PMID: 31367044

Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
2019-08

1292 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-196720398-G-A DNAH7 c.8595+137C>T - IntronicSNV - 45/64
16-72024339-T-C PKD1L3 c.536-111A>G - IntronicSNV - 3/30
6-35207714-G-A SCUBE3 c.952+63G>A - IntronicSNV - 8/21
1-44467116-C-T SLC6A9 c.1365G>A p.Pro455Pro Synonymous 9/14 -
11-116728630-G-A SIK3 c.3407C>T - missense_variant 20/24 -
8-75937738-A-ATT CRISPLD1 c.1245-43_1245-42insTT - IntronicInsertion - 12/14
17-72350734-C-A KIF19 c.2706+36C>A - IntronicSNV - 18/19
17-7129898-G-T DVL2 c.1604C>A p.Thr535Asn Missense 14/15 -
2-27801493-T-C C2orf16 c.2054T>C p.Val685Ala Missense 1/1 -
16-71780485-G-A AP1G1 c.1739+6C>T - IntronicSNV - 18/23
6-34824636-A-T UHRF1BP1 c.1361A>T p.Gln454Leu Missense 11/21 -
6-34824636-A-G UHRF1BP1 c.1361A>G p.Gln454Arg Missense 11/21 -
19-11107133-T-C SMARCA4 c.1762-37T>C - IntronicSNV - 10/34
19-45409167-C-G APOE c.-24+69C>G - intron_variant - 1/3
3-125831672-G-A ALDH1L1 c.2134C>T p.Arg712* Nonsense 19/23 -
11-61570783-T-C FADS1 c.1248+52A>G - IntronicSNV - 9/11
22-41231946-A-T ST13 c.383-55T>A - IntronicSNV - 5/11
12-110231717-C-T TRPV4 c.1584+18G>A - IntronicSNV - 9/15
12-110231717-C-G TRPV4 c.1584+18G>C - IntronicSNV - 9/15
2-40342233-G-A SLC8A1 c.*160C>T - 3-UTRSNV 11/11 -
10-95152624-T-C MYOF c.1456+50A>G - IntronicSNV - 17/53
10-99358511-A-G HOGA1 c.212-21A>G - IntronicSNV - 1/6
7-92247333-A-G CDK6 c.834+53T>C - IntronicSNV - 7/7
16-83065664-G-C CDH13 c.207G>C p.Ser69Ser Synonymous 3/14 -
17-41251931-G-C BRCA1 c.442-34C>G - IntronicSNV - 6/22
21-32119576-C-G KRTAP21-2 c.1-56G>C - IntergenicSNV 1/1 -
15-59664710-G-A MYO1E c.1-11C>T - 5-UTRSNV 1/28 -
17-41251931-G-T BRCA1 c.442-34C>A - IntronicSNV - 6/22
3-171969145-C-A FNDC3B c.604C>A p.Arg202Ser Missense 6/26 -
21-22910051-A-G NCAM2 c.2403-116A>G - IntronicSNV - 17/17
5-167589814-G-A TENM2 c.2542+52G>A - IntronicSNV - 14/29
3-171969145-C-T FNDC3B c.604C>T p.Arg202Cys Missense 6/26 -
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
10-12126490-A-T DHTKD1 c.311-49A>T - IntronicSNV - 2/16
10-12126490-A-G DHTKD1 c.311-49A>G - IntronicSNV - 2/16
16-53499374-G-C RBL2 c.1723G>C p.Glu575Gln Missense 13/22 -
11-67265335-G-C PITPNM1 c.1782+53C>G - IntronicSNV - 12/23
11-67265335-G-A PITPNM1 c.1782+53C>T - IntronicSNV - 12/23
16-4414987-G-A CORO7-PAM16 c.898+17C>T - IntronicSNV - 11/30
1-63113511-C-A DOCK7 c.733-64G>T - IntronicSNV - 6/48
1-63113719-T-C DOCK7 c.732+58A>G - IntronicSNV - 6/48
1-21329345-T-A EIF4G3 c.1-110A>T - IntronicSNV - 2/31
20-62227276-C-G GMEB2 c.462-156G>C - IntronicSNV - 5/9
6-30892059-C-T VARS2 c.2467-72C>T - IntronicSNV - 25/29
9-113192655-T-G SVEP1 c.5429A>C p.Glu1810Ala Missense 33/48 -
11-116732512-G-T SIK3 c.2171+45C>A - intron_variant - 17/23
3-44612050-C-T ZKSCAN7 c.1448C>T p.Thr483Ile Missense 6/6 -
3-44612050-C-G ZKSCAN7 c.1448C>G p.Thr483Ser Missense 6/6 -
1-55181650-C-G TTC4 c.69C>G p.Ser23Arg Missense 1/10 -
1-55181650-C-T TTC4 c.69C>T p.Ser23Ser Synonymous 1/10 -
14-33292743-A-C AKAP6 c.5724A>C p.Gly1908Gly Synonymous 13/14 -
1-237817784-A-G RYR2 c.7965+70A>G - IntronicSNV - 52/104
1-159684186-T-C CRP c.61+29A>G - IntronicSNV - 1/1
1-159684186-T-A CRP c.61+29A>T - IntronicSNV - 1/1
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
16-56936272-T-C SLC12A3 c.2748-13T>C - IntronicSNV - 23/25
1-150981267-G-T PRUNE1 c.39+120G>T - IntronicSNV - 1/7
1-150981267-G-C PRUNE1 c.39+120G>C - IntronicSNV - 1/7
11-61548559-A-G MYRF c.2467+42A>G - IntronicSNV - 19/25
1-109824250-G-A PSRC1 c.510C>T p.Asn170Asn Synonymous 4/8 -
3-194363064-A-G LSG1 c.1798-88T>C - IntronicSNV - 13/13
15-91795227-C-G SV2B c.630C>G p.Ile210Met Missense 4/14 -
1-43897496-G-A SZT2 c.5027G>A p.Arg1676His Missense 35/71 -
15-59500842-T-C MYO1E c.1530+38A>G - IntronicSNV - 14/27
4-266400-G-T ZNF732 c.246C>A p.Thr82Thr Synonymous 4/4 -
17-41208897-C-T BRCA1 c.5277+172G>A - IntronicSNV - 19/22
1-55538552-T-G USP24 c.7527-18A>C - IntronicSNV - 64/67
19-14513413-C-T ADGRE5 c.1188C>T p.Pro396Pro Synonymous 12/20 -
19-10738639-C-T SLC44A2 c.198C>T p.Asp66Asp Synonymous 4/22 -
19-10738639-C-G SLC44A2 c.198C>G p.Asp66Glu Missense 4/22 -
19-54823533-T-C LILRA5 c.89-115A>G - IntronicSNV - 2/5
2-27851918-G-A GPN1 c.-8G>A - 5_prime_UTR_variant 1/14 -
19-50017538-G-C FCGRT c.396G>C p.Lys132Asn Missense 4/7 -
21-32119495-C-A KRTAP21-2 c.26G>T p.Cys9Phe Missense 1/1 -
16-56913513-C-A SLC12A3 c.1395C>A p.Thr465Thr Synonymous 11/26 -
16-56913513-C-G SLC12A3 c.1395C>G p.Thr465Thr Synonymous 11/26 -
16-56913513-C-T SLC12A3 c.1395C>T p.Thr465Thr Synonymous 11/26 -
1-55523984-C-T PCSK9 c.1354+102C>T - IntronicSNV - 8/11
5-75003678-T-A POC5 c.32A>T p.His11Leu Missense 2/11 -
1-109839392-A-T MYBPHL c.730+13T>A - IntronicSNV - 5/8
19-19976988-G-C ZNF253 c.3+180G>C - IntronicSNV - 1/3
15-59453384-T-C MYO1E c.2673A>G p.Ala891Ala Synonymous 24/28 -
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
3-158539799-T-C MFSD1 c.947T>C - missense_variant 11/16 -
3-158539799-T-A MFSD1 c.947T>A - missense_variant 11/16 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
2-27556721-G-A GTF3C2 c.1603-70C>T - IntronicSNV - 11/18
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
1-55525400-G-A PCSK9 c.1681+64G>A - IntronicSNV - 10/11
12-103248924-C-G PAH c.696G>C p.Gln232His Missense 6/13 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
17-4692640-G-T GLTPD2 c.171+55G>T - IntronicSNV - 2/3
12-121442670-T-A C12orf43 c.452+136A>T - IntronicSNV - 5/5
12-121442670-T-C C12orf43 c.452+136A>G - IntronicSNV - 5/5
15-58724371-C-T LIPC c.88+52C>T - IntronicSNV - 1/8
2-84755956-T-A DNAH6 c.400-72T>A - IntronicSNV - 3/76
12-96374381-C-A HAL c.848G>T p.Gly283Val Missense 16/20 -
3-48229366-C-A CDC25A c.72G>T p.Gln24His Missense 1/15 -
17-41003895-A-G AOC3 c.535A>G p.Ile179Val Missense 1/4 -
4-164433954-T-C TMA16 c.117-20T>C - IntronicSNV - 2/6
20-19955810-C-A RIN2 c.1288C>A p.Arg430Arg Synonymous 8/12 -
9-107665739-G-A ABCA1 c.66+156C>T - IntronicSNV - 2/49
20-19955810-C-T RIN2 c.1288C>T p.Arg430Trp Missense 8/12 -
12-20885931-A-G SLCO1C1 c.1275A>G p.Ala425Ala Synonymous 10/15 -
11-116657561-C-T ZPR1 c.424+124G>A - IntronicSNV - 3/13
18-46447850-C-G SMAD7 c.1173G>C p.Thr391Thr Synonymous 4/4 -
12-133389913-C-A GOLGA3 c.499G>T p.Val167Leu Missense 4/24 -
5-75003678-T-C POC5 c.32A>G p.His11Arg Missense 2/11 -
1-154407419-A-C IL6R c.641-47A>C - IntronicSNV - 4/9
16-81118266-C-G GCSH c.293-67G>C - IntronicSNV - 3/4
5-64755987-A-G ADAMTS6 c.631+10T>C - IntronicSNV - 4/24
12-102591269-G-T PMCH c.249+31C>A - IntronicSNV - 1/2
5-32599224-A-G SUB1 c.304+49A>G - IntronicSNV - 4/4
21-35206898-A-G ITSN1 c.3469+170A>G - IntronicSNV - 28/39
16-81118266-C-A GCSH c.293-67G>T - IntronicSNV - 3/4
16-81118266-C-T GCSH c.293-67G>A - IntronicSNV - 3/4
4-69332537-G-A TMPRSS11E c.258+67G>A - IntronicSNV - 3/9
3-186508312-C-T RFC4 c.802-117G>A - IntronicSNV - 8/10
2-242176014-G-A HDLBP c.2904+16C>T - IntronicSNV - 21/27
19-45395844-G-A TOMM40 c.342+127G>A - IntronicSNV - 3/9
1-158576325-T-G OR10Z1 c.97T>G p.Ser33Ala Missense 1/1 -
4-69536084-A-C UGT2B15 c.253T>G p.Tyr85Asp Missense 1/6 -
9-140373607-C-T PNPLA7 c.2589G>A p.Ala863Ala Synonymous 23/34 -
11-57414387-A-G YPEL4 c.141+53T>C - IntronicSNV - 2/4
16-57282320-A-G ARL2BP c.101-129A>G - IntronicSNV - 2/5
11-61624414-T-C FADS2 c.745-69T>C - IntronicSNV - 5/11
16-57282320-A-T ARL2BP c.101-129A>T - IntronicSNV - 2/5
1-12359175-C-G VPS13D c.6034-84C>G - IntronicSNV - 24/69
22-23523285-G-A BCR c.138G>A p.Glu46Glu Synonymous 1/23 -
7-48287840-G-A ABCA13 c.1664G>A p.Arg555His Missense 14/62 -
1-63044464-C-T DOCK7 c.2010+35G>A - IntronicSNV - 17/48
12-121432302-T-A HNF1A c.955+94T>A - IntronicSNV - 4/9
19-11326119-A-G DOCK6 c.4050T>C p.Asn1350Asn Synonymous 32/48 -
10-14909556-A-T HSPA14 c.1207-179A>T - IntronicSNV - 11/13
19-11326119-A-T DOCK6 c.4050T>A p.Asn1350Lys Missense 32/48 -
17-19233033-T-C EPN2 c.1411+73T>C - IntronicSNV - 9/10
1-1275716-T-G DVL1 c.700-20A>C - IntronicSNV - 6/14
11-61557868-T-C TMEM258 c.113+97A>G - IntronicSNV - 2/3
18-47109955-A-C LIPG c.1187A>C p.Asn396Thr Missense 8/10 -
19-45397307-C-G TOMM40 c.627C>G p.Asp209Glu Missense 6/10 -
12-121437114-G-A HNF1A c.1545G>A p.Thr515Thr Synonymous 8/10 -
9-6012734-A-C RANBP6 c.2874T>G p.Leu958Leu Synonymous 1/1 -
11-61551356-T-G MYRF c.3033T>G p.Ser1011Arg Missense 23/26 -
18-47109955-A-G LIPG c.1187A>G p.Asn396Ser Missense 8/10 -
12-121437114-G-T HNF1A c.1545G>T p.Thr515Thr Synonymous 8/10 -
10-54531235-C-T MBL2 c.161G>A p.Gly54Asp Missense 1/4 -
19-54824177-C-T LILRA5 c.3+110G>A - IntronicSNV - 1/5
19-54824177-C-G LILRA5 c.3+110G>C - IntronicSNV - 1/5
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
11-116701535-T-C APOC3 c.102T>C p.Gly34Gly Synonymous 3/4 -
11-66203607-G-T MRPL11 c.474-24C>A - IntronicSNV - 4/4
8-22275367-A-G SLC39A14 c.1332+19A>G - IntronicSNV - 8/8
12-53512099-G-C SOAT2 c.779-35G>C - IntronicSNV - 7/14
11-116655600-G-C ZPR1 c.791C>G p.Ala264Gly Missense 8/14 -
11-116655600-G-A ZPR1 c.791C>T p.Ala264Val Missense 8/14 -
1-237819014-C-G RYR2 c.7966-107C>G - IntronicSNV - 52/104
15-48495508-C-T CTXN2 c.*1765C>T - 3-UTRSNV 2/2 -
2-215661680-G-C BARD1 c.215+105C>G - IntronicSNV - 2/10
1-237819014-C-T RYR2 c.7966-107C>T - IntronicSNV - 52/104
19-50100484-G-A PRR12 c.2892G>A p.Lys964Lys Synonymous 4/14 -
3-186570816-T-C ADIPOQ c.1-32T>C - IntronicSNV - 1/2
14-104518453-A-G TDRD9 c.*34A>G - 3-UTRSNV 36/36 -
3-49377424-C-A USP4 c.34G>T p.Asp12Tyr Missense 1/21 -
14-104518453-A-C TDRD9 c.*34A>C - 3-UTRSNV 36/36 -
12-56845358-T-A MIP c.607-109A>T - IntronicSNV - 3/3
10-25701341-C-T GPR158 c.1274C>T p.Ala425Val Missense 4/11 -
10-72164174-G-C EIF4EBP2 c.17G>C p.Gly6Ala Missense 1/3 -
17-39766611-G-A KRT16 c.1252C>T p.Arg418Cys Missense 6/8 -
3-49377424-C-T USP4 c.34G>A p.Asp12Asn Missense 1/21 -
10-72164174-G-A EIF4EBP2 c.17G>A p.Gly6Asp Missense 1/3 -
1-111963777-T-G OVGP1 c.903+121A>C - IntronicSNV - 8/10
11-57414387-A-C YPEL4 c.141+53T>G - IntronicSNV - 2/4
1-111963777-T-C OVGP1 c.903+121A>G - IntronicSNV - 8/10
18-46447850-C-A SMAD7 c.1173G>T p.Thr391Thr Synonymous 4/4 -
16-56969016-G-A HERPUD1 c.148-131G>A - IntronicSNV - 1/7
11-61641396-C-T FADS3 c.1287-59G>A - IntronicSNV - 11/11
11-116628396-C-T BUD13 c.1684+86G>A - IntronicSNV - 8/9
21-22910116-C-T NCAM2 c.2403-51C>T - IntronicSNV - 17/17
2-28066122-T-C RBKS c.350-24A>G - IntronicSNV - 4/7
11-61564299-G-C FEN1 c.*323G>C - 3-UTRSNV 2/2 -
12-121706533-T-G CAMKK2 c.574-41A>C - IntronicSNV - 4/15
12-121706533-T-A CAMKK2 c.574-41A>T - IntronicSNV - 4/15
16-81095099-C-T C16orf46 c.855G>A p.Ala285Ala Synonymous 4/4 -
9-7165464-A-G KDM4C c.2901+107A>G - IntronicSNV - 20/21
16-57005301-C-T CETP c.658+8C>T - IntronicSNV - 7/15
19-7117487-C-T INSR c.3795-66G>A - IntronicSNV - 21/21
5-176728878-T-C RAB24 c.547+48A>G - IntronicSNV - 8/8
13-114526642-C-T GAS6 c.1478-119G>A - IntronicSNV - 12/14
11-68675497-C-T IGHMBP2 c.257-116C>T - IntronicSNV - 2/14
17-57292334-C-G SMG8 c.2947C>G p.Arg983Gly Missense 4/4 -
17-57292334-C-T SMG8 c.2947C>T p.Arg983Cys Missense 4/4 -
5-101816159-G-C SLCO6A1 c.359-21C>G - IntronicSNV - 1/13
19-7117487-C-G INSR c.3795-66G>C - IntronicSNV - 21/21
19-10741907-A-G SLC44A2 c.325-44A>G - IntronicSNV - 5/21
19-11319491-G-A DOCK6 c.4959C>T p.Asn1653Asn Synonymous 39/48 -
18-46447850-C-T SMAD7 c.1173G>A p.Thr391Thr Synonymous 4/4 -
19-42584958-C-T ZNF574 c.2200C>T p.Arg734Cys Missense 2/2 -
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
2-216809521-G-C MREG c.*65C>G - 3-UTRSNV 5/5 -
9-136133531-A-G ABO c.204-9T>C - IntronicSNV - 4/7
10-99359412-C-T HOGA1 c.469-25C>T - IntronicSNV - 3/6
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
20-10026108-A-G ANKEF1 c.697-114A>G - IntronicSNV - 5/10
15-94882734-ACGT-ACGTACGT MCTP2 c.780+73_780+76dup - IntronicInsertion - 4/21
5-137844274-A-G ETF1 c.1231+84T>C - IntronicSNV - 10/10
5-137844274-A-T ETF1 c.1231+84T>A - IntronicSNV - 10/10
12-56865338-A-G GLS2 c.1742T>C p.Leu581Pro Missense 18/18 -
16-71603912-C-A TAT c.1042-72G>T - IntronicSNV - 9/11
16-71603912-C-T TAT c.1042-72G>A - IntronicSNV - 9/11
9-131708952-G-A DOLK c.631C>T p.Arg211Cys Missense 1/1 -
12-53512099-G-A SOAT2 c.779-35G>A - IntronicSNV - 7/14
6-159187849-A-G EZR c.*97T>C - 3-UTRSNV 13/13 -
11-116654375-G-A ZPR1 c.892-40C>T - IntronicSNV - 9/13
9-107620797-A-G ABCA1 c.720+6T>C - IntronicSNV - 7/49
11-44102942-T-C ACCS c.1111+72T>C - IntronicSNV - 12/14
16-70693394-C-G IL34 c.403-127C>G - IntronicSNV - 5/6
16-71956596-A-G IST1 c.759+13A>G - IntronicSNV - 7/9
5-149276198-G-A PDE6A c.1473+76C>T - IntronicSNV - 11/21
3-186509517-G-A RFC4 c.798C>T p.Ala266Ala Synonymous 8/11 -
3-186509517-G-T RFC4 c.798C>A p.Ala266Ala Synonymous 8/11 -
11-86176168-C-T ME3 c.884G>A p.Arg295His Missense 7/14 -
1-21329345-T-C EIF4G3 c.1-110A>G - IntronicSNV - 2/31
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
1-55518528-C-A PCSK9 c.799+64C>A - IntronicSNV - 5/11
9-140262424-C-T EXD3 c.480G>A p.Ala160Ala Synonymous 6/22 -
19-12060587-A-G ZNF700 c.1748A>G p.Glu583Gly Missense 4/4 -
6-35378997-G-A PPARD c.130+3G>A - IntronicSNV - 3/7
11-61674118-C-A RAB3IL1 c.477G>T p.Thr159Thr Synonymous 5/10 -
11-61674118-C-G RAB3IL1 c.477G>C p.Thr159Thr Synonymous 5/10 -
2-27802805-A-G C2orf16 c.3366A>G p.Leu1122Leu Synonymous 1/1 -
11-116728630-G-T SIK3 c.3407C>A - missense_variant 20/24 -
15-42160635-C-G SPTBN5 c.6018G>C p.Gly2006Gly Synonymous 33/68 -
6-31919578-A-G CFB c.2140-74A>G - IntronicSNV - 17/17
1-112238216-A-G RAP1A c.126+185A>G - IntronicSNV - 3/7
2-27656823-A-AA NRBP1 c.334-33_334-33dup - IntronicInsertion - 3/17
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -
12-53451877-C-T TNS2 c.1086C>T p.Gly362Gly Synonymous 14/29 -
19-11303943-A-G KANK2 c.813T>C p.Val271Val Synonymous 2/11 -
7-137590369-G-A CREB3L2 c.915+79C>T - IntronicSNV - 6/11
10-81058892-G-A ZMIZ1 c.1752G>A p.Ala584Ala Synonymous 16/25 -
5-39364554-G-A C9 c.13C>T p.Arg5Trp Missense 1/11 -
9-101606549-G-T GALNT12 c.1458+58G>T - IntronicSNV - 8/9
19-54631381-G-A PRPF31 c.946-67G>A - IntronicSNV - 9/13
11-116633862-G-A BUD13 c.443C>T p.Pro148Leu Missense 4/10 -
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
3-186570746-T-G ADIPOQ c.1-102T>G - IntronicSNV - 1/2
2-211085491-G-A ACADL c.113C>T p.Thr38Ile Missense 2/11 -
21-22910026-T-C NCAM2 c.2403-141T>C - IntronicSNV - 17/17
1-154492702-G-C TDRD10 c.142-78G>C - IntronicSNV - 4/12
19-20003576-C-A ZNF253 c.*20C>A - 3-UTRSNV 4/4 -
19-20003576-C-G ZNF253 c.*20C>G - 3-UTRSNV 4/4 -
19-45404691-A-T TOMM40 c.946+124A>T - IntronicSNV - 9/9
16-71951094-G-T IST1 c.357+57G>T - IntronicSNV - 4/9
3-158178856-G-A RSRC1 c.652+64G>A - IntronicSNV - 7/9
15-59500255-C-T MYO1E c.1530+625G>A - IntronicSNV - 14/27
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
11-68207327-C-T LRP5 c.4431C>T p.His1477His Synonymous 21/23 -
3-48609041-C-A COL7A1 c.7069-330G>T - IntronicSNV - 91/117
3-33467112-G-A UBP1 c.235C>T p.His79Tyr Missense 2/16 -
19-20003576-C-T ZNF253 c.*20C>T - 3-UTRSNV 4/4 -
12-96384437-A-T HAL c.92-127T>A - IntronicSNV - 8/19
7-100686801-A-T MUC17 c.12104A>T p.His4035Leu Missense 3/13 -
16-57007192-T-C CETP c.751-51T>C - IntronicSNV - 8/15
16-71697752-T-C PHLPP2 c.1985+50A>G - IntronicSNV - 13/18
19-11325417-A-G DOCK6 c.4107-92T>C - IntronicSNV - 32/47
19-19217048-C-T SLC25A42 c.381-30C>T - IntronicSNV - 5/7
19-45397307-C-T TOMM40 c.627C>T p.Asp209Asp Synonymous 6/10 -
11-47303049-G-A MADD c.1291-77G>A - IntronicSNV - 7/32
22-44495953-A-G PARVB c.322A>G p.Met108Val Missense 4/14 -
1-54723658-T-C SSBP3 c.447+84A>G - IntronicSNV - 6/16
12-121438844-T-C HNF1A c.1769-24T>C - IntronicSNV - 9/9
1-55085604-TCG-TGG FAM151A c.193_195delCGAinsTGG p.Arg65Trp Missense 2/8 -
10-95082882-G-A MYOF c.5409C>T p.Asp1803Asp Synonymous 48/54 -
9-6533092-C-G GLDC c.2988G>C p.Gln996His Missense 25/25 -
17-4701019-C-A PSMB6 c.345C>A p.Ser115Arg Missense 4/6 -
17-4701019-C-T PSMB6 c.345C>T p.Ser115Ser Synonymous 4/6 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
16-71609856-C-T TAT c.309G>A p.Ser103Ser Synonymous 3/12 -
16-69965021-C-T WWP2 c.1446-34C>T - IntronicSNV - 14/24
12-53457585-C-T TNS2 c.4149C>T p.Leu1383Leu Synonymous 29/29 -
4-49039958-C-G CWH43 c.1659-95C>G - IntronicSNV - 12/15
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
7-5239139-G-A WIPI2 c.129-68G>A - IntronicSNV - 2/12
11-1891722-C-T LSP1 c.54-9595C>T - IntronicSNV - 1/10
16-71780599-T-C AP1G1 c.1635-4A>G - IntronicSNV - 17/23
16-81095363-C-T C16orf46 c.591G>A p.Leu197Leu Synonymous 4/4 -
15-59368167-G-A RNF111 c.1701G>A p.Val567Val Synonymous 7/14 -
11-88645211-G-A GRM5 c.662-61888C>T - IntronicSNV - 2/8
3-140167395-C-T CLSTN2 c.822C>T p.Ser274Ser Synonymous 6/17 -
9-136501728-C-A DBH c.235C>A p.Arg79Arg Synonymous 1/12 -
15-66850362-C-T LCTL c.718G>A p.Ala240Thr Missense 8/14 -
9-107651526-A-G ABCA1 c.67-50T>C - IntronicSNV - 2/49
2-155711357-T-C KCNJ3 c.1038T>C p.His346His Synonymous 3/3 -
6-34791027-A-G UHRF1BP1 c.247-7A>G - IntronicSNV - 3/20
19-19313586-G-A NR2C2AP c.129+14C>T - IntronicSNV - 2/4
22-40804178-C-T SGSM3 c.1629+54C>T - IntronicSNV - 15/21
1-12359175-C-T VPS13D c.6034-84C>T - IntronicSNV - 24/69
1-12336147-T-C VPS13D c.2502T>C p.Asn834Asn Synonymous 19/70 -
3-186502665-C-T EIF4A2 c.209-86C>T - IntronicSNV - 3/10
7-73013901-C-G MLXIPL c.1026G>C p.Pro342Pro Synonymous 8/17 -
7-73013901-C-T MLXIPL c.1026G>A p.Pro342Pro Synonymous 8/17 -
15-50763778-A-G USP8 c.687-52A>G - IntronicSNV - 7/19
3-48658844-C-T TMEM89 c.294+52G>A - IntronicSNV - 1/1
9-125315351-G-A OR1N2 c.1-98G>A - IntergenicSNV 1/1 -
12-96384185-C-G HAL c.217G>C p.Ala73Pro Missense 9/20 -
15-86064909-T-G AKAP13 c.181+103T>G - IntronicSNV - 3/36
1-109839392-A-G MYBPHL c.730+13T>C - IntronicSNV - 5/8
5-176836532-A-G F12 c.1-4T>C - 5-UTRSNV 1/14 -
2-27801759-A-G C2orf16 c.2320A>G p.Ile774Val Missense 1/1 -
11-116708020-A-G APOA1 c.43+41T>C - IntronicSNV - 2/3
11-121447832-T-C SORL1 c.3461-158T>C - IntronicSNV - 24/47
12-96384185-C-T HAL c.217G>A p.Ala73Thr Missense 9/20 -
19-10916684-C-T DNM2 c.1545+41C>T - IntronicSNV - 13/19
19-11332570-T-A DOCK6 c.3507A>T p.Leu1169Leu Synonymous 28/48 -
2-71163350-C-T ATP6V1B1 c.118+148C>T - IntronicSNV - 1/13
1-12389953-T-C VPS13D c.8265T>C p.Asp2755Asp Synonymous 37/70 -
17-4692640-G-A GLTPD2 c.171+55G>A - IntronicSNV - 2/3
17-6594322-G-A SLC13A5 c.1276-63C>T - IntronicSNV - 9/11
19-11326125-C-T DOCK6 c.4044G>A p.Pro1348Pro Synonymous 32/48 -
9-5969249-A-C KIAA2026 c.982T>G p.Leu328Val Missense 3/8 -
16-84063120-G-A SLC38A8 c.669C>T p.Pro223Pro Synonymous 5/10 -
6-34730301-G-C SNRPC c.52-71G>C - IntronicSNV - 2/5
11-59345922-A-G OSBP c.1879-119T>C - IntronicSNV - 11/13
11-61548874-G-A MYRF c.2659+73G>A - IntronicSNV - 20/25
5-101816159-G-T SLCO6A1 c.359-21C>A - IntronicSNV - 1/13
19-11350904-C-T ANGPTL8 c.391C>T p.Gln131* Nonsense 2/4 -
8-69358772-A-G C8orf34 c.607+77A>G - IntronicSNV - 3/13
12-122481879-A-G BCL7A c.359A>G p.Asn120Ser Missense 4/6 -
12-120960057-C-T COQ5 c.312G>A p.Pro104Pro Synonymous 2/7 -
1-12316371-G-T VPS13D c.670-19G>T - IntronicSNV - 7/69
17-6599157-C-G SLC13A5 c.943G>C p.Ala315Pro Missense 7/12 -
17-6599157-C-A SLC13A5 c.943G>T p.Ala315Ser Missense 7/12 -
19-11597711-C-T ZNF653 c.1344-16G>A - IntronicSNV - 5/8
9-133748503-C-T ABL1 c.1142+79C>T - IntronicSNV - 6/10
11-107502247-G-A ELMOD1 c.193-59G>A - IntronicSNV - 4/11
2-84806861-A-G DNAH6 c.2229+58A>G - IntronicSNV - 14/76
17-6599157-C-T SLC13A5 c.943G>A p.Ala315Thr Missense 7/12 -
2-169801628-A-C ABCB11 c.2344-157T>G - IntronicSNV - 19/27
19-11346252-A-C DOCK6 c.2554+22T>G - IntronicSNV - 21/47
16-57017662-G-A CETP c.*84G>A - 3-UTRSNV 16/16 -
9-136501728-C-T DBH c.235C>T p.Arg79Trp Missense 1/12 -
9-136501728-C-G DBH c.235C>G p.Arg79Gly Missense 1/12 -
7-2802522-T-C GNA12 c.526-29387A>G - IntronicSNV - 2/3
5-176815124-T-C SLC34A1 c.774T>C p.His258His Synonymous 7/13 -
21-35134148-C-T ITSN1 c.725-79C>T - IntronicSNV - 8/39
13-43462304-C-A EPSTI1 c.*82G>T - 3-UTRSNV 13/13 -
1-71544303-T-C ZRANB2 c.109+36A>G - IntronicSNV - 2/9
2-120848049-C-T EPB41L5 c.1000C>T p.His334Tyr Missense 12/25 -
11-16760244-T-G C11orf58 c.1-82T>G - 5-UTRSNV 1/5 -
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
4-13612630-T-G BOD1L1 c.1419A>C p.Lys473Asn Missense 6/26 -
15-59500346-C-T MYO1E c.1530+534G>A - IntronicSNV - 14/27
2-219849656-C-T FEV c.52+90G>A - IntronicSNV - 1/2
11-116728630-G-C SIK3 c.3407C>G - missense_variant 20/24 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
6-34802301-C-T UHRF1BP1 c.528+118C>T - IntronicSNV - 5/20
19-45403858-A-G TOMM40 c.644-129A>G - IntronicSNV - 6/9
19-11136857-C-T SMARCA4 c.3169-119C>T - IntronicSNV - 22/34
9-113192785-A-T SVEP1 c.5354-55T>A - IntronicSNV - 32/47
19-11327571-C-T DOCK6 c.3894+19G>A - IntronicSNV - 30/47
15-79058968-T-G ADAMTS7 c.3285A>C p.Thr1095Thr Synonymous 19/24 -
15-79058968-T-C ADAMTS7 c.3285A>G p.Thr1095Thr Synonymous 19/24 -
15-79058968-T-A ADAMTS7 c.3285A>T p.Thr1095Thr Synonymous 19/24 -
18-47108656-T-G LIPG c.1037-76T>G - IntronicSNV - 6/9
12-125348246-C-G SCARB1 c.21G>C p.Ala7Ala Synonymous 1/13 -
16-71773190-G-C AP1G1 c.2063C>G p.Pro688Arg Missense 21/24 -
12-124297874-A-G DNAH10 c.2954A>G p.Asn985Ser Missense 19/78 -
16-71773190-G-A AP1G1 c.2063C>T p.Pro688Leu Missense 21/24 -
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
20-43248841-G-A ADA c.1078+99C>T - IntronicSNV - 11/11
3-186437944-T-C KNG1 c.246T>C p.Asp82Asp Synonymous 2/10 -
9-117086241-G-A ORM1 c.258-57G>A - IntronicSNV - 2/5
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19
16-71799347-A-G AP1G1 c.747+45T>C - IntronicSNV - 8/23
15-59500577-T-C MYO1E c.1530+303A>G - IntronicSNV - 14/27
16-70416957-T-C ST3GAL2 c.760-130A>G - IntronicSNV - 5/6
19-11134090-A-G SMARCA4 c.2860-104A>G - IntronicSNV - 19/34
1-55253374-G-A TTC22 c.739+10C>T - IntronicSNV - 3/5
1-55253374-G-C TTC22 c.739+10C>G - IntronicSNV - 3/5
3-186792241-C-T ST6GAL1 c.979+120C>T - IntronicSNV - 7/7
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
15-59500117-T-C MYO1E c.1530+763A>G - IntronicSNV - 14/27
21-45217936-C-G RRP1 c.766C>G p.Arg256Gly Missense 8/13 -
6-35287755-G-A DEF6 c.1542G>A p.Glu514Glu Synonymous 9/11 -
18-67365668-A-G DOK6 c.438A>G p.Thr146Thr Synonymous 5/8 -
12-121435342-C-T HNF1A c.1375C>T p.Leu459Leu Synonymous 7/10 -
19-20150175-G-C ZNF682 c.1-21C>G - 5-UTRSNV 1/4 -
7-48280454-G-A ABCA13 c.1063-10G>A - IntronicSNV - 9/61
17-53491458-C-T MMD c.108+54G>A - IntronicSNV - 2/6
1-117131164-G-A IGSF3 c.2500+152C>T - IntronicSNV - 9/11
12-121426901-G-C HNF1A c.526+66G>C - IntronicSNV - 2/9
12-121426901-G-T HNF1A c.526+66G>T - IntronicSNV - 2/9
12-121426901-G-A HNF1A c.526+66G>A - IntronicSNV - 2/9
5-55479293-A-G ANKRD55 c.181+46T>C - IntronicSNV - 3/11
11-102199864-A-G BIRC3 c.1081+188A>G - IntronicSNV - 5/8
9-4118540-C-G GLIS3 c.473G>C p.Gly158Ala Missense 3/10 -
5-55479293-A-T ANKRD55 c.181+46T>A - IntronicSNV - 3/11
19-20012070-T-C ZNF93 c.3+170T>C - IntronicSNV - 1/3
17-40822982-T-C PLEKHH3 c.1421+30A>G - IntronicSNV - 9/12
5-176824137-C-G SLC34A1 c.1416+62C>G - IntronicSNV - 12/12
5-41739684-G-A OXCT1 c.1420-91C>T - IntronicSNV - 15/16
5-176824137-C-T SLC34A1 c.1416+62C>T - IntronicSNV - 12/12
22-38559586-G-A PLA2G6 c.209+5639C>T - IntronicSNV - 2/15
10-81926960-T-C ANXA11 c.649+22A>G - IntronicSNV - 7/16
16-20963832-C-T DNAH3 c.11111G>A p.Arg3704Lys Missense 56/62 -
2-44066247-G-A ABCG8 c.55G>A p.Asp19Asn Missense 1/13 -
1-55224773-A-C PARS2 c.62T>G p.Leu21Arg Missense 2/2 -
1-150958836-A-G ANXA9 c.497A>G p.Asp166Gly Missense 8/14 -
22-40036804-C-T CACNA1I c.741-68C>T - IntronicSNV - 5/35
9-113192773-A-G SVEP1 c.5354-43T>C - IntronicSNV - 32/47
12-56871314-G-A GLS2 c.837+130C>T - IntronicSNV - 7/17
2-27855397-A-T GPN1 c.313-103A>T - intron_variant - 4/13
8-98289238-T-C TSPYL5 c.835A>G p.Ser279Gly Missense 1/1 -
12-121432117-G-C HNF1A c.864G>C p.Gly288Gly Synonymous 4/10 -
12-48393781-G-A COL2A1 c.213C>T p.Asp71Asp Synonymous 2/54 -
19-18308164-G-A RAB3A c.*116C>T - 3-UTRSNV 5/5 -
1-100327691-T-C AGL c.294-122T>C - IntronicSNV - 3/33
10-72289126-T-C PALD1 c.288+39T>C - IntronicSNV - 3/19
6-44218225-A-G HSP90AB1 c.846A>G p.Leu282Leu Synonymous 6/12 -
20-25000734-G-A ACSS1 c.1158C>T p.Gly386Gly Synonymous 7/14 -
11-46515586-G-A AMBRA1 c.2150+88C>T - IntronicSNV - 11/18
16-336730-C-A PDIA2 c.1417C>A p.Arg473Arg Synonymous 9/11 -
4-164415930-C-T TMA16 c.1-24C>T - 5-UTRSNV 1/7 -
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
19-11327608-T-A DOCK6 c.3876A>T p.Leu1292Leu Synonymous 30/48 -
17-56247101-C-A OR4D2 c.85C>A p.Leu29Ile Missense 1/1 -
1-21016841-G-A KIF17 c.1234-13C>T - IntronicSNV - 6/14
19-19675696-C-T PBX4 c.925+46G>A - IntronicSNV - 6/7
7-99764196-G-A GAL3ST4 c.358C>T p.Arg120Cys Missense 3/4 -
14-24882312-G-C NYNRIN c.2744+8G>C - IntronicSNV - 7/8
14-24882312-G-T NYNRIN c.2744+8G>T - IntronicSNV - 7/8
7-99764196-G-C GAL3ST4 c.358C>G p.Arg120Gly Missense 3/4 -
7-2752152-G-A AMZ1 c.1137G>A p.Ser379Ser Synonymous 7/7 -
8-91953077-G-A NECAB1 c.811G>A p.Ala271Thr Missense 10/13 -
12-121435427-G-A HNF1A c.1460G>A p.Ser487Asn Missense 7/10 -
2-211302627-C-A LANCL1 c.691-31G>T - IntronicSNV - 6/9
3-186435583-T-C KNG1 c.195+57T>C - IntronicSNV - 1/9
6-111543067-G-A SLC16A10 c.1316-139G>A - IntronicSNV - 5/5
11-61549025-G-A MYRF c.2660-20G>A - IntronicSNV - 20/25
16-71607384-T-A TAT c.408+58A>T - IntronicSNV - 4/11
16-71607384-T-G TAT c.408+58A>C - IntronicSNV - 4/11
16-71956597-A-T IST1 c.759+14A>T - IntronicSNV - 7/9
15-100692953-G-T ADAMTS17 c.1337C>A p.Thr446Asn Missense 10/22 -
2-44066247-G-C ABCG8 c.55G>C p.Asp19His Missense 1/13 -
12-103240630-C-A PAH c.969+43G>T - IntronicSNV - 9/12
16-72048332-T-C DHODH c.235-40T>C - IntronicSNV - 2/8
19-54577305-C-T TARM1 c.525G>A p.Ala175Ala Synonymous 4/5 -
12-121431225-G-A HNF1A c.527-98G>A - IntronicSNV - 2/9
16-71768500-T-C AP1G1 c.2376+12A>G - IntronicSNV - 23/23
16-56904587-C-G SLC12A3 c.791C>G p.Ala264Gly Missense 6/26 -
16-55729318-G-A SLC6A2 c.1147+4G>A - IntronicSNV - 7/13
1-63090858-C-T DOCK7 c.1425+72G>A - IntronicSNV - 12/48
1-66088701-C-G LEPR c.2673+37C>G - IntronicSNV - 19/19
10-95082894-G-A MYOF c.5397C>T p.Asp1799Asp Synonymous 48/54 -
4-72618334-A-C GC c.1296T>G p.Asp432Glu Missense 11/13 -
19-54784130-T-A LILRB2 c.59A>T p.His20Leu Missense 3/14 -
11-117309989-C-T DSCAML1 c.4137G>A - synonymous_variant 23/33 -
22-22329983-C-T TOP3B c.70+29G>A - IntronicSNV - 2/17
2-169814655-G-A ABCB11 c.2179-17C>T - IntronicSNV - 18/27
2-169814655-G-T ABCB11 c.2179-17C>A - IntronicSNV - 18/27
16-71988106-C-T PKD1L3 c.2707G>A p.Val903Ile Missense 17/31 -
19-54577305-C-A TARM1 c.525G>T p.Ala175Ala Synonymous 4/5 -
19-11327626-A-G DOCK6 c.3858T>C p.Asp1286Asp Synonymous 30/48 -
16-3724465-G-C TRAP1 c.919C>G p.Arg307Gly Missense 9/18 -
1-55518467-A-G PCSK9 c.799+3A>G - IntronicSNV - 5/11
22-44496043-C-G PARVB c.372+40C>G - IntronicSNV - 4/13
22-44496043-C-T PARVB c.372+40C>T - IntronicSNV - 4/13
11-68030026-G-A C11orf24 c.437C>T p.Ala146Val Missense 4/4 -
19-10395031-G-A ICAM1 c.925+35G>A - IntronicSNV - 4/6
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
4-69334413-C-A TMPRSS11E c.259-184C>A - IntronicSNV - 3/9
6-34738203-T-C SNRPC c.355+31T>C - IntronicSNV - 5/5
17-42273328-C-T ATXN7L3 c.544+74G>A - IntronicSNV - 6/11
17-7129898-G-A DVL2 c.1604C>T p.Thr535Ile Missense 14/15 -
4-114239589-G-A ANK2 c.2797-84G>A - IntronicSNV - 25/45
22-19197896-T-A CLTCL1 c.3189A>T p.Ala1063Ala Synonymous 20/33 -
12-56812271-A-T TIMELESS c.3229-128T>A - IntronicSNV - 26/28
16-81117906-A-C GCSH c.424+162T>G - IntronicSNV - 4/4
19-19976701-A-T ZNF253 c.1-105A>T - IntergenicSNV 1/4 -
3-48229366-C-T CDC25A c.72G>A p.Gln24Gln Synonymous 1/15 -
19-19976701-A-G ZNF253 c.1-105A>G - IntergenicSNV 1/4 -
6-143081035-A-G HIVEP2 c.6390T>C p.Ser2130Ser Synonymous 9/10 -
19-10463579-C-G TYK2 c.3200+23G>C - IntronicSNV - 22/24
19-10463579-C-T TYK2 c.3200+23G>A - IntronicSNV - 22/24
19-16884122-G-A NWD1 c.2596G>A p.Gly866Ser Missense 11/19 -
2-21232804-G-A APOB c.6936C>T p.Asp2312Asp Synonymous 26/29 -
10-12131081-T-G DHTKD1 c.814T>G p.Tyr272Asp Missense 5/17 -
7-47408732-G-A TNS3 c.1511C>T p.Ser504Leu Missense 17/31 -
2-71654175-G-A ZNF638 c.5176G>A p.Val1726Met Missense 24/28 -
11-61543499-T-C MYRF c.1285-29T>C - IntronicSNV - 8/25
19-11327608-T-C DOCK6 c.3876A>G p.Leu1292Leu Synonymous 30/48 -
17-7077742-C-T ASGR1 c.393G>A p.Val131Val Synonymous 6/9 -
12-56676761-TCG-TGT CS c.280_282delCGAinsTGT p.Arg94Cys Missense 5/11 -
7-129765591-T-C KLHDC10 c.865-114T>C - IntronicSNV - 6/9
16-72184566-C-T PMFBP1 c.577G>A p.Glu193Lys Missense 5/21 -
2-220366824-G-C GMPPA c.429+65G>C - IntronicSNV - 5/12
20-3299212-G-A C20orf194 c.1357-165C>T - IntronicSNV - 16/36
2-220366824-G-T GMPPA c.429+65G>T - IntronicSNV - 5/12
3-78688824-G-T ROBO1 c.3037+70C>A - IntronicSNV - 22/30
11-108384393-G-A EXPH5 c.1841C>T p.Ala614Val Missense 6/6 -
11-108384393-G-C EXPH5 c.1841C>G p.Ala614Gly Missense 6/6 -
15-90616413-C-A ZNF710 c.1569C>A p.Ile523Ile Synonymous 3/5 -
19-19449719-C-T MAU2 c.522C>T p.Tyr174Tyr Synonymous 5/19 -
16-57007353-C-T CETP c.861C>T p.Phe287Phe Synonymous 9/16 -
12-122481879-A-C BCL7A c.359A>C p.Asn120Thr Missense 4/6 -
14-75558030-T-C NEK9 c.2385A>G p.Thr795Thr Synonymous 19/22 -
18-47091686-G-A LIPG c.98-1G>A - IntronicSNV - 1/9
2-169789016-T-C ABCB11 c.3084A>G p.Ala1028Ala Synonymous 24/28 -
13-32906729-A-C BRCA2 c.1114A>C p.Asn372His Missense 10/27 -
2-211542525-A-G CPS1 c.4405-86A>G - intron_variant - 38/38
17-58506748-C-T C17orf64 c.455C>T p.Pro152Leu Missense 5/6 -
11-2190951-C-T TH c.241G>A p.Val81Met Missense 2/13 -
19-46916008-A-G CCDC8 c.60T>C p.Ala20Ala Synonymous 1/1 -
1-66092017-T-A LEPR c.2673+3353T>A - IntronicSNV - 19/19
16-81076821-T-C ATMIN c.718T>C p.Ser240Pro Missense 4/4 -
16-81095099-C-G C16orf46 c.855G>C p.Ala285Ala Synonymous 4/4 -
19-45297373-T-A CBLC c.1285-88T>A - IntronicSNV - 8/10
12-96374381-C-T HAL c.848G>A p.Gly283Asp Missense 16/20 -
2-169780366-T-C ABCB11 c.3766-34A>G - IntronicSNV - 27/27
6-43411659-T-C ABCC10 c.2333-12T>C - IntronicSNV - 8/19
19-33617508-G-A GPATCH1 c.2634G>A p.Arg878Arg Synonymous 19/20 -
16-81077915-T-C ATMIN c.1812T>C p.Ala604Ala Synonymous 4/4 -
16-67969930-A-G PSMB10 c.319T>C p.Leu107Leu Synonymous 4/8 -
16-67969930-A-T PSMB10 c.319T>A p.Leu107Ile Missense 4/8 -
19-50017538-G-A FCGRT c.396G>A p.Lys132Lys Synonymous 4/7 -
3-125856695-C-A ALDH1L1 c.1185G>T p.Leu395Leu Synonymous 10/23 -
17-42475557-C-T GPATCH8 c.3888G>A p.Gly1296Gly Synonymous 8/8 -
19-19976988-G-A ZNF253 c.3+180G>A - IntronicSNV - 1/3
11-116701674-T-A APOC3 c.179+62T>A - IntronicSNV - 3/3
11-61557826-T-C TMEM258 c.113+139A>G - IntronicSNV - 2/3
19-11105608-T-C SMARCA4 c.1524T>C p.His508His Synonymous 9/35 -
14-95088943-A-C SERPINA3 c.1068+115A>C - IntronicSNV - 4/4
1-158576325-T-C OR10Z1 c.97T>C p.Ser33Pro Missense 1/1 -
20-13567973-C-T TASP1 c.327G>A p.Leu109Leu Synonymous 5/14 -
2-65495574-C-CC ACTR2 c.1030-124_1030-124dup - IntronicInsertion - 9/9
20-13567973-C-A TASP1 c.327G>T p.Leu109Leu Synonymous 5/14 -
10-95139526-A-G MYOF c.2001+94T>C - IntronicSNV - 21/53
8-19822810-C-T LPL c.-1-11C>T - IntronicSNV - 9/9
11-68548202-T-G CPT1A c.1364A>C p.Lys455Thr Missense 12/19 -
14-44975918-G-A FSCB c.273C>T p.Thr91Thr Synonymous 1/1 -
5-145493864-T-C LARS c.3336A>G p.Lys1112Lys Synonymous 32/32 -
11-61545842-C-T MYRF c.1877-10C>T - IntronicSNV - 13/25
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
6-26184102-G-T HIST1H2BE c.79G>T p.Gly27Cys Missense 1/1 -
20-24994275-G-A ACSS1 c.1476C>T p.Asn492Asn Synonymous 10/14 -
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 -
12-103246700-C-T PAH c.735G>A p.Val245Val Synonymous 7/13 -
12-103246700-C-G PAH c.735G>C p.Val245Val Synonymous 7/13 -
14-94776034-G-A SERPINA6 c.884+39C>T - IntronicSNV - 3/4
4-25005356-T-C LGI2 c.1355A>G p.Gln452Arg Missense 8/8 -
12-103248924-C-T PAH c.696G>A p.Gln232Gln Synonymous 6/13 -
15-81578189-A-G IL16 c.1332+18A>G - IntronicSNV - 10/18
1-156834364-G-A NTRK1 c.287+144G>A - IntronicSNV - 2/16
16-67964203-T-C CTRL c.518A>G p.His173Arg Missense 6/7 -
12-971291-C-T WNK1 c.1994C>T p.Thr665Ile Missense 8/28 -
3-186501502-C-A EIF4A2 c.29+74C>A - IntronicSNV - 1/10
16-336730-C-G PDIA2 c.1417C>G p.Arg473Gly Missense 9/11 -
16-336730-C-T PDIA2 c.1417C>T p.Arg473Trp Missense 9/11 -
9-6554781-C-A GLDC c.2203G>T p.Val735Leu Missense 19/25 -
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
6-29408204-C-T OR10C1 c.412C>T p.Arg138Trp Missense 1/1 -
9-6554781-C-G GLDC c.2203G>C p.Val735Leu Missense 19/25 -
7-2854010-G-A GNA12 c.310-19233C>T - IntronicSNV - 1/3
19-45451620-T-A APOC2 c.1-116T>A - IntronicSNV - 1/3
2-27822284-A-ACA ZNF512 c.278-166_278-165insCA - IntronicInsertion - 3/13
5-14711275-T-C ANKH c.*31A>G - 3-UTRSNV 12/12 -
9-136132911-C-CC ABO c.259dupG p.Val87Glyfs*269 Frameshift - -
16-4563836-A-C CDIP1 c.102T>G p.Ala34Ala Synonymous 4/6 -
16-4563836-A-G CDIP1 c.102T>C p.Ala34Ala Synonymous 4/6 -
5-50128570-T-A PARP8 c.2234-45T>A - IntronicSNV - 22/25
16-83704667-A-G CDH13 c.1284+90A>G - IntronicSNV - 9/13
16-4415410-G-T CORO7-PAM16 c.840+82C>A - IntronicSNV - 10/30
10-50185055-G-A WDFY4 c.9291+31G>A - IntronicSNV - 59/61
20-35422616-G-A SOGA1 c.2993+162C>T - IntronicSNV - 14/14
3-125865766-C-A ALDH1L1 c.988G>T p.Val330Phe Missense 9/23 -
19-3382176-C-T NFIC c.497C>T p.Pro166Leu Missense 2/9 -
21-45217936-C-T RRP1 c.766C>T p.Arg256Cys Missense 8/13 -
14-94844947-C-T SERPINA1 c.1096G>A p.Glu366Lys Missense 5/5 -
7-48287840-G-C ABCA13 c.1664G>C p.Arg555Pro Missense 14/62 -
9-5763873-C-A RIC1 c.2841+5C>A - IntronicSNV - 19/25
20-34025756-A-G GDF5 c.1-48T>C - 5-UTRSNV 1/2 -
5-9050577-A-G SEMA5A c.2846-8T>C - IntronicSNV - 20/22
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
1-55224773-A-G PARS2 c.62T>C p.Leu21Pro Missense 2/2 -
15-78295765-T-C TBC1D2B c.2456A>G p.Gln819Arg Missense 11/13 -
3-186435370-G-A KNG1 c.39G>A p.Leu13Leu Synonymous 1/10 -
2-44078853-G-A ABCG8 c.453G>A p.Val151Val Synonymous 4/13 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
4-2833200-C-T SH3BP2 c.1242-98C>T - IntronicSNV - 8/12
2-84660748-T-G SUCLG1 c.590-189A>C - IntronicSNV - 5/8
11-58723526-G-A GLYATL1 c.*26G>A - 3-UTRSNV 7/7 -
19-10939792-T-C DNM2 c.2127T>C p.Ala709Ala Synonymous 18/20 -
12-121442199-T-A C12orf43 c.546A>T p.Thr182Thr Synonymous 6/6 -
7-103251161-G-A RELN c.2989C>T p.Leu997Phe Missense 22/65 -
1-9816591-C-G CLSTN1 c.215-23G>C - IntronicSNV - 2/18
7-103251161-G-T RELN c.2989C>A p.Leu997Ile Missense 22/65 -
7-103251161-G-C RELN c.2989C>G p.Leu997Val Missense 22/65 -
19-11319491-G-C DOCK6 c.4959C>G p.Asn1653Lys Missense 39/48 -
7-137600690-C-A CREB3L2 c.388G>T p.Val130Phe Missense 3/12 -
7-137600690-C-T CREB3L2 c.388G>A p.Val130Ile Missense 3/12 -
7-137600690-C-G CREB3L2 c.388G>C p.Val130Leu Missense 3/12 -
16-69963403-G-A WWP2 c.1287G>A p.Thr429Thr Synonymous 13/25 -
18-8069868-C-T PTPRM c.1317C>T p.Asn439Asn Synonymous 8/33 -
19-45395619-A-G TOMM40 c.275-31A>G - IntronicSNV - 2/9
1-109815866-C-T CELSR2 c.8417C>T p.Ala2806Val Missense 32/34 -
19-45448465-T-A APOC4 c.287T>A p.Leu96His Missense 3/3 -
1-109815866-C-A CELSR2 c.8417C>A p.Ala2806Asp Missense 32/34 -
10-93773792-G-A BTAF1 c.4584+6G>A - IntronicSNV - 32/37
17-41926216-C-T CD300LG c.334C>T p.Arg112Trp Missense 2/7 -
15-81598593-T-C IL16 c.3679+86T>C - IntronicSNV - 17/18
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
11-58722860-G-A GLYATL1 c.584+34G>A - IntronicSNV - 6/6
12-95693943-G-A VEZT c.1834G>A p.Val612Met Missense 12/12 -
11-58722860-G-T GLYATL1 c.584+34G>T - IntronicSNV - 6/6
6-111628597-C-G REV3L c.9219G>C p.Arg3073Arg Synonymous 32/33 -
22-38559586-G-C PLA2G6 c.209+5639C>G - IntronicSNV - 2/15
6-111628597-C-T REV3L c.9219G>A p.Arg3073Arg Synonymous 32/33 -
16-70693462-G-A IL34 c.403-59G>A - IntronicSNV - 5/6
1-237819431-C-T RYR2 c.8129+147C>T - IntronicSNV - 53/104
19-7125297-G-A INSR c.3255C>T p.His1085His Synonymous 17/22 -
6-127637099-T-C ECHDC1 c.416+496A>G - IntronicSNV - 4/5
16-72048632-A-G DHODH c.434+61A>G - IntronicSNV - 3/8
7-104714059-A-G KMT2E c.498-7A>G - IntronicSNV - 5/25
16-3724465-G-T TRAP1 c.919C>A p.Arg307Ser Missense 9/18 -
11-116662331-G-T APOA5 c.132C>A p.Ile44Ile Synonymous 3/4 -
1-159558150-G-A APCS c.324G>A p.Pro108Pro Synonymous 2/2 -
17-30696276-A-G ZNF207 c.1072-38A>G - IntronicSNV - 9/10
15-83441049-C-G FSD2 c.1112-69G>C - IntronicSNV - 6/12
13-43462304-C-G EPSTI1 c.*82G>C - 3-UTRSNV 13/13 -
1-63096781-C-A DOCK7 c.1282+130G>T - IntronicSNV - 11/48
20-39986085-A-C LPIN3 c.2037A>C p.Gln679His Missense 16/20 -
19-45368424-C-A NECTIN2 c.89-104C>A - IntronicSNV - 1/5
19-45368424-C-T NECTIN2 c.89-104C>T - IntronicSNV - 1/5
4-72618323-G-A GC c.1307C>T p.Thr436Met Missense 11/13 -
4-72618323-G-T GC c.1307C>A p.Thr436Lys Missense 11/13 -
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
3-186793242-G-A ST6GAL1 c.980-108G>A - IntronicSNV - 7/7
11-116631707-T-C BUD13 c.1037-39A>G - IntronicSNV - 4/9
11-116631707-T-A BUD13 c.1037-39A>T - IntronicSNV - 4/9
18-46476680-C-T SMAD7 c.115G>A p.Gly39Arg Missense 1/4 -
18-46476680-C-G SMAD7 c.115G>C p.Gly39Arg Missense 1/4 -
2-27720385-C-T GCKR c.217-44C>T - IntronicSNV - 2/18
11-116619390-A-T BUD13 c.1767-99T>A - IntronicSNV - 9/9
9-5969249-A-G KIAA2026 c.982T>C p.Leu328Leu Synonymous 3/8 -
2-215661710-T-C BARD1 c.215+75A>G - IntronicSNV - 2/10
1-12320949-T-G VPS13D c.1213-56T>G - IntronicSNV - 11/69
5-74675076-T-C COL4A3BP c.*95A>G - IntronicSNV - 17/17
19-19329924-C-T NCAN c.274C>T p.Pro92Ser Missense 3/15 -
16-57180158-C-T CPNE2 c.1464C>T p.Arg488Arg Synonymous 15/16 -
16-57180158-C-A CPNE2 c.1464C>A p.Arg488Arg Synonymous 15/16 -
11-17436936-A-G ABCC8 c.2256-50T>C - IntronicSNV - 17/38
16-83711887-C-T CDH13 c.1359C>T p.Asp453Asp Synonymous 10/14 -
1-12371807-G-A VPS13D c.6823-63G>A - IntronicSNV - 28/69
10-12123666-C-T DHTKD1 c.310+40C>T - IntronicSNV - 2/16
3-186435561-G-A KNG1 c.195+35G>A - IntronicSNV - 1/9
12-104015999-T-C STAB2 c.487+110T>C - IntronicSNV - 5/68
2-84804548-A-G DNAH6 c.2076+16A>G - IntronicSNV - 13/76
12-56845358-T-C MIP c.607-109A>G - IntronicSNV - 3/3
1-55527323-G-A PCSK9 c.1863+94G>A - IntronicSNV - 11/11
16-836799-A-C RPUSD1 c.511+28T>G - IntronicSNV - 5/5
19-14165127-C-A PALM3 c.1312G>T p.Gly438* Nonsense 7/7 -
16-836799-A-G RPUSD1 c.511+28T>C - IntronicSNV - 5/5
19-13220703-C-A TRMT1 c.1106+26G>T - IntronicSNV - 8/15
3-33543195-C-T CLASP2 c.3747G>A p.Ala1249Ala Synonymous 33/34 -
9-132963129-G-A NCS1 c.65-108G>A - IntronicSNV - 1/7
3-33543195-C-A CLASP2 c.3747G>T p.Ala1249Ala Synonymous 33/34 -
18-67365926-A-G DOK6 c.599+97A>G - IntronicSNV - 5/7
11-67926027-G-C KMT5B c.1786C>G p.Gln596Glu Missense 11/11 -
16-4414727-G-A CORO7-PAM16 c.1045-37C>T - IntronicSNV - 12/30
16-4414727-G-C CORO7-PAM16 c.1045-37C>G - IntronicSNV - 12/30
15-100692953-G-A ADAMTS17 c.1337C>T p.Thr446Ile Missense 10/22 -
14-23587838-G-T CEBPE c.463C>A p.Leu155Met Missense 1/2 -
10-102749069-G-T TWNK c.1102G>T p.Val368Leu Missense 1/5 -
19-45490636-T-C CLPTM1 c.993T>C p.Gly331Gly Synonymous 8/14 -
17-6599365-T-C SLC13A5 c.840-105A>G - IntronicSNV - 6/11
7-27196116-C-T HOXA7 c.49G>A p.Gly17Arg Missense 1/2 -
20-24993220-A-G ACSS1 c.1771+17T>C - IntronicSNV - 12/13
10-119303297-G-C EMX2 c.406+113G>C - IntronicSNV - 1/2
10-119303297-G-A EMX2 c.406+113G>A - IntronicSNV - 1/2
7-27196116-C-G HOXA7 c.49G>C p.Gly17Arg Missense 1/2 -
6-134494570-G-A SGK1 c.618+30C>T - IntronicSNV - 6/13
7-150325175-C-G GIMAP6 c.511G>C p.Gly171Arg Missense 3/3 -
7-150325175-C-T GIMAP6 c.511G>A p.Gly171Ser Missense 3/3 -
5-66441149-C-G MAST4 c.3036C>G p.Ala1012Ala Synonymous 23/29 -
2-65495574-C-CCTACC ACTR2 c.1030-124_1030-123insCTACC - IntronicInsertion - 9/9
19-45667538-G-A TRAPPC6A c.313-33C>T - IntronicSNV - 3/5
18-44087401-C-T LOXHD1 c.5506+100G>A - IntronicSNV - 35/39
12-56866334-T-A GLS2 c.1511+140A>T - IntronicSNV - 15/17
20-3721456-C-T HSPA12B c.44-6C>T - IntronicSNV - 2/12
11-47282929-A-G NR1H3 c.637A>G p.Met213Val Missense 5/9 -
11-61580635-C-T FADS1 c.486+80G>A - IntronicSNV - 2/11
5-150910960-A-G FAT2 c.9811+188T>C - IntronicSNV - 13/22
13-95860197-C-T ABCC4 c.786-18G>A - IntronicSNV - 6/30
3-125855599-G-T ALDH1L1 c.1344+8C>A - IntronicSNV - 11/22
8-23712174-T-G STC1 c.1-138A>C - 5-UTRSNV 1/4 -
3-125855599-G-A ALDH1L1 c.1344+8C>T - IntronicSNV - 11/22
2-27550967-A-G GTF3C2 c.2346T>C p.Pro782Pro Synonymous 17/19 -
18-47093866-AGA-TGG LIPG c.334_336delAGAinsTGG p.Arg112Trp Missense 3/10 -
17-40653240-T-C ATP6V0A1 c.1943T>C p.Val648Ala Missense 17/21 -
1-154407713-T-C IL6R c.807+81T>C - IntronicSNV - 5/9
20-2637237-G-A NOP56 c.1159+42G>A - IntronicSNV - 9/11
11-116766899-T-C SIK3 c.865+70A>G - intron_variant - 6/23
19-11114206-C-T SMARCA4 c.2001+133C>T - IntronicSNV - 13/34
16-81074800-A-C ATMIN c.337-161A>C - IntronicSNV - 1/3
16-81074800-A-G ATMIN c.337-161A>G - IntronicSNV - 1/3
8-75898501-G-T CRISPLD1 c.258+21G>T - IntronicSNV - 2/14
12-56818922-C-T TIMELESS c.1593G>A p.Lys531Lys Synonymous 14/29 -
22-50898302-C-T SBF1 c.3491+79G>A - IntronicSNV - 26/40
2-170103472-G-A LRP2 c.2933C>T p.Thr978Met Missense 21/79 -
12-56866962-C-T GLS2 c.1449+50G>A - IntronicSNV - 14/17
19-45395714-T-C TOMM40 c.339T>C p.Phe113Phe Synonymous 3/10 -
1-181759497-C-A CACNA1E c.5787-84C>A - IntronicSNV - 43/46
18-21425151-C-T LAMA3 c.3719+63C>T - IntronicSNV - 30/74
6-126072853-C-G HEY2 c.84-94C>G - IntronicSNV - 1/4
1-181759497-C-G CACNA1E c.5787-84C>G - IntronicSNV - 43/46
1-35835540-A-G ZMYM4 c.841-90A>G - IntronicSNV - 5/29
6-159183283-G-A SYTL3 c.1313+73G>A - IntronicSNV - 15/16
11-17655363-C-A OTOG c.7245C>A p.Ser2415Ser Synonymous 42/55 -
11-17655363-C-T OTOG c.7245C>T p.Ser2415Ser Synonymous 42/55 -
6-111696129-T-A REV3L c.3429A>T p.Ala1143Ala Synonymous 14/33 -
22-23523285-G-T BCR c.138G>T p.Glu46Asp Missense 1/23 -
18-44584675-G-A KATNAL2 c.186G>A p.Ala62Ala Synonymous 4/15 -
3-46501358-G-A LTF c.44-49C>T - IntronicSNV - 1/16
11-116707684-A-G APOA1 c.200+33T>C - IntronicSNV - 3/3
11-116707684-A-C APOA1 c.200+33T>G - IntronicSNV - 3/3
5-149278856-T-C PDE6A c.1263+82A>G - IntronicSNV - 9/21
9-107651212-T-C ABCA1 c.160+171A>G - IntronicSNV - 3/49
16-71784000-A-T AP1G1 c.1416+113T>A - IntronicSNV - 15/23
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
16-57007446-T-A CETP c.930+24T>A - IntronicSNV - 9/15
16-57007446-T-G CETP c.930+24T>G - IntronicSNV - 9/15
7-150217309-C-G GIMAP7 c.247C>G p.Arg83Gly Missense 2/2 -
7-150217309-C-T GIMAP7 c.247C>T p.Arg83Cys Missense 2/2 -
12-56816814-C-T TIMELESS c.2293-38G>A - IntronicSNV - 18/28
12-56816814-C-A TIMELESS c.2293-38G>T - IntronicSNV - 18/28
19-11310920-C-T DOCK6 c.6101+64G>A - IntronicSNV - 47/47
1-66088701-C-T LEPR c.2673+37C>T - IntronicSNV - 19/19
10-530775-G-C DIP2C c.157+1624C>G - IntronicSNV - 2/36
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
16-83065664-G-A CDH13 c.207G>A p.Ser69Ser Synonymous 3/14 -
12-95668406-T-C VEZT c.849-112T>C - IntronicSNV - 6/11
12-95668406-T-G VEZT c.849-112T>G - IntronicSNV - 6/11
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
2-169763148-T-C G6PC2 c.441-26T>C - IntronicSNV - 3/4
7-92252203-C-T CDK6 c.698+147G>A - IntronicSNV - 6/7
7-92252203-C-G CDK6 c.698+147G>C - IntronicSNV - 6/7
20-20180574-G-C CFAP61 c.1932+28G>C - IntronicSNV - 17/26
3-53269275-T-C TKT c.438-85A>G - IntronicSNV - 4/13
9-6535975-G-T GLDC c.2838+89C>A - IntronicSNV - 23/24
4-77274242-T-C CCDC158 c.2445+34A>G - IntronicSNV - 15/23
11-61674118-C-T RAB3IL1 c.477G>A p.Thr159Thr Synonymous 5/10 -
22-40763699-A-G ADSL c.*1173A>G - IntergenicSNV 13/13 -
1-1275716-T-A DVL1 c.700-20A>T - IntronicSNV - 6/14
5-122509197-A-T PRDM6 c.1496+2395A>T - IntronicSNV - 6/7
19-10742463-G-A SLC44A2 c.620+38G>A - IntronicSNV - 8/21
10-25701341-C-G GPR158 c.1274C>G p.Ala425Gly Missense 4/11 -
19-10742463-G-T SLC44A2 c.620+38G>T - IntronicSNV - 8/21
18-8792894-G-A MTCL1 c.1888-102G>A - IntronicSNV - 7/16
19-54784130-T-C LILRB2 c.59A>G p.His20Arg Missense 3/14 -
2-27712408-C-T IFT172 c.39+74G>A - IntronicSNV - 1/47
1-93995420-A-C FNBP1L c.510+107A>C - IntronicSNV - 6/14
2-21238367-C-T APOB c.3383G>A p.Arg1128His Missense 22/29 -
2-100181858-G-A AFF3 c.3119+91C>T - IntronicSNV - 19/23
3-33558397-C-T CLASP2 c.3345+76G>A - IntronicSNV - 30/33
15-59466489-C-A MYO1E c.2050-50G>T - IntronicSNV - 19/27
1-109815252-A-G CELSR2 c.8055-10A>G - IntronicSNV - 29/33
1-55517883-C-G PCSK9 c.524-68C>G - IntronicSNV - 3/11
9-6535956-G-T GLDC c.2838+108C>A - IntronicSNV - 23/24
1-154479670-C-T TDRD10 c.3-47C>T - IntronicSNV - 2/12
9-6535956-G-C GLDC c.2838+108C>G - IntronicSNV - 23/24
19-45404691-A-G TOMM40 c.946+124A>G - IntronicSNV - 9/9
1-66075586-A-G LEPR c.1753-44A>G - IntronicSNV - 12/19
10-99439556-A-T AVPI1 c.107T>A p.Leu36Gln Missense 2/3 -
14-71524529-A-G PCNX1 c.4852+88A>G - IntronicSNV - 26/35
10-99439556-A-C AVPI1 c.107T>G p.Leu36Arg Missense 2/3 -
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
9-77742627-A-G OSTF1 c.132+92A>G - IntronicSNV - 3/9
2-130941689-T-C MZT2B c.319+1341T>C - IntronicSNV - 2/2
5-74877266-C-T POLK c.927C>T p.Ala309Ala Synonymous 7/15 -
19-49300431-G-A BCAT2 c.562+17C>T - IntronicSNV - 5/8
16-71682796-T-C PHLPP2 c.3969A>G p.Leu1323Leu Synonymous 19/19 -
1-63096781-C-G DOCK7 c.1282+130G>C - IntronicSNV - 11/48
4-122254262-A-C QRFPR c.562-51T>G - IntronicSNV - 3/5
16-83813806-A-T CDH13 c.1915A>T p.Asn639Tyr Missense 12/14 -
1-109839400-C-T MYBPHL c.730+5G>A - IntronicSNV - 5/8
2-24276736-T-C FKBP1B c.38-36T>C - IntronicSNV - 1/3
19-19744988-C-T GMIP c.2096G>A p.Arg699Gln Missense 19/21 -
19-19744988-C-A GMIP c.2096G>T p.Arg699Leu Missense 19/21 -
19-19744988-C-G GMIP c.2096G>C p.Arg699Pro Missense 19/21 -
1-55524116-C-A PCSK9 c.1355-56C>A - IntronicSNV - 8/11
1-55524116-C-G PCSK9 c.1355-56C>G - IntronicSNV - 8/11
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
20-32232296-C-T CBFA2T2 c.1632C>T p.His544His Synonymous 11/11 -
20-32232296-C-A CBFA2T2 c.1632C>A p.His544Gln Missense 11/11 -
19-10939792-T-G DNM2 c.2127T>G p.Ala709Ala Synonymous 18/20 -
4-3519783-G-A LRPAP1 c.729C>T p.His243His Synonymous 5/8 -
2-3482598-A-T TRAPPC12 c.1878-19A>T - IntronicSNV - 10/11
13-77531652-G-A ACOD1 c.978G>A p.Ser326Ser Synonymous 5/5 -
19-45971961-C-G FOSB c.117C>G p.Ala39Ala Synonymous 1/4 -
19-19746151-G-T GMIP c.1560+73C>A - IntronicSNV - 15/20
6-44218225-A-C HSP90AB1 c.846A>C p.Leu282Leu Synonymous 6/12 -
16-71660310-G-A MARVELD3 c.178G>A p.Glu60Lys Missense 1/3 -
17-4718027-G-A PLD2 c.1173+21G>A - IntronicSNV - 12/24
15-84473531-G-A ADAMTSL3 c.363+84G>A - IntronicSNV - 5/29
1-49332969-A-G AGBL4 c.595-67T>C - IntronicSNV - 5/13
1-49332969-A-C AGBL4 c.595-67T>G - IntronicSNV - 5/13
11-116732856-A-G SIK3 c.2085+62T>C - intron_variant - 16/23
15-59376531-T-C RNF111 c.2423+78T>C - IntronicSNV - 9/13
16-72162966-G-T PMFBP1 c.1949C>A p.Thr650Lys Missense 13/21 -
14-23872505-T-C MYH6 c.898+52A>G - IntronicSNV - 10/38
16-57284259-C-T ARL2BP c.294-64C>T - IntronicSNV - 4/5
7-103205617-A-G RELN c.5210+108T>C - IntronicSNV - 34/64
19-19746151-G-C GMIP c.1560+73C>G - IntronicSNV - 15/20
19-1488257-G-A PCSK4 c.317C>T p.Thr106Met Missense 3/15 -
14-21467805-C-G SLC39A2 c.115+85C>G - IntronicSNV - 1/3
17-4718027-G-T PLD2 c.1173+21G>T - IntronicSNV - 12/24
19-11141345-G-C SMARCA4 c.3383-61G>C - IntronicSNV - 24/34
11-67021929-G-A KDM2A c.3307+40G>A - IntronicSNV - 20/20
19-11324890-T-C DOCK6 c.4338+61A>G - IntronicSNV - 34/47
19-11324890-T-A DOCK6 c.4338+61A>T - IntronicSNV - 34/47
19-11324890-T-G DOCK6 c.4338+61A>C - IntronicSNV - 34/47
17-6591098-A-T SLC13A5 c.1438-113T>A - IntronicSNV - 10/11
15-66850204-A-G LCTL c.778T>C p.Leu260Leu Synonymous 9/14 -
22-19187375-G-A CLTCL1 c.3766-23C>T - IntronicSNV - 23/32
16-57284259-C-G ARL2BP c.294-64C>G - IntronicSNV - 4/5
19-14165127-C-T PALM3 c.1312G>A p.Gly438Arg Missense 7/7 -
12-93131203-A-C PLEKHG7 c.1-92A>C - 5-UTRSNV 2/12 -
7-143092184-C-T EPHA1 c.2145+30G>A - IntronicSNV - 13/17
16-72198642-G-A PMFBP1 c.165+21C>T - IntronicSNV - 3/20
11-116703671-G-T APOC3 c.*71G>T - 3-UTRSNV 4/4 -
11-61564299-G-T FEN1 c.*323G>T - 3-UTRSNV 2/2 -
2-65495571-T-C ACTR2 c.1030-127T>C - IntronicSNV - 9/9
19-19329924-C-A NCAN c.274C>A p.Pro92Thr Missense 3/15 -
8-91953077-G-T NECAB1 c.811G>T p.Ala271Ser Missense 10/13 -
14-94756943-G-C SERPINA10 c.1-13C>G - 5-UTRSNV 2/5 -
14-94756943-G-A SERPINA10 c.1-13C>T - 5-UTRSNV 2/5 -
7-48313949-C-T ABCA13 c.4686C>T p.Tyr1562Tyr Synonymous 17/62 -
6-89559425-A-G RNGTT c.1104+49T>C - IntronicSNV - 10/15
12-56816978-C-T TIMELESS c.2292+80G>A - IntronicSNV - 18/28
17-4712617-C-T PLD2 c.514C>T p.Arg172Cys Missense 6/25 -
10-530775-G-A DIP2C c.157+1624C>T - IntronicSNV - 2/36
3-52432832-C-G DNAH1 c.12090-34C>G - IntronicSNV - 75/77
1-159683678-AAC-ATG CRP c.310_312delGTTinsATG p.Val104Met Missense 2/2 -
8-55055115-T-C MRPL15 c.430-108T>C - IntronicSNV - 3/4
19-10742287-C-T SLC44A2 c.497-15C>T - IntronicSNV - 7/21
19-19456096-A-C MAU2 c.1156-17A>C - IntronicSNV - 11/18
4-55980456-C-A KDR c.659-24G>T - IntronicSNV - 5/29
5-137892170-G-A HSPA9 c.1933C>T p.Leu645Leu Synonymous 16/17 -
3-46539699-C-A RTP3 c.147C>A p.Thr49Thr Synonymous 1/2 -
3-46539699-C-T RTP3 c.147C>T p.Thr49Thr Synonymous 1/2 -
15-58855748-C-T LIPC c.1214C>T p.Thr405Met Missense 8/9 -
19-33882255-G-A PEPD c.1098C>T p.His366His Synonymous 13/15 -
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 -
11-61605215-A-G FADS2 c.208-35A>G - IntronicSNV - 1/11
19-20003109-A-G ZNF253 c.1053A>G p.Leu351Leu Synonymous 4/4 -
15-59499472-G-A MYO1E c.1530+1408C>T - IntronicSNV - 14/27
2-20494189-T-C PUM2 c.1100A>G p.Asn367Ser Missense 9/21 -
19-11113902-G-A SMARCA4 c.1943+67G>A - IntronicSNV - 12/34
20-25000733-C-G ACSS1 c.1159G>C p.Ala387Pro Missense 7/14 -
3-125836796-C-T ALDH1L1 c.1982+52G>A - IntronicSNV - 17/22
5-137897589-A-C HSPA9 c.973-111T>G - IntronicSNV - 9/16
9-140323986-G-A NOXA1 c.612+151G>A - IntronicSNV - 5/13
12-92537846-A-G BTG1 c.*10T>C - 3-UTRSNV 2/2 -
16-72162966-G-A PMFBP1 c.1949C>T p.Thr650Met Missense 13/21 -
2-101911651-A-G RNF149 c.461-8T>C - IntronicSNV - 1/6
19-45409167-C-T APOE c.-24+69C>T - intron_variant - 1/3
2-84838708-A-T DNAH6 c.3295-90A>T - IntronicSNV - 21/76
22-38229061-A-G ANKRD54 c.624T>C p.Ala208Ala Synonymous 6/8 -
1-49332724-A-T AGBL4 c.634+139T>A - IntronicSNV - 6/13
1-49332724-A-C AGBL4 c.634+139T>G - IntronicSNV - 6/13
7-64389067-G-A ZNF273 c.1361G>A p.Gly454Glu Missense 4/4 -
5-148989259-G-A ARHGEF37 c.458+1G>A - IntronicSNV - 4/12
7-92244422-C-T CDK6 c.*32G>A - 3-UTRSNV 8/8 -
8-146067125-C-T ZNF7 c.633C>T p.Ile211Ile Synonymous 5/5 -
1-55518166-G-T PCSK9 c.657+82G>T - IntronicSNV - 4/11
6-34803947-C-T UHRF1BP1 c.855C>T p.Ala285Ala Synonymous 8/21 -
4-77290561-G-C CCDC158 c.1347+18C>G - IntronicSNV - 10/23
4-77290561-G-A CCDC158 c.1347+18C>T - IntronicSNV - 10/23
19-10395031-G-C ICAM1 c.925+35G>C - IntronicSNV - 4/6
19-20044041-G-A ZNF93 c.277G>A p.Asp93Asn Missense 4/4 -
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
20-25038644-CT-CC ACSS1 c.94_95delAGinsCC p.Ser32Pro Missense 1/14 -
5-140182946-CG-TA PCDHA3 c.2164_2165delCGinsTA p.Arg722* Nonsense 1/4 -
2-65495570-A-C ACTR2 c.1030-128A>C - IntronicSNV - 9/9
13-99478258-T-C DOCK9 c.4958-64A>G - IntronicSNV - 44/56
3-186442798-C-G KNG1 c.392-79C>G - IntronicSNV - 3/9
17-41062979-G-T G6PC c.610G>T p.Ala204Ser Missense 5/5 -
16-27494501-C-A GTF3C1 c.4002-55G>T - IntronicSNV - 25/36
11-116692293-C-T APOA4 c.481G>A p.Ala161Thr Missense 3/3 -
11-116692293-C-A APOA4 c.481G>T p.Ala161Ser Missense 3/3 -
12-121471337-G-A OASL c.408C>T p.Leu136Leu Synonymous 2/6 -
11-61547237-C-T MYRF c.2221-77C>T - IntronicSNV - 16/25
12-6715566-G-A CHD4 c.1-27C>T - 5-UTRSNV 2/40 -
1-66088701-C-A LEPR c.2673+37C>A - IntronicSNV - 19/19
3-186571123-G-C ADIPOQ c.214+62G>C - IntronicSNV - 2/2
15-59185456-A-AA SLTM c.1734+23_1734+23dup - IntronicInsertion - 13/20
1-55518166-G-C PCSK9 c.657+82G>C - IntronicSNV - 4/11
1-55518166-G-A PCSK9 c.657+82G>A - IntronicSNV - 4/11
16-70287177-A-C AARS c.2715T>G p.Val905Val Synonymous 20/21 -
3-186507922-C-T RFC4 c.996+9G>A - IntronicSNV - 10/10
5-176720766-A-G NSD1 c.5657-67A>G - IntronicSNV - 23/23
7-73019975-A-G MLXIPL c.901+43T>C - IntronicSNV - 7/16
19-45397229-G-A TOMM40 c.549G>A p.Ser183Ser Synonymous 6/10 -
19-11136215-C-G SMARCA4 c.3168+31C>G - IntronicSNV - 22/34
6-111528041-T-C SLC16A10 c.1086+103T>C - IntronicSNV - 4/5
1-66036441-A-G LEPR c.326A>G p.Lys109Arg Missense 4/20 -
7-73010442-C-T MLXIPL c.2058+41G>A - IntronicSNV - 13/16
12-971291-C-G WNK1 c.1994C>G p.Thr665Arg Missense 8/28 -
16-72184566-C-A PMFBP1 c.577G>T p.Glu193* Nonsense 5/21 -
6-34725657-C-CATC SNRPC c.9-32_9-31insATC - IntronicInsertion - 1/5
17-42827949-G-A DBF4B c.1190-14G>A - IntronicSNV - 13/14
3-186518806-C-A RFC4 c.210+100G>T - IntronicSNV - 3/10
19-10742170-A-G SLC44A2 c.455A>G p.Gln152Arg Missense 7/22 -
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
15-78393281-C-T SH2D7 c.686C>T p.Ser229Phe Missense 5/6 -
15-78393281-C-A SH2D7 c.686C>A p.Ser229Tyr Missense 5/6 -
12-56869578-T-TT GLS2 c.871-112_871-112dup - IntronicInsertion - 8/17
6-111527696-C-T SLC16A10 c.943-99C>T - IntronicSNV - 3/5
17-39635668-C-T KRT35 c.642G>A p.Lys214Lys Synonymous 3/8 -
16-71800384-T-A AP1G1 c.652-897A>T - IntronicSNV - 7/23
19-18557257-G-A ELL c.1566C>T p.Arg522Arg Synonymous 10/12 -
1-63001120-A-C DOCK7 c.3518+44T>G - IntronicSNV - 28/48
17-79495519-C-T FSCN2 c.1-39C>T - 5-UTRSNV 1/5 -
16-72153125-C-T PMFBP1 c.*112G>A - 3-UTRSNV 21/21 -
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
3-53267100-C-A TKT c.748+72G>T - IntronicSNV - 6/13
11-116693464-C-T APOA4 c.87G>A p.Thr29Thr Synonymous 2/3 -
2-84667988-G-A SUCLG1 c.589+183C>T - IntronicSNV - 5/8
17-3436080-C-T TRPV3 c.936G>A p.Thr312Thr Synonymous 8/18 -
13-78134086-C-T SCEL c.221+88C>T - IntronicSNV - 4/32
9-6556242-C-T GLDC c.2113G>A p.Val705Met Missense 18/25 -
16-71773190-G-T AP1G1 c.2063C>A p.Pro688His Missense 21/24 -
2-27910706-A-C SLC4A1AP c.2117-95A>C - IntronicSNV - 10/13
1-63001120-A-T DOCK7 c.3518+44T>A - IntronicSNV - 28/48
16-72153125-C-G PMFBP1 c.*112G>C - 3-UTRSNV 21/21 -
3-53267100-C-T TKT c.748+72G>A - IntronicSNV - 6/13
11-116693464-C-G APOA4 c.87G>C p.Thr29Thr Synonymous 2/3 -
15-59500405-T-C MYO1E c.1530+475A>G - IntronicSNV - 14/27
17-6942030-T-C SLC16A13 c.903T>C p.Ala301Ala Synonymous 3/4 -
13-78134086-C-A SCEL c.221+88C>A - IntronicSNV - 4/32
21-43531808-A-C UMODL1 c.2092A>C p.Thr698Pro Missense 12/23 -
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
2-44202222-A-C LRPPRC c.864+8T>G - IntronicSNV - 7/37
19-54782919-C-G LILRB2 c.703G>C p.Val235Leu Missense 6/14 -
19-54782919-C-T LILRB2 c.703G>A p.Val235Met Missense 6/14 -
1-245020020-T-G HNRNPU c.1743+10A>C - IntronicSNV - 9/13
19-55450696-G-T NLRP7 c.1491C>A p.Ile497Ile Synonymous 4/11 -
19-55450696-G-A NLRP7 c.1491C>T p.Ile497Ile Synonymous 4/11 -
11-116701354-G-A APOC3 c.55+1G>A - IntronicSNV - 2/3
1-113217696-C-T MOV10 c.137+25C>T - IntronicSNV - 2/20
3-48601774-A-G COL7A1 c.*65T>C - 3-UTRSNV 118/118 -
16-81095363-C-G C16orf46 c.591G>C p.Leu197Leu Synonymous 4/4 -
16-81095363-C-A C16orf46 c.591G>T p.Leu197Leu Synonymous 4/4 -
6-35378756-C-G PPARD c.1-109C>G - IntronicSNV - 2/7
19-5219952-G-C PTPRS c.3763C>G p.Pro1255Ala Missense 22/38 -
16-68732169-G-A CDH3 c.2356G>A p.Gly786Ser Missense 16/16 -
11-117095283-C-T PCSK7 c.915+134G>A - IntronicSNV - 7/16
17-4721376-A-G PLD2 c.1895A>G p.Glu632Gly Missense 18/25 -
17-4721376-A-C PLD2 c.1895A>C p.Glu632Ala Missense 18/25 -
18-47406913-A-G MYO5B c.3046-88T>C - IntronicSNV - 22/39
19-5219952-G-T PTPRS c.3763C>A p.Pro1255Thr Missense 22/38 -
16-71406147-G-A CALB2 c.171+15G>A - IntronicSNV - 2/10
15-59500117-T-A MYO1E c.1530+763A>T - IntronicSNV - 14/27
20-24994275-G-C ACSS1 c.1476C>G p.Asn492Lys Missense 10/14 -
2-65488538-G-A ACTR2 c.896+12G>A - IntronicSNV - 8/9
22-42274034-G-T SREBF2 c.1668G>T p.Leu556Leu Synonymous 9/19 -
5-74685520-A-G COL4A3BP c.1189-8T>C - IntronicSNV - 11/17
11-61551356-T-A MYRF c.3033T>A p.Ser1011Arg Missense 23/26 -
11-61551356-T-C MYRF c.3033T>C p.Ser1011Ser Synonymous 23/26 -
4-69334413-C-T TMPRSS11E c.259-184C>T - IntronicSNV - 3/9
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
1-177225022-C-G BRINP2 c.270-33C>G - IntronicSNV - 2/7
12-109605935-G-A ACACB c.925+96G>A - IntronicSNV - 4/52
7-73803303-C-T CLIP2 c.2564-130C>T - IntronicSNV - 12/16
15-50763762-T-G USP8 c.687-68T>G - IntronicSNV - 7/19
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
15-43815819-G-A MAP1A c.2148G>A p.Ser716Ser Synonymous 4/6 -
2-84652864-C-T SUCLG1 c.826-137G>A - IntronicSNV - 7/8
12-109605935-G-T ACACB c.925+96G>T - IntronicSNV - 4/52
15-50763762-T-A USP8 c.687-68T>A - IntronicSNV - 7/19
16-69729029-G-A NFAT5 c.4133-10G>A - IntronicSNV - 14/15
12-32875454-C-T DNM1L c.966C>T p.Tyr322Tyr Synonymous 9/20 -
9-107646756-G-A ABCA1 c.254C>T p.Pro85Leu Missense 4/50 -
3-186502665-C-A EIF4A2 c.209-86C>A - IntronicSNV - 3/10
6-34831866-G-A UHRF1BP1 c.3303G>A p.Thr1101Thr Synonymous 15/21 -
19-11031464-C-G CARM1 c.1424+40C>G - IntronicSNV - 12/15
19-11031464-C-A CARM1 c.1424+40C>A - IntronicSNV - 12/15
1-68614320-G-A WLS c.996C>T p.Ile332Ile Synonymous 7/12 -
1-159683438-C-A CRP c.552G>T p.Leu184Leu Synonymous 2/2 -
1-159683438-C-T CRP c.552G>A p.Leu184Leu Synonymous 2/2 -
22-24921693-T-C UPB1 c.1086T>C p.Tyr362Tyr Synonymous 10/10 -
1-159683438-C-G CRP c.552G>C p.Leu184Leu Synonymous 2/2 -
17-30264476-G-A SUZ12 c.211G>A p.Val71Met Missense 1/16 -
1-149906413-T-C MTMR11 c.259A>G p.Met87Val Missense 5/17 -
6-129921771-T-C ARHGAP18 c.1572+16A>G - IntronicSNV - 11/14
11-116660813-G-A APOA5 c.*31C>T - 3-UTRSNV 4/4 -
2-65481008-A-C ACTR2 c.600+10A>C - IntronicSNV - 6/9
11-61539020-C-T MYRF c.762C>T p.Pro254Pro Synonymous 6/26 -
11-61539020-C-G MYRF c.762C>G p.Pro254Pro Synonymous 6/26 -
10-70722989-A-C DDX21 c.608-58A>C - IntronicSNV - 3/14
10-102749069-G-A TWNK c.1102G>A p.Val368Ile Missense 1/5 -
10-70722989-A-G DDX21 c.608-58A>G - IntronicSNV - 3/14
15-59376531-T-A RNF111 c.2423+78T>A - IntronicSNV - 9/13
12-121431300-C-T HNF1A c.527-23C>T - IntronicSNV - 2/9
13-114523994-G-A GAS6 c.1883-3C>T - IntronicSNV - 14/14
4-2833200-C-G SH3BP2 c.1242-98C>G - IntronicSNV - 8/12
19-45396144-C-T TOMM40 c.393C>T p.Phe131Phe Synonymous 4/10 -
17-41251931-G-A BRCA1 c.442-34C>T - IntronicSNV - 6/22
1-93580992-C-T MTF2 c.484-35C>T - IntronicSNV - 5/14
3-171969077-C-G FNDC3B c.536C>G p.Thr179Ser Missense 6/26 -
16-56691920-C-T MT1F c.1-51C>T - 5-UTRSNV 1/3 -
16-87637032-C-T JPH3 c.280C>T p.Arg94Cys Missense 1/2 -
3-125856916-A-G ALDH1L1 c.1077-113T>C - IntronicSNV - 9/22
3-112066360-C-T CD200 c.497-45C>T - IntronicSNV - 4/6
3-48622168-G-A COL7A1 c.4046C>T p.Pro1349Leu Missense 34/118 -
11-63994510-C-G NUDT22 c.386C>G p.Thr129Arg Missense 2/6 -
4-55980456-C-T KDR c.659-24G>A - IntronicSNV - 5/29
1-35576145-C-G ZMYM1 c.961+97C>G - IntronicSNV - 7/9
19-45396973-G-A TOMM40 c.436-64G>A - IntronicSNV - 4/9
11-76990492-G-C GDPD4 c.54-48C>G - IntronicSNV - 3/16
6-12163944-C-T HIVEP1 c.7407C>T p.Ile2469Ile Synonymous 9/9 -
6-111628626-C-T REV3L c.9190G>A p.Val3064Ile Missense 32/33 -
2-27730817-G-A GCKR c.1241-27G>A - IntronicSNV - 14/18
2-27558252-A-G GTF3C2 c.1576+213T>C - IntronicSNV - 10/18
11-61670037-C-T RAB3IL1 c.900-24G>A - IntronicSNV - 7/9
1-35576145-C-T ZMYM1 c.961+97C>T - IntronicSNV - 7/9
16-55862682-G-A CES1 c.254C>T p.Pro85Leu Missense 2/14 -
2-169780366-T-A ABCB11 c.3766-34A>T - IntronicSNV - 27/27
12-121416622-C-T HNF1A c.51C>T p.Leu17Leu Synonymous 1/10 -
12-121416622-C-G HNF1A c.51C>G p.Leu17Leu Synonymous 1/10 -
1-120464481-T-C NOTCH2 c.5214-49A>G - IntronicSNV - 28/33
14-91804487-G-A CCDC88C c.912C>T p.Asp304Asp Synonymous 10/30 -
1-233335836-G-T PCNX2 c.2974+64C>A - IntronicSNV - 14/33
11-61582708-T-C FADS1 c.375+1319A>G - IntronicSNV - 1/11
16-81094951-A-G C16orf46 c.1003T>C p.Tyr335His Missense 4/4 -
19-11332570-T-C DOCK6 c.3507A>G p.Leu1169Leu Synonymous 28/48 -
17-59485555-C-T TBX2 c.1827C>T p.Ser609Ser Synonymous 7/7 -
17-59485555-C-G TBX2 c.1827C>G p.Ser609Arg Missense 7/7 -
2-44078853-G-T ABCG8 c.453G>T p.Val151Val Synonymous 4/13 -
16-67973998-C-T LCAT c.1132G>A p.Glu378Lys Missense 6/6 -
2-211442306-C-T CPS1 c.471+72C>T - intron_variant - 5/38
7-27196116-C-A HOXA7 c.49G>T p.Gly17Trp Missense 1/2 -
3-186334969-C-T AHSG c.410-7C>T - IntronicSNV - 3/6
20-33609209-C-T TRPC4AP c.1052-50G>A - IntronicSNV - 8/18
11-116701674-T-C APOC3 c.179+62T>C - IntronicSNV - 3/3
22-19197896-T-C CLTCL1 c.3189A>G p.Ala1063Ala Synonymous 20/33 -
12-103238017-C-T PAH c.1065+97G>A - IntronicSNV - 10/12
11-68562328-C-T CPT1A c.823G>A p.Ala275Thr Missense 8/19 -
11-68562328-C-G CPT1A c.823G>C p.Ala275Pro Missense 8/19 -
7-158436924-T-C NCAPG2 c.3380+57A>G - IntronicSNV - 27/27
19-49318380-G-A HSD17B14 c.388C>T p.Arg130Trp Missense 6/9 -
19-13220703-C-G TRMT1 c.1106+26G>C - IntronicSNV - 8/15
19-13220703-C-T TRMT1 c.1106+26G>A - IntronicSNV - 8/15
15-53809958-A-C WDR72 c.3254-7T>G - IntronicSNV - 19/19
1-33957152-T-G ZSCAN20 c.1294T>G p.Tyr432Asp Missense 6/8 -
16-81116383-T-G GCSH c.*88A>C - 3-UTRSNV 5/5 -
16-55862682-G-C CES1 c.254C>G p.Pro85Arg Missense 2/14 -
7-72857049-A-G BAZ1B c.4094+6T>C - IntronicSNV - 18/19
19-41594899-C-A CYP2A13 c.246C>A p.Cys82* Nonsense 2/9 -
19-41594899-C-T CYP2A13 c.246C>T p.Cys82Cys Synonymous 2/9 -
19-45404431-T-C TOMM40 c.844-34T>C - IntronicSNV - 8/9
19-45396219-C-T TOMM40 c.435+33C>T - IntronicSNV - 4/9
19-49318380-G-T HSD17B14 c.388C>A p.Arg130Arg Synonymous 6/9 -
17-7077642-G-A ASGR1 c.443-34C>T - IntronicSNV - 6/8
19-14165361-C-G PALM3 c.1078G>C p.Gly360Arg Missense 7/7 -
17-6599288-C-T SLC13A5 c.840-28G>A - IntronicSNV - 6/11
11-117097952-C-T PCSK7 c.690G>A p.Thr230Thr Synonymous 5/17 -
3-124689598-C-T HEG1 c.4044G>A p.Pro1348Pro Synonymous 17/17 -
7-128475304-C-T FLNC c.353-76C>T - IntronicSNV - 1/46
12-121435475-G-A HNF1A c.1501+7G>A - IntronicSNV - 7/9
12-56956213-T-C RBMS2 c.79T>C p.Leu27Leu Synonymous 2/14 -
2-3482598-A-G TRAPPC12 c.1878-19A>G - IntronicSNV - 10/11
11-67021930-C-A KDM2A c.3307+41C>A - IntronicSNV - 20/20
4-8376983-G-A ACOX3 c.1654-104C>T - IntronicSNV - 14/16
12-48185165-G-A HDAC7 c.1823-74C>T - IntronicSNV - 14/24
8-23004629-T-C TNFRSF10D c.371-44A>G - IntronicSNV - 3/8
8-23004629-T-G TNFRSF10D c.371-44A>C - IntronicSNV - 3/8
18-2589929-A-C NDC80 c.871-88A>C - IntronicSNV - 9/16
5-74681773-T-C COL4A3BP c.1371A>G p.Glu457Glu Synonymous 13/18 -
21-22910123-T-G NCAM2 c.2403-44T>G - IntronicSNV - 17/17
21-22910123-T-A NCAM2 c.2403-44T>A - IntronicSNV - 17/17
17-81052130-A-G METRNL c.746A>G p.His249Arg Missense 4/4 -
4-8608634-C-T CPZ c.1035+9C>T - IntronicSNV - 5/9
1-245020020-T-C HNRNPU c.1743+10A>G - IntronicSNV - 9/13
12-121432302-T-G HNF1A c.955+94T>G - IntronicSNV - 4/9
7-103207234-T-C RELN c.4589-28A>G - IntronicSNV - 31/64
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
15-59347929-C-A RNF111 c.1056C>A p.Ser352Ser Synonymous 4/14 -
20-43248853-T-C ADA c.1078+87A>G - IntronicSNV - 11/11
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
1-226175477-T-C SDE2 c.1134+120A>G - IntronicSNV - 6/6
1-68614320-G-C WLS c.996C>G p.Ile332Met Missense 7/12 -
16-84075593-G-A SLC38A8 c.170C>T p.Pro57Leu Missense 1/10 -
6-126669479-C-A CENPW c.241-133C>A - IntronicSNV - 2/2
14-94844947-C-G SERPINA1 c.1096G>C p.Glu366Gln Missense 5/5 -
19-49983461-A-G FLT3LG c.482-94A>G - IntronicSNV - 6/8
3-183911058-T-C ABCF3 c.1883+36T>C - IntronicSNV - 19/20
3-186571123-G-T ADIPOQ c.214+62G>T - IntronicSNV - 2/2
16-70287177-A-G AARS c.2715T>C p.Val905Val Synonymous 20/21 -
1-108185309-G-A VAV3 c.1846C>T p.Pro616Ser Missense 20/27 -
1-46500562-G-A MAST2 c.4221G>A p.Ser1407Ser Synonymous 29/29 -
6-34825662-T-C UHRF1BP1 c.1735T>C p.Leu579Leu Synonymous 13/21 -
19-11034039-T-A YIPF2 c.879A>T p.Pro293Pro Synonymous 9/10 -
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
16-81124275-G-A GCSH c.159C>T p.Phe53Phe Synonymous 2/5 -
12-121426594-G-A HNF1A c.327-42G>A - IntronicSNV - 1/9
10-99349538-G-A C10orf62 c.1-117G>A - 5-UTRSNV 1/1 -
19-47992900-G-A NAPA c.786+68C>T - IntronicSNV - 10/10
6-35048899-T-C ANKS1A c.2673T>C p.Pro891Pro Synonymous 17/24 -
16-4415455-C-G CORO7-PAM16 c.840+37G>C - IntronicSNV - 10/30
10-99349538-G-T C10orf62 c.1-117G>T - 5-UTRSNV 1/1 -
19-10671912-T-G KRI1 c.536A>C p.Asp179Ala Missense 7/19 -
12-69967820-A-G FRS2 c.612A>G p.Glu204Glu Synonymous 10/10 -
4-145579907-G-A HHIP c.473-35G>A - IntronicSNV - 2/12
11-57100472-G-C SSRP1 c.498C>G p.Tyr166* Nonsense 5/17 -
18-29078220-G-A DSG2 c.6G>A p.Ala2Ala Synonymous 1/15 -
16-57007451-G-A CETP c.930+29G>A - IntronicSNV - 9/15
2-65481008-A-T ACTR2 c.600+10A>T - IntronicSNV - 6/9
5-74984818-A-T POC5 c.1054+19T>A - IntronicSNV - 8/10
18-47566647-A-G MYO5B c.176T>C p.Leu59Pro Missense 3/40 -
6-37631863-G-A MDGA1 c.87C>T p.Ile29Ile Synonymous 2/17 -
7-72971728-C-A BCL7B c.92+89G>T - IntronicSNV - 1/5
1-62960101-A-G DOCK7 c.4969T>C p.Leu1657Leu Synonymous 39/49 -
4-103184239-G-A SLC39A8 c.1345C>T p.Leu449Phe Missense 8/8 -
7-72971728-C-T BCL7B c.92+89G>A - IntronicSNV - 1/5
19-11597711-C-A ZNF653 c.1344-16G>T - IntronicSNV - 5/8
16-71808235-C-T AP1G1 c.326+136G>A - IntronicSNV - 3/23
3-52554376-C-T STAB1 c.5500-40C>T - IntronicSNV - 52/68
15-51676232-A-G GLDN c.541+143A>G - IntronicSNV - 4/9
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
22-36556964-C-T APOL3 c.-498-127G>A - intron_variant - 2/4
1-66102257-G-A LEPR c.3057G>A p.Pro1019Pro Synonymous 20/20 -
19-2732688-G-A SLC39A3 c.*61C>T - 3-UTRSNV 3/3 -
2-211540489-C-A CPS1 c.4217C>A p.Ala1406Asp Missense 37/39 -
11-57100472-G-A SSRP1 c.498C>T p.Tyr166Tyr Synonymous 5/17 -
11-61615542-C-T FADS2 c.619-89C>T - IntronicSNV - 4/11
6-111539925-C-G SLC16A10 c.1087-92C>G - IntronicSNV - 4/5
19-5211624-G-A PTPRS c.5211C>T p.Asn1737Asn Synonymous 33/38 -
1-154420778-T-C IL6R c.996+131T>C - IntronicSNV - 7/9
19-19130096-C-T SUGP2 c.1730-58G>A - IntronicSNV - 3/10
18-34901833-C-T CELF4 c.381G>A p.Pro127Pro Synonymous 3/13 -
3-58415567-C-T PDHB c.701-41G>A - IntronicSNV - 7/9
18-34901833-C-G CELF4 c.381G>C p.Pro127Pro Synonymous 3/13 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
12-121434833-G-A HNF1A c.1309+288G>A - IntronicSNV - 6/9
2-84668706-A-C SUCLG1 c.319-123T>G - IntronicSNV - 3/8
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
3-33612083-A-C CLASP2 c.2127+136T>G - IntronicSNV - 21/33
1-62912919-C-T USP1 c.1250-93C>T - IntronicSNV - 6/8
19-11558702-G-C PRKCSH c.1096+98G>C - IntronicSNV - 12/17
6-96656885-T-C FUT9 c.*4774T>C - 3-UTRSNV 3/3 -
6-34735883-T-C SNRPC c.250+109T>C - IntronicSNV - 4/5
15-86064909-T-C AKAP13 c.181+103T>C - IntronicSNV - 3/36
10-99359739-T-C HOGA1 c.604-85T>C - IntronicSNV - 4/6
2-169801488-A-G ABCB11 c.2344-17T>C - IntronicSNV - 19/27
19-20044041-G-T ZNF93 c.277G>T p.Asp93Tyr Missense 4/4 -
19-45451662-G-A APOC2 c.1-74G>A - IntronicSNV - 1/3
17-27998978-C-T SSH2 c.703G>A p.Asp235Asn Missense 8/15 -
2-271797-G-A ACP1 c.44-69G>A - IntronicSNV - 1/5
3-186791817-A-C ST6GAL1 c.805-130A>C - IntronicSNV - 6/7
3-186791817-A-T ST6GAL1 c.805-130A>T - IntronicSNV - 6/7
15-91795227-C-T SV2B c.630C>T p.Ile210Ile Synonymous 4/14 -
12-103260273-T-G PAH c.509+101A>C - IntronicSNV - 5/12
16-71780485-G-T AP1G1 c.1739+6C>A - IntronicSNV - 18/23
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
1-54722625-T-C SSBP3 c.447+1117A>G - IntronicSNV - 6/16
19-35803238-G-A MAG c.*22G>A - IntronicSNV - 11/11
19-35803238-G-C MAG c.*22G>C - IntronicSNV - 11/11
8-116631278-T-C TRPS1 c.966+81A>G - IntronicSNV - 3/6
5-139216744-C-T PSD2 c.1595-9C>T - IntronicSNV - 10/14
20-62227276-C-T GMEB2 c.462-156G>A - IntronicSNV - 5/9
19-19130096-C-G SUGP2 c.1730-58G>C - IntronicSNV - 3/10
17-79495519-C-G FSCN2 c.1-39C>G - 5-UTRSNV 1/5 -
12-20893052-C-A SLCO1C1 c.1549-66C>A - IntronicSNV - 11/14
19-45395909-C-G TOMM40 c.343-185C>G - IntronicSNV - 3/9
4-69343287-A-G TMPRSS11E c.908A>G p.Tyr303Cys Missense 8/10 -
11-116657593-A-AA ZPR1 c.424+94_424+94dup - IntronicInsertion - 3/13
6-134308187-T-G TBPL1 c.*9T>G - 3-UTRSNV 7/7 -
11-116703640-G-C APOC3 c.*40G>C - 3-UTRSNV 4/4 -
6-134308187-T-C TBPL1 c.*9T>C - 3-UTRSNV 7/7 -
4-266400-G-C ZNF732 c.246C>G p.Thr82Thr Synonymous 4/4 -
8-22275367-A-C SLC39A14 c.1332+19A>C - IntronicSNV - 8/8
19-49299827-C-T BCAT2 c.789+8G>A - IntronicSNV - 7/8
13-78178550-G-A SCEL c.1157G>A p.Arg386Lys Missense 19/33 -
1-100185282-G-T FRRS1 c.1007-79C>A - IntronicSNV - 9/16
20-45242269-G-A SLC13A3 c.66C>T p.Leu22Leu Synonymous 3/14 -
11-108384393-G-T EXPH5 c.1841C>A p.Ala614Asp Missense 6/6 -
20-45242269-G-C SLC13A3 c.66C>G p.Leu22Leu Synonymous 3/14 -
15-59499120-C-T MYO1E c.1531-1436G>A - IntronicSNV - 14/27
16-71682830-C-T PHLPP2 c.3935G>A p.Arg1312Gln Missense 19/19 -
2-216809521-G-A MREG c.*65C>T - 3-UTRSNV 5/5 -
2-27824168-G-C ZNF512 c.583-55G>C - IntronicSNV - 6/13
7-100686801-A-G MUC17 c.12104A>G p.His4035Arg Missense 3/13 -
1-63050598-T-G DOCK7 c.1800+1580A>C - IntronicSNV - 15/48
1-237821109-T-A RYR2 c.8130-135T>A - IntronicSNV - 53/104
3-186570746-T-A ADIPOQ c.1-102T>A - IntronicSNV - 1/2
1-25717365-C-G RHCE c.676G>C p.Ala226Pro Missense 5/10 -
19-11170839-T-C SMARCA4 c.4887T>C p.Asp1629Asp Synonymous 34/35 -
1-66085574-T-G LEPR c.2396-37T>G - IntronicSNV - 16/19
1-66085574-T-A LEPR c.2396-37T>A - IntronicSNV - 16/19
8-25744455-C-T EBF2 c.883-58G>A - IntronicSNV - 9/15
19-54783521-C-T LILRB2 c.356-19G>A - IntronicSNV - 4/13
2-84686181-C-T SUCLG1 c.97+116G>A - IntronicSNV - 1/8
7-107836262-T-C NRCAM c.1406A>G p.Asn469Ser Missense 15/33 -
1-154407419-A-T IL6R c.641-47A>T - IntronicSNV - 4/9
3-125836803-G-A ALDH1L1 c.1982+45C>T - IntronicSNV - 17/22
21-32119495-C-G KRTAP21-2 c.26G>C p.Cys9Ser Missense 1/1 -
7-47840310-C-G PKD1L1 c.8130G>C p.Gln2710His Missense 54/57 -
11-117310022-A-G DSCAML1 c.4104T>C - synonymous_variant 23/33 -
6-35378756-C-T PPARD c.1-109C>T - IntronicSNV - 2/7
2-84752630-A-C DNAH6 c.226-59A>C - IntronicSNV - 2/76
2-203922075-A-G NBEAL1 c.414A>G p.Glu138Glu Synonymous 6/55 -
12-56869279-T-A GLS2 c.929+129A>T - IntronicSNV - 9/17
13-50237255-G-A EBPL c.318C>T p.Val106Val Synonymous 3/4 -
3-125836803-G-T ALDH1L1 c.1982+45C>A - IntronicSNV - 17/22
19-11277232-G-A KANK2 c.*2C>T - 3-UTRSNV 11/11 -
19-48892756-A-G KDELR1 c.351+54T>C - IntronicSNV - 3/4
19-11277232-G-T KANK2 c.*2C>A - 3-UTRSNV 11/11 -
16-57017474-G-A CETP c.1408-30G>A - IntronicSNV - 15/15
3-125854409-T-C ALDH1L1 c.1441A>G p.Ser481Gly Missense 12/23 -
19-11106790-T-C SMARCA4 c.1594-99T>C - IntronicSNV - 9/34
15-59377940-C-T RNF111 c.2506C>T p.Pro836Ser Missense 10/14 -
5-32786413-C-T NPR3 c.1585C>T p.Arg529Trp Missense 8/8 -
7-2752152-G-C AMZ1 c.1137G>C p.Ser379Ser Synonymous 7/7 -
9-135864436-C-G GFI1B c.511-12C>G - IntronicSNV - 8/10
1-226568630-C-T PARP1 c.1300+139G>A - IntronicSNV - 9/22
16-71768500-T-A AP1G1 c.2376+12A>T - IntronicSNV - 23/23
9-135864436-C-T GFI1B c.511-12C>T - IntronicSNV - 8/10
9-135864436-C-A GFI1B c.511-12C>A - IntronicSNV - 8/10
11-117374719-G-A DSCAML1 c.2380C>T p.Gln794* Nonsense 12/33 -
1-110029023-C-T ATXN7L2 c.194-105C>T - IntronicSNV - 2/10
22-39708965-C-T RPL3 c.1192G>A p.Ala398Thr Missense 10/10 -
1-55517861-C-G PCSK9 c.524-90C>G - IntronicSNV - 3/11
1-109813485-C-A CELSR2 c.7484-64C>A - IntronicSNV - 24/33
1-62958311-T-C DOCK7 c.5268+64A>G - IntronicSNV - 40/48
8-133981940-G-A TG c.5975+126G>A - IntronicSNV - 32/47
16-71773285-A-AA AP1G1 c.2009-41_2009-41dup - IntronicInsertion - 20/23
4-74847111-A-C PF4 c.218+23T>G - IntronicSNV - 2/2
4-3475390-G-A DOK7 c.331+27G>A - IntronicSNV - 3/6
1-109813485-C-T CELSR2 c.7484-64C>T - IntronicSNV - 24/33
8-30654999-C-A PPP2CB c.486+98G>T - IntronicSNV - 3/6
9-78506187-T-C PCSK5 c.90T>C p.Cys30Cys Synonymous 1/37 -
2-62730126-A-G TMEM17 c.101-197T>C - IntronicSNV - 1/3
11-116628057-G-A BUD13 c.1685-114C>T - IntronicSNV - 8/9
16-57197849-A-G FAM192A c.547+64T>C - IntronicSNV - 6/6
1-154492702-G-A TDRD10 c.142-78G>A - IntronicSNV - 4/12
1-1268195-G-C TAS1R3 c.1275+9G>C - IntronicSNV - 3/5
1-1268195-G-A TAS1R3 c.1275+9G>A - IntronicSNV - 3/5
19-10742443-C-A SLC44A2 c.620+18C>A - IntronicSNV - 8/21
19-10742443-C-T SLC44A2 c.620+18C>T - IntronicSNV - 8/21
19-10742443-C-G SLC44A2 c.620+18C>G - IntronicSNV - 8/21
20-24994201-A-G ACSS1 c.1550T>C p.Phe517Ser Missense 10/14 -
1-35562965-G-A ZMYM1 c.217G>A p.Val73Met Missense 4/10 -
21-45712254-C-T AIRE c.1065C>T p.Pro355Pro Synonymous 9/14 -
2-169801488-A-T ABCB11 c.2344-17T>A - IntronicSNV - 19/27
3-48716443-G-A NCKIPSD c.1700-41C>T - IntronicSNV - 10/12
9-132963350-T-C NCS1 c.89+89T>C - IntronicSNV - 2/7
9-132963350-T-A NCS1 c.89+89T>A - IntronicSNV - 2/7
1-154426970-A-T IL6R c.1073A>T p.Asp358Val Missense 9/10 -
1-154426970-A-C IL6R c.1073A>C p.Asp358Ala Missense 9/10 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
5-32135599-G-A GOLPH3 c.472+79C>T - IntronicSNV - 3/3
5-179555407-T-C RASGEF1C c.639+3A>G - IntronicSNV - 5/13
2-27731212-T-C GCKR c.1422+94T>C - IntronicSNV - 16/18
16-27373612-T-C IL4R c.939T>C p.Phe313Phe Synonymous 11/11 -
13-95860197-C-A ABCC4 c.786-18G>T - IntronicSNV - 6/30
3-33586388-C-T CLASP2 c.2518-55G>A - IntronicSNV - 25/33
3-33586388-C-A CLASP2 c.2518-55G>T - IntronicSNV - 25/33
4-72618334-A-T GC c.1296T>A p.Asp432Glu Missense 11/13 -
2-207169731-G-A ZDBF2 c.479G>A p.Arg160Lys Missense 5/5 -
3-125874388-C-T ALDH1L1 c.529-42G>A - IntronicSNV - 4/22
2-210846867-A-G UNC80 c.8906-36A>G - IntronicSNV - 58/62
6-36978745-G-T FGD2 c.301-4G>T - IntronicSNV - 2/15
5-74882681-C-T POLK c.1227-170C>T - IntronicSNV - 9/14
22-32803953-A-C RTCB c.240+209T>G - IntronicSNV - 3/11
19-10916684-C-G DNM2 c.1545+41C>G - IntronicSNV - 13/19
4-74853287-G-A PPBP c.231C>T p.Ile77Ile Synonymous 2/3 -
14-21467928-T-C SLC39A2 c.143T>C p.Leu48Pro Missense 2/4 -
2-215833458-T-C ABCA12 c.5764A>G p.Arg1922Gly Missense 38/53 -
19-45448465-T-G APOC4 c.287T>G p.Leu96Arg Missense 3/3 -
1-159409851-G-A OR10J1 c.303G>A p.Gln101Gln Synonymous 1/1 -
20-6077624-G-A FERMT1 c.1014C>T p.Ser338Ser Synonymous 8/15 -
16-71983772-G-C PKD1L3 c.3528C>G p.Ser1176Arg Missense 21/31 -
11-61543961-T-C MYRF c.1472+57T>C - IntronicSNV - 10/25
6-36978745-G-A FGD2 c.301-4G>A - IntronicSNV - 2/15