PMID: 24036952

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature genetics

JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, JI Goldstein, M Triebwasser, HE Anderson, J Zerbib, D Kavanagh, E Souied, N Katsanis, MJ Daly, JP Atkinson, S Raychaudhuri

2013-11

1902 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
3-99998531-G-C	TBC1D23	c.92G>C	p.Cys31Ser	Missense	2/18	-
5-169230145-C-A	DOCK2	c.2638C>A	p.Leu880Met	Missense	26/52	-
21-46311778-C-T	ITGB2	c.1358G>A	p.Ser453Asn	Missense	11/16	-
15-42585099-A-G	GANC	c.496A>G	p.Ile166Val	Missense	5/24	-
21-47410727-C-T	COL6A1	c.1043C>T	p.Ser348Leu	Missense	14/35	-
4-110682771-C-T	CFI	c.560G>A	p.Arg187Gln	Missense	4/13	-
15-89442723-T-A	MFGE8	c.1067A>T	p.Asn356Ile	Missense	8/8	-
1-151498143-G-A	CGN	c.1640G>A	p.Arg547Lys	Missense	9/21	-
2-46839434-T-C	PIGF	c.370A>G	p.Thr124Ala	Missense	4/7	-
1-183184663-G-A	LAMC2	c.344G>A	p.Arg115Gln	Missense	3/23	-
6-70916662-C-T	COL19A1	c.3281C>T	p.Pro1094Leu	Missense	50/51	-
20-60899513-C-G	LAMA5	c.5627G>C	p.Gly1876Ala	Missense	42/80	-
20-60899513-C-A	LAMA5	c.5627G>T	p.Gly1876Val	Missense	42/80	-
15-58855748-C-T	LIPC	c.1214C>T	p.Thr405Met	Missense	8/9	-
5-39331894-G-A	C9	c.499C>T	p.Pro167Ser	Missense	5/11	-
22-45923827-A-C	FBLN1	c.422A>C	p.Gln141Pro	Missense	4/17	-
22-45923827-A-G	FBLN1	c.422A>G	p.Gln141Arg	Missense	4/17	-
22-45923827-A-T	FBLN1	c.422A>T	p.Gln141Leu	Missense	4/17	-
15-42437975-C-T	PLA2G4F	c.1661G>A	p.Cys554Tyr	Missense	15/20	-
15-81591816-A-G	IL16	c.2149A>G	p.Ile717Val	Missense	14/19	-
1-57395228-G-A	C8B	c.1625C>T	p.Thr542Ile	Missense	12/12	-
2-215891583-C-G	ABCA12	c.1141G>C	p.Val381Leu	Missense	10/53	-
22-39621819-G-C	PDGFB	c.635C>G	p.Thr212Arg	Missense	6/7	-
5-174869045-G-C	DRD1	c.1058C>G	p.Ala353Gly	Missense	2/2	-
17-37817254-G-T	STARD3	c.1055G>T	p.Arg352Leu	Missense	13/15	-
17-37817254-G-A	STARD3	c.1055G>A	p.Arg352His	Missense	13/15	-
17-1673263-G-C	SERPINF1	c.202G>C	p.Val68Leu	Missense	3/8	-
21-47544599-G-A	COL6A2	c.1706G>A	p.Arg569Gln	Missense	22/28	-
13-31819325-T-C	B3GLCT	c.271-1835T>C	-	IntronicSNV	-	4/14
22-45958823-C-T	FBLN1	c.1698-11568C>T	-	IntronicSNV	-	14/16
6-76728524-C-T	IMPG1	c.718G>A	p.Val240Ile	Missense	7/17	-
2-188348943-G-A	TFPI	c.536C>T	p.Pro179Leu	Missense	6/8	-
6-76751738-C-T	IMPG1	c.173G>A	p.Arg58Lys	Missense	2/17	-
7-22771038-A-T	IL6	c.485A>T	p.Asp162Val	Missense	5/5	-
16-2138570-C-T	TSC2	c.5383C>T	p.Arg1795Cys	Missense	42/42	-
20-52773992-C-T	CYP24A1	c.1369G>A	p.Val457Ile	Missense	10/12	-
20-52773992-C-A	CYP24A1	c.1369G>T	p.Val457Phe	Missense	10/12	-
1-159683814-G-A	CRP	c.176C>T	p.Thr59Met	Missense	2/2	-
20-61450599-C-G	COL9A3	c.209C>G	p.Pro70Arg	Missense	4/32	-
1-207643432-C-G	CR2	c.1210C>G	p.Pro404Ala	Missense	6/19	-
20-61467564-C-G	COL9A3	c.1427C>G	p.Pro476Arg	Missense	28/32	-
19-51742917-G-A	CD33	c.1069G>A	p.Glu357Lys	Missense	7/7	-
6-32150063-C-T	AGER	c.925G>A	p.Gly309Arg	Missense	8/11	-
1-233398749-T-G	PCNX2	c.314A>C	p.Asp105Ala	Missense	2/34	-
1-197297965-G-A	CRB1	c.484G>A	p.Val162Met	Missense	2/12	-
1-15833555-T-G	CASP9	c.220A>C	p.Met74Leu	Missense	4/9	-
1-15833555-T-C	CASP9	c.220A>G	p.Met74Val	Missense	4/9	-
3-9959640-T-C	IL17RC	c.161T>C	p.Val54Ala	Missense	3/18	-
1-155028692-C-A	ADAM15	c.881C>A	p.Pro294His	Missense	9/21	-
1-155028692-C-T	ADAM15	c.881C>T	p.Pro294Leu	Missense	9/21	-
22-45919038-G-A	FBLN1	c.186-2385G>A	-	IntronicSNV	-	2/16
20-61450599-C-T	COL9A3	c.209C>T	p.Pro70Leu	Missense	4/32	-
19-1050996-G-A	ABCA7	c.2629G>A	p.Ala877Thr	Missense	19/47	-
3-171404481-G-T	PLD1	c.1861C>A	p.His621Asn	Missense	16/27	-
9-101912471-A-G	TGFBR1	c.*884A>G	-	3-UTRSNV	8/8	-
17-66878099-C-G	ABCA8	c.3731G>C	p.Cys1244Ser	Missense	29/38	-
2-228110691-C-A	COL4A3	c.346C>A	p.Pro116Thr	Missense	6/52	-
2-21232044-C-T	APOB	c.7696G>A	p.Glu2566Lys	Missense	26/29	-
1-183091040-G-A	LAMC1	c.2173G>A	p.Ala725Thr	Missense	12/28	-
5-156991445-G-A	ADAM19	c.187C>T	p.Leu63Phe	Missense	3/23	-
6-7231523-C-T	RREB1	c.3191C>T	p.Pro1064Leu	Missense	10/12	-
21-47546080-G-C	COL6A2	c.2351G>C	p.Arg784Pro	Missense	26/28	-
7-99786108-T-C	STAG3	c.466T>C	p.Ser156Pro	Missense	6/34	-
21-47546080-G-A	COL6A2	c.2351G>A	p.Arg784His	Missense	26/28	-
7-99654862-T-G	ZSCAN21	c.233T>G	p.Ile78Ser	Missense	2/4	-
15-63421686-A-T	LACTB	c.955A>T	p.Ser319Cys	Missense	5/6	-
19-51742917-G-T	CD33	c.1069G>T	p.Glu357*	Nonsense	7/7	-
1-196711067-G-T	CFH	c.3019G>T	p.Val1007Leu	Missense	19/22	-
1-196711067-G-A	CFH	c.3019G>A	p.Val1007Met	Missense	19/22	-
1-196711067-G-C	CFH	c.3019G>C	p.Val1007Leu	Missense	19/22	-
9-133942515-C-T	LAMC3	c.2516C>T	p.Thr839Met	Missense	14/28	-
6-32150063-C-G	AGER	c.925G>C	p.Gly309Arg	Missense	8/11	-
21-47423706-G-A	COL6A1	c.2866G>A	p.Glu956Lys	Missense	35/35	-
4-110667387-G-A	CFI	c.1420C>T	p.Arg474*	Nonsense	11/13	-
7-99764240-A-G	GAL3ST4	c.314T>C	p.Phe105Ser	Missense	3/4	-
1-161479663-A-G	FCGR2A	c.415A>G	p.Met139Val	Missense	4/7	-
20-56735870-G-A	C20orf85	c.406G>A	p.Val136Met	Missense	4/4	-
1-196683002-A-C	CFH	c.1474A>C	p.Ile492Leu	Missense	10/22	-
6-42666136-G-A	PRPH2	c.938C>T	p.Pro313Leu	Missense	3/3	-
1-183212412-G-A	LAMC2	c.3459G>A	p.Arg1153Arg	Synonymous	23/23	-
3-52551981-G-A	STAB1	c.4723G>A	p.Val1575Met	Missense	45/69	-
19-1051944-G-A	ABCA7	c.2966G>A	p.Arg989His	Missense	22/47	-
22-31533855-G-T	PLA2G3	c.907C>A	p.Arg303Arg	Synonymous	4/7	-
18-334837-G-A	COLEC12	c.1721C>T	p.Pro574Leu	Missense	6/10	-
22-39621784-G-C	PDGFB	c.670C>G	p.Arg224Gly	Missense	6/7	-
1-233122172-G-A	PCNX2	c.5906C>T	p.Thr1969Met	Missense	33/34	-
21-46309312-G-A	ITGB2	c.1756C>T	p.Arg586Trp	Missense	13/16	-
7-150698352-G-A	NOS3	c.1267G>A	p.Ala423Thr	Missense	11/27	-
1-103428312-G-T	COL11A1	c.2573C>A	p.Pro858Gln	Missense	37/65	-
20-23028659-G-A	THBD	c.1483C>T	p.Pro495Ser	Missense	1/1	-
9-101816909-A-G	COL15A1	c.3002A>G	p.Lys1001Arg	Missense	32/42	-
22-31533855-G-A	PLA2G3	c.907C>T	p.Arg303*	Nonsense	4/7	-
8-135649838-G-A	ZFAT	c.278C>T	p.Pro93Leu	Missense	4/17	-
5-156918697-G-A	ADAM19	c.2021C>T	p.Pro674Leu	Missense	18/23	-
9-101912471-A-T	TGFBR1	c.*884A>T	-	3-UTRSNV	8/8	-
1-120465364-C-T	NOTCH2	c.4897G>A	p.Val1633Ile	Missense	27/34	-
4-110682726-C-T	CFI	c.605G>A	p.Arg202Lys	Missense	4/13	-
17-6901889-A-C	ALOX12	c.399A>C	p.Lys133Asn	Missense	3/14	-
22-42525134-C-T	CYP2D6	c.406G>A	p.Val136Ile	Missense	3/9	-
1-185934999-G-A	HMCN1	c.2164G>A	p.Glu722Lys	Missense	14/107	-
15-39874396-T-G	THBS1	c.70T>G	p.Ser24Ala	Missense	3/22	-
15-42702858-G-A	CAPN3	c.2257G>A	p.Asp753Asn	Missense	21/24	-
17-21208417-G-A	MAP2K3	c.751G>A	p.Val251Ile	Missense	9/12	-
17-48267454-G-C	COL1A1	c.2467C>G	p.Pro823Ala	Missense	36/51	-
6-32063460-G-A	TNXB	c.2170C>T	p.Arg724Cys	Missense	3/44	-
3-99481539-G-T	COL8A1	c.-4+17674G>T	-	intron_variant	-	3/4
17-48267454-G-T	COL1A1	c.2467C>A	p.Pro823Thr	Missense	36/51	-
6-30675997-C-T	MDC1	c.2359G>A	p.Gly787Arg	Missense	8/15	-
16-81298254-C-T	BCO1	c.481C>T	p.Arg161Cys	Missense	5/11	-
6-32006867-G-A	CYP21A2	c.293-4G>A	-	IntronicSNV	-	2/9
4-110667408-A-G	CFI	c.1399T>C	p.Cys467Arg	Missense	11/13	-
18-74696703-C-T	MBP	c.549+28G>A	-	IntronicSNV	-	6/6
2-21232125-C-T	APOB	c.7615G>A	p.Val2539Ile	Missense	26/29	-
17-48263206-T-C	COL1A1	c.4181A>G	p.Asn1394Ser	Missense	50/51	-
3-52556127-A-C	STAB1	c.6346A>C	p.Thr2116Pro	Missense	59/69	-
2-9683364-T-C	ADAM17	c.148A>G	p.Ile50Val	Missense	2/19	-
20-44538243-G-A	PLTP	c.397C>T	p.Arg133Trp	Missense	5/16	-
16-23079408-T-C	USP31	c.4018A>G	p.Ser1340Gly	Missense	16/16	-
2-228110691-C-T	COL4A3	c.346C>T	p.Pro116Ser	Missense	6/52	-
18-346700-C-T	COLEC12	c.922G>A	p.Glu308Lys	Missense	5/10	-
13-111143601-A-G	COL4A2	c.3368A>G	p.Glu1123Gly	Missense	37/48	-
3-48630252-G-A	COL7A1	c.802C>T	p.Pro268Ser	Missense	6/118	-
16-76513340-C-T	CNTNAP4	c.1784C>T	-	missense_variant	13/25	-
6-31736835-C-T	VWA7	c.1463G>A	p.Arg488Gln	Missense	10/17	-
5-41158777-C-T	C6	c.1967G>A	p.Arg656Gln	Missense	13/18	-
6-43582176-C-A	POLH	c.2024C>A	p.Ser675Tyr	Missense	11/11	-
3-48627789-C-A	COL7A1	c.1907G>T	p.Gly636Val	Missense	15/118	-
5-156915323-G-C	ADAM19	c.2500C>G	p.Pro834Ala	Missense	21/23	-
20-60885119-C-A	LAMA5	c.10753G>T	p.Asp3585Tyr	Missense	78/80	-
10-105794406-G-A	COL17A1	c.3739C>T	p.Arg1247Trp	Missense	51/56	-
1-173884010-A-T	SERPINC1	c.89T>A	p.Val30Glu	Missense	2/7	-
2-237490000-C-T	ACKR3	c.892C>T	p.His298Tyr	Missense	2/2	-
6-70873265-C-G	COL19A1	c.2377C>G	p.Pro793Ala	Missense	36/51	-
19-5844804-C-G	FUT3	c.47G>C	p.Cys16Ser	Missense	3/3	-
11-34482910-G-A	CAT	c.1169G>A	p.Gly390Asp	Missense	9/13	-
4-110667600-C-T	CFI	c.1207G>A	p.Asp403Asn	Missense	11/13	-
4-57797230-C-T	REST	c.2206C>T	p.Pro736Ser	Missense	4/4	-
2-215882771-G-C	ABCA12	c.1743C>G	p.Asp581Glu	Missense	14/53	-
15-39874909-G-A	THBS1	c.583G>A	p.Ala195Thr	Missense	3/22	-
5-35065328-C-T	PRLR	c.1732G>A	p.Glu578Lys	Missense	10/10	-
1-186141181-C-G	HMCN1	c.15732C>G	p.His5244Gln	Missense	102/107	-
1-94517254-C-G	ABCA4	c.2588G>C	p.Gly863Ala	Missense	17/50	-
2-188349633-G-T	TFPI	c.440C>A	p.Thr147Lys	Missense	5/8	-
7-75932207-C-T	HSPB1	c.178C>T	p.Pro60Ser	Missense	1/3	-
8-2063891-G-C	MYOM2	c.3320G>C	p.Gly1107Ala	Missense	26/37	-
1-186141181-C-A	HMCN1	c.15732C>A	p.His5244Gln	Missense	102/107	-
7-99971735-A-G	PILRA	c.133A>G	p.Met45Val	Missense	2/7	-
11-85707896-C-G	PICALM	c.1231G>C	p.Ala411Pro	Missense	12/20	-
4-57797037-G-T	REST	c.2013G>T	p.Glu671Asp	Missense	4/4	-
4-57797037-G-A	REST	c.2013G>A	p.Glu671Glu	Synonymous	4/4	-
7-17379805-A-G	AHR	c.2356A>G	p.Met786Val	Missense	10/11	-
7-17379796-G-A	AHR	c.2347G>A	p.Val783Met	Missense	10/11	-
10-81318680-C-T	SFTPA2	c.254G>A	p.Arg85His	Missense	4/6	-
10-81318680-C-G	SFTPA2	c.254G>C	p.Arg85Pro	Missense	4/6	-
6-160963771-C-A	LPA	c.5468G>T	p.Gly1823Val	Missense	34/39	-
16-23079836-C-T	USP31	c.3590G>A	p.Arg1197Gln	Missense	16/16	-
9-136319670-C-T	ADAMTS13	c.3178C>T	p.Arg1060Trp	Missense	24/29	-
9-136319670-C-A	ADAMTS13	c.3178C>A	p.Arg1060Arg	Synonymous	24/29	-
12-2659186-G-A	CACNA1C	c.1468G>A	p.Gly490Arg	Missense	10/47	-
19-6734232-G-A	GPR108	c.461C>T	p.Pro154Leu	Missense	5/18	-
19-6734232-G-C	GPR108	c.461C>G	p.Pro154Arg	Missense	5/18	-
8-8999019-C-T	PPP1R3B	c.143G>A	p.Gly48Glu	Missense	2/2	-
11-10508808-A-G	AMPD3	c.863A>G	p.Asn288Ser	Missense	6/15	-
20-60884852-G-T	LAMA5	c.10868C>A	p.Ala3623Glu	Missense	79/80	-
20-60884852-G-A	LAMA5	c.10868C>T	p.Ala3623Val	Missense	79/80	-
6-32149140-C-T	AGER	c.1106G>A	p.Arg369Gln	Missense	10/11	-
21-47552201-C-G	COL6A2	c.2795C>G	p.Pro932Arg	Missense	28/28	-
4-110681527-C-G	CFI	c.782G>C	p.Gly261Ala	Missense	6/13	-
4-110667378-C-G	CFI	c.1429G>C	p.Asp477His	Missense	11/13	-
1-155026438-C-T	ADAM15	c.316C>T	p.Arg106Trp	Missense	4/21	-
4-110663677-G-A	CFI	c.1504C>T	p.Arg502Cys	Missense	12/13	-
3-93598150-A-G	PROS1	c.1501T>C	p.Ser501Pro	Missense	13/15	-
6-31918154-A-G	CFB	c.1598A>G	p.Lys533Arg	Missense	12/18	-
4-120419806-G-C	PDE5A	c.2578C>G	p.Gln860Glu	Missense	21/21	-
6-31747510-C-T	VARS	c.3163G>A	p.Val1055Ile	Missense	27/30	-
6-31747510-C-A	VARS	c.3163G>T	p.Val1055Phe	Missense	27/30	-
13-31897910-G-A	B3GLCT	c.1207G>A	p.Val403Ile	Missense	14/15	-
6-31931747-G-C	SKIV2L	c.1705G>C	p.Val569Leu	Missense	16/28	-
6-7182266-A-G	RREB1	c.122A>G	p.Lys41Arg	Missense	4/12	-
15-42439369-G-A	PLA2G4F	c.1372C>T	p.Leu458Phe	Missense	13/20	-
7-94940880-A-C	PON1	c.380T>G	p.Met127Arg	Missense	5/9	-
6-32041661-C-T	TNXB	c.4444G>A	p.Val1482Met	Missense	12/44	-
4-184932032-G-A	STOX2	c.2041G>A	p.Val681Ile	Missense	3/4	-
1-31349983-C-T	SDC3	c.286G>A	p.Ala96Thr	Missense	3/5	-
5-41382364-C-T	PLCXD3	c.376G>A	p.Glu126Lys	Missense	2/3	-
5-35072685-C-T	PRLR	c.535G>A	p.Glu179Lys	Missense	6/10	-
2-228158021-C-T	COL4A3	c.3325C>T	p.Pro1109Ser	Missense	38/52	-
15-81558093-A-G	IL16	c.515A>G	p.Asn172Ser	Missense	4/19	-
10-98802722-G-T	SLIT1	c.2100C>A	p.Asn700Lys	Missense	20/37	-
6-160969693-T-C	LPA	c.4974-2A>G	-	IntronicSNV	-	30/38
22-31532702-A-C	PLA2G3	c.1283T>G	p.Leu428Arg	Missense	6/7	-
19-10398842-G-A	ICAM4	c.*62G>A	-	3-UTRSNV	3/3	-
3-52551020-G-C	STAB1	c.4384G>C	p.Gly1462Arg	Missense	42/69	-
3-52551020-G-A	STAB1	c.4384G>A	p.Gly1462Ser	Missense	42/69	-
9-120476694-G-T	TLR4	c.2288G>T	p.Arg763Leu	Missense	3/3	-
3-52551973-C-T	STAB1	c.4715C>T	p.Ala1572Val	Missense	45/69	-
13-95735520-C-A	ABCC4	c.2560G>T	p.Val854Phe	Missense	21/31	-
13-47303075-C-A	LRCH1	c.1858C>A	p.Arg620Ser	Missense	17/19	-
19-10395877-C-T	ICAM1	c.1513C>T	p.Arg505Cys	Missense	7/7	-
19-5844406-G-T	FUT3	c.445C>A	p.Leu149Met	Missense	3/3	-
9-21077313-G-T	IFNB1	c.556C>A	p.Arg186Arg	Synonymous	1/1	-
16-56995935-C-G	CETP	c.44C>G	p.Ala15Gly	Missense	1/16	-
20-60900388-C-G	LAMA5	c.5513G>C	p.Arg1838Pro	Missense	41/80	-
15-62207854-T-C	VPS13C	c.8294A>G	p.Lys2765Arg	Missense	59/83	-
5-40936541-T-C	C7	c.382T>C	p.Cys128Arg	Missense	5/18	-
7-100085880-C-T	NYAP1	c.536C>T	p.Ser179Phe	Missense	4/7	-
20-60900388-C-T	LAMA5	c.5513G>A	p.Arg1838Gln	Missense	41/80	-
1-233122172-G-C	PCNX2	c.5906C>G	p.Thr1969Arg	Missense	33/34	-
2-165557069-T-C	COBLL1	c.1540A>G	p.Met514Val	Missense	10/14	-
20-61451305-C-T	COL9A3	c.280C>T	p.Pro94Ser	Missense	5/32	-
13-113795286-G-A	F10	c.424G>A	p.Glu142Lys	Missense	5/8	-
6-116559406-T-G	NT5DC1	c.978T>G	p.Ser326Arg	Missense	10/12	-
3-171452701-C-T	PLD1	c.494G>A	p.Arg165His	Missense	5/27	-
5-169509815-G-T	DOCK2	c.5446G>T	p.Ala1816Ser	Missense	52/52	-
15-62212298-C-A	VPS13C	c.7316G>T	p.Arg2439Leu	Missense	55/83	-
18-50683873-G-A	DCC	c.1409G>A	p.Gly470Asp	Missense	8/29	-
1-183209311-C-T	LAMC2	c.3206C>T	p.Thr1069Met	Missense	21/23	-
22-42525089-G-A	CYP2D6	c.451C>T	p.Gln151*	Nonsense	3/9	-
4-72622601-T-C	GC	c.862A>G	p.Asn288Asp	Missense	8/13	-
4-110670400-C-G	CFI	c.1122G>C	p.Trp374Cys	Missense	10/13	-
20-56735870-G-T	C20orf85	c.406G>T	p.Val136Leu	Missense	4/4	-
15-66821230-A-C	ZWILCH	c.1010A>C	p.Lys337Thr	Missense	11/19	-
15-66821230-A-G	ZWILCH	c.1010A>G	p.Lys337Arg	Missense	11/19	-
15-62207911-A-T	VPS13C	c.8237T>A	p.Ile2746Asn	Missense	59/83	-
15-62207911-A-G	VPS13C	c.8237T>C	p.Ile2746Thr	Missense	59/83	-
10-45941076-A-C	ALOX5	c.1966A>C	p.Lys656Gln	Missense	14/14	-
18-34901815-C-T	CELF4	c.399G>A	p.Ala133Ala	Synonymous	3/13	-
17-73746884-G-A	ITGB4	c.3598G>A	p.Gly1200Arg	Missense	29/40	-
1-100349983-C-T	AGL	c.2522C>T	p.Ser841Phe	Missense	19/34	-
8-2054077-A-G	MYOM2	c.2780A>G	p.Tyr927Cys	Missense	22/37	-
7-2752330-C-T	AMZ1	c.1315C>T	p.Arg439Cys	Missense	7/7	-
12-120653407-G-A	PXN	c.832-331C>T	-	IntronicSNV	-	6/10
15-75012925-C-T	CYP1A1	c.1444G>A	p.Val482Met	Missense	7/7	-
3-49568543-C-G	DAG1	c.599C>G	p.Thr200Ser	Missense	6/6	-
2-69732797-G-T	AAK1	c.2173C>A	p.Pro725Thr	Missense	16/22	-
3-49548226-A-G	DAG1	c.259A>G	p.Ile87Val	Missense	5/6	-
7-2752330-C-A	AMZ1	c.1315C>A	p.Arg439Ser	Missense	7/7	-
2-9695682-G-A	ADAM17	c.53C>T	p.Pro18Leu	Missense	1/19	-
10-81371595-C-T	SFTPA1	c.14C>T	p.Pro5Leu	Missense	3/6	-
1-232650941-T-C	SIPA1L2	c.145A>G	p.Thr49Ala	Missense	1/21	-
18-64218391-T-C	CDH19	c.715A>G	p.Thr239Ala	Missense	5/12	-
16-23080313-C-T	USP31	c.3113G>A	p.Ser1038Asn	Missense	16/16	-
1-183197677-C-T	LAMC2	c.1637C>T	p.Ala546Val	Missense	11/23	-
2-21224843-G-A	APOB	c.13451C>T	p.Thr4484Met	Missense	29/29	-
2-21224843-G-T	APOB	c.13451C>A	p.Thr4484Lys	Missense	29/29	-
6-31829865-C-G	NEU1	c.263G>C	p.Gly88Ala	Missense	2/6	-
1-183192395-A-G	LAMC2	c.889A>G	p.Thr297Ala	Missense	7/23	-
21-47552201-C-T	COL6A2	c.2795C>T	p.Pro932Leu	Missense	28/28	-
1-120479948-T-C	NOTCH2	c.3479A>G	p.His1160Arg	Missense	21/34	-
6-31939416-T-C	DXO	c.37A>G	p.Thr13Ala	Missense	2/7	-
7-95024007-G-A	PON3	c.94C>T	p.Arg32*	Nonsense	2/9	-
19-6678030-T-C	C3	c.4855A>G	p.Ser1619Gly	Missense	41/41	-
1-183204831-C-T	LAMC2	c.2422C>T	p.Pro808Ser	Missense	16/23	-
1-183204831-C-G	LAMC2	c.2422C>G	p.Pro808Ala	Missense	16/23	-
12-57587715-G-A	LRP1	c.7838G>A	p.Arg2613Gln	Missense	48/89	-
17-4535035-G-A	ALOX15	c.1849C>T	p.Pro617Ser	Missense	14/14	-
18-331717-C-T	COLEC12	c.2014G>A	p.Glu672Lys	Missense	8/10	-
1-183190055-C-A	LAMC2	c.599C>A	p.Ala200Glu	Missense	5/23	-
7-99691871-C-G	MCM7	c.1245G>C	p.Glu415Asp	Missense	12/14	-
8-2005591-C-G	MYOM2	c.389C>G	p.Ala130Gly	Missense	4/37	-
16-31374633-C-T	ITGAX	c.1648C>T	p.Arg550Trp	Missense	14/30	-
7-100091306-C-A	NYAP1	c.2306C>A	p.Pro769His	Missense	7/7	-
4-110670680-A-G	CFI	c.1019T>C	p.Ile340Thr	Missense	9/13	-
9-137779251-G-A	FCN2	c.932G>A	p.Arg311Gln	Missense	8/8	-
17-76399916-A-C	PGS1	c.1148A>C	p.Tyr383Ser	Missense	7/10	-
16-23160057-C-T	USP31	c.535G>A	p.Gly179Ser	Missense	1/16	-
9-107578618-C-T	ABCA1	c.3544G>A	p.Ala1182Thr	Missense	25/50	-
5-134910364-T-C	CXCL14	c.182A>G	-	missense_variant	3/4	-
6-70851789-A-G	COL19A1	c.1487A>G	p.Glu496Gly	Missense	21/51	-
8-2007303-C-T	MYOM2	c.590C>T	p.Ala197Val	Missense	6/37	-
9-123787743-A-G	C5	c.989T>C	p.Ile330Thr	Missense	9/41	-
2-165551669-A-G	COBLL1	c.2347T>C	p.Ser783Pro	Missense	12/14	-
12-8212221-A-C	C3AR1	c.561T>G	p.Phe187Leu	Missense	2/2	-
1-171301882-T-A	FMO4	c.662T>A	p.Leu221His	Missense	7/10	-
7-99808703-C-T	STAG3	c.3308C>T	p.Pro1103Leu	Missense	30/34	-
3-52547252-A-G	STAB1	c.3265A>G	p.Ser1089Gly	Missense	30/69	-
6-161010615-T-C	LPA	c.3917A>G	p.His1306Arg	Missense	24/39	-
9-27172662-C-T	TEK	c.677C>T	p.Ala226Val	Missense	5/23	-
15-42643546-C-T	GANC	c.2551C>T	p.His851Tyr	Missense	23/24	-
6-80626470-A-G	ELOVL4	c.800T>C	p.Ile267Thr	Missense	6/6	-
2-219679475-G-T	CYP27A1	c.1471G>T	p.Ala491Ser	Missense	8/9	-
2-219679475-G-A	CYP27A1	c.1471G>A	p.Ala491Thr	Missense	8/9	-
1-94497563-C-T	ABCA4	c.3899G>A	p.Arg1300Gln	Missense	27/50	-
15-66807942-G-A	ZWILCH	c.280G>A	p.Glu94Lys	Missense	4/19	-
7-100074938-G-T	TSC22D4	c.724C>A	p.Leu242Met	Missense	2/5	-
4-77100837-C-T	SCARB2	c.445G>A	p.Val149Met	Missense	4/12	-
2-56145110-G-T	EFEMP1	c.207C>A	p.Leu69Leu	Synonymous	5/12	-
20-61467564-C-T	COL9A3	c.1427C>T	p.Pro476Leu	Missense	28/32	-
17-66878099-C-T	ABCA8	c.3731G>A	p.Cys1244Tyr	Missense	29/38	-
3-171417570-G-A	PLD1	c.1192C>T	p.Arg398Cys	Missense	12/27	-
3-133496032-G-A	TF	c.2012G>A	p.Gly671Glu	Missense	16/17	-
22-42526775-C-T	CYP2D6	c.19G>A	p.Val7Met	Missense	1/9	-
2-21238323-G-A	APOB	c.3427C>T	p.Pro1143Ser	Missense	22/29	-
22-31533855-G-C	PLA2G3	c.907C>G	p.Arg303Gly	Missense	4/7	-
2-215876783-T-C	ABCA12	c.2033A>G	p.Asn678Ser	Missense	16/53	-
19-6734289-T-C	GPR108	c.404A>G	p.Lys135Arg	Missense	5/18	-
9-136305552-G-A	ADAMTS13	c.1874G>A	p.Arg625His	Missense	16/29	-
1-40766942-G-A	COL9A2	c.1982C>T	p.Pro661Leu	Missense	32/32	-
1-40766942-G-C	COL9A2	c.1982C>G	p.Pro661Arg	Missense	32/32	-
4-128608927-G-A	INTU	c.1354G>A	p.Ala452Thr	Missense	8/16	-
3-48603736-G-A	COL7A1	c.8371C>T	p.Arg2791Trp	Missense	113/118	-
22-39621784-G-A	PDGFB	c.670C>T	p.Arg224Trp	Missense	6/7	-
6-161152819-C-A	PLG	c.1481C>A	p.Ala494Glu	Missense	12/19	-
16-17202757-C-T	XYLT1	c.2675G>A	p.Arg892Gln	Missense	12/12	-
6-161152819-C-T	PLG	c.1481C>T	p.Ala494Val	Missense	12/19	-
18-50848468-A-G	DCC	c.2105A>G	p.Asn702Ser	Missense	14/29	-
4-110681521-C-A	CFI	c.788G>T	p.Gly263Val	Missense	6/13	-
4-57777078-G-A	REST	c.274G>A	p.Gly92Arg	Missense	2/4	-
8-6372298-G-A	ANGPT2	c.932C>T	p.Ala311Val	Missense	6/9	-
6-31736835-C-A	VWA7	c.1463G>T	p.Arg488Leu	Missense	10/17	-
6-31736835-C-G	VWA7	c.1463G>C	p.Arg488Pro	Missense	10/17	-
5-156915323-G-A	ADAM19	c.2500C>T	p.Pro834Ser	Missense	21/23	-
4-84232010-A-G	HPSE	c.707T>C	p.Phe236Ser	Missense	6/13	-
4-84232010-A-C	HPSE	c.707T>G	p.Phe236Cys	Missense	6/13	-
6-32188010-T-C	NOTCH4	c.1211A>G	p.Asp404Gly	Missense	7/30	-
9-136320444-G-A	ADAMTS13	c.3287G>A	p.Arg1096His	Missense	25/29	-
8-108296964-C-T	ANGPT1	c.1151G>A	p.Arg384Gln	Missense	7/9	-
9-130578230-G-A	ENG	c.1844C>T	p.Ser615Leu	Missense	14/14	-
1-186934559-G-A	PLA2G4A	c.1598G>A	p.Arg533Gln	Missense	15/18	-
16-57394457-C-T	CCL22	c.182C>T	p.Pro61Leu	Missense	2/3	-
9-139840122-G-C	C8G	c.175G>C	p.Ala59Pro	Missense	2/7	-
9-139840122-G-A	C8G	c.175G>A	p.Ala59Thr	Missense	2/7	-
20-60902366-G-A	LAMA5	c.5035C>T	p.Arg1679Trp	Missense	38/80	-
1-182571142-G-C	RGS16	c.346C>G	p.Gln116Glu	Missense	4/5	-
3-48628920-C-T	COL7A1	c.1613G>A	p.Arg538His	Missense	12/118	-
20-60892813-G-A	LAMA5	c.7261C>T	p.Arg2421Trp	Missense	54/80	-
5-156918697-G-C	ADAM19	c.2021C>G	p.Pro674Arg	Missense	18/23	-
4-187004500-C-T	TLR3	c.1660C>T	p.Pro554Ser	Missense	4/5	-
9-123751971-G-A	C5	c.3029C>T	p.Ala1010Val	Missense	24/41	-
15-62270845-T-C	VPS13C	c.2141A>G	p.Gln714Arg	Missense	21/83	-
14-103592967-G-C	TNFAIP2	c.173G>C	p.Ser58Thr	Missense	1/11	-
21-47545899-C-T	COL6A2	c.2170C>T	p.Arg724Cys	Missense	26/28	-
21-47545899-C-A	COL6A2	c.2170C>A	p.Arg724Ser	Missense	26/28	-
11-68177472-A-T	LRP5	c.2182A>T	p.Met728Leu	Missense	10/23	-
9-72071342-T-C	APBA1	c.1609A>G	p.Met537Val	Missense	8/13	-
1-176679311-T-C	PAPPA2	c.3650T>C	p.Leu1217Pro	Missense	11/23	-
22-38478666-C-G	SLC16A8	c.214+1G>C	-	IntronicSNV	-	2/4
22-38478666-C-T	SLC16A8	c.214+1G>A	-	IntronicSNV	-	2/4
7-99474143-G-A	OR2AE1	c.514C>T	p.Arg172Trp	Missense	1/1	-
7-99474143-G-T	OR2AE1	c.514C>A	p.Arg172Arg	Synonymous	1/1	-
15-42438355-G-A	PLA2G4F	c.1504C>T	p.Arg502Cys	Missense	14/20	-
9-107582258-T-A	ABCA1	c.3053A>T	p.Asp1018Val	Missense	21/50	-
17-4542794-C-G	ALOX15	c.268G>C	p.Asp90His	Missense	2/14	-
1-207782856-A-G	CR1	c.4768A>G	p.Lys1590Glu	Missense	29/39	-
4-69962375-T-C	UGT2B7	c.137T>C	p.Leu46Pro	Missense	1/6	-
20-44640275-G-A	MMP9	c.886G>A	p.Gly296Ser	Missense	6/13	-
4-110685721-C-T	CFI	c.454G>A	p.Val152Met	Missense	3/13	-
9-2635545-G-A	VLDLR	c.175G>A	p.Val59Ile	Missense	2/19	-
6-116325108-G-A	FRK	c.398C>T	p.Ser133Leu	Missense	2/8	-
16-81298282-C-A	BCO1	c.509C>A	p.Thr170Lys	Missense	5/11	-
9-130578230-G-C	ENG	c.1844C>G	p.Ser615Trp	Missense	14/14	-
6-32064161-C-T	TNXB	c.1469G>A	p.Arg490Gln	Missense	3/44	-
12-2797746-G-A	CACNA1C	c.5918G>A	p.Arg1973Gln	Missense	46/47	-
2-206592624-C-A	NRP2	c.1000C>A	p.Arg334Ser	Missense	7/17	-
2-228012183-A-G	COL4A4	c.17T>C	p.Ile6Thr	Missense	2/48	-
19-13051130-G-C	CALR	c.566G>C	p.Ser189Thr	Missense	5/9	-
1-183187613-C-T	LAMC2	c.493C>T	p.Arg165Cys	Missense	4/23	-
22-31536074-A-T	PLA2G3	c.267T>A	p.His89Gln	Missense	1/7	-
6-32185028-C-T	NOTCH4	c.1640G>A	p.Arg547Gln	Missense	10/30	-
7-150698352-G-T	NOS3	c.1267G>T	p.Ala423Ser	Missense	11/27	-
7-99702875-G-C	AP4M1	c.740G>C	p.Gly247Ala	Missense	10/15	-
2-21225354-T-C	APOB	c.12940A>G	p.Ile4314Val	Missense	29/29	-
18-34901833-C-G	CELF4	c.381G>C	p.Pro127Pro	Synonymous	3/13	-
19-31768945-G-A	TSHZ3	c.1754C>T	p.Pro585Leu	Missense	2/2	-
16-81298301-T-G	BCO1	c.528T>G	p.Asp176Glu	Missense	5/11	-
10-105792717-G-T	COL17A1	c.4304C>A	p.Ala1435Asp	Missense	54/56	-
16-2103392-A-T	TSC2	c.275A>T	p.Glu92Val	Missense	4/42	-
5-156923974-C-T	ADAM19	c.1522G>A	p.Gly508Ser	Missense	14/23	-
7-22771039-T-A	IL6	c.486T>A	p.Asp162Glu	Missense	5/5	-
22-31536074-A-G	PLA2G3	c.267T>C	p.His89His	Synonymous	1/7	-
2-206592624-C-T	NRP2	c.1000C>T	p.Arg334Cys	Missense	7/17	-
19-8436373-C-T	ANGPTL4	c.1006C>T	p.Arg336Cys	Missense	6/7	-
18-34901833-C-T	CELF4	c.381G>A	p.Pro127Pro	Synonymous	3/13	-
1-11308007-C-T	MTOR	c.985G>A	p.Ala329Thr	Missense	7/58	-
22-33257322-T-C	TIMP3	c.*1958T>C	-	3-UTRSNV	5/5	-
4-110667431-T-G	CFI	c.1376A>C	p.Tyr459Ser	Missense	11/13	-
7-22771039-T-C	IL6	c.486T>C	p.Asp162Asp	Synonymous	5/5	-
1-94528818-C-T	ABCA4	c.1610G>A	p.Arg537His	Missense	12/50	-
1-230386238-A-C	GALNT2	c.941A>C	p.Asp314Ala	Missense	10/16	-
4-15780060-C-T	CD38	c.23C>T	p.Pro8Leu	Missense	1/8	-
9-137582841-C-T	COL5A1	c.193C>T	p.Arg65Trp	Missense	2/66	-
6-30679197-T-C	MDC1	c.2213A>G	p.Gln738Arg	Missense	7/15	-
9-107589246-T-G	ABCA1	c.2320A>C	p.Thr774Pro	Missense	16/50	-
17-61568577-C-T	ACE	c.2747C>T	p.Thr916Met	Missense	19/25	-
8-18729328-C-A	PSD3	c.1046G>T	p.Gly349Val	Missense	3/16	-
7-73008233-G-A	MLXIPL	c.2521C>T	p.Arg841Trp	Missense	17/17	-
1-186151390-A-G	HMCN1	c.16385A>G	p.Gln5462Arg	Missense	105/107	-
1-155106446-G-C	EFNA1	c.521G>C	p.Arg174Pro	Missense	5/5	-
1-155106446-G-A	EFNA1	c.521G>A	p.Arg174Gln	Missense	5/5	-
17-58525018-C-T	APPBP2	c.1682G>A	p.Ser561Asn	Missense	13/13	-
6-7230559-G-C	RREB1	c.2227G>C	p.Glu743Gln	Missense	10/12	-
6-7230559-G-A	RREB1	c.2227G>A	p.Glu743Lys	Missense	10/12	-
19-7125518-C-T	INSR	c.3034G>A	p.Val1012Met	Missense	17/22	-
4-110682737-A-T	CFI	c.594T>A	p.Phe198Leu	Missense	4/13	-
4-110682737-A-C	CFI	c.594T>G	p.Phe198Leu	Missense	4/13	-
16-23080375-C-T	USP31	c.3051G>A	p.Lys1017Lys	Synonymous	16/16	-
6-30529622-G-A	PRR3	c.181G>A	p.Gly61Ser	Missense	3/4	-
21-47421960-T-C	COL6A1	c.2042T>C	p.Ile681Thr	Missense	31/35	-
1-183196682-A-G	LAMC2	c.1318A>G	p.Ile440Val	Missense	10/23	-
21-46308800-C-T	ITGB2	c.1888G>A	p.Glu630Lys	Missense	14/16	-
17-4535299-G-A	ALOX15	c.1694C>T	p.Pro565Leu	Missense	13/14	-
2-127808076-G-C	BIN1	c.1595C>G	p.Thr532Arg	Missense	18/19	-
2-127808076-G-A	BIN1	c.1595C>T	p.Thr532Met	Missense	18/19	-
11-68115489-A-G	LRP5	c.266A>G	p.Gln89Arg	Missense	2/23	-
1-120459122-C-G	NOTCH2	c.6223G>C	p.Val2075Leu	Missense	34/34	-
1-120459122-C-T	NOTCH2	c.6223G>A	p.Val2075Met	Missense	34/34	-
5-169111345-C-T	DOCK2	c.752C>T	p.Thr251Met	Missense	8/52	-
1-183192390-G-A	LAMC2	c.884G>A	p.Arg295Gln	Missense	7/23	-
1-183192390-G-C	LAMC2	c.884G>C	p.Arg295Pro	Missense	7/23	-
19-10395650-C-T	ICAM1	c.1372C>T	p.Arg458Trp	Missense	6/7	-
12-48272845-G-T	VDR	c.52C>A	p.Arg18Arg	Synonymous	3/10	-
12-48272845-G-A	VDR	c.52C>T	p.Arg18Trp	Missense	3/10	-
17-80320049-G-T	TEX19	c.23G>T	p.Arg8Leu	Missense	2/2	-
12-57556220-G-C	LRP1	c.2323G>C	p.Ala775Pro	Missense	14/89	-
12-57556220-G-A	LRP1	c.2323G>A	p.Ala775Thr	Missense	14/89	-
7-143095466-C-T	EPHA1	c.1412G>A	p.Arg471Gln	Missense	7/18	-
3-9970063-G-A	IL17RC	c.907G>A	p.Ala303Thr	Missense	10/18	-
1-27700455-C-T	FCN3	c.232+1G>A	-	IntronicSNV	-	3/7
5-124036907-G-A	ZNF608	c.962C>T	p.Thr321Met	Missense	2/9	-
13-47275283-G-A	LRCH1	c.1341G>A	p.Met447Ile	Missense	11/19	-
2-215910612-T-C	ABCA12	c.821A>G	p.Gln274Arg	Missense	7/53	-
19-6678030-T-G	C3	c.4855A>C	p.Ser1619Arg	Missense	41/41	-
22-29621173-G-A	EMID1	c.371G>A	p.Arg124Gln	Missense	4/15	-
17-74383648-C-G	SPHK1	c.1178C>G	p.Pro393Arg	Missense	6/6	-
1-203455861-A-G	PRELP	c.1001A>G	p.Asn334Ser	Missense	3/3	-
4-110682739-A-G	CFI	c.592T>C	p.Phe198Leu	Missense	4/13	-
12-57605313-G-A	LRP1	c.13135G>A	p.Gly4379Ser	Missense	85/89	-
10-50732202-T-G	ERCC6	c.1274A>C	p.Asp425Ala	Missense	5/21	-
12-7242740-C-G	C1R	c.336G>C	-	missense_variant	3/9	-
19-6718146-T-G	C3	c.463A>C	p.Lys155Gln	Missense	4/41	-
1-57351704-G-T	C8A	c.960G>T	p.Glu320Asp	Missense	7/11	-
1-161487823-A-C	FCGR2A	c.836A>C	p.Asp279Ala	Missense	7/7	-
1-196706677-G-A	CFH	c.2669G>A	p.Ser890Asn	Missense	17/22	-
1-196706677-G-C	CFH	c.2669G>C	p.Ser890Thr	Missense	17/22	-
6-169053866-G-A	SMOC2	c.1243G>A	p.Val415Met	Missense	11/13	-
6-161162369-T-A	PLG	c.2045T>A	p.Ile682Asn	Missense	17/19	-
12-20769270-G-A	PDE3A	c.1376G>A	p.Arg459Gln	Missense	4/16	-
7-2752065-G-A	AMZ1	c.1050G>A	p.Ser350Ser	Synonymous	7/7	-
3-48622995-C-T	COL7A1	c.3889G>A	p.Glu1297Lys	Missense	31/118	-
9-15211342-T-C	TTC39B	c.536A>G	p.Gln179Arg	Missense	5/20	-
4-55984959-C-G	KDR	c.170G>C	p.Arg57Thr	Missense	3/30	-
4-55984959-C-T	KDR	c.170G>A	p.Arg57Lys	Missense	3/30	-
16-81298301-T-C	BCO1	c.528T>C	p.Asp176Asp	Synonymous	5/11	-
5-41150035-A-T	C6	c.2381+2T>A	-	IntronicSNV	-	16/17
5-41150035-A-G	C6	c.2381+2T>C	-	IntronicSNV	-	16/17
12-7173893-G-A	C1S	c.943G>A	p.Asp315Asn	Missense	8/12	-
1-186052024-G-A	HMCN1	c.8815G>A	p.Gly2939Ser	Missense	57/107	-
2-69746142-C-G	AAK1	c.1441G>C	p.Ala481Pro	Missense	12/22	-
3-107517460-C-T	BBX	c.2354C>T	p.Thr785Met	Missense	15/17	-
10-105792717-G-A	COL17A1	c.4304C>T	p.Ala1435Val	Missense	54/56	-
20-23065548-C-A	CD93	c.1282G>T	p.Val428Leu	Missense	1/2	-
6-31727989-A-G	MSH5	c.1808A>G	p.Lys603Arg	Missense	19/25	-
1-186014876-G-A	HMCN1	c.6361G>A	p.Val2121Met	Missense	41/107	-
1-226026377-C-T	EPHX1	c.387C>T	p.His129His	Synonymous	4/9	-
1-11105542-C-T	MASP2	c.467G>A	p.Cys156Tyr	Missense	4/11	-
19-31770506-C-A	TSHZ3	c.193G>T	p.Ala65Ser	Missense	2/2	-
19-31770506-C-T	TSHZ3	c.193G>A	p.Ala65Thr	Missense	2/2	-
20-44639599-C-G	MMP9	c.559C>G	p.Leu187Val	Missense	4/13	-
7-2752383-C-T	AMZ1	c.1368C>T	p.Ser456Ser	Synonymous	7/7	-
1-196928188-A-G	CFHR2	c.791A>G	p.Tyr264Cys	Missense	5/5	-
6-35285719-A-C	DEF6	c.859A>C	p.Asn287His	Missense	6/11	-
11-10508903-G-T	AMPD3	c.958G>T	p.Val320Leu	Missense	6/15	-
11-10508903-G-A	AMPD3	c.958G>A	p.Val320Met	Missense	6/15	-
7-100016781-T-C	ZCWPW1	c.314A>G	p.Glu105Gly	Missense	5/18	-
10-55944995-C-T	PCDH15	c.1339G>A	p.Asp447Asn	Missense	12/33	-
3-186944222-T-C	MASP1	c.1528A>G	p.Ser510Gly	Missense	12/16	-
6-31939898-C-T	STK19	c.125C>T	p.Ala42Val	Missense	1/8	-
4-128595296-A-T	INTU	c.1109A>T	p.Asn370Ile	Missense	6/16	-
1-22964120-C-G	C1QA	c.11C>G	p.Pro4Arg	Missense	2/3	-
1-207641950-C-T	CR2	c.524C>T	p.Pro175Leu	Missense	3/19	-
2-21260934-G-A	APOB	c.433C>T	p.Pro145Ser	Missense	5/29	-
2-21260934-G-C	APOB	c.433C>G	p.Pro145Ala	Missense	5/29	-
4-110687712-T-G	CFI	c.326A>C	p.Glu109Ala	Missense	2/13	-
7-99474007-T-C	OR2AE1	c.650A>G	p.Tyr217Cys	Missense	1/1	-
17-37243923-G-A	PLXDC1	c.844C>T	p.Arg282Cys	Missense	8/14	-
15-66853414-G-A	LCTL	c.635C>T	p.Thr212Met	Missense	7/14	-
21-47552006-G-A	COL6A2	c.2600G>A	p.Arg867Gln	Missense	28/28	-
4-55131118-C-T	PDGFRA	c.661C>T	p.Leu221Phe	Missense	5/23	-
1-185964136-C-T	HMCN1	c.3695C>T	p.Thr1232Met	Missense	24/107	-
21-47552006-G-T	COL6A2	c.2600G>T	p.Arg867Leu	Missense	28/28	-
4-110638824-C-T	PLA2G12A	c.331G>A	p.Asp111Asn	Missense	3/4	-
1-173873176-C-A	SERPINC1	c.1246G>T	p.Ala416Ser	Missense	7/7	-
8-2037874-C-T	MYOM2	c.1688C>T	p.Thr563Met	Missense	15/37	-
9-101908365-T-G	TGFBR1	c.900-402T>G	-	IntronicSNV	-	5/7
5-169111233-C-T	DOCK2	c.640C>T	p.Arg214Trp	Missense	8/52	-
13-47409048-G-A	HTR2A	c.1340C>T	p.Ala447Val	Missense	4/4	-
6-32185028-C-A	NOTCH4	c.1640G>T	p.Arg547Leu	Missense	10/30	-
3-52556184-C-G	STAB1	c.6403C>G	p.Pro2135Ala	Missense	59/69	-
17-73738809-C-T	ITGB4	c.2929C>T	p.Arg977Cys	Missense	25/40	-
4-110670749-C-T	CFI	c.950G>A	p.Arg317Gln	Missense	9/13	-
13-28964035-T-A	FLT1	c.1867A>T	p.Ile623Phe	Missense	13/30	-
13-28964035-T-C	FLT1	c.1867A>G	p.Ile623Val	Missense	13/30	-
4-110681789-G-T	CFI	c.662C>A	p.Ser221Tyr	Missense	5/13	-
15-62315982-T-C	VPS13C	c.386-263A>G	-	IntronicSNV	-	5/82
9-77684824-G-A	NMRK1	c.304C>T	p.Leu102Phe	Missense	5/9	-
7-75401263-C-T	CCL26	c.132G>A	p.Trp44*	Nonsense	3/4	-
2-54080702-A-C	GPR75-ASB3	c.101+6263T>G	-	IntronicSNV	-	1/9
17-1674431-C-T	SERPINF1	c.392C>T	p.Ala131Val	Missense	4/8	-
3-99979884-C-G	TBC1D23	c.22C>G	p.Pro8Ala	Missense	1/18	-
3-99979884-C-T	TBC1D23	c.22C>T	p.Pro8Ser	Missense	1/18	-
8-18393438-G-C	PSD3	c.2959C>G	p.Leu987Val	Missense	16/16	-
8-18393438-G-A	PSD3	c.2959C>T	p.Leu987Phe	Missense	16/16	-
1-110257854-C-T	GSTM5	c.559C>T	p.Arg187Cys	Missense	7/8	-
1-63063465-C-T	ANGPTL3	c.228C>T	p.Asn76Asn	Synonymous	1/7	-
8-2092718-C-T	MYOM2	c.4211C>T	p.Thr1404Ile	Missense	37/37	-
6-169626325-C-T	THBS2	c.2488G>A	p.Gly830Ser	Missense	17/23	-
17-21207838-G-C	MAP2K3	c.669G>C	p.Met223Ile	Missense	8/12	-
11-68191036-G-A	LRP5	c.3107G>A	p.Arg1036Gln	Missense	14/23	-
11-68191036-G-T	LRP5	c.3107G>T	p.Arg1036Leu	Missense	14/23	-
5-5140798-C-T	ADAMTS16	c.94C>T	p.Pro32Ser	Missense	2/23	-
6-32149219-G-A	AGER	c.1027C>T	p.Leu343Leu	Synonymous	10/11	-
3-50655190-G-T	MAPKAPK3	c.194G>T	p.Arg65Leu	Missense	2/11	-
19-6667151-C-T	TNFSF14	c.271G>A	p.Glu91Lys	Missense	4/5	-
16-23099059-T-A	USP31	c.1513A>T	p.Thr505Ser	Missense	8/16	-
1-233231463-T-A	PCNX2	c.3946+38A>T	-	IntronicSNV	-	22/33
6-31732097-G-A	SAPCD1	c.406G>A	p.Glu136Lys	Missense	4/5	-
19-8434123-G-C	ANGPTL4	c.568G>C	p.Glu190Gln	Missense	4/7	-
3-93595918-T-C	PROS1	c.1762A>G	p.Thr588Ala	Missense	14/15	-
9-77684824-G-C	NMRK1	c.304C>G	p.Leu102Val	Missense	5/9	-
20-60901932-C-T	LAMA5	c.5203G>A	p.Val1735Met	Missense	39/80	-
9-123785738-G-T	C5	c.1060C>A	p.Leu354Met	Missense	10/41	-
7-150708035-A-T	NOS3	c.2945A>T	p.Gln982Leu	Missense	23/27	-
21-47544833-C-T	COL6A2	c.1769C>T	p.Thr590Met	Missense	23/28	-
9-135779052-G-A	TSC1	c.2194C>T	p.His732Tyr	Missense	17/23	-
10-81372166-C-T	SFTPA1	c.271C>T	p.Pro91Ser	Missense	4/6	-
2-215910574-G-T	ABCA12	c.859C>A	p.Arg287Arg	Synonymous	7/53	-
20-10622214-C-A	JAG1	c.2810G>T	p.Arg937Leu	Missense	23/26	-
16-23080375-C-G	USP31	c.3051G>C	p.Lys1017Asn	Missense	16/16	-
20-10622214-C-T	JAG1	c.2810G>A	p.Arg937Gln	Missense	23/26	-
9-15175098-G-A	TTC39B	c.1877C>T	p.Pro626Leu	Missense	19/20	-
4-57777171-C-G	REST	c.367C>G	p.Pro123Ala	Missense	2/4	-
10-135351264-G-T	CYP2E1	c.1165G>T	p.Val389Leu	Missense	8/9	-
9-101817602-G-A	COL15A1	c.3140G>A	p.Gly1047Asp	Missense	34/42	-
10-81372166-C-G	SFTPA1	c.271C>G	p.Pro91Ala	Missense	4/6	-
5-35065513-T-A	PRLR	c.1547A>T	p.Asn516Ile	Missense	10/10	-
7-100403131-C-A	EPHB4	c.2670G>T	p.Glu890Asp	Missense	15/17	-
15-42193356-G-T	EHD4	c.1113C>A	p.Phe371Leu	Missense	6/6	-
7-99490052-C-T	TRIM4	c.1237G>A	p.Asp413Asn	Missense	7/7	-
7-99490052-C-A	TRIM4	c.1237G>T	p.Asp413Tyr	Missense	7/7	-
1-232539219-C-T	SIPA1L2	c.4915G>A	p.Gly1639Ser	Missense	19/21	-
22-38478793-C-T	SLC16A8	c.88G>A	p.Gly30Ser	Missense	2/5	-
17-76400105-T-G	PGS1	c.1337T>G	p.Leu446Arg	Missense	7/10	-
6-161006084-G-T	LPA	c.4283C>A	p.Pro1428Gln	Missense	26/39	-
4-57843300-T-C	NOA1	c.452A>G	p.Gln151Arg	Missense	1/7	-
3-49548225-G-C	DAG1	c.258G>C	p.Leu86Phe	Missense	5/6	-
1-196712596-A-T	CFH	c.3148A>T	p.Asn1050Tyr	Missense	20/22	-
1-176659510-C-T	PAPPA2	c.2375C>T	p.Thr792Ile	Missense	5/23	-
2-46842119-A-G	PIGF	c.185T>C	p.Val62Ala	Missense	2/7	-
1-120468201-A-T	NOTCH2	c.4238T>A	p.Leu1413His	Missense	25/34	-
9-77683924-T-G	NMRK1	c.484A>C	p.Thr162Pro	Missense	7/9	-
3-118621387-G-T	IGSF11	c.1276C>A	p.Arg426Arg	Synonymous	7/7	-
7-73013995-G-A	MLXIPL	c.932C>T	p.Pro311Leu	Missense	8/17	-
1-232539219-C-G	SIPA1L2	c.4915G>C	p.Gly1639Arg	Missense	19/21	-
1-57341803-G-A	C8A	c.385G>A	p.Asp129Asn	Missense	4/11	-
9-136302010-C-T	ADAMTS13	c.1370C>T	p.Pro457Leu	Missense	12/29	-
12-58159173-C-G	CYP27B1	c.496G>C	p.Val166Leu	Missense	3/9	-
19-1056169-G-A	ABCA7	c.4343G>A	p.Gly1448Asp	Missense	32/47	-
4-110682801-T-A	CFI	c.530A>T	p.Asn177Ile	Missense	4/13	-
17-61562373-A-G	ACE	c.1922-224A>G	-	IntronicSNV	-	12/24
13-29001349-T-G	FLT1	c.1383A>C	p.Gln461His	Missense	10/30	-
13-29001349-T-C	FLT1	c.1383A>G	p.Gln461Gln	Synonymous	10/30	-
13-95735484-T-C	ABCC4	c.2596A>G	p.Ile866Val	Missense	21/31	-
15-42442838-C-T	PLA2G4F	c.739G>A	p.Val247Met	Missense	8/20	-
19-54848172-G-C	LILRA4	c.1195C>G	p.Arg399Gly	Missense	6/8	-
19-54848172-G-A	LILRA4	c.1195C>T	p.Arg399Cys	Missense	6/8	-
1-161645058-T-C	FCGR2B	c.772T>C	p.Tyr258His	Missense	6/8	-
1-161645058-T-G	FCGR2B	c.772T>G	p.Tyr258Asp	Missense	6/8	-
2-21225500-A-G	APOB	c.12794T>C	p.Val4265Ala	Missense	29/29	-
5-139936825-G-C	SRA1	c.94C>G	p.Gln32Glu	Missense	2/5	-
3-46307313-A-G	CCR3	c.718A>G	p.Ile240Val	Missense	3/3	-
7-99798530-C-T	STAG3	c.1999C>T	p.Arg667Cys	Missense	19/34	-
7-99798530-C-A	STAG3	c.1999C>A	p.Arg667Ser	Missense	19/34	-
10-50667120-T-G	ERCC6	c.4223A>C	p.Glu1408Ala	Missense	21/21	-
2-215917233-G-A	ABCA12	c.485C>T	p.Ala162Val	Missense	5/53	-
9-135772014-C-T	TSC1	c.3103G>A	p.Gly1035Ser	Missense	23/23	-
21-47551964-G-A	COL6A2	c.2558G>A	p.Arg853Gln	Missense	28/28	-
6-29911284-T-A	HLA-A	c.583T>A	p.Tyr195Asn	Missense	3/8	-
1-226033035-T-A	EPHX1	c.1355T>A	p.Leu452Gln	Missense	9/9	-
4-57829669-G-C	NOA1	c.2044C>G	p.Pro682Ala	Missense	7/7	-
11-116707044-A-T	APOA1	c.284T>A	p.Phe95Tyr	Missense	4/4	-
9-137309155-G-A	RXRA	c.762G>A	p.Met254Ile	Missense	5/10	-
6-160969693-T-G	LPA	c.4974-2A>C	-	IntronicSNV	-	30/38
2-3673680-A-G	COLEC11	c.203-11443A>G	-	IntronicSNV	-	3/6
12-73056956-G-A	TRHDE	c.3056G>A	p.Gly1019Glu	Missense	19/19	-
9-133928352-G-C	LAMC3	c.1939G>C	p.Gly647Arg	Missense	11/28	-
9-133928352-G-A	LAMC3	c.1939G>A	p.Gly647Ser	Missense	11/28	-
3-52556127-A-G	STAB1	c.6346A>G	p.Thr2116Ala	Missense	59/69	-
7-2752383-C-A	AMZ1	c.1368C>A	p.Ser456Arg	Missense	7/7	-
9-125152621-G-A	PTGS1	c.1441G>A	p.Val481Ile	Missense	10/11	-
7-99445188-G-T	CYP3A43	c.341-8026G>T	-	IntronicSNV	-	4/9
7-99445188-G-A	CYP3A43	c.341-8026G>A	-	IntronicSNV	-	4/9
1-15832495-T-G	CASP9	c.461A>C	p.His154Pro	Missense	5/9	-
15-62219337-G-A	VPS13C	c.6340C>T	p.Leu2114Phe	Missense	50/83	-
6-30529700-C-T	PRR3	c.259C>T	p.Arg87Trp	Missense	3/4	-
8-2000428-G-A	MYOM2	c.260G>A	p.Ser87Asn	Missense	3/37	-
8-2000428-G-T	MYOM2	c.260G>T	p.Ser87Ile	Missense	3/37	-
2-227920747-C-T	COL4A4	c.2630G>A	p.Arg877Gln	Missense	30/48	-
10-88419700-G-T	OPN4	c.849G>T	p.Trp283Cys	Missense	6/10	-
6-31837009-G-C	SLC44A4	c.1030C>G	p.Gln344Glu	Missense	12/20	-
14-92403294-C-T	FBLN5	c.376G>A	p.Val126Met	Missense	4/11	-
18-49867224-T-C	DCC	c.67T>C	p.Phe23Leu	Missense	1/29	-
20-60902965-G-A	LAMA5	c.4754C>T	p.Ala1585Val	Missense	36/80	-
20-61453149-T-C	COL9A3	c.410T>C	p.Leu137Pro	Missense	8/32	-
5-39308335-C-T	C9	c.1237G>A	p.Ala413Thr	Missense	8/11	-
2-189861933-C-A	COL3A1	c.1804C>A	p.Pro602Thr	Missense	25/51	-
2-189861933-C-G	COL3A1	c.1804C>G	p.Pro602Ala	Missense	25/51	-
6-161007619-G-A	LPA	c.3991C>T	p.Arg1331Cys	Missense	25/39	-
6-161007619-G-T	LPA	c.3991C>A	p.Arg1331Ser	Missense	25/39	-
20-23028659-G-T	THBD	c.1483C>A	p.Pro495Thr	Missense	1/1	-
7-2752322-C-T	AMZ1	c.1307C>T	p.Ala436Val	Missense	7/7	-
6-30570113-T-G	PPP1R10	c.2313A>C	p.Glu771Asp	Missense	19/20	-
2-113539246-C-T	IL1A	c.254G>A	p.Arg85Gln	Missense	4/7	-
11-85701307-T-C	PICALM	c.1394A>G	p.His465Arg	Missense	13/20	-
2-215852398-T-C	ABCA12	c.3949A>G	p.Met1317Val	Missense	27/53	-
1-218520315-G-A	TGFB2	c.272G>A	p.Arg91His	Missense	1/7	-
1-232534919-C-T	SIPA1L2	c.5123G>A	p.Arg1708Gln	Missense	21/21	-
12-48380926-G-A	COL2A1	c.1300C>T	p.Pro434Ser	Missense	21/54	-
16-23079872-C-T	USP31	c.3554G>A	p.Arg1185Gln	Missense	16/16	-
16-23079872-C-G	USP31	c.3554G>C	p.Arg1185Pro	Missense	16/16	-
16-23079872-C-A	USP31	c.3554G>T	p.Arg1185Leu	Missense	16/16	-
4-76924756-T-C	CXCL9	c.373A>G	p.Thr125Ala	Missense	4/4	-
6-31836994-C-G	SLC44A4	c.1045G>C	p.Ala349Pro	Missense	12/20	-
6-31836994-C-T	SLC44A4	c.1045G>A	p.Ala349Thr	Missense	12/20	-
2-21229905-T-C	APOB	c.9835A>G	p.Ser3279Gly	Missense	26/29	-
1-183105709-G-A	LAMC1	c.4303G>A	p.Ala1435Thr	Missense	25/28	-
6-30647035-G-T	PPP1R18	c.1743C>A	p.Asp581Glu	Missense	2/3	-
4-110681763-C-T	CFI	c.688G>A	p.Val230Met	Missense	5/13	-
6-31931747-G-A	SKIV2L	c.1705G>A	p.Val569Met	Missense	16/28	-
4-69795670-G-A	UGT2A3	c.1445C>T	p.Thr482Ile	Missense	6/6	-
17-1673303-C-G	SERPINF1	c.242C>G	p.Ser81Cys	Missense	3/8	-
7-99564870-C-T	AZGP1	c.653G>A	p.Gly218Glu	Missense	4/4	-
1-151508290-A-G	CGN	c.3113A>G	p.Glu1038Gly	Missense	18/21	-
10-81318681-G-C	SFTPA2	c.253C>G	p.Arg85Gly	Missense	4/6	-
10-81318681-G-A	SFTPA2	c.253C>T	p.Arg85Cys	Missense	4/6	-
15-42436737-C-T	PLA2G4F	c.1886G>A	p.Arg629His	Missense	17/20	-
19-5844406-G-A	FUT3	c.445C>T	p.Leu149Leu	Synonymous	3/3	-
4-76943947-G-A	CXCL10	c.85C>T	p.Arg29Cys	Missense	2/4	-
4-76943947-G-T	CXCL10	c.85C>A	p.Arg29Ser	Missense	2/4	-
16-2112558-G-A	TSC2	c.1318G>A	p.Gly440Ser	Missense	13/42	-
3-107491892-G-T	BBX	c.1324G>T	p.Ala442Ser	Missense	11/17	-
17-1673303-C-A	SERPINF1	c.242C>A	p.Ser81Tyr	Missense	3/8	-
7-99564870-C-G	AZGP1	c.653G>C	p.Gly218Ala	Missense	4/4	-
4-69796307-C-T	UGT2A3	c.1261G>A	p.Glu421Lys	Missense	5/6	-
3-48613683-G-A	COL7A1	c.5819C>T	p.Pro1940Leu	Missense	70/118	-
20-10625624-C-T	JAG1	c.2231G>A	p.Arg744Gln	Missense	18/26	-
20-61458135-G-A	COL9A3	c.755G>A	p.Arg252Gln	Missense	15/32	-
8-2033495-G-T	MYOM2	c.1617G>T	p.Lys539Asn	Missense	14/37	-
15-81592311-C-T	IL16	c.2644C>T	p.Arg882Trp	Missense	14/19	-
20-60893635-C-G	LAMA5	c.7114G>C	p.Asp2372His	Missense	53/80	-
20-60893635-C-T	LAMA5	c.7114G>A	p.Asp2372Asn	Missense	53/80	-
16-2133798-G-A	TSC2	c.3986G>A	p.Arg1329His	Missense	33/42	-
6-31836976-G-A	SLC44A4	c.1063C>T	p.Pro355Ser	Missense	12/20	-
9-101767303-G-A	COL15A1	c.1324G>A	p.Ala442Thr	Missense	9/42	-
9-101767303-G-T	COL15A1	c.1324G>T	p.Ala442Ser	Missense	9/42	-
4-84216649-G-A	HPSE	c.1480C>T	p.Gln494*	Nonsense	13/13	-
1-63063616-C-T	ANGPTL3	c.379C>T	p.Leu127Phe	Missense	1/7	-
1-183079729-C-T	LAMC1	c.961C>T	p.Pro321Ser	Missense	4/28	-
17-6908625-G-A	ALOX12	c.1211G>A	p.Arg404Gln	Missense	9/14	-
5-141993631-C-T	FGF1	c.62G>A	p.Gly21Glu	Missense	2/4	-
2-21232455-A-C	APOB	c.7285T>G	p.Ser2429Ala	Missense	26/29	-
15-39885869-G-C	THBS1	c.3267G>C	p.Gln1089His	Missense	19/22	-
11-68177524-C-T	LRP5	c.2234C>T	p.Ala745Val	Missense	10/23	-
11-68177524-C-A	LRP5	c.2234C>A	p.Ala745Glu	Missense	10/23	-
1-151503071-G-C	CGN	c.2420G>C	p.Arg807Pro	Missense	13/21	-
2-21232455-A-T	APOB	c.7285T>A	p.Ser2429Thr	Missense	26/29	-
2-227917090-T-C	COL4A4	c.2899A>G	p.Ile967Val	Missense	32/48	-
16-53860139-G-A	FTO	c.487G>A	p.Ala163Thr	Missense	3/9	-
2-215821412-C-T	ABCA12	c.6208G>A	p.Val2070Ile	Missense	42/53	-
2-215821412-C-G	ABCA12	c.6208G>C	p.Val2070Leu	Missense	42/53	-
9-136302063-C-T	ADAMTS13	c.1423C>T	p.Pro475Ser	Missense	12/29	-
20-44639599-C-T	MMP9	c.559C>T	p.Leu187Phe	Missense	4/13	-
7-100014021-C-T	ZCWPW1	c.538G>A	p.Glu180Lys	Missense	7/18	-
8-2041834-A-C	MYOM2	c.2041A>C	p.Ile681Leu	Missense	17/37	-
6-401527-C-G	IRF4	c.846C>G	p.Asp282Glu	Missense	7/9	-
3-48629340-G-A	COL7A1	c.1348C>T	p.Arg450Cys	Missense	10/118	-
9-101782725-G-A	COL15A1	c.1701+1G>A	-	IntronicSNV	-	12/41
9-101782725-G-T	COL15A1	c.1701+1G>T	-	IntronicSNV	-	12/41
9-15187992-A-T	TTC39B	c.1372T>A	p.Cys458Ser	Missense	14/20	-
17-80320049-G-A	TEX19	c.23G>A	p.Arg8Gln	Missense	2/2	-
6-32011639-T-C	TNXB	c.11411A>G	p.Gln3804Arg	Missense	35/44	-
19-6707129-G-A	C3	c.2203C>T	p.Arg735Trp	Missense	17/41	-
22-38565343-C-T	PLA2G6	c.91G>A	p.Asp31Asn	Missense	2/16	-
19-54848145-G-C	LILRA4	c.1222C>G	p.His408Asp	Missense	6/8	-
20-60928304-A-G	LAMA5	c.454T>C	p.Phe152Leu	Missense	3/80	-
6-31544562-C-T	TNF	c.251C>T	p.Pro84Leu	Missense	3/4	-
6-31544562-C-G	TNF	c.251C>G	p.Pro84Arg	Missense	3/4	-
4-110681781-C-T	CFI	c.670G>A	p.Asp224Asn	Missense	5/13	-
12-29423524-G-T	FAR2	c.142G>T	p.Ala48Ser	Missense	2/12	-
12-29423524-G-A	FAR2	c.142G>A	p.Ala48Thr	Missense	2/12	-
9-137801759-T-C	FCN1	c.866A>G	p.Asn289Ser	Missense	9/9	-
21-47536717-G-A	COL6A2	c.988G>A	p.Asp330Asn	Missense	10/28	-
4-110681450-C-T	CFI	c.859G>A	p.Gly287Arg	Missense	6/13	-
3-107435532-C-T	BBX	c.241C>T	p.Arg81Trp	Missense	5/17	-
1-196695675-G-T	CFH	c.1949G>T	p.Gly650Val	Missense	13/22	-
20-61449904-C-T	COL9A3	c.182C>T	p.Pro61Leu	Missense	3/32	-
15-38228620-G-A	TMCO5A	c.96G>A	p.Gln32Gln	Synonymous	3/12	-
13-111164315-C-T	COL4A2	c.4916C>T	p.Ser1639Leu	Missense	48/48	-
4-110908933-T-C	EGF	c.2525T>C	p.Met842Thr	Missense	17/23	-
7-150693604-G-C	NOS3	c.383G>C	p.Arg128Pro	Missense	4/27	-
7-150693604-G-A	NOS3	c.383G>A	p.Arg128Gln	Missense	4/27	-
4-110667590-C-T	CFI	c.1217G>A	p.Arg406His	Missense	11/13	-
13-47303075-C-T	LRCH1	c.1858C>T	p.Arg620Cys	Missense	17/19	-
20-56728632-G-A	C20orf85	c.101G>A	p.Arg34Gln	Missense	2/4	-
8-6479161-A-T	MCPH1	c.2401A>T	p.Ser801Cys	Missense	13/14	-
8-6479161-A-G	MCPH1	c.2401A>G	p.Ser801Gly	Missense	13/14	-
8-18258126-A-G	NAT2	c.613A>G	p.Met205Val	Missense	2/2	-
19-47844951-C-G	C5AR2	c.895C>G	p.Leu299Val	Missense	2/2	-
17-74383648-C-T	SPHK1	c.1178C>T	p.Pro393Leu	Missense	6/6	-
9-21077313-G-C	IFNB1	c.556C>G	p.Arg186Gly	Missense	1/1	-
12-12279793-C-A	LRP6	c.4144G>T	p.Val1382Phe	Missense	20/23	-
9-133928352-G-T	LAMC3	c.1939G>T	p.Gly647Cys	Missense	11/28	-
8-2040288-G-A	MYOM2	c.1943G>A	p.Cys648Tyr	Missense	16/37	-
1-103355059-G-T	COL11A1	c.4068C>A	p.Asp1356Glu	Missense	57/65	-
1-68910315-C-T	RPE65	c.394G>A	p.Ala132Thr	Missense	5/14	-
6-30632655-T-C	DHX16	c.1240A>G	p.Asn414Asp	Missense	7/20	-
8-27462662-G-A	CLU	c.608C>T	p.Thr203Ile	Missense	5/9	-
14-96157206-C-T	TCL1B	c.296C>T	p.Ala99Val	Missense	2/4	-
17-73733421-G-T	ITGB4	c.2009G>T	p.Arg670Leu	Missense	17/40	-
16-31383786-C-T	ITGAX	c.2248C>T	p.Arg750Trp	Missense	18/30	-
16-31383786-C-A	ITGAX	c.2248C>A	p.Arg750Arg	Synonymous	18/30	-
11-65638718-C-T	EFEMP2	c.277G>A	p.Gly93Ser	Missense	4/11	-
2-189855743-G-A	COL3A1	c.812G>A	p.Arg271Gln	Missense	11/51	-
3-9974882-A-G	IL17RC	c.1723A>G	p.Ser575Gly	Missense	18/18	-
6-32020572-C-T	TNXB	c.8984G>A	p.Arg2995His	Missense	26/44	-
4-157891963-C-A	PDGFC	c.93G>T	p.Gln31His	Missense	1/6	-
4-110681708-C-T	CFI	c.743G>A	p.Gly248Glu	Missense	5/13	-
2-206590654-C-T	NRP2	c.838C>T	p.Pro280Ser	Missense	6/17	-
2-21228263-G-A	APOB	c.11477C>T	p.Thr3826Met	Missense	26/29	-
2-21228263-G-T	APOB	c.11477C>A	p.Thr3826Lys	Missense	26/29	-
21-47552449-A-C	COL6A2	c.3043A>C	p.Ile1015Leu	Missense	28/28	-
17-33269927-T-C	CCT6B	c.615-2A>G	-	IntronicSNV	-	5/13
17-33269927-T-G	CCT6B	c.615-2A>C	-	IntronicSNV	-	5/13
7-143088584-C-T	EPHA1	c.2897G>A	p.Arg966His	Missense	18/18	-
4-178359970-A-C	AGA	c.436T>G	p.Leu146Val	Missense	4/9	-
16-53321892-A-G	CHD9	c.5213A>G	p.Lys1738Arg	Missense	27/39	-
4-41015942-A-G	APBB2	c.493T>C	p.Tyr165His	Missense	6/17	-
8-20036702-C-T	SLC18A1	c.418G>A	p.Gly140Arg	Missense	4/17	-
16-2133701-G-A	TSC2	c.3889G>A	p.Ala1297Thr	Missense	33/42	-
1-155030534-G-A	ADAM15	c.1624G>A	p.Ala542Thr	Missense	14/21	-
1-161642981-C-T	FCGR2B	c.608C>T	p.Thr203Met	Missense	4/8	-
3-48621017-G-A	COL7A1	c.4373C>T	p.Pro1458Leu	Missense	40/118	-
16-2112989-G-A	TSC2	c.1378G>A	p.Ala460Thr	Missense	14/42	-
12-120660780-C-T	PXN	c.379G>A	p.Ala127Thr	Missense	4/11	-
12-120660780-C-G	PXN	c.379G>C	p.Ala127Pro	Missense	4/11	-
7-99809499-G-A	STAG3	c.3597G>A	p.Met1199Ile	Missense	32/34	-
1-57409459-C-A	C8B	c.1144G>T	p.Asp382Tyr	Missense	8/12	-
6-31747833-G-A	VARS	c.3023C>T	p.Pro1008Leu	Missense	26/30	-
15-62204043-G-A	VPS13C	c.8582C>T	p.Ser2861Leu	Missense	61/83	-
6-30681090-G-A	MDC1	c.629C>T	p.Pro210Leu	Missense	5/15	-
21-46932115-G-A	COL18A1	c.4354G>A	-	missense_variant	41/41	-
9-137804881-G-A	FCN1	c.449C>T	p.Thr150Met	Missense	6/9	-
17-48629370-G-A	SPATA20	c.1786G>A	p.Val596Met	Missense	14/17	-
13-47260054-T-C	LRCH1	c.700T>C	p.Ser234Pro	Missense	5/19	-
1-196684857-GTG-ATC	CFH	c.1654_1656delGTGinsATC	p.Val552Ile	Missense	11/22	-
8-2041820-C-T	MYOM2	c.2027C>T	p.Thr676Met	Missense	17/37	-
17-37226111-C-T	PLXDC1	c.1381G>A	p.Glu461Lys	Missense	13/14	-
1-22964189-G-A	C1QA	c.80G>A	p.Arg27Gln	Missense	2/3	-
2-21224850-T-C	APOB	c.13444A>G	p.Ile4482Val	Missense	29/29	-
1-186113727-G-A	HMCN1	c.14158G>A	p.Ala4720Thr	Missense	91/107	-
8-23106860-C-T	CHMP7	c.437C>T	p.Ala146Val	Missense	3/11	-
5-169310407-C-T	DOCK2	c.2799+42551C>T	-	IntronicSNV	-	27/51
5-169310407-C-G	DOCK2	c.2799+42551C>G	-	IntronicSNV	-	27/51
16-31391381-G-A	ITGAX	c.3055G>A	p.Val1019Met	Missense	26/30	-
6-32041621-G-A	TNXB	c.4484C>T	p.Thr1495Ile	Missense	12/44	-
4-37444961-G-A	NWD2	c.1351G>A	p.Val451Met	Missense	7/7	-
1-249211619-G-A	PGBD2	c.83G>A	p.Arg28Gln	Missense	3/3	-
6-31855727-C-T	EHMT2	c.1757G>A	p.Arg586Gln	Missense	14/28	-
8-23049208-C-A	TNFRSF10A	c.1406G>T	-	Missense	10/10	-
1-57333311-C-T	C8A	c.107C>T	p.Ala36Val	Missense	2/11	-
9-107589238-C-G	ABCA1	c.2328G>C	p.Lys776Asn	Missense	16/50	-
4-37445144-A-G	NWD2	c.1534A>G	p.Ile512Val	Missense	7/7	-
10-55600246-G-T	PCDH15	c.3817C>A	p.Arg1273Ser	Missense	29/33	-
8-116631660-T-C	TRPS1	c.665A>G	p.Asn222Ser	Missense	3/7	-
1-120548095-C-T	NOTCH2	c.272G>A	p.Arg91Gln	Missense	3/34	-
16-31340609-G-T	ITGAM	c.2853G>T	p.Met951Ile	Missense	24/30	-
11-36614215-T-C	RAG2	c.1504A>G	p.Met502Val	Missense	2/2	-
5-35065862-C-G	PRLR	c.1198G>C	p.Glu400Gln	Missense	10/10	-
9-133884693-G-T	LAMC3	c.92G>T	p.Arg31Leu	Missense	1/28	-
11-61730325-C-G	BEST1	c.1699C>G	p.Leu567Val	Missense	10/11	-
9-107582258-T-C	ABCA1	c.3053A>G	p.Asp1018Gly	Missense	21/50	-
6-31916951-T-C	CFB	c.1169-69T>C	-	IntronicSNV	-	8/17
9-87325623-C-A	NTRK2	c.500C>A	p.Ser167Tyr	Missense	8/15	-
4-69811110-A-T	UGT2A3	c.778T>A	p.Trp260Arg	Missense	2/6	-
3-9959410-G-A	IL17RC	c.119G>A	p.Arg40His	Missense	2/18	-
4-69811110-A-C	UGT2A3	c.778T>G	p.Trp260Gly	Missense	2/6	-
4-110590479-G-A	MCUB	c.451+4929G>A	-	IntronicSNV	-	4/7
4-110590479-G-T	MCUB	c.451+4929G>T	-	IntronicSNV	-	4/7
11-61730325-C-T	BEST1	c.1699C>T	p.Leu567Phe	Missense	10/11	-
4-177650866-C-A	VEGFC	c.182G>T	p.Arg61Leu	Missense	2/7	-
4-177650866-C-T	VEGFC	c.182G>A	p.Arg61Gln	Missense	2/7	-
4-69796319-T-A	UGT2A3	c.1249A>T	p.Thr417Ser	Missense	5/6	-
6-43565568-G-T	POLH	c.626G>T	p.Gly209Val	Missense	5/11	-
1-185976370-A-G	HMCN1	c.4586A>G	p.Asn1529Ser	Missense	30/107	-
1-207510733-A-G	CD55	c.1039A>G	p.Lys347Glu	Missense	8/10	-
17-48625801-A-G	SPATA20	c.283A>G	p.Asn95Asp	Missense	3/17	-
14-62204819-G-T	HIF1A	c.1264G>T	p.Asp422Tyr	Missense	10/15	-
1-207648499-G-A	CR2	c.2477G>A	p.Arg826His	Missense	13/19	-
2-21242613-G-A	APOB	c.2981C>T	p.Pro994Leu	Missense	19/29	-
2-189851842-C-T	COL3A1	c.505C>T	p.Leu169Phe	Missense	5/51	-
6-32011639-T-A	TNXB	c.11411A>T	p.Gln3804Leu	Missense	35/44	-
1-183204796-C-T	LAMC2	c.2387C>T	p.Ala796Val	Missense	16/23	-
8-123964912-G-A	ZHX2	c.1162G>A	p.Val388Ile	Missense	3/4	-
6-161152085-G-A	PLG	c.1259G>A	p.Gly420Asp	Missense	11/19	-
1-186072648-G-A	HMCN1	c.10618G>A	p.Val3540Ile	Missense	69/107	-
15-42734481-G-T	ZNF106	c.3484C>A	p.Pro1162Thr	Missense	7/19	-
20-60885242-C-T	LAMA5	c.10726G>A	p.Glu3576Lys	Missense	77/80	-
20-44637635-C-T	MMP9	c.70C>T	p.Arg24Cys	Missense	1/13	-
6-31731195-C-T	SAPCD1	c.118C>T	p.Arg40Cys	Missense	2/5	-
5-7831992-G-T	C5orf49	c.415C>A	p.Pro139Thr	Missense	3/3	-
5-7831992-G-A	C5orf49	c.415C>T	p.Pro139Ser	Missense	3/3	-
9-107599376-A-G	ABCA1	c.1196T>C	p.Val399Ala	Missense	11/50	-
16-55853498-G-C	CES1	c.852C>G	p.His284Gln	Missense	7/14	-
5-174869327-G-T	DRD1	c.776C>A	p.Ser259Tyr	Missense	2/2	-
17-66928460-T-C	ABCA8	c.766A>G	p.Thr256Ala	Missense	6/38	-
12-20522796-T-C	PDE3A	c.578T>C	p.Val193Ala	Missense	1/16	-
17-73738426-G-A	ITGB4	c.2638G>A	p.Asp880Asn	Missense	24/40	-
12-9360927-T-C	PZP	c.11A>G	p.Asp4Gly	Missense	1/36	-
6-43604268-A-G	MAD2L1BP	c.197A>G	p.Gln66Arg	Missense	2/3	-
17-33255068-C-A	CCT6B	c.1592G>T	-	Missense	14/14	-
11-36614841-T-C	RAG2	c.878A>G	p.Glu293Gly	Missense	2/2	-
4-120422407-T-G	PDE5A	c.2408A>C	p.Asp803Ala	Missense	20/21	-
16-66847575-C-T	NAE1	c.926G>A	p.Arg309His	Missense	13/20	-
4-120423809-A-T	PDE5A	c.2333T>A	p.Ile778Lys	Missense	19/21	-
4-120423809-A-G	PDE5A	c.2333T>C	p.Ile778Thr	Missense	19/21	-
20-60888510-G-A	LAMA5	c.8665C>T	p.Pro2889Ser	Missense	64/80	-
10-1284303-C-T	ADARB2	c.1252G>A	p.Gly418Ser	Missense	5/10	-
2-215798851-G-A	ABCA12	c.7631C>T	p.Thr2544Ile	Missense	52/53	-
20-61453127-G-A	COL9A3	c.388G>A	p.Gly130Ser	Missense	8/32	-
20-23064912-T-A	CD93	c.1918A>T	p.Met640Leu	Missense	1/2	-
4-1806131-T-C	FGFR3	c.1150T>C	p.Phe384Leu	Missense	9/18	-
1-186121995-A-T	HMCN1	c.15010A>T	p.Thr5004Ser	Missense	96/107	-
1-196963213-G-A	CFHR5	c.434G>A	p.Gly145Glu	Missense	4/10	-
15-75013051-C-A	CYP1A1	c.1318G>T	p.Asp440Tyr	Missense	7/7	-
5-39331786-T-C	C9	c.607A>G	p.Ile203Val	Missense	5/11	-
1-57341737-C-T	C8A	c.319C>T	p.Arg107Cys	Missense	4/11	-
1-94505604-A-C	ABCA4	c.3602T>G	p.Leu1201Arg	Missense	24/50	-
2-21224850-T-A	APOB	c.13444A>T	p.Ile4482Phe	Missense	29/29	-
2-21225912-C-T	APOB	c.12382G>A	p.Val4128Met	Missense	29/29	-
16-81298282-C-T	BCO1	c.509C>T	p.Thr170Met	Missense	5/11	-
8-2033495-G-C	MYOM2	c.1617G>C	p.Lys539Asn	Missense	14/37	-
1-206905941-G-T	MAPKAPK2	c.*505G>T	-	3-UTRSNV	10/10	-
2-227660067-C-G	IRS1	c.3388G>C	p.Gly1130Arg	Missense	1/2	-
4-177713326-T-A	VEGFC	c.140A>T	p.Glu47Val	Missense	1/7	-
20-44639214-C-T	MMP9	c.464C>T	p.Thr155Ile	Missense	3/13	-
6-31750517-T-C	VARS	c.1868A>G	p.Asn623Ser	Missense	15/30	-
17-66902302-G-A	ABCA8	c.2161C>T	p.Leu721Phe	Missense	17/38	-
16-57004889-G-A	CETP	c.528-56G>A	-	IntronicSNV	-	5/15
22-42523610-C-T	CYP2D6	c.1012G>A	p.Val338Met	Missense	7/9	-
9-137726950-C-T	COL5A1	c.5270C>T	p.Thr1757Met	Missense	65/66	-
19-31769366-C-T	TSHZ3	c.1333G>A	p.Val445Met	Missense	2/2	-
19-31769366-C-G	TSHZ3	c.1333G>C	p.Val445Leu	Missense	2/2	-
11-34475387-C-T	CAT	c.625C>T	p.His209Tyr	Missense	6/13	-
11-34475387-C-A	CAT	c.625C>A	p.His209Asn	Missense	6/13	-
11-34475387-C-G	CAT	c.625C>G	p.His209Asp	Missense	6/13	-
17-61562654-C-G	ACE	c.1979C>G	p.Ser660Cys	Missense	13/25	-
10-105800115-C-T	COL17A1	c.2755G>A	p.Asp919Asn	Missense	40/56	-
2-237489232-G-A	ACKR3	c.124G>A	p.Val42Ile	Missense	2/2	-
9-135781205-T-C	TSC1	c.1760A>G	p.Lys587Arg	Missense	15/23	-
6-76731868-C-T	IMPG1	c.631G>A	p.Asp211Asn	Missense	6/17	-
4-110662144-G-A	CFI	c.1657C>T	p.Pro553Ser	Missense	13/13	-
9-114994395-G-C	PTBP3	c.1004C>G	p.Thr335Arg	Missense	9/14	-
12-123808302-C-T	SBNO1	c.2047G>A	p.Asp683Asn	Missense	16/32	-
8-135614553-G-C	ZFAT	c.1373C>G	p.Ser458Cys	Missense	7/17	-
1-233296041-G-A	PCNX2	c.3505C>T	p.Arg1169Trp	Missense	19/34	-
3-9974543-G-C	IL17RC	c.1477+1G>C	-	IntronicSNV	-	17/17
1-22987340-G-A	C1QB	c.223G>A	p.Gly75Arg	Missense	3/3	-
2-21229446-G-C	APOB	c.10294C>G	p.Gln3432Glu	Missense	26/29	-
16-81323953-G-C	BCO1	c.1415G>C	p.Gly472Ala	Missense	11/11	-
3-46306642-G-A	CCR3	c.47G>A	p.Arg16Lys	Missense	3/3	-
16-31374624-G-A	ITGAX	c.1639G>A	p.Glu547Lys	Missense	14/30	-
16-31374624-G-C	ITGAX	c.1639G>C	p.Glu547Gln	Missense	14/30	-
3-100951820-G-A	IMPG2	c.3038C>T	p.Pro1013Leu	Missense	15/19	-
11-10521644-T-G	AMPD3	c.1596T>G	p.Phe532Leu	Missense	11/15	-
15-62212298-C-T	VPS13C	c.7316G>A	p.Arg2439His	Missense	55/83	-
6-116446506-A-T	COL10A1	c.150T>A	p.Ser50Arg	Missense	2/3	-
19-5844796-C-T	FUT3	c.55G>A	p.Ala19Thr	Missense	3/3	-
4-178283446-G-T	NEIL3	c.1639G>T	p.Ala547Ser	Missense	10/10	-
22-42523475-C-T	CYP2D6	c.1147G>A	p.Glu383Lys	Missense	7/9	-
22-42523475-C-G	CYP2D6	c.1147G>C	p.Glu383Gln	Missense	7/9	-
2-20234122-C-A	LAPTM4A	c.583G>T	p.Val195Leu	Missense	6/7	-
2-20234122-C-T	LAPTM4A	c.583G>A	p.Val195Met	Missense	6/7	-
4-178272608-G-C	NEIL3	c.944G>C	p.Arg315Pro	Missense	7/10	-
20-60898581-T-C	LAMA5	c.5995A>G	p.Thr1999Ala	Missense	45/80	-
17-61556415-G-C	ACE	c.465G>C	p.Lys155Asn	Missense	3/25	-
4-55138648-T-C	PDGFRA	c.1325T>C	p.Leu442Pro	Missense	9/23	-
15-66813452-C-T	ZWILCH	c.656C>T	p.Thr219Ile	Missense	7/19	-
10-50678884-T-G	ERCC6	c.3122A>C	p.Gln1041Pro	Missense	18/21	-
10-50678884-T-A	ERCC6	c.3122A>T	p.Gln1041Leu	Missense	18/21	-
2-206581033-G-A	NRP2	c.368G>A	p.Arg123Lys	Missense	3/17	-
1-68904660-A-C	RPE65	c.963T>G	p.Asn321Lys	Missense	9/14	-
6-32032628-C-T	TNXB	c.6811G>A	p.Val2271Met	Missense	19/44	-
6-161137790-G-C	PLG	c.782G>C	p.Arg261Pro	Missense	7/19	-
6-161137790-G-A	PLG	c.782G>A	p.Arg261His	Missense	7/19	-
1-196920053-A-G	CFHR2	c.325A>G	p.Thr109Ala	Missense	3/5	-
11-46880592-G-C	LRP4	c.5660C>G	p.Ser1887Cys	Missense	38/38	-
16-57015076-G-C	CETP	c.1153G>C	p.Val385Leu	Missense	12/16	-
20-60893697-C-T	LAMA5	c.7052G>A	p.Arg2351Gln	Missense	53/80	-
19-54848145-G-A	LILRA4	c.1222C>T	p.His408Tyr	Missense	6/8	-
8-135602591-C-T	ZFAT	c.2447G>A	p.Arg816Lys	Missense	9/17	-
16-17292204-G-A	XYLT1	c.1154C>T	p.Pro385Leu	Missense	5/12	-
15-62148607-G-A	VPS13C	c.10825C>T	p.Arg3609*	Nonsense	81/83	-
10-81372080-C-T	SFTPA1	c.185C>T	p.Pro62Leu	Missense	4/6	-
6-76640695-G-A	IMPG1	c.2218C>T	p.Leu740Phe	Missense	15/17	-
2-21227503-T-C	APOB	c.11833A>G	p.Thr3945Ala	Missense	27/29	-
9-6250600-G-A	IL33	c.217+1G>A	-	IntronicSNV	-	3/7
8-38869207-G-C	ADAM9	c.226G>C	p.Glu76Gln	Missense	3/22	-
1-161641187-C-T	FCGR2B	c.139C>T	p.Pro47Ser	Missense	3/8	-
1-196928157-C-T	CFHR2	c.760C>T	p.Arg254*	Nonsense	5/5	-
5-123983778-C-T	ZNF608	c.2299G>A	p.Gly767Arg	Missense	4/9	-
6-116381177-T-C	FRK	c.298A>G	p.Ile100Val	Missense	1/8	-
15-66845438-T-G	LCTL	c.1081A>C	p.Ser361Arg	Missense	10/14	-
4-128632210-T-C	INTU	c.2512T>C	p.Cys838Arg	Missense	14/16	-
15-42631950-C-T	GANC	c.1927C>T	p.Arg643Cys	Missense	17/24	-
11-46911956-T-C	LRP4	c.1787A>G	p.His596Arg	Missense	14/38	-
18-18571171-T-A	ROCK1	c.2109A>T	p.Gln703His	Missense	18/33	-
10-50690906-G-A	ERCC6	c.1996C>T	p.Arg666Cys	Missense	10/21	-
15-89448988-C-T	MFGE8	c.685G>A	p.Gly229Arg	Missense	5/8	-
6-116422098-C-T	NT5DC1	c.5C>T	p.Ala2Val	Missense	1/12	-
10-105800115-C-G	COL17A1	c.2755G>C	p.Asp919His	Missense	40/56	-
2-165551128-G-A	COBLL1	c.2888C>T	p.Ser963Phe	Missense	12/14	-
1-103444970-A-T	COL11A1	c.2230T>A	p.Phe744Ile	Missense	30/65	-
6-70890368-G-T	COL19A1	c.2728G>T	p.Val910Phe	Missense	44/51	-
5-41149448-C-T	C6	c.2518G>A	p.Gly840Ser	Missense	17/18	-
1-227071475-C-T	PSEN2	c.211C>T	p.Arg71Trp	Missense	5/13	-
20-60911398-G-A	LAMA5	c.2321C>T	p.Thr774Ile	Missense	18/80	-
20-23065689-C-T	CD93	c.1141G>A	p.Gly381Arg	Missense	1/2	-
19-51728729-G-A	CD33	c.293G>A	p.Arg98Lys	Missense	2/7	-
4-110687919-T-C	CFI	c.119A>G	p.His40Arg	Missense	2/13	-
1-94502906-C-T	ABCA4	c.3608G>A	p.Gly1203Glu	Missense	25/50	-
1-226026377-C-A	EPHX1	c.387C>A	p.His129Gln	Missense	4/9	-
16-57015076-G-A	CETP	c.1153G>A	p.Val385Met	Missense	12/16	-
10-135351264-G-A	CYP2E1	c.1165G>A	p.Val389Ile	Missense	8/9	-
16-17353090-G-C	XYLT1	c.668C>G	p.Ala223Gly	Missense	3/12	-
6-30548210-A-G	ABCF1	c.592A>G	p.Asn198Asp	Missense	8/25	-
4-178359960-G-C	AGA	c.446C>G	p.Thr149Ser	Missense	4/9	-
9-133948184-G-C	LAMC3	c.3379G>C	p.Glu1127Gln	Missense	19/28	-
7-2748787-T-C	AMZ1	c.680T>C	p.Val227Ala	Missense	5/7	-
21-46913477-G-C	COL18A1	c.2880G>C	p.Gln960His	Missense	25/41	-
16-76555177-A-T	CNTNAP4	c.2503A>T	-	missense_variant	17/25	-
17-61574284-C-G	ACE	c.3629C>G	p.Thr1210Arg	Missense	24/25	-
16-76555177-A-G	CNTNAP4	c.2503A>G	-	missense_variant	17/25	-
22-32914231-C-G	SYN3	c.1406G>C	p.Ser469Thr	Missense	13/14	-
22-32914231-C-T	SYN3	c.1406G>A	p.Ser469Asn	Missense	13/14	-
6-31732059-T-C	SAPCD1	c.368T>C	p.Leu123Pro	Missense	4/5	-
8-2054077-A-C	MYOM2	c.2780A>C	p.Tyr927Ser	Missense	22/37	-
1-11102940-G-A	MASP2	c.881C>T	p.Thr294Met	Missense	6/11	-
17-21208417-G-T	MAP2K3	c.751G>T	p.Val251Phe	Missense	9/12	-
6-31938188-G-C	DXO	c.880C>G	p.Arg294Gly	Missense	5/7	-
6-31938188-G-A	DXO	c.880C>T	p.Arg294Cys	Missense	5/7	-
16-76486472-A-T	CNTNAP4	c.1136A>T	-	missense_variant	9/25	-
1-196679455-A-C	CFH	c.1337-3410A>C	-	IntronicSNV	-	9/21
16-2120487-G-A	TSC2	c.1747G>A	p.Ala583Thr	Missense	17/42	-
6-30624241-T-C	DHX16	c.2357A>G	p.Tyr786Cys	Missense	15/20	-
11-46900530-T-C	LRP4	c.3064A>G	p.Asn1022Asp	Missense	22/38	-
6-31730919-C-T	SAPCD1	c.88C>T	p.Pro30Ser	Missense	1/5	-
12-125299559-G-A	SCARB1	c.386C>T	p.Ser129Leu	Missense	3/13	-
18-18546896-T-G	ROCK1	c.3334A>C	p.Thr1112Pro	Missense	27/33	-
9-130588920-G-T	ENG	c.392C>A	p.Pro131Gln	Missense	4/14	-
7-99474158-G-T	OR2AE1	c.499C>A	p.Pro167Thr	Missense	1/1	-
9-137777100-A-G	FCN2	c.317A>G	p.Lys106Arg	Missense	5/8	-
22-33255244-C-T	TIMP3	c.516C>T	p.Phe172Phe	Synonymous	5/5	-
14-62187212-G-C	HIF1A	c.148G>C	p.Val50Leu	Missense	2/15	-
1-57373737-G-T	C8A	c.1331G>T	p.Arg444Leu	Missense	9/11	-
1-57373737-G-A	C8A	c.1331G>A	p.Arg444His	Missense	9/11	-
10-105794406-G-T	COL17A1	c.3739C>A	p.Arg1247Arg	Synonymous	51/56	-
10-105794406-G-C	COL17A1	c.3739C>G	p.Arg1247Gly	Missense	51/56	-
1-196952092-C-T	CFHR5	c.136C>T	p.Pro46Ser	Missense	2/10	-
1-185976299-C-G	HMCN1	c.4515C>G	p.Asp1505Glu	Missense	30/107	-
1-94517254-C-T	ABCA4	c.2588G>A	p.Gly863Glu	Missense	17/50	-
8-38879190-C-T	ADAM9	c.701C>T	p.Ala234Val	Missense	8/22	-
14-103600056-C-T	TNFAIP2	c.1739C>T	p.Thr580Met	Missense	10/11	-
1-155028450-C-T	ADAM15	c.718C>T	p.Leu240Leu	Synonymous	8/21	-
12-9307415-G-A	PZP	c.3571C>T	p.Arg1191Cys	Missense	29/36	-
6-116446576-A-G	COL10A1	c.80T>C	p.Met27Thr	Missense	2/3	-
6-116446576-A-C	COL10A1	c.80T>G	p.Met27Arg	Missense	2/3	-
18-63476982-A-G	CDH7	c.253A>G	p.Ile85Val	Missense	3/12	-
2-228118867-G-A	COL4A3	c.805G>A	p.Glu269Lys	Missense	14/52	-
13-95705380-G-C	ABCC4	c.3425C>G	p.Thr1142Arg	Missense	27/31	-
13-95705380-G-A	ABCC4	c.3425C>T	p.Thr1142Met	Missense	27/31	-
18-18546896-T-C	ROCK1	c.3334A>G	p.Thr1112Ala	Missense	27/33	-
7-150707344-G-A	NOS3	c.2654G>A	p.Arg885Lys	Missense	21/27	-
7-150707344-G-C	NOS3	c.2654G>C	p.Arg885Thr	Missense	21/27	-
7-150707344-G-T	NOS3	c.2654G>T	p.Arg885Met	Missense	21/27	-
16-31391120-T-C	ITGAX	c.2911T>C	p.Phe971Leu	Missense	25/30	-
3-171321023-C-T	PLD1	c.3070G>A	p.Val1024Ile	Missense	27/27	-
1-196709816-G-T	CFH	c.2850G>T	p.Gln950His	Missense	18/22	-
1-196709816-G-A	CFH	c.2850G>A	p.Gln950Gln	Synonymous	18/22	-
19-6736607-A-G	GPR108	c.236T>C	p.Leu79Pro	Missense	2/18	-
3-52551973-C-A	STAB1	c.4715C>A	p.Ala1572Asp	Missense	45/69	-
1-156786487-A-T	SH2D2A	c.14T>A	p.Leu5Gln	Missense	1/9	-
9-137708884-C-T	COL5A1	c.4135C>T	p.Pro1379Ser	Missense	53/66	-
3-52554531-G-A	STAB1	c.5615G>A	p.Arg1872His	Missense	53/69	-
1-186072727-G-A	HMCN1	c.10697G>A	p.Gly3566Asp	Missense	69/107	-
17-21205561-T-C	MAP2K3	c.506T>C	p.Ile169Thr	Missense	6/12	-
20-44540037-A-G	PLTP	c.55T>C	p.Phe19Leu	Missense	2/16	-
6-31848492-G-C	EHMT2	c.3410C>G	p.Ala1137Gly	Missense	27/28	-
6-31734313-C-A	VWA7	c.2111G>T	p.Gly704Val	Missense	14/17	-
22-45960864-G-T	FBLN1	c.1698-9527G>T	-	IntronicSNV	-	14/16
22-45960864-G-A	FBLN1	c.1698-9527G>A	-	IntronicSNV	-	14/16
20-61449904-C-A	COL9A3	c.182C>A	p.Pro61Gln	Missense	3/32	-
10-105816862-C-T	COL17A1	c.1336G>A	p.Gly446Ser	Missense	17/56	-
10-105816862-C-G	COL17A1	c.1336G>C	p.Gly446Arg	Missense	17/56	-
15-75014027-A-G	CYP1A1	c.857T>C	p.Ile286Thr	Missense	3/7	-
1-120510113-G-T	NOTCH2	c.1396C>A	p.Gln466Lys	Missense	8/34	-
3-52548194-C-T	STAB1	c.3511C>T	p.Arg1171Cys	Missense	33/69	-
21-47552386-G-A	COL6A2	c.2980G>A	p.Ala994Thr	Missense	28/28	-
9-2639898-A-G	VLDLR	c.242A>G	p.Asn81Ser	Missense	3/19	-
5-35065513-T-C	PRLR	c.1547A>G	p.Asn516Ser	Missense	10/10	-
2-9633092-C-T	ADAM17	c.2017G>A	p.Val673Ile	Missense	17/19	-
15-62146742-T-C	VPS13C	c.11047A>G	p.Ile3683Val	Missense	83/83	-
6-32150086-C-T	AGER	c.902G>A	p.Cys301Tyr	Missense	8/11	-
9-107578620-G-A	ABCA1	c.3542C>T	p.Ser1181Phe	Missense	25/50	-
16-66436722-G-A	CDH5	c.2005G>A	p.Gly669Ser	Missense	12/12	-
16-17211545-C-T	XYLT1	c.2515G>A	p.Val839Ile	Missense	11/12	-
4-110681470-C-T	CFI	c.839G>A	p.Gly280Asp	Missense	6/13	-
1-203452409-G-C	PRELP	c.97G>C	p.Gly33Arg	Missense	2/3	-
11-10508903-G-C	AMPD3	c.958G>C	p.Val320Leu	Missense	6/15	-
4-55968597-G-A	KDR	c.2066C>T	p.Thr689Met	Missense	14/30	-
1-57406638-G-T	C8B	c.1282C>A	p.Arg428Arg	Synonymous	9/12	-
1-57406638-G-A	C8B	c.1282C>T	p.Arg428*	Nonsense	9/12	-
15-89453043-G-C	MFGE8	c.185C>G	p.Ala62Gly	Missense	2/8	-
6-32097421-G-C	FKBPL	c.137C>G	p.Thr46Arg	Missense	2/2	-
6-116720466-G-C	DSE	c.53G>C	p.Cys18Ser	Missense	2/6	-
7-150698349-G-A	NOS3	c.1264G>A	p.Ala422Thr	Missense	11/27	-
1-100575941-C-G	SASS6	c.768G>C	p.Glu256Asp	Missense	8/17	-
1-100575941-C-T	SASS6	c.768G>A	p.Glu256Glu	Synonymous	8/17	-
2-21230828-T-G	APOB	c.8912A>C	p.Asn2971Thr	Missense	26/29	-
8-38871509-G-A	ADAM9	c.280G>A	p.Val94Ile	Missense	4/22	-
2-21234674-C-T	APOB	c.5066G>A	p.Arg1689His	Missense	26/29	-
6-116574940-C-T	TSPYL4	c.232G>A	p.Ala78Thr	Missense	1/1	-
7-100091306-C-T	NYAP1	c.2306C>T	p.Pro769Leu	Missense	7/7	-
10-105840422-T-C	COL17A1	c.10A>G	p.Thr4Ala	Missense	2/56	-
9-120476817-G-A	TLR4	c.2411G>A	p.Arg804Gln	Missense	3/3	-
1-63063465-C-G	ANGPTL3	c.228C>G	p.Asn76Lys	Missense	1/7	-
16-53265391-T-C	CHD9	c.2347T>C	p.Phe783Leu	Missense	9/39	-
9-107594878-G-A	ABCA1	c.1486C>T	p.Arg496Trp	Missense	12/50	-
7-100004867-T-C	ZCWPW1	c.1049A>G	p.His350Arg	Missense	11/18	-
21-46897893-T-C	COL18A1	c.1761+14T>C	-	IntronicSNV	-	7/40
10-55581779-T-C	PCDH15	c.5707A>G	p.Ile1903Val	Missense	33/33	-
5-39342243-T-A	C9	c.133A>T	p.Met45Leu	Missense	2/11	-
12-57569339-G-A	LRP1	c.3644G>A	p.Gly1215Glu	Missense	23/89	-
12-57569339-G-T	LRP1	c.3644G>T	p.Gly1215Val	Missense	23/89	-
6-31687027-G-C	LY6G6C	c.224C>G	p.Ala75Gly	Missense	3/3	-
10-50680422-C-T	ERCC6	c.2924G>A	p.Arg975Gln	Missense	16/21	-
10-50680422-C-A	ERCC6	c.2924G>T	p.Arg975Leu	Missense	16/21	-
1-31347320-G-C	SDC3	c.986C>G	p.Thr329Arg	Missense	4/5	-
4-15835921-G-T	CD38	c.581G>T	p.Arg194Leu	Missense	4/8	-
4-15835921-G-A	CD38	c.581G>A	p.Arg194His	Missense	4/8	-
7-99817570-C-G	PVRIG	c.37C>G	p.Pro13Ala	Missense	2/6	-
7-99817570-C-T	PVRIG	c.37C>T	p.Pro13Ser	Missense	2/6	-
15-62212770-T-C	VPS13C	c.7010A>G	p.His2337Arg	Missense	54/83	-
15-62212770-T-A	VPS13C	c.7010A>T	p.His2337Leu	Missense	54/83	-
3-9970031-A-G	IL17RC	c.875A>G	p.Gln292Arg	Missense	10/18	-
11-1775352-C-T	CTSD	c.844G>A	p.Gly282Arg	Missense	7/9	-
7-150706640-G-A	NOS3	c.2479G>A	p.Val827Met	Missense	20/27	-
11-10518373-C-T	AMPD3	c.1472C>T	p.Ser491Leu	Missense	10/15	-
11-10518373-C-G	AMPD3	c.1472C>G	p.Ser491*	Nonsense	10/15	-
1-207641950-C-G	CR2	c.524C>G	p.Pro175Arg	Missense	3/19	-
4-187003729-C-G	TLR3	c.889C>G	p.Leu297Val	Missense	4/5	-
13-80095078-G-A	NDFIP2	c.455G>A	p.Ser152Asn	Missense	2/8	-
6-161006084-G-A	LPA	c.4283C>T	p.Pro1428Leu	Missense	26/39	-
4-57843291-C-G	NOA1	c.461G>C	p.Gly154Ala	Missense	1/7	-
4-57843291-C-T	NOA1	c.461G>A	p.Gly154Glu	Missense	1/7	-
4-57843291-C-A	NOA1	c.461G>T	p.Gly154Val	Missense	1/7	-
11-117160380-T-C	BACE1	c.1108A>G	p.Met370Val	Missense	8/8	-
20-60897158-C-A	LAMA5	c.6413G>T	p.Ser2138Ile	Missense	48/80	-
9-77684860-C-G	NMRK1	c.268G>C	p.Glu90Gln	Missense	5/9	-
1-94467548-C-G	ABCA4	c.6148G>C	p.Val2050Leu	Missense	45/50	-
6-30671760-C-T	MDC1	c.5200G>A	p.Ala1734Thr	Missense	10/15	-
4-110663647-C-T	CFI	c.1534G>A	p.Gly512Ser	Missense	12/13	-
9-137591755-C-G	COL5A1	c.278C>G	p.Ala93Gly	Missense	3/66	-
9-137591755-C-T	COL5A1	c.278C>T	p.Ala93Val	Missense	3/66	-
1-176659510-C-A	PAPPA2	c.2375C>A	p.Thr792Asn	Missense	5/23	-
6-32041543-G-A	TNXB	c.4562C>T	p.Ala1521Val	Missense	12/44	-
4-110662179-C-T	CFI	c.1622G>A	p.Trp541*	Nonsense	13/13	-
6-132645195-C-T	MOXD1	c.988G>A	p.Asp330Asn	Missense	7/12	-
6-31692395-C-T	MPIG6B	c.532C>T	p.Pro178Ser	Missense	4/6	-
11-6432089-A-C	APBB1	c.489T>G	p.Asp163Glu	Missense	2/15	-
6-30679963-A-C	MDC1	c.1756T>G	p.Ser586Ala	Missense	5/15	-
7-73010191-C-T	MLXIPL	c.2167G>A	p.Glu723Lys	Missense	14/17	-
4-110670437-C-G	CFI	c.1085G>C	p.Gly362Ala	Missense	10/13	-
1-176659510-C-G	PAPPA2	c.2375C>G	p.Thr792Ser	Missense	5/23	-
1-186024643-G-T	HMCN1	c.6981G>T	p.Met2327Ile	Missense	45/107	-
15-90342752-C-G	ANPEP	c.1858G>C	p.Val620Leu	Missense	13/21	-
20-60926766-G-A	LAMA5	c.950C>T	p.Pro317Leu	Missense	6/80	-
9-77684860-C-T	NMRK1	c.268G>A	p.Glu90Lys	Missense	5/9	-
1-11106630-G-A	MASP2	c.395C>T	p.Ala132Val	Missense	3/11	-
4-157891963-C-G	PDGFC	c.93G>C	p.Gln31His	Missense	1/6	-
4-69978329-C-T	UGT2B7	c.1465C>T	p.His489Tyr	Missense	6/6	-
7-100004394-C-T	ZCWPW1	c.1093G>A	p.Glu365Lys	Missense	12/18	-
1-196295914-C-G	KCNT2	c.2209G>C	p.Val737Leu	Missense	19/28	-
20-60885127-C-T	LAMA5	c.10745G>A	p.Arg3582Gln	Missense	78/80	-
15-42731805-T-C	ZNF106	c.3901A>G	p.Asn1301Asp	Missense	8/19	-
16-56977087-G-C	HERPUD1	c.1058G>C	p.Arg353Thr	Missense	8/8	-
1-176760568-C-G	PAPPA2	c.4970C>G	p.Pro1657Arg	Missense	19/23	-
1-176760568-C-A	PAPPA2	c.4970C>A	p.Pro1657His	Missense	19/23	-
1-176760568-C-T	PAPPA2	c.4970C>T	p.Pro1657Leu	Missense	19/23	-
9-133948184-G-A	LAMC3	c.3379G>A	p.Glu1127Lys	Missense	19/28	-
1-227068398-G-T	PSEN2	c.1-1211G>T	-	IntronicSNV	-	3/12
3-46306765-C-G	CCR3	c.170C>G	p.Pro57Arg	Missense	3/3	-
6-32097475-T-C	FKBPL	c.83A>G	p.Asn28Ser	Missense	2/2	-
3-46306765-C-T	CCR3	c.170C>T	p.Pro57Leu	Missense	3/3	-
4-57797510-A-G	REST	c.2486A>G	p.Glu829Gly	Missense	4/4	-
12-57577915-C-T	LRP1	c.5977C>T	p.Arg1993Trp	Missense	37/89	-
17-66902302-G-T	ABCA8	c.2161C>A	p.Leu721Ile	Missense	17/38	-
4-110682686-A-G	CFI	c.645T>C	p.Tyr215Tyr	Synonymous	4/13	-
6-30514577-G-A	GNL1	c.1478C>T	p.Ala493Val	Missense	11/12	-
4-110667485-T-C	CFI	c.1322A>G	p.Lys441Arg	Missense	11/13	-
1-22965687-C-T	C1QA	c.525C>T	p.Ile175Ile	Synonymous	3/3	-
3-52543906-C-A	STAB1	c.2368C>A	p.Leu790Ile	Missense	23/69	-
12-9004892-C-A	A2ML1	c.2550C>A	p.Asp850Glu	Missense	20/36	-
7-99818851-G-A	PVRIG	c.958G>A	p.Glu320Lys	Missense	6/6	-
6-32032628-C-A	TNXB	c.6811G>T	p.Val2271Leu	Missense	19/44	-
6-32032628-C-G	TNXB	c.6811G>C	p.Val2271Leu	Missense	19/44	-
1-120548095-C-A	NOTCH2	c.272G>T	p.Arg91Leu	Missense	3/34	-
7-150693897-G-A	NOS3	c.466G>A	p.Glu156Lys	Missense	5/27	-
7-150693897-G-C	NOS3	c.466G>C	p.Glu156Gln	Missense	5/27	-
7-80300449-T-G	CD36	c.975T>G	p.Tyr325*	Nonsense	10/14	-
11-36614521-C-G	RAG2	c.1198G>C	p.Asp400His	Missense	2/2	-
9-87338515-C-T	NTRK2	c.611C>T	p.Pro204Leu	Missense	9/15	-
12-9004892-C-T	A2ML1	c.2550C>T	p.Asp850Asp	Synonymous	20/36	-
7-99818851-G-T	PVRIG	c.958G>T	p.Glu320*	Nonsense	6/6	-
6-31930462-G-A	SKIV2L	c.1212-29G>A	-	IntronicSNV	-	11/27
3-100963593-T-C	IMPG2	c.1582A>G	p.Ile528Val	Missense	13/19	-
9-101830911-A-G	COL15A1	c.3912A>G	p.Ile1304Met	Missense	41/42	-
6-30860313-A-T	DDR1	c.1093A>T	p.Ile365Phe	Missense	7/17	-
16-57394393-T-C	CCL22	c.118T>C	p.Tyr40His	Missense	2/3	-
1-94543268-C-T	ABCA4	c.1532G>A	p.Arg511His	Missense	11/50	-
16-23080653-G-C	USP31	c.2773C>G	p.Pro925Ala	Missense	16/16	-
1-103488522-C-T	COL11A1	c.898-1197G>A	-	IntronicSNV	-	6/64
17-80280213-C-A	SECTM1	c.571G>T	p.Val191Phe	Missense	5/5	-
12-2224449-G-A	CACNA1C	c.109G>A	p.Gly37Arg	Missense	2/47	-
5-124080382-T-A	ZNF608	c.301A>T	p.Thr101Ser	Missense	1/9	-
4-110663722-C-A	CFI	c.1459G>T	p.Gly487Cys	Missense	12/13	-
19-10385540-A-T	ICAM1	c.167A>T	p.Lys56Met	Missense	2/7	-
6-36076169-A-G	MAPK14	c.1028A>G	p.Asp343Gly	Missense	12/12	-
6-32052255-T-C	TNXB	c.3380A>G	p.Lys1127Arg	Missense	8/44	-
19-54848722-C-T	LILRA4	c.901G>A	p.Val301Ile	Missense	5/8	-
19-54848722-C-G	LILRA4	c.901G>C	p.Val301Leu	Missense	5/8	-
16-55518043-G-A	MMP2	c.346G>A	p.Glu116Lys	Missense	3/13	-
8-19818551-G-A	LPL	c.1279G>A	p.Ala427Thr	Missense	8/10	-
1-176563779-G-A	PAPPA2	c.1039G>A	p.Val347Met	Missense	3/23	-
6-32150356-A-T	AGER	c.811T>A	p.Trp271Arg	Missense	7/11	-
9-101894904-G-A	TGFBR1	c.343+3522G>A	-	IntronicSNV	-	2/7
15-81592384-C-T	IL16	c.2717C>T	p.Ser906Leu	Missense	14/19	-
16-66426144-G-T	CDH5	c.1075G>T	p.Val359Phe	Missense	7/12	-
1-249211096-G-A	PGBD2	c.1-441G>A	-	IntronicSNV	-	2/2
1-173873176-C-G	SERPINC1	c.1246G>C	p.Ala416Pro	Missense	7/7	-
17-73728300-G-T	ITGB4	c.1434G>T	p.Gln478His	Missense	12/40	-
16-66426144-G-A	CDH5	c.1075G>A	p.Val359Ile	Missense	7/12	-
4-110681732-G-C	CFI	c.719C>G	p.Ala240Gly	Missense	5/13	-
19-7132173-G-C	INSR	c.2838C>G	p.Asp946Glu	Missense	14/22	-
1-31349983-C-G	SDC3	c.286G>C	p.Ala96Pro	Missense	3/5	-
11-6422240-C-T	APBB1	c.1651G>A	p.Val551Ile	Missense	12/15	-
6-161006105-C-T	LPA	c.4262G>A	p.Arg1421Gln	Missense	26/39	-
2-215813807-T-A	ABCA12	c.6919A>T	p.Ile2307Phe	Missense	46/53	-
4-110667612-A-G	CFI	c.1195T>C	p.Trp399Arg	Missense	11/13	-
1-196706677-G-T	CFH	c.2669G>T	p.Ser890Ile	Missense	17/22	-
13-111117923-C-T	COL4A2	c.1948C>T	p.Pro650Ser	Missense	25/48	-
7-100071904-C-G	TSC22D4	c.922G>C	p.Asp308His	Missense	3/5	-
21-46876226-C-A	COL18A1	c.646+136C>A	-	IntronicSNV	-	1/40
21-46876226-C-T	COL18A1	c.646+136C>T	-	IntronicSNV	-	1/40
6-70639408-G-A	COL19A1	c.482G>A	p.Arg161Gln	Missense	6/51	-
2-206588569-C-T	NRP2	c.725C>T	p.Thr242Met	Missense	5/17	-
8-23225708-C-A	LOXL2	c.157G>T	p.Val53Leu	Missense	2/14	-
12-9013783-C-T	A2ML1	c.3392C>T	p.Thr1131Met	Missense	28/36	-
15-42740560-T-C	ZNF106	c.2776A>G	p.Arg926Gly	Missense	3/19	-
11-6423873-T-C	APBB1	c.1187A>G	p.Asn396Ser	Missense	7/15	-
1-196918738-C-T	CFHR2	c.212C>T	p.Thr71Met	Missense	2/5	-
9-135786451-G-T	TSC1	c.1079C>A	p.Thr360Asn	Missense	11/23	-
9-139841132-G-T	C8G	c.586G>T	p.Val196Phe	Missense	6/7	-
2-215910574-G-A	ABCA12	c.859C>T	p.Arg287*	Nonsense	7/53	-
16-31341424-C-A	ITGAM	c.2999C>A	p.Thr1000Asn	Missense	26/30	-
5-41382364-C-G	PLCXD3	c.376G>C	p.Glu126Gln	Missense	2/3	-
8-135622851-G-C	ZFAT	c.460C>G	p.Arg154Gly	Missense	5/17	-
8-135622851-G-A	ZFAT	c.460C>T	p.Arg154Trp	Missense	5/17	-
7-99757982-T-C	GAL3ST4	c.1030A>G	p.Ser344Gly	Missense	4/4	-
2-215813807-T-C	ABCA12	c.6919A>G	p.Ile2307Val	Missense	46/53	-
5-76129303-A-T	F2RL1	c.871A>T	p.Thr291Ser	Missense	2/2	-
5-76129303-A-G	F2RL1	c.871A>G	p.Thr291Ala	Missense	2/2	-
2-215815807-C-A	ABCA12	c.6648G>T	p.Arg2216Ser	Missense	45/53	-
15-42734331-C-G	ZNF106	c.3634G>C	p.Val1212Leu	Missense	7/19	-
15-42734331-C-A	ZNF106	c.3634G>T	p.Val1212Leu	Missense	7/19	-
19-6734292-T-A	GPR108	c.401A>T	p.Gln134Leu	Missense	5/18	-
6-169064783-A-G	SMOC2	c.1315A>G	p.Asn439Asp	Missense	12/13	-
7-100071904-C-T	TSC22D4	c.922G>A	p.Asp308Asn	Missense	3/5	-
8-2088749-A-G	MYOM2	c.3904A>G	p.Thr1302Ala	Missense	33/37	-
8-2088749-A-T	MYOM2	c.3904A>T	p.Thr1302Ser	Missense	33/37	-
15-62214756-A-C	VPS13C	c.6686T>G	p.Ile2229Arg	Missense	52/83	-
10-75675086-T-A	PLAU	c.1048T>A	p.Tyr350Asn	Missense	10/11	-
12-120652725-C-T	PXN	c.1079G>A	p.Arg360Gln	Missense	8/11	-
16-81324160-G-A	BCO1	c.1622G>A	p.Cys541Tyr	Missense	11/11	-
8-139164185-T-G	FAM135B	c.2533A>C	p.Ile845Leu	Missense	13/20	-
16-57394360-G-T	CCL22	c.85G>T	p.Ala29Ser	Missense	2/3	-
20-60901785-G-A	LAMA5	c.5246C>T	p.Pro1749Leu	Missense	40/80	-
17-73738798-C-A	ITGB4	c.2918C>A	p.Thr973Asn	Missense	25/40	-
8-123965432-G-A	ZHX2	c.1682G>A	p.Arg561Gln	Missense	3/4	-
6-47563608-A-G	CD2AP	c.1120A>G	p.Thr374Ala	Missense	12/18	-
8-23225708-C-T	LOXL2	c.157G>A	p.Val53Met	Missense	2/14	-
1-110260040-A-G	GSTM5	c.649A>G	p.Ser217Gly	Missense	8/8	-
4-110687890-G-C	CFI	c.148C>G	p.Pro50Ala	Missense	2/13	-
9-115216344-G-A	HSDL2	c.917G>A	p.Arg306His	Missense	9/11	-
14-62204808-C-T	HIF1A	c.1253C>T	p.Thr418Ile	Missense	10/15	-
4-110685820-C-T	CFI	c.355G>A	p.Gly119Arg	Missense	3/13	-
1-186105949-G-A	HMCN1	c.13462G>A	p.Val4488Met	Missense	87/107	-
1-155030364-G-A	ADAM15	c.1454G>A	p.Gly485Glu	Missense	14/21	-
15-42734481-G-A	ZNF106	c.3484C>T	p.Pro1162Ser	Missense	7/19	-
11-10500134-G-A	AMPD3	c.310G>A	p.Asp104Asn	Missense	3/15	-
16-2103368-C-T	TSC2	c.251C>T	p.Ala84Val	Missense	4/42	-
2-189864023-G-A	COL3A1	c.2035G>A	p.Ala679Thr	Missense	30/51	-
21-47552089-A-C	COL6A2	c.2683A>C	p.Ser895Arg	Missense	28/28	-
16-24202451-C-A	PRKCB	c.1763C>A	p.Pro588His	Missense	16/17	-
15-89758328-A-G	RLBP1	c.488T>C	p.Ile163Thr	Missense	6/9	-
1-94476377-C-T	ABCA4	c.5693G>A	p.Arg1898His	Missense	40/50	-
15-62261612-T-C	VPS13C	c.2668A>G	p.Thr890Ala	Missense	26/83	-
11-10477939-G-T	AMPD3	c.23-5123G>T	-	IntronicSNV	-	1/14
11-10477939-G-A	AMPD3	c.23-5123G>A	-	IntronicSNV	-	1/14
2-227660781-T-C	IRS1	c.2674A>G	p.Ser892Gly	Missense	1/2	-
20-60899224-G-A	LAMA5	c.5680C>T	p.Arg1894Cys	Missense	43/80	-
1-171303836-G-A	FMO4	c.1114G>A	p.Gly372Ser	Missense	8/10	-
9-27168571-T-C	TEK	c.443T>C	p.Ile148Thr	Missense	3/23	-
6-70639408-G-T	COL19A1	c.482G>T	p.Arg161Leu	Missense	6/51	-
13-28897068-T-C	FLT1	c.2812A>G	p.Met938Val	Missense	21/30	-
16-55853498-G-A	CES1	c.852C>T	p.His284His	Synonymous	7/14	-
5-40959622-C-A	C7	c.1561C>A	p.Arg521Ser	Missense	12/18	-
2-69734636-G-A	AAK1	c.2081C>T	p.Thr694Met	Missense	15/22	-
19-1057343-G-A	ABCA7	c.4795G>A	p.Val1599Met	Missense	35/47	-
10-75671356-G-T	PLAU	c.43G>T	p.Val15Leu	Missense	2/11	-
10-75671356-G-A	PLAU	c.43G>A	p.Val15Met	Missense	2/11	-
10-75671356-G-C	PLAU	c.43G>C	p.Val15Leu	Missense	2/11	-
4-110682723-G-A	CFI	c.608C>T	p.Thr203Ile	Missense	4/13	-
3-52546872-G-T	STAB1	c.3056G>T	p.Arg1019Leu	Missense	29/69	-
11-112085537-G-A	BCO2	c.1283G>A	p.Gly428Asp	Missense	10/12	-
3-52546872-G-C	STAB1	c.3056G>C	p.Arg1019Pro	Missense	29/69	-
3-52546872-G-A	STAB1	c.3056G>A	p.Arg1019His	Missense	29/69	-
10-26856265-G-T	APBB1IP	c.1849G>T	p.Ala617Ser	Missense	15/15	-
10-26856265-G-A	APBB1IP	c.1849G>A	p.Ala617Thr	Missense	15/15	-
1-100340787-G-A	AGL	c.1160G>A	p.Arg387Gln	Missense	9/34	-
13-95858806-C-T	ABCC4	c.1141G>A	p.Val381Ile	Missense	8/31	-
6-31779728-C-G	HSPA1L	c.22G>C	p.Ala8Pro	Missense	2/2	-
6-31779728-C-T	HSPA1L	c.22G>A	p.Ala8Thr	Missense	2/2	-
5-75914369-C-A	F2RL2	c.163G>T	p.Ala55Ser	Missense	2/2	-
5-75914369-C-T	F2RL2	c.163G>A	p.Ala55Thr	Missense	2/2	-
6-76657130-G-A	IMPG1	c.1945C>T	p.Leu649Phe	Missense	14/17	-
20-60895865-C-G	LAMA5	c.6578G>C	p.Arg2193Pro	Missense	49/80	-
20-60895865-C-T	LAMA5	c.6578G>A	p.Arg2193His	Missense	49/80	-
7-81392140-G-A	HGF	c.137C>T	p.Ala46Val	Missense	2/18	-
1-196964886-A-G	CFHR5	c.647A>G	p.Asn216Ser	Missense	5/10	-
16-31373457-C-T	ITGAX	c.1148C>T	p.Pro383Leu	Missense	11/30	-
20-23030015-C-T	THBD	c.127G>A	p.Ala43Thr	Missense	1/1	-
19-54848178-C-T	LILRA4	c.1189G>A	p.Gly397Ser	Missense	6/8	-
4-110682781-C-T	CFI	c.550G>A	p.Val184Met	Missense	4/13	-
19-10395796-C-T	ICAM1	c.1432C>T	p.Arg478Trp	Missense	7/7	-
19-10395796-C-G	ICAM1	c.1432C>G	p.Arg478Gly	Missense	7/7	-
10-50740611-G-A	ERCC6	c.400C>T	p.Arg134Trp	Missense	2/21	-
10-50740611-G-T	ERCC6	c.400C>A	p.Arg134Arg	Synonymous	2/21	-
10-75672059-G-A	PLAU	c.172G>A	p.Gly58Arg	Missense	4/11	-
3-93619677-C-T	PROS1	c.698G>A	p.Arg233Lys	Missense	7/15	-
17-80207454-C-T	CSNK1D	c.910G>A	p.Ala304Thr	Missense	7/10	-
6-32178570-C-A	NOTCH4	c.2824G>T	p.Gly942Trp	Missense	18/30	-
20-60907761-G-A	LAMA5	c.3295C>T	p.Leu1099Phe	Missense	27/80	-
22-42523613-C-T	CYP2D6	c.1009G>A	p.Asp337Asn	Missense	7/9	-
22-31532702-A-G	PLA2G3	c.1283T>C	p.Leu428Pro	Missense	6/7	-
1-103345315-C-T	COL11A1	c.4850G>A	p.Arg1617His	Missense	64/65	-
17-6913336-C-A	ALOX12	c.1703C>A	p.Thr568Asn	Missense	13/14	-
15-62226423-T-G	VPS13C	c.5734A>C	p.Asn1912His	Missense	47/83	-
8-38869207-G-A	ADAM9	c.226G>A	p.Glu76Lys	Missense	3/22	-
11-112072789-A-G	BCO2	c.968A>G	p.His323Arg	Missense	8/12	-
4-69962882-T-A	UGT2B7	c.644T>A	p.Ile215Asn	Missense	1/6	-
9-120476694-G-A	TLR4	c.2288G>A	p.Arg763His	Missense	3/3	-
4-110673634-G-T	CFI	c.930C>A	p.Asp310Glu	Missense	8/13	-
2-21228339-A-T	APOB	c.11401T>A	p.Ser3801Thr	Missense	26/29	-
8-6599270-G-A	AGPAT5	c.584G>A	p.Arg195His	Missense	5/8	-
19-10394455-G-T	ICAM1	c.630G>T	p.Gln210His	Missense	3/7	-
7-99764196-G-A	GAL3ST4	c.358C>T	p.Arg120Cys	Missense	3/4	-
7-99764196-G-C	GAL3ST4	c.358C>G	p.Arg120Gly	Missense	3/4	-
11-65636053-T-C	EFEMP2	c.775A>G	p.Ile259Val	Missense	8/11	-
6-43746949-T-C	VEGFA	c.962+294T>C	-	IntronicSNV	-	5/7
4-55955969-C-T	KDR	c.3193G>A	p.Ala1065Thr	Missense	24/30	-
16-53860253-G-A	FTO	c.601G>A	p.Val201Ile	Missense	3/9	-
4-120419806-G-A	PDE5A	c.2578C>T	p.Gln860*	Nonsense	21/21	-
21-47412687-G-A	COL6A1	c.1298G>A	p.Arg433Gln	Missense	19/35	-
5-139930696-C-T	SRA1	c.449G>A	p.Gly150Glu	Missense	4/5	-
12-57585281-A-G	LRP1	c.7415A>G	p.Asn2472Ser	Missense	44/89	-
4-57830655-G-A	NOA1	c.1802C>T	p.Pro601Leu	Missense	6/7	-
6-30633261-C-T	DHX16	c.916G>A	p.Gly306Arg	Missense	5/20	-
4-57829669-G-T	NOA1	c.2044C>A	p.Pro682Thr	Missense	7/7	-
1-20302201-C-T	PLA2G2A	c.428G>A	p.Arg143His	Missense	6/6	-
20-23028640-G-A	THBD	c.1502C>T	p.Pro501Leu	Missense	1/1	-
20-50048830-C-T	NFATC2	c.2496G>A	p.Met832Ile	Missense	9/11	-
14-102551163-T-A	HSP90AA1	c.836A>T	p.Lys279Met	Missense	5/11	-
10-105797396-C-T	COL17A1	c.3206G>A	p.Arg1069Gln	Missense	46/56	-
10-105797396-C-A	COL17A1	c.3206G>T	p.Arg1069Leu	Missense	46/56	-
10-105797396-C-G	COL17A1	c.3206G>C	p.Arg1069Pro	Missense	46/56	-
7-95024007-G-C	PON3	c.94C>G	p.Arg32Gly	Missense	2/9	-
12-123806084-T-C	SBNO1	c.2318A>G	p.Asn773Ser	Missense	17/32	-
1-40773150-G-T	COL9A2	c.976C>A	p.Gln326Lys	Missense	19/32	-
1-40773150-G-A	COL9A2	c.976C>T	p.Gln326*	Nonsense	19/32	-
22-33059665-G-C	SYN3	c.709-66943C>G	-	IntronicSNV	-	6/13
12-57597253-G-T	LRP1	c.10900G>T	p.Ala3634Ser	Missense	70/89	-
12-57597253-G-A	LRP1	c.10900G>A	p.Ala3634Thr	Missense	70/89	-
17-66933175-G-A	ABCA8	c.383C>T	p.Thr128Ile	Missense	4/38	-
5-123982685-C-G	ZNF608	c.3392G>C	p.Ser1131Thr	Missense	4/9	-
15-38228620-G-T	TMCO5A	c.96G>T	p.Gln32His	Missense	3/12	-
1-186121996-C-T	HMCN1	c.15011C>T	p.Thr5004Ile	Missense	96/107	-
15-89453043-G-A	MFGE8	c.185C>T	p.Ala62Val	Missense	2/8	-
12-57598512-G-A	LRP1	c.11174G>A	p.Gly3725Glu	Missense	72/89	-
6-31747216-C-T	VARS	c.3386G>A	p.Arg1129Gln	Missense	28/30	-
17-21216820-G-A	MAP2K3	c.931G>A	p.Ala311Thr	Missense	11/12	-
1-171605387-T-C	MYOC	c.1193A>G	p.Lys398Arg	Missense	3/3	-
17-21216820-G-T	MAP2K3	c.931G>T	p.Ala311Ser	Missense	11/12	-
12-52585677-G-A	KRT80	c.10C>T	p.Arg4Cys	Missense	1/9	-
20-44530943-G-A	PLTP	c.1138C>T	p.Arg380Trp	Missense	12/16	-
19-10385540-A-G	ICAM1	c.167A>G	p.Lys56Arg	Missense	2/7	-
11-46897434-T-C	LRP4	c.3620A>G	p.Asn1207Ser	Missense	26/38	-
1-94496039-C-T	ABCA4	c.4297G>A	p.Val1433Ile	Missense	29/50	-
4-110662178-C-T	CFI	c.1623G>A	p.Trp541*	Nonsense	13/13	-
16-56995935-C-A	CETP	c.44C>A	p.Ala15Asp	Missense	1/16	-
16-53878082-G-A	FTO	c.767G>A	p.Ser256Asn	Missense	4/9	-
3-39307962-C-A	CX3CR1	c.39G>T	p.Glu13Asp	Missense	2/2	-
1-186092103-C-T	HMCN1	c.12250C>T	p.His4084Tyr	Missense	81/107	-
19-54848826-C-T	LILRA4	c.797G>A	p.Arg266His	Missense	5/8	-
6-32180684-A-C	NOTCH4	c.2443T>G	p.Cys815Gly	Missense	16/30	-
19-6707888-T-C	C3	c.1898A>G	p.Lys633Arg	Missense	15/41	-
15-62160901-C-T	VPS13C	c.10691G>A	p.Arg3564His	Missense	79/83	-
20-60893635-C-A	LAMA5	c.7114G>T	p.Asp2372Tyr	Missense	53/80	-
12-72666650-A-T	TRHDE	c.92A>T	p.Glu31Val	Missense	1/19	-
15-75012979-G-A	CYP1A1	c.1390C>T	p.Arg464Cys	Missense	7/7	-
7-99461219-G-A	CYP3A43	c.983G>A	p.Gly328Glu	Missense	9/10	-
5-37815941-C-T	GDNF	c.448G>A	p.Asp150Asn	Missense	3/3	-
9-139841132-G-A	C8G	c.586G>A	p.Val196Ile	Missense	6/7	-
7-99817878-C-T	PVRIG	c.260C>T	p.Thr87Met	Missense	3/6	-
6-30593528-C-T	MRPS18B	c.731C>T	p.Ala244Val	Missense	7/7	-
3-93598150-A-C	PROS1	c.1501T>G	p.Ser501Ala	Missense	13/15	-
9-133942515-C-G	LAMC3	c.2516C>G	p.Thr839Arg	Missense	14/28	-
1-218607532-G-C	TGFB2	c.619G>C	p.Val207Leu	Missense	3/7	-
11-85779721-G-C	PICALM	c.102C>G	p.Ile34Met	Missense	1/20	-
10-81372166-C-A	SFTPA1	c.271C>A	p.Pro91Thr	Missense	4/6	-
7-99627504-C-G	ZKSCAN1	c.601C>G	p.Pro201Ala	Missense	4/6	-
4-110662140-T-A	CFI	c.1661A>T	p.Glu554Val	Missense	13/13	-
4-110670400-C-A	CFI	c.1122G>T	p.Trp374Cys	Missense	10/13	-
8-141744806-G-A	PTK2	c.2096+544C>T	-	IntronicSNV	-	22/31
17-76399916-A-G	PGS1	c.1148A>G	p.Tyr383Cys	Missense	7/10	-
1-196964886-A-T	CFHR5	c.647A>T	p.Asn216Ile	Missense	5/10	-
21-47402620-C-A	COL6A1	c.170C>A	p.Ala57Asp	Missense	2/35	-
18-47113165-C-G	LIPG	c.1426C>G	p.Arg476Gly	Missense	9/10	-
7-94937419-G-A	PON1	c.602C>T	p.Ala201Val	Missense	6/9	-
9-133952618-T-C	LAMC3	c.3674T>C	p.Val1225Ala	Missense	22/28	-
4-120427058-C-T	PDE5A	c.2219G>A	p.Arg740Lys	Missense	17/21	-
4-110687908-C-T	CFI	c.130G>A	p.Asp44Asn	Missense	2/13	-
13-111082772-G-T	COL4A2	c.574G>T	p.Val192Phe	Missense	9/48	-
1-207850900-G-C	CR1L	c.264G>C	p.Lys88Asn	Missense	2/12	-
11-36615697-C-T	RAG2	c.22G>A	p.Val8Ile	Missense	2/2	-
4-110605744-A-T	MCUB	c.758A>T	p.Tyr253Phe	Missense	6/8	-
1-151491836-C-A	CGN	c.841C>A	p.Arg281Arg	Synonymous	2/21	-
17-48267454-G-A	COL1A1	c.2467C>T	p.Pro823Ser	Missense	36/51	-
6-30653141-C-G	PPP1R18	c.655G>C	p.Val219Leu	Missense	1/3	-
15-37184546-T-C	MEIS2	c.*152A>G	-	3_prime_UTR_variant	13/13	-
2-21225912-C-A	APOB	c.12382G>T	p.Val4128Leu	Missense	29/29	-
1-151502589-G-A	CGN	c.2311G>A	p.Glu771Lys	Missense	12/21	-
15-58957371-C-G	ADAM10	c.510G>C	p.Gln170His	Missense	5/16	-
7-100064620-G-A	TSC22D4	c.1150C>T	p.Arg384Trp	Missense	5/5	-
7-100064620-G-T	TSC22D4	c.1150C>A	p.Arg384Arg	Synonymous	5/5	-
10-75675086-T-C	PLAU	c.1048T>C	p.Tyr350His	Missense	10/11	-
4-110662173-A-G	CFI	c.1628T>C	p.Val543Ala	Missense	13/13	-
7-99473801-A-G	OR2AE1	c.856T>C	p.Ser286Pro	Missense	1/1	-
4-1806131-T-A	FGFR3	c.1150T>A	p.Phe384Ile	Missense	9/18	-
16-31286886-G-A	ITGAM	c.875G>A	p.Arg292His	Missense	9/30	-
1-100476986-G-A	SLC35A3	c.531G>A	p.Met177Ile	Missense	5/8	-
1-100476986-G-C	SLC35A3	c.531G>C	p.Met177Ile	Missense	5/8	-
6-31686943-C-T	LY6G6C	c.308G>A	p.Arg103Gln	Missense	3/3	-
3-48624040-C-T	COL7A1	c.3359G>A	p.Arg1120Lys	Missense	25/118	-
16-55857559-C-A	CES1	c.439G>T	p.Gly147Cys	Missense	4/14	-
16-53288510-T-G	CHD9	c.4022T>G	p.Val1341Gly	Missense	18/39	-
17-61562322-T-C	ACE	c.1922-275T>C	-	IntronicSNV	-	12/24
5-156918638-G-A	ADAM19	c.2080C>T	p.Pro694Ser	Missense	18/23	-
19-54844989-C-T	LILRA4	c.1354G>A	p.Val452Met	Missense	8/8	-
6-116443023-C-T	COL10A1	c.256G>A	p.Gly86Arg	Missense	3/3	-
15-62238002-G-A	VPS13C	c.4931C>T	p.Ala1644Val	Missense	43/83	-
4-110681527-C-T	CFI	c.782G>A	p.Gly261Asp	Missense	6/13	-
1-11106642-G-A	MASP2	c.383C>T	p.Thr128Met	Missense	3/11	-
20-44757524-C-G	CD40	c.679C>G	p.Pro227Ala	Missense	9/9	-
20-44757524-C-T	CD40	c.679C>T	p.Pro227Ser	Missense	9/9	-
16-53288510-T-C	CHD9	c.4022T>C	p.Val1341Ala	Missense	18/39	-
11-27680107-G-T	BDNF	c.5C>A	p.Thr2Asn	Missense	1/1	-
11-27680107-G-A	BDNF	c.5C>T	p.Thr2Ile	Missense	1/1	-
7-2752065-G-C	AMZ1	c.1050G>C	p.Ser350Ser	Synonymous	7/7	-
1-120478125-A-C	NOTCH2	c.3625T>G	p.Phe1209Val	Missense	22/34	-
15-75013051-C-T	CYP1A1	c.1318G>A	p.Asp440Asn	Missense	7/7	-
10-55582088-C-T	PCDH15	c.5398G>A	p.Val1800Ile	Missense	33/33	-
7-99720002-G-T	CNPY4	c.239G>T	p.Ser80Ile	Missense	2/6	-
1-232564288-T-G	SIPA1L2	c.4279A>C	p.Met1427Leu	Missense	15/21	-
2-215815751-T-G	ABCA12	c.6704A>C	p.Glu2235Ala	Missense	45/53	-
4-110678925-T-A	CFI	c.898A>T	p.Thr300Ser	Missense	7/13	-
4-110678925-T-C	CFI	c.898A>G	p.Thr300Ala	Missense	7/13	-
7-2752196-C-G	AMZ1	c.1181C>G	p.Pro394Arg	Missense	7/7	-
22-32914209-C-A	SYN3	c.1428G>T	p.Gln476His	Missense	13/14	-
7-2752196-C-T	AMZ1	c.1181C>T	p.Pro394Leu	Missense	7/7	-
3-9974919-C-T	IL17RC	c.1760C>T	p.Ala587Val	Missense	18/18	-
17-48275339-G-A	COL1A1	c.613C>T	p.Pro205Ser	Missense	8/51	-
1-186136015-G-A	HMCN1	c.15515G>A	p.Arg5172His	Missense	100/107	-
1-151491836-C-T	CGN	c.841C>T	p.Arg281Trp	Missense	2/21	-
5-41195939-G-T	C6	c.542C>A	p.Thr181Lys	Missense	5/18	-
5-41195939-G-A	C6	c.542C>T	p.Thr181Ile	Missense	5/18	-
12-123805261-G-A	SBNO1	c.2473C>T	p.Pro825Ser	Missense	18/32	-
15-42644231-G-A	GANC	c.2639G>A	p.Gly880Asp	Missense	24/24	-
15-42644231-G-C	GANC	c.2639G>C	p.Gly880Ala	Missense	24/24	-
9-107554263-C-T	ABCA1	c.5774G>A	p.Arg1925Gln	Missense	43/50	-
2-56145071-T-C	EFEMP1	c.246A>G	p.Glu82Glu	Synonymous	5/12	-
1-183206566-G-A	LAMC2	c.2681G>A	p.Arg894His	Missense	18/23	-
22-39631786-C-T	PDGFB	c.157G>A	p.Gly53Arg	Missense	2/7	-
22-31534280-G-A	PLA2G3	c.764C>T	p.Ala255Val	Missense	3/7	-
3-118621387-G-A	IGSF11	c.1276C>T	p.Arg426Trp	Missense	7/7	-
17-61560846-C-G	ACE	c.1513C>G	p.Pro505Ala	Missense	10/25	-
7-99697373-G-A	MCM7	c.-489C>T	-	5_prime_UTR_variant	3/14	-
1-233394248-T-C	PCNX2	c.1360A>G	p.Thr454Ala	Missense	5/34	-
6-32135005-C-T	EGFL8	c.572C>T	p.Pro191Leu	Missense	6/9	-
7-17379157-G-A	AHR	c.1708G>A	p.Val570Ile	Missense	10/11	-
9-77752523-C-G	OSTF1	c.478C>G	p.Leu160Val	Missense	8/10	-
19-13051130-G-A	CALR	c.566G>A	p.Ser189Asn	Missense	5/9	-
1-77987594-G-A	AK5	c.1394G>A	p.Arg465Gln	Missense	12/14	-
4-1809191-G-A	FGFR3	c.*202G>A	-	3-UTRSNV	18/18	-
6-30514529-G-A	GNL1	c.1526C>T	p.Ala509Val	Missense	11/12	-
4-57797230-C-G	REST	c.2206C>G	p.Pro736Ala	Missense	4/4	-
15-75043539-C-T	CYP1A2	c.841C>T	p.Arg281Trp	Missense	3/7	-
7-100420010-G-C	EPHB4	c.691C>G	p.Pro231Ala	Missense	4/17	-
21-46929372-G-A	COL18A1	c.3883G>A	-	missense_variant	38/41	-
10-124175436-G-A	PLEKHA1	c.530G>A	p.Ser177Asn	Missense	7/12	-
12-12332842-C-A	LRP6	c.1447G>T	p.Val483Leu	Missense	7/23	-
12-12332842-C-T	LRP6	c.1447G>A	p.Val483Ile	Missense	7/23	-
1-183209311-C-A	LAMC2	c.3206C>A	p.Thr1069Lys	Missense	21/23	-
1-94528774-C-T	ABCA4	c.1654G>A	p.Val552Ile	Missense	12/50	-
1-151491026-C-T	CGN	c.31C>T	p.Arg11Trp	Missense	2/21	-
1-207760852-G-A	CR1	c.4302G>A	p.Met1434Ile	Missense	26/39	-
1-151503071-G-A	CGN	c.2420G>A	p.Arg807Gln	Missense	13/21	-
5-35646784-A-G	SPEF2	c.601A>G	p.Arg201Gly	Missense	5/10	-
20-60893611-C-G	LAMA5	c.7138G>C	p.Gly2380Arg	Missense	53/80	-
7-99706126-G-A	AP4M1	c.*1621G>A	-	IntergenicSNV	15/15	-
8-139164185-T-C	FAM135B	c.2533A>G	p.Ile845Val	Missense	13/20	-
1-182026013-G-T	ZNF648	c.1133C>A	p.Ser378*	Nonsense	2/2	-
6-161127501-A-G	PLG	c.112A>G	p.Lys38Glu	Missense	2/19	-
4-103225569-G-C	SLC39A8	c.745C>G	p.Pro249Ala	Missense	5/8	-
9-101767245-G-A	COL15A1	c.1266G>A	p.Met422Ile	Missense	9/42	-
6-32151458-G-A	AGER	c.229C>T	p.Arg77Cys	Missense	3/11	-
4-110682715-A-T	CFI	c.616T>A	p.Tyr206Asn	Missense	4/13	-
7-99971849-A-G	PILRA	c.247A>G	p.Ser83Gly	Missense	2/7	-
1-31347320-G-A	SDC3	c.986C>T	p.Thr329Ile	Missense	4/5	-
3-100016789-G-C	TBC1D23	c.899G>C	p.Ser300Thr	Missense	9/18	-
15-66813446-C-T	ZWILCH	c.650C>T	p.Thr217Ile	Missense	7/19	-
20-56728632-G-T	C20orf85	c.101G>T	p.Arg34Leu	Missense	2/4	-
15-66813446-C-G	ZWILCH	c.650C>G	p.Thr217Arg	Missense	7/19	-
22-38478804-A-G	SLC16A8	c.77T>C	p.Phe26Ser	Missense	2/5	-
10-105836074-G-A	COL17A1	c.316C>T	p.Arg106Cys	Missense	5/56	-
17-74383509-G-A	SPHK1	c.1039G>A	p.Asp347Asn	Missense	6/6	-
3-133473346-G-A	TF	c.333G>A	p.Gln111Gln	Synonymous	4/17	-
20-52788189-C-G	CYP24A1	c.470G>C	p.Arg157Pro	Missense	3/12	-
7-81334825-C-T	HGF	c.1891G>A	p.Val631Met	Missense	17/18	-
7-81334825-C-G	HGF	c.1891G>C	p.Val631Leu	Missense	17/18	-
20-52788189-C-T	CYP24A1	c.470G>A	p.Arg157Gln	Missense	3/12	-
19-6734292-T-C	GPR108	c.401A>G	p.Gln134Arg	Missense	5/18	-
4-178257364-G-C	NEIL3	c.516G>C	p.Gln172His	Missense	4/10	-
9-133932415-C-T	LAMC3	c.2039C>T	p.Thr680Met	Missense	12/28	-
19-54848144-T-A	LILRA4	c.1223A>T	p.His408Leu	Missense	6/8	-
6-116599896-G-T	TSPYL1	c.1098C>A	p.Phe366Leu	Missense	1/1	-
1-100459132-G-A	SLC35A3	c.22G>A	p.Val8Ile	Missense	2/8	-
21-47532093-G-A	COL6A2	c.316G>A	p.Glu106Lys	Missense	3/28	-
4-178262648-G-T	NEIL3	c.721G>T	p.Ala241Ser	Missense	6/10	-
4-84227453-C-T	HPSE	c.1109G>A	p.Gly370Asp	Missense	10/13	-
15-66857141-G-A	LCTL	c.155C>T	p.Thr52Met	Missense	3/14	-
4-57829669-G-A	NOA1	c.2044C>T	p.Pro682Ser	Missense	7/7	-
1-94544977-A-T	ABCA4	c.1140T>A	p.Asn380Lys	Missense	9/50	-
4-178272608-G-A	NEIL3	c.944G>A	p.Arg315Gln	Missense	7/10	-
20-60893638-G-C	LAMA5	c.7111C>G	p.Arg2371Gly	Missense	53/80	-
20-60893638-G-A	LAMA5	c.7111C>T	p.Arg2371Cys	Missense	53/80	-
17-61566095-A-G	ACE	c.2392A>G	p.Ile798Val	Missense	16/25	-
17-66871468-G-C	ABCA8	c.4444C>G	p.Leu1482Val	Missense	35/38	-
6-32188010-T-A	NOTCH4	c.1211A>T	p.Asp404Val	Missense	7/30	-
8-23082369-C-G	TNFRSF10A	c.206G>C	p.Arg69Pro	Missense	1/10	-
5-41186248-A-G	C6	c.650T>C	p.Ile217Thr	Missense	6/18	-
2-21231278-G-A	APOB	c.8462C>T	p.Pro2821Leu	Missense	26/29	-
9-21077313-G-A	IFNB1	c.556C>T	p.Arg186*	Nonsense	1/1	-
6-116443735-T-A	COL10A1	c.155-611A>T	-	IntronicSNV	-	2/2
13-113803236-G-A	F10	c.872G>A	p.Arg291Gln	Missense	8/8	-
4-110667554-T-A	CFI	c.1253A>T	p.His418Leu	Missense	11/13	-
22-32914312-C-T	SYN3	c.1325G>A	p.Arg442His	Missense	13/14	-
6-161152807-G-A	PLG	c.1469G>A	p.Arg490Gln	Missense	12/19	-
7-99654642-G-A	ZSCAN21	c.13G>A	p.Val5Ile	Missense	2/4	-
15-62214756-A-G	VPS13C	c.6686T>C	p.Ile2229Thr	Missense	52/83	-
3-133496032-G-T	TF	c.2012G>T	p.Gly671Val	Missense	16/17	-
6-116720466-G-A	DSE	c.53G>A	p.Cys18Tyr	Missense	2/6	-
6-116720466-G-T	DSE	c.53G>T	p.Cys18Phe	Missense	2/6	-
8-23082477-G-A	TNFRSF10A	c.98C>T	p.Thr33Ile	Missense	1/10	-
19-10398465-C-T	ICAM4	c.648C>T	p.Leu216Leu	Synonymous	2/3	-
1-20305003-G-A	PLA2G2A	c.55C>T	p.His19Tyr	Missense	4/6	-
4-110670459-C-T	CFI	c.1063G>A	p.Val355Met	Missense	10/13	-
6-31726056-C-T	MSH5	c.1129C>T	p.Leu377Phe	Missense	13/25	-
4-157891943-T-C	PDGFC	c.113A>G	p.Gln38Arg	Missense	1/6	-
1-11090885-G-A	MASP2	c.1142C>T	p.Thr381Ile	Missense	9/11	-
18-580412-G-A	CETN1	c.4G>A	p.Ala2Thr	Missense	1/1	-
1-196709833-C-T	CFH	c.2867C>T	p.Thr956Met	Missense	18/22	-
3-99885200-A-T	CMSS1	c.377A>T	p.Asn126Ile	Missense	5/10	-
9-6255967-G-C	IL33	c.613-1G>C	-	IntronicSNV	-	7/7
17-73733421-G-A	ITGB4	c.2009G>A	p.Arg670His	Missense	17/40	-
3-99885200-A-G	CMSS1	c.377A>G	p.Asn126Ser	Missense	5/10	-
1-103488522-C-G	COL11A1	c.898-1197G>C	-	IntronicSNV	-	6/64
11-112070431-A-C	BCO2	c.644A>C	p.Tyr215Ser	Missense	6/12	-
11-112070431-A-G	BCO2	c.644A>G	p.Tyr215Cys	Missense	6/12	-
15-66839296-G-C	ZWILCH	c.*279G>C	-	IntronicSNV	19/19	-
15-66839296-G-T	ZWILCH	c.*279G>T	-	IntronicSNV	19/19	-
3-52535766-C-T	STAB1	c.328C>T	p.His110Tyr	Missense	3/69	-
19-54848722-C-A	LILRA4	c.901G>T	p.Val301Phe	Missense	5/8	-
21-47544833-C-A	COL6A2	c.1769C>A	p.Thr590Lys	Missense	23/28	-
9-120470884-A-G	TLR4	c.137A>G	p.Tyr46Cys	Missense	2/3	-
1-150789884-C-T	ARNT	c.1486G>A	p.Asp496Asn	Missense	15/21	-
21-46875961-G-A	COL18A1	c.517G>A	p.Gly173Ser	Missense	1/41	-
21-46875961-G-T	COL18A1	c.517G>T	p.Gly173Cys	Missense	1/41	-
13-28971113-T-C	FLT1	c.1644A>G	p.Ile548Met	Missense	12/30	-
3-107491892-G-A	BBX	c.1324G>A	p.Ala442Thr	Missense	11/17	-
15-42457972-C-A	VPS39	c.1723G>T	p.Asp575Tyr	Missense	17/25	-
6-31734385-C-A	VWA7	c.2039G>T	p.Arg680Leu	Missense	14/17	-
9-87338511-G-T	NTRK2	c.607G>T	p.Ala203Ser	Missense	9/15	-
9-87338511-G-A	NTRK2	c.607G>A	p.Ala203Thr	Missense	9/15	-
1-100343254-G-A	AGL	c.1481G>A	p.Arg494His	Missense	12/34	-
6-33156845-C-G	COL11A2	c.353G>C	p.Arg118Pro	Missense	3/5	-
7-94953733-T-C	PON1	c.55A>G	p.Asn19Asp	Missense	1/9	-
1-94487490-A-G	ABCA4	c.4685T>C	p.Ile1562Thr	Missense	33/50	-
18-50683873-G-T	DCC	c.1409G>T	p.Gly470Val	Missense	8/29	-
19-10395141-G-A	ICAM1	c.988G>A	p.Val330Met	Missense	5/7	-
2-215910574-G-C	ABCA12	c.859C>G	p.Arg287Gly	Missense	7/53	-
13-53298212-T-G	CNMD	c.388A>C	p.Lys130Gln	Missense	4/7	-
18-63525114-T-A	CDH7	c.1298T>A	p.Val433Asp	Missense	8/12	-
20-60884880-C-T	LAMA5	c.10840G>A	p.Gly3614Arg	Missense	79/80	-
20-60884880-C-G	LAMA5	c.10840G>C	p.Gly3614Arg	Missense	79/80	-
17-80320303-G-T	TEX19	c.277G>T	p.Gly93Trp	Missense	2/2	-
1-186024643-G-A	HMCN1	c.6981G>A	p.Met2327Ile	Missense	45/107	-
4-110662253-A-G	CFI	c.1548T>C	p.Gly516Gly	Synonymous	13/13	-
21-47404305-T-C	COL6A1	c.350T>C	p.Val117Ala	Missense	3/35	-
10-55973755-G-A	PCDH15	c.1039C>T	p.Leu347Phe	Missense	10/33	-
6-33156845-C-T	COL11A2	c.353G>A	p.Arg118Gln	Missense	3/5	-
17-1673303-C-T	SERPINF1	c.242C>T	p.Ser81Phe	Missense	3/8	-
22-37904616-G-A	CARD10	c.983C>T	p.Ala328Val	Missense	5/20	-
6-116442686-C-A	COL10A1	c.593G>T	p.Arg198Leu	Missense	3/3	-
6-116442686-C-T	COL10A1	c.593G>A	p.Arg198His	Missense	3/3	-
22-42525089-G-C	CYP2D6	c.451C>G	p.Gln151Glu	Missense	3/9	-
18-47113165-C-T	LIPG	c.1426C>T	p.Arg476Trp	Missense	9/10	-
7-2752456-C-A	AMZ1	c.1441C>A	p.Arg481Arg	Synonymous	7/7	-
17-4542349-T-C	ALOX15	c.416A>G	p.Tyr139Cys	Missense	3/14	-
1-94473287-G-A	ABCA4	c.5908C>T	p.Leu1970Phe	Missense	43/50	-
6-43571679-T-C	POLH	c.815T>C	p.Ile272Thr	Missense	7/11	-
17-21203961-G-A	MAP2K3	c.270G>A	p.Met90Ile	Missense	4/12	-
20-52781100-C-T	CYP24A1	c.735G>A	p.Met245Ile	Missense	6/12	-
1-227073271-C-T	PSEN2	c.389C>T	p.Ser130Leu	Missense	6/13	-
20-52781100-C-G	CYP24A1	c.735G>C	p.Met245Ile	Missense	6/12	-
6-139694603-T-A	CITED2	c.479A>T	p.His160Leu	Missense	2/2	-
1-186007990-C-T	HMCN1	c.5881C>T	p.Leu1961Phe	Missense	38/107	-
1-207647643-G-A	CR2	c.2121G>A	p.Trp707*	Nonsense	12/19	-
11-74168361-C-T	KCNE3	c.248G>A	p.Arg83His	Missense	3/3	-
2-69732797-G-C	AAK1	c.2173C>G	p.Pro725Ala	Missense	16/22	-
20-60893611-C-T	LAMA5	c.7138G>A	p.Gly2380Ser	Missense	53/80	-
7-100033038-C-T	PPP1R35	c.707G>A	p.Arg236His	Missense	4/4	-
2-228173636-A-G	COL4A3	c.4484A>G	p.Gln1495Arg	Missense	49/52	-
3-52551566-G-C	STAB1	c.4564G>C	p.Val1522Leu	Missense	44/69	-
4-110667641-C-T	CFI	c.1166G>A	p.Arg389His	Missense	11/13	-
1-207648456-G-T	CR2	c.2434G>T	p.Val812Leu	Missense	13/19	-
1-57333311-C-A	C8A	c.107C>A	p.Ala36Glu	Missense	2/11	-
15-90344348-C-A	ANPEP	c.1813G>T	p.Val605Leu	Missense	12/21	-
21-47422614-G-T	COL6A1	c.2424G>T	p.Gln808His	Missense	33/35	-
1-151502487-C-T	CGN	c.2209C>T	p.Arg737Trp	Missense	12/21	-
7-2752330-C-G	AMZ1	c.1315C>G	p.Arg439Gly	Missense	7/7	-
4-110662144-G-C	CFI	c.1657C>G	p.Pro553Ala	Missense	13/13	-
1-100349983-C-A	AGL	c.2522C>A	p.Ser841Tyr	Missense	19/34	-
17-80203891-C-T	CSNK1D	c.1222G>A	p.Gly408Ser	Missense	9/10	-
16-81303891-T-C	BCO1	c.971T>C	p.Ile324Thr	Missense	7/11	-
6-32159931-G-C	GPSM3	c.139C>G	p.His47Asp	Missense	6/8	-
10-50680959-G-A	ERCC6	c.2825C>T	p.Thr942Met	Missense	15/21	-
6-32159931-G-T	GPSM3	c.139C>A	p.His47Asn	Missense	6/8	-
18-64211445-T-G	CDH19	c.977A>C	p.His326Pro	Missense	7/12	-
1-183102632-G-A	LAMC1	c.3796G>A	p.Glu1266Lys	Missense	22/28	-
12-125263039-C-T	SCARB1	c.*94G>A	-	3_prime_UTR_variant	13/13	-
1-20442878-C-T	PLA2G2D	c.133G>A	p.Gly45Ser	Missense	2/3	-
1-233397909-T-C	PCNX2	c.362A>G	p.Asn121Ser	Missense	3/34	-
18-34850818-C-T	CELF4	c.1012G>A	p.Val338Met	Missense	8/13	-
19-6670070-C-A	TNFSF14	c.11G>T	p.Ser4Ile	Missense	2/5	-
6-32170264-G-T	NOTCH4	c.3344C>A	p.Ala1115Asp	Missense	21/30	-
17-1674431-C-A	SERPINF1	c.392C>A	p.Ala131Asp	Missense	4/8	-
19-10397987-A-G	ICAM4	c.299A>G	p.Gln100Arg	Missense	1/3	-
1-94502756-G-A	ABCA4	c.3758C>T	p.Thr1253Met	Missense	25/50	-
6-29911284-T-C	HLA-A	c.583T>C	p.Tyr195His	Missense	3/8	-
16-24202451-C-G	PRKCB	c.1763C>G	p.Pro588Arg	Missense	16/17	-
6-30520367-C-T	GNL1	c.976G>A	p.Glu326Lys	Missense	8/12	-
15-90344348-C-T	ANPEP	c.1813G>A	p.Val605Ile	Missense	12/21	-
4-110670416-T-G	CFI	c.1106A>C	p.Tyr369Ser	Missense	10/13	-
1-100327853-A-G	AGL	c.334A>G	p.Ile112Val	Missense	4/34	-
1-120458270-G-C	NOTCH2	c.7075C>G	p.Pro2359Ala	Missense	34/34	-
1-120458270-G-A	NOTCH2	c.7075C>T	p.Pro2359Ser	Missense	34/34	-
9-77683986-C-T	NMRK1	c.422G>A	p.Gly141Glu	Missense	7/9	-
15-75014727-G-A	CYP1A1	c.712C>T	p.Pro238Ser	Missense	2/7	-
1-183205708-G-C	LAMC2	c.2570G>C	p.Arg857Pro	Missense	17/23	-
1-183205708-G-A	LAMC2	c.2570G>A	p.Arg857Gln	Missense	17/23	-
11-114310345-C-T	REXO2	c.95C>T	p.Ala32Val	Missense	1/7	-
6-32133930-G-A	EGFL8	c.1-13G>A	-	5-UTRSNV	2/9	-
3-171431726-C-G	PLD1	c.868G>C	p.Glu290Gln	Missense	9/27	-
20-60911434-A-C	LAMA5	c.2285T>G	p.Phe762Cys	Missense	18/80	-
20-44533618-C-T	PLTP	c.845G>A	p.Arg282Gln	Missense	9/16	-
12-110034320-G-A	MVK	c.1129G>A	p.Val377Ile	Missense	11/11	-
1-171303690-T-C	FMO4	c.968T>C	p.Val323Ala	Missense	8/10	-
6-32134395-C-G	EGFL8	c.222C>G	p.Tyr74*	Nonsense	3/9	-
6-30680968-C-T	MDC1	c.751G>A	p.Glu251Lys	Missense	5/15	-
9-2643709-G-A	VLDLR	c.902G>A	p.Arg301Gln	Missense	6/19	-
4-110682726-C-A	CFI	c.605G>T	p.Arg202Ile	Missense	4/13	-
9-137777120-C-T	FCN2	c.337C>T	p.His113Tyr	Missense	5/8	-
1-94487404-C-T	ABCA4	c.4771G>A	p.Gly1591Arg	Missense	33/50	-
4-110685795-A-G	CFI	c.380T>C	p.Val127Ala	Missense	3/13	-
10-81697811-C-T	SFTPD	c.925G>A	p.Glu309Lys	Missense	8/8	-
10-81697811-C-G	SFTPD	c.925G>C	p.Glu309Gln	Missense	8/8	-
3-99397141-T-C	COL8A1	c.-129+2576T>C	-	intron_variant	-	2/4
6-32007840-C-T	CYP21A2	c.797C>T	p.Ala266Val	Missense	7/10	-
18-50592531-A-T	DCC	c.1256A>T	p.Lys419Met	Missense	7/29	-
18-50592531-A-G	DCC	c.1256A>G	p.Lys419Arg	Missense	7/29	-
10-105816892-C-T	COL17A1	c.1306G>A	p.Gly436Arg	Missense	17/56	-
6-30711759-G-A	IER3	c.425C>T	p.Ala142Val	Missense	2/2	-
2-20403998-G-A	SDC1	c.203C>T	p.Thr68Met	Missense	4/6	-
6-31864410-C-T	EHMT2	c.301G>A	p.Asp101Asn	Missense	3/28	-
6-30570135-C-T	PPP1R10	c.2291G>A	p.Ser764Asn	Missense	19/20	-
21-47423475-A-G	COL6A1	c.2635A>G	p.Ser879Gly	Missense	35/35	-
7-17378917-A-G	AHR	c.1468A>G	p.Met490Val	Missense	10/11	-
6-32063600-T-C	TNXB	c.2030A>G	p.Asp677Gly	Missense	3/44	-
10-50679030-T-C	ERCC6	c.3061A>G	p.Ile1021Val	Missense	17/21	-
20-60893637-C-A	LAMA5	c.7112G>T	p.Arg2371Leu	Missense	53/80	-
20-60893637-C-G	LAMA5	c.7112G>C	p.Arg2371Pro	Missense	53/80	-
20-60893637-C-T	LAMA5	c.7112G>A	p.Arg2371His	Missense	53/80	-
2-215914446-C-G	ABCA12	c.597G>C	p.Trp199Cys	Missense	6/53	-
3-48602866-C-A	COL7A1	c.8504G>T	p.Arg2835Leu	Missense	115/118	-
3-48602866-C-T	COL7A1	c.8504G>A	p.Arg2835His	Missense	115/118	-
1-203452409-G-A	PRELP	c.97G>A	p.Gly33Arg	Missense	2/3	-
16-2103389-C-T	TSC2	c.272C>T	p.Pro91Leu	Missense	4/42	-
11-117160380-T-G	BACE1	c.1108A>C	p.Met370Leu	Missense	8/8	-
19-50376237-C-G	AKT1S1	c.376G>C	p.Asp126His	Missense	2/5	-
19-50376237-C-A	AKT1S1	c.376G>T	p.Asp126Tyr	Missense	2/5	-
18-74728772-A-G	MBP	c.177+16T>C	-	IntronicSNV	-	1/6
1-57406638-G-C	C8B	c.1282C>G	p.Arg428Gly	Missense	9/12	-
21-47423649-A-G	COL6A1	c.2809A>G	p.Lys937Glu	Missense	35/35	-
17-37296025-C-T	PLXDC1	c.137G>A	p.Arg46Gln	Missense	2/14	-
5-37816112-G-A	GDNF	c.277C>T	p.Arg93Trp	Missense	3/3	-
10-105816916-C-G	COL17A1	c.1282G>C	p.Gly428Arg	Missense	17/56	-
16-56997233-G-A	CETP	c.233+197G>A	-	IntronicSNV	-	2/15
4-110667561-T-G	CFI	c.1246A>C	p.Ile416Leu	Missense	11/13	-
6-139694603-T-G	CITED2	c.479A>C	p.His160Pro	Missense	2/2	-
4-110687847-G-A	CFI	c.191C>T	p.Pro64Leu	Missense	2/13	-
8-2005572-G-A	MYOM2	c.370G>A	p.Asp124Asn	Missense	4/37	-
9-88574781-T-C	NAA35	c.347T>C	p.Leu116Ser	Missense	5/23	-
9-88574781-T-G	NAA35	c.347T>G	p.Leu116Trp	Missense	5/23	-
6-32065113-C-T	TNXB	c.517G>A	p.Ala173Thr	Missense	3/44	-
9-27197588-C-T	TEK	c.1900C>T	p.Leu634Phe	Missense	12/23	-
1-171605478-G-A	MYOC	c.1102C>T	p.Gln368*	Nonsense	3/3	-
16-2138546-G-A	TSC2	c.5359G>A	p.Gly1787Ser	Missense	42/42	-
1-57333304-C-T	C8A	c.100C>T	p.Pro34Ser	Missense	2/11	-
15-75042492-G-A	CYP1A2	c.413G>A	p.Arg138His	Missense	2/7	-
6-7229356-G-A	RREB1	c.1024G>A	p.Asp342Asn	Missense	10/12	-
17-66878774-G-A	ABCA8	c.3674C>T	p.Thr1225Ile	Missense	28/38	-
12-57587039-G-A	LRP1	c.7636G>A	p.Gly2546Ser	Missense	46/89	-
17-66878774-G-C	ABCA8	c.3674C>G	p.Thr1225Arg	Missense	28/38	-
5-35065328-C-G	PRLR	c.1732G>C	p.Glu578Gln	Missense	10/10	-
1-203452929-G-A	PRELP	c.617G>A	p.Arg206Lys	Missense	2/3	-
9-123782336-G-A	C5	c.1424C>T	p.Ala475Val	Missense	12/41	-
12-57590915-G-A	LRP1	c.9043G>A	p.Gly3015Ser	Missense	56/89	-
5-141980317-C-T	FGF1	c.223G>A	p.Glu75Lys	Missense	3/4	-
5-141980317-C-G	FGF1	c.223G>C	p.Glu75Gln	Missense	3/4	-
4-128694557-G-A	SLC25A31	c.776G>A	p.Arg259Gln	Missense	6/6	-
3-48623625-C-T	COL7A1	c.3605G>A	p.Arg1202His	Missense	27/118	-
1-110256120-T-G	GSTM5	c.192T>G	p.Ile64Met	Missense	4/8	-
12-9321534-G-A	PZP	c.2038C>T	p.Arg680*	Nonsense	17/36	-
6-161011993-G-A	LPA	c.3770C>T	p.Thr1257Met	Missense	23/39	-
7-73482987-G-A	ELN	c.2132G>A	p.Gly711Asp	Missense	33/33	-
6-32188815-C-G	NOTCH4	c.739G>C	p.Gly247Arg	Missense	4/30	-
15-89758328-A-T	RLBP1	c.488T>A	p.Ile163Asn	Missense	6/9	-
6-31734385-C-T	VWA7	c.2039G>A	p.Arg680Gln	Missense	14/17	-
19-7150532-G-A	INSR	c.2243C>T	p.Ser748Leu	Missense	11/22	-
8-20005574-A-G	SLC18A1	c.1154T>C	p.Leu385Pro	Missense	14/17	-
12-57589510-T-C	LRP1	c.8507T>C	p.Val2836Ala	Missense	53/89	-
6-30671969-G-C	MDC1	c.4991C>G	p.Thr1664Ser	Missense	10/15	-
6-30619226-C-G	C6orf136	c.345C>G	p.Asp115Glu	Missense	3/5	-
6-7240793-C-T	RREB1	c.3809-5864C>T	-	IntronicSNV	-	10/11
9-136314986-G-A	ADAMTS13	c.2944G>A	p.Gly982Arg	Missense	23/29	-
6-161011993-G-T	LPA	c.3770C>A	p.Thr1257Lys	Missense	23/39	-
4-110662063-G-A	CFI	c.1738C>T	p.Gln580*	Nonsense	13/13	-
22-39621819-G-A	PDGFB	c.635C>T	p.Thr212Met	Missense	6/7	-
1-230979207-C-A	C1orf198	c.820G>T	p.Ala274Ser	Missense	3/4	-
4-37445868-G-C	NWD2	c.2258G>C	p.Arg753Pro	Missense	7/7	-
4-37445868-G-A	NWD2	c.2258G>A	p.Arg753His	Missense	7/7	-
6-32150086-C-G	AGER	c.902G>C	p.Cys301Ser	Missense	8/11	-
1-230979207-C-T	C1orf198	c.820G>A	p.Ala274Thr	Missense	3/4	-
17-4535186-T-C	ALOX15	c.1807A>G	p.Met603Val	Missense	13/14	-
17-4535186-T-G	ALOX15	c.1807A>C	p.Met603Leu	Missense	13/14	-
13-31821256-C-G	B3GLCT	c.347+20C>G	-	IntronicSNV	-	5/14
13-31821256-C-A	B3GLCT	c.347+20C>A	-	IntronicSNV	-	5/14
5-41155088-T-C	C6	c.2087A>G	p.Asp696Gly	Missense	14/18	-
22-38476276-C-T	SLC16A8	c.1198+571G>A	-	IntronicSNV	-	4/4
15-75015045-C-G	CYP1A1	c.394G>C	p.Ala132Pro	Missense	2/7	-
3-171394618-T-A	PLD1	c.2002A>T	p.Ile668Phe	Missense	18/27	-
10-69672479-G-A	SIRT1	c.1606G>A	p.Glu536Lys	Missense	8/9	-
15-66615250-A-G	DIS3L	c.1303A>G	p.Ile435Val	Missense	10/17	-
21-46888545-G-A	COL18A1	c.1036G>A	p.Ala346Thr	Missense	2/41	-
2-165584614-T-C	COBLL1	c.526A>G	p.Ile176Val	Missense	4/14	-
1-151496718-C-T	CGN	c.1285C>T	p.Arg429Cys	Missense	7/21	-
15-42448659-C-A	PLA2G4F	c.89G>T	p.Gly30Val	Missense	1/20	-
4-128694706-C-T	SLC25A31	c.925C>T	p.His309Tyr	Missense	6/6	-
15-89755113-A-C	RLBP1	c.545T>G	p.Phe182Cys	Missense	7/9	-
12-7241570-C-G	C1R	c.781G>C	-	missense_variant	6/9	-
12-7241570-C-A	C1R	c.781G>T	-	missense_variant	6/9	-
12-7241570-C-T	C1R	c.781G>A	-	missense_variant	6/9	-
20-23065548-C-T	CD93	c.1282G>A	p.Val428Met	Missense	1/2	-
15-62283295-T-C	VPS13C	c.1355-2A>G	-	IntronicSNV	-	15/82
4-110670750-G-A	CFI	c.949C>T	p.Arg317Trp	Missense	9/13	-
8-123966052-A-G	ZHX2	c.2302A>G	p.Thr768Ala	Missense	3/4	-
1-186107048-G-A	HMCN1	c.13868G>A	p.Arg4623Gln	Missense	89/107	-
11-59940500-C-T	MS4A6A	c.736G>A	p.Val246Met	Missense	7/7	-
1-230379092-A-T	GALNT2	c.648A>T	p.Gln216His	Missense	7/16	-
5-75913784-T-C	F2RL2	c.748A>G	p.Asn250Asp	Missense	2/2	-
16-2124321-C-A	TSC2	c.2476C>A	p.Leu826Met	Missense	22/42	-
10-50667120-T-C	ERCC6	c.4223A>G	p.Glu1408Gly	Missense	21/21	-
16-2112998-A-G	TSC2	c.1387A>G	p.Ile463Val	Missense	14/42	-
17-80280768-G-A	SECTM1	c.523C>T	p.Gln175*	Nonsense	4/5	-
17-78896587-G-A	RPTOR	c.2584G>A	p.Ala862Thr	Missense	22/34	-
2-165551103-T-G	COBLL1	c.2913A>C	p.Lys971Asn	Missense	12/14	-
14-62207575-G-A	HIF1A	c.1762G>A	p.Ala588Thr	Missense	12/15	-
10-98825794-C-T	SLIT1	c.463G>A	p.Gly155Arg	Missense	5/37	-
17-61574284-C-T	ACE	c.3629C>T	p.Thr1210Met	Missense	24/25	-
1-207307932-G-A	C4BPA	c.1268G>A	p.Gly423Glu	Missense	9/12	-
16-17292204-G-C	XYLT1	c.1154C>G	p.Pro385Arg	Missense	5/12	-
1-207646222-G-A	CR2	c.1676G>A	p.Gly559Glu	Missense	10/19	-
1-207646222-G-C	CR2	c.1676G>C	p.Gly559Ala	Missense	10/19	-
1-203455861-A-T	PRELP	c.1001A>T	p.Asn334Ile	Missense	3/3	-
1-100349757-A-G	AGL	c.2390A>G	p.Asn797Ser	Missense	18/34	-
20-44639599-C-A	MMP9	c.559C>A	p.Leu187Ile	Missense	4/13	-
4-110681766-A-G	CFI	c.685T>C	p.Cys229Arg	Missense	5/13	-
11-6432427-G-A	APBB1	c.151C>T	p.Arg51Cys	Missense	2/15	-
17-73728300-G-C	ITGB4	c.1434G>C	p.Gln478His	Missense	12/40	-
5-41186186-T-G	C6	c.712A>C	p.Asn238His	Missense	6/18	-
20-23064912-T-C	CD93	c.1918A>G	p.Met640Val	Missense	1/2	-
16-17228439-C-T	XYLT1	c.1918G>A	p.Gly640Ser	Missense	9/12	-
1-120459251-G-T	NOTCH2	c.6094C>A	p.His2032Asn	Missense	34/34	-
2-187511466-A-G	ITGAV	c.1213A>G	p.Ile405Val	Missense	13/30	-
4-110682680-C-G	CFI	c.651G>C	p.Gln217His	Missense	4/13	-
22-38516893-C-T	PLA2G6	c.1453G>A	p.Gly485Ser	Missense	11/16	-
1-120458122-A-G	NOTCH2	c.7223T>C	p.Leu2408Pro	Missense	34/34	-
1-120458122-A-T	NOTCH2	c.7223T>A	p.Leu2408His	Missense	34/34	-
6-401527-C-T	IRF4	c.846C>T	p.Asp282Asp	Synonymous	7/9	-
6-30680111-T-C	MDC1	c.1608A>G	p.Ile536Met	Missense	5/15	-
11-59940500-C-A	MS4A6A	c.736G>T	p.Val246Leu	Missense	7/7	-
21-46876004-C-T	COL18A1	c.560C>T	p.Thr187Ile	Missense	1/41	-
21-46876004-C-A	COL18A1	c.560C>A	p.Thr187Asn	Missense	1/41	-
1-183197677-C-A	LAMC2	c.1637C>A	p.Ala546Asp	Missense	11/23	-
4-55972029-C-T	KDR	c.1615G>A	p.Gly539Arg	Missense	12/30	-
9-6250600-G-T	IL33	c.217+1G>T	-	IntronicSNV	-	3/7
9-130588920-G-A	ENG	c.392C>T	p.Pro131Leu	Missense	4/14	-
1-183090920-A-G	LAMC1	c.2053A>G	p.Thr685Ala	Missense	12/28	-
1-183090920-A-C	LAMC1	c.2053A>C	p.Thr685Pro	Missense	12/28	-
8-18258126-A-T	NAT2	c.613A>T	p.Met205Leu	Missense	2/2	-
22-45972941-G-A	FBLN1	c.1925G>A	p.Arg642Gln	Missense	16/17	-
22-45972941-G-T	FBLN1	c.1925G>T	p.Arg642Leu	Missense	16/17	-
20-23065584-C-T	CD93	c.1246G>A	p.Val416Ile	Missense	1/2	-
1-94543389-C-T	ABCA4	c.1411G>A	p.Glu471Lys	Missense	11/50	-
21-46932115-G-T	COL18A1	c.4354G>T	-	missense_variant	41/41	-
21-46932115-G-C	COL18A1	c.4354G>C	-	missense_variant	41/41	-
3-9965636-C-A	IL17RC	c.649C>A	p.His217Asn	Missense	7/18	-
7-99802331-C-T	STAG3	c.2884C>T	p.Arg962Trp	Missense	27/34	-
6-32178570-C-T	NOTCH4	c.2824G>A	p.Gly942Arg	Missense	18/30	-
6-32041621-G-T	TNXB	c.4484C>A	p.Thr1495Lys	Missense	12/44	-
12-52579331-C-T	KRT80	c.341G>A	p.Arg114His	Missense	2/9	-
1-120469147-T-C	NOTCH2	c.3980A>G	p.Asp1327Gly	Missense	24/34	-
6-70990715-C-T	COL9A1	c.904G>A	p.Gly302Ser	Missense	9/38	-
9-87338515-C-A	NTRK2	c.611C>A	p.Pro204His	Missense	9/15	-
16-76486472-A-G	CNTNAP4	c.1136A>G	-	missense_variant	9/25	-
8-6371240-C-T	ANGPT2	c.1158G>A	p.Leu386Leu	Synonymous	7/9	-
8-6371240-C-G	ANGPT2	c.1158G>C	p.Leu386Phe	Missense	7/9	-
8-6371240-C-A	ANGPT2	c.1158G>T	p.Leu386Phe	Missense	7/9	-
6-30652729-G-A	PPP1R18	c.1067C>T	p.Pro356Leu	Missense	1/3	-
15-42734562-G-C	ZNF106	c.3403C>G	p.Arg1135Gly	Missense	7/19	-
10-88422062-G-T	OPN4	c.1127G>T	p.Arg376Leu	Missense	8/10	-
10-88422062-G-A	OPN4	c.1127G>A	p.Arg376His	Missense	8/10	-
6-32170037-A-C	NOTCH4	c.3571T>G	p.Cys1191Gly	Missense	21/30	-
6-32170037-A-G	NOTCH4	c.3571T>C	p.Cys1191Arg	Missense	21/30	-
17-73728022-G-A	ITGB4	c.1345G>A	p.Gly449Ser	Missense	11/40	-
19-1059056-G-T	ABCA7	c.5435G>T	p.Arg1812Leu	Missense	40/47	-
19-1059056-G-A	ABCA7	c.5435G>A	p.Arg1812His	Missense	40/47	-
1-182026596-C-T	ZNF648	c.550G>A	p.Ala184Thr	Missense	2/2	-
6-161152206-T-A	PLG	c.1380T>A	p.Ser460Arg	Missense	11/19	-
2-21225912-C-G	APOB	c.12382G>C	p.Val4128Leu	Missense	29/29	-
2-227660067-C-T	IRS1	c.3388G>A	p.Gly1130Ser	Missense	1/2	-
17-61562654-C-T	ACE	c.1979C>T	p.Ser660Phe	Missense	13/25	-
15-75012979-G-T	CYP1A1	c.1390C>A	p.Arg464Ser	Missense	7/7	-
2-21238367-C-T	APOB	c.3383G>A	p.Arg1128His	Missense	22/29	-
16-23200921-G-A	SCNN1G	c.547G>A	p.Gly183Ser	Missense	3/13	-
1-155028450-C-A	ADAM15	c.718C>A	p.Leu240Met	Missense	8/21	-
7-94038649-G-A	COL1A2	c.808G>A	p.Val270Ile	Missense	17/52	-
6-116422098-C-A	NT5DC1	c.5C>A	p.Ala2Asp	Missense	1/12	-
22-42526712-G-A	CYP2D6	c.82C>T	p.Arg28Cys	Missense	1/9	-
22-42526712-G-T	CYP2D6	c.82C>A	p.Arg28Ser	Missense	1/9	-
4-1806629-C-T	FGFR3	c.1345C>T	p.Pro449Ser	Missense	10/18	-
12-57556205-C-T	LRP1	c.2308C>T	p.Arg770Trp	Missense	14/89	-
13-28885760-G-A	FLT1	c.3602C>T	p.Pro1201Leu	Missense	27/30	-
12-123798209-T-C	SBNO1	c.3175A>G	p.Met1059Val	Missense	24/32	-
15-42630673-A-G	GANC	c.1828A>G	p.Ile610Val	Missense	16/24	-
1-196927185-G-T	CFHR2	c.595G>T	p.Glu199*	Nonsense	4/5	-
6-116325150-C-G	FRK	c.356G>C	p.Gly119Ala	Missense	2/8	-
19-54848826-C-A	LILRA4	c.797G>T	p.Arg266Leu	Missense	5/8	-
9-15214237-T-C	TTC39B	c.382A>G	p.Thr128Ala	Missense	4/20	-
9-15214237-T-G	TTC39B	c.382A>C	p.Thr128Pro	Missense	4/20	-
1-27699991-G-T	FCN3	c.253C>A	p.Arg85Arg	Synonymous	4/8	-
1-27699991-G-A	FCN3	c.253C>T	p.Arg85Trp	Missense	4/8	-
3-107466840-C-T	BBX	c.779C>T	p.Ala260Val	Missense	9/17	-
10-105798263-C-T	COL17A1	c.2971G>A	p.Val991Met	Missense	45/56	-
15-42568547-C-G	GANC	c.31C>G	p.Leu11Val	Missense	2/24	-
15-42568547-C-A	GANC	c.31C>A	p.Leu11Ile	Missense	2/24	-
3-39307927-T-C	CX3CR1	c.74A>G	p.Asp25Gly	Missense	2/2	-
17-4540514-C-T	ALOX15	c.847G>A	p.Gly283Arg	Missense	7/14	-
21-47423649-A-C	COL6A1	c.2809A>C	p.Lys937Gln	Missense	35/35	-
15-66812943-C-T	ZWILCH	c.536C>T	p.Ser179Phe	Missense	6/19	-
1-183177132-G-A	LAMC2	c.196G>A	p.Glu66Lys	Missense	2/23	-
7-100420010-G-A	EPHB4	c.691C>T	p.Pro231Ser	Missense	4/17	-
4-110638764-A-G	PLA2G12A	c.391T>C	p.Cys131Arg	Missense	3/4	-
10-55973766-C-T	PCDH15	c.1028G>A	p.Arg343Lys	Missense	10/33	-
5-5239309-G-A	ADAMTS16	c.2200G>A	p.Val734Ile	Missense	15/23	-
5-40959622-C-T	C7	c.1561C>T	p.Arg521Cys	Missense	12/18	-
19-1056931-G-A	ABCA7	c.4612G>A	p.Val1538Ile	Missense	34/47	-
8-2054361-C-T	MYOM2	c.2972C>T	p.Ser991Phe	Missense	23/37	-
6-30459130-A-C	HLA-E	c.827A>C	p.Gln276Pro	Missense	4/8	-
10-135345657-G-T	CYP2E1	c.517G>T	p.Gly173Cys	Missense	4/9	-
10-135345657-G-A	CYP2E1	c.517G>A	p.Gly173Ser	Missense	4/9	-
6-161137766-G-A	PLG	c.758G>A	p.Arg253His	Missense	7/19	-
4-110681679-C-T	CFI	c.772G>A	p.Ala258Thr	Missense	5/13	-
9-107554263-C-A	ABCA1	c.5774G>T	p.Arg1925Leu	Missense	43/50	-
11-10327547-C-G	ADM	c.150C>G	p.Ser50Arg	Missense	3/4	-
15-42643546-C-A	GANC	c.2551C>A	p.His851Asn	Missense	23/24	-
6-32159674-G-A	GPSM3	c.157C>T	p.Arg53Cys	Missense	7/8	-
16-57394360-G-A	CCL22	c.85G>A	p.Ala29Thr	Missense	2/3	-
7-99706052-C-A	AP4M1	c.*1547C>A	-	IntergenicSNV	15/15	-
19-6707931-C-T	C3	c.1855G>A	p.Val619Met	Missense	15/41	-
7-150696076-G-A	NOS3	c.859G>A	p.Asp287Asn	Missense	8/27	-
6-31742367-C-T	VWA7	c.647G>A	p.Ser216Asn	Missense	5/17	-
1-20440717-C-T	PLA2G2D	c.*32G>A	-	3-UTRSNV	3/3	-
1-207818658-T-G	CR1L	c.80T>G	p.Leu27Arg	Missense	1/12	-
21-47423040-A-G	COL6A1	c.2441A>G	p.Lys814Arg	Missense	34/35	-
15-90328681-G-A	ANPEP	c.2803C>T	p.Arg935Trp	Missense	21/21	-
8-18729350-G-A	PSD3	c.1024C>T	p.Arg342Cys	Missense	3/16	-
4-110890274-G-A	EGF	c.1723G>A	p.Gly575Arg	Missense	11/23	-
8-23058188-T-C	TNFRSF10A	c.703+12A>G	-	IntronicSNV	-	5/9
8-23058188-T-A	TNFRSF10A	c.703+12A>T	-	IntronicSNV	-	5/9
18-334748-C-T	COLEC12	c.1810G>A	p.Asp604Asn	Missense	6/10	-
18-334748-C-G	COLEC12	c.1810G>C	p.Asp604His	Missense	6/10	-
6-31778948-C-T	HSPA1L	c.802G>A	p.Ala268Thr	Missense	2/2	-
5-41176765-G-A	C6	c.980C>T	p.Thr327Met	Missense	8/18	-
2-215882749-G-T	ABCA12	c.1765C>A	p.Pro589Thr	Missense	14/53	-
15-66621382-G-A	DIS3L	c.2027G>A	p.Arg676His	Missense	13/17	-
7-80292426-G-A	CD36	c.550G>A	p.Asp184Asn	Missense	6/14	-
3-9970088-C-T	IL17RC	c.932C>T	p.Ala311Val	Missense	10/18	-
9-133928039-G-A	LAMC3	c.1792G>A	p.Gly598Arg	Missense	10/28	-
20-23065733-C-T	CD93	c.1097G>A	p.Arg366His	Missense	1/2	-
20-23065733-C-G	CD93	c.1097G>C	p.Arg366Pro	Missense	1/2	-
10-26792144-G-A	APBB1IP	c.472G>A	p.Ala158Thr	Missense	6/15	-
17-48275339-G-C	COL1A1	c.613C>G	p.Pro205Ala	Missense	8/51	-
1-196965193-G-A	CFHR5	c.832G>A	p.Gly278Ser	Missense	6/10	-
6-76660397-T-C	IMPG1	c.1706A>G	p.Lys569Arg	Missense	13/17	-
16-23200963-G-A	SCNN1G	c.589G>A	p.Glu197Lys	Missense	3/13	-
20-60908497-G-A	LAMA5	c.3062C>T	p.Ala1021Val	Missense	25/80	-
15-62300929-A-G	VPS13C	c.914T>C	p.Val305Ala	Missense	12/83	-
19-47823149-C-G	C5AR1	c.115C>G	p.Leu39Val	Missense	2/2	-
9-136320444-G-T	ADAMTS13	c.3287G>T	p.Arg1096Leu	Missense	25/29	-
11-116661001-G-A	APOA5	c.944C>T	p.Ala315Val	Missense	4/4	-
3-171455697-G-C	PLD1	c.145C>G	p.Pro49Ala	Missense	2/27	-
6-70972993-T-C	COL9A1	c.1349A>G	p.Glu450Gly	Missense	19/38	-
15-42743265-A-G	ZNF106	c.1136T>C	p.Leu379Pro	Missense	2/19	-
1-100343254-G-C	AGL	c.1481G>C	p.Arg494Pro	Missense	12/34	-
11-10514930-A-G	AMPD3	c.1001A>G	p.Asn334Ser	Missense	7/15	-
1-203452409-G-T	PRELP	c.97G>T	p.Gly33Trp	Missense	2/3	-
5-75913927-C-T	F2RL2	c.605G>A	p.Arg202Gln	Missense	2/2	-
5-174869045-G-A	DRD1	c.1058C>T	p.Ala353Val	Missense	2/2	-
11-65639462-G-C	EFEMP2	c.139C>G	p.Pro47Ala	Missense	3/11	-
18-50592531-A-C	DCC	c.1256A>C	p.Lys419Thr	Missense	7/29	-
6-32097421-G-A	FKBPL	c.137C>T	p.Thr46Met	Missense	2/2	-
6-31915584-A-C	CFB	c.724A>C	p.Ile242Leu	Missense	5/18	-
6-31915584-A-G	CFB	c.724A>G	p.Ile242Val	Missense	5/18	-
1-57397497-A-T	C8B	c.1607T>A	p.Val536Asp	Missense	11/12	-
3-52550173-G-A	STAB1	c.4063G>A	p.Glu1355Lys	Missense	38/69	-
7-2752456-C-T	AMZ1	c.1441C>T	p.Arg481*	Nonsense	7/7	-
1-183196682-A-C	LAMC2	c.1318A>C	p.Ile440Leu	Missense	10/23	-
3-118624560-C-T	IGSF11	c.586G>A	p.Val196Ile	Missense	5/7	-
11-65639462-G-A	EFEMP2	c.139C>T	p.Pro47Ser	Missense	3/11	-
15-66857613-A-G	LCTL	c.91T>C	p.Ser31Pro	Missense	2/14	-
4-110662068-A-G	CFI	c.1733T>C	p.Ile578Thr	Missense	13/13	-
15-62212467-C-T	VPS13C	c.7147G>A	p.Val2383Ile	Missense	55/83	-
12-2694651-C-T	CACNA1C	c.2449C>T	p.Pro817Ser	Missense	17/47	-
9-137293514-C-T	RXRA	c.65C>T	p.Pro22Leu	Missense	2/10	-
12-9346789-A-G	PZP	c.1138T>C	p.Phe380Leu	Missense	11/36	-
1-227071449-G-A	PSEN2	c.185G>A	p.Arg62His	Missense	5/13	-
7-99704892-C-T	AP4M1	c.*387C>T	-	IntergenicSNV	15/15	-
10-105816916-C-T	COL17A1	c.1282G>A	p.Gly428Ser	Missense	17/56	-
12-9346789-A-T	PZP	c.1138T>A	p.Phe380Ile	Missense	11/36	-
20-52774675-G-C	CYP24A1	c.1186C>G	p.Arg396Gly	Missense	9/12	-
17-37814687-G-A	STARD3	c.446G>A	p.Cys149Tyr	Missense	6/15	-
20-52774675-G-A	CYP24A1	c.1186C>T	p.Arg396Trp	Missense	9/12	-