PMID: 25469153

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & ageing : I & A

F Villa, A Maciąg, CC Spinelli, A Ferrario, A Carrizzo, A Parisi, A Torella, C Montenero, G Condorelli, C Vecchione, V Nigro, AS Montenero, AA Puca

2014

1701 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
10-29581493-A-C	LYZL1	c.185A>C	-	missense_variant	3/5	-
6-53133964-C-A	ELOVL5	c.861G>T	p.Leu287Leu	Synonymous	8/8	-
21-47754471-G-A	PCNT	c.428G>A	p.Arg143His	Missense	3/47	-
6-52702355-C-T	GSTA5	c.139+1G>A	-	IntronicSNV	-	3/6
14-92922782-G-A	SLC24A4	c.1085G>A	p.Ser362Asn	Missense	12/17	-
14-68272021-C-A	ZFYVE26	c.1184G>T	p.Gly395Val	Missense	8/42	-
19-52000187-C-T	SIGLEC12	c.1546G>A	p.Val516Met	Missense	7/8	-
17-39346622-T-A	KRTAP9-1	c.484T>A	p.Cys162Ser	Missense	1/1	-
3-48463856-G-A	PLXNB1	c.1303C>T	p.Pro435Ser	Missense	5/38	-
3-195514969-G-T	MUC4	c.3482C>A	p.Ala1161Glu	Missense	2/25	-
3-195514969-G-A	MUC4	c.3482C>T	p.Ala1161Val	Missense	2/25	-
20-52198138-T-C	ZNF217	c.1228A>G	p.Met410Val	Missense	1/5	-
8-17815082-T-G	PCM1	c.1838T>G	p.Ile613Ser	Missense	13/39	-
11-63449125-C-A	RTN3	c.17C>A	p.Ala6Glu	Missense	1/7	-
15-43819450-A-C	MAP1A	c.5779A>C	p.Lys1927Gln	Missense	4/6	-
2-190719607-G-A	PMS1	c.1609G>A	p.Glu537Lys	Missense	9/13	-
14-64588825-C-T	SYNE2	c.13254C>T	p.Asn4418Asn	Synonymous	69/116	-
14-64588825-C-A	SYNE2	c.13254C>A	p.Asn4418Lys	Missense	69/116	-
11-73105341-C-A	RELT	c.767C>A	p.Thr256Lys	Missense	8/11	-
16-1306642-C-T	TPSD1	c.208C>T	p.Leu70Phe	Missense	2/5	-
4-89358080-A-C	HERC6	c.2333A>C	p.Asp778Ala	Missense	18/22	-
X-153175784-G-A	ARHGAP4	c.1997C>T	p.Pro666Leu	Missense	17/22	-
4-184585165-G-A	TRAPPC11	c.145G>A	p.Val49Ile	Missense	2/30	-
19-7585663-T-C	ZNF358	c.1535T>C	p.Leu512Pro	Missense	2/2	-
13-25670676-G-A	PABPC3	c.340G>A	p.Ala114Thr	Missense	1/1	-
14-105414377-C-A	AHNAK2	c.7411G>T	p.Val2471Leu	Missense	7/7	-
14-105414377-C-G	AHNAK2	c.7411G>C	p.Val2471Leu	Missense	7/7	-
8-11995062-G-A	USP17L2	c.1208C>T	p.Ala403Val	Missense	1/1	-
X-24329701-C-G	SUPT20HL2	c.1732G>C	p.Val578Leu	Missense	1/1	-
14-76644342-C-T	GPATCH2L	c.1064C>T	p.Ala355Val	Missense	7/10	-
9-138439086-T-A	OBP2A	c.269T>A	p.Phe90Tyr	Missense	3/7	-
12-52822142-A-G	KRT75	c.1280T>C	p.Met427Thr	Missense	7/9	-
1-152185824-G-A	HRNR	c.8281C>T	p.Arg2761*	Nonsense	3/3	-
20-3732265-G-T	HSPA12B	c.1513G>T	p.Ala505Ser	Missense	13/13	-
19-53217339-C-T	ZNF611	c.119G>A	p.Cys40Tyr	Missense	6/7	-
19-53217339-C-A	ZNF611	c.119G>T	p.Cys40Phe	Missense	6/7	-
17-39578424-G-T	KRT37	c.917C>A	p.Ala306Asp	Missense	5/7	-
11-49204779-C-T	FOLH1	c.842G>A	p.Arg281His	Missense	7/19	-
11-71712680-A-T	IL18BP	c.507+82A>T	-	IntronicSNV	-	4/4
16-12145791-G-C	SNX29	c.836G>C	p.Gly279Ala	Missense	8/21	-
16-12145791-G-A	SNX29	c.836G>A	p.Gly279Glu	Missense	8/21	-
2-179647297-C-T	TTN	c.3133G>A	p.Val1045Met	Missense	19/312	-
19-40408821-C-G	FCGBP	c.4018G>C	p.Val1340Leu	Missense	8/36	-
19-40408821-C-T	FCGBP	c.4018G>A	p.Val1340Met	Missense	8/36	-
11-101454192-G-A	TRPC6	c.43C>T	p.Pro15Ser	Missense	1/13	-
19-45316588-G-T	BCAM	c.586G>T	p.Val196Leu	Missense	5/15	-
19-45316588-G-A	BCAM	c.586G>A	p.Val196Ile	Missense	5/15	-
12-58016890-T-G	SLC26A10	c.1023T>G	p.Asn341Lys	Missense	7/14	-
16-88599659-G-T	ZFPM1	c.1293G>T	p.Lys431Asn	Missense	10/10	-
16-88599659-G-C	ZFPM1	c.1293G>C	p.Lys431Asn	Missense	10/10	-
16-88599659-G-A	ZFPM1	c.1293G>A	p.Lys431Lys	Synonymous	10/10	-
3-195508046-C-T	MUC4	c.10405G>A	p.Asp3469Asn	Missense	2/25	-
5-135288632-A-G	LECT2	c.71T>C	p.Ile24Thr	Missense	2/4	-
11-1269215-C-T	MUC5B	c.11105C>T	p.Thr3702Met	Missense	31/49	-
4-124323155-G-C	SPRY1	c.409G>C	p.Gly137Arg	Missense	3/3	-
X-24197706-T-A	ZFX	c.465T>A	p.His155Gln	Missense	5/10	-
6-170627797-A-G	FAM120B	c.1319A>G	p.Tyr440Cys	Missense	2/11	-
16-1291175-G-A	TPSAB1	c.83G>A	p.Arg28Gln	Missense	3/6	-
6-152674464-C-A	SYNE1	c.11187G>T	p.Lys3729Asn	Missense	69/146	-
14-105418264-G-C	AHNAK2	c.3524C>G	p.Ala1175Gly	Missense	7/7	-
14-105418264-G-A	AHNAK2	c.3524C>T	p.Ala1175Val	Missense	7/7	-
19-17395018-G-A	ANKLE1	c.1481G>A	p.Arg494Lys	Missense	7/9	-
4-75937914-G-C	PARM1	c.323G>C	p.Gly108Ala	Missense	2/4	-
16-67003618-C-A	CES3	c.1099C>A	p.Arg367Arg	Synonymous	9/13	-
11-1272167-C-T	MUC5B	c.14057C>T	p.Thr4686Met	Missense	31/49	-
11-1272167-C-G	MUC5B	c.14057C>G	p.Thr4686Arg	Missense	31/49	-
19-55715342-C-T	PTPRH	c.353-1652G>A	-	IntronicSNV	-	3/17
2-231120209-G-A	SP140	c.1202G>A	p.Arg401His	Missense	12/27	-
21-46057422-T-A	TSPEAR	c.83-69533A>T	-	IntronicSNV	-	1/11
21-46057422-T-C	TSPEAR	c.83-69533A>G	-	IntronicSNV	-	1/11
10-118225571-C-T	PNLIPRP3	c.818C>T	p.Ser273Phe	Missense	8/12	-
10-118225571-C-A	PNLIPRP3	c.818C>A	p.Ser273Tyr	Missense	8/12	-
9-136268952-G-A	STKLD1	c.1603G>A	p.Gly535Ser	Missense	15/18	-
3-52563199-A-T	NT5DC2	c.273T>A	p.Ser91Arg	Missense	2/14	-
21-47754549-G-A	PCNT	c.506G>A	p.Arg169His	Missense	3/47	-
1-1599812-C-A	SLC35E2B	c.934G>T	p.Val312Phe	Missense	8/9	-
1-1599812-C-G	SLC35E2B	c.934G>C	p.Val312Leu	Missense	8/9	-
2-231120209-G-T	SP140	c.1202G>T	p.Arg401Leu	Missense	12/27	-
2-231120209-G-C	SP140	c.1202G>C	p.Arg401Pro	Missense	12/27	-
1-24447801-T-C	IL22RA1	c.1219A>G	p.Met407Val	Missense	7/7	-
1-24447801-T-A	IL22RA1	c.1219A>T	p.Met407Leu	Missense	7/7	-
2-120005555-G-A	STEAP3	c.793G>A	p.Val265Met	Missense	4/6	-
15-75982085-C-T	CSPG4	c.1321G>A	p.Glu441Lys	Missense	3/10	-
9-133995629-A-G	AIF1L	c.373A>G	p.Met125Val	Missense	6/6	-
19-40366240-G-A	FCGBP	c.13994C>T	p.Pro4665Leu	Missense	30/36	-
6-27840982-C-T	HIST1H4L	c.307G>A	p.Gly103Ser	Missense	1/1	-
17-7852724-C-T	CNTROB	c.2608C>T	p.Arg870Cys	Missense	19/19	-
5-140221139-G-A	PCDHA1	c.2394+52870G>A	-	IntronicSNV	-	1/3
17-7852724-C-G	CNTROB	c.2608C>G	p.Arg870Gly	Missense	19/19	-
19-45296806-C-T	CBLC	c.1213C>T	p.His405Tyr	Missense	8/11	-
19-13059563-G-A	RAD23A	c.536G>A	p.Arg179Gln	Missense	5/9	-
19-45296806-C-G	CBLC	c.1213C>G	p.His405Asp	Missense	8/11	-
13-23904298-T-G	SACS	c.13717A>C	p.Asn4573His	Missense	10/10	-
22-24919586-G-A	UPB1	c.917-1G>A	-	IntronicSNV	-	8/9
1-12907350-C-T	HNRNPCL1	c.793G>A	p.Asp265Asn	Missense	2/2	-
11-70331642-G-A	SHANK2	c.4610C>T	p.Ala1537Val	Missense	26/27	-
3-42567381-C-T	VIPR1	c.295C>T	p.Arg99Cys	Missense	4/13	-
1-201926422-G-A	TIMM17A	c.40G>A	p.Val14Met	Missense	2/6	-
22-21800277-G-A	HIC2	c.1093G>A	p.Glu365Lys	Missense	3/3	-
16-2140294-C-G	PKD1	c.12433G>C	p.Val4145Leu	Missense	45/46	-
1-24397636-A-G	MYOM3	c.3121T>C	p.Phe1041Leu	Missense	25/37	-
5-179105675-G-C	CBY3	c.638C>G	p.Ala213Gly	Missense	2/2	-
10-76855417-C-A	DUSP13	c.*618G>T	-	3_prime_UTR_variant	7/8	-
1-151288780-T-G	PI4KB	c.214A>C	p.Lys72Gln	Missense	3/13	-
1-45923405-C-T	TESK2	c.53G>A	p.Arg18His	Missense	2/11	-
4-68810346-T-C	TMPRSS11A	c.143A>G	p.Lys48Arg	Missense	3/10	-
9-97082699-G-A	NUTM2F	c.1159C>T	p.Pro387Ser	Missense	5/7	-
12-69140339-G-C	SLC35E3	c.182G>C	p.Cys61Ser	Missense	1/5	-
12-56737251-C-A	STAT2	c.2478G>T	p.Gln826His	Missense	24/24	-
9-134308126-G-A	PRRC2B	c.238G>A	p.Val80Ile	Missense	2/31	-
22-30189643-G-A	ASCC2	c.1711C>T	p.Arg571Trp	Missense	16/20	-
1-45276242-C-G	BTBD19	c.317C>G	p.Thr106Arg	Missense	3/8	-
12-11183708-T-C	TAS2R31	c.227A>G	p.Tyr76Cys	Missense	1/1	-
13-21957120-G-A	ZDHHC20	c.883C>T	p.Arg295Cys	Missense	10/12	-
13-61989290-A-C	PCDH20	c.2T>G	p.Met1Arg	Missense	1/2	-
7-100677630-C-T	MUC17	c.2933C>T	p.Pro978Leu	Missense	3/13	-
1-20960385-A-C	PINK1	c.344A>C	p.Gln115Pro	Missense	1/8	-
1-44202061-G-C	ST3GAL3	c.128G>C	p.Ser43Thr	Missense	2/13	-
14-105412259-G-T	AHNAK2	c.9529C>A	p.Leu3177Met	Missense	7/7	-
2-109276099-G-T	LIMS1	c.35G>T	p.Arg12Leu	Missense	2/10	-
10-81317045-G-T	SFTPA2	c.667C>A	p.Gln223Lys	Missense	6/6	-
14-23859610-C-T	MYH6	c.3388G>A	p.Ala1130Thr	Missense	26/39	-
19-22498942-G-A	ZNF729	c.2723G>A	p.Cys908Tyr	Missense	4/4	-
11-308314-T-C	IFITM2	c.122T>C	p.Met41Thr	Missense	1/2	-
16-70161263-T-A	PDPR	c.328T>A	p.Tyr110Asn	Missense	4/19	-
3-39230740-C-G	XIRP1	c.197G>C	p.Arg66Pro	Missense	2/2	-
2-135745064-T-C	MAP3K19	c.1378A>G	p.Ser460Gly	Missense	7/10	-
1-201754444-G-C	NAV1	c.2811G>C	p.Gln937His	Missense	8/30	-
14-105412259-G-C	AHNAK2	c.9529C>G	p.Leu3177Val	Missense	7/7	-
7-100679760-G-A	MUC17	c.5063G>A	p.Gly1688Glu	Missense	3/13	-
3-195512767-T-C	MUC4	c.5684A>G	p.Asn1895Ser	Missense	2/25	-
4-88537063-A-T	DSPP	c.3249A>T	p.Glu1083Asp	Missense	5/5	-
4-88537063-A-G	DSPP	c.3249A>G	p.Glu1083Glu	Synonymous	5/5	-
4-88537063-A-C	DSPP	c.3249A>C	p.Glu1083Asp	Missense	5/5	-
7-100678527-G-T	MUC17	c.3830G>T	p.Ser1277Ile	Missense	3/13	-
1-233802497-G-A	KCNK1	c.512G>A	p.Arg171His	Missense	2/3	-
7-76240888-A-T	POMZP3	c.458T>A	p.Leu153Gln	Missense	6/7	-
16-89258747-A-C	CDH15	c.1750A>C	p.Lys584Gln	Missense	11/14	-
20-48467309-T-G	SLC9A8	c.545T>G	p.Phe182Cys	Missense	7/16	-
8-21981218-C-T	HR	c.1859G>A	p.Arg620Gln	Missense	6/19	-
19-51584858-C-T	KLK14	c.143G>A	-	missense_variant	4/7	-
1-110256127-G-A	GSTM5	c.199G>A	p.Ala67Thr	Missense	4/8	-
15-59806496-G-A	FAM81A	c.659G>A	p.Gly220Asp	Missense	7/9	-
15-59806496-G-T	FAM81A	c.659G>T	p.Gly220Val	Missense	7/9	-
2-160673519-G-C	LY75-CD302	c.4178C>G	p.Thr1393Ser	Missense	30/39	-
1-161642982-G-A	FCGR2B	c.609G>A	p.Thr203Thr	Synonymous	4/8	-
16-84778685-A-G	USP10	c.610A>G	p.Met204Val	Missense	5/15	-
2-189918622-G-A	COL5A2	c.2498C>T	p.Pro833Leu	Missense	37/54	-
14-23744823-A-C	HOMEZ	c.1614T>G	p.Asp538Glu	Missense	2/2	-
14-23744823-A-T	HOMEZ	c.1614T>A	p.Asp538Glu	Missense	2/2	-
13-23907724-C-A	SACS	c.10291G>T	p.Val3431Leu	Missense	10/10	-
13-23907724-C-G	SACS	c.10291G>C	p.Val3431Leu	Missense	10/10	-
6-52303361-G-A	EFHC1	c.545G>A	p.Arg182His	Missense	3/11	-
1-161642982-G-T	FCGR2B	c.609G>T	p.Thr203Thr	Synonymous	4/8	-
19-50902196-C-T	POLD1	c.88C>T	p.Arg30Trp	Missense	2/27	-
15-69327727-C-T	NOX5	c.889C>T	p.Arg297Trp	Missense	6/16	-
1-12919646-T-C	PRAMEF2	c.386T>C	p.Met129Thr	Missense	3/4	-
16-31088544-C-A	ZNF646	c.899C>A	p.Pro300His	Missense	2/3	-
22-23915631-G-A	IGLL1	c.464C>T	p.Pro155Leu	Missense	3/3	-
15-83481859-T-A	WHAMM	c.614T>A	p.Ile205Asn	Missense	2/10	-
16-1306642-C-G	TPSD1	c.208C>G	p.Leu70Val	Missense	2/5	-
12-108956417-T-G	ISCU	c.-153T>G	-	5_prime_UTR_variant	1/6	-
4-141294814-G-C	SCOC	c.71-5461G>C	-	IntronicSNV	-	2/4
19-36530913-C-T	THAP8	c.209G>A	p.Arg70His	Missense	2/4	-
5-118506879-A-T	DMXL1	c.6393A>T	p.Arg2131Ser	Missense	24/43	-
5-118506879-A-C	DMXL1	c.6393A>C	p.Arg2131Ser	Missense	24/43	-
19-36530913-C-A	THAP8	c.209G>T	p.Arg70Leu	Missense	2/4	-
1-11718859-C-T	FBXO44	c.430C>T	p.Arg144Cys	Missense	4/5	-
1-177242718-T-C	BRINP2	c.764T>C	p.Val255Ala	Missense	5/8	-
1-11718859-C-G	FBXO44	c.430C>G	p.Arg144Gly	Missense	4/5	-
1-11718859-C-A	FBXO44	c.430C>A	p.Arg144Ser	Missense	4/5	-
14-105416220-T-C	AHNAK2	c.5568A>G	p.Glu1856Glu	Synonymous	7/7	-
14-105416220-T-A	AHNAK2	c.5568A>T	p.Glu1856Asp	Missense	7/7	-
14-105416220-T-G	AHNAK2	c.5568A>C	p.Glu1856Asp	Missense	7/7	-
19-40964447-C-A	BLVRB	c.85G>T	p.Glu29*	Nonsense	2/5	-
1-12907285-G-C	HNRNPCL1	c.858C>G	p.Ser286Arg	Missense	2/2	-
19-40964447-C-T	BLVRB	c.85G>A	p.Glu29Lys	Missense	2/5	-
19-15989730-T-C	CYP4F2	c.1414A>G	p.Thr472Ala	Missense	13/13	-
19-16035680-G-A	CYP4F11	c.538C>T	p.Arg180Cys	Missense	5/12	-
19-16035680-G-T	CYP4F11	c.538C>A	p.Arg180Ser	Missense	5/12	-
7-136935977-C-A	PTN	c.451G>T	p.Ala151Ser	Missense	4/5	-
3-195506318-C-G	MUC4	c.12133G>C	p.Asp4045His	Missense	2/25	-
3-9918818-C-T	CIDEC	c.139G>A	p.Val47Ile	Missense	3/6	-
17-18233949-C-T	SHMT1	c.1091G>A	p.Arg364His	Missense	10/12	-
2-96781257-C-G	ADRA2B	c.632G>C	p.Gly211Ala	Missense	1/1	-
2-96781257-C-A	ADRA2B	c.632G>T	p.Gly211Val	Missense	1/1	-
14-105417581-C-T	AHNAK2	c.4207G>A	p.Glu1403Lys	Missense	7/7	-
6-17637697-G-C	NUP153	c.2244C>G	p.Asp748Glu	Missense	17/23	-
22-51183255-A-G	ACR	c.886A>G	p.Met296Val	Missense	5/5	-
7-100635535-C-T	MUC12	c.1691C>T	p.Ser564Phe	Missense	2/12	-
17-7909747-C-T	GUCY2D	c.1093C>T	p.Arg365Trp	Missense	4/20	-
12-52995020-C-T	KRT72	c.217G>A	p.Gly73Ser	Missense	1/9	-
17-18233949-C-G	SHMT1	c.1091G>C	p.Arg364Pro	Missense	10/12	-
10-88782100-G-C	FAM25A	c.103G>C	p.Val35Leu	Missense	2/3	-
22-43618695-C-A	SCUBE1	c.1381G>T	p.Ala461Ser	Missense	12/22	-
7-100635535-C-G	MUC12	c.1691C>G	p.Ser564Cys	Missense	2/12	-
1-12907285-G-A	HNRNPCL1	c.858C>T	p.Ser286Ser	Synonymous	2/2	-
19-40902776-C-G	PRX	c.*1688G>C	-	3-UTRSNV	6/6	-
11-124742385-G-A	ROBO3	c.1267G>A	p.Val423Met	Missense	8/28	-
5-140626566-A-C	PCDHB15	c.1420A>C	p.Ser474Arg	Missense	1/1	-
4-155411948-C-T	DCHS2	c.560G>A	p.Arg187His	Missense	1/8	-
16-3304626-C-T	MEFV	c.442G>A	p.Glu148Lys	Missense	2/10	-
11-55111500-T-C	OR4A16	c.824T>C	p.Ile275Thr	Missense	1/1	-
19-15234351-C-T	ILVBL	c.172G>A	p.Val58Met	Missense	3/16	-
3-69230592-T-G	FRMD4B	c.2309A>C	p.Asn770Thr	Missense	21/23	-
12-11244438-C-T	TAS2R43	c.391G>A	p.Val131Met	Missense	1/1	-
9-110249816-G-C	KLF4	c.859C>G	p.His287Asp	Missense	3/5	-
1-236180498-C-A	NID1	c.2204G>T	p.Arg735Leu	Missense	10/20	-
21-45959256-C-A	TSPEAR	c.304-5450G>T	-	IntronicSNV	-	2/11
21-45959256-C-G	TSPEAR	c.304-5450G>C	-	IntronicSNV	-	2/11
14-45645715-A-G	FANCM	c.3758A>G	p.Asn1253Ser	Missense	14/23	-
16-46755060-T-C	MYLK3	c.1960A>G	p.Ile654Val	Missense	9/13	-
16-46755060-T-A	MYLK3	c.1960A>T	p.Ile654Phe	Missense	9/13	-
3-195505960-G-A	MUC4	c.12491C>T	p.Thr4164Ile	Missense	2/25	-
1-160057522-C-A	KCNJ9	c.1097C>A	p.Ala366Glu	Missense	3/3	-
14-39716830-C-A	MIA2	c.1052C>A	p.Ala351Asp	Missense	4/6	-
14-39716830-C-T	MIA2	c.1052C>T	p.Ala351Val	Missense	4/6	-
14-105418223-A-G	AHNAK2	c.3565T>C	p.Ser1189Pro	Missense	7/7	-
19-11470370-C-T	PLPPR2	c.229C>T	p.Leu77Leu	Synonymous	4/10	-
19-53268990-C-G	ZNF600	c.2019G>C	p.Lys673Asn	Missense	3/3	-
12-56514414-G-A	ZC3H10	c.68G>A	p.Ser23Asn	Missense	3/3	-
14-45645715-A-T	FANCM	c.3758A>T	p.Asn1253Ile	Missense	14/23	-
20-42355213-G-A	GTSF1L	c.122C>T	p.Ala41Val	Missense	1/1	-
20-19937312-G-A	RIN2	c.359G>A	p.Cys120Tyr	Missense	4/12	-
13-25021263-T-C	PARP4	c.3176A>G	p.Gln1059Arg	Missense	26/34	-
18-44555147-T-G	KATNAL2	c.1-24198T>G	-	IntronicSNV	-	1/14
9-43625382-G-A	SPATA31A6	c.3305C>T	p.Pro1102Leu	Missense	4/4	-
12-129189702-C-G	TMEM132C	c.2189C>G	p.Thr730Ser	Missense	9/9	-
19-41627868-G-A	CYP2F1	c.652G>A	p.Asp218Asn	Missense	6/10	-
17-30372739-C-T	LRRC37B	c.2144C>T	p.Ala715Val	Missense	8/12	-
1-160057522-C-G	KCNJ9	c.1097C>G	p.Ala366Gly	Missense	3/3	-
7-144015437-C-G	OR2A1	c.220C>G	p.Arg74Gly	Missense	1/1	-
14-39716830-C-G	MIA2	c.1052C>G	p.Ala351Gly	Missense	4/6	-
14-105418223-A-T	AHNAK2	c.3565T>A	p.Ser1189Thr	Missense	7/7	-
19-11470370-C-G	PLPPR2	c.229C>G	p.Leu77Val	Missense	4/10	-
2-179594107-G-C	TTN	c.15044C>G	p.Thr5015Ser	Missense	61/312	-
X-6451886-A-G	VCX3A	c.461T>C	p.Leu154Pro	Missense	3/3	-
4-122250654-G-T	QRFPR	c.1111C>A	p.Arg371Arg	Synonymous	6/6	-
1-33235789-C-T	KIAA1522	c.832C>T	p.Pro278Ser	Missense	6/7	-
9-33385863-G-T	AQP7	c.527C>A	p.Ala176Glu	Missense	7/8	-
7-92732769-T-C	SAMD9	c.2642A>G	p.Asp881Gly	Missense	3/3	-
1-114367793-C-T	PTPN22	c.2252G>A	p.Ser751Asn	Missense	19/21	-
8-144944226-G-A	EPPK1	c.3196C>T	p.Arg1066Cys	Missense	2/3	-
4-155411948-C-A	DCHS2	c.560G>T	p.Arg187Leu	Missense	1/8	-
7-143632618-C-T	OR2F2	c.293C>T	p.Ala98Val	Missense	1/1	-
16-4557846-A-T	HMOX2	c.337A>T	p.Met113Leu	Missense	5/7	-
16-4557846-A-G	HMOX2	c.337A>G	p.Met113Val	Missense	5/7	-
14-104194228-A-G	ZFYVE21	c.335A>G	p.Lys112Arg	Missense	3/7	-
1-109801345-C-T	CELSR2	c.3602C>T	p.Pro1201Leu	Missense	2/34	-
6-44233679-G-A	NFKBIE	c.1-179C>T	-	IntergenicSNV	1/6	-
7-39504094-A-C	POU6F2	c.1885A>C	p.Asn629His	Missense	11/11	-
15-81180069-C-T	CEMIP	c.832C>T	p.Pro278Ser	Missense	7/29	-
7-142563253-T-G	EPHB6	c.94T>G	p.Ser32Ala	Missense	7/19	-
X-6451929-C-G	VCX3A	c.418G>C	p.Val140Leu	Missense	3/3	-
X-6451929-C-T	VCX3A	c.418G>A	p.Val140Met	Missense	3/3	-
10-101295456-T-G	NKX2-3	c.1073T>G	p.Leu358Trp	Missense	2/2	-
19-43433676-G-C	PSG7	c.261C>G	p.Asn87Lys	Missense	2/5	-
18-76754584-G-T	SALL3	c.2593G>T	p.Val865Leu	Missense	2/3	-
5-140568412-C-T	PCDHB9	c.1518C>T	-	synonymous_variant	2/2	-
7-100679136-T-C	MUC17	c.4439T>C	p.Val1480Ala	Missense	3/13	-
17-61987812-A-G	CSHL1	c.274T>C	p.Ser92Pro	Missense	3/5	-
17-76121031-C-T	TMC6	c.572G>A	p.Gly191Asp	Missense	7/20	-
12-11546192-G-T	PRB2	c.820C>A	p.Pro274Thr	Missense	3/4	-
7-142563253-T-A	EPHB6	c.94T>A	p.Ser32Thr	Missense	7/19	-
3-105264176-G-A	ALCAM	c.1101G>A	p.Met367Ile	Missense	9/16	-
16-89883007-A-T	FANCA	c.17T>A	p.Val6Asp	Missense	1/43	-
22-39908419-C-T	MIEF1	c.505C>T	p.Arg169Trp	Missense	5/6	-
14-70924566-C-A	ADAM21	c.350C>A	p.Ala117Glu	Missense	2/2	-
21-46057418-G-A	TSPEAR	c.83-69529C>T	-	IntronicSNV	-	1/11
21-46057418-G-C	TSPEAR	c.83-69529C>G	-	IntronicSNV	-	1/11
4-126373018-C-T	FAT4	c.10847C>T	p.Thr3616Met	Missense	9/17	-
11-72413997-G-A	ARAP1	c.2120C>T	p.Ala707Val	Missense	15/35	-
6-38850809-C-A	DNAH8	c.7982C>A	p.Thr2661Asn	Missense	54/93	-
6-38850809-C-G	DNAH8	c.7982C>G	p.Thr2661Ser	Missense	54/93	-
17-7220881-C-T	NEURL4	c.4217G>A	p.Arg1406His	Missense	27/29	-
8-121502795-T-G	MTBP	c.1432T>G	p.Leu478Val	Missense	13/22	-
9-130506916-C-A	SH2D3C	c.1256G>T	p.Arg419Leu	Missense	6/11	-
5-140595343-G-C	PCDHB13	c.1648G>C	p.Val550Leu	Missense	1/1	-
10-135025208-A-G	KNDC1	c.4082A>G	p.Lys1361Arg	Missense	23/30	-
21-43786532-C-T	TFF1	c.73G>A	p.Glu25Lys	Missense	1/3	-
17-5037195-G-C	USP6	c.398G>C	p.Arg133Thr	Missense	7/30	-
17-5037195-G-A	USP6	c.398G>A	p.Arg133Lys	Missense	7/30	-
5-140595343-G-T	PCDHB13	c.1648G>T	p.Val550Leu	Missense	1/1	-
5-140595343-G-A	PCDHB13	c.1648G>A	p.Val550Met	Missense	1/1	-
12-11546192-G-A	PRB2	c.820C>T	p.Pro274Ser	Missense	3/4	-
7-100684593-G-T	MUC17	c.9896G>T	p.Ser3299Ile	Missense	3/13	-
14-105419234-T-A	AHNAK2	c.2554A>T	p.Met852Leu	Missense	7/7	-
14-105419234-T-C	AHNAK2	c.2554A>G	p.Met852Val	Missense	7/7	-
19-15905505-T-C	OR10H5	c.647T>C	p.Leu216Pro	Missense	1/1	-
1-226076669-C-T	LEFTY1	c.98G>A	p.Arg33Gln	Missense	1/4	-
4-90857479-G-C	MMRN1	c.2648G>C	p.Gly883Ala	Missense	6/8	-
4-90857479-G-A	MMRN1	c.2648G>A	p.Gly883Asp	Missense	6/8	-
1-16890602-T-C	NBPF1	c.3481A>G	-	missense_variant	28/28	-
11-126075608-G-A	RPUSD4	c.626C>T	p.Ala209Val	Missense	4/7	-
X-140994017-T-C	MAGEC1	c.827T>C	p.Phe276Ser	Missense	4/4	-
2-241631717-T-C	AQP12A	c.350T>C	p.Met117Thr	Missense	2/4	-
19-51919286-G-A	SIGLEC10	c.890C>T	p.Ser297Leu	Missense	5/11	-
19-54744210-A-G	LILRA6	c.1198T>C	p.Tyr400His	Missense	6/8	-
10-29581601-G-T	LYZL1	c.431G>T	p.Cys144Phe	Missense	5/5	-
10-29581601-G-A	LYZL1	c.431G>A	p.Cys144Tyr	Missense	5/5	-
17-4693342-C-A	GLTPD2	c.627C>A	p.Asp209Glu	Missense	4/4	-
1-153233510-A-G	LOR	c.85A>G	p.Ser29Gly	Missense	2/2	-
6-135751024-G-A	AHI1	c.2488C>T	p.Arg830Trp	Missense	17/28	-
2-190571776-A-G	ANKAR	c.2023A>G	p.Ile675Val	Missense	9/23	-
17-38975328-G-C	KRT10	c.1459C>G	p.His487Asp	Missense	7/8	-
17-38975328-G-A	KRT10	c.1459C>T	p.His487Tyr	Missense	7/8	-
X-20252889-A-C	RPS6KA3	c.113T>G	p.Ile38Ser	Missense	2/22	-
2-102851671-C-T	IL1RL2	c.1612C>T	p.Pro538Ser	Missense	11/12	-
8-144809721-G-A	FAM83H	c.1910C>T	p.Pro637Leu	Missense	5/5	-
19-51523074-A-G	KLK10	c.-13+2T>C	-	splice_donor_variant	-	1/5
11-18729488-C-T	IGSF22	c.3143G>A	p.Arg1048Gln	Missense	20/23	-
1-25747156-T-C	RHCE	c.122A>G	p.Gln41Arg	Missense	1/10	-
19-5867177-G-A	FUT5	c.560C>T	p.Pro187Leu	Missense	2/2	-
20-62194510-T-C	HELZ2	c.5665A>G	p.Thr1889Ala	Missense	9/20	-
22-19511925-G-A	CLDN5	c.109C>T	p.Gln37*	Nonsense	2/2	-
11-7717233-G-A	OVCH2	c.1166C>T	p.Pro389Leu	Missense	11/16	-
22-19511925-G-C	CLDN5	c.109C>G	p.Gln37Glu	Missense	2/2	-
7-72992858-C-T	TBL2	c.22G>A	p.Glu8Lys	Missense	1/7	-
7-72992858-C-G	TBL2	c.22G>C	p.Glu8Gln	Missense	1/7	-
14-64519709-A-T	SYNE2	c.9078A>T	p.Glu3026Asp	Missense	48/116	-
9-95640171-C-T	ZNF484	c.-31+1G>A	-	splice_donor_variant	-	1/4
15-34646769-G-A	NUTM1	c.1114G>A	p.Val372Ile	Missense	6/8	-
7-33028165-G-C	FKBP9	c.940G>C	p.Val314Leu	Missense	6/10	-
7-33028165-G-A	FKBP9	c.940G>A	p.Val314Met	Missense	6/10	-
7-100646824-C-A	MUC12	c.12980C>A	p.Thr4327Asn	Missense	2/12	-
7-100646824-C-T	MUC12	c.12980C>T	p.Thr4327Ile	Missense	2/12	-
12-112037000-G-C	ATXN2	c.-162C>G	-	5_prime_UTR_variant	1/25	-
3-195505960-G-C	MUC4	c.12491C>G	p.Thr4164Ser	Missense	2/25	-
15-33261185-G-A	FMN1	c.2048C>T	p.Pro683Leu	Missense	4/17	-
6-37614063-C-G	MDGA1	c.2135G>C	p.Arg712Pro	Missense	11/17	-
3-119343970-G-C	PLA1A	c.965-1G>C	-	IntronicSNV	-	8/10
13-38211702-T-G	TRPC4	c.2287A>C	p.Lys763Gln	Missense	11/11	-
19-57088558-A-G	ZNF470	c.761A>G	p.Lys254Arg	Missense	6/6	-
17-30348768-C-T	LRRC37B	c.603C>T	p.Ser201Ser	Synonymous	1/12	-
19-39229089-A-G	CAPN12	c.859T>C	p.Cys287Arg	Missense	7/21	-
16-4383398-G-T	GLIS2	c.223G>T	p.Ala75Ser	Missense	2/6	-
11-47711820-A-G	AGBL2	c.1439T>C	p.Leu480Pro	Missense	10/19	-
9-2191388-G-A	SMARCA2	c.4717G>A	p.Asp1573Asn	Missense	33/34	-
9-2191388-G-C	SMARCA2	c.4717G>C	p.Asp1573His	Missense	33/34	-
15-79058951-T-A	ADAMTS7	c.3302A>T	p.His1101Leu	Missense	19/24	-
X-135956408-A-G	RBMX	c.1069T>C	p.Tyr357His	Missense	9/9	-
21-47552201-C-G	COL6A2	c.2795C>G	p.Pro932Arg	Missense	28/28	-
15-79058951-T-C	ADAMTS7	c.3302A>G	p.His1101Arg	Missense	19/24	-
19-58864480-G-C	A1BG	c.154C>G	p.His52Asp	Missense	3/8	-
6-137245567-C-T	SLC35D3	c.984C>T	p.Asp328Asp	Synonymous	2/2	-
6-137245567-C-A	SLC35D3	c.984C>A	p.Asp328Glu	Missense	2/2	-
6-137245567-C-G	SLC35D3	c.984C>G	p.Asp328Glu	Missense	2/2	-
X-23933912-G-A	CXorf58	c.311+1G>A	-	IntronicSNV	-	4/8
3-42732452-C-T	KLHL40	c.1709C>T	p.Thr570Met	Missense	5/6	-
6-149068627-A-T	UST	c.61A>T	p.Met21Leu	Missense	1/8	-
5-178507004-A-G	ZNF354C	c.1571A>G	p.Tyr524Cys	Missense	5/5	-
16-89348038-G-T	ANKRD11	c.4912C>A	p.Pro1638Thr	Missense	9/13	-
22-35789508-C-T	HMOX1	c.784C>T	p.Arg262Cys	Missense	5/5	-
7-100677714-C-T	MUC17	c.3017C>T	p.Thr1006Ile	Missense	3/13	-
1-248263471-G-A	OR2L13	c.794G>A	p.Arg265His	Missense	3/3	-
17-31618997-C-A	ASIC2	c.556-179912G>T	-	IntronicSNV	-	1/9
9-43627428-G-A	SPATA31A6	c.1259C>T	p.Pro420Leu	Missense	4/4	-
19-7056571-G-T	MBD3L3	c.389C>A	p.Ala130Asp	Missense	2/2	-
3-186395437-G-A	HRG	c.1343G>A	p.Arg448His	Missense	7/7	-
11-68377475-A-G	PPP6R3	c.2314A>G	p.Ser772Gly	Missense	22/23	-
12-11461706-G-T	PRB4	c.211C>A	p.Pro71Thr	Missense	3/4	-
12-11461706-G-C	PRB4	c.211C>G	p.Pro71Ala	Missense	3/4	-
15-75641682-T-C	NEIL1	c.434+2T>C	-	IntronicSNV	-	2/9
10-5138747-A-G	AKR1C3	c.230A>G	p.Glu77Gly	Missense	2/9	-
1-235866186-C-T	LYST	c.10235G>A	p.Arg3412His	Missense	45/53	-
3-195507578-C-A	MUC4	c.10873G>T	p.Ala3625Ser	Missense	2/25	-
17-39254257-G-C	KRTAP4-8	c.80C>G	p.Pro27Arg	Missense	1/1	-
7-75051368-T-C	POM121C	c.2167A>G	p.Thr723Ala	Missense	13/15	-
17-39254257-G-T	KRTAP4-8	c.80C>A	p.Pro27His	Missense	1/1	-
17-39503163-G-A	KRT33A	c.809C>T	p.Ala270Val	Missense	5/7	-
4-10089539-T-C	WDR1	c.323A>G	p.His108Arg	Missense	5/12	-
1-248084464-T-C	OR2T8	c.145T>C	p.Trp49Arg	Missense	1/1	-
1-248084464-T-G	OR2T8	c.145T>G	p.Trp49Gly	Missense	1/1	-
1-228504670-C-T	OBSCN	c.13546C>T	p.Arg4516Trp	Missense	51/81	-
18-34740290-A-C	KIAA1328	c.1360A>C	p.Lys454Gln	Missense	8/10	-
19-23543095-T-C	ZNF91	c.2686A>G	p.Thr896Ala	Missense	4/4	-
21-43531325-C-T	UMODL1	c.1899+94C>T	-	IntronicSNV	-	11/22
19-53086598-G-A	ZNF701	c.1286G>A	p.Arg429His	Missense	4/4	-
1-248084464-T-A	OR2T8	c.145T>A	p.Trp49Arg	Missense	1/1	-
5-23527565-A-G	PRDM9	c.2368A>G	p.Asn790Asp	Missense	11/11	-
2-75937801-C-T	GCFC2	c.181G>A	p.Val61Ile	Missense	1/17	-
11-551741-C-T	LRRC56	c.887C>T	p.Ser296Phe	Missense	10/14	-
22-25294369-G-A	SGSM1	c.2618G>A	p.Arg873Lys	Missense	20/26	-
19-10102492-G-A	COL5A3	c.1919C>T	p.Pro640Leu	Missense	23/67	-
11-551741-C-A	LRRC56	c.887C>A	p.Ser296Tyr	Missense	10/14	-
7-1097555-G-A	C7orf50	c.130-47776C>T	-	IntronicSNV	-	2/4
7-100187349-T-A	FBXO24	c.3+83T>A	-	IntronicSNV	-	1/9
19-10102492-G-T	COL5A3	c.1919C>A	p.Pro640Gln	Missense	23/67	-
3-186461524-C-T	KNG1	c.*1404C>T	-	IntergenicSNV	10/10	-
3-186461524-C-A	KNG1	c.*1404C>A	-	IntergenicSNV	10/10	-
4-124323155-G-A	SPRY1	c.409G>A	p.Gly137Arg	Missense	3/3	-
4-175414330-C-T	HPGD	c.634G>A	p.Asp212Asn	Missense	6/7	-
14-25076906-C-A	GZMH	c.251G>T	p.Arg84Leu	Missense	3/5	-
21-11049621-G-A	BAGE2	c.280C>T	p.Arg94*	Nonsense	4/10	-
19-9578370-C-T	ZNF560	c.1253G>A	p.Gly418Asp	Missense	10/10	-
20-58455447-A-T	SYCP2	c.2852T>A	p.Ile951Asn	Missense	31/45	-
15-24921115-C-T	NPAP1	c.101C>T	p.Pro34Leu	Missense	1/1	-
11-62543326-C-T	TAF6L	c.71C>T	p.Thr24Met	Missense	2/11	-
17-21319868-G-T	KCNJ12	c.1214G>T	p.Ser405Ile	Missense	3/3	-
5-109756435-C-G	TMEM232	c.1820G>C	p.Arg607Pro	Missense	14/14	-
3-52538507-C-G	STAB1	c.1181C>G	p.Ala394Gly	Missense	11/69	-
3-52538507-C-T	STAB1	c.1181C>T	p.Ala394Val	Missense	11/69	-
14-105416959-A-T	AHNAK2	c.4829T>A	p.Val1610Glu	Missense	7/7	-
10-51827934-G-A	WASHC2A	c.73G>A	p.Val25Met	Missense	2/31	-
3-125648343-G-T	ALG1L	c.416C>A	p.Ser139*	Nonsense	6/6	-
3-125648343-G-A	ALG1L	c.416C>T	p.Ser139Leu	Missense	6/6	-
4-155407595-C-A	DCHS2	c.2052+2861G>T	-	IntronicSNV	-	1/7
16-11362819-G-A	TNP2	c.301C>T	p.Arg101Cys	Missense	1/2	-
1-152785170-G-A	LCE1B	c.248G>A	p.Arg83His	Missense	1/1	-
5-140559596-T-G	PCDHB8	c.1981T>G	p.Leu661Val	Missense	1/1	-
5-140559596-T-C	PCDHB8	c.1981T>C	p.Leu661Leu	Synonymous	1/1	-
9-35841510-C-T	TMEM8B	c.1-926C>T	-	IntronicSNV	-	1/10
7-128843396-G-A	SMO	c.503G>A	p.Arg168His	Missense	2/12	-
19-23557502-G-A	ZNF91	c.95C>T	p.Thr32Ile	Missense	2/4	-
14-105414343-C-G	AHNAK2	c.7445G>C	p.Arg2482Thr	Missense	7/7	-
3-46620827-A-G	TDGF1	c.194A>G	p.Gln65Arg	Missense	3/6	-
22-24574137-C-G	CABIN1	c.6636C>G	p.Asp2212Glu	Missense	37/37	-
13-24895745-A-G	C1QTNF9	c.841A>G	p.Met281Val	Missense	4/4	-
22-24574137-C-A	CABIN1	c.6636C>A	p.Asp2212Glu	Missense	37/37	-
22-24574137-C-T	CABIN1	c.6636C>T	p.Asp2212Asp	Synonymous	37/37	-
13-24465537-C-G	C1QTNF9B	c.893G>C	p.Gly298Ala	Missense	3/3	-
X-153418514-G-C	OPN1LW	c.511G>C	p.Val171Leu	Missense	3/6	-
13-24465537-C-T	C1QTNF9B	c.893G>A	p.Gly298Glu	Missense	3/3	-
17-81009636-T-G	B3GNTL1	c.37A>C	p.Ser13Arg	Missense	1/13	-
19-55107308-G-C	LILRA1	c.866G>C	p.Arg289Pro	Missense	6/10	-
16-11023415-G-A	DEXI	c.*151C>T	-	splice_region_variant,3_prime_UTR_variant	2/2	-
21-47552201-C-T	COL6A2	c.2795C>T	p.Pro932Leu	Missense	28/28	-
21-15593485-C-A	RBM11	c.327C>A	p.Asn109Lys	Missense	3/5	-
6-170627695-A-G	FAM120B	c.1217A>G	p.Asp406Gly	Missense	2/11	-
12-112478316-G-A	NAA25	c.2507C>T	p.Thr836Ile	Missense	21/24	-
14-64580075-T-G	SYNE2	c.12626T>G	p.Ile4209Ser	Missense	66/116	-
14-64580075-T-C	SYNE2	c.12626T>C	p.Ile4209Thr	Missense	66/116	-
4-153874666-G-A	FHDC1	c.514G>A	p.Ala172Thr	Missense	2/11	-
7-30649268-C-T	GARS	c.803C>T	p.Thr268Ile	Missense	7/17	-
13-23907724-C-T	SACS	c.10291G>A	p.Val3431Ile	Missense	10/10	-
1-16730308-G-T	SPATA21	c.915C>A	p.His305Gln	Missense	10/13	-
1-16730308-G-A	SPATA21	c.915C>T	p.His305His	Synonymous	10/13	-
5-112888882-A-T	YTHDC2	c.1693A>T	p.Thr565Ser	Missense	13/30	-
7-100678740-T-A	MUC17	c.4043T>A	p.Leu1348Gln	Missense	3/13	-
7-100678740-T-C	MUC17	c.4043T>C	p.Leu1348Pro	Missense	3/13	-
1-47078762-T-C	MOB3C	c.388A>G	p.Met130Val	Missense	2/4	-
1-159890163-T-C	TAGLN2	c.137A>G	p.Gln46Arg	Missense	2/5	-
1-159890163-T-A	TAGLN2	c.137A>T	p.Gln46Leu	Missense	2/5	-
12-8376068-T-C	FAM90A1	c.409A>G	p.Thr137Ala	Missense	6/7	-
16-2140294-C-T	PKD1	c.12433G>A	p.Val4145Ile	Missense	45/46	-
15-79058013-C-T	ADAMTS7	c.4240G>A	p.Gly1414Ser	Missense	19/24	-
2-97527061-A-G	SEMA4C	c.1804T>C	p.Ser602Pro	Missense	15/15	-
2-97527061-A-T	SEMA4C	c.1804T>A	p.Ser602Thr	Missense	15/15	-
15-79058013-C-G	ADAMTS7	c.4240G>C	p.Gly1414Arg	Missense	19/24	-
14-75330306-A-G	PROX2	c.232T>C	p.Ser78Pro	Missense	1/3	-
17-42476576-G-A	GPATCH8	c.2869C>T	p.Arg957Trp	Missense	8/8	-
4-122250654-G-A	QRFPR	c.1111C>T	p.Arg371Trp	Missense	6/6	-
X-8138165-C-G	VCX2	c.328G>C	p.Val110Leu	Missense	3/3	-
2-225244352-G-A	FAM124B	c.*612C>T	-	3_prime_UTR_variant	3/3	-
2-112620003-T-C	ANAPC1	c.1225A>G	p.Ile409Val	Missense	10/48	-
11-65385456-C-G	PCNX3	c.623C>G	p.Ser208Cys	Missense	6/35	-
6-39552754-T-C	KIF6	c.997A>G	p.Ile333Val	Missense	9/23	-
11-65385456-C-T	PCNX3	c.623C>T	p.Ser208Phe	Missense	6/35	-
9-114423924-G-A	GNG10	c.10G>A	p.Gly4Arg	Missense	1/3	-
9-114423924-G-C	GNG10	c.10G>C	p.Gly4Arg	Missense	1/3	-
8-442580-G-T	TDRP	c.377C>A	p.Thr126Asn	Missense	4/4	-
8-442580-G-A	TDRP	c.377C>T	p.Thr126Ile	Missense	4/4	-
3-98073065-A-C	OR5K4	c.368A>C	p.Tyr123Ser	Missense	1/1	-
19-52888049-C-A	ZNF880	c.1216C>A	p.Gln406Lys	Missense	4/4	-
11-77920822-C-G	USP35	c.1921C>G	p.Arg641Gly	Missense	10/11	-
11-77920822-C-T	USP35	c.1921C>T	p.Arg641Trp	Missense	10/11	-
3-44488293-T-C	ZNF445	c.2870A>G	p.Glu957Gly	Missense	8/8	-
5-176759170-C-A	LMAN2	c.988G>T	p.Ala330Ser	Missense	8/8	-
16-1537455-T-C	PTX4	c.643A>G	p.Arg215Gly	Missense	2/3	-
11-51516036-G-A	OR4C46	c.755G>A	p.Cys252Tyr	Missense	1/1	-
3-105264176-G-T	ALCAM	c.1101G>T	p.Met367Ile	Missense	9/16	-
19-39876646-A-G	PAF1	c.1581T>C	p.Asp527Asp	Synonymous	14/14	-
22-44063042-C-T	EFCAB6	c.1925G>A	p.Arg642Gln	Missense	17/32	-
10-88635779-C-A	BMPR1A	c.4C>A	p.Pro2Thr	Missense	3/13	-
21-43531264-C-A	UMODL1	c.1899+33C>A	-	IntronicSNV	-	11/22
21-43531264-C-G	UMODL1	c.1899+33C>G	-	IntronicSNV	-	11/22
5-96506959-T-C	RIOK2	c.730A>G	p.Met244Val	Missense	6/10	-
5-154395470-A-G	KIF4B	c.2051A>G	p.Tyr684Cys	Missense	1/1	-
1-16895586-T-C	NBPF1	c.2596A>G	p.Met866Val	Missense	23/28	-
14-70924566-C-T	ADAM21	c.350C>T	p.Ala117Val	Missense	2/2	-
18-712568-G-C	ENOSF1	c.20C>G	p.Ser7Cys	Missense	1/16	-
14-70924566-C-G	ADAM21	c.350C>G	p.Ala117Gly	Missense	2/2	-
11-7847129-G-C	OR5P3	c.391C>G	p.Leu131Val	Missense	1/1	-
1-3679886-C-T	CCDC27	c.1169C>T	p.Pro390Leu	Missense	7/12	-
1-94486794-A-G	ABCA4	c.5018+2T>C	-	IntronicSNV	-	35/49
1-94486794-A-T	ABCA4	c.5018+2T>A	-	IntronicSNV	-	35/49
13-60566644-T-C	DIAPH3	c.1088A>G	p.Asn363Ser	Missense	10/28	-
14-33015531-A-G	AKAP6	c.1672A>G	p.Asn558Asp	Missense	4/14	-
9-21207005-C-G	IFNA10	c.92G>C	p.Ser31Thr	Missense	1/1	-
8-59571856-A-C	NSMAF	c.59+276T>G	-	IntronicSNV	-	1/30
19-10671912-T-G	KRI1	c.536A>C	p.Asp179Ala	Missense	7/19	-
5-134345125-A-G	CATSPER3	c.881A>G	p.Lys294Arg	Missense	6/8	-
10-46999289-C-T	GPRIN2	c.409C>T	p.Arg137Trp	Missense	3/3	-
1-60104049-T-G	FGGY	c.1221+2T>G	-	IntronicSNV	-	11/16
6-149068627-A-G	UST	c.61A>G	p.Met21Val	Missense	1/8	-
6-149068627-A-C	UST	c.61A>C	p.Met21Leu	Missense	1/8	-
11-71507205-C-A	FAM86C1	c.302C>A	p.Pro101Gln	Missense	3/4	-
16-427699-C-T	TMEM8A	c.271G>A	p.Ala91Thr	Missense	2/13	-
16-89348038-G-C	ANKRD11	c.4912C>G	p.Pro1638Ala	Missense	9/13	-
16-89348038-G-A	ANKRD11	c.4912C>T	p.Pro1638Ser	Missense	9/13	-
17-7637938-A-G	DNAH2	c.890A>G	p.Lys297Arg	Missense	7/86	-
11-556531-C-G	LMNTD2	c.1034G>C	p.Cys345Ser	Missense	9/14	-
3-39228676-T-G	XIRP1	c.2261A>C	p.Gln754Pro	Missense	2/2	-
12-42499811-G-A	GXYLT1	c.673C>T	p.Pro225Ser	Missense	5/8	-
6-143784092-A-G	PEX3	c.245A>G	p.Gln82Arg	Missense	3/12	-
19-374338-A-C	THEG	c.392T>G	p.Leu131Arg	Missense	2/8	-
7-151791365-C-T	GALNT11	c.53C>T	p.Ala18Val	Missense	2/12	-
5-26885797-T-C	CDH9	c.1808A>G	p.Glu603Gly	Missense	11/12	-
1-152770613-T-G	LCE1D	c.343T>G	-	Missense	2/2	-
20-52198138-T-G	ZNF217	c.1228A>C	p.Met410Leu	Missense	1/5	-
7-150325454-T-C	GIMAP6	c.232A>G	p.Thr78Ala	Missense	3/3	-
14-105416959-A-G	AHNAK2	c.4829T>C	p.Val1610Ala	Missense	7/7	-
5-140476653-G-A	PCDHB2	c.2279G>A	p.Gly760Asp	Missense	1/1	-
17-39619186-G-C	KRT32	c.1113C>G	p.Asp371Glu	Missense	6/7	-
1-6181605-C-A	CHD5	c.4728G>T	p.Met1576Ile	Missense	32/42	-
4-2195009-G-A	POLN	c.943C>T	p.Pro315Ser	Missense	7/26	-
X-70466490-G-C	ZMYM3	c.2367C>G	p.Asn789Lys	Missense	14/25	-
5-140869229-G-A	PCDHGC3	c.2431-5145G>A	-	IntronicSNV	-	1/3
X-49179711-A-T	GAGE12J	c.39A>T	p.Arg13Ser	Missense	2/5	-
X-8138165-C-T	VCX2	c.328G>A	p.Val110Met	Missense	3/3	-
3-15614707-C-T	HACL1	c.952G>A	p.Ala318Thr	Missense	11/17	-
20-44640275-G-A	MMP9	c.886G>A	p.Gly296Ser	Missense	6/13	-
16-27761090-G-T	KIAA0556	c.2809G>T	p.Asp937Tyr	Missense	16/28	-
16-27761090-G-A	KIAA0556	c.2809G>A	p.Asp937Asn	Missense	16/28	-
22-37964429-T-C	CDC42EP1	c.778T>C	p.Ser260Pro	Missense	3/3	-
1-156206158-C-T	PMF1-BGLAP	c.387C>T	p.Gly129Gly	Synonymous	4/7	-
11-7847129-G-A	OR5P3	c.391C>T	p.Leu131Phe	Missense	1/1	-
10-97192285-C-T	SORBS1	c.221G>A	p.Arg74Gln	Missense	4/31	-
10-97192285-C-G	SORBS1	c.221G>C	p.Arg74Pro	Missense	4/31	-
15-62989946-C-T	TLN2	c.1352C>T	p.Ala451Val	Missense	12/56	-
7-102246311-T-C	RASA4	c.422A>G	p.Glu141Gly	Missense	5/21	-
8-17815082-T-C	PCM1	c.1838T>C	p.Ile613Thr	Missense	13/39	-
15-102264476-C-A	TARSL2	c.115G>T	p.Ala39Ser	Missense	1/19	-
15-102264476-C-T	TARSL2	c.115G>A	p.Ala39Thr	Missense	1/19	-
14-24799164-G-A	ADCY4	c.1119C>T	p.Ser373Ser	Synonymous	8/25	-
7-105658381-C-T	CDHR3	c.1516C>T	p.Leu506Phe	Missense	12/19	-
1-145293425-C-A	NBPF10	c.20C>A	p.Pro7His	Missense	1/86	-
4-88537232-A-G	DSPP	c.3418A>G	p.Asn1140Asp	Missense	5/5	-
14-102898363-C-T	TECPR2	c.1315C>T	p.Pro439Ser	Missense	8/20	-
17-5461726-C-T	NLRP1	c.2290G>A	p.Val764Met	Missense	4/17	-
11-1651140-T-C	KRTAP5-5	c.70T>C	p.Cys24Arg	Missense	1/1	-
10-25312168-C-T	THNSL1	c.16C>T	p.Arg6*	Nonsense	3/3	-
2-240964714-G-C	NDUFA10	c.5C>G	p.Ala2Gly	Missense	1/10	-
1-145293425-C-G	NBPF10	c.20C>G	p.Pro7Arg	Missense	1/86	-
5-825286-G-A	ZDHHC11	c.1016C>T	p.Thr339Met	Missense	8/13	-
7-22532260-A-G	STEAP1B	c.686T>C	p.Ile229Thr	Missense	4/5	-
5-825286-G-T	ZDHHC11	c.1016C>A	p.Thr339Lys	Missense	8/13	-
12-40716238-C-T	LRRK2	c.5435C>T	p.Ala1812Val	Missense	37/51	-
8-7308386-T-G	SPAG11B	c.*15A>C	-	3-UTRSNV	4/4	-
8-7308386-T-A	SPAG11B	c.*15A>T	-	3-UTRSNV	4/4	-
11-49076898-T-G	TRIM64C	c.823A>C	p.Ile275Leu	Missense	5/6	-
12-48538908-G-A	PFKM	c.2087G>A	p.Arg696His	Missense	21/23	-
11-49076898-T-C	TRIM64C	c.823A>G	p.Ile275Val	Missense	5/6	-
11-12316389-A-C	MICALCL	c.1411A>C	p.Thr471Pro	Missense	3/9	-
5-32074573-G-A	PDZD2	c.3361G>A	p.Val1121Met	Missense	18/25	-
1-12907284-T-C	HNRNPCL1	c.859A>G	p.Thr287Ala	Missense	2/2	-
11-73105341-C-T	RELT	c.767C>T	p.Thr256Met	Missense	8/11	-
3-51990119-A-C	GPR62	c.451A>C	p.Thr151Pro	Missense	1/1	-
3-51990119-A-G	GPR62	c.451A>G	p.Thr151Ala	Missense	1/1	-
7-82784588-C-T	PCLO	c.1369G>A	p.Gly457Arg	Missense	2/20	-
12-11091206-G-C	TAS2R14	c.601C>G	p.Leu201Val	Missense	1/1	-
5-140475980-G-A	PCDHB2	c.1606G>A	p.Ala536Thr	Missense	1/1	-
5-140475980-G-T	PCDHB2	c.1606G>T	p.Ala536Ser	Missense	1/1	-
14-105408811-A-G	AHNAK2	c.12977T>C	p.Leu4326Pro	Missense	7/7	-
11-55889895-C-T	OR8H3	c.47C>T	p.Thr16Met	Missense	1/1	-
7-48314151-C-G	ABCA13	c.4888C>G	p.Leu1630Val	Missense	17/62	-
X-135956462-G-C	RBMX	c.1015C>G	p.Arg339Gly	Missense	9/9	-
7-100677944-T-C	MUC17	c.3247T>C	p.Ser1083Pro	Missense	3/13	-
1-13183249-C-A	HNRNPCL2	c.624G>T	p.Gln208His	Missense	2/2	-
1-17292975-G-T	CROCC	c.4769G>T	p.Arg1590Leu	Missense	30/37	-
19-43680147-C-T	PSG5	c.584G>A	p.Arg195Gln	Missense	3/6	-
11-33308469-G-A	HIPK3	c.509G>A	p.Gly170Glu	Missense	2/17	-
19-43680147-C-G	PSG5	c.584G>C	p.Arg195Pro	Missense	3/6	-
2-159672251-C-T	DAPL1	c.242C>T	p.Ala81Val	Missense	4/4	-
17-260299-G-A	C17orf97	c.166G>A	p.Glu56Lys	Missense	1/2	-
10-50669459-C-G	ERCC6	c.3922G>C	p.Val1308Leu	Missense	19/21	-
11-78369281-C-T	TENM4	c.8132G>A	p.Arg2711Gln	Missense	34/34	-
17-20370767-G-C	LGALS9B	c.17C>G	p.Ser6Cys	Missense	1/11	-
16-336916-C-A	PDIA2	c.1504C>A	p.Pro502Thr	Missense	10/11	-
16-52473564-G-A	TOX3	c.1304C>T	p.Ser435Leu	Missense	7/7	-
1-25633210-G-A	RHD	c.1063G>A	p.Gly355Ser	Missense	7/10	-
17-20370767-G-A	LGALS9B	c.17C>T	p.Ser6Phe	Missense	1/11	-
21-46057417-A-C	TSPEAR	c.83-69528T>G	-	IntronicSNV	-	1/11
21-46057417-A-T	TSPEAR	c.83-69528T>A	-	IntronicSNV	-	1/11
11-34988311-C-T	PDHX	c.766C>T	p.Pro256Ser	Missense	6/11	-
12-113623241-C-G	DDX54	c.16G>C	p.Gly6Arg	Missense	1/20	-
7-128415071-C-T	OPN1SW	c.490G>A	p.Val164Ile	Missense	2/5	-
1-169510348-T-G	F5	c.3980A>C	p.His1327Pro	Missense	13/25	-
4-184585165-G-C	TRAPPC11	c.145G>C	p.Val49Leu	Missense	2/30	-
8-98656966-G-T	MTDH	c.232G>T	p.Ala78Ser	Missense	1/12	-
3-195509573-A-C	MUC4	c.8878T>G	p.Ser2960Ala	Missense	2/25	-
17-4806052-C-A	CHRNE	c.53G>T	p.Gly18Val	Missense	2/12	-
21-34924550-G-T	SON	c.3013G>T	p.Ala1005Ser	Missense	3/12	-
16-89883007-A-C	FANCA	c.17T>G	p.Val6Gly	Missense	1/43	-
13-48985639-C-A	RB1	c.1695+30060C>A	-	IntronicSNV	-	17/26
X-135956506-C-G	RBMX	c.971G>C	p.Arg324Pro	Missense	9/9	-
8-11990314-G-C	USP17L7	c.1205C>G	p.Pro402Arg	Missense	1/1	-
3-122103141-C-T	FAM162A	c.29C>T	p.Ala10Val	Missense	1/5	-
19-38894102-G-A	FAM98C	c.190G>A	p.Ala64Thr	Missense	2/8	-
19-48602995-G-A	PLA2G4C	c.410C>T	p.Ala137Val	Missense	5/17	-
13-19753484-C-G	TUBA3C	c.223G>C	p.Val75Leu	Missense	2/5	-
19-40392631-G-A	FCGBP	c.7873C>T	p.Pro2625Ser	Missense	16/36	-
16-4391463-C-T	CORO7-PAM16	c.2900G>A	p.Arg967Gln	Missense	29/31	-
5-82816190-A-G	VCAN	c.2065A>G	p.Thr689Ala	Missense	7/15	-
9-125895238-C-T	STRBP	c.1741G>A	p.Val581Ile	Missense	17/19	-
17-39305820-C-T	KRTAP4-5	c.200G>A	p.Arg67His	Missense	1/1	-
6-74496984-A-G	CD109	c.2365A>G	p.Lys789Glu	Missense	21/33	-
15-41476551-C-T	EXD1	c.1123G>A	p.Gly375Arg	Missense	10/10	-
11-94326720-A-G	PIWIL4	c.1063A>G	p.Met355Val	Missense	9/20	-
6-35285719-A-C	DEF6	c.859A>C	p.Asn287His	Missense	6/11	-
3-195507086-C-G	MUC4	c.11365G>C	p.Asp3789His	Missense	2/25	-
3-52852106-C-T	ITIH4	c.2258G>A	p.Arg753His	Missense	20/24	-
3-52852106-C-A	ITIH4	c.2258G>T	p.Arg753Leu	Missense	20/24	-
3-53914093-G-A	ACTR8	c.167C>T	p.Thr56Ile	Missense	2/13	-
4-70080139-C-T	UGT2B11	c.302G>A	p.Arg101Gln	Missense	1/6	-
17-39305820-C-G	KRTAP4-5	c.200G>C	p.Arg67Pro	Missense	1/1	-
22-37964429-T-A	CDC42EP1	c.778T>A	p.Ser260Thr	Missense	3/3	-
4-9783969-T-C	DRD5	c.316T>C	p.Tyr106His	Missense	1/1	-
3-49723750-A-C	MST1	c.1012T>G	p.Cys338Gly	Missense	8/18	-
3-49723750-A-G	MST1	c.1012T>C	p.Cys338Arg	Missense	8/18	-
11-49208267-G-A	FOLH1	c.568C>T	p.Arg190Trp	Missense	5/19	-
22-50877170-C-A	PPP6R2	c.2026C>A	p.Pro676Thr	Missense	18/23	-
2-95691596-C-T	MAL	c.59C>T	p.Thr20Ile	Missense	1/4	-
18-76754584-G-A	SALL3	c.2593G>A	p.Val865Met	Missense	2/3	-
19-14590279-G-C	GIPC1	c.713C>G	p.Thr238Ser	Missense	7/9	-
12-15834192-T-A	EPS8	c.104A>T	p.His35Leu	Missense	3/21	-
12-15834192-T-C	EPS8	c.104A>G	p.His35Arg	Missense	3/21	-
3-52282458-C-G	PPM1M	c.903C>G	p.His301Gln	Missense	6/10	-
11-47270313-G-T	ACP2	c.28C>A	p.Arg10Arg	Synonymous	1/11	-
4-89352440-A-C	HERC6	c.2125A>C	p.Met709Leu	Missense	16/22	-
12-8329652-A-T	ZNF705A	c.376A>T	p.Thr126Ser	Missense	5/5	-
2-241621869-G-T	AQP12B	c.386C>A	p.Thr129Lys	Missense	1/3	-
12-8329652-A-G	ZNF705A	c.376A>G	p.Thr126Ala	Missense	5/5	-
2-241621869-G-C	AQP12B	c.386C>G	p.Thr129Arg	Missense	1/3	-
17-5461726-C-G	NLRP1	c.2290G>C	p.Val764Leu	Missense	4/17	-
21-11049596-C-T	BAGE2	c.305G>A	p.Cys102Tyr	Missense	4/10	-
1-89521841-G-C	GBP1	c.1226C>G	p.Ala409Gly	Missense	8/11	-
1-15794011-A-G	CELA2A	c.770A>G	p.Asn257Ser	Missense	7/8	-
4-107157623-G-A	TBCK	c.1085C>T	p.Thr362Met	Missense	12/24	-
9-34256375-G-T	KIF24	c.3230C>A	p.Thr1077Lys	Missense	11/13	-
9-35841510-C-G	TMEM8B	c.1-926C>G	-	IntronicSNV	-	1/10
6-20490428-G-T	E2F3	c.772G>T	p.Asp258Tyr	Missense	7/7	-
14-105415608-G-A	AHNAK2	c.6180C>T	p.His2060His	Synonymous	7/7	-
10-127462934-G-A	MMP21	c.163C>T	p.Arg55Trp	Missense	2/7	-
8-68421768-G-C	CPA6	c.518C>G	p.Ser173Cys	Missense	5/11	-
9-39171471-C-T	CNTNAP3	c.1228G>A	p.Gly410Ser	Missense	8/24	-
11-102201850-G-A	BIRC3	c.1202G>A	p.Arg401Lys	Missense	6/9	-
10-25312168-C-G	THNSL1	c.16C>G	p.Arg6Gly	Missense	3/3	-
11-124135662-A-G	OR8G5	c.940A>G	p.Thr314Ala	Missense	1/1	-
14-64518321-A-G	SYNE2	c.7690A>G	p.Ile2564Val	Missense	48/116	-
17-33491164-A-G	UNC45B	c.1130A>G	p.Lys377Arg	Missense	8/19	-
1-156646668-A-G	NES	c.389T>C	p.Val130Ala	Missense	1/4	-
8-74334931-A-C	STAU2	c.1537T>G	p.Leu513Val	Missense	14/15	-
8-74334931-A-T	STAU2	c.1537T>A	p.Leu513Ile	Missense	14/15	-
16-30976129-T-A	SETD1A	c.1066T>A	p.Ser356Thr	Missense	7/19	-
16-19726275-C-T	KNOP1	c.83G>A	p.Arg28Gln	Missense	2/5	-
16-72094221-C-A	HP	c.653C>A	p.Ala218Asp	Missense	7/7	-
16-11781741-G-C	TXNDC11	c.2125C>G	p.Leu709Val	Missense	10/12	-
11-1619396-C-T	KRTAP5-2	c.85G>A	p.Gly29Arg	Missense	1/1	-
3-12192749-G-T	SYN2	c.321G>T	p.Trp107Cys	Missense	2/14	-
3-12192749-G-A	SYN2	c.321G>A	p.Trp107*	Nonsense	2/14	-
17-33491164-A-T	UNC45B	c.1130A>T	p.Lys377Met	Missense	8/19	-
16-3708192-C-G	TRAP1	c.2053G>C	p.Asp685His	Missense	18/18	-
21-11049623-T-C	BAGE2	c.280-2A>G	-	IntronicSNV	-	3/9
22-38477275-G-A	SLC16A8	c.770C>T	p.Ala257Val	Missense	4/5	-
8-145154676-C-T	SHARPIN	c.589G>A	p.Val197Ile	Missense	4/9	-
12-8612294-G-A	CLEC6A	c.223G>A	p.Ala75Thr	Missense	3/6	-
12-66704276-A-C	HELB	c.1568A>C	p.Gln523Pro	Missense	4/14	-
2-130949511-C-T	TUBA3E	c.1246G>A	p.Gly416Arg	Missense	5/5	-
3-123440977-T-C	MYLK	c.1802A>G	p.His601Arg	Missense	13/34	-
10-70992634-C-A	HKDC1	c.341C>A	p.Thr114Lys	Missense	3/18	-
10-70992634-C-T	HKDC1	c.341C>T	p.Thr114Met	Missense	3/18	-
6-12290906-G-T	EDN1	c.44G>T	p.Cys15Phe	Missense	1/5	-
6-12290906-G-C	EDN1	c.44G>C	p.Cys15Ser	Missense	1/5	-
1-152185824-G-T	HRNR	c.8281C>A	p.Arg2761Arg	Synonymous	3/3	-
16-20396159-T-C	PDILT	c.217A>G	p.Lys73Glu	Missense	3/12	-
19-13869786-G-A	CCDC130	c.362G>A	p.Arg121His	Missense	7/10	-
11-1016795-C-G	MUC6	c.6006G>C	p.Gln2002His	Missense	31/33	-
21-10959771-A-G	TPTE	c.203T>C	p.Val68Ala	Missense	8/24	-
21-10959771-A-T	TPTE	c.203T>A	p.Val68Asp	Missense	8/24	-
17-16068340-C-T	NCOR1	c.571G>A	p.Glu191Lys	Missense	5/46	-
19-58084588-G-A	ZNF416	c.684C>T	p.His228His	Synonymous	4/4	-
19-58084588-G-C	ZNF416	c.684C>G	p.His228Gln	Missense	4/4	-
12-58201263-C-T	AVIL	c.1342G>A	p.Ala448Thr	Missense	12/19	-
22-31008867-T-C	TCN2	c.265T>C	p.Phe89Leu	Missense	3/9	-
17-74276788-T-C	QRICH2	c.3910A>G	p.Lys1304Glu	Missense	10/19	-
19-53116940-T-A	ZNF83	c.878A>T	p.Glu293Val	Missense	3/3	-
21-35514749-A-T	MRPS6	c.227A>T	p.Glu76Val	Missense	3/3	-
17-5037281-T-C	USP6	c.484T>C	p.Tyr162His	Missense	7/30	-
17-7220881-C-A	NEURL4	c.4217G>T	p.Arg1406Leu	Missense	27/29	-
17-9408381-C-T	STX8	c.422G>A	p.Arg141Gln	Missense	5/8	-
10-102824292-G-A	KAZALD1	c.707G>A	p.Gly236Asp	Missense	4/5	-
10-124345796-C-G	DMBT1	c.1420+1929C>G	-	IntronicSNV	-	14/39
1-161172233-C-T	NDUFS2	c.58C>T	p.Pro20Ser	Missense	2/15	-
1-161172233-C-A	NDUFS2	c.58C>A	p.Pro20Thr	Missense	2/15	-
1-161172233-C-G	NDUFS2	c.58C>G	p.Pro20Ala	Missense	2/15	-
1-16070763-C-T	TMEM82	c.445C>T	p.Arg149Cys	Missense	4/6	-
20-1592215-C-G	SIRPB1	c.76+8300G>C	-	IntronicSNV	-	1/5
1-213058700-T-G	FLVCR1	c.1158T>G	p.Ile386Met	Missense	5/10	-
7-27170145-T-A	HOXA4	c.208A>T	p.Thr70Ser	Missense	1/2	-
7-27170145-T-G	HOXA4	c.208A>C	p.Thr70Pro	Missense	1/2	-
17-57775279-C-T	PTRH2	c.61G>A	p.Val21Ile	Missense	2/2	-
19-14507976-G-A	ADGRE5	c.566G>A	p.Arg189His	Missense	6/20	-
7-135376041-G-A	SLC13A4	c.1351C>T	p.Pro451Ser	Missense	13/16	-
3-52420315-C-G	DNAH1	c.8765C>G	p.Ala2922Gly	Missense	55/78	-
2-46603764-T-A	EPAS1	c.1121T>A	p.Phe374Tyr	Missense	9/16	-
18-60021761-C-T	TNFRSF11A	c.421C>T	p.His141Tyr	Missense	4/9	-
7-42005678-G-A	GLI3	c.2993C>T	p.Pro998Leu	Missense	15/15	-
14-105417766-G-A	AHNAK2	c.4022C>T	p.Ser1341Phe	Missense	7/7	-
14-105417766-G-C	AHNAK2	c.4022C>G	p.Ser1341Cys	Missense	7/7	-
15-83718875-T-C	BTBD1	c.614A>G	p.Lys205Arg	Missense	3/7	-
3-52420315-C-T	DNAH1	c.8765C>T	p.Ala2922Val	Missense	55/78	-
3-98073065-A-T	OR5K4	c.368A>T	p.Tyr123Phe	Missense	1/1	-
14-105415608-G-C	AHNAK2	c.6180C>G	p.His2060Gln	Missense	7/7	-
11-102248406-A-G	BIRC2	c.1546A>G	p.Lys516Glu	Missense	7/9	-
2-208632817-G-A	FZD5	c.647C>T	p.Pro216Leu	Missense	2/2	-
11-51411918-C-T	OR4A5	c.478G>A	p.Val160Met	Missense	1/1	-
19-2222325-G-A	DOT1L	c.3157G>A	p.Ala1053Thr	Missense	24/28	-
9-21207000-C-A	IFNA10	c.97G>T	p.Gly33Cys	Missense	1/1	-
9-21207000-C-T	IFNA10	c.97G>A	p.Gly33Ser	Missense	1/1	-
11-551204-C-G	LRRC56	c.698C>G	p.Pro233Arg	Missense	9/14	-
11-551204-C-T	LRRC56	c.698C>T	p.Pro233Leu	Missense	9/14	-
9-133995629-A-T	AIF1L	c.373A>T	p.Met125Leu	Missense	6/6	-
7-27170145-T-C	HOXA4	c.208A>G	p.Thr70Ala	Missense	1/2	-
1-144952207-C-T	PDE4DIP	c.923G>A	p.Arg308Lys	Missense	7/7	-
3-195506750-G-C	MUC4	c.11701C>G	p.His3901Asp	Missense	2/25	-
2-208632817-G-T	FZD5	c.647C>A	p.Pro216His	Missense	2/2	-
11-51411918-C-A	OR4A5	c.478G>T	p.Val160Leu	Missense	1/1	-
1-67724382-A-C	IL23R	c.1461A>C	p.Gln487His	Missense	11/11	-
9-21207000-C-G	IFNA10	c.97G>C	p.Gly33Arg	Missense	1/1	-
1-1271853-G-C	DVL1	c.1682C>G	p.Pro561Arg	Missense	15/15	-
11-2424647-G-A	TSSC4	c.784G>A	p.Gly262Arg	Missense	3/3	-
10-76855417-C-T	DUSP13	c.*618G>A	-	3_prime_UTR_variant	7/8	-
10-50724316-C-T	ERCC6	c.1397+7763G>A	-	IntronicSNV	-	5/20
5-148206885-C-T	ADRB2	c.491C>T	p.Thr164Ile	Missense	1/1	-
19-21606719-C-A	ZNF493	c.874C>A	p.Leu292Ile	Missense	2/2	-
19-21606719-C-G	ZNF493	c.874C>G	p.Leu292Val	Missense	2/2	-
19-1619350-C-T	TCF3	c.1291G>A	p.Gly431Ser	Missense	15/19	-
22-24579157-G-T	SUSD2	c.209G>T	p.Gly70Val	Missense	2/15	-
15-83502065-A-C	WHAMM	c.2207A>C	p.His736Pro	Missense	10/10	-
15-83502065-A-G	WHAMM	c.2207A>G	p.His736Arg	Missense	10/10	-
11-49186274-G-A	FOLH1	c.1423C>T	p.His475Tyr	Missense	13/19	-
7-100677816-G-A	MUC17	c.3119G>A	p.Gly1040Glu	Missense	3/13	-
12-108956418-T-G	ISCU	c.-152T>G	-	5_prime_UTR_variant	1/6	-
12-108956418-T-A	ISCU	c.-152T>A	-	5_prime_UTR_variant	1/6	-
1-60104049-T-C	FGGY	c.1221+2T>C	-	IntronicSNV	-	11/16
7-144015437-C-T	OR2A1	c.220C>T	p.Arg74Cys	Missense	1/1	-
X-3248104-C-T	MXRA5	c.664G>A	p.Asp222Asn	Missense	4/7	-
12-129190266-G-C	TMEM132C	c.2753G>C	p.Arg918Pro	Missense	9/9	-
12-129190266-G-A	TMEM132C	c.2753G>A	p.Arg918Gln	Missense	9/9	-
17-37840860-G-A	PGAP3	c.422C>T	p.Ala141Val	Missense	3/8	-
17-37840860-G-C	PGAP3	c.422C>G	p.Ala141Gly	Missense	3/8	-
16-50338341-C-T	ADCY7	c.1439C>T	p.Ala480Val	Missense	11/26	-
11-48285770-C-G	OR4X1	c.358C>G	p.Arg120Gly	Missense	1/1	-
11-48285770-C-T	OR4X1	c.358C>T	p.Arg120Cys	Missense	1/1	-
3-195509402-T-G	MUC4	c.9049A>C	p.Ile3017Leu	Missense	2/25	-
3-195509402-T-C	MUC4	c.9049A>G	p.Ile3017Val	Missense	2/25	-
7-100677704-C-T	MUC17	c.3007C>T	p.Leu1003Phe	Missense	3/13	-
3-195509402-T-A	MUC4	c.9049A>T	p.Ile3017Leu	Missense	2/25	-
2-107049447-C-T	RGPD3	c.2413G>A	p.Ala805Thr	Missense	17/23	-
4-2044128-C-T	C4orf48	c.50C>T	p.Pro17Leu	Missense	2/4	-
2-185803445-G-A	ZNF804A	c.3322G>A	p.Ala1108Thr	Missense	4/4	-
7-100684593-G-A	MUC17	c.9896G>A	p.Ser3299Asn	Missense	3/13	-
4-70156313-T-A	UGT2B28	c.1094T>A	p.Leu365His	Missense	5/6	-
4-70156313-T-G	UGT2B28	c.1094T>G	p.Leu365Arg	Missense	5/6	-
20-2082732-C-T	STK35	c.205C>T	p.Arg69Trp	Missense	1/4	-
2-48026308-C-G	MSH6	c.1186C>G	p.Leu396Val	Missense	4/10	-
21-34923375-G-C	SON	c.1838G>C	p.Gly613Ala	Missense	3/12	-
20-2082732-C-G	STK35	c.205C>G	p.Arg69Gly	Missense	1/4	-
11-120340060-A-G	ARHGEF12	c.2918A>G	p.Tyr973Cys	Missense	30/41	-
6-43172498-G-T	CUL9	c.4352G>T	p.Ser1451Ile	Missense	22/41	-
1-42880442-G-A	RIMKLA	c.973G>A	p.Glu325Lys	Missense	5/5	-
17-7948239-C-T	ALOX15B	c.769C>T	p.Leu257Phe	Missense	6/13	-
22-24579049-G-A	SUSD2	c.101G>A	p.Arg34His	Missense	2/15	-
22-24579049-G-C	SUSD2	c.101G>C	p.Arg34Pro	Missense	2/15	-
14-105417396-C-G	AHNAK2	c.4392G>C	p.Glu1464Asp	Missense	7/7	-
2-118579599-A-G	DDX18	c.913A>G	p.Ile305Val	Missense	6/14	-
4-70079975-A-G	UGT2B11	c.466T>C	p.Cys156Arg	Missense	1/6	-
13-78477314-C-T	EDNRB	c.778G>A	p.Val260Ile	Missense	4/8	-
1-3679886-C-G	CCDC27	c.1169C>G	p.Pro390Arg	Missense	7/12	-
3-107491892-G-T	BBX	c.1324G>T	p.Ala442Ser	Missense	11/17	-
20-58455447-A-G	SYCP2	c.2852T>C	p.Ile951Thr	Missense	31/45	-
8-143996539-T-C	CYP11B2	c.518A>G	p.Lys173Arg	Missense	3/9	-
1-248458717-C-T	OR2T12	c.164G>A	p.Arg55Lys	Missense	1/1	-
1-248458717-C-A	OR2T12	c.164G>T	p.Arg55Met	Missense	1/1	-
16-72094221-C-T	HP	c.653C>T	p.Ala218Val	Missense	7/7	-
19-10385488-C-T	ICAM1	c.115C>T	p.Pro39Ser	Missense	2/7	-
11-123676777-C-T	OR6M1	c.281G>A	p.Gly94Asp	Missense	1/1	-
11-71507205-C-T	FAM86C1	c.302C>T	p.Pro101Leu	Missense	3/4	-
4-70079975-A-C	UGT2B11	c.466T>G	p.Cys156Gly	Missense	1/6	-
7-100677816-G-T	MUC17	c.3119G>T	p.Gly1040Val	Missense	3/13	-
1-16890602-T-G	NBPF1	c.3481A>C	-	missense_variant	28/28	-
X-153418514-G-A	OPN1LW	c.511G>A	p.Val171Met	Missense	3/6	-
8-144997783-G-A	PLEC	c.6395C>T	p.Ala2132Val	Missense	32/33	-
7-100677988-T-G	MUC17	c.3291T>G	p.Ser1097Arg	Missense	3/13	-
1-240371554-A-C	FMN2	c.3442A>C	p.Arg1148Arg	Synonymous	5/18	-
1-240371554-A-G	FMN2	c.3442A>G	p.Arg1148Gly	Missense	5/18	-
1-16914252-C-T	NBPF1	c.534G>A	p.Glu178Glu	Synonymous	10/28	-
X-49179711-A-G	GAGE12J	c.39A>G	p.Arg13Arg	Synonymous	2/5	-
19-38190686-A-G	ZNF607	c.346T>C	p.Cys116Arg	Missense	5/5	-
12-110221524-C-T	TRPV4	c.2518G>A	p.Glu840Lys	Missense	16/16	-
5-79950781-A-T	DHFR	c.1-473T>A	-	5-UTRSNV	1/6	-
17-15532147-G-A	TRIM16	c.1477C>T	p.Arg493Trp	Missense	9/9	-
5-79950781-A-G	DHFR	c.1-473T>C	-	5-UTRSNV	1/6	-
14-105418504-G-T	AHNAK2	c.3284C>A	p.Ala1095Asp	Missense	7/7	-
2-43902757-C-G	C1GALT1C1L	c.705G>C	p.Glu235Asp	Missense	1/1	-
18-712568-G-A	ENOSF1	c.20C>T	p.Ser7Phe	Missense	1/16	-
5-52229745-T-G	ITGA1	c.2883T>G	p.Ile961Met	Missense	23/29	-
2-70528033-C-T	FAM136A	c.167G>A	p.Arg56His	Missense	2/3	-
3-12183451-A-T	SYN2	c.106A>T	p.Met36Leu	Missense	1/14	-
3-12183451-A-C	SYN2	c.106A>C	p.Met36Leu	Missense	1/14	-
5-140869229-G-T	PCDHGC3	c.2431-5145G>T	-	IntronicSNV	-	1/3
10-43319197-G-A	BMS1	c.3421G>A	p.Val1141Ile	Missense	21/23	-
2-21232455-A-C	APOB	c.7285T>G	p.Ser2429Ala	Missense	26/29	-
11-33308469-G-T	HIPK3	c.509G>T	p.Gly170Val	Missense	2/17	-
2-21232455-A-T	APOB	c.7285T>A	p.Ser2429Thr	Missense	26/29	-
5-41909884-C-A	C5orf51	c.244C>A	p.Leu82Ile	Missense	3/6	-
16-3613436-C-T	NLRC3	c.1502G>A	p.Arg501Gln	Missense	5/21	-
17-295630-A-T	RFLNB	c.377T>A	-	missense_variant	1/2	-
17-30348768-C-G	LRRC37B	c.603C>G	p.Ser201Arg	Missense	1/12	-
17-30348768-C-A	LRRC37B	c.603C>A	p.Ser201Arg	Missense	1/12	-
14-105408827-A-C	AHNAK2	c.12961T>G	p.Leu4321Val	Missense	7/7	-
7-99817585-G-T	PVRIG	c.52G>T	p.Glu18*	Nonsense	2/6	-
18-21424991-C-A	LAMA3	c.3622C>A	p.Pro1208Thr	Missense	30/75	-
1-89521841-G-A	GBP1	c.1226C>T	p.Ala409Val	Missense	8/11	-
19-39914159-G-A	PLEKHG2	c.2465G>A	p.Arg822Gln	Missense	18/19	-
X-135956462-G-A	RBMX	c.1015C>T	p.Arg339Cys	Missense	9/9	-
6-20490428-G-A	E2F3	c.772G>A	p.Asp258Asn	Missense	7/7	-
7-72413423-C-A	POM121	c.2096C>A	p.Pro699Gln	Missense	14/16	-
11-18159668-T-C	MRGPRX3	c.919T>C	p.Trp307Arg	Missense	3/3	-
1-152800124-G-T	LCE1A	c.176G>T	p.Gly59Val	Missense	1/1	-
6-136582401-A-T	BCLAF1	c.2757+2T>A	-	IntronicSNV	-	12/12
3-58134505-A-G	FLNB	c.6017A>G	p.Lys2006Arg	Missense	36/46	-
7-72413423-C-T	POM121	c.2096C>T	p.Pro699Leu	Missense	14/16	-
7-72413423-C-G	POM121	c.2096C>G	p.Pro699Arg	Missense	14/16	-
16-1291175-G-T	TPSAB1	c.83G>T	p.Arg28Leu	Missense	3/6	-
2-170068502-T-A	LRP2	c.6256A>T	p.Thr2086Ser	Missense	37/79	-
3-195513364-C-G	MUC4	c.5087G>C	p.Arg1696Pro	Missense	2/25	-
19-22156482-G-A	ZNF208	c.1354C>T	p.Pro452Ser	Missense	4/4	-
3-195513364-C-T	MUC4	c.5087G>A	p.Arg1696His	Missense	2/25	-
19-22156482-G-T	ZNF208	c.1354C>A	p.Pro452Thr	Missense	4/4	-
17-6703384-C-T	TEKT1	c.1219G>A	p.Val407Ile	Missense	8/8	-
17-6703384-C-G	TEKT1	c.1219G>C	p.Val407Leu	Missense	8/8	-
12-88472996-C-T	CEP290	c.5237G>A	p.Arg1746Gln	Missense	39/54	-
1-16355638-T-A	CLCNKA	c.1071T>A	p.His357Gln	Missense	12/20	-
19-14165598-C-T	PALM3	c.886G>A	-	missense_variant	7/7	-
15-65756196-G-T	DPP8	c.1874C>A	p.Thr625Asn	Missense	15/18	-
10-121196335-G-C	GRK5	c.911G>C	p.Arg304Pro	Missense	9/16	-
10-121196335-G-A	GRK5	c.911G>A	p.Arg304His	Missense	9/16	-
4-79188076-T-G	FRAS1	c.776T>G	p.Leu259Arg	Missense	8/42	-
19-41497272-A-T	CYP2B6	c.62A>T	p.Gln21Leu	Missense	1/9	-
15-34647875-T-G	NUTM1	c.1582T>G	p.Ser528Ala	Missense	8/8	-
7-100677988-T-A	MUC17	c.3291T>A	p.Ser1097Arg	Missense	3/13	-
17-3664361-T-C	ITGAE	c.544A>G	p.Lys182Glu	Missense	6/31	-
1-204159787-G-A	KISS1	c.242C>T	p.Pro81Leu	Missense	3/3	-
X-140994017-T-A	MAGEC1	c.827T>A	p.Phe276Tyr	Missense	4/4	-
12-94603406-G-C	PLXNC1	c.1480G>C	p.Glu494Gln	Missense	5/31	-
19-44515074-C-A	ZNF230	c.883C>A	p.Leu295Ile	Missense	5/5	-
3-98188580-C-T	OR5K1	c.160C>T	p.Arg54Trp	Missense	1/1	-
12-132283582-G-C	SFSWAP	c.2718G>C	p.Arg906Ser	Missense	17/18	-
12-132283582-G-T	SFSWAP	c.2718G>T	p.Arg906Ser	Missense	17/18	-
11-4616062-C-T	OR52I1	c.794C>T	p.Ala265Val	Missense	1/1	-
8-108334162-G-T	ANGPT1	c.770C>A	p.Thr257Lys	Missense	4/9	-
22-50617691-T-C	PANX2	c.2019T>C	p.Ser673Ser	Synonymous	3/3	-
11-73105341-C-G	RELT	c.767C>G	p.Thr256Arg	Missense	8/11	-
15-65369395-C-T	KBTBD13	c.242C>T	p.Ala81Val	Missense	1/1	-
6-52303361-G-T	EFHC1	c.545G>T	p.Arg182Leu	Missense	3/11	-
15-43724532-T-A	TP53BP1	c.3535A>T	p.Ile1179Leu	Missense	17/28	-
15-91424905-G-A	FURIN	c.2182G>A	p.Val728Ile	Missense	16/16	-
7-100684550-A-G	MUC17	c.9853A>G	p.Ser3285Gly	Missense	3/13	-
9-113275227-C-T	SVEP1	c.1282G>A	p.Gly428Ser	Missense	5/48	-
3-195506446-G-A	MUC4	c.12005C>T	p.Pro4002Leu	Missense	2/25	-
3-195506446-G-T	MUC4	c.12005C>A	p.Pro4002His	Missense	2/25	-
14-22102374-T-C	OR10G2	c.625A>G	p.Arg209Gly	Missense	1/1	-
2-85571458-C-T	RETSAT	c.1270G>A	p.Val424Ile	Missense	8/11	-
3-49832788-G-A	CDHR4	c.872C>T	p.Thr291Met	Missense	8/19	-
18-8806925-A-G	MTCL1	c.2471A>G	p.Lys824Arg	Missense	11/17	-
7-100637338-G-A	MUC12	c.3494G>A	p.Arg1165Gln	Missense	2/12	-
12-113623241-C-T	DDX54	c.16G>A	p.Gly6Ser	Missense	1/20	-
4-66509085-T-G	EPHA5	c.242A>C	p.Asn81Thr	Missense	2/18	-
18-59713173-A-C	PIGN	c.2712T>G	p.Phe904Leu	Missense	31/31	-
19-40376880-T-G	FCGBP	c.11542A>C	p.Lys3848Gln	Missense	24/36	-
1-89449298-C-T	KYAT3	c.99+4637G>A	-	IntronicSNV	-	2/13
5-110428085-C-T	WDR36	c.99C>T	p.Asp33Asp	Synonymous	1/23	-
11-130058437-G-A	ST14	c.254G>A	p.Arg85His	Missense	3/19	-
10-50819567-G-A	SLC18A3	c.781G>A	p.Ala261Thr	Missense	1/1	-
5-140627020-G-T	PCDHB15	c.1874G>T	p.Arg625Leu	Missense	1/1	-
5-140627020-G-A	PCDHB15	c.1874G>A	p.Arg625His	Missense	1/1	-
19-40406029-C-T	FCGBP	c.4817G>A	p.Arg1606Gln	Missense	10/36	-
6-158923120-C-A	TULP4	c.2425C>A	p.Pro809Thr	Missense	13/14	-
6-152464786-G-C	SYNE1	c.25091C>G	p.Pro8364Arg	Missense	138/146	-
5-176759170-C-T	LMAN2	c.988G>A	p.Ala330Thr	Missense	8/8	-
1-248458717-C-G	OR2T12	c.164G>C	p.Arg55Thr	Missense	1/1	-
20-57597971-G-A	TUBB1	c.129G>A	p.Gln43Gln	Synonymous	2/4	-
4-190876204-G-T	FRG1	c.330G>T	p.Lys110Asn	Missense	5/9	-
10-135341012-C-G	CYP2E1	c.113C>G	p.Pro38Arg	Missense	1/9	-
3-195509573-A-G	MUC4	c.8878T>C	p.Ser2960Pro	Missense	2/25	-
9-33385690-G-A	AQP7	c.700C>T	p.Arg234Cys	Missense	7/8	-
19-12186921-T-C	ZNF844	c.986T>C	p.Val329Ala	Missense	4/4	-
17-18391003-G-A	LGALS9C	c.376G>A	p.Val126Met	Missense	4/11	-
10-50824106-C-G	CHAT	c.287-442C>G	-	IntronicSNV	-	1/14
10-50824106-C-A	CHAT	c.287-442C>A	-	IntronicSNV	-	1/14
5-140222157-A-T	PCDHA1	c.2394+53888A>T	-	IntronicSNV	-	1/3
5-140222157-A-C	PCDHA1	c.2394+53888A>C	-	IntronicSNV	-	1/3
14-105407525-G-A	AHNAK2	c.14263C>T	p.Pro4755Ser	Missense	7/7	-
9-140773504-A-C	CACNA1B	c.285-2A>C	-	IntronicSNV	-	1/46
1-12942119-C-T	PRAMEF4	c.431G>A	p.Arg144Lys	Missense	3/4	-
19-53116949-T-C	ZNF83	c.869A>G	p.Lys290Arg	Missense	3/3	-
2-209302328-C-T	PTH2R	c.245C>T	p.Ser82Leu	Missense	3/13	-
12-53298606-A-G	KRT8	c.160T>C	p.Tyr54His	Missense	1/8	-
5-149360630-C-T	SLC26A2	c.1474C>T	p.Arg492Trp	Missense	3/3	-
17-16097825-T-G	NCOR1	c.59A>C	p.Tyr20Ser	Missense	2/46	-
1-92446927-G-A	BRDT	c.1853G>A	p.Arg618His	Missense	11/19	-
2-130832292-T-A	POTEF	c.2753A>T	p.Tyr918Phe	Missense	17/17	-
2-130832292-T-C	POTEF	c.2753A>G	p.Tyr918Cys	Missense	17/17	-
22-18354783-T-G	MICAL3	c.2248A>C	p.Met750Leu	Missense	16/20	-
16-70161263-T-C	PDPR	c.328T>C	p.Tyr110His	Missense	4/19	-
20-57597970-A-C	TUBB1	c.128A>C	p.Gln43Pro	Missense	2/4	-
12-53039173-G-C	KRT2	c.1550C>G	p.Ala517Gly	Missense	9/9	-
12-52682218-C-G	KRT81	c.662G>C	p.Arg221Pro	Missense	4/9	-
7-100637338-G-C	MUC12	c.3494G>C	p.Arg1165Pro	Missense	2/12	-
12-52682218-C-T	KRT81	c.662G>A	p.Arg221His	Missense	4/9	-
19-40519905-G-C	ZNF546	c.728G>C	p.Arg243Thr	Missense	7/7	-
19-43244485-G-C	PSG3	c.52C>G	p.Leu18Val	Missense	1/7	-
3-195506747-C-T	MUC4	c.11704G>A	p.Ala3902Thr	Missense	2/25	-
15-73029268-A-G	BBS4	c.1414A>G	p.Met472Val	Missense	15/16	-
5-177019262-C-G	TMED9	c.47C>G	p.Thr16Ser	Missense	1/5	-
15-73029268-A-T	BBS4	c.1414A>T	p.Met472Leu	Missense	15/16	-
12-31237978-C-T	DDX11	c.556C>T	p.Arg186Trp	Missense	5/27	-
15-40544520-G-T	C15orf56	c.452C>A	p.Pro151Gln	Missense	2/2	-
8-144810322-G-A	FAM83H	c.1309C>T	p.His437Tyr	Missense	5/5	-
9-136268952-G-T	STKLD1	c.1603G>T	p.Gly535Cys	Missense	15/18	-
6-32629920-C-T	HLA-DQB1	c.485G>A	p.Arg162Gln	Missense	3/5	-
16-67685730-A-T	CARMIL2	c.2570A>T	p.Asp857Val	Missense	25/38	-
11-71498671-G-C	FAM86C1	c.89G>C	p.Arg30Pro	Missense	1/4	-
17-79225056-T-A	SLC38A10	c.2302A>T	p.Met768Leu	Missense	14/14	-
17-79225056-T-C	SLC38A10	c.2302A>G	p.Met768Val	Missense	14/14	-
7-100636461-C-T	MUC12	c.2617C>T	p.Pro873Ser	Missense	2/12	-
7-100636461-C-A	MUC12	c.2617C>A	p.Pro873Thr	Missense	2/12	-
5-174948943-C-T	SFXN1	c.796C>T	p.Pro266Ser	Missense	9/11	-
19-14952560-G-T	OR7A10	c.130C>A	p.Leu44Ile	Missense	1/1	-
16-1278745-C-T	TPSB2	c.734G>A	p.Gly245Glu	Missense	7/7	-
20-62701627-G-A	TCEA2	c.451G>A	p.Val151Ile	Missense	8/11	-
15-40544520-G-C	C15orf56	c.452C>G	p.Pro151Arg	Missense	2/2	-
2-109276099-G-A	LIMS1	c.35G>A	p.Arg12His	Missense	2/10	-
19-51919321-T-C	SIGLEC10	c.855A>G	p.Thr285Thr	Synonymous	5/11	-
3-125648283-A-G	ALG1L	c.476T>C	p.Ile159Thr	Missense	6/6	-
20-36640870-C-A	TTI1	c.1349G>T	p.Arg450Leu	Missense	3/9	-
16-67685730-A-G	CARMIL2	c.2570A>G	p.Asp857Gly	Missense	25/38	-
16-67685730-A-C	CARMIL2	c.2570A>C	p.Asp857Ala	Missense	25/38	-
12-113730816-C-T	TPCN1	c.2191C>T	p.Arg731Trp	Missense	26/28	-
17-40822308-C-A	PLEKHH3	c.1641G>T	p.Gln547His	Missense	11/13	-
7-1024855-G-A	CYP2W1	c.541G>A	p.Ala181Thr	Missense	4/9	-
19-13411451-T-G	CACNA1A	c.2204A>C	p.Glu735Ala	Missense	18/48	-
2-73438037-G-A	NOTO	c.736G>A	p.Glu246Lys	Missense	3/3	-
8-10469030-G-A	RP1L1	c.2578C>T	p.Arg860Trp	Missense	4/4	-
17-33768381-T-C	SLFN13	c.1927A>G	p.Arg643Gly	Missense	6/6	-
15-43724532-T-C	TP53BP1	c.3535A>G	p.Ile1179Val	Missense	17/28	-
17-79225026-C-T	SLC38A10	c.2332G>A	p.Ala778Thr	Missense	14/14	-
17-79225026-C-G	SLC38A10	c.2332G>C	p.Ala778Pro	Missense	14/14	-
1-145365372-C-G	NBPF10	c.10216C>G	-	missense_variant	82/86	-
19-40376880-T-C	FCGBP	c.11542A>G	p.Lys3848Glu	Missense	24/36	-
19-991129-G-C	WDR18	c.790G>C	p.Val264Leu	Missense	6/10	-
1-89449298-C-G	KYAT3	c.99+4637G>C	-	IntronicSNV	-	2/13
13-21750534-G-A	SKA3	c.83C>T	p.Ala28Val	Missense	1/9	-
6-132909838-G-C	TAAR5	c.988C>G	p.Arg330Gly	Missense	1/1	-
2-223339437-A-C	SGPP2	c.370A>C	p.Ile124Leu	Missense	2/5	-
X-140993990-C-T	MAGEC1	c.800C>T	p.Ser267Phe	Missense	4/4	-
3-195506435-T-C	MUC4	c.12016A>G	p.Thr4006Ala	Missense	2/25	-
14-23845076-G-A	IL25	c.521G>A	p.Arg174His	Missense	2/2	-
9-98638273-C-T	ERCC6L2	c.1-15C>T	-	5-UTRSNV	1/14	-
19-7056571-G-A	MBD3L3	c.389C>T	p.Ala130Val	Missense	2/2	-
3-195506435-T-G	MUC4	c.12016A>C	p.Thr4006Pro	Missense	2/25	-
3-195506435-T-A	MUC4	c.12016A>T	p.Thr4006Ser	Missense	2/25	-
19-17881605-A-G	FCHO1	c.494A>G	p.Glu165Gly	Missense	9/29	-
1-248722659-C-T	OR2T29	c.134G>A	p.Gly45Glu	Missense	1/1	-
17-40341909-G-T	GHDC	c.1405C>A	p.Arg469Ser	Missense	10/10	-
17-40341909-G-A	GHDC	c.1405C>T	p.Arg469Cys	Missense	10/10	-
1-1599812-C-T	SLC35E2B	c.934G>A	p.Val312Ile	Missense	8/9	-
8-144885597-G-C	SCRIB	c.3559C>G	p.Leu1187Val	Missense	24/36	-
8-125463428-C-T	TRMT12	c.260C>T	p.Thr87Met	Missense	1/1	-
20-2321163-C-T	TGM3	c.2018C>T	p.Ala673Val	Missense	13/13	-
9-21228040-C-A	IFNA17	c.133G>T	p.Gly45*	Nonsense	1/1	-
18-31326012-T-G	ASXL3	c.6200T>G	p.Leu2067Arg	Missense	12/12	-
9-136081319-C-T	OBP2B	c.499G>A	p.Val167Ile	Missense	6/7	-
8-125463428-C-G	TRMT12	c.260C>G	p.Thr87Arg	Missense	1/1	-
20-2321163-C-A	TGM3	c.2018C>A	p.Ala673Asp	Missense	13/13	-
11-824042-C-T	PNPLA2	c.964C>T	p.Leu322Phe	Missense	8/10	-
5-110428085-C-G	WDR36	c.99C>G	p.Asp33Glu	Missense	1/23	-
11-82444668-C-G	FAM181B	c.104G>C	p.Gly35Ala	Missense	1/1	-
19-53056953-G-A	ZNF808	c.784G>A	p.Asp262Asn	Missense	5/5	-
4-186318414-T-G	ANKRD37	c.138T>G	p.Phe46Leu	Missense	2/5	-
15-43819450-A-G	MAP1A	c.5779A>G	p.Lys1927Glu	Missense	4/6	-
7-28996904-T-C	TRIL	c.756A>G	-	synonymous_variant	3/3	-
19-15905468-T-G	OR10H5	c.610T>G	p.Cys204Gly	Missense	1/1	-
19-52034506-C-T	SIGLEC6	c.335G>A	p.Arg112Gln	Missense	2/8	-
20-3171872-G-A	DDRGK1	c.742C>T	p.Arg248Cys	Missense	8/9	-
11-1269215-C-A	MUC5B	c.11105C>A	p.Thr3702Lys	Missense	31/49	-
11-121444958-A-G	SORL1	c.3346A>G	p.Ile1116Val	Missense	24/48	-
21-46396659-G-C	FAM207A	c.634G>C	p.Val212Leu	Missense	6/6	-
2-63220672-C-T	EHBP1	c.2954C>T	p.Thr985Ile	Missense	19/25	-
21-46396659-G-T	FAM207A	c.634G>T	p.Val212Leu	Missense	6/6	-
8-7308386-T-C	SPAG11B	c.*15A>G	-	3-UTRSNV	4/4	-
16-3254556-G-A	OR1F1	c.310G>A	p.Val104Ile	Missense	3/3	-
12-72068117-G-A	THAP2	c.206G>A	p.Arg69Gln	Missense	2/3	-
20-60893697-C-T	LAMA5	c.7052G>A	p.Arg2351Gln	Missense	53/80	-
7-100646199-T-C	MUC12	c.12355T>C	p.Phe4119Leu	Missense	2/12	-
15-83502066-C-G	WHAMM	c.2208C>G	p.His736Gln	Missense	10/10	-
18-9570592-A-G	PPP4R1	c.1085T>C	p.Leu362Pro	Missense	11/20	-
19-22155918-T-C	ZNF208	c.1918A>G	p.Lys640Glu	Missense	4/4	-
19-55105722-G-C	LILRA1	c.13G>C	p.Val5Leu	Missense	2/10	-
19-55105722-G-A	LILRA1	c.13G>A	p.Val5Ile	Missense	2/10	-
19-55105722-G-T	LILRA1	c.13G>T	p.Val5Phe	Missense	2/10	-
16-1859342-A-G	HAGH	c.869T>C	p.Val290Ala	Missense	9/9	-
10-124345796-C-A	DMBT1	c.1420+1929C>A	-	IntronicSNV	-	14/39
19-35719076-C-T	FAM187B	c.508G>A	p.Glu170Lys	Missense	1/2	-
16-67997920-T-C	SLC12A4	c.116-458A>G	-	IntronicSNV	-	1/23
4-70080139-C-G	UGT2B11	c.302G>C	p.Arg101Pro	Missense	1/6	-
2-153475663-C-T	FMNL2	c.1618C>T	p.Pro540Ser	Missense	14/26	-
10-111890151-C-G	ADD3	c.1639C>G	p.Pro547Ala	Missense	13/14	-
6-132859770-C-T	TAAR9	c.342C>T	p.Ser114Ser	Synonymous	1/1	-
2-160673519-G-A	LY75	c.4178C>T	p.Thr1393Ile	Missense	30/35	-
9-115933980-C-T	FKBP15	c.2539G>A	p.Ala847Thr	Missense	24/28	-
20-34092076-G-A	CEP250	c.5879G>A	p.Arg1960Gln	Missense	30/35	-
11-33054856-C-T	DEPDC7	c.1364C>T	p.Thr455Ile	Missense	9/9	-
12-53876569-C-T	MAP3K12	c.1919G>A	p.Gly640Asp	Missense	12/15	-
3-53857917-T-G	CHDH	c.119A>C	p.Glu40Ala	Missense	3/9	-
10-50819567-G-C	SLC18A3	c.781G>C	p.Ala261Pro	Missense	1/1	-
15-43282285-C-T	UBR1	c.3791G>A	p.Gly1264Glu	Missense	34/47	-
11-55653617-A-C	TRIM51	c.430A>C	p.Met144Leu	Missense	3/7	-
10-111890151-C-T	ADD3	c.1639C>T	p.Pro547Ser	Missense	13/14	-
10-129914025-C-T	MKI67	c.647G>A	p.Gly216Glu	Missense	7/15	-
7-55902230-T-C	SEPT14	c.608A>G	p.Asp203Gly	Missense	6/10	-
X-38020288-G-A	SRPX	c.673C>T	p.Pro225Ser	Missense	6/10	-
9-115933980-C-A	FKBP15	c.2539G>T	p.Ala847Ser	Missense	24/28	-
7-136935977-C-T	PTN	c.451G>A	p.Ala151Thr	Missense	4/5	-
2-107040372-C-G	RGPD3	c.4051G>C	p.Glu1351Gln	Missense	20/23	-
17-39305820-C-A	KRTAP4-5	c.200G>T	p.Arg67Leu	Missense	1/1	-
7-148288020-G-T	C7orf33	c.3G>T	p.Met1Ile	Missense	1/3	-
1-201754444-G-A	NAV1	c.2811G>A	p.Gln937Gln	Synonymous	8/30	-
X-140994517-C-T	MAGEC1	c.1327C>T	p.Leu443Phe	Missense	4/4	-
X-140994517-C-G	MAGEC1	c.1327C>G	p.Leu443Val	Missense	4/4	-
1-2938924-T-G	ACTRT2	c.674T>G	p.Leu225Trp	Missense	1/1	-
11-85436439-A-G	SYTL2	c.1061T>C	p.Phe354Ser	Missense	7/20	-
6-135521495-G-A	MYB	c.1520G>A	p.Gly507Glu	Missense	12/15	-
19-4954757-G-A	UHRF1	c.2051G>A	-	missense_variant	16/18	-
22-50724504-C-G	PLXNB2	c.1901G>C	p.Arg634Pro	Missense	10/37	-
2-201485959-C-T	AOX1	c.1991C>T	p.Ala664Val	Missense	18/35	-
22-50724504-C-T	PLXNB2	c.1901G>A	p.Arg634His	Missense	10/37	-
19-40406029-C-G	FCGBP	c.4817G>C	p.Arg1606Pro	Missense	10/36	-
22-50877170-C-G	PPP6R2	c.2026C>G	p.Pro676Ala	Missense	18/23	-
X-46918243-T-C	JADE3	c.2236T>C	p.Phe746Leu	Missense	11/11	-
19-58723818-A-G	ZNF274	c.1268A>G	-	missense_variant	9/9	-
5-176759170-C-G	LMAN2	c.988G>C	p.Ala330Pro	Missense	8/8	-
1-153233510-A-T	LOR	c.85A>T	p.Ser29Cys	Missense	2/2	-
6-108395700-C-G	OSTM1	c.156G>C	p.Leu52Phe	Missense	1/6	-
19-50381425-A-G	TBC1D17	c.47A>G	p.Tyr16Cys	Missense	2/17	-
11-123909650-C-T	OR10G7	c.59G>A	p.Gly20Glu	Missense	1/1	-
11-123909650-C-G	OR10G7	c.59G>C	p.Gly20Ala	Missense	1/1	-
4-57797350-C-G	REST	c.2326C>G	p.Pro776Ala	Missense	4/4	-
5-140596087-C-T	PCDHB13	c.2392C>T	p.Gln798*	Nonsense	1/1	-
4-57797350-C-T	REST	c.2326C>T	p.Pro776Ser	Missense	4/4	-
6-37614063-C-T	MDGA1	c.2135G>A	p.Arg712His	Missense	11/17	-
11-67818269-G-A	TCIRG1	c.2476G>A	p.Ala826Thr	Missense	20/20	-
20-57597971-G-C	TUBB1	c.129G>C	p.Gln43His	Missense	2/4	-
1-41976217-G-C	HIVEP3	c.7126C>G	p.Pro2376Ala	Missense	9/9	-
1-41976217-G-A	HIVEP3	c.7126C>T	p.Pro2376Ser	Missense	9/9	-
6-80717676-C-T	TTK	c.290C>T	p.Ala97Val	Missense	3/22	-
1-156105704-G-A	LMNA	c.949G>A	p.Glu317Lys	Missense	6/12	-
1-156105704-G-T	LMNA	c.949G>T	p.Glu317*	Nonsense	6/12	-
3-183994447-C-T	EEF1AKMT4-ECE2	c.481-233C>T	-	IntronicSNV	-	2/18
3-183994447-C-G	EEF1AKMT4-ECE2	c.481-233C>G	-	IntronicSNV	-	2/18
11-65715203-C-T	TSGA10IP	c.907C>T	p.Arg303*	Nonsense	3/8	-
10-73594215-C-A	PSAP	c.88G>T	p.Ala30Ser	Missense	2/14	-
1-204378775-T-C	PPP1R15B	c.1765A>G	p.Lys589Glu	Missense	1/2	-
19-622207-C-T	POLRMT	c.1793G>A	p.Arg598His	Missense	9/21	-
11-71548544-A-G	DEFB108B	c.158A>G	p.Gln53Arg	Missense	2/2	-
3-49689642-C-T	BSN	c.2653C>T	p.Pro885Ser	Missense	5/12	-
11-56756516-G-C	OR5AK2	c.128G>C	p.Ser43Thr	Missense	1/1	-
12-122845698-C-A	CLIP1	c.813G>T	p.Leu271Phe	Missense	5/25	-
16-56535333-G-A	BBS2	c.1157C>T	p.Thr386Met	Missense	10/17	-
9-33385863-G-A	AQP7	c.527C>T	p.Ala176Val	Missense	7/8	-
6-35745305-G-A	CLPSL2	c.154G>A	p.Gly52Ser	Missense	2/3	-
19-622207-C-A	POLRMT	c.1793G>T	p.Arg598Leu	Missense	9/21	-
3-195511070-C-T	MUC4	c.7381G>A	p.Asp2461Asn	Missense	2/25	-
5-173035291-G-A	BOD1	c.*6C>T	-	3_prime_UTR_variant	4/4	-
3-195511070-C-G	MUC4	c.7381G>C	p.Asp2461His	Missense	2/25	-
4-6302838-T-G	WFS1	c.1316T>G	p.Phe439Cys	Missense	8/8	-
5-112769659-C-T	MCC	c.171-48750G>A	-	IntronicSNV	-	1/18
11-56468638-G-A	OR9G1	c.775G>A	p.Ala259Thr	Missense	1/1	-
11-56468638-G-T	OR9G1	c.775G>T	p.Ala259Ser	Missense	1/1	-
5-150227966-C-T	IRGM	c.281C>T	p.Thr94Ile	Missense	2/2	-
16-336916-C-T	PDIA2	c.1504C>T	p.Pro502Ser	Missense	10/11	-
5-150227966-C-A	IRGM	c.281C>A	p.Thr94Lys	Missense	2/2	-
16-70572328-A-G	SF3B3	c.928A>G	p.Ile310Val	Missense	7/26	-
19-49539560-T-C	CGB1	c.10A>G	p.Arg4Gly	Missense	2/3	-
16-427699-C-G	TMEM8A	c.271G>C	p.Ala91Pro	Missense	2/13	-
19-49539560-T-G	CGB1	c.10A>C	p.Arg4Arg	Synonymous	2/3	-
X-135956342-C-G	RBMX	c.1135G>C	p.Gly379Arg	Missense	9/9	-
9-84606251-T-C	SPATA31D1	c.866T>C	p.Ile289Thr	Missense	4/4	-
19-43530473-G-A	PSG11	c.52C>T	p.Leu18Phe	Missense	1/6	-
19-17837425-C-G	MAP1S	c.1232C>G	p.Ser411Cys	Missense	5/7	-
1-40230336-C-A	BMP8B	c.827G>T	p.Ser276Ile	Missense	4/7	-
16-72830539-C-G	ZFHX3	c.6042G>C	p.Gln2014His	Missense	9/10	-
8-68421768-G-A	CPA6	c.518C>T	p.Ser173Phe	Missense	5/11	-
16-72830539-C-A	ZFHX3	c.6042G>T	p.Gln2014His	Missense	9/10	-
10-135341012-C-T	CYP2E1	c.113C>T	p.Pro38Leu	Missense	1/9	-
6-137015311-G-A	MAP3K5	c.1220C>T	p.Thr407Met	Missense	7/30	-
9-8485885-T-C	PTPRD	c.1814-561A>G	-	IntronicSNV	-	11/29
3-195507086-C-A	MUC4	c.11365G>T	p.Asp3789Tyr	Missense	2/25	-
17-39579059-G-C	KRT37	c.703C>G	p.Gln235Glu	Missense	3/7	-
1-16386495-C-T	FAM131C	c.320G>A	p.Arg107Gln	Missense	5/7	-
7-151882672-C-T	KMT2C	c.5053G>A	p.Ala1685Thr	Missense	34/59	-
5-96341912-C-T	LNPEP	c.1921C>T	p.Pro641Ser	Missense	10/18	-
17-39553547-G-A	KRT31	c.245C>T	p.Ala82Val	Missense	1/7	-
2-31215798-C-A	GALNT14	c.205G>T	p.Val69Phe	Missense	2/15	-
17-39579059-G-A	KRT37	c.703C>T	p.Gln235*	Nonsense	3/7	-
17-39579059-G-T	KRT37	c.703C>A	p.Gln235Lys	Missense	3/7	-
10-124377661-G-A	DMBT1	c.2749G>A	p.Val917Met	Missense	25/40	-
1-16386495-C-G	FAM131C	c.320G>C	p.Arg107Pro	Missense	5/7	-
9-40702760-T-C	SPATA31A3	c.417T>C	p.His139His	Synonymous	4/4	-
12-53455042-A-G	TNS2	c.3352A>G	p.Thr1118Ala	Missense	20/29	-
12-54422504-C-T	HOXC6	c.199C>T	p.Arg67Trp	Missense	1/2	-
12-54422504-C-A	HOXC6	c.199C>A	p.Arg67Arg	Synonymous	1/2	-
12-54422504-C-G	HOXC6	c.199C>G	p.Arg67Gly	Missense	1/2	-
6-132860260-G-A	TAAR9	c.832G>A	p.Ala278Thr	Missense	1/1	-
2-74783865-A-G	DOK1	c.1070A>G	p.Lys357Arg	Missense	5/5	-
6-42074872-A-C	C6orf132	c.778T>G	p.Ser260Ala	Missense	4/5	-
2-74783865-A-T	DOK1	c.1070A>T	p.Lys357Ile	Missense	5/5	-
9-33385690-G-T	AQP7	c.700C>A	p.Arg234Ser	Missense	7/8	-
21-45391272-C-T	AGPAT3	c.668C>T	p.Ala223Val	Missense	7/10	-
9-33385690-G-C	AQP7	c.700C>G	p.Arg234Gly	Missense	7/8	-
21-47703746-A-G	MCM3AP	c.1226T>C	p.Leu409Pro	Missense	2/28	-
17-73261868-G-A	MRPS7	c.593G>A	p.Arg198Gln	Missense	5/5	-
17-14140080-C-G	CDRT15	c.71G>C	p.Arg24Pro	Missense	1/3	-
17-14140080-C-T	CDRT15	c.71G>A	p.Arg24Gln	Missense	1/3	-
17-14140080-C-A	CDRT15	c.71G>T	p.Arg24Leu	Missense	1/3	-
5-150436503-G-C	TNIP1	c.451C>G	p.Pro151Ala	Missense	6/18	-
10-49658943-G-T	ARHGAP22	c.1229C>A	p.Thr410Lys	Missense	9/10	-
10-49658943-G-A	ARHGAP22	c.1229C>T	p.Thr410Met	Missense	9/10	-
6-169621600-G-T	THBS2	c.3296C>A	p.Pro1099His	Missense	21/23	-
17-21319868-G-A	KCNJ12	c.1214G>A	p.Ser405Asn	Missense	3/3	-
19-58864480-G-A	A1BG	c.154C>T	p.His52Tyr	Missense	3/8	-
3-140167490-T-A	CLSTN2	c.917T>A	p.Ile306Asn	Missense	6/17	-
3-140167490-T-C	CLSTN2	c.917T>C	p.Ile306Thr	Missense	6/17	-
11-51516144-A-G	OR4C46	c.863A>G	p.Lys288Arg	Missense	1/1	-
10-105160184-A-G	PDCD11	c.133A>G	p.Lys45Glu	Missense	3/36	-
11-58714574-A-G	GLYATL1	c.171+33A>G	-	IntronicSNV	-	3/6
1-1271853-G-A	DVL1	c.1682C>T	p.Pro561Leu	Missense	15/15	-
16-4625470-C-G	C16orf96	c.989C>G	p.Pro330Arg	Missense	5/16	-
5-150436503-G-A	TNIP1	c.451C>T	p.Pro151Ser	Missense	6/18	-
2-238289980-G-C	COL6A3	c.1475C>G	p.Thr492Ser	Missense	5/44	-
6-169621600-G-A	THBS2	c.3296C>T	p.Pro1099Leu	Missense	21/23	-
1-33235789-C-A	KIAA1522	c.832C>A	p.Pro278Thr	Missense	6/7	-
17-2238152-T-C	TSR1	c.595A>G	p.Lys199Glu	Missense	5/15	-
14-105398392-G-C	PLD4	c.1102G>C	p.Gly368Arg	Missense	9/11	-
14-105398392-G-A	PLD4	c.1102G>A	p.Gly368Ser	Missense	9/11	-
14-105398392-G-T	PLD4	c.1102G>T	p.Gly368Cys	Missense	9/11	-
16-28607196-G-C	SULT1A2	c.56C>G	p.Pro19Arg	Missense	2/8	-
16-28607196-G-A	SULT1A2	c.56C>T	p.Pro19Leu	Missense	2/8	-
7-100639095-A-C	MUC12	c.5251A>C	p.Thr1751Pro	Missense	2/12	-
11-47270313-G-A	ACP2	c.28C>T	p.Arg10Trp	Missense	1/11	-
7-100639095-A-T	MUC12	c.5251A>T	p.Thr1751Ser	Missense	2/12	-
7-100639095-A-G	MUC12	c.5251A>G	p.Thr1751Ala	Missense	2/12	-
15-43348610-T-C	UBR1	c.1213A>G	p.Ser405Gly	Missense	11/47	-
13-24465717-A-G	C1QTNF9B	c.713T>C	p.Val238Ala	Missense	3/3	-
13-24465717-A-C	C1QTNF9B	c.713T>G	p.Val238Gly	Missense	3/3	-
13-78477314-C-A	EDNRB	c.778G>T	p.Val260Phe	Missense	4/8	-
16-70694056-C-G	IL34	c.695C>G	p.Pro232Arg	Missense	7/7	-
11-123909653-G-T	OR10G7	c.56C>A	p.Pro19Gln	Missense	1/1	-
11-77413429-T-C	RSF1	c.845A>G	p.Asp282Gly	Missense	6/16	-
12-53170960-G-C	KRT76	c.116C>G	p.Ala39Gly	Missense	1/9	-
5-96245365-C-G	ERAP2	c.2251C>G	p.Arg751Gly	Missense	15/19	-
14-24799164-G-T	ADCY4	c.1119C>A	p.Ser373Arg	Missense	8/25	-
17-39254247-A-T	KRTAP4-8	c.90T>A	p.Cys30*	Nonsense	1/1	-
9-130422312-G-A	STXBP1	c.250G>A	p.Val84Ile	Missense	5/20	-
12-7527284-C-T	CD163L1	c.3163G>A	p.Gly1055Ser	Missense	13/20	-
14-105180785-C-T	INF2	c.3286C>T	p.Pro1096Ser	Missense	21/23	-
12-53298606-A-T	KRT8	c.160T>A	p.Tyr54Asn	Missense	1/8	-
5-109756330-T-C	TMEM232	c.1925A>G	p.His642Arg	Missense	14/14	-
3-195510878-C-A	MUC4	c.7573G>T	p.Asp2525Tyr	Missense	2/25	-
3-195510878-C-G	MUC4	c.7573G>C	p.Asp2525His	Missense	2/25	-
19-54755922-C-T	LILRB5	c.1624G>A	p.Ala542Thr	Missense	12/13	-
4-78079695-T-G	CCNG2	c.10T>G	p.Leu4Val	Missense	2/8	-
17-39521248-A-C	KRT33B	c.880T>G	p.Tyr294Asp	Missense	6/7	-
21-11049596-C-A	BAGE2	c.305G>T	p.Cys102Phe	Missense	4/10	-
19-41384702-T-C	CYP2A7	c.641A>G	p.Gln214Arg	Missense	4/8	-
19-35231638-A-G	ZNF181	c.352A>G	p.Lys118Glu	Missense	4/4	-
8-110510964-A-C	PKHD1L1	c.10792A>C	p.Ser3598Arg	Missense	67/78	-
10-96798669-T-C	CYP2C8	c.1276A>G	p.Met426Val	Missense	8/9	-
11-65629482-G-A	MUS81	c.416G>A	p.Arg139Gln	Missense	4/16	-
7-100677279-G-C	MUC17	c.2582G>C	p.Ser861Thr	Missense	3/13	-
7-133906576-A-G	LRGUK	c.1889A>G	p.Tyr630Cys	Missense	16/20	-
14-105612169-C-T	JAG2	c.2851G>A	p.Ala951Thr	Missense	23/26	-
19-55107308-G-A	LILRA1	c.866G>A	p.Arg289His	Missense	6/10	-
12-120306959-C-T	CIT	c.143G>A	p.Arg48Gln	Missense	3/47	-
5-40998779-T-C	MROH2B	c.4586A>G	p.Asp1529Gly	Missense	41/42	-
7-100639066-C-T	MUC12	c.5222C>T	p.Ser1741Leu	Missense	2/12	-
10-124345796-C-T	DMBT1	c.1420+1929C>T	-	IntronicSNV	-	14/39
11-82444021-T-G	FAM181B	c.751A>C	p.Ser251Arg	Missense	1/1	-
22-23476312-C-T	RSPH14	c.322G>A	p.Asp108Asn	Missense	4/7	-
12-110383141-G-A	GIT2	c.1655C>T	p.Ala552Val	Missense	16/20	-
1-158298714-C-T	CD1B	c.977G>A	p.Arg326His	Missense	5/6	-
19-17837425-C-T	MAP1S	c.1232C>T	p.Ser411Phe	Missense	5/7	-
9-84606251-T-G	SPATA31D1	c.866T>G	p.Ile289Ser	Missense	4/4	-
17-48601096-C-T	MYCBPAP	c.1586C>T	-	missense_variant	12/19	-
11-120340060-A-T	ARHGEF12	c.2918A>T	p.Tyr973Phe	Missense	30/41	-
1-152800124-G-A	LCE1A	c.176G>A	p.Gly59Asp	Missense	1/1	-
9-21228040-C-G	IFNA17	c.133G>C	p.Gly45Arg	Missense	1/1	-
2-179482763-C-T	TTN	c.39611G>A	p.Arg13204Gln	Missense	202/312	-
16-12009279-A-G	GSPT1	c.299T>C	p.Val100Ala	Missense	1/15	-
14-54997751-C-T	CGRRF1	c.553C>T	p.Arg185Trp	Missense	4/6	-
8-27358495-C-T	EPHX2	c.154C>T	p.Arg52Trp	Missense	2/19	-
5-96245365-C-T	ERAP2	c.2251C>T	p.Arg751Cys	Missense	15/19	-
16-12009279-A-T	GSPT1	c.299T>A	p.Val100Asp	Missense	1/15	-
16-31155064-C-T	PRSS36	c.815G>A	p.Arg272His	Missense	7/15	-
9-110249816-G-A	KLF4	c.859C>T	p.His287Tyr	Missense	3/5	-
8-27358495-C-A	EPHX2	c.154C>A	p.Arg52Arg	Synonymous	2/19	-
2-189931144-A-G	COL5A2	c.1535T>C	p.Val512Ala	Missense	23/54	-
16-1537458-G-T	PTX4	c.640C>A	p.His214Asn	Missense	2/3	-
17-74300497-G-A	QRICH2	c.206C>T	p.Ala69Val	Missense	3/19	-
11-32781773-T-C	CCDC73	c.17A>G	p.Asn6Ser	Missense	2/18	-
3-10115033-G-T	FANCD2	c.2702G>T	p.Gly901Val	Missense	28/44	-
1-248085124-G-A	OR2T8	c.805G>A	p.Asp269Asn	Missense	1/1	-
14-105412260-G-T	AHNAK2	c.9528C>A	p.Asp3176Glu	Missense	7/7	-
2-215813807-T-A	ABCA12	c.6919A>T	p.Ile2307Phe	Missense	46/53	-
14-105412260-G-C	AHNAK2	c.9528C>G	p.Asp3176Glu	Missense	7/7	-
20-62577298-C-T	UCKL1	c.442G>A	p.Ala148Thr	Missense	4/15	-
3-49723750-A-T	MST1	c.1012T>A	p.Cys338Ser	Missense	8/18	-
7-100677455-G-A	MUC17	c.2758G>A	p.Gly920Arg	Missense	3/13	-
20-60897104-C-T	LAMA5	c.6467G>A	p.Gly2156Glu	Missense	48/80	-
14-23859610-C-A	MYH6	c.3388G>T	p.Ala1130Ser	Missense	26/39	-
11-60184277-A-G	MS4A14	c.1785A>G	p.Gln595Gln	Synonymous	4/4	-
11-60184277-A-C	MS4A14	c.1785A>C	p.Gln595His	Missense	4/4	-
16-24902299-C-G	SLC5A11	c.774C>G	p.Phe258Leu	Missense	9/16	-
19-40541039-C-T	ZNF780B	c.1727G>A	p.Arg576Gln	Missense	5/5	-
9-102591042-A-G	NR4A3	c.718A>G	p.Ser240Gly	Missense	3/8	-
12-11091206-G-A	TAS2R14	c.601C>T	p.Leu201Phe	Missense	1/1	-
7-151882672-C-A	KMT2C	c.5053G>T	p.Ala1685Ser	Missense	34/59	-
11-4674574-C-T	OR51E1	c.818C>T	p.Pro273Leu	Missense	2/2	-
1-40230336-C-G	BMP8B	c.827G>C	p.Ser276Thr	Missense	4/7	-
12-11461549-G-T	PRB4	c.368C>A	p.Pro123Gln	Missense	3/4	-
1-204159787-G-C	KISS1	c.242C>G	p.Pro81Arg	Missense	3/3	-
1-12921600-C-T	PRAMEF2	c.1391C>T	p.Pro464Leu	Missense	4/4	-
1-16384999-G-C	FAM131C	c.776C>G	p.Pro259Arg	Missense	7/7	-
9-139841132-G-T	C8G	c.586G>T	p.Val196Phe	Missense	6/7	-
2-215813807-T-C	ABCA12	c.6919A>G	p.Ile2307Val	Missense	46/53	-
12-108956417-T-C	ISCU	c.-153T>C	-	5_prime_UTR_variant	1/6	-
1-38040285-C-T	GNL2	c.1283G>A	p.Arg428Gln	Missense	11/16	-
1-16384999-G-A	FAM131C	c.776C>T	p.Pro259Leu	Missense	7/7	-
17-21319388-C-T	KCNJ12	c.734C>T	p.Pro245Leu	Missense	3/3	-
17-28548810-C-G	SLC6A4	c.167G>C	p.Gly56Ala	Missense	3/15	-
1-100661842-T-C	DBT	c.1418A>G	p.Asn473Ser	Missense	11/11	-
19-1000785-C-T	GRIN3B	c.349C>T	p.His117Tyr	Missense	1/9	-
X-91518138-G-A	PCDH11X	c.3114+61684G>A	-	IntronicSNV	-	3/5
11-89531543-C-T	TRIM49	c.1114G>A	p.Asp372Asn	Missense	8/8	-
13-25021263-T-A	PARP4	c.3176A>T	p.Gln1059Leu	Missense	26/34	-
11-44069719-G-A	ACCSL	c.133G>A	p.Val45Met	Missense	1/14	-
4-8418148-T-G	ACOX3	c.101A>C	p.Glu34Ala	Missense	2/17	-
11-123814145-G-T	OR6T1	c.401C>A	p.Thr134Asn	Missense	1/1	-
19-41354533-A-T	CYP2A6	c.479T>A	p.Leu160His	Missense	3/9	-
8-144789973-C-A	CCDC166	c.307G>T	p.Ala103Ser	Missense	1/2	-
8-144789973-C-T	CCDC166	c.307G>A	p.Ala103Thr	Missense	1/2	-
9-138456155-C-T	PAEP	c.376C>T	p.Gln126*	Nonsense	4/7	-
9-138456155-C-A	PAEP	c.376C>A	p.Gln126Lys	Missense	4/7	-
2-209302328-C-A	PTH2R	c.245C>A	p.Ser82*	Nonsense	3/13	-
1-161736209-T-C	ATF6	c.59T>C	p.Phe20Ser	Missense	1/16	-
22-27019264-G-A	CRYBA4	c.106G>A	p.Val36Met	Missense	3/6	-
6-111983038-G-C	FYN	c.1518C>G	p.Asp506Glu	Missense	14/14	-
1-12885195-C-T	PRAMEF11	c.916G>A	p.Glu306Lys	Missense	5/5	-
1-152284558-C-G	FLG	c.2804G>C	p.Gly935Ala	Missense	3/3	-
1-152284558-C-T	FLG	c.2804G>A	p.Gly935Glu	Missense	3/3	-
X-47705674-C-T	ZNF81	c.8C>T	p.Ala3Val	Missense	2/5	-
8-121530092-C-T	MTBP	c.2248C>T	p.Leu750Phe	Missense	19/22	-
8-139164185-T-G	FAM135B	c.2533A>C	p.Ile845Leu	Missense	13/20	-
18-44181227-C-T	LOXHD1	c.1087G>A	p.Val363Ile	Missense	8/40	-
1-17281235-G-A	CROCC	c.3328G>A	p.Val1110Met	Missense	23/37	-
7-28995803-G-A	TRIL	c.1860C>T	p.Phe620Phe	Synonymous	3/3	-
3-48626832-C-T	COL7A1	c.2242G>A	p.Glu748Lys	Missense	17/118	-
11-1017552-T-C	MUC6	c.5249A>G	p.His1750Arg	Missense	31/33	-
7-2649765-C-T	IQCE	c.2057C>T	p.Pro686Leu	Missense	22/22	-
1-45276242-C-T	BTBD19	c.317C>T	p.Thr106Ile	Missense	3/8	-
16-5077157-C-G	NAGPA	c.1319G>C	p.Gly440Ala	Missense	9/10	-
7-100678610-A-T	MUC17	c.3913A>T	p.Thr1305Ser	Missense	3/13	-
7-63674464-T-C	ZNF735	c.240T>C	p.Asn80Asn	Synonymous	3/4	-
11-123894234-A-G	OR10G9	c.515A>G	p.Gln172Arg	Missense	1/1	-
12-7252506-C-T	C1RL	c.607G>A	p.Ala203Thr	Missense	4/6	-
9-39171471-C-A	CNTNAP3	c.1228G>T	p.Gly410Cys	Missense	8/24	-
X-135956467-C-T	RBMX	c.1010G>A	p.Ser337Asn	Missense	9/9	-
2-239162038-A-G	PER2	c.2626T>C	p.Phe876Leu	Missense	19/23	-
7-100683036-T-C	MUC17	c.8339T>C	p.Ile2780Thr	Missense	3/13	-
8-144885597-G-A	SCRIB	c.3559C>T	p.Leu1187Leu	Synonymous	24/36	-
7-100678610-A-G	MUC17	c.3913A>G	p.Thr1305Ala	Missense	3/13	-
19-40541039-C-A	ZNF780B	c.1727G>T	p.Arg576Leu	Missense	5/5	-
X-44091831-C-T	EFHC2	c.1516G>A	p.Glu506Lys	Missense	10/15	-
10-28023688-C-T	MKX	c.535G>A	p.Glu179Lys	Missense	5/7	-
1-24402675-T-G	MYOM3	c.2675A>C	p.Asp892Ala	Missense	21/37	-
1-12921600-C-G	PRAMEF2	c.1391C>G	p.Pro464Arg	Missense	4/4	-
19-40519905-G-A	ZNF546	c.728G>A	p.Arg243Lys	Missense	7/7	-
14-24534916-G-T	CARMIL3	c.3482G>T	p.Gly1161Val	Missense	34/40	-
16-1258033-G-T	CACNA1H	c.3175G>T	p.Ala1059Ser	Missense	16/34	-
6-46827239-C-T	ADGRF5	c.2401G>A	p.Val801Ile	Missense	17/21	-
3-12192749-G-C	SYN2	c.321G>C	p.Trp107Cys	Missense	2/14	-
19-14043864-C-T	PODNL1	c.1193G>A	p.Arg398His	Missense	8/8	-
13-61989290-A-G	PCDH20	c.2T>C	p.Met1Thr	Missense	1/2	-
12-110960196-G-A	RAD9B	c.1105G>A	p.Gly369Arg	Missense	10/12	-
1-12856111-C-T	PRAMEF1	c.1391C>T	p.Pro464Leu	Missense	4/4	-
1-12856111-C-G	PRAMEF1	c.1391C>G	p.Pro464Arg	Missense	4/4	-
15-29421054-C-T	FAM189A1	c.941G>A	p.Gly314Asp	Missense	8/11	-
16-3708192-C-T	TRAP1	c.2053G>A	p.Asp685Asn	Missense	18/18	-
22-30197031-T-A	ASCC2	c.1637A>T	p.Asp546Val	Missense	15/20	-
22-30197031-T-C	ASCC2	c.1637A>G	p.Asp546Gly	Missense	15/20	-
14-73729498-G-A	PAPLN	c.2605G>A	p.Gly869Arg	Missense	18/26	-
7-6189373-C-T	USP42	c.1546C>T	p.His516Tyr	Missense	13/18	-
12-53238347-G-C	KRT78	c.917C>G	p.Thr306Ser	Missense	5/9	-
3-42567381-C-A	VIPR1	c.295C>A	p.Arg99Ser	Missense	4/13	-
10-102239656-T-C	WNT8B	c.128T>C	p.Val43Ala	Missense	3/6	-
12-53238347-G-A	KRT78	c.917C>T	p.Thr306Ile	Missense	5/9	-
19-43244485-G-T	PSG3	c.52C>A	p.Leu18Ile	Missense	1/7	-
7-100678481-A-T	MUC17	c.3784A>T	p.Thr1262Ser	Missense	3/13	-
12-8612294-G-C	CLEC6A	c.223G>C	p.Ala75Pro	Missense	3/6	-
1-75037007-C-G	ERICH3	c.4387G>C	p.Asp1463His	Missense	14/15	-
7-100677285-G-A	MUC17	c.2588G>A	p.Gly863Glu	Missense	3/13	-
1-20960385-A-T	PINK1	c.344A>T	p.Gln115Leu	Missense	1/8	-
1-42045770-G-A	HIVEP3	c.4699C>T	p.Pro1567Ser	Missense	4/9	-
22-50682234-C-T	TUBGCP6	c.655G>A	p.Val219Met	Missense	1/25	-
19-43530473-G-C	PSG11	c.52C>G	p.Leu18Val	Missense	1/6	-
19-59022243-C-T	SLC27A5	c.743G>A	p.Arg248His	Missense	2/10	-
X-65253352-C-T	VSIG4	c.376G>A	p.Val126Met	Missense	2/8	-
1-233802497-G-T	KCNK1	c.512G>T	p.Arg171Leu	Missense	2/3	-
9-2039793-A-C	SMARCA2	c.683A>C	p.Gln228Pro	Missense	4/34	-
7-151478406-C-T	PRKAG2	c.298G>A	p.Gly100Ser	Missense	3/16	-
2-223339437-A-G	SGPP2	c.370A>G	p.Ile124Val	Missense	2/5	-
11-55904828-A-G	OR8J3	c.367T>C	p.Tyr123His	Missense	1/1	-
19-56001665-C-A	SSC5D	c.476C>A	p.Ala159Asp	Missense	5/14	-
7-76240888-A-G	POMZP3	c.458T>C	p.Leu153Pro	Missense	6/7	-
19-501701-G-A	MADCAM1	c.700G>A	p.Asp234Asn	Missense	4/5	-
3-128695828-G-A	KIAA1257	c.890C>T	p.Thr297Met	Missense	6/8	-
22-50682234-C-A	TUBGCP6	c.655G>T	p.Val219Leu	Missense	1/25	-
7-100677704-C-G	MUC17	c.3007C>G	p.Leu1003Val	Missense	3/13	-
X-26157773-A-G	MAGEB18	c.671A>G	p.Asn224Ser	Missense	2/3	-
19-51986547-A-G	CEACAM18	c.950A>G	p.His317Arg	Missense	4/6	-
7-150389594-G-T	GIMAP2	c.220G>T	p.Val74Phe	Missense	3/3	-
X-153420176-A-T	OPN1LW	c.706A>T	p.Met236Leu	Missense	4/6	-
X-153420176-A-C	OPN1LW	c.706A>C	p.Met236Leu	Missense	4/6	-
2-69093439-G-C	BMP10	c.599C>G	p.Thr200Ser	Missense	2/2	-
5-109963482-C-T	TMEM232	c.601G>A	p.Ala201Thr	Missense	6/14	-
17-34893655-C-T	PIGW	c.705C>T	p.His235His	Synonymous	2/2	-
22-32630990-C-T	SLC5A4	c.755G>A	p.Ser252Asn	Missense	8/15	-
17-34893655-C-G	PIGW	c.705C>G	p.His235Gln	Missense	2/2	-
1-222801661-A-T	MIA3	c.1099A>T	p.Thr367Ser	Missense	4/28	-
11-51516191-G-A	OR4C46	c.910G>A	p.Asp304Asn	Missense	1/1	-
20-60878683-A-G	ADRM1	c.59A>G	p.Asn20Ser	Missense	2/9	-
5-23527565-A-C	PRDM9	c.2368A>C	p.Asn790His	Missense	11/11	-
11-51516191-G-T	OR4C46	c.910G>T	p.Asp304Tyr	Missense	1/1	-
11-26718732-C-A	SLC5A12	c.1019G>T	p.Cys340Phe	Missense	8/15	-
4-120528064-A-C	PDE5A	c.541T>G	p.Ser181Ala	Missense	2/21	-
3-195512726-C-T	MUC4	c.5725G>A	p.Asp1909Asn	Missense	2/25	-
14-25076906-C-T	GZMH	c.251G>A	p.Arg84Gln	Missense	3/5	-
3-195508046-C-G	MUC4	c.10405G>C	p.Asp3469His	Missense	2/25	-
19-9002504-T-C	MUC16	c.40312A>G	p.Asn13438Asp	Missense	51/84	-
14-25076906-C-G	GZMH	c.251G>C	p.Arg84Pro	Missense	3/5	-
9-139841132-G-A	C8G	c.586G>A	p.Val196Ile	Missense	6/7	-
X-54978373-C-T	PFKFB1	c.745G>A	p.Gly249Arg	Missense	8/14	-
15-24921115-C-A	NPAP1	c.101C>A	p.Pro34Gln	Missense	1/1	-
7-6844574-C-G	CCZ1B	c.1101G>C	p.Met367Ile	Missense	12/15	-
7-6844574-C-T	CCZ1B	c.1101G>A	p.Met367Ile	Missense	12/15	-
19-58421128-C-A	ZNF417	c.518G>T	p.Arg173Leu	Missense	3/3	-
5-140347703-C-T	PCDHAC1	c.2434-10831C>T	-	IntronicSNV	-	1/3
3-179408054-C-T	USP13	c.320C>T	p.Ala107Val	Missense	3/21	-
12-52681925-A-T	KRT81	c.743T>A	p.Leu248His	Missense	5/9	-
7-6449794-A-G	DAGLB	c.1787T>C	p.Ile596Thr	Missense	14/15	-
9-131020436-C-G	GOLGA2	c.2250G>C	p.Glu750Asp	Missense	22/26	-
14-105415748-G-A	AHNAK2	c.6040C>T	p.Pro2014Ser	Missense	7/7	-
3-98217178-T-A	OR5K2	c.654T>A	p.Tyr218*	Nonsense	1/1	-
7-6844574-C-A	CCZ1B	c.1101G>T	p.Met367Ile	Missense	12/15	-
11-44331309-G-A	ALX4	c.304C>T	p.Pro102Ser	Missense	1/4	-
3-195517183-G-A	MUC4	c.1268C>T	p.Ser423Phe	Missense	2/25	-
12-52681925-A-C	KRT81	c.743T>G	p.Leu248Arg	Missense	5/9	-
12-38714242-G-A	ALG10B	c.649G>A	p.Glu217Lys	Missense	3/3	-
4-190876204-G-A	FRG1	c.330G>A	p.Lys110Lys	Synonymous	5/9	-
19-9009640-C-T	MUC16	c.39086G>A	p.Arg13029His	Missense	39/84	-
7-34125551-A-G	BMPER	c.1592A>G	p.Asn531Ser	Missense	14/16	-
1-12854479-C-G	PRAMEF1	c.703C>G	p.Arg235Gly	Missense	3/4	-
7-34125551-A-T	BMPER	c.1592A>T	p.Asn531Ile	Missense	14/16	-
19-45315445-G-C	BCAM	c.230G>C	p.Arg77Pro	Missense	3/15	-
19-45315445-G-A	BCAM	c.230G>A	p.Arg77His	Missense	3/15	-
1-12854479-C-T	PRAMEF1	c.703C>T	p.Arg235Cys	Missense	3/4	-
1-63999234-G-C	EFCAB7	c.596G>C	p.Gly199Ala	Missense	5/14	-
7-29132279-A-G	CPVL	c.502T>C	p.Tyr168His	Missense	6/13	-
3-27436597-G-A	SLC4A7	c.2686C>T	p.Pro896Ser	Missense	19/25	-
3-137717744-G-A	CLDN18	c.34G>A	p.Val12Met	Missense	1/5	-
1-232564162-T-C	SIPA1L2	c.4405A>G	p.Arg1469Gly	Missense	15/21	-
7-143021535-C-T	CLCN1	c.803C>T	p.Thr268Met	Missense	7/23	-
16-30566747-G-A	ZNF764	c.995C>T	p.Ala332Val	Missense	3/3	-
21-15873026-T-C	SAMSN1	c.796A>G	p.Thr266Ala	Missense	7/9	-
1-16895586-T-G	NBPF1	c.2596A>C	p.Met866Leu	Missense	23/28	-
19-51918135-G-A	SIGLEC10	c.1558C>T	p.Arg520Cys	Missense	8/11	-
19-51918135-G-T	SIGLEC10	c.1558C>A	p.Arg520Ser	Missense	8/11	-
16-67003618-C-T	CES3	c.1099C>T	p.Arg367Trp	Missense	9/13	-
8-139628282-T-C	COL22A1	c.3886A>G	p.Met1296Val	Missense	55/65	-
21-46020721-G-A	TSPEAR	c.83-32832C>T	-	IntronicSNV	-	1/11
21-46020721-G-C	TSPEAR	c.83-32832C>G	-	IntronicSNV	-	1/11
11-1267960-A-T	MUC5B	c.9850A>T	p.Thr3284Ser	Missense	31/49	-
7-30649252-G-A	GARS	c.787G>A	p.Val263Ile	Missense	7/17	-
11-556531-C-T	LMNTD2	c.1034G>A	p.Cys345Tyr	Missense	9/14	-
16-28603393-T-C	SULT1A2	c.844A>G	p.Lys282Glu	Missense	8/8	-
6-33690691-C-G	IP6K3	c.1039G>C	p.Glu347Gln	Missense	6/6	-
3-124567186-G-A	ITGB5	c.581C>T	p.Ala194Val	Missense	4/15	-
10-70992634-C-G	HKDC1	c.341C>G	p.Thr114Arg	Missense	3/18	-
5-140503237-A-G	PCDHB4	c.1657A>G	p.Thr553Ala	Missense	1/1	-
12-72092865-T-G	TMEM19	c.823T>G	p.Leu275Val	Missense	5/6	-
10-50824106-C-T	CHAT	c.287-442C>T	-	IntronicSNV	-	1/14
5-13902177-A-C	DNAH5	c.1715T>G	p.Leu572Trp	Missense	13/79	-
1-248224746-G-A	OR2L3	c.763G>A	p.Val255Ile	Missense	1/1	-
1-248224746-G-T	OR2L3	c.763G>T	p.Val255Phe	Missense	1/1	-
5-167474474-A-G	TENM2	c.1229A>G	p.Asp410Gly	Missense	7/30	-
6-33690691-C-T	IP6K3	c.1039G>A	p.Glu347Lys	Missense	6/6	-
20-1895889-G-C	SIRPA	c.224G>C	p.Gly75Ala	Missense	3/9	-
21-47552389-G-A	COL6A2	c.2983G>A	p.Ala995Thr	Missense	28/28	-
21-47552389-G-C	COL6A2	c.2983G>C	p.Ala995Pro	Missense	28/28	-
X-49957346-G-C	AKAP4	c.2018C>G	p.Ala673Gly	Missense	5/6	-
X-49957346-G-A	AKAP4	c.2018C>T	p.Ala673Val	Missense	5/6	-
1-169510348-T-C	F5	c.3980A>G	p.His1327Arg	Missense	13/25	-
19-15905529-C-A	OR10H5	c.671C>A	p.Ala224Asp	Missense	1/1	-
9-21206605-C-G	IFNA10	c.492G>C	p.Trp164Cys	Missense	1/1	-
7-148950691-G-A	ZNF212	c.673G>A	p.Glu225Lys	Missense	5/5	-
8-11996086-G-A	USP17L2	c.184C>T	p.Leu62Phe	Missense	1/1	-
2-215815751-T-G	ABCA12	c.6704A>C	p.Glu2235Ala	Missense	45/53	-
11-1016795-C-T	MUC6	c.6006G>A	p.Gln2002Gln	Synonymous	31/33	-
2-241621869-G-A	AQP12B	c.386C>T	p.Thr129Met	Missense	1/3	-
8-110447512-G-A	PKHD1L1	c.3434G>A	p.Gly1145Glu	Missense	29/78	-
18-13826417-G-A	MC5R	c.653G>A	p.Arg218Gln	Missense	2/2	-
20-36640870-C-T	TTI1	c.1349G>A	p.Arg450His	Missense	3/9	-
5-140554484-G-T	PCDHB7	c.2068G>T	p.Val690Leu	Missense	1/1	-
8-110447512-G-C	PKHD1L1	c.3434G>C	p.Gly1145Ala	Missense	29/78	-
8-110447512-G-T	PKHD1L1	c.3434G>T	p.Gly1145Val	Missense	29/78	-
14-45665661-A-G	FANCM	c.5627A>G	p.Asn1876Ser	Missense	21/23	-
14-45665661-A-C	FANCM	c.5627A>C	p.Asn1876Thr	Missense	21/23	-
1-12941742-G-A	PRAMEF4	c.808C>T	p.Arg270Cys	Missense	3/4	-
5-81608561-C-G	ATP6AP1L	c.263C>G	p.Ser88Cys	Missense	9/10	-
2-241631839-G-A	AQP12A	c.472G>A	p.Ala158Thr	Missense	2/4	-
22-50877170-C-T	PPP6R2	c.2026C>T	p.Pro676Ser	Missense	18/23	-
19-13869786-G-T	CCDC130	c.362G>T	p.Arg121Leu	Missense	7/10	-
20-36641366-C-T	TTI1	c.853G>A	p.Asp285Asn	Missense	3/9	-
18-47318626-T-C	ACAA2	c.649A>G	p.Met217Val	Missense	6/10	-
19-35449486-T-C	ZNF792	c.1273A>G	p.Asn425Asp	Missense	4/4	-
19-35449486-T-G	ZNF792	c.1273A>C	p.Asn425His	Missense	4/4	-
4-88766636-A-G	MEPE	c.616A>G	p.Ser206Gly	Missense	4/4	-
4-88766636-A-C	MEPE	c.616A>C	p.Ser206Arg	Missense	4/4	-
5-81608561-C-T	ATP6AP1L	c.263C>T	p.Ser88Phe	Missense	9/10	-
11-308314-T-G	IFITM2	c.122T>G	p.Met41Arg	Missense	1/2	-
3-125648209-C-T	ALG1L	c.550G>A	p.Gly184Ser	Missense	6/6	-
19-43865692-G-A	CD177	c.1042G>A	p.Ala348Thr	Missense	8/9	-
3-8675447-C-G	SSUH2	c.178G>C	p.Ala60Pro	Missense	4/12	-
21-45987884-G-A	TSPEAR	c.88C>T	p.Arg30Cys	Missense	2/12	-
3-8675447-C-T	SSUH2	c.178G>A	p.Ala60Thr	Missense	4/12	-
1-7998823-C-T	TNFRSF9	c.166G>A	p.Ala56Thr	Missense	3/8	-
X-65418789-G-A	HEPH	c.1945G>A	p.Ala649Thr	Missense	11/21	-
5-141021096-G-A	FCHSD1	c.2042C>T	p.Pro681Leu	Missense	20/20	-
7-34917768-G-A	NPSR1	c.1106G>A	p.Gly369Asp	Missense	9/9	-
8-139164185-T-C	FAM135B	c.2533A>G	p.Ile845Val	Missense	13/20	-
14-105407327-G-A	AHNAK2	c.14461C>T	p.Pro4821Ser	Missense	7/7	-
8-108334162-G-A	ANGPT1	c.770C>T	p.Thr257Ile	Missense	4/9	-
9-133901752-C-T	LAMC3	c.454C>T	p.Arg152Cys	Missense	2/28	-
8-10467605-C-T	RP1L1	c.4003G>A	p.Gly1335Arg	Missense	4/4	-
19-17337557-G-T	OCEL1	c.125G>T	p.Arg42Leu	Missense	2/6	-
8-108334162-G-C	ANGPT1	c.770C>G	p.Thr257Arg	Missense	4/9	-
16-72170408-C-T	PMFBP1	c.1142G>A	p.Arg381Gln	Missense	9/21	-
11-1267960-A-G	MUC5B	c.9850A>G	p.Thr3284Ala	Missense	31/49	-
7-100684550-A-C	MUC17	c.9853A>C	p.Ser3285Arg	Missense	3/13	-
7-100684550-A-T	MUC17	c.9853A>T	p.Ser3285Cys	Missense	3/13	-
2-167108385-C-G	SCN9A	c.3329G>C	p.Arg1110Pro	Missense	18/27	-
19-15996828-G-C	CYP4F2	c.1021C>G	p.Leu341Val	Missense	9/13	-
4-42551048-T-C	ATP8A1	c.1634A>G	p.Asn545Ser	Missense	19/37	-
1-161969986-G-A	OLFML2B	c.866C>T	p.Pro289Leu	Missense	5/8	-
1-220298664-A-G	IARS2	c.1726A>G	p.Lys576Glu	Missense	13/23	-
19-51602298-C-G	CTU1	c.607G>C	p.Glu203Gln	Missense	3/3	-
17-4844242-C-T	RNF167	c.38C>T	p.Ala13Val	Missense	2/10	-
6-26184102-G-T	HIST1H2BE	c.79G>T	p.Gly27Cys	Missense	1/1	-
17-74018597-T-C	EVPL	c.503A>G	p.Tyr168Cys	Missense	5/22	-
X-153420176-A-G	OPN1LW	c.706A>G	p.Met236Val	Missense	4/6	-
10-127462934-G-T	MMP21	c.163C>A	p.Arg55Arg	Synonymous	2/7	-
2-167108385-C-T	SCN9A	c.3329G>A	p.Arg1110Gln	Missense	18/27	-
14-105408827-A-G	AHNAK2	c.12961T>C	p.Leu4321Leu	Synonymous	7/7	-
1-16901710-C-G	NBPF1	c.2134G>C	p.Asp712His	Missense	20/28	-
1-16901710-C-T	NBPF1	c.2134G>A	p.Asp712Asn	Missense	20/28	-
3-194061810-C-A	CPN2	c.1622G>T	p.Arg541Leu	Missense	2/2	-
3-194061810-C-T	CPN2	c.1622G>A	p.Arg541Gln	Missense	2/2	-
19-55993260-A-C	ZNF628	c.700A>C	p.Thr234Pro	Missense	3/3	-
19-55993260-A-G	ZNF628	c.700A>G	p.Thr234Ala	Missense	3/3	-
7-45123090-G-A	NACAD	c.2689C>T	p.Pro897Ser	Missense	2/8	-
12-52967368-C-G	KRT74	c.194G>C	p.Gly65Ala	Missense	1/9	-
12-52967368-C-A	KRT74	c.194G>T	p.Gly65Val	Missense	1/9	-
12-52862928-C-G	KRT6C	c.1613G>C	p.Gly538Ala	Missense	9/9	-
X-24329812-G-C	SUPT20HL2	c.1621C>G	p.Leu541Val	Missense	1/1	-
X-24329812-G-A	SUPT20HL2	c.1621C>T	p.Leu541Phe	Missense	1/1	-
6-26184102-G-C	HIST1H2BE	c.79G>C	p.Gly27Arg	Missense	1/1	-
6-26184102-G-A	HIST1H2BE	c.79G>A	p.Gly27Ser	Missense	1/1	-
11-614212-C-T	IRF7	c.641G>A	p.Gly214Glu	Missense	6/11	-
9-34256375-G-A	KIF24	c.3230C>T	p.Thr1077Met	Missense	11/13	-
9-136081319-C-G	OBP2B	c.499G>C	p.Val167Leu	Missense	6/7	-
11-82444668-C-A	FAM181B	c.104G>T	p.Gly35Val	Missense	1/1	-
22-46793621-T-A	CELSR1	c.5651A>T	p.Asn1884Ile	Missense	12/35	-
19-11472138-T-A	PLPPR2	c.637T>A	p.Cys213Ser	Missense	6/10	-
17-74019453-G-A	EVPL	c.400C>T	p.Arg134Cys	Missense	4/22	-
14-105412260-G-A	AHNAK2	c.9528C>T	p.Asp3176Asp	Synonymous	7/7	-
22-46793621-T-C	CELSR1	c.5651A>G	p.Asn1884Ser	Missense	12/35	-
21-11049621-G-T	BAGE2	c.280C>A	p.Arg94Arg	Synonymous	4/10	-
19-22498942-G-C	ZNF729	c.2723G>C	p.Cys908Ser	Missense	4/4	-
10-76864700-A-G	DUSP13	c.*727T>C	-	IntronicSNV	8/8	-
9-126136139-C-T	CRB2	c.3329C>T	p.Thr1110Met	Missense	10/13	-
10-76864700-A-T	DUSP13	c.*727T>A	-	IntronicSNV	8/8	-
19-15905289-G-T	OR10H5	c.431G>T	p.Arg144Leu	Missense	1/1	-
8-10467637-T-C	RP1L1	c.3971A>G	p.Glu1324Gly	Missense	4/4	-
1-247151487-C-T	ZNF695	c.330G>A	p.Met110Ile	Missense	4/4	-
6-152464786-G-A	SYNE1	c.25091C>T	p.Pro8364Leu	Missense	138/146	-
19-15905289-G-A	OR10H5	c.431G>A	p.Arg144Gln	Missense	1/1	-
19-57839690-A-T	ZNF543	c.860A>T	p.Glu287Val	Missense	4/4	-
15-40544520-G-A	C15orf56	c.452C>T	p.Pro151Leu	Missense	2/2	-
11-124747467-C-T	ROBO3	c.2899C>T	p.Pro967Ser	Missense	20/28	-
3-132337477-C-A	ACAD11	c.1414+1G>T	-	IntronicSNV	-	11/19
9-40702760-T-G	SPATA31A3	c.417T>G	p.His139Gln	Missense	4/4	-
1-184853890-T-C	FAM129A	c.478A>G	p.Lys160Glu	Missense	5/14	-
5-178455114-A-G	ZNF879	c.242A>G	p.Gln81Arg	Missense	4/5	-
20-1629930-C-T	SIRPG	c.198G>A	p.Trp66*	Nonsense	2/6	-
3-39230740-C-T	XIRP1	c.197G>A	p.Arg66His	Missense	2/2	-
5-140604564-G-C	PCDHB14	c.1487G>C	p.Arg496Pro	Missense	1/1	-
5-140604564-G-A	PCDHB14	c.1487G>A	p.Arg496Gln	Missense	1/1	-
6-117715395-C-G	ROS1	c.1094G>C	p.Gly365Ala	Missense	10/43	-
2-128937391-A-G	UGGT1	c.3847A>G	p.Lys1283Glu	Missense	35/41	-
4-57180563-G-C	KIAA1211	c.895G>C	p.Gly299Arg	Missense	8/11	-
5-140604564-G-T	PCDHB14	c.1487G>T	p.Arg496Leu	Missense	1/1	-
16-70694056-C-T	IL34	c.695C>T	p.Pro232Leu	Missense	7/7	-
11-65629482-G-C	MUS81	c.416G>C	p.Arg139Pro	Missense	4/16	-
11-65629482-G-T	MUS81	c.416G>T	p.Arg139Leu	Missense	4/16	-
6-117715395-C-T	ROS1	c.1094G>A	p.Gly365Asp	Missense	10/43	-
1-160057522-C-T	KCNJ9	c.1097C>T	p.Ala366Val	Missense	3/3	-
4-126412106-C-G	FAT4	c.14129C>G	p.Ser4710Cys	Missense	17/17	-
13-31540447-C-A	TEX26	c.558C>A	p.Tyr186*	Nonsense	5/7	-
3-132337477-C-T	ACAD11	c.1414+1G>A	-	IntronicSNV	-	11/19
22-17288789-G-A	XKR3	c.175C>T	p.Arg59*	Nonsense	2/4	-
22-17288789-G-C	XKR3	c.175C>G	p.Arg59Gly	Missense	2/4	-
22-17288789-G-T	XKR3	c.175C>A	p.Arg59Arg	Synonymous	2/4	-
14-23519131-C-T	CDH24	c.1499G>A	p.Arg500His	Missense	10/14	-
19-56543982-G-A	NLRP5	c.2282G>A	p.Arg761Gln	Missense	8/15	-
19-56543982-G-T	NLRP5	c.2282G>T	p.Arg761Leu	Missense	8/15	-
1-152081623-T-C	TCHH	c.4070A>G	p.Glu1357Gly	Missense	3/3	-
3-195509515-T-G	MUC4	c.8936A>C	p.Asp2979Ala	Missense	2/25	-
3-107491892-G-A	BBX	c.1324G>A	p.Ala442Thr	Missense	11/17	-
17-37785810-C-G	PPP1R1B	c.160C>G	p.His54Asp	Missense	3/7	-
17-37785810-C-A	PPP1R1B	c.160C>A	p.His54Asn	Missense	3/7	-
3-195509515-T-A	MUC4	c.8936A>T	p.Asp2979Val	Missense	2/25	-
3-195509515-T-C	MUC4	c.8936A>G	p.Asp2979Gly	Missense	2/25	-
16-4165439-G-T	ADCY9	c.5C>A	p.Ala2Asp	Missense	2/11	-
10-76864700-A-C	DUSP13	c.*727T>G	-	IntronicSNV	8/8	-
12-110474070-T-C	ANKRD13A	c.1514T>C	p.Leu505Pro	Missense	14/15	-
7-63674464-T-G	ZNF735	c.240T>G	p.Asn80Lys	Missense	3/4	-
1-113162494-G-C	CAPZA1	c.28G>C	p.Asp10His	Missense	1/10	-
1-113162494-G-A	CAPZA1	c.28G>A	p.Asp10Asn	Missense	1/10	-
12-110960196-G-T	RAD9B	c.1105G>T	p.Gly369Trp	Missense	10/12	-
15-43250212-T-C	UBR1	c.4834A>G	p.Arg1612Gly	Missense	44/47	-
X-24329701-C-T	SUPT20HL2	c.1732G>A	p.Val578Met	Missense	1/1	-
3-16926642-A-T	PLCL2	c.104A>T	-	missense_variant	4/9	-
3-16926642-A-G	PLCL2	c.104A>G	-	missense_variant	4/9	-
21-47581949-C-G	SPATC1L	c.115G>C	p.Ala39Pro	Missense	3/4	-
19-56001665-C-T	SSC5D	c.476C>T	p.Ala159Val	Missense	5/14	-
6-1313117-A-C	FOXQ1	c.178A>C	p.Thr60Pro	Missense	1/1	-
1-17287301-A-G	CROCC	c.4081A>G	p.Thr1361Ala	Missense	27/37	-
19-45322904-C-G	BCAM	c.1684C>G	p.Leu562Val	Missense	13/15	-
19-45322904-C-A	BCAM	c.1684C>A	p.Leu562Ile	Missense	13/15	-
19-45322904-C-T	BCAM	c.1684C>T	p.Leu562Phe	Missense	13/15	-
6-158492660-C-T	SYNJ2	c.1967C>T	p.Thr656Met	Missense	15/27	-
12-11461549-G-C	PRB4	c.368C>G	p.Pro123Arg	Missense	3/4	-
14-105414343-C-T	AHNAK2	c.7445G>A	p.Arg2482Lys	Missense	7/7	-
6-170627739-G-T	FAM120B	c.1261G>T	p.Ala421Ser	Missense	2/11	-
6-170627739-G-C	FAM120B	c.1261G>C	p.Ala421Pro	Missense	2/11	-
3-33893987-A-G	PDCD6IP	c.1664A>G	p.Asn555Ser	Missense	13/18	-
4-175414330-C-G	HPGD	c.634G>C	p.Asp212His	Missense	6/7	-
11-62298068-A-G	AHNAK	c.342+4407T>C	-	IntronicSNV	-	4/5
19-991129-G-A	WDR18	c.790G>A	p.Val264Ile	Missense	6/10	-
9-139925383-C-T	FUT7	c.808G>A	p.Ala270Thr	Missense	2/2	-
6-116575116-G-T	TSPYL4	c.56C>A	p.Ala19Asp	Missense	1/1	-
6-116575116-G-A	TSPYL4	c.56C>T	p.Ala19Val	Missense	1/1	-
17-8402755-T-C	MYH10	c.3784A>G	p.Thr1262Ala	Missense	30/43	-
19-58421128-C-T	ZNF417	c.518G>A	p.Arg173His	Missense	3/3	-
22-38119869-G-A	TRIOBP	c.1306G>A	p.Asp436Asn	Missense	7/24	-
2-159672251-C-A	DAPL1	c.242C>A	p.Ala81Glu	Missense	4/4	-
21-47581949-C-T	SPATC1L	c.115G>A	p.Ala39Thr	Missense	3/4	-
2-27726437-A-C	GCKR	c.701A>C	p.Gln234Pro	Missense	9/19	-
6-138768300-A-C	NHSL1	c.514T>G	p.Phe172Val	Missense	4/7	-
2-122176275-A-C	CLASP1	c.2243T>G	p.Met748Arg	Missense	23/40	-
11-1269215-C-G	MUC5B	c.11105C>G	p.Thr3702Arg	Missense	31/49	-
2-122176275-A-G	CLASP1	c.2243T>C	p.Met748Thr	Missense	23/40	-
5-140567187-A-G	PCDHB9	c.295A>G	p.Lys99Glu	Missense	1/2	-
14-105408827-A-T	AHNAK2	c.12961T>A	p.Leu4321Met	Missense	7/7	-
1-236180498-C-T	NID1	c.2204G>A	p.Arg735His	Missense	10/20	-
19-21131571-A-G	ZNF85	c.251A>G	p.Gln84Arg	Missense	4/4	-
3-123440977-T-G	MYLK	c.1802A>C	p.His601Pro	Missense	13/34	-
1-12856010-C-G	PRAMEF1	c.1290C>G	p.Phe430Leu	Missense	4/4	-
18-9944924-A-G	VAPA	c.421A>G	p.Ile141Val	Missense	5/7	-
6-170627691-T-A	FAM120B	c.1213T>A	p.Ser405Thr	Missense	2/11	-
15-83502066-C-T	WHAMM	c.2208C>T	p.His736His	Synonymous	10/10	-
6-132909838-G-A	TAAR5	c.988C>T	p.Arg330Cys	Missense	1/1	-
16-72170408-C-A	PMFBP1	c.1142G>T	p.Arg381Leu	Missense	9/21	-
3-66431144-T-G	LRIG1	c.2912A>C	p.Asp971Ala	Missense	18/19	-
11-4615857-G-A	OR52I1	c.589G>A	p.Val197Met	Missense	1/1	-
3-66431144-T-C	LRIG1	c.2912A>G	p.Asp971Gly	Missense	18/19	-
3-66431144-T-A	LRIG1	c.2912A>T	p.Asp971Val	Missense	18/19	-
17-27963141-T-C	SSH2	c.2026A>G	p.Met676Val	Missense	14/15	-
1-152636843-A-G	LCE2D	c.262A>G	p.Ser88Gly	Missense	2/2	-
6-111983038-G-A	FYN	c.1518C>T	p.Asp506Asp	Synonymous	14/14	-
3-195512767-T-G	MUC4	c.5684A>C	p.Asn1895Thr	Missense	2/25	-
19-42861084-G-A	MEGF8	c.4580G>A	p.Arg1527His	Missense	26/41	-
15-34647972-C-T	NUTM1	c.1679C>T	p.Pro560Leu	Missense	8/8	-
4-110865150-G-C	EGF	c.662G>C	p.Arg221Thr	Missense	4/23	-
19-41709438-G-A	CYP2S1	c.1060G>A	p.Asp354Asn	Missense	7/9	-
10-31810514-A-G	ZEB1	c.2251A>G	p.Thr751Ala	Missense	7/9	-
4-140188094-C-T	MGARP	c.382G>A	p.Ala128Thr	Missense	4/4	-
9-98638273-C-G	ERCC6L2	c.1-15C>G	-	5-UTRSNV	1/14	-
1-17292975-G-A	CROCC	c.4769G>A	p.Arg1590His	Missense	30/37	-
11-6048456-G-A	OR56A1	c.479C>T	p.Ala160Val	Missense	1/1	-
17-34891060-C-G	MYO19	c.-747G>C	-	intergenic_variant	1/22	-
17-5442790-C-T	NLRP1	c.2815G>A	p.Val939Met	Missense	7/17	-
17-5442790-C-A	NLRP1	c.2815G>T	p.Val939Leu	Missense	7/17	-
3-195512597-G-A	MUC4	c.5854C>T	p.Pro1952Ser	Missense	2/25	-
11-4616119-T-C	OR52I1	c.851T>C	p.Leu284Pro	Missense	1/1	-
4-184572218-G-A	RWDD4	c.282C>T	p.Thr94Thr	Synonymous	4/8	-
20-61288593-G-A	SLCO4A1	c.787G>A	p.Val263Ile	Missense	2/12	-
18-56651514-G-C	ZNF532	c.3722G>C	p.Gly1241Ala	Missense	11/11	-
2-179549131-C-T	TTN	c.28916G>A	p.Arg9639Lys	Missense	129/312	-
20-36982754-G-A	LBP	c.439G>A	p.Glu147Lys	Missense	4/15	-
2-233244930-G-T	ALPP	c.692G>T	p.Arg231Leu	Missense	6/11	-
11-118352736-C-A	KMT2A	c.3941C>A	p.Pro1314Gln	Missense	7/36	-
4-88583745-G-A	DMP1	c.767G>A	p.Arg256His	Missense	5/5	-
11-118352736-C-T	KMT2A	c.3941C>T	p.Pro1314Leu	Missense	7/36	-
1-11907648-C-T	NPPA	c.94G>A	p.Val32Met	Missense	1/3	-
4-128811117-G-C	PLK4	c.1460G>C	p.Trp487Ser	Missense	6/15	-
11-8009015-C-T	EIF3F	c.116C>T	p.Pro39Leu	Missense	1/8	-
2-130951949-G-A	TUBA3E	c.466C>T	p.Arg156Trp	Missense	4/5	-
5-145379844-G-C	SH3RF2	c.602G>C	p.Arg201Pro	Missense	3/10	-
5-145379844-G-A	SH3RF2	c.602G>A	p.Arg201Gln	Missense	3/10	-
17-4806052-C-G	CHRNE	c.53G>C	p.Gly18Ala	Missense	2/12	-
1-12726036-C-G	AADACL4	c.514C>G	p.His172Asp	Missense	4/4	-
1-12726036-C-T	AADACL4	c.514C>T	p.His172Tyr	Missense	4/4	-
11-3681054-G-A	ART1	c.305G>A	p.Arg102His	Missense	3/5	-
5-109756435-C-T	TMEM232	c.1820G>A	p.Arg607Gln	Missense	14/14	-
19-54744799-G-C	LILRA6	c.863C>G	p.Pro288Arg	Missense	5/8	-
4-128748467-G-A	HSPA4L	c.2054G>A	p.Gly685Asp	Missense	17/19	-
5-55237432-A-C	IL6ST	c.2235T>G	p.Asp745Glu	Missense	17/17	-
16-2025080-G-A	TBL3	c.616G>A	p.Asp206Asn	Missense	7/22	-
7-17378917-A-G	AHR	c.1468A>G	p.Met490Val	Missense	10/11	-
16-84256128-C-T	KCNG4	c.1255G>A	p.Val419Met	Missense	3/3	-
9-125620365-C-T	RC3H2	c.2291G>A	p.Cys764Tyr	Missense	13/18	-
5-41018798-A-G	MROH2B	c.2668T>C	p.Phe890Leu	Missense	26/42	-
2-238289984-C-G	COL6A3	c.1471G>C	p.Asp491His	Missense	5/44	-
18-658170-G-T	TYMSOS	c.78C>A	p.Tyr26*	Nonsense	1/2	-
4-13616104-T-C	BOD1L1	c.890A>G	p.His297Arg	Missense	4/26	-
12-9317784-A-G	PZP	c.2438T>C	p.Val813Ala	Missense	19/36	-
2-233244930-G-C	ALPP	c.692G>C	p.Arg231Pro	Missense	6/11	-
2-233244930-G-A	ALPP	c.692G>A	p.Arg231His	Missense	6/11	-
18-658170-G-C	TYMSOS	c.78C>G	p.Tyr26*	Nonsense	1/2	-
X-135960119-C-T	RBMX	c.343G>A	p.Gly115Arg	Missense	4/9	-
22-42523528-C-T	CYP2D6	c.1094G>A	p.Arg365His	Missense	7/9	-
2-31215798-C-T	GALNT14	c.205G>A	p.Val69Ile	Missense	2/15	-
2-179594107-G-T	TTN	c.15044C>A	p.Thr5015Asn	Missense	61/312	-
15-86311459-C-A	KLHL25	c.1583G>T	p.Arg528Leu	Missense	2/3	-
15-86311459-C-T	KLHL25	c.1583G>A	p.Arg528His	Missense	2/3	-
14-104194228-A-C	ZFYVE21	c.335A>C	p.Lys112Thr	Missense	3/7	-
16-1291622-A-G	TPSAB1	c.421A>G	p.Thr141Ala	Missense	4/6	-
9-130506916-C-T	SH2D3C	c.1256G>A	p.Arg419His	Missense	6/11	-
8-11990314-G-A	USP17L7	c.1205C>T	p.Pro402Leu	Missense	1/1	-
19-17036087-C-T	CPAMD8	c.3466G>A	-	missense_variant	26/42	-
17-74300497-G-T	QRICH2	c.206C>A	p.Ala69Glu	Missense	3/19	-
19-36530562-T-C	THAP8	c.335A>G	p.Lys112Arg	Missense	3/4	-
7-42005678-G-C	GLI3	c.2993C>G	p.Pro998Arg	Missense	15/15	-
17-7320874-C-T	NLGN2	c.2264C>T	p.Ala755Val	Missense	7/7	-
22-46652736-C-T	PKDREJ	c.6484G>A	p.Val2162Ile	Missense	1/1	-
11-5842329-T-G	OR52N2	c.764T>G	p.Val255Gly	Missense	1/1	-
7-33028165-G-T	FKBP9	c.940G>T	p.Val314Leu	Missense	6/10	-
15-33261185-G-T	FMN1	c.2048C>A	p.Pro683Gln	Missense	4/17	-
17-38975328-G-T	KRT10	c.1459C>A	p.His487Asn	Missense	7/8	-
7-4830463-G-A	AP5Z1	c.2098G>A	p.Val700Met	Missense	16/17	-
2-71738977-G-A	DYSF	c.383G>A	p.Gly128Glu	Missense	5/55	-
19-45322624-C-T	BCAM	c.1495C>T	p.Arg499Trp	Missense	12/15	-
19-45322624-C-A	BCAM	c.1495C>A	p.Arg499Arg	Synonymous	12/15	-
4-145040839-C-T	GYPA	c.232G>A	p.Gly78Arg	Missense	3/7	-
17-48542714-G-T	CHAD	c.1025C>A	p.Ala342Asp	Missense	3/4	-
22-42523528-C-G	CYP2D6	c.1094G>C	p.Arg365Pro	Missense	7/9	-
1-171179939-G-T	FMO2	c.*1655G>T	-	3_prime_UTR_variant	9/9	-
12-11244149-G-A	TAS2R43	c.680C>T	p.Ala227Val	Missense	1/1	-
1-24402675-T-A	MYOM3	c.2675A>T	p.Asp892Val	Missense	21/37	-
5-178507004-A-T	ZNF354C	c.1571A>T	p.Tyr524Phe	Missense	5/5	-
7-45123823-T-G	NACAD	c.1956A>C	p.Glu652Asp	Missense	2/8	-
7-45123823-T-A	NACAD	c.1956A>T	p.Glu652Asp	Missense	2/8	-
17-36889559-C-T	CISD3	c.235C>T	p.Arg79Cys	Missense	4/4	-
11-77920822-C-A	USP35	c.1921C>A	p.Arg641Arg	Synonymous	10/11	-
1-152636843-A-T	LCE2D	c.262A>T	p.Ser88Cys	Missense	2/2	-
12-10224073-T-C	CLEC1A	c.702A>G	p.Arg234Arg	Synonymous	6/6	-
5-843723-C-A	ZDHHC11	c.620G>T	p.Arg207Met	Missense	4/13	-
12-10224073-T-G	CLEC1A	c.702A>C	p.Arg234Ser	Missense	6/6	-