	p.D2243Y	Missense	32/34	-
6-26271395-C-T	H3C8	c.218G>A	p.R73Q	Missense	1/1	-
16-70582310-C-A	SF3B3	c.1367C>A	p.P456H	Missense	11/26	-
7-110763174-C-T	LRRN3	c.346C>T	p.P116S	Missense	3/3	-
1-248112665-G-A	OR2L8	c.506G>A	p.R169Q	Missense	1/1	-
X-57619097-G-C	ZXDB	c.616G>C	p.G206R	Missense	1/1	-
16-18887501-A-T	SMG1	c.1835T>A	p.I612K	Missense	13/63	-
9-89561527-C-A	GAS1	c.168G>T	p.Q56H	Missense	1/1	-
9-89561527-C-G	GAS1	c.168G>C	p.Q56H	Missense	1/1	-
19-22155278-AC-CT	ZNF208	c.2557_2558delinsAG	p.V853R	Missense	4/4	-
17-76482399-C-A	DNAH17	c.7008G>T	p.K2336N	Missense	45/81	-
18-23632682-C-A	SS18	c.513G>T	p.Q171H	Missense	5/11	-
18-23632682-C-G	SS18	c.513G>C	p.Q171H	Missense	5/11	-
19-45480701-A-G	CLPTM1	c.570A>G	p.T190=	Synonymous	5/14	-
17-76482399-C-G	DNAH17	c.7008G>C	p.K2336N	Missense	45/81	-
17-78086461-G-C	GAA	c.1839G>C	p.W613C	Missense	13/20	-
12-128900044-G-A	TMEM132C	c.853G>A	p.E285K	Missense	2/9	-
4-169433448-C-A	PALLD	c.793C>A	p.L265I	Missense	2/22	-
19-38872859-C-T	PSMD8	c.906C>T	p.Y302=	Synonymous	6/7	-
1-17272044-A-G	CROCC	c.2079A>G	p.T693=	Synonymous	15/37	-
1-17272044-A-T	CROCC	c.2079A>T	p.T693=	Synonymous	15/37	-
1-17272044-A-C	CROCC	c.2079A>C	p.T693=	Synonymous	15/37	-
22-21384426-G-A	SLC7A4	c.1197C>T	p.L399=	Synonymous	3/5	-
22-21384426-G-C	SLC7A4	c.1197C>G	p.L399=	Synonymous	3/5	-
22-21384426-G-T	SLC7A4	c.1197C>A	p.L399=	Synonymous	3/5	-
11-55579182-A-G	OR5L1	c.240A>G	p.K80=	Synonymous	1/1	-
8-21983210-C-A	HR	c.1441G>T	p.G481*	Nonsense	4/19	-
17-67513005-A-C	MAP2K6	c.93A>C	p.R31=	Synonymous	3/12	-
17-67513005-A-G	MAP2K6	c.93A>G	p.R31=	Synonymous	3/12	-
17-67513005-A-T	MAP2K6	c.93A>T	p.R31=	Synonymous	3/12	-
5-140476395-T-C	PCDHB2	c.2021T>C	p.L674P	Missense	1/1	-
18-47402162-C-T	MYO5B	c.3432G>A	p.T1144=	Synonymous	26/40	-
1-237052583-G-A	MTR	c.2954G>A	p.R985Q	Missense	28/33	-
3-54959111-G-T	LRTM1	c.139C>A	p.H47N	Missense	2/3	-
6-117198501-C-T	RFX6	c.63C>T	p.S21=	Synonymous	1/19	-