PMID: 31494266

Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, proteomics & bioinformatics
Z Du, L Ma, H Qu, W Chen, B Zhang, X Lu, W Zhai, X Sheng, Y Sun, W Li, M Lei, Q Qi, N Yuan, S Shi, J Zeng, J Wang, Y Yang, Q Liu, Y Hong, L Dong, Z Zhang, D Zou, Y Wang, S Song, F Liu, X Fang, H Chen, X Liu, J Xiao, C Zeng
2019-06

1715 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-75598070-C-A LHX8 c.18+1653C>A - IntronicSNV - 2/9
20-25441433-C-T NINL c.3696+725G>A - IntronicSNV - 21/23
7-101537526-G-A CUX1 c.64-21869G>A - IntronicSNV - 1/22
16-89900502-G-A SPIRE2 c.244+5300G>A - IntronicSNV - 1/14
22-34157526-G-A LARGE1 c.1-63C>T - 5-UTRSNV 2/15 -
8-23077163-C-T TNFRSF10A c.306+5106G>A - IntronicSNV - 1/9
8-23077163-C-G TNFRSF10A c.306+5106G>C - IntronicSNV - 1/9
20-252706-T-C C20orf96 c.1032-798A>G - IntronicSNV - 10/10
20-252706-T-A C20orf96 c.1032-798A>T - IntronicSNV - 10/10
7-2874004-T-G GNA12 c.309+9483A>C - IntronicSNV - 1/3
16-89896220-T-C SPIRE2 c.244+1018T>C - IntronicSNV - 1/14
6-149861892-G-A PPIL4 c.321+186C>T - IntronicSNV - 4/12
6-135351720-G-A HBS1L c.304+8991C>T - IntronicSNV - 3/16
3-62735090-T-G CADPS c.888+4026A>C - IntronicSNV - 3/29
3-62735090-T-A CADPS c.888+4026A>T - IntronicSNV - 3/29
9-116977480-G-A COL27A1 c.2367+4174G>A - IntronicSNV - 12/60
3-15857465-A-G ANKRD28 c.28-20652T>C - IntronicSNV - 1/27
11-46692689-C-T ATG13 c.1366-1116C>T - IntronicSNV - 16/16
5-79476737-T-G SERINC5 c.196-2851A>C - IntronicSNV - 2/12
1-92224067-C-T TGFBR3 c.384+103G>A - IntronicSNV - 4/16
3-188289697-C-T LPP c.430-37252C>T - IntronicSNV - 5/10
5-118436850-A-G DMXL1 c.214-780A>G - IntronicSNV - 2/42
3-196799374-T-C DLG1 c.2105-3243A>G - IntronicSNV - 19/25
9-8729721-A-G PTPRD c.64+4059T>C - IntronicSNV - 1/29
12-124887946-A-G NCOR2 c.1483-839T>C - IntronicSNV - 15/48
17-19153417-T-C EPN2 c.-294+12573T>C - intron_variant - 1/10
5-170149554-T-C KCNIP1 c.403-163T>C - IntronicSNV - 4/7
16-90031427-T-A DEF8 c.1436+444T>A - IntronicSNV - 12/12
10-95202684-G-C MYOF c.236+9123C>G - IntronicSNV - 3/53
14-71054478-T-C MED6 c.583-1978A>G - IntronicSNV - 6/7
6-26184102-G-T HIST1H2BE c.79G>T p.Gly27Cys Missense 1/1 -
6-26184102-G-C HIST1H2BE c.79G>C p.Gly27Arg Missense 1/1 -
11-10668395-T-C MRVI1 c.198+5177A>G - IntronicSNV - 1/19
17-77133677-G-C RBFOX3 c.1-21880C>G - IntronicSNV - 4/14
10-79274250-A-G KCNMA1 c.379-110469T>C - IntronicSNV - 1/26
9-34116083-T-C DCAF12 c.334-8520A>G - IntronicSNV - 2/8
9-8729637-C-T PTPRD c.64+4143G>A - IntronicSNV - 1/29
9-8729637-C-G PTPRD c.64+4143G>C - IntronicSNV - 1/29
3-30686414-A-G TGFBR2 c.338+7A>G - IntronicSNV - 3/7
16-89933420-A-G SPIRE2 c.1779-1177A>G - IntronicSNV - 12/14
22-43338353-C-A PACSIN2 c.-78+4550G>T - intron_variant - 1/10
20-62095558-C-A KCNQ2 c.296+7963G>T - IntronicSNV - 1/7
3-195258801-T-C PPP1R2 c.123-2099A>G - IntronicSNV - 1/5
3-195248787-G-A PPP1R2 c.403+1703C>T - IntronicSNV - 4/5
6-135263557-C-A ALDH8A1 c.432G>T p.Pro144Pro Synonymous 3/6 -
X-74336006-C-A ABCB7 c.169-1337G>T - IntronicSNV - 1/15
22-34135929-T-C LARGE1 c.106+21429A>G - IntronicSNV - 2/14
2-109513601-A-G EDAR c.1109T>C p.Val370Ala Missense 12/12 -
6-135309131-T-C HBS1L c.958-202A>G - IntronicSNV - 7/16
2-216294663-G-A FN1 c.685+775C>T - IntronicSNV - 5/43
1-169162578-C-A NME7 c.991-23786G>T - IntronicSNV - 10/11
1-169162578-C-G NME7 c.991-23786G>C - IntronicSNV - 10/11
6-80376629-C-T SH3BGRL2 c.46-6702C>T - IntronicSNV - 1/3
3-169276394-G-A MECOM c.37+104730C>T - IntronicSNV - 1/16
1-169137453-C-A NME7 c.1098+1232G>T - IntronicSNV - 11/11
4-185121733-T-C ENPP6 c.241+16999A>G - IntronicSNV - 1/7
22-20809718-G-A KLHL22 c.1305+2377C>T - IntronicSNV - 5/6
3-15797454-A-G ANKRD28 c.191-4127T>C - IntronicSNV - 3/27
3-195981859-A-C PCYT1A c.217+2800T>G - IntronicSNV - 4/9
22-43321806-T-A PACSIN2 c.1-13720A>T - IntronicSNV - 1/10
10-14108324-G-A FRMD4A c.46-207412C>T - IntronicSNV - 2/24
6-135257543-G-C ALDH8A1 c.443-3373C>G - IntronicSNV - 3/5
7-28120261-A-G JAZF1 c.116-88661T>C - IntronicSNV - 1/4
10-82108610-T-G DYDC1 c.249+3047A>C - IntronicSNV - 4/7
16-89956253-T-C TCF25 c.614+2128T>C - IntronicSNV - 5/17
7-28189549-T-A JAZF1 c.115+30533A>T - IntronicSNV - 1/4
11-61579427-C-T FADS1 c.684+516G>A - IntronicSNV - 3/11
13-26534077-C-T ATP8A2 c.3184-1636C>T - IntronicSNV - 33/36
11-100901599-G-A PGR c.*8248C>T - 3-UTRSNV 8/8 -
6-32184375-A-G NOTCH4 c.1861+347T>C - IntronicSNV - 11/29
16-89960618-C-T TCF25 c.828+352C>T - IntronicSNV - 7/17
1-198214016-A-G NEK7 c.58-8154A>G - IntronicSNV - 2/9
4-143461463-G-A INPP4B c.-289-72255C>T - intron_variant - 2/26
1-234290652-C-T SLC35F3 c.284-76511C>T - IntronicSNV - 2/7
6-20206244-C-A MBOAT1 c.99+6123G>T - IntronicSNV - 1/12
11-63173684-T-G SLC22A9 c.1074-285T>G - IntronicSNV - 6/9
3-108167500-G-A MYH15 c.2460-3758C>T - IntronicSNV - 22/41
16-31141993-C-T KAT8 c.1157+66C>T - IntronicSNV - 9/10
9-8728174-G-C PTPRD c.64+5606C>G - IntronicSNV - 1/29
9-8728174-G-A PTPRD c.64+5606C>T - IntronicSNV - 1/29
2-172397202-G-A CYBRD1 c.194-893G>A - IntronicSNV - 1/3
10-45938247-T-A ALOX5 c.1273-239T>A - IntronicSNV - 9/13
10-45938247-T-G ALOX5 c.1273-239T>G - IntronicSNV - 9/13
20-62329412-G-C TNFRSF6B c.620-221G>C - IntronicSNV - 2/2
20-62329412-G-A TNFRSF6B c.620-221G>A - IntronicSNV - 2/2
16-1757618-A-G MAPK8IP3 c.318+960A>G - IntronicSNV - 1/30
9-5231712-T-A INSL4 c.189T>A p.Arg63Arg Synonymous 1/2 -
10-15155926-C-A NMT2 c.1171-964G>T - IntronicSNV - 9/11
20-62333115-G-A ARFRP1 c.417+67C>T - IntronicSNV - 6/6
1-205888143-G-C SLC26A9 c.2111-30C>G - IntronicSNV - 18/20
4-72385194-A-G SLC4A4 c.2035-12585A>G - IntronicSNV - 13/22
6-170654263-C-T FAM120B c.2018-2976C>T - IntronicSNV - 4/10
11-61623140-C-T FADS2 c.745-1343C>T - IntronicSNV - 5/11
15-59755449-C-T FAM81A c.294+3044C>T - IntronicSNV - 3/8
7-104409059-G-C LHFPL3 c.682+31701G>C - IntronicSNV - 2/2
11-61620274-T-C FADS2 c.745-4209T>C - IntronicSNV - 5/11
22-30037900-C-G NF2 c.364-291C>G - IntronicSNV - 3/15
11-61623140-C-A FADS2 c.745-1343C>A - IntronicSNV - 5/11
21-32930394-G-A TIAM1 c.-422+846C>T - intron_variant - 1/28
2-170204800-G-A LRP2 c.79+14031C>T - IntronicSNV - 1/78
22-43684532-G-A SCUBE1 c.484+2520C>T - IntronicSNV - 4/21
2-170204800-G-T LRP2 c.79+14031C>A - IntronicSNV - 1/78
3-30688511-G-A TGFBR2 c.338+2104G>A - IntronicSNV - 3/7
16-89718223-G-A CHMP1A c.28-169C>T - IntronicSNV - 2/6
2-133297890-C-T GPR39 c.857-104784C>T - IntronicSNV - 1/1
3-32345039-C-T CMTM8 c.148-53826C>T - IntronicSNV - 1/3
11-126228403-G-C ST3GAL4 c.-61+2206G>C - intron_variant - 1/10
8-82570631-C-T IMPA1 c.*955G>A - 3-UTRSNV 9/9 -
3-132235044-A-G DNAJC13 c.5486-222A>G - IntronicSNV - 46/55
20-62076351-G-T KCNQ2 c.515-164C>A - IntronicSNV - 3/7
14-105994283-G-A TMEM121 c.1-889G>A - IntronicSNV - 1/1
22-39747671-T-A SYNGR1 c.99+1557T>A - IntronicSNV - 1/3
7-76842468-C-T CCDC146 c.157-23796C>T - IntronicSNV - 2/18
10-72253926-G-A PALD1 c.-30+15111G>A - intron_variant - 1/19
9-132844488-G-T GPR107 c.527-1356G>T - IntronicSNV - 5/19
16-89940608-A-C TCF25 c.192+341A>C - IntronicSNV - 1/17
1-204263809-G-A PLEKHA6 c.-94-19872C>T - intron_variant - 1/22
2-43015119-C-T HAAO c.159+550G>A - IntronicSNV - 2/9
10-49673134-C-T ARHGAP22 c.452-5200G>A - IntronicSNV - 4/9
9-37452108-C-T ZBTB5 c.1-9560G>A - IntronicSNV - 1/1
11-120165302-A-G POU2F3 c.139-3672A>G - IntronicSNV - 3/12
11-120165302-A-T POU2F3 c.139-3672A>T - IntronicSNV - 3/12
8-23074242-A-G TNFRSF10A c.307-4517T>C - IntronicSNV - 1/9
22-29902129-A-G THOC5 c.*2317T>C - IntergenicSNV 20/20 -
11-131891216-T-A NTM c.167+109674T>A - IntronicSNV - 1/6
16-89985940-G-C MC1R c.274G>C p.Val92Leu Missense 1/1 -
1-234604785-G-A TARBP1 c.1100-1389C>T - IntronicSNV - 3/29
1-8473813-C-T RERE c.1284+8974G>A - IntronicSNV - 12/22
11-126229617-C-T ST3GAL4 c.-61+3420C>T - intron_variant - 1/10
9-19740983-C-G SLC24A2 c.930+44952G>C - IntronicSNV - 1/9
6-29910587-G-A HLA-A c.127G>A p.Glu43Lys Missense 2/8 -
20-62076351-G-A KCNQ2 c.515-164C>T - IntronicSNV - 3/7
14-105994283-G-T TMEM121 c.1-889G>T - IntronicSNV - 1/1
5-179047143-G-A HNRNPH1 c.398-735C>T - IntronicSNV - 4/13
6-170678670-T-A FAM120B c.2283+11264T>A - IntronicSNV - 6/10
1-114151847-C-A MAGI3 c.1019-5376C>A - IntronicSNV - 6/20
6-135249046-G-T ALDH8A1 c.861+1146C>A - IntronicSNV - 5/5
2-204193688-T-G ABI2 c.117+334T>G - IntronicSNV - 1/9
9-4847570-T-C RCL1 c.868-1877T>C - IntronicSNV - 7/8
9-4847570-T-A RCL1 c.868-1877T>A - IntronicSNV - 7/8
4-143475473-C-T INPP4B c.-289-86265G>A - intron_variant - 2/26
20-30791178-C-T PLAGL2 c.1-1197G>A - IntronicSNV - 1/2
10-77160682-C-T ZNF503 c.315+181G>A - IntronicSNV - 1/1
6-135529211-T-C MYB c.1797+4749T>C - IntronicSNV - 14/14
6-31604011-G-A PRRC2A c.5650G>A p.Gly1884Ser Missense 26/31 -
11-61580635-C-T FADS1 c.486+80G>A - IntronicSNV - 2/11
16-89964309-A-G TCF25 c.1023-656A>G - IntronicSNV - 9/17
16-89991895-C-T TUBB3 c.57+2029C>T - IntronicSNV - 1/3
1-155868625-G-A RIT1 c.*1554C>T - 3-UTRSNV 6/6 -
9-140329141-C-T ENTPD8 c.*225G>A - 3-UTRSNV 9/9 -
22-30088442-T-C NF2 c.1738-2299T>C - IntronicSNV - 15/15
1-234353505-A-T SLC35F3 c.284-13658A>T - IntronicSNV - 2/7
1-234353505-A-G SLC35F3 c.284-13658A>G - IntronicSNV - 2/7
1-232603041-T-C SIPA1L2 c.2244-1879A>G - IntronicSNV - 6/20
1-153888820-C-T GATAD2B c.-2+6389G>A - intron_variant - 1/10
1-153888820-C-A GATAD2B c.-2+6389G>T - intron_variant - 1/10
8-39847648-G-A IDO2 c.706+291G>A - IntronicSNV - 8/10
10-12821821-A-G CAMK1D c.565+10023A>G - IntronicSNV - 5/9
11-61604967-C-T FADS2 c.208-283C>T - IntronicSNV - 1/11
4-47503661-T-C ATP10D c.1-10897T>C - IntronicSNV - 1/22
1-16758249-C-T SPATA21 c.1-383G>A - IntronicSNV - 1/12
11-61546592-A-G MYRF c.1987-143A>G - IntronicSNV - 14/25
19-54779389-C-G LILRB2 c.1647+416G>C - IntronicSNV - 13/13
15-65743050-A-G DPP8 c.2226+287T>C - IntronicSNV - 17/17
3-132055798-C-G ACPP c.457-502C>G - IntronicSNV - 4/9
20-30953162-T-C ASXL1 c.58-1025T>C - IntronicSNV - 1/12
19-54779389-C-T LILRB2 c.1647+416G>A - IntronicSNV - 13/13
11-61610750-G-T FADS2 c.618+2553G>T - IntronicSNV - 4/11
16-89952846-T-A TCF25 c.548+472T>A - IntronicSNV - 4/17
1-44756747-T-C ERI3 c.759-6168A>G - IntronicSNV - 6/8
6-5722910-C-G FARS2 c.1218-48614C>G - IntronicSNV - 6/6
11-61618012-C-T FADS2 c.744+2256C>T - IntronicSNV - 5/11
8-124531898-A-G FBXO32 c.372+12240T>C - IntronicSNV - 4/6
11-61600342-A-C FADS2 c.207+4273A>C - IntronicSNV - 1/11
1-159171603-C-T CADM3 c.*891C>T - 3-UTRSNV 10/10 -
7-92273578-C-T CDK6 c.648-21178G>A - IntronicSNV - 5/7
5-153151522-G-C GRIA1 c.2270+1547G>C - IntronicSNV - 13/15
11-61552680-G-T MYRF c.3181-592G>T - IntronicSNV - 24/25
4-170944698-C-T MFAP3L c.-134+2687G>A - intron_variant - 1/2
11-120164246-A-T POU2F3 c.139-4728A>T - IntronicSNV - 3/12
1-112413022-T-C KCND3 c.1107-83294A>G - IntronicSNV - 2/6
3-182760073-T-G MCCC1 c.1084-535A>C - IntronicSNV - 10/18
1-155247707-G-T HCN3 c.278+48G>T - IntronicSNV - 1/7
4-143481329-C-T INPP4B c.-289-92121G>A - intron_variant - 2/26
1-23206684-A-G EPHB2 c.1304-2168A>G - IntronicSNV - 5/15
10-88849769-C-T GLUD1 c.445+4313G>A - IntronicSNV - 1/12
2-216268902-C-T FN1 c.3253+210G>A - IntronicSNV - 20/43
2-63365468-T-C WDPCP c.2190+14581A>G - IntronicSNV - 17/17
12-66548252-C-T TMBIM4 c.98-1024G>A - IntronicSNV - 1/6
4-2746481-C-T TNIP2 c.849G>A p.Ala283Ala Synonymous 4/6 -
4-2746481-C-A TNIP2 c.849G>T p.Ala283Ala Synonymous 4/6 -
1-15379018-A-G KAZN c.445-3569A>G - IntronicSNV - 4/7
10-97391983-T-G ALDH18A1 c.808+733A>C - IntronicSNV - 7/17
6-135368331-G-A HBS1L c.109+3389C>T - IntronicSNV - 2/16
16-31048079-C-T STX4 c.379-1168C>T - IntronicSNV - 5/10
14-24047669-A-C JPH4 c.-578T>G - 5_prime_UTR_variant 1/7 -
1-236584485-G-A EDARADD c.161-6207G>A - IntronicSNV - 3/5
1-8527520-C-T RERE c.1105-1437G>A - IntronicSNV - 10/22
10-79272851-C-T KCNMA1 c.379-109070G>A - IntronicSNV - 1/26
2-242113166-C-T PPP1R7 c.906+3884C>T - IntronicSNV - 9/9
2-43018458-C-T HAAO c.80+1139G>A - IntronicSNV - 1/9
2-43018458-C-G HAAO c.80+1139G>C - IntronicSNV - 1/9
2-43018458-C-A HAAO c.80+1139G>T - IntronicSNV - 1/9
5-118858701-A-G HSD17B4 c.1504-2210A>G - IntronicSNV - 17/23
11-61524119-G-A MYRF c.19+1205G>A - IntronicSNV - 1/25
6-31496778-C-G MCCD1 c.1-14C>G - 5-UTRSNV 1/2 -
4-25026195-G-A LGI2 c.413+247C>T - IntronicSNV - 4/7
1-20677197-G-A VWA5B1 c.2954-153G>A - IntronicSNV - 19/21
7-20405265-G-A ITGB8 c.214-1370G>A - IntronicSNV - 2/13
1-20677197-G-C VWA5B1 c.2954-153G>C - IntronicSNV - 19/21
16-89721655-C-T CHMP1A c.8-1324G>A - IntronicSNV - 1/6
16-89953066-G-A TCF25 c.548+692G>A - IntronicSNV - 4/17
13-99403611-G-A SLC15A1 c.4+1238C>T - IntronicSNV - 1/22
3-108167506-A-G MYH15 c.2460-3764T>C - IntronicSNV - 22/41
1-79093818-A-G IFI44L c.218A>G p.His73Arg Missense 2/9 -
16-89972345-T-C TCF25 c.1629-257T>C - IntronicSNV - 14/17
4-72363545-A-G SLC4A4 c.2034+136A>G - IntronicSNV - 13/22
4-57109453-A-G KIAA1211 c.-188-29034A>G - intron_variant - 2/10
15-23062855-G-A NIPA1 c.179-536C>T - IntronicSNV - 1/4
7-105613007-C-T CDHR3 c.47-2283C>T - IntronicSNV - 1/18
20-62098483-C-G KCNQ2 c.296+5038G>C - IntronicSNV - 1/7
8-144895553-G-A SCRIB c.504-9C>T - IntronicSNV - 5/35
4-142005573-C-A RNF150 c.484+47906G>T - IntronicSNV - 1/6
4-101986763-C-G PPP3CA c.956-2249G>C - IntronicSNV - 8/13
16-31121793-G-A BCKDK c.615G>A p.Thr205Thr Synonymous 7/12 -
13-41146301-T-C FOXO1 c.631-11304A>G - IntronicSNV - 1/2
6-135314070-G-A HBS1L c.957+826C>T - IntronicSNV - 7/16
16-89949000-G-C TCF25 c.193-759G>C - IntronicSNV - 1/17
6-135529211-T-A MYB c.1797+4749T>A - IntronicSNV - 14/14
11-61524974-G-T MYRF c.19+2060G>T - IntronicSNV - 1/25
1-151497376-G-A CGN c.1614+14G>A - IntronicSNV - 8/20
10-108863370-A-T SORCS1 c.558+60357T>A - IntronicSNV - 1/25
9-95491899-G-A BICD2 c.241-381C>T - IntronicSNV - 1/7
11-44917149-G-A TSPAN18 c.1-10819G>A - IntronicSNV - 1/9
20-62856778-C-G MYT1 c.2529-1990C>G - IntronicSNV - 16/22
20-62856778-C-A MYT1 c.2529-1990C>A - IntronicSNV - 16/22
21-44158451-G-T PDE9A c.388+4915G>T - IntronicSNV - 6/18
7-27976563-G-A JAZF1 c.189-41528C>T - IntronicSNV - 2/4
17-78003929-G-A TBC1D16 c.-63+5665C>T - intron_variant - 1/11
2-216204210-C-A ATIC c.1227+580C>A - IntronicSNV - 12/15
6-24353515-C-A DCDC2 c.348+282G>T - IntronicSNV - 2/9
6-24353515-C-T DCDC2 c.348+282G>A - IntronicSNV - 2/9
1-169116017-T-C NME7 c.1099-13962A>G - IntronicSNV - 11/11
16-89987201-A-G MC1R c.*581A>G - 3-UTRSNV 1/1 -
22-43697531-C-A SCUBE1 c.350-10345G>T - IntronicSNV - 3/21
11-61524974-G-A MYRF c.19+2060G>A - IntronicSNV - 1/25
8-122634104-C-A HAS2 c.628-4658G>T - IntronicSNV - 2/3
8-122634104-C-T HAS2 c.628-4658G>A - IntronicSNV - 2/3
X-39938225-G-C BCOR c.1-1043C>G - IntronicSNV - 1/14
5-115494343-A-G COMMD10 c.510+24468A>G - IntronicSNV - 5/6
11-47093465-C-T C11orf49 c.280+19396C>T - IntronicSNV - 3/8
11-47093465-C-G C11orf49 c.280+19396C>G - IntronicSNV - 3/8
10-13711380-T-C FRMD4A c.1374+1026A>G - IntronicSNV - 17/24
11-47093465-C-A C11orf49 c.280+19396C>A - IntronicSNV - 3/8
2-216276856-A-T FN1 c.1942-2019T>A - IntronicSNV - 13/43
12-32478375-A-G BICD1 c.1006-2020A>G - IntronicSNV - 4/9
11-47093084-T-C C11orf49 c.280+19015T>C - IntronicSNV - 3/8
20-62328742-C-T TNFRSF6B c.486C>T p.Ser162Ser Synonymous 2/3 -
3-196482921-G-A PAK2 c.-22+15893G>A - intron_variant - 1/14
9-116741439-A-T ZNF618 c.78-9162A>T - IntronicSNV - 2/13
3-41490207-G-A ULK4 c.3492+6781C>T - IntronicSNV - 34/36
3-122056863-T-C CSTA c.168+368T>C - IntronicSNV - 2/2
4-38906717-A-G FAM114A1 c.437-426A>G - IntronicSNV - 4/14
4-100056998-A-G ADH4 c.582+619T>C - IntronicSNV - 5/8
18-43422036-G-A SIGLEC15 c.906-35G>A - IntronicSNV - 5/5
20-20229681-A-G CFAP61 c.2160-2558A>G - IntronicSNV - 19/26
1-206899052-A-G MAPKAPK2 c.280-3003A>G - IntronicSNV - 1/9
1-169490772-G-A F5 c.6049-870C>T - IntronicSNV - 21/24
11-45917703-C-T MAPK8IP1 c.102-1933C>T - IntronicSNV - 1/11
2-56111309-C-T EFEMP1 c.518-2440G>A - IntronicSNV - 5/11
16-89959805-G-C TCF25 c.698-331G>C - IntronicSNV - 6/17
7-6169741-G-C USP42 c.443-5731G>C - IntronicSNV - 3/17
9-26975149-G-T IFT74 c.121-2977G>T - IntronicSNV - 2/19
2-23732893-C-T KLHL29 c.-46+34356C>T - intron_variant - 2/13
16-89972532-A-C TCF25 c.1629-70A>C - IntronicSNV - 14/17
16-89972532-A-T TCF25 c.1629-70A>T - IntronicSNV - 14/17
6-135255901-A-G ALDH8A1 c.443-1731T>C - IntronicSNV - 3/5
6-152533460-T-C SYNE1 c.22495-737A>G - IntronicSNV - 123/145
6-135295001-G-A HBS1L c.1672-4525C>T - IntronicSNV - 14/16
7-137338204-C-T DGKI c.738+1274G>A - IntronicSNV - 5/33
16-89731073-A-C SPATA33 c.209-4621A>C - IntronicSNV - 2/2
10-72451777-A-G ADAMTS14 c.523-10291A>G - IntronicSNV - 2/21
12-72868799-G-A TRHDE c.1449+1839G>A - IntronicSNV - 5/18
9-26975149-G-A IFT74 c.121-2977G>A - IntronicSNV - 2/19
9-26975149-G-C IFT74 c.121-2977G>C - IntronicSNV - 2/19
5-145838075-A-G TCERG1 c.439-372A>G - IntronicSNV - 3/20
16-89896331-C-A SPIRE2 c.244+1129C>A - IntronicSNV - 1/14
16-89969254-C-T TCF25 c.1382-1272C>T - IntronicSNV - 12/17
13-30106466-T-G SLC7A1 c.529+495A>C - IntronicSNV - 4/12
16-89959805-G-A TCF25 c.698-331G>A - IntronicSNV - 6/17
16-89956247-C-A TCF25 c.614+2122C>A - IntronicSNV - 5/17
16-89956247-C-T TCF25 c.614+2122C>T - IntronicSNV - 5/17
16-31334236-C-A ITGAM c.2002+1288C>A - IntronicSNV - 16/29
2-37152138-G-C STRN c.338+110C>G - IntronicSNV - 2/17
9-36386083-G-C RNF38 c.162+4381C>G - IntronicSNV - 2/11
5-58333771-T-G PDE4D c.921+915A>C - IntronicSNV - 6/14
11-46923168-C-A LRP4 c.199+1166G>T - IntronicSNV - 2/37
16-73045615-A-C ZFHX3 c.-50+36036T>G - intron_variant - 1/9
3-182762437-G-A MCCC1 c.1083+764C>T - IntronicSNV - 10/18
6-135307485-T-G HBS1L c.1180-164A>C - IntronicSNV - 9/16
15-72283291-C-A MYO9A c.1722+153G>T - IntronicSNV - 11/41
6-169968993-G-A WDR27 c.2645+3522C>T - IntronicSNV - 25/25
12-111887659-A-G SH2B3 c.*1553A>G - 3-UTRSNV 8/8 -
12-42597168-T-C YAF2 c.26+34789A>G - IntronicSNV - 1/2
1-169100095-C-A ATP1B1 c.649-435C>A - IntronicSNV - 5/5
7-40466200-C-T SUGCT c.727-22686C>T - IntronicSNV - 9/14
1-169100095-C-T ATP1B1 c.649-435C>T - IntronicSNV - 5/5
16-89764982-G-C SPATA2L c.304-269C>G - IntronicSNV - 2/2
16-89764982-G-A SPATA2L c.304-269C>T - IntronicSNV - 2/2
12-932357-C-T WNK1 c.933-3851C>T - IntronicSNV - 2/27
1-234382599-T-C SLC35F3 c.608+15112T>C - IntronicSNV - 3/7
10-55694073-C-T PCDH15 c.3373+4502G>A - IntronicSNV - 25/32
14-34187477-A-T NPAS3 c.734-16943A>T - IntronicSNV - 6/11
14-34187477-A-G NPAS3 c.734-16943A>G - IntronicSNV - 6/11
1-230311849-G-A GALNT2 c.127-2115G>A - IntronicSNV - 1/15
4-72223753-C-T SLC4A4 c.598+849C>T - IntronicSNV - 3/22
1-94516474-C-T ABCA4 c.2653+715G>A - IntronicSNV - 17/49
9-125897900-T-C STRBP c.1731+420A>G - IntronicSNV - 16/18
5-7560568-A-C ADCY2 c.570+39556A>C - IntronicSNV - 3/24
10-49705989-G-A ARHGAP22 c.323-18182C>T - IntronicSNV - 3/9
4-47619803-G-A CORIN c.2228+5785C>T - IntronicSNV - 17/19
11-120169962-T-C POU2F3 c.265-371T>C - IntronicSNV - 4/12
3-36965123-A-C TRANK1 c.24-20357T>G - IntronicSNV - 1/22
3-36965123-A-G TRANK1 c.24-20357T>C - IntronicSNV - 1/22
16-89933306-C-T SPIRE2 c.1779-1291C>T - IntronicSNV - 12/14
7-40000089-C-T CDK13 c.1211+8638C>T - IntronicSNV - 1/13
10-17421418-G-C ST8SIA6 c.290+11112C>G - IntronicSNV - 3/7
16-89907493-G-T SPIRE2 c.245-4237G>T - IntronicSNV - 1/14
12-131586886-G-A ADGRD1 c.1672-2490G>A - IntronicSNV - 15/24
10-50949335-C-T OGDHL c.2013-452G>A - IntronicSNV - 15/22
6-135286230-T-C HBS1L c.*187A>G - 3-UTRSNV 17/17 -
6-135286230-T-G HBS1L c.*187A>C - 3-UTRSNV 17/17 -
16-89930414-G-A SPIRE2 c.1778+145G>A - IntronicSNV - 12/14
10-50949335-C-G OGDHL c.2013-452G>C - IntronicSNV - 15/22
5-169278628-T-G DOCK2 c.2799+10772T>G - IntronicSNV - 27/51
1-66092570-A-G LEPR c.2673+3906A>G - IntronicSNV - 19/19
1-66092570-A-T LEPR c.2673+3906A>T - IntronicSNV - 19/19
8-39850652-C-G IDO2 c.706+3295C>G - IntronicSNV - 8/10
16-89946682-A-G TCF25 c.193-3077A>G - IntronicSNV - 1/17
11-61601908-A-G FADS2 c.208-3342A>G - IntronicSNV - 1/11
2-204585956-T-A CD28 c.53-5400T>A - IntronicSNV - 1/3
6-123849701-C-A TRDN c.484+1950G>T - IntronicSNV - 5/20
7-20407022-A-T ITGB8 c.388+213A>T - IntronicSNV - 3/13
9-14241650-A-C NFIB c.563-61871T>G - IntronicSNV - 2/8
20-31009293-A-G ASXL1 c.253-6638A>G - IntronicSNV - 4/12
10-17423407-T-C ST8SIA6 c.290+9123A>G - IntronicSNV - 3/7
16-89961593-A-G TCF25 c.928+48A>G - IntronicSNV - 8/17
16-89961593-A-C TCF25 c.928+48A>C - IntronicSNV - 8/17
10-98026522-C-T BLNK c.47+4587G>A - IntronicSNV - 1/16
1-204800005-A-G NFASC c.-200+2095A>G - intron_variant - 1/29
1-204800005-A-T NFASC c.-200+2095A>T - intron_variant - 1/29
11-61581764-T-C FADS1 c.376-939A>G - IntronicSNV - 1/11
22-34291465-G-T LARGE1 c.-83+24518C>A - intron_variant - 1/14
10-1405164-G-A ADARB2 c.1077+59C>T - IntronicSNV - 3/9
11-61606642-A-G FADS2 c.319-1164A>G - IntronicSNV - 2/11
11-61606642-A-C FADS2 c.319-1164A>C - IntronicSNV - 2/11
22-39266451-C-A CBX6 c.246+1034G>T - IntronicSNV - 4/4
16-31140799-G-T KAT8 c.772-539G>T - IntronicSNV - 6/10
2-71693215-T-G DYSF c.88+11999T>G - IntronicSNV - 1/54
3-196445776-C-T PIGX c.176+1984C>T - IntronicSNV - 2/5
6-135373534-G-A HBS1L c.44-1749C>T - IntronicSNV - 1/16
4-72359949-C-G SLC4A4 c.1843-3269C>G - IntronicSNV - 12/22
4-72359949-C-T SLC4A4 c.1843-3269C>T - IntronicSNV - 12/22
9-4848297-A-G RCL1 c.868-1150A>G - IntronicSNV - 7/8
19-5742326-T-G CATSPERD c.574-2112T>G - IntronicSNV - 7/21
19-5742326-T-C CATSPERD c.574-2112T>C - IntronicSNV - 7/21
3-132357667-C-G ACAD11 c.702+669G>C - IntronicSNV - 5/19
3-193086120-G-A ATP13A5 c.64-4051C>T - IntronicSNV - 1/29
20-30948975-C-G ASXL1 c.57+2340C>G - IntronicSNV - 1/12
20-30948975-C-T ASXL1 c.57+2340C>T - IntronicSNV - 1/12
2-23726719-A-C KLHL29 c.-46+28182A>C - intron_variant - 2/13
1-8759554-T-C RERE c.1-43198A>G - IntronicSNV - 1/22
20-40829099-G-A PTPRT c.2343-1071C>T - IntronicSNV - 15/30
7-6203848-G-C CYTH3 c.*727C>G - 3-UTRSNV 13/13 -
7-28183702-T-C JAZF1 c.115+36380A>G - IntronicSNV - 1/4
4-68777054-C-T TMPRSS11A c.*6G>A - 3-UTRSNV 10/10 -
9-26975132-G-A IFT74 c.121-2994G>A - IntronicSNV - 2/19
1-205538918-C-A MFSD4A c.230+491C>A - IntronicSNV - 1/9
2-175062847-C-T OLA1 c.373+24914G>A - IntronicSNV - 4/10
11-61623793-G-A FADS2 c.745-690G>A - IntronicSNV - 5/11
19-54784504-C-A LILRB2 c.1-153G>T - IntronicSNV 1/14 -
1-160145586-G-T ATP1A4 c.2312-296G>T - IntronicSNV - 15/21
17-72271247-G-A DNAI2 c.-12+763G>A - intron_variant - 1/13
1-114447034-G-C AP4B1 c.113+193C>G - IntronicSNV - 2/10
1-245692111-G-A KIF26B c.1167-11958G>A - IntronicSNV - 4/14
2-56096892-A-G EFEMP1 c.1320+963T>C - IntronicSNV - 11/11
10-50949416-T-A OGDHL c.2013-533A>T - IntronicSNV - 15/22
16-89941153-T-C TCF25 c.192+886T>C - IntronicSNV - 1/17
2-1719439-G-A PXDN c.201-22533C>T - IntronicSNV - 1/22
11-61610750-G-A FADS2 c.618+2553G>A - IntronicSNV - 4/11
11-61579463-A-G FADS1 c.684+480T>C - IntronicSNV - 3/11
11-61596633-C-T FADS2 c.207+564C>T - IntronicSNV - 1/11
1-232056301-A-G DISC1 c.1982-38273A>G - IntronicSNV - 9/12
12-112288602-C-G MAPKAPK5 c.36+8029C>G - IntronicSNV - 1/13
11-44880701-C-T TSPAN18 c.1-47267C>T - IntronicSNV - 2/9
21-45711592-C-A AIRE c.995+499C>A - IntronicSNV - 8/13
16-89963289-C-A TCF25 c.1022+798C>A - IntronicSNV - 9/17
2-170201858-C-T LRP2 c.79+16973G>A - IntronicSNV - 1/78
16-89993206-A-C TUBB3 c.57+3340A>C - IntronicSNV - 1/3
11-62156608-C-T ASRGL1 c.495C>T p.Asn165Asn Synonymous 5/7 -
6-32188853-C-T NOTCH4 c.701G>A p.Arg234Gln Missense 4/30 -
16-89995088-G-A TUBB3 c.58-3891G>A - IntronicSNV - 1/3
9-116918394-A-G COL27A1 c.62+102A>G - IntronicSNV - 1/60
6-5722910-C-T FARS2 c.1218-48614C>T - IntronicSNV - 6/6
7-2862475-A-G GNA12 c.309+21012T>C - IntronicSNV - 1/3
4-175187746-C-T FBXO8 c.1-3503G>A - IntronicSNV - 1/5
11-20648020-G-A SLC6A5 c.1261-234G>A - IntronicSNV - 7/15
16-89969567-A-T TCF25 c.1382-959A>T - IntronicSNV - 12/17
2-56108333-C-T EFEMP1 c.640+414G>A - IntronicSNV - 6/11
2-108916044-A-G SULT1C2 c.372+927A>G - IntronicSNV - 4/8
11-61564299-G-T FEN1 c.*323G>T - 3-UTRSNV 2/2 -
2-204198303-T-G ABI2 c.117+4949T>G - IntronicSNV - 1/9
22-43321816-G-A PACSIN2 c.1-13730C>T - IntronicSNV - 1/10
11-61564299-G-C FEN1 c.*323G>C - 3-UTRSNV 2/2 -
16-89967217-T-C TCF25 c.1381+15T>C - IntronicSNV - 12/17
19-34685617-C-G LSM14A c.285+71C>G - IntronicSNV - 2/9
19-34685617-C-T LSM14A c.285+71C>T - IntronicSNV - 2/9
15-51055322-T-C SPPL2A c.66+2343A>G - IntronicSNV - 1/14
2-212708046-A-G ERBB4 c.422-55162T>C - IntronicSNV - 3/26
20-30876186-G-A KIF3B c.-66+10618G>A - intron_variant - 1/8
10-68224886-A-G CTNNA3 c.1531+55489T>C - IntronicSNV - 11/17
4-185577706-G-A PRIMPOL c.1-589G>A - IntronicSNV - 1/13
1-169331157-A-G NME7 c.3+5789T>C - IntronicSNV - 1/11
19-54784520-C-T LILRB2 c.1-169G>A - IntronicSNV 1/14 -
9-4844214-T-C RCL1 c.711-311T>C - IntronicSNV - 6/8
2-71442773-G-A PAIP2B c.-12+11285C>T - intron_variant - 1/3
2-71442773-G-C PAIP2B c.-12+11285C>G - intron_variant - 1/3
4-37948648-C-T TBC1D1 c.417+44515C>T - IntronicSNV - 2/19
7-28189549-T-G JAZF1 c.115+30533A>C - IntronicSNV - 1/4
16-89681640-G-A DPEP1 c.-107+1828G>A - intron_variant - 1/10
8-19519764-T-C CSGALNACT1 c.-544+20220A>G - intron_variant - 1/9
11-61605215-A-G FADS2 c.208-35A>G - IntronicSNV - 1/11
18-33955666-A-C FHOD3 c.337+2959A>C - IntronicSNV - 3/24
3-195078662-A-C ACAP2 c.286-12616T>G - IntronicSNV - 4/22
8-124531898-A-T FBXO32 c.372+12240T>A - IntronicSNV - 4/6
13-66900644-G-A PCDH9 c.3341-21484C>T - IntronicSNV - 4/4
13-66900644-G-C PCDH9 c.3341-21484C>G - IntronicSNV - 4/4
19-34678130-A-G LSM14A c.122-7253A>G - IntronicSNV - 1/9
15-50800095-G-A USP8 c.*8810G>A - IntergenicSNV 20/20 -
3-188479752-A-G LPP c.1410+1682A>G - IntronicSNV - 8/10
1-206890435-G-A MAPKAPK2 c.280-11620G>A - IntronicSNV - 1/9
7-76842468-C-A CCDC146 c.157-23796C>A - IntronicSNV - 2/18
5-118566878-G-A DMXL1 c.8276-2157G>A - IntronicSNV - 37/42
7-96330682-C-T SEM1 c.77-6479G>A - IntronicSNV - 1/2
8-106389304-T-C ZFPM2 c.41-42068T>C - IntronicSNV - 1/7
2-29129682-T-G WDR43 c.485+235T>G - IntronicSNV - 3/17
4-159857539-A-G C4orf45 c.357-21028T>C - IntronicSNV - 3/4
16-31088347-G-A ZNF646 c.702G>A p.Glu234Glu Synonymous 2/3 -
1-66089782-C-T LEPR c.2673+1118C>T - IntronicSNV - 19/19
4-57093789-C-T KIAA1211 c.-188-44698C>T - intron_variant - 2/10
9-116741439-A-C ZNF618 c.78-9162A>C - IntronicSNV - 2/13
16-89896932-T-C SPIRE2 c.244+1730T>C - IntronicSNV - 1/14
4-72362179-G-A SLC4A4 c.1843-1039G>A - IntronicSNV - 12/22
16-89991963-C-T TUBB3 c.57+2097C>T - IntronicSNV - 1/3
11-61601378-C-T FADS2 c.208-3872C>T - IntronicSNV - 1/11
9-86314564-T-C UBQLN1 c.180+7851A>G - IntronicSNV - 1/10
16-89965988-T-G TCF25 c.1221+708T>G - IntronicSNV - 11/17
1-113936988-G-A MAGI3 c.316+3017G>A - IntronicSNV - 1/20
15-52567523-T-A MYO5C c.606+236A>T - IntronicSNV - 5/40
11-62148896-T-C ASRGL1 c.492-7709T>C - IntronicSNV - 4/6
12-27497449-G-A ARNTL2 c.31+11413G>A - IntronicSNV - 1/16
1-240525026-A-G FMN2 c.4858+5818A>G - IntronicSNV - 14/17
3-195258909-G-A PPP1R2 c.123-2207C>T - IntronicSNV - 1/5
2-64339277-T-C PELI1 c.1-3833A>G - IntronicSNV - 1/6
2-64339277-T-A PELI1 c.1-3833A>T - IntronicSNV - 1/6
9-5231712-T-G INSL4 c.189T>G p.Arg63Arg Synonymous 1/2 -
6-135356469-T-C HBS1L c.304+4242A>G - IntronicSNV - 3/16
9-4844778-A-C RCL1 c.867+97A>C - IntronicSNV - 7/8
22-20930991-T-G MED15 c.1153-5907T>G - IntronicSNV - 8/16
11-61549458-A-G MYRF c.2911+162A>G - IntronicSNV - 21/25
6-135322329-A-C HBS1L c.413+1543T>G - IntronicSNV - 4/16
10-79247942-C-T KCNMA1 c.379-84161G>A - IntronicSNV - 1/26
16-89958118-G-A TCF25 c.615-483G>A - IntronicSNV - 5/17
3-154814589-C-T MME c.196+11706C>T - IntronicSNV - 3/22
16-90024228-C-T DEF8 c.555+160C>T - IntronicSNV - 5/12
11-36639684-G-T C11orf74 c.136+7895G>T - IntronicSNV - 2/5
8-144775284-G-T ZNF707 c.257-557G>T - IntronicSNV - 6/6
6-145002650-G-A UTRN c.7652+2936G>A - IntronicSNV - 51/73
10-78899404-C-T KCNMA1 c.809-18598G>A - IntronicSNV - 5/26
3-195248351-T-A PPP1R2 c.403+2139A>T - IntronicSNV - 4/5
15-44428962-A-G FRMD5 c.102+58189T>C - IntronicSNV - 1/13
16-89965988-T-A TCF25 c.1221+708T>A - IntronicSNV - 11/17
6-31635267-A-G CSNK2B c.73-378A>G - IntronicSNV - 2/6
22-42025057-A-G XRCC6 c.195+823A>G - IntronicSNV - 3/12
1-114064898-T-G MAGI3 c.317-27239T>G - IntronicSNV - 1/20
11-44751545-A-G TSPAN18 c.-240+2708A>G - intron_variant - 1/9
6-25965552-A-G TRIM38 c.1-1199A>G - IntronicSNV - 2/7
7-5769489-T-C RNF216 c.1225-262A>G - IntronicSNV - 6/16
6-148690490-A-T SASH1 c.157-20780A>T - IntronicSNV - 1/19
2-74781577-T-C DOK1 c.1-305T>C - 5-UTRSNV 1/5 -
2-74781577-T-G DOK1 c.1-305T>G - 5-UTRSNV 1/5 -
6-33039507-A-G HLA-DPA1 c.100+1741T>C - IntronicSNV - 1/4
7-128938239-G-A AHCYL2 c.363+72959G>A - IntronicSNV - 1/16
1-12167392-T-C TNFRSF8 c.422-2231T>C - IntronicSNV - 4/14
16-90024447-T-C DEF8 c.555+379T>C - IntronicSNV - 5/12
11-61601872-C-G FADS2 c.208-3378C>G - IntronicSNV - 1/11
11-61601872-C-T FADS2 c.208-3378C>T - IntronicSNV - 1/11
3-107925396-G-A IFT57 c.654+79C>T - IntronicSNV - 5/10
3-132055396-A-C ACPP c.457-904A>C - IntronicSNV - 4/9
9-5233054-T-C INSL4 c.197-600T>C - IntronicSNV - 1/1
7-44186307-A-G GCK c.864-90T>C - IntronicSNV - 7/9
6-170621879-T-C FAM120B c.1-4600T>C - IntronicSNV - 1/10
7-39379431-G-T POU6F2 c.702G>T p.Gln234His Missense 6/11 -
3-30683034-C-G TGFBR2 c.170-3205C>G - IntronicSNV - 2/7
8-11587234-G-T GATA4 c.617-19194G>T - IntronicSNV - 2/6
12-21654198-G-A RECQL c.-140C>T - 5_prime_UTR_variant 1/15 -
12-21654198-G-C RECQL c.-140C>G - 5_prime_UTR_variant 1/15 -
11-2705343-A-G KCNQ1 c.1514+22032A>G - IntronicSNV - 11/15
11-46055904-C-T PHF21A c.153+42401G>A - IntronicSNV - 5/17
11-46055904-C-G PHF21A c.153+42401G>C - IntronicSNV - 5/17
1-234244766-G-A SLC35F3 c.284-122397G>A - IntronicSNV - 2/7
2-216277672-C-T FN1 c.1941+1888G>A - IntronicSNV - 13/43
20-61980592-G-A CHRNA4 c.1758+413C>T - IntronicSNV - 5/5
3-123359717-T-C MYLK c.4620-366A>G - IntronicSNV - 27/33
2-56142098-G-A EFEMP1 c.517+2702C>T - IntronicSNV - 5/11
13-23873095-G-A SGCG c.578+3469G>A - IntronicSNV - 6/7
16-89975496-G-A TCF25 c.1800-1503G>A - IntronicSNV - 16/17
9-125789751-G-T RABGAP1 c.1794+7013G>T - IntronicSNV - 13/25
3-195804763-C-T TFRC c.1-793G>A - IntronicSNV - 1/18
6-101312900-G-T ASCC3 c.91-810C>A - IntronicSNV - 2/41
7-6165595-C-T USP42 c.443-9877C>T - IntronicSNV - 3/17
4-57093788-C-G KIAA1211 c.-188-44699C>G - intron_variant - 2/10
4-57093788-C-A KIAA1211 c.-188-44699C>A - intron_variant - 2/10
18-21428036-C-G LAMA3 c.4136+404C>G - IntronicSNV - 32/74
18-21428036-C-T LAMA3 c.4136+404C>T - IntronicSNV - 32/74
20-61980592-G-T CHRNA4 c.1758+413C>A - IntronicSNV - 5/5
16-89974733-C-T TCF25 c.1799+1003C>T - IntronicSNV - 16/17
16-89898660-C-T SPIRE2 c.244+3458C>T - IntronicSNV - 1/14
10-32620896-G-C EPC1 c.153+14795C>G - IntronicSNV - 1/13
22-45189871-G-C PRR5-ARHGAP8 c.472+7385G>C - intron_variant - 5/14
6-150346211-T-C RAET1L c.85+312A>G - IntronicSNV - 1/4
6-170068606-G-A WDR27 c.457-325C>T - IntronicSNV - 4/25
16-89957169-T-G TCF25 c.615-1432T>G - IntronicSNV - 5/17
5-168639785-T-G SLIT3 c.342-19231A>C - IntronicSNV - 3/35
5-115477666-C-G COMMD10 c.510+7791C>G - IntronicSNV - 5/6
9-4852599-A-G RCL1 c.971+3049A>G - IntronicSNV - 8/8
11-61569306-C-G FADS1 c.*577G>C - 3-UTRSNV 12/12 -
20-30873322-C-T KIF3B c.-66+7754C>T - intron_variant - 1/8
10-88659047-C-T BMPR1A c.334-504C>T - IntronicSNV - 5/12
15-66070693-C-A DENND4A c.-95+13655G>T - intron_variant - 1/31
15-66070693-C-T DENND4A c.-95+13655G>A - intron_variant - 1/31
10-47693227-T-C ANTXRL c.1411-7608T>C - IntronicSNV - 16/16
17-2771512-C-T RAP1GAP2 c.81-37066C>T - IntronicSNV - 2/23
10-95202684-G-A MYOF c.236+9123C>T - IntronicSNV - 3/53
12-125449785-C-T DHX37 c.1736-233G>A - IntronicSNV - 13/26
4-72371327-T-C SLC4A4 c.2034+7918T>C - IntronicSNV - 13/22
12-125449785-C-G DHX37 c.1736-233G>C - IntronicSNV - 13/26
6-135287413-A-T HBS1L c.1917+54T>A - IntronicSNV - 16/16
13-24872400-C-T SPATA13 c.1708+527C>T - IntronicSNV - 10/11
13-24876099-G-A SPATA13 c.1784-637G>A - IntronicSNV - 11/11
20-62098002-C-T KCNQ2 c.296+5519G>A - IntronicSNV - 1/7
2-28769854-G-C PLB1 c.970-1873G>C - IntronicSNV - 14/56
7-104738833-C-T KMT2E c.1723-3039C>T - IntronicSNV - 14/25
1-165667548-G-C ALDH9A1 c.181+67C>G - IntronicSNV - 1/10
14-94032195-A-G UNC79 c.1225-6045A>G - IntronicSNV - 14/49
14-94032195-A-T UNC79 c.1225-6045A>T - IntronicSNV - 14/49
2-25542648-T-C DNMT3A c.1-5795A>G - IntronicSNV - 1/22
6-20206244-C-G MBOAT1 c.99+6123G>C - IntronicSNV - 1/12
12-104954884-A-G CHST11 c.119-40800A>G - IntronicSNV - 1/2
2-161279882-C-G RBMS1 c.76-55980G>C - IntronicSNV - 1/13
1-204327442-A-G PLEKHA6 c.-95+1380T>C - intron_variant - 1/22
16-88770010-G-C RNF166 c.156-2184C>G - IntronicSNV - 1/5
4-72337959-C-T SLC4A4 c.1500-457C>T - IntronicSNV - 10/22
8-28361824-G-C FZD3 c.189+1105G>C - IntronicSNV - 2/6
6-134625695-G-A SGK1 c.69+12835C>T - IntronicSNV - 1/13
10-106139081-G-A CFAP58 c.1174-706G>A - IntronicSNV - 8/17
1-165667548-G-T ALDH9A1 c.181+67C>A - IntronicSNV - 1/10
19-7189674-A-T INSR c.653-5026T>A - IntronicSNV - 2/21
16-89960814-A-G TCF25 c.828+548A>G - IntronicSNV - 7/17
4-72282753-G-A SLC4A4 c.675+19383G>A - IntronicSNV - 4/22
3-97452650-C-T EPHA6 c.2935-2119C>T - IntronicSNV - 15/17
2-161279882-C-T RBMS1 c.76-55980G>A - IntronicSNV - 1/13
5-172750436-G-A STC2 c.295-3C>T - IntronicSNV - 2/3
18-44042805-C-A RNF165 c.*6206C>A - IntergenicSNV 8/8 -
4-72337959-C-A SLC4A4 c.1500-457C>A - IntronicSNV - 10/22
4-6883012-C-T KIAA0232 c.*319C>T - 3-UTRSNV 10/10 -
3-195982696-T-C PCYT1A c.217+1963A>G - IntronicSNV - 4/9
8-28361824-G-A FZD3 c.189+1105G>A - IntronicSNV - 2/6
6-135259371-G-A ALDH8A1 c.442+4176C>T - IntronicSNV - 3/5
3-114063836-A-C ZBTB20 c.1585+5285T>G - IntronicSNV - 9/9
3-195611294-A-G TNK2 c.456+389T>C - IntronicSNV - 4/14
15-31901313-A-G OTUD7A c.152-38913T>C - IntronicSNV - 4/13
16-89909737-C-T SPIRE2 c.245-1993C>T - IntronicSNV - 1/14
2-74909765-T-C SEMA4F c.*2429T>C - 3-UTRSNV 14/14 -
4-99574380-A-C TSPAN5 c.81+4917T>G - IntronicSNV - 1/7
6-33039899-G-T HLA-DPA1 c.100+1349C>A - IntronicSNV - 1/4
11-61579760-T-C FADS1 c.684+183A>G - IntronicSNV - 3/11
12-27621637-G-A SMCO2 c.-11+1729G>A - intron_variant - 1/8
16-89992238-C-G TUBB3 c.57+2372C>G - IntronicSNV - 1/3
1-11735245-A-T MAD2L2 c.502-14T>A - IntronicSNV - 7/8
1-11735245-A-C MAD2L2 c.502-14T>G - IntronicSNV - 7/8
3-195981860-T-A PCYT1A c.217+2799A>T - IntronicSNV - 4/9
11-100900978-C-T PGR c.*8869G>A - 3-UTRSNV 8/8 -
1-109839896-C-T MYBPHL c.431-85G>A - IntronicSNV - 3/8
3-7730014-G-A GRM7 c.2698+8032G>A - IntronicSNV - 9/9
12-109609528-T-C ACACB c.926-82T>C - IntronicSNV - 4/52
16-89958127-T-C TCF25 c.615-474T>C - IntronicSNV - 5/17
3-132053754-A-T ACPP c.457-2546A>T - IntronicSNV - 4/9
12-120763440-C-A PLA2G1B c.194+224G>T - IntronicSNV - 2/3
6-97050263-A-G FHL5 c.1-1227A>G - IntronicSNV - 2/6
6-145002659-A-G UTRN c.7652+2945A>G - IntronicSNV - 51/73
20-62128735-T-C EEF1A2 c.144+238A>G - IntronicSNV - 2/7
2-100938917-G-A LONRF2 c.1-362C>T - 5-UTRSNV 1/12 -
2-100938917-G-C LONRF2 c.1-362C>G - 5-UTRSNV 1/12 -
3-71726270-T-G EIF4E3 c.*7563A>C - IntergenicSNV 8/8 -
1-234244890-T-C SLC35F3 c.284-122273T>C - IntronicSNV - 2/7
15-26890898-T-C GABRB3 c.241-24217A>G - IntronicSNV - 3/8
1-12486319-C-T VPS13D c.12333+9439C>T - IntronicSNV - 65/69
3-195244231-G-C PPP1R2 c.572-491C>G - IntronicSNV - 5/5
1-167040788-C-A GPA33 c.198+1834G>T - IntronicSNV - 2/6
5-82792625-A-C VCAN c.748+2875A>C - IntronicSNV - 5/14
1-169162603-T-C NME7 c.991-23811A>G - IntronicSNV - 10/11
6-135322744-C-T HBS1L c.413+1128G>A - IntronicSNV - 4/16
13-99402654-C-G SLC15A1 c.4+2195G>C - IntronicSNV - 1/22
13-50333778-G-A KPNA3 c.70-12649C>T - IntronicSNV - 1/16
19-8953383-G-A MBD3L1 c.29G>A p.Arg10His Missense 1/1 -
1-205896235-G-A SLC26A9 c.1293+104C>T - IntronicSNV - 11/20
6-127808155-G-C SOGA3 c.1486-4026C>G - IntronicSNV - 4/11
11-61551356-T-C MYRF c.3033T>C p.Ser1011Ser Synonymous 23/26 -
4-99829966-C-G EIF4E c.19-6833G>C - IntronicSNV - 1/6
12-124860705-G-A NCOR2 c.2168-1696C>T - IntronicSNV - 20/48
6-135258010-T-A ALDH8A1 c.443-3840A>T - IntronicSNV - 3/5
6-135258010-T-G ALDH8A1 c.443-3840A>C - IntronicSNV - 3/5
6-29912410-G-A HLA-A c.1012+17G>A - IntronicSNV - 5/7
6-135322744-C-G HBS1L c.413+1128G>C - IntronicSNV - 4/16
13-99402654-C-T SLC15A1 c.4+2195G>A - IntronicSNV - 1/22
9-4845520-A-G RCL1 c.867+839A>G - IntronicSNV - 7/8
13-50333778-G-T KPNA3 c.70-12649C>A - IntronicSNV - 1/16
16-89962635-C-A TCF25 c.1022+144C>A - IntronicSNV - 9/17
1-165655559-C-T ALDH9A1 c.328-3212G>A - IntronicSNV - 2/10
1-165667512-T-A ALDH9A1 c.181+103A>T - IntronicSNV - 1/10
1-169101935-C-T ATP1B1 c.*1142C>T - 3-UTRSNV 6/6 -
1-165667512-T-C ALDH9A1 c.181+103A>G - IntronicSNV - 1/10
1-169101935-C-G ATP1B1 c.*1142C>G - 3-UTRSNV 6/6 -
1-78973075-T-C PTGFR c.798+13849T>C - IntronicSNV - 2/2
6-29913639-A-G HLA-A c.*407A>G - 3-UTRSNV 8/8 -
11-120093920-A-G OAF c.232-2450A>G - IntronicSNV - 1/3
11-120093920-A-C OAF c.232-2450A>C - IntronicSNV - 1/3
6-144958810-C-T UTRN c.7480-40732C>T - IntronicSNV - 50/73
22-42280135-G-C SREBF2 c.2039-711G>C - IntronicSNV - 10/18
3-132055798-C-T ACPP c.457-502C>T - IntronicSNV - 4/9
2-50419443-T-C NRXN1 c.3666+44484A>G - IntronicSNV - 19/23
3-127947272-C-T EEFSEC c.317-18407C>T - IntronicSNV - 1/6
18-44187365-C-T LOXHD1 c.760-3173G>A - IntronicSNV - 6/39
17-42052439-G-C PYY c.-462-8539C>G - intron_variant - 1/6
3-13008005-C-G IQSEC1 c.65+882G>C - IntronicSNV - 1/13
1-11854476-T-G MTHFR c.1286A>C p.Glu429Ala Missense 8/12 -
20-18377897-A-G DZANK1 c.1537-707T>C - IntronicSNV - 14/20
12-2105855-C-T DCP1B c.191+1246G>A - IntronicSNV - 2/8
11-120087541-C-T OAF c.231+5323C>T - IntronicSNV - 1/3
6-135299368-T-C HBS1L c.1671+449A>G - IntronicSNV - 14/16
11-61557826-T-C TMEM258 c.113+139A>G - IntronicSNV - 2/3
2-242113166-C-A PPP1R7 c.906+3884C>A - IntronicSNV - 9/9
17-65870073-C-G BPTF c.1661-860C>G - IntronicSNV - 3/29
6-31503988-G-C DDX39B c.616+289C>G - IntronicSNV - 5/10
3-195515340-G-A MUC4 c.3111C>T p.His1037His Synonymous 2/25 -
3-195515340-G-C MUC4 c.3111C>G p.His1037Gln Missense 2/25 -
6-32824903-G-A PSMB9 c.129-137G>A - IntronicSNV - 2/5
12-2091257-C-T DCP1B c.319+11173G>A - IntronicSNV - 3/8
6-29913430-C-T HLA-A c.*198C>T - 3-UTRSNV 8/8 -
9-4855858-A-T RCL1 c.972-4267A>T - IntronicSNV - 8/8
2-120274003-T-C SCTR c.72+7728A>G - IntronicSNV - 1/12
6-29910324-G-C HLA-A c.1-7G>C - 5-UTRSNV 1/8 -
6-170850278-G-A PSMB1 c.433+2411C>T - IntronicSNV - 4/5
6-30071110-T-C TRIM31 c.*203A>G - 3-UTRSNV 9/9 -
6-30071110-T-A TRIM31 c.*203A>T - 3-UTRSNV 9/9 -
5-156938327-G-A ADAM19 c.739-1852C>T - IntronicSNV - 8/22
8-11587234-G-A GATA4 c.617-19194G>A - IntronicSNV - 2/6
19-6151106-C-G ACSBG2 c.298-612C>G - IntronicSNV - 3/14
19-6151106-C-A ACSBG2 c.298-612C>A - IntronicSNV - 3/14
4-72352596-C-G SLC4A4 c.1772-69C>G - IntronicSNV - 11/22
4-72352596-C-T SLC4A4 c.1772-69C>T - IntronicSNV - 11/22
21-46932328-G-A COL18A1 c.*16G>A - 3-UTRSNV 41/41 -
11-61573540-C-T FADS1 c.976+596G>A - IntronicSNV - 6/11
6-33546825-T-C BAK1 c.-32+977A>G - intron_variant - 1/5
5-145838075-A-T TCERG1 c.439-372A>T - IntronicSNV - 3/20
11-61551927-A-C MYRF c.3180+70A>C - IntronicSNV - 24/25
9-27112343-T-C TEK c.52+2703T>C - IntronicSNV - 1/22
6-135269187-C-A ALDH8A1 c.138+1867G>T - IntronicSNV - 1/5
11-61547237-C-T MYRF c.2221-77C>T - IntronicSNV - 16/25
10-98165797-T-C TLL2 c.1165-706A>G - IntronicSNV - 9/20
1-156743173-G-A PRCC c.468+5142G>A - IntronicSNV - 1/6
15-33011851-G-T GREM1 c.-2+1489G>T - intron_variant - 1/1
5-145832433-C-T TCERG1 c.60-2186C>T - IntronicSNV - 1/20
2-242068968-G-A PASK c.1464-2102C>T - IntronicSNV - 9/17
20-264764-C-G C20orf96 c.188-42G>C - IntronicSNV - 3/10
20-264764-C-T C20orf96 c.188-42G>A - IntronicSNV - 3/10
20-264764-C-A C20orf96 c.188-42G>T - IntronicSNV - 3/10
10-134018834-C-T DPYSL4 c.*400C>T - 3-UTRSNV 14/14 -
13-72434360-A-G DACH1 c.854+5694T>C - IntronicSNV - 1/6
17-25895816-A-C KSR1 c.1-8741A>C - IntronicSNV - 2/21
9-140431221-T-C PNPLA7 c.672+3873A>G - IntronicSNV - 7/33
1-232604130-A-T SIPA1L2 c.2244-2968T>A - IntronicSNV - 6/20
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
2-170205425-T-C LRP2 c.79+13406A>G - IntronicSNV - 1/78
3-169300219-C-A MECOM c.37+80905G>T - IntronicSNV - 1/16
22-34134039-G-C LARGE1 c.106+23319C>G - IntronicSNV - 2/14
22-34134039-G-T LARGE1 c.106+23319C>A - IntronicSNV - 2/14
22-29902920-G-A THOC5 c.*1526C>T - IntergenicSNV 20/20 -
11-61582708-T-C FADS1 c.375+1319A>G - IntronicSNV - 1/11
16-89896243-C-G SPIRE2 c.244+1041C>G - IntronicSNV - 1/14
6-135371148-C-G HBS1L c.109+572G>C - IntronicSNV - 2/16
1-50623740-T-C ELAVL4 c.250+12871T>C - IntronicSNV - 2/6
7-95610203-G-A DYNC1I1 c.631+3290G>A - IntronicSNV - 7/16
1-155927752-G-A ARHGEF2 c.1462-79C>T - IntronicSNV - 12/21
7-104409059-G-A LHFPL3 c.682+31701G>A - IntronicSNV - 2/2
7-154669744-C-T DPP6 c.2078+1934C>T - intron_variant - 20/25
13-50333864-T-C KPNA3 c.70-12735A>G - IntronicSNV - 1/16
9-19740983-C-T SLC24A2 c.930+44952G>A - IntronicSNV - 1/9
9-136746204-C-T VAV2 c.322-19650G>A - IntronicSNV - 2/29
22-42526694-G-A CYP2D6 c.100C>T p.Pro34Ser Missense 1/9 -
3-169300219-C-T MECOM c.37+80905G>A - IntronicSNV - 1/16
3-169300219-C-G MECOM c.37+80905G>C - IntronicSNV - 1/16
1-161682441-G-A FCRLA c.784+433G>A - intron_variant - 4/4
16-89975572-A-G TCF25 c.1800-1427A>G - IntronicSNV - 16/17
16-89896243-C-T SPIRE2 c.244+1041C>T - IntronicSNV - 1/14
4-99936217-G-C METAP1 c.115-13801G>C - IntronicSNV - 1/10
4-99936217-G-A METAP1 c.115-13801G>A - IntronicSNV - 1/10
1-66043112-A-G LEPR c.494+4980A>G - IntronicSNV - 5/19
4-76577839-A-G G3BP2 c.825+1328T>C - IntronicSNV - 8/11
11-61619829-C-A FADS2 c.744+4073C>A - IntronicSNV - 5/11
11-61619829-C-T FADS2 c.744+4073C>T - IntronicSNV - 5/11
2-179747968-G-A CCDC141 c.1719+1660C>T - IntronicSNV - 11/23
16-89993204-C-A TUBB3 c.57+3338C>A - IntronicSNV - 1/3
16-89993204-C-G TUBB3 c.57+3338C>G - IntronicSNV - 1/3
2-154731287-G-A GALNT13 c.-177+2471G>A - intron_variant - 1/12
22-29903117-T-C THOC5 c.*1329A>G - IntergenicSNV 20/20 -
10-55741088-A-G PCDH15 c.2868+14321T>C - IntronicSNV - 21/32
11-61621556-G-C FADS2 c.745-2927G>C - IntronicSNV - 5/11
1-159171603-C-A CADM3 c.*891C>A - 3-UTRSNV 10/10 -
1-159171603-C-G CADM3 c.*891C>G - 3-UTRSNV 10/10 -
5-10422579-A-G MARCH6 c.2284-1268A>G - IntronicSNV - 22/25
16-89947457-A-G TCF25 c.193-2302A>G - IntronicSNV - 1/17
2-113884202-G-C IL1RN c.74-1064G>C - IntronicSNV - 2/5
16-90026049-C-G DEF8 c.697+486C>G - IntronicSNV - 6/12
3-66444697-A-C LRIG1 c.1305-70T>G - IntronicSNV - 11/18
1-12546848-C-A VPS13D c.12663-10706C>A - IntronicSNV - 67/69
11-61641889-G-A FADS3 c.1287-552C>T - IntronicSNV - 11/11
1-205883890-G-C SLC26A9 c.*595C>G - 3-UTRSNV 21/21 -
1-205883890-G-T SLC26A9 c.*595C>A - 3-UTRSNV 21/21 -
1-12546848-C-G VPS13D c.12663-10706C>G - IntronicSNV - 67/69
16-89733657-A-G SPATA33 c.209-2037A>G - IntronicSNV - 2/2
11-61609750-C-T FADS2 c.618+1553C>T - IntronicSNV - 4/11
3-195258384-C-T PPP1R2 c.123-1682G>A - IntronicSNV - 1/5
8-73848139-A-T KCNB2 c.580-31A>T - IntronicSNV - 2/2
15-65153690-G-A PLEKHO2 c.399G>A p.Lys133Lys Synonymous 5/6 -
5-146650895-C-G STK32A c.53-6792C>G - IntronicSNV - 2/6
5-7870973-A-G MTRR c.66A>G p.Ile22Met Missense 2/15 -
3-195496792-T-C MUC4 c.13398+295A>G - IntronicSNV - 6/24
22-42906861-T-C RRP7A c.*2055A>G - 3-UTRSNV 7/7 -
22-42906861-T-A RRP7A c.*2055A>T - 3-UTRSNV 7/7 -
3-195128538-A-G ACAP2 c.54-15662T>C - IntronicSNV - 1/22
17-36996478-G-A C17orf98 c.207+958C>T - IntronicSNV - 1/2
9-14226139-A-C NFIB c.563-46360T>G - IntronicSNV - 2/8
20-30810276-G-A POFUT1 c.542+5752G>A - IntronicSNV - 4/6
7-40447971-G-A SUGCT c.727-40915G>A - IntronicSNV - 9/14
1-169114829-C-T NME7 c.1099-12774G>A - IntronicSNV - 11/11
12-112280231-C-A MAPKAPK5 c.1-307C>A - 5-UTRSNV 1/14 -
6-90805832-T-G BACH2 c.-161-7004A>C - intron_variant - 4/8
6-33040307-G-A HLA-DPA1 c.100+941C>T - IntronicSNV - 1/4
4-185566831-C-T CASP3 c.-16+2788G>A - intron_variant - 2/7
7-101537460-G-T CUX1 c.64-21935G>T - IntronicSNV - 1/22
1-151488782-T-G CGN c.1-2214T>G - IntronicSNV - 1/20
10-45921877-C-T ALOX5 c.834+1297C>T - IntronicSNV - 6/13
14-74473825-G-A ENTPD5 c.-71+3969C>T - intron_variant - 3/15
4-99945207-G-A METAP1 c.115-4811G>A - IntronicSNV - 1/10
15-72283291-C-T MYO9A c.1722+153G>A - IntronicSNV - 11/41
11-47116823-T-G C11orf49 c.281-42373T>G - IntronicSNV - 3/8
20-45256164-T-G SLC13A3 c.1-13830A>C - IntronicSNV - 2/13
20-30877317-A-G KIF3B c.-66+11749A>G - intron_variant - 1/8
5-172436519-G-C ATP6V0E1 c.153-10722G>C - IntronicSNV - 2/3
16-90024900-A-G DEF8 c.556-522A>G - IntronicSNV - 5/12
3-195244647-T-G PPP1R2 c.572-907A>C - IntronicSNV - 5/5
16-89986760-A-G MC1R c.*140A>G - 3-UTRSNV 1/1 -
19-34681976-G-A LSM14A c.122-3407G>A - IntronicSNV - 1/9
2-26928811-G-A KCNK3 c.283+12785G>A - IntronicSNV - 1/1
4-16705623-T-C LDB2 c.235+55158A>G - IntronicSNV - 2/8
22-45324974-G-A PHF21B c.121-8604C>T - IntronicSNV - 2/12
12-112280231-C-T MAPKAPK5 c.1-307C>T - 5-UTRSNV 1/14 -
3-128008032-C-T EEFSEC c.786+24408C>T - IntronicSNV - 4/6
11-61603358-A-T FADS2 c.208-1892A>T - IntronicSNV - 1/11
2-113410015-A-G SLC20A1 c.562-264A>G - IntronicSNV - 4/10
4-185566781-C-T CASP3 c.-16+2838G>A - intron_variant - 2/7
19-8953383-G-C MBD3L1 c.29G>C p.Arg10Pro Missense 1/1 -
6-134630812-C-T SGK1 c.69+7718G>A - IntronicSNV - 1/13
5-132073002-A-G KIF3A c.6+104T>C - IntronicSNV - 1/16
5-115529052-A-G COMMD10 c.510+59177A>G - IntronicSNV - 5/6
3-129312989-A-G PLXND1 c.1312-4619T>C - IntronicSNV - 1/35
6-169993405-A-C WDR27 c.2424+8910T>G - IntronicSNV - 23/25
11-61500487-C-T DAGLA c.974+1574C>T - IntronicSNV - 9/19
13-26534333-G-A ATP8A2 c.3184-1380G>A - IntronicSNV - 33/36
2-108997262-C-T SULT1C4 c.170-956C>T - IntronicSNV - 1/6
11-126265841-A-T ST3GAL4 c.1-10210A>T - IntronicSNV - 1/10
11-126265841-A-G ST3GAL4 c.1-10210A>G - IntronicSNV - 1/10
16-89930087-T-A SPIRE2 c.1710+69T>A - IntronicSNV - 11/14
20-31009292-C-T ASXL1 c.253-6639C>T - IntronicSNV - 4/12
1-8482032-T-C RERE c.1284+755A>G - IntronicSNV - 12/22
2-64368896-C-G PELI1 c.-70+2319G>C - intron_variant - 1/6
20-40208900-G-A CHD6 c.1-28924C>T - IntronicSNV - 1/36
20-40208900-G-C CHD6 c.1-28924C>G - IntronicSNV - 1/36
7-76825242-G-A FGL2 c.*354C>T - 3-UTRSNV 2/2 -
22-39711351-A-G RPL3 c.688+23T>C - IntronicSNV - 5/9
19-7187971-C-T INSR c.653-3323G>A - IntronicSNV - 2/21
11-61571348-C-T FADS1 c.1054-109G>A - IntronicSNV - 7/11
10-1088393-A-G IDI1 c.537+179T>C - IntronicSNV - 4/4
8-86353250-G-T CA3 c.233-1052G>T - IntronicSNV - 2/6
6-135252195-G-T ALDH8A1 c.699+1719C>A - IntronicSNV - 4/5
1-22444975-C-T WNT4 c.*1568G>A - 3-UTRSNV 5/5 -
1-234353466-C-G SLC35F3 c.284-13697C>G - IntronicSNV - 2/7
7-76838874-C-G CCDC146 c.157-27390C>G - IntronicSNV - 2/18
12-112518803-G-A NAA25 c.477+61C>T - IntronicSNV - 5/23
6-32035861-A-G TNXB c.6221-100T>C - IntronicSNV - 17/43
1-169101060-G-A ATP1B1 c.*267G>A - 3-UTRSNV 6/6 -
11-16999569-T-C PLEKHA7 c.221+35967A>G - IntronicSNV - 3/22
7-6199072-G-C USP42 c.3944-9G>C - IntronicSNV - 16/17
4-141561949-C-T TBC1D9 c.2338-1367G>A - IntronicSNV - 13/20
6-135305304-T-C HBS1L c.1366+1175A>G - IntronicSNV - 11/16
7-28996560-C-T TRIL c.1103G>A p.Arg368Gln Missense 3/3 -
1-234353466-C-T SLC35F3 c.284-13697C>T - IntronicSNV - 2/7
4-47540509-A-G ATP10D c.1396+1554A>G - IntronicSNV - 9/22
16-89904834-G-A SPIRE2 c.245-6896G>A - IntronicSNV - 1/14
16-89904834-G-C SPIRE2 c.245-6896G>C - IntronicSNV - 1/14
5-142596013-C-T ARHGAP26 c.2356+2360C>T - IntronicSNV - 22/22
7-127237312-T-G FSCN3 c.960+812T>G - IntronicSNV - 3/6
6-135315398-C-T HBS1L c.840-385G>A - IntronicSNV - 6/16
7-127237312-T-C FSCN3 c.960+812T>C - IntronicSNV - 3/6
20-39808050-C-G ZHX3 c.*5781G>C - 3-UTRSNV 4/4 -
20-19241476-A-G SLC24A3 c.143-20127A>G - IntronicSNV - 1/16
3-195529118-T-C MUC4 c.82+9489A>G - IntronicSNV - 1/24
2-133995981-A-G NCKAP5 c.144-24630T>C - IntronicSNV - 4/17
10-33517583-C-T NRP1 c.982-2366G>A - IntronicSNV - 6/11
2-172381046-G-A CYBRD1 c.193+1798G>A - IntronicSNV - 1/3
10-33517583-C-A NRP1 c.982-2366G>T - IntronicSNV - 6/11
22-43697531-C-T SCUBE1 c.350-10345G>A - IntronicSNV - 3/21
3-195267789-A-T PPP1R2 c.122+1938T>A - IntronicSNV - 1/5
6-135293142-G-A HBS1L c.1672-2666C>T - IntronicSNV - 14/16
16-90026775-A-G DEF8 c.698-564A>G - IntronicSNV - 6/12
4-99945207-G-C METAP1 c.115-4811G>C - IntronicSNV - 1/10
22-34291465-G-A LARGE1 c.-83+24518C>T - intron_variant - 1/14
1-66102257-G-A LEPR c.3057G>A p.Pro1019Pro Synonymous 20/20 -
12-111725185-C-A CUX2 c.302-4037C>A - IntronicSNV - 4/21
3-97460543-G-C EPHA6 c.3128+5581G>C - IntronicSNV - 16/17
22-34142936-T-G LARGE1 c.106+14422A>C - IntronicSNV - 2/14
11-61611216-C-T FADS2 c.618+3019C>T - IntronicSNV - 4/11
11-12912949-C-A TEAD1 c.699+8277C>A - IntronicSNV - 9/12
10-28405411-G-C MPP7 c.952+3169C>G - IntronicSNV - 13/18
10-28405411-G-T MPP7 c.952+3169C>A - IntronicSNV - 13/18
15-41106485-A-C ZFYVE19 c.*61A>C - 3-UTRSNV 12/12 -
16-90025640-G-C DEF8 c.697+77G>C - IntronicSNV - 6/12
15-41106485-A-T ZFYVE19 c.*61A>T - 3-UTRSNV 12/12 -
5-137603293-G-A GFRA3 c.92-3056C>T - IntronicSNV - 1/7
16-90031419-G-A DEF8 c.1436+436G>A - IntronicSNV - 12/12
3-31863633-A-G OSBPL10 c.537+54292T>C - IntronicSNV - 3/10
1-31350501-G-C SDC3 c.257-489C>G - IntronicSNV - 2/4
1-31350501-G-T SDC3 c.257-489C>A - IntronicSNV - 2/4
7-105612703-T-G CDHR3 c.47-2587T>G - IntronicSNV - 1/18
11-61631690-T-A FADS2 c.1157+432T>A - IntronicSNV - 10/11
3-188552395-C-G LPP c.1411-31593C>G - IntronicSNV - 8/10
11-61567753-C-A FADS1 c.*2130G>T - 3-UTRSNV 12/12 -
16-89956249-T-C TCF25 c.614+2124T>C - IntronicSNV - 5/17
11-10664138-G-C MRVI1 c.199-8520C>G - IntronicSNV - 1/19
6-29911011-C-T HLA-A c.344-34C>T - IntronicSNV - 2/7
7-6435901-G-A RAC1 c.226-2392G>A - IntronicSNV - 3/6
3-195253881-G-A PPP1R2 c.231-2187C>T - IntronicSNV - 2/5
6-149829761-C-T PPIL4 c.1228-2921G>A - IntronicSNV - 12/12
15-28213850-C-T OCA2 c.1504-1882G>A - IntronicSNV - 14/23
1-31350501-G-A SDC3 c.257-489C>T - IntronicSNV - 2/4
6-31774203-C-T LSM2 c.4-284G>A - IntronicSNV - 1/4
16-89994413-G-C TUBB3 c.57+4547G>C - IntronicSNV - 1/3
2-109217901-C-T LIMS1 c.-5+13020C>T - intron_variant - 1/9
2-63612811-A-G WDPCP c.1436-3582T>C - IntronicSNV - 10/17
7-147738494-T-C CNTNAP2 c.2383+63413T>C - IntronicSNV - 15/23
7-120179545-G-A KCND2 c.1116-193412G>A - IntronicSNV - 1/5
10-88622353-A-G BMPR1A c.1-13423A>G - IntronicSNV - 2/12
22-34137172-C-A LARGE1 c.106+20186G>T - IntronicSNV - 2/14
7-154654273-T-G DPP6 c.1715-5432T>G - intron_variant - 17/25
5-146832485-C-A DPYSL3 c.39+627G>T - IntronicSNV - 1/13
7-154654273-T-C DPP6 c.1715-5432T>C - intron_variant - 17/25
3-195267378-A-G PPP1R2 c.122+2349T>C - IntronicSNV - 1/5
6-29912614-C-A HLA-A c.1012+221C>A - IntronicSNV - 5/7
6-135287413-A-G HBS1L c.1917+54T>C - IntronicSNV - 16/16
20-25521346-A-T NINL c.1-14123T>A - IntronicSNV - 1/23
20-25521346-A-G NINL c.1-14123T>C - IntronicSNV - 1/23
20-62373983-G-A SLC2A4RG c.960+15G>A - IntronicSNV - 6/7
22-34139032-C-T LARGE1 c.106+18326G>A - IntronicSNV - 2/14
16-89508541-A-G ANKRD11 c.-144-23765T>C - intron_variant - 1/12
8-13110302-C-A DLC1 c.1348+52476G>T - IntronicSNV - 5/17
8-13110302-C-G DLC1 c.1348+52476G>C - IntronicSNV - 5/17
6-135345947-C-T HBS1L c.304+14764G>A - IntronicSNV - 3/16
16-89904834-G-T SPIRE2 c.245-6896G>T - IntronicSNV - 1/14
6-135255036-G-A ALDH8A1 c.443-866C>T - IntronicSNV - 3/5
4-72339792-C-A SLC4A4 c.1771+1105C>A - IntronicSNV - 11/22
8-82581392-G-C IMPA1 c.566+1782C>G - IntronicSNV - 7/8
6-111316362-C-G RPF2 c.235-2024C>G - IntronicSNV - 4/9
6-135262976-T-A ALDH8A1 c.442+571A>T - IntronicSNV - 3/5
20-25207773-C-A ENTPD6 c.*1540C>A - IntergenicSNV 14/14 -
20-25207773-C-G ENTPD6 c.*1540C>G - IntergenicSNV 14/14 -
17-7395549-A-G POLR2A c.94-3711A>G - IntronicSNV - 1/28
20-25207773-C-T ENTPD6 c.*1540C>T - IntergenicSNV 14/14 -
5-10464107-C-T ROPN1L c.594-853C>T - IntronicSNV - 4/4
11-32717041-G-A CCDC73 c.390+3756C>T - IntronicSNV - 6/17
1-205900345-A-C SLC26A9 c.552+643T>G - IntronicSNV - 5/20
4-155347393-A-T DCHS2 c.2053-48797T>A - IntronicSNV - 1/7
16-90025135-C-G DEF8 c.556-287C>G - IntronicSNV - 5/12
16-90025135-C-T DEF8 c.556-287C>T - IntronicSNV - 5/12
1-198176723-T-C NEK7 c.1-24988T>C - IntronicSNV - 1/9
1-205900345-A-G SLC26A9 c.552+643T>C - IntronicSNV - 5/20
1-205900345-A-T SLC26A9 c.552+643T>A - IntronicSNV - 5/20
16-89946649-C-A TCF25 c.193-3110C>A - IntronicSNV - 1/17
5-132279219-T-C AFF4 c.1-6338A>G - IntronicSNV - 1/20
4-91459899-T-C CCSER1 c.1724+70394T>C - IntronicSNV - 5/10
9-107586238-C-A ABCA1 c.2656+508G>T - IntronicSNV - 18/49
16-90023405-C-A DEF8 c.406-514C>A - IntronicSNV - 4/12
15-28205564-A-G OCA2 c.1637-2683T>C - IntronicSNV - 15/23
2-242113104-T-C PPP1R7 c.906+3822T>C - IntronicSNV - 9/9
17-73334164-C-T GRB2 c.79-5286G>A - IntronicSNV - 2/5
16-89954138-G-C TCF25 c.614+13G>C - IntronicSNV - 5/17
4-7371403-C-T SORCS2 c.481-26612C>T - IntronicSNV - 1/26
2-113412003-C-T SLC20A1 c.658+1628C>T - IntronicSNV - 5/10
11-46900659-G-C LRP4 c.3004+18C>G - IntronicSNV - 21/37
22-20809620-C-T KLHL22 c.1305+2475G>A - IntronicSNV - 5/6
7-101548206-T-C CUX1 c.64-11189T>C - IntronicSNV - 1/22
3-126439532-G-A CHCHD6 c.88-6389G>A - IntronicSNV - 1/7
8-27328267-C-T CHRNA2 c.73+236G>A - IntronicSNV - 2/6
2-113884202-G-T IL1RN c.74-1064G>T - IntronicSNV - 2/5
16-89760250-C-G CDK10 c.396-331C>G - IntronicSNV - 8/12
18-49891446-A-G DCC c.91+24198A>G - IntronicSNV - 1/28
22-29902037-C-T THOC5 c.*2409G>A - IntergenicSNV 20/20 -
3-169276415-C-A MECOM c.37+104709G>T - IntronicSNV - 1/16
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
9-95494447-C-A BICD2 c.241-2929G>T - IntronicSNV - 1/7
9-95494447-C-T BICD2 c.241-2929G>A - IntronicSNV - 1/7
11-46900659-G-T LRP4 c.3004+18C>A - IntronicSNV - 21/37
3-132235077-C-T DNAJC13 c.5486-189C>T - IntronicSNV - 46/55
3-195262388-T-C PPP1R2 c.123-5686A>G - IntronicSNV - 1/5
16-89877269-T-C FANCA c.427-59A>G - IntronicSNV - 4/42
16-89947861-T-A TCF25 c.193-1898T>A - IntronicSNV - 1/17
4-143444959-C-G INPP4B c.1-92547G>C - IntronicSNV - 2/26
3-195259206-G-T PPP1R2 c.123-2504C>A - IntronicSNV - 1/5
8-86378134-C-T CA2 c.232+436C>T - IntronicSNV - 2/6
6-31094016-T-G PSORS1C1 c.1-3394T>G - IntronicSNV - 1/5
7-39121500-A-T POU6F2 c.19-3960A>T - IntronicSNV - 2/10
22-46835000-T-C CELSR1 c.4406+86A>G - IntronicSNV - 3/34
19-49206631-A-T FUT2 c.418A>T p.Ile140Phe Missense 2/2 -
11-47116823-T-C C11orf49 c.281-42373T>C - IntronicSNV - 3/8
10-97407793-A-G ALDH18A1 c.89-4830T>C - IntronicSNV - 2/17
16-89913816-G-A SPIRE2 c.288+2043G>A - IntronicSNV - 2/14
16-89811751-C-G FANCA c.3514-272G>C - IntronicSNV - 35/42
5-122476457-G-C PRDM6 c.901-15121G>C - IntronicSNV - 3/7
5-122476457-G-A PRDM6 c.901-15121G>A - IntronicSNV - 3/7
15-27726110-G-T GABRG3 c.*127G>T - 3-UTRSNV 6/6 -
16-89943214-A-G TCF25 c.192+2947A>G - IntronicSNV - 1/17
4-91485877-C-T CCSER1 c.1725-63299C>T - IntronicSNV - 5/10
16-89811751-C-T FANCA c.3514-272G>A - IntronicSNV - 35/42
6-135262747-C-T ALDH8A1 c.442+800G>A - IntronicSNV - 3/5
2-216232978-C-A FN1 c.6311-228G>T - IntronicSNV - 39/43
7-151510459-C-G PRKAG2 c.115-26832G>C - IntronicSNV - 1/15
16-89941438-T-G TCF25 c.192+1171T>G - IntronicSNV - 1/17
16-89941438-T-C TCF25 c.192+1171T>C - IntronicSNV - 1/17
4-6857278-T-C KIAA0232 c.370-1613T>C - IntronicSNV - 4/9
11-114403674-G-A NXPE1 c.1-2371C>T - IntronicSNV - 2/5
20-48531377-C-G SPATA2 c.-103+540G>C - intron_variant - 1/2
20-48531377-C-A SPATA2 c.-103+540G>T - intron_variant - 1/2
20-48531377-C-T SPATA2 c.-103+540G>A - intron_variant - 1/2
4-72352039-C-G SLC4A4 c.1772-626C>G - IntronicSNV - 11/22
16-90025320-C-T DEF8 c.556-102C>T - IntronicSNV - 5/12
4-72303549-G-A SLC4A4 c.676-2784G>A - IntronicSNV - 4/22
16-89961661-G-A TCF25 c.928+116G>A - IntronicSNV - 8/17
3-108107951-C-A MYH15 c.5491-30G>T - IntronicSNV - 38/41
9-4844265-T-C RCL1 c.711-260T>C - IntronicSNV - 6/8
4-141558694-C-T TBC1D9 c.2505+1546G>A - IntronicSNV - 15/20
4-141558694-C-A TBC1D9 c.2505+1546G>T - IntronicSNV - 15/20
4-141558694-C-G TBC1D9 c.2505+1546G>C - IntronicSNV - 15/20
22-39709009-G-A RPL3 c.1168-20C>T - IntronicSNV - 9/9
9-136700605-C-T VAV2 c.381-1143G>A - IntronicSNV - 3/29
1-155424065-T-C ASH1L c.5086+5523A>G - IntronicSNV - 4/27
14-105994592-A-G TMEM121 c.1-580A>G - IntronicSNV - 1/1
X-39919182-C-T BCOR c.4326+2210G>A - IntronicSNV - 10/14
12-112437149-C-T TMEM116 c.-199+5912G>A - intron_variant - 2/9
10-114726843-G-A TCF7L2 c.381+15477G>A - IntronicSNV - 3/13
6-135269065-T-A ALDH8A1 c.138+1989A>T - IntronicSNV - 1/5
13-30114664-G-C SLC7A1 c.1-4339C>G - IntronicSNV - 2/12
19-11164968-C-T SMARCA4 c.4425-3963C>T - IntronicSNV - 30/34
4-72360239-C-T SLC4A4 c.1843-2979C>T - IntronicSNV - 12/22
19-34710817-A-G LSM14A c.1136+35A>G - IntronicSNV - 8/9
19-34710817-A-T LSM14A c.1136+35A>T - IntronicSNV - 8/9
9-88355864-A-C AGTPBP1 c.-34+826T>G - intron_variant - 1/25
3-66493465-G-A LRIG1 c.365+8518C>T - IntronicSNV - 3/18
7-43461932-A-G HECW1 c.801+14602A>G - IntronicSNV - 8/29
7-43461932-A-C HECW1 c.801+14602A>C - IntronicSNV - 8/29
1-169229855-A-G NME7 c.755-22930T>C - IntronicSNV - 7/11
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
6-135265649-A-G ALDH8A1 c.139-545T>C - IntronicSNV - 1/5
8-120224806-A-G MAL2 c.132+3962A>G - intron_variant - 2/4
2-71560665-A-T ZNF638 c.-203+1660A>T - intron_variant - 1/27
6-31001009-A-G MUC22 c.5055+651A>G - IntronicSNV - 4/4
11-61571382-G-A FADS1 c.1054-143C>T - IntronicSNV - 7/11
22-29902382-C-A THOC5 c.*2064G>T - IntergenicSNV 20/20 -
1-232604166-C-T SIPA1L2 c.2243+2951G>A - IntronicSNV - 6/20
1-232604166-C-A SIPA1L2 c.2243+2951G>T - IntronicSNV - 6/20
6-11723542-G-A ADTRP c.658+40C>T - IntronicSNV - 5/5
2-172813241-T-C HAT1 c.309+3722T>C - IntronicSNV - 4/10
3-195262481-A-C PPP1R2 c.123-5779T>G - IntronicSNV - 1/5
22-34154020-C-T LARGE1 c.106+3338G>A - IntronicSNV - 2/14
9-139406491-G-A NOTCH1 c.2468-768C>T - IntronicSNV - 15/33
6-33547430-G-C BAK1 c.-32+372C>G - intron_variant - 1/5
6-135312723-A-C HBS1L c.957+2173T>G - IntronicSNV - 7/16
2-28769244-G-A PLB1 c.970-2483G>A - IntronicSNV - 14/56
2-133286763-C-G GPR39 c.856+111292C>G - IntronicSNV - 1/1
1-35790407-C-T ZMYM4 c.40-554C>T - IntronicSNV - 1/29
16-31011183-A-G STX1B c.280+1066T>C - IntronicSNV - 4/9
9-4844704-T-C RCL1 c.867+23T>C - IntronicSNV - 7/8
10-88622353-A-T BMPR1A c.1-13423A>T - IntronicSNV - 2/12
18-12028249-G-A IMPA2 c.599+99G>A - IntronicSNV - 6/7
3-30686414-A-T TGFBR2 c.338+7A>T - IntronicSNV - 3/7
4-72264128-A-T SLC4A4 c.675+758A>T - IntronicSNV - 4/22
2-29119585-A-T WDR43 c.225+1796A>T - IntronicSNV - 1/17
16-89721667-T-C CHMP1A c.8-1336A>G - IntronicSNV - 1/6
22-29914337-G-A THOC5 c.1489+658C>T - IntronicSNV - 15/19
22-29914337-G-T THOC5 c.1489+658C>A - IntronicSNV - 15/19
11-61525730-G-A MYRF c.19+2816G>A - IntronicSNV - 1/25
3-69795052-A-G MITF c.104+6200A>G - IntronicSNV - 1/9
1-2069681-C-T PRKCZ c.420+2895C>T - IntronicSNV - 5/17
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
3-195257650-C-G PPP1R2 c.123-948G>C - IntronicSNV - 1/5
11-61622227-T-C FADS2 c.745-2256T>C - IntronicSNV - 5/11
5-145846532-G-A TCERG1 c.1136-2575G>A - IntronicSNV - 5/20
6-135372103-C-A HBS1L c.44-318G>T - IntronicSNV - 1/16
6-135372103-C-T HBS1L c.44-318G>A - IntronicSNV - 1/16
3-195128563-G-A ACAP2 c.54-15687C>T - IntronicSNV - 1/22
16-90026005-C-A DEF8 c.697+442C>A - IntronicSNV - 6/12
16-89967397-A-C TCF25 c.1381+195A>C - IntronicSNV - 12/17
16-90026005-C-G DEF8 c.697+442C>G - IntronicSNV - 6/12
6-31853047-G-A EHMT2 c.2344-254C>T - IntronicSNV - 18/27
17-75395200-T-G SEPT9 c.23-2941T>G - IntronicSNV - 1/10
3-196445776-C-G PIGX c.176+1984C>G - IntronicSNV - 2/5
6-135303356-A-G HBS1L c.1471+240T>C - IntronicSNV - 12/16
4-72358574-A-G SLC4A4 c.1843-4644A>G - IntronicSNV - 12/22
7-27977363-T-C JAZF1 c.189-42328A>G - IntronicSNV - 2/4
16-89805977-G-A FANCA c.3935-16C>T - IntronicSNV - 39/42
16-90034117-A-G DEF8 c.*1746A>G - 3-UTRSNV 13/13 -
7-27975919-G-C JAZF1 c.189-40884C>G - IntronicSNV - 2/4
6-135266941-T-C ALDH8A1 c.139-1837A>G - IntronicSNV - 1/5
5-33712526-G-A ADAMTS12 c.635-28366C>T - IntronicSNV - 3/23
12-131577038-G-A ADGRD1 c.1671+7830G>A - IntronicSNV - 15/24
12-131577038-G-C ADGRD1 c.1671+7830G>C - IntronicSNV - 15/24
3-100133636-G-A LNP1 c.-34+12353G>A - intron_variant - 1/3
6-80210437-A-T LCA5 c.721-6970T>A - IntronicSNV - 4/8
5-33712526-G-T ADAMTS12 c.635-28366C>A - IntronicSNV - 3/23
2-71682791-G-T DYSF c.88+1575G>T - IntronicSNV - 1/54
2-71682791-G-A DYSF c.88+1575G>A - IntronicSNV - 1/54
12-4467921-A-G TIGAR c.*6064A>G - 3-UTRSNV 6/6 -
16-57068866-G-A NLRC5 c.2627+703G>A - IntronicSNV - 12/47
7-105612703-T-C CDHR3 c.47-2587T>C - IntronicSNV - 1/18
16-89930426-A-C SPIRE2 c.1778+157A>C - IntronicSNV - 12/14
16-89976329-G-T TCF25 c.1800-670G>T - IntronicSNV - 16/17
2-39541014-G-C MAP4K3 c.997+1437C>G - IntronicSNV - 13/33
11-75749515-T-C UVRAG c.1226+21491T>C - IntronicSNV - 12/14
16-89930426-A-G SPIRE2 c.1778+157A>G - IntronicSNV - 12/14
14-69873744-T-C SLC39A9 c.96+7562T>C - IntronicSNV - 1/6
2-71577629-G-T ZNF638 c.1317+228G>T - IntronicSNV - 2/27
4-172908433-G-A GALNTL6 c.138+172564G>A - IntronicSNV - 2/12
4-172908433-G-C GALNTL6 c.138+172564G>C - IntronicSNV - 2/12
9-86320041-T-C UBQLN1 c.180+2374A>G - IntronicSNV - 1/10
10-79258850-C-T KCNMA1 c.379-95069G>A - IntronicSNV - 1/26
16-90024866-C-T DEF8 c.556-556C>T - IntronicSNV - 5/12
3-132322624-T-C ACAD11 c.1523-453A>G - IntronicSNV - 12/19
11-61543961-T-C MYRF c.1472+57T>C - IntronicSNV - 10/25
5-145854616-G-A TCERG1 c.1539-3440G>A - IntronicSNV - 8/20
12-66557216-G-C TMBIM4 c.97+6419C>G - IntronicSNV - 1/6
12-66557216-G-A TMBIM4 c.97+6419C>T - IntronicSNV - 1/6
X-72674054-G-T CDX4 c.649-161G>T - IntronicSNV - 2/2
6-135252423-T-C ALDH8A1 c.699+1491A>G - IntronicSNV - 4/5
16-31129895-A-G KAT8 c.211+682A>G - IntronicSNV - 1/10
16-89961597-T-C TCF25 c.928+52T>C - IntronicSNV - 8/17
4-185648489-A-G CENPU c.214+1583T>C - IntronicSNV - 3/12
12-132559918-G-C EP400 c.9022-1143G>C - IntronicSNV - 51/52
7-40888598-G-A SUGCT c.1142-11317G>A - IntronicSNV - 14/14
22-41872224-C-T ACO2 c.36+7038C>T - IntronicSNV - 1/17
16-89975555-G-C TCF25 c.1800-1444G>C - IntronicSNV - 16/17
6-135251063-G-C ALDH8A1 c.700-710C>G - IntronicSNV - 4/5
16-89917775-C-T SPIRE2 c.645+707C>T - IntronicSNV - 3/14
3-196006538-A-T PCYT1A c.-11+3808T>A - intron_variant - 2/9
3-196006538-A-G PCYT1A c.-11+3808T>C - intron_variant - 2/9
1-159272764-C-T FCER1A c.76+100C>T - IntronicSNV - 4/6
8-144918680-C-G NRBP2 c.1264-330G>C - IntronicSNV - 14/17
17-65898809-G-A BPTF c.2922-1096G>A - IntronicSNV - 9/29
20-263845-G-A C20orf96 c.306+759C>T - IntronicSNV - 4/10
8-144918680-C-T NRBP2 c.1264-330G>A - IntronicSNV - 14/17
18-66717643-C-G CCDC102B c.1435-3624C>G - IntronicSNV - 7/7
16-89975911-C-T TCF25 c.1800-1088C>T - IntronicSNV - 16/17
16-89975911-C-G TCF25 c.1800-1088C>G - IntronicSNV - 16/17
17-36994125-C-T C17orf98 c.208-632G>A - IntronicSNV - 1/2
16-89942781-G-A TCF25 c.192+2514G>A - IntronicSNV - 1/17
7-6169741-G-A USP42 c.443-5731G>A - IntronicSNV - 3/17
13-38221582-G-A TRPC4 c.2094+3805C>T - IntronicSNV - 8/10
1-169269741-A-G NME7 c.441-1740T>C - IntronicSNV - 5/11
16-89920383-C-A SPIRE2 c.646-311C>A - IntronicSNV - 3/14
6-31667713-C-T ABHD16A c.244+1006G>A - IntronicSNV - 2/17
3-41490064-G-T ULK4 c.3492+6924C>A - IntronicSNV - 34/36
3-195497809-T-C MUC4 c.13243-567A>G - IntronicSNV - 5/24
1-169269691-G-A NME7 c.441-1690C>T - IntronicSNV - 5/11
11-64628870-A-T EHD1 c.503-1062T>A - IntronicSNV - 2/4
3-195248350-G-A PPP1R2 c.403+2140C>T - IntronicSNV - 4/5
22-45189871-G-A PRR5-ARHGAP8 c.472+7385G>A - intron_variant - 5/14
16-89907164-C-T SPIRE2 c.245-4566C>T - IntronicSNV - 1/14
17-37040586-C-T LASP1 c.165-6087C>T - IntronicSNV - 2/6
17-37040586-C-A LASP1 c.165-6087C>A - IntronicSNV - 2/6
18-44210741-G-T LOXHD1 c.511+8838C>A - IntronicSNV - 4/39
Y-2808518-C-A ZFY c.-29+4708C>A - intron_variant - 1/7
22-34135756-A-G LARGE1 c.106+21602T>C - IntronicSNV - 2/14
22-34135756-A-C LARGE1 c.106+21602T>G - IntronicSNV - 2/14
16-89932931-C-A SPIRE2 c.1779-1666C>A - IntronicSNV - 12/14
6-135263306-C-T ALDH8A1 c.442+241G>A - IntronicSNV - 3/5
5-132073002-A-C KIF3A c.6+104T>G - IntronicSNV - 1/16
11-61570783-T-C FADS1 c.1248+52A>G - IntronicSNV - 9/11
2-112858485-C-T TMEM87B c.1450+213C>T - IntronicSNV - 15/18
11-64819168-G-A NAALADL1 c.1198+1522C>T - IntronicSNV - 8/17
11-64645037-C-T EHD1 c.404+496G>A - IntronicSNV - 1/4
1-36283954-A-G AGO4 c.185+1306A>G - IntronicSNV - 2/17
2-173861450-A-T RAPGEF4 c.1579+168A>T - IntronicSNV - 16/30
22-43044572-G-A CYB5R3 c.21+729C>T - IntronicSNV - 1/8
16-89948397-G-A TCF25 c.193-1362G>A - IntronicSNV - 1/17
17-65870073-C-T BPTF c.1661-860C>T - IntronicSNV - 3/29
7-76844131-G-A CCDC146 c.157-22133G>A - IntronicSNV - 2/18
6-33039899-G-C HLA-DPA1 c.100+1349C>G - IntronicSNV - 1/4
11-32421977-G-A WT1 c.966-387C>T - intron_variant - 4/8
9-86316398-T-C UBQLN1 c.180+6017A>G - IntronicSNV - 1/10
8-32411216-C-T NRG1 c.38-42130C>T - IntronicSNV - 1/11
4-6697766-T-G S100P c.139-854T>G - IntronicSNV - 1/1
17-9387453-C-G STX8 c.541+7693G>C - IntronicSNV - 6/7
7-28187806-C-T JAZF1 c.115+32276G>A - IntronicSNV - 1/4
10-14568967-G-C FAM107B c.653+3364C>G - IntronicSNV - 3/4
3-97642342-C-T CRYBG3 c.8241+7762C>T - IntronicSNV - 17/21
17-30605687-C-T RHBDL3 c.136-5991C>T - IntronicSNV - 2/8
22-29916963-G-A THOC5 c.1277+24C>T - IntronicSNV - 13/19
11-61733765-A-G FTH1 c.115-778T>C - IntronicSNV - 1/3
12-122772514-C-T CLIP1 c.3614+522G>A - IntronicSNV - 20/24
3-188530168-C-G LPP c.1410+52098C>G - IntronicSNV - 8/10
2-170054242-G-A LRP2 c.8579-702C>T - IntronicSNV - 45/78
4-91485388-T-G CCSER1 c.1725-63788T>G - IntronicSNV - 5/10
3-45007675-C-T ZDHHC3 c.1-6747G>A - IntronicSNV - 1/7
3-195262779-G-A PPP1R2 c.123-6077C>T - IntronicSNV - 1/5
11-61571348-C-G FADS1 c.1054-109G>C - IntronicSNV - 7/11
10-14585328-T-C FAM107B c.470-12814A>G - IntronicSNV - 2/4
7-5460550-C-T TNRC18 c.187+141G>A - IntronicSNV - 2/29
15-57766326-C-G CGNL1 c.2403+12236C>G - IntronicSNV - 8/18
7-8788243-A-G NXPH1 c.55-2395A>G - IntronicSNV - 2/2
7-101537499-G-A CUX1 c.64-21896G>A - IntronicSNV - 1/22
7-8788243-A-T NXPH1 c.55-2395A>T - IntronicSNV - 2/2
14-95665857-C-T CLMN c.2512-2826G>A - IntronicSNV - 9/12
3-195153124-C-T ACAP2 c.53+10400G>A - IntronicSNV - 1/22
11-61548559-A-G MYRF c.2467+42A>G - IntronicSNV - 19/25
4-141562075-G-A TBC1D9 c.2338-1493C>T - IntronicSNV - 13/20
5-146832485-C-T DPYSL3 c.39+627G>A - IntronicSNV - 1/13
19-1207238-G-T STK11 c.290+36G>T - IntronicSNV - 1/9
19-34682013-A-G LSM14A c.122-3370A>G - IntronicSNV - 1/9
11-61539691-G-A MYRF c.1088+267G>A - IntronicSNV - 7/25
6-111316362-C-T RPF2 c.235-2024C>T - IntronicSNV - 4/9
18-60233646-G-A ZCCHC2 c.1846+1317G>A - IntronicSNV - 11/13
10-98070849-C-T DNTT c.203+6392C>T - IntronicSNV - 1/10
20-37517207-G-A PPP1R16B c.251-1031G>A - IntronicSNV - 2/10
6-30889816-G-T VARS2 c.1806+44G>T - IntronicSNV - 19/29
16-89963163-T-C TCF25 c.1022+672T>C - IntronicSNV - 9/17
6-33047466-T-C HLA-DPB1 c.101-983T>C - IntronicSNV - 1/5
13-30112971-C-T SLC7A1 c.1-2646G>A - IntronicSNV - 2/12
8-11588439-A-T GATA4 c.617-17989A>T - IntronicSNV - 2/6
16-89945369-G-T TCF25 c.193-4390G>T - IntronicSNV - 1/17
16-89947203-G-A TCF25 c.193-2556G>A - IntronicSNV - 1/17
16-89945369-G-C TCF25 c.193-4390G>C - IntronicSNV - 1/17
16-89945369-G-A TCF25 c.193-4390G>A - IntronicSNV - 1/17
8-32476837-C-T NRG1 c.388+4755C>T - IntronicSNV - 4/11
16-89969603-T-C TCF25 c.1382-923T>C - IntronicSNV - 12/17
11-46923168-C-T LRP4 c.199+1166G>A - IntronicSNV - 2/37
19-46180457-C-T GIPR c.793+91C>T - IntronicSNV - 8/13
7-134469906-G-C CALD1 c.-130+5406G>C - intron_variant - 1/14
20-18407370-G-A DZANK1 c.954+341C>T - IntronicSNV - 10/20
4-141561714-G-A TBC1D9 c.2338-1132C>T - IntronicSNV - 13/20
4-141561714-G-T TBC1D9 c.2338-1132C>A - IntronicSNV - 13/20
3-195122930-T-G ACAP2 c.54-10054A>C - IntronicSNV - 1/22
1-234247340-T-C SLC35F3 c.284-119823T>C - IntronicSNV - 2/7
17-65944515-A-C BPTF c.7875+93A>C - IntronicSNV - 25/29
6-135342056-T-G HBS1L c.305-18076A>C - IntronicSNV - 3/16
6-135342056-T-C HBS1L c.305-18076A>G - IntronicSNV - 3/16
6-170858520-A-C PSMB1 c.114-319T>G - IntronicSNV - 1/5
2-214976563-A-T SPAG16 c.1593+3578A>T - IntronicSNV - 14/15
9-4849647-T-C RCL1 c.971+97T>C - IntronicSNV - 8/8
5-78733242-A-C HOMER1 c.527+1591T>G - IntronicSNV - 5/8
4-140696130-C-T MAML3 c.2080-44309G>A - IntronicSNV - 2/4
1-21051430-C-A SH2D5 c.391-302G>T - IntronicSNV - 5/9
5-79476737-T-A SERINC5 c.196-2851A>T - IntronicSNV - 2/12
6-170597305-C-T DLL1 c.670+22G>A - IntronicSNV - 4/10
11-44843134-A-C TSPAN18 c.-152-38745A>C - intron_variant - 2/9
11-44843134-A-G TSPAN18 c.-152-38745A>G - intron_variant - 2/9
9-34107505-C-T DCAF12 c.392G>A p.Arg131Gln Missense 3/9 -
4-155361274-C-T DCHS2 c.2052+49182G>A - IntronicSNV - 1/7
X-69149937-G-A EDA c.397-26940G>A - IntronicSNV - 1/7
6-35005084-A-C ANKS1A c.2011-16792A>C - IntronicSNV - 11/23
1-169162862-A-T NME7 c.991-24070T>A - IntronicSNV - 10/11
1-169162862-A-G NME7 c.991-24070T>C - IntronicSNV - 10/11
22-34131736-G-A LARGE1 c.106+25622C>T - IntronicSNV - 2/14
11-100900978-C-A PGR c.*8869G>T - 3-UTRSNV 8/8 -
4-101436201-A-G EMCN c.64+2807T>C - IntronicSNV - 1/11
1-23131979-C-T EPHB2 c.811+20410C>T - IntronicSNV - 3/15
15-52567523-T-C MYO5C c.606+236A>G - IntronicSNV - 5/40
6-33541719-A-G BAK1 c.532-35T>C - IntronicSNV - 5/5
6-170597305-C-G DLL1 c.670+22G>C - IntronicSNV - 4/10
11-113265999-G-A ANKK1 c.633-82G>A - IntronicSNV - 3/7
1-18579038-C-A IGSF21 c.183+24534C>A - IntronicSNV - 2/9
11-61618608-A-G FADS2 c.744+2852A>G - IntronicSNV - 5/11
5-22651718-A-G CDH12 c.-522-146245T>C - intron_variant - 1/14
20-62373079-G-T SLC2A4RG c.392-143G>T - IntronicSNV - 3/7
20-62373079-G-C SLC2A4RG c.392-143G>C - IntronicSNV - 3/7
20-31039688-A-G NOL4L c.1090+351T>C - IntronicSNV - 7/7
2-113419738-C-G SLC20A1 c.1879-703C>G - IntronicSNV - 10/10
4-72396727-G-T SLC4A4 c.2035-1052G>T - IntronicSNV - 13/22
4-72396727-G-A SLC4A4 c.2035-1052G>A - IntronicSNV - 13/22
1-245659114-A-G KIF26B c.1167-44955A>G - IntronicSNV - 4/14
7-151510459-C-T PRKAG2 c.115-26832G>A - IntronicSNV - 1/15
14-105995534-G-A TMEM121 c.363G>A p.Val121Val Synonymous 2/2 -
3-196006997-C-T PCYT1A c.-11+3349G>A - intron_variant - 2/9
20-37564384-G-A FAM83D c.484-6218G>A - intron_variant - 1/3
9-8728435-T-A PTPRD c.64+5345A>T - IntronicSNV - 1/29
4-175175243-G-C FBXO8 c.456+5607C>G - IntronicSNV - 3/5
1-151497140-T-C CGN c.1402-10T>C - IntronicSNV - 7/20
16-90024899-T-A DEF8 c.556-523T>A - IntronicSNV - 5/12
1-36275112-G-A AGO4 c.19+1076G>A - IntronicSNV - 1/17
6-135369692-G-A HBS1L c.109+2028C>T - IntronicSNV - 2/16
4-72259181-G-A SLC4A4 c.599-4113G>A - IntronicSNV - 3/22
7-144205905-C-T TPK1 c.613+39679G>A - IntronicSNV - 8/8
4-72359084-C-G SLC4A4 c.1843-4134C>G - IntronicSNV - 12/22
16-89965842-C-T TCF25 c.1221+562C>T - IntronicSNV - 11/17
11-61621194-G-A FADS2 c.745-3289G>A - IntronicSNV - 5/11
12-112546345-G-C NAA25 c.58+175C>G - IntronicSNV - 1/23
4-72359084-C-T SLC4A4 c.1843-4134C>T - IntronicSNV - 12/22
13-38163262-A-G POSTN c.442-1139T>C - IntronicSNV - 4/22
16-89973071-G-T TCF25 c.1719+379G>T - IntronicSNV - 15/17
3-41490130-T-C ULK4 c.3492+6858A>G - IntronicSNV - 34/36
17-3496226-C-G TRPV1 c.1-582G>C - IntronicSNV - 1/15
3-169260950-A-G MECOM c.37+120174T>C - IntronicSNV - 1/16
1-169264916-T-G NME7 c.648+2878A>C - IntronicSNV - 6/11
14-105993254-T-A TMEM121 c.-114+264T>A - intron_variant - 1/1
6-135354094-G-C HBS1L c.304+6617C>G - IntronicSNV - 3/16
4-185647107-G-C CENPU c.215-891C>G - IntronicSNV - 3/12
3-132052808-A-G ACPP c.456+1620A>G - IntronicSNV - 4/9
9-125811122-A-G RABGAP1 c.1795-16505A>G - IntronicSNV - 13/25
22-40074662-G-A CACNA1I c.4951-450G>A - IntronicSNV - 30/35
5-160121376-C-T ATP10B c.1-6295G>A - IntronicSNV - 3/25
5-160121376-C-A ATP10B c.1-6295G>T - IntronicSNV - 3/25
17-9359776-T-C STX8 c.541+35370A>G - IntronicSNV - 6/7
17-9359776-T-A STX8 c.541+35370A>T - IntronicSNV - 6/7
15-87298505-A-C AGBL1 c.3221+80838A>C - intron_variant - 23/24
4-76577860-C-T G3BP2 c.825+1307G>A - IntronicSNV - 8/11
13-72371846-C-T DACH1 c.854+68208G>A - IntronicSNV - 1/6
3-32321726-G-A CMTM8 c.147+41115G>A - IntronicSNV - 1/3
3-32321726-G-C CMTM8 c.147+41115G>C - IntronicSNV - 1/3
1-90298305-C-T LRRC8D c.-148+10561C>T - intron_variant - 1/2
14-51114717-T-C SAV1 c.536-2985A>G - IntronicSNV - 2/4
11-61551356-T-G MYRF c.3033T>G p.Ser1011Arg Missense 23/26 -
11-61551356-T-A MYRF c.3033T>A p.Ser1011Arg Missense 23/26 -
16-89973071-G-A TCF25 c.1719+379G>A - IntronicSNV - 15/17
3-196438826-G-T CEP19 c.-97C>A - 5_prime_UTR_variant 1/3 -
3-41490130-T-A ULK4 c.3492+6858A>T - IntronicSNV - 34/36
16-90029105-G-C DEF8 c.1104+572G>C - IntronicSNV - 9/12
15-28213924-T-C OCA2 c.1504-1956A>G - IntronicSNV - 14/23
16-89906800-G-A SPIRE2 c.245-4930G>A - IntronicSNV - 1/14
20-19978872-C-A RIN2 c.2511+1386C>A - IntronicSNV - 11/11
20-19978872-C-T RIN2 c.2511+1386C>T - IntronicSNV - 11/11
14-74575071-C-T LIN52 c.283+7130C>T - intron_variant - 5/5
1-232615792-G-A SIPA1L2 c.1982-316C>T - IntronicSNV - 4/20
16-89961957-C-T TCF25 c.928+412C>T - IntronicSNV - 8/17
16-89940536-G-T TCF25 c.192+269G>T - IntronicSNV - 1/17
12-2562404-G-C CACNA1C c.617+4123G>C - IntronicSNV - 4/46
12-2562404-G-A CACNA1C c.617+4123G>A - IntronicSNV - 4/46
2-121620828-G-A GLI2 c.149-64109G>A - IntronicSNV - 2/13
16-89967397-A-G TCF25 c.1381+195A>G - IntronicSNV - 12/17
3-154802920-T-C MME c.196+37T>C - IntronicSNV - 3/22
16-89992072-G-T TUBB3 c.57+2206G>T - IntronicSNV - 1/3
1-113982627-T-G MAGI3 c.316+48656T>G - IntronicSNV - 1/20
11-64638041-C-T EHD1 c.502+3852G>A - IntronicSNV - 2/4
11-64638041-C-A EHD1 c.502+3852G>T - IntronicSNV - 2/4
16-89900195-G-A SPIRE2 c.244+4993G>A - IntronicSNV - 1/14
20-25240189-G-A PYGB c.345+215G>A - IntronicSNV - 2/19
21-46932383-G-A COL18A1 c.*71G>A - 3-UTRSNV 41/41 -
20-25240189-G-T PYGB c.345+215G>T - IntronicSNV - 2/19
20-30872803-C-T KIF3B c.-66+7235C>T - intron_variant - 1/8
17-3829613-G-A ATP2A3 c.3140-878C>T - IntronicSNV - 22/22
21-46932383-G-T COL18A1 c.*71G>T - 3-UTRSNV 41/41 -
11-61614595-G-T FADS2 c.619-1036G>T - IntronicSNV - 4/11
11-61614595-G-A FADS2 c.619-1036G>A - IntronicSNV - 4/11
12-132419533-C-T PUS1 c.441+2676C>T - IntronicSNV - 3/5
3-71726270-T-C EIF4E3 c.*7563A>G - IntergenicSNV 8/8 -
10-98168379-G-A TLL2 c.1164+1737C>T - IntronicSNV - 9/20
19-13337170-T-C CACNA1A c.5643+1075A>G - IntronicSNV - 38/47
16-89957815-A-G TCF25 c.615-786A>G - IntronicSNV - 5/17
3-123033693-C-T ADCY5 c.2355-524G>A - IntronicSNV - 11/20
13-26529288-A-G ATP8A2 c.3184-6425A>G - IntronicSNV - 33/36
7-76844183-G-A CCDC146 c.157-22081G>A - IntronicSNV - 2/18
6-30073195-A-C TRIM31 c.884-176T>G - IntronicSNV - 6/8
1-27153958-G-C ZDHHC18 c.335+328G>C - IntronicSNV - 1/7
1-75598070-C-T LHX8 c.18+1653C>T - IntronicSNV - 2/9
5-82604046-G-A XRCC4 c.894-44904G>A - IntronicSNV - 7/7
3-13866802-C-T WNT7A c.571-5882G>A - IntronicSNV - 3/3
20-62373079-G-A SLC2A4RG c.392-143G>A - IntronicSNV - 3/7
11-61624181-T-C FADS2 c.745-302T>C - IntronicSNV - 5/11
2-209042853-T-C C2orf80 c.366+2616A>G - IntronicSNV - 6/8
10-50008287-G-T WDFY4 c.4411-3044G>T - IntronicSNV - 24/61
2-73300974-T-C RAB11FIP5 c.*1675A>G - 3-UTRSNV 5/5 -
18-34185191-A-G FHOD3 c.813+2460A>G - IntronicSNV - 8/24
16-89954651-C-G TCF25 c.614+526C>G - IntronicSNV - 5/17
16-89906937-T-C SPIRE2 c.245-4793T>C - IntronicSNV - 1/14
16-89906937-T-A SPIRE2 c.245-4793T>A - IntronicSNV - 1/14
1-232079019-A-G DISC1 c.1982-15555A>G - IntronicSNV - 9/12
11-61581656-G-A FADS1 c.376-831C>T - IntronicSNV - 1/11
17-77133715-G-T RBFOX3 c.1-21918C>A - IntronicSNV - 4/14
17-77133715-G-A RBFOX3 c.1-21918C>T - IntronicSNV - 4/14
2-120250271-C-T SCTR c.193+1733G>A - IntronicSNV - 2/12
10-50008287-G-A WDFY4 c.4411-3044G>A - IntronicSNV - 24/61
1-95506188-C-A ALG14 c.289-13372G>T - IntronicSNV - 2/3
1-155505967-G-A ASH1L c.1-14657C>T - IntronicSNV - 1/27
2-170201843-G-A LRP2 c.79+16988C>T - IntronicSNV - 1/78
16-89826342-C-T FANCA c.2853-1229G>A - IntronicSNV - 29/42
19-46172278-G-A GIPR c.1-501G>A - IntronicSNV - 1/13
16-89912000-C-T SPIRE2 c.288+227C>T - IntronicSNV - 2/14
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
20-62333115-G-T ARFRP1 c.417+67C>A - IntronicSNV - 6/6
20-62333115-G-C ARFRP1 c.417+67C>G - IntronicSNV - 6/6
5-128331222-A-G SLC27A6 c.969+5065A>G - IntronicSNV - 5/10
17-4379953-C-T SPNS3 c.1114-1914C>T - IntronicSNV - 8/11
16-89948985-A-G TCF25 c.193-774A>G - IntronicSNV - 1/17
11-131904225-G-A NTM c.168-111951G>A - IntronicSNV - 1/6
6-26184102-G-A HIST1H2BE c.79G>A p.Gly27Ser Missense 1/1 -
3-196931821-T-C DLG1 c.319-10361A>G - IntronicSNV - 4/25
20-24973005-C-T APMAP c.95+225G>A - IntronicSNV - 1/8
2-71355511-G-A MCEE c.40+1799C>T - IntronicSNV - 1/2
4-1304277-G-A MAEA c.70-1490G>A - IntronicSNV - 1/7
6-135263557-C-T ALDH8A1 c.432G>A p.Pro144Pro Synonymous 3/6 -
17-73774841-G-A H3F3B c.283-37C>T - IntronicSNV - 3/3
16-89932931-C-G SPIRE2 c.1779-1666C>G - IntronicSNV - 12/14
17-73774841-G-C H3F3B c.283-37C>G - IntronicSNV - 3/3
6-135268196-A-G ALDH8A1 c.138+2858T>C - IntronicSNV - 1/5
3-40576048-A-G ZNF621 c.*1467A>G - 3-UTRSNV 5/5 -
9-86319690-G-A UBQLN1 c.180+2725C>T - IntronicSNV - 1/10
9-26936515-C-A PLAA c.150-1311G>T - IntronicSNV - 1/13
3-127979112-A-G EEFSEC c.525-1859A>G - IntronicSNV - 2/6
9-4845520-A-C RCL1 c.867+839A>C - IntronicSNV - 7/8
8-104454946-G-A DCAF13 c.1251-77G>A - intron_variant - 10/10
6-144996435-A-G UTRN c.7480-3107A>G - IntronicSNV - 50/73
1-8928811-C-T ENO1 c.241-695G>A - IntronicSNV - 4/11
16-89976224-G-A TCF25 c.1800-775G>A - IntronicSNV - 16/17
4-141553791-G-A TBC1D9 c.2746+1311C>T - IntronicSNV - 16/20
4-111026927-C-T ELOVL6 c.90-143G>A - IntronicSNV - 1/3
1-8485904-T-C RERE c.1204-3037A>G - IntronicSNV - 11/22
3-169276415-C-T MECOM c.37+104709G>A - IntronicSNV - 1/16
11-46900659-G-A LRP4 c.3004+18C>T - IntronicSNV - 21/37
19-54784504-C-T LILRB2 c.1-153G>A - IntronicSNV 1/14 -
16-89995088-G-C TUBB3 c.58-3891G>C - IntronicSNV - 1/3
9-139789556-A-C TRAF2 c.1-3637A>C - IntronicSNV - 1/10
8-31921915-T-C NRG1 c.37+424968T>C - IntronicSNV - 1/11
1-79094081-T-A IFI44L c.478+3T>A - IntronicSNV - 2/8
6-135344378-C-T HBS1L c.304+16333G>A - IntronicSNV - 3/16
1-55225089-C-T PARS2 c.1-255G>A - IntronicSNV - 1/1
2-37152138-G-A STRN c.338+110C>T - IntronicSNV - 2/17
22-34144823-A-G LARGE1 c.106+12535T>C - IntronicSNV - 2/14
17-3474660-G-A TRPV1 c.2347+158C>T - IntronicSNV - 15/15
3-127898606-G-A EEFSEC c.316+25940G>A - IntronicSNV - 1/6
3-19996807-G-T RAB5A c.163+4254G>T - IntronicSNV - 2/5
3-188405985-C-T LPP c.1114-20070C>T - IntronicSNV - 6/10
16-89965055-G-C TCF25 c.1113G>C p.Leu371Leu Synonymous 10/18 -
16-89950299-G-C TCF25 c.354+379G>C - IntronicSNV - 2/17
16-89965055-G-A TCF25 c.1113G>A p.Leu371Leu Synonymous 10/18 -
16-88770010-G-A RNF166 c.156-2184C>T - IntronicSNV - 1/5
1-16381816-C-T CLCNKB c.1757-114C>T - IntronicSNV - 16/19
16-89965825-G-C TCF25 c.1221+545G>C - IntronicSNV - 11/17
15-26890848-C-T GABRB3 c.241-24167G>A - IntronicSNV - 3/8
15-26890848-C-A GABRB3 c.241-24167G>T - IntronicSNV - 3/8
13-100621776-G-C ZIC5 c.1549+605C>G - IntronicSNV - 1/1
13-72435105-C-T DACH1 c.854+4949G>A - IntronicSNV - 1/6
13-72435105-C-A DACH1 c.854+4949G>T - IntronicSNV - 1/6
19-12638887-T-C ZNF564 c.192-157A>G - IntronicSNV - 3/3
16-89972416-C-A TCF25 c.1629-186C>A - IntronicSNV - 14/17
15-31901313-A-C OTUD7A c.152-38913T>G - IntronicSNV - 4/13
11-12284068-C-T MICAL2 c.*1C>T - 3-UTRSNV - 27/27
13-111856885-G-A ARHGEF7 c.316-751G>A - IntronicSNV - 3/19
12-125449798-C-T DHX37 c.1736-246G>A - IntronicSNV - 13/26
15-52536273-G-A MYO5C c.2390+280C>T - IntronicSNV - 19/40
7-104858809-G-A SRPK2 c.39-14577C>T - IntronicSNV - 1/14
X-71695388-C-G HDAC8 c.738-10807G>C - IntronicSNV - 7/10
6-135268272-A-G ALDH8A1 c.138+2782T>C - IntronicSNV - 1/5
5-156893422-G-A NIPAL4 c.464-635G>A - IntronicSNV - 2/5
20-24973005-C-G APMAP c.95+225G>C - IntronicSNV - 1/8
4-3529671-C-A LRPAP1 c.205-2893G>T - IntronicSNV - 1/7
9-86242383-C-A IDNK c.51-713C>A - IntronicSNV - 1/4
9-86242383-C-G IDNK c.51-713C>G - IntronicSNV - 1/4
7-150651816-G-A KCNH2 c.1129-1875C>T - IntronicSNV - 5/14
X-10157009-G-A CLCN4 c.1-5980G>A - IntronicSNV - 2/10
X-10157009-G-C CLCN4 c.1-5980G>C - IntronicSNV - 2/10
11-61719026-G-A BEST1 c.1-253G>A - IntronicSNV - 1/10
12-122675576-C-T LRRC43 c.347-351C>T - IntronicSNV - 5/11
11-61575158-A-G FADS1 c.916-962T>C - IntronicSNV - 5/11
11-61575158-A-T FADS1 c.916-962T>A - IntronicSNV - 5/11
1-1559418-G-A MIB2 c.593+93G>A - intron_variant - 4/19
22-34131153-C-T LARGE1 c.106+26205G>A - IntronicSNV - 2/14
11-32455853-G-T WT1 c.661+393C>A - intron_variant - 1/8
12-132381696-C-T ULK1 c.246+1327C>T - IntronicSNV - 3/27
12-112546345-G-A NAA25 c.58+175C>T - IntronicSNV - 1/23
3-132432857-T-C NPHP3 c.958-727A>G - IntronicSNV - 5/26
6-136247274-C-G PDE7B c.22-21328C>G - IntronicSNV - 1/12
10-47664113-C-T ANTXRL c.320+748C>T - IntronicSNV - 2/16
22-30038152-A-C NF2 c.364-39A>C - IntronicSNV - 3/15
9-8729288-C-T PTPRD c.64+4492G>A - IntronicSNV - 1/29
8-144563803-G-A ZC3H3 c.1716-6048C>T - IntronicSNV - 4/11
16-89896834-G-A SPIRE2 c.244+1632G>A - IntronicSNV - 1/14
12-125308963-C-T SCARB1 c.127-6710G>A - IntronicSNV - 1/12
1-22447316-A-G WNT4 c.589-306T>C - IntronicSNV - 4/4
5-58337549-C-T PDE4D c.809-2751G>A - IntronicSNV - 5/14
16-82848208-A-G CDH13 c.46-43759A>G - IntronicSNV - 1/13
20-20048908-A-C CFAP61 c.144-2590A>C - IntronicSNV - 2/26
20-742716-A-C SLC52A3 c.1074-248T>G - IntronicSNV - 3/4
3-71726259-T-C EIF4E3 c.*7574A>G - IntergenicSNV 8/8 -
7-120058853-C-A KCND2 c.1115+143052C>A - IntronicSNV - 1/5
1-232079048-T-C DISC1 c.1982-15526T>C - IntronicSNV - 9/12
11-122587016-G-A UBASH3B c.162-59911G>A - IntronicSNV - 1/13
2-39541014-G-A MAP4K3 c.997+1437C>T - IntronicSNV - 13/33
17-73091029-G-A SLC16A5 c.199+1099G>A - IntronicSNV - 3/6
4-143461480-T-C INPP4B c.-289-72272A>G - intron_variant - 2/26
4-3526786-C-G LRPAP1 c.205-8G>C - IntronicSNV - 1/7
2-29122001-G-T WDR43 c.226-2852G>T - IntronicSNV - 1/17
4-3526786-C-T LRPAP1 c.205-8G>A - IntronicSNV - 1/7
9-26942825-C-T PLAA c.149+4070G>A - IntronicSNV - 1/13
22-29903207-C-T THOC5 c.*1239G>A - IntergenicSNV 20/20 -
22-29903207-C-G THOC5 c.*1239G>C - IntergenicSNV 20/20 -
20-60338514-C-T CDH4 c.397-9545C>T - IntronicSNV - 3/15
16-89713563-C-G CHMP1A c.381+48G>C - IntronicSNV - 5/6
6-135371148-C-T HBS1L c.109+572G>A - IntronicSNV - 2/16
6-135358916-G-A HBS1L c.304+1795C>T - IntronicSNV - 3/16
2-97452416-C-T CNNM4 c.1403-10333C>T - IntronicSNV - 1/6
4-72352039-C-T SLC4A4 c.1772-626C>T - IntronicSNV - 11/22
5-172447762-G-A ATP6V0E1 c.*428G>A - IntronicSNV - 3/3
6-38689430-A-G DNAH8 c.1-1156A>G - IntronicSNV - 1/92
12-4467921-A-T TIGAR c.*6064A>T - 3-UTRSNV 6/6 -
8-106708044-A-G ZFPM2 c.532+61459A>G - IntronicSNV - 5/7
12-4467921-A-C TIGAR c.*6064A>C - 3-UTRSNV 6/6 -
7-89858750-C-T STEAP2 c.1021-436C>T - IntronicSNV - 3/4
16-89930129-G-T SPIRE2 c.1711-73G>T - IntronicSNV - 11/14
16-89930129-G-C SPIRE2 c.1711-73G>C - IntronicSNV - 11/14
22-42280135-G-A SREBF2 c.2039-711G>A - IntronicSNV - 10/18
6-135360046-C-T HBS1L c.304+665G>A - IntronicSNV - 3/16
17-72957007-A-T HID1 c.729-664T>A - IntronicSNV - 6/18
2-73271315-C-T SFXN5 c.172-3255G>A - IntronicSNV - 2/13
9-95370321-G-A CENPP c.565-3275G>A - IntronicSNV - 5/7
6-31667713-C-A ABHD16A c.244+1006G>T - IntronicSNV - 2/17
17-72957007-A-C HID1 c.729-664T>G - IntronicSNV - 6/18
4-72340431-A-G SLC4A4 c.1771+1744A>G - IntronicSNV - 11/22
8-86358107-G-T CA3 c.508-264G>T - IntronicSNV - 5/6
2-29140711-G-A WDR43 c.747-48G>A - IntronicSNV - 5/17
14-94424289-A-C ASB2 c.207-1073T>G - IntronicSNV - 2/9
2-64368896-C-T PELI1 c.-70+2319G>A - intron_variant - 1/6
2-23726720-G-A KLHL29 c.-46+28183G>A - intron_variant - 2/13
6-29911005-G-A HLA-A c.344-40G>A - IntronicSNV - 2/7
6-29910865-C-G HLA-A c.343+62C>G - IntronicSNV - 2/7
2-23726720-G-T KLHL29 c.-46+28183G>T - intron_variant - 2/13
16-89975638-A-G TCF25 c.1800-1361A>G - IntronicSNV - 16/17
4-72382775-T-A SLC4A4 c.2035-15004T>A - IntronicSNV - 13/22
11-61513400-G-A DAGLA c.*1439G>A - 3-UTRSNV 20/20 -
7-150658199-T-C KCNH2 c.308-1375A>G - IntronicSNV - 2/14
4-72382775-T-C SLC4A4 c.2035-15004T>C - IntronicSNV - 13/22
5-167726313-C-G WWC1 c.119+7037C>G - IntronicSNV - 1/22
6-135249046-G-C ALDH8A1 c.861+1146C>G - IntronicSNV - 5/5
16-85836256-T-C COX4I1 c.73+1372T>C - IntronicSNV - 2/4
2-36776555-G-T CRIM1 c.*711G>T - 3-UTRSNV 17/17 -
1-155407096-C-T ASH1L c.5828+1022G>A - IntronicSNV - 5/27
1-36276399-C-T AGO4 c.19+2363C>T - IntronicSNV - 1/17
1-180167644-T-C QSOX1 c.*1472T>C - IntergenicSNV 12/12 -
1-16381792-T-A CLCNKB c.1757-138T>A - IntronicSNV - 16/19
11-61605499-T-A FADS2 c.318+139T>A - IntronicSNV - 2/11
7-105612901-A-G CDHR3 c.47-2389A>G - IntronicSNV - 1/18
6-135354094-G-T HBS1L c.304+6617C>A - IntronicSNV - 3/16
11-131878375-G-A NTM c.167+96833G>A - IntronicSNV - 1/6
1-204847915-G-A NFASC c.-199-41845G>A - intron_variant - 1/29
16-89899055-T-C SPIRE2 c.244+3853T>C - IntronicSNV - 1/14
5-58333316-G-A PDE4D c.921+1370C>T - IntronicSNV - 6/14
10-28388150-G-A MPP7 c.953-9380C>T - IntronicSNV - 13/18
1-218582778-T-C TGFB2 c.510+4104T>C - IntronicSNV - 2/6
9-4856877-G-A RCL1 c.972-3248G>A - IntronicSNV - 8/8
11-61569306-C-A FADS1 c.*577G>T - 3-UTRSNV 12/12 -
14-105993254-T-C TMEM121 c.-114+264T>C - intron_variant - 1/1
3-128182444-C-T DNAJB8 c.1-356G>A - 5-UTRSNV 3/3 -
1-36820168-C-T STK40 c.571-151G>A - IntronicSNV - 6/11
2-71689050-C-A DYSF c.88+7834C>A - IntronicSNV - 1/54
17-73122167-T-C ARMC7 c.236-2605T>C - IntronicSNV - 2/2
1-11862214-T-C MTHFR c.236+724A>G - IntronicSNV - 2/11
6-135290923-A-G HBS1L c.1672-447T>C - IntronicSNV - 14/16
20-62372956-C-T SLC2A4RG c.391+124C>T - IntronicSNV - 3/7
22-43306694-T-C PACSIN2 c.60+1333A>G - IntronicSNV - 2/10
6-132690825-A-G MOXD1 c.663+2922T>C - IntronicSNV - 4/11
4-3522683-C-T LRPAP1 c.350-763G>A - IntronicSNV - 2/7
11-20647952-C-G SLC6A5 c.1261-302C>G - IntronicSNV - 7/15
11-61557803-T-C TMEM258 c.113+162A>G - IntronicSNV - 2/3
11-20647952-C-T SLC6A5 c.1261-302C>T - IntronicSNV - 7/15
11-20647952-C-A SLC6A5 c.1261-302C>A - IntronicSNV - 7/15
6-148707649-C-T SASH1 c.157-3621C>T - IntronicSNV - 1/19
11-61603237-C-T FADS2 c.208-2013C>T - IntronicSNV - 1/11
3-120126602-A-G FSTL1 c.462+1777T>C - IntronicSNV - 6/10
10-97414303-C-T ALDH18A1 c.1-1169G>A - IntronicSNV - 1/17
12-111892685-T-C ATXN2 c.3265-1036A>G - intron_variant - 23/24
12-112254941-C-T ALDH2 c.*7562C>T - IntergenicSNV 13/13 -
3-9252998-C-T SRGAP3 c.67+37571G>A - IntronicSNV - 1/21
12-119790114-G-A CCDC60 c.90+17043G>A - IntronicSNV - 1/13
6-135312723-A-G HBS1L c.957+2173T>C - IntronicSNV - 7/16
4-16705698-T-C LDB2 c.235+55083A>G - IntronicSNV - 2/8
16-89900495-C-T SPIRE2 c.244+5293C>T - IntronicSNV - 1/14
4-72380633-T-C SLC4A4 c.2035-17146T>C - IntronicSNV - 13/22
16-89959647-A-G TCF25 c.698-489A>G - IntronicSNV - 6/17
7-6169741-G-T USP42 c.443-5731G>T - IntronicSNV - 3/17
16-89932931-C-T SPIRE2 c.1779-1666C>T - IntronicSNV - 12/14
11-44762899-T-G TSPAN18 c.-240+14062T>G - intron_variant - 1/9
5-58333808-C-T PDE4D c.921+878G>A - IntronicSNV - 6/14
6-135314283-C-T HBS1L c.957+613G>A - IntronicSNV - 7/16
3-195266554-A-C PPP1R2 c.122+3173T>G - IntronicSNV - 1/5
10-7346152-T-C SFMBT2 c.437-18236A>G - IntronicSNV - 4/20
9-77149837-A-G RORB c.7+36938A>G - IntronicSNV - 1/9
3-3203504-A-G CRBN c.688-5539T>C - IntronicSNV - 5/10
7-137342116-C-T DGKI c.607-830G>A - IntronicSNV - 3/33
9-5232409-G-C INSL4 c.196+690G>C - IntronicSNV - 1/1
21-43362204-T-C C2CD2 c.378+52A>G - IntronicSNV - 2/13
11-61603510-C-T FADS2 c.208-1740C>T - IntronicSNV - 1/11
11-61603510-C-A FADS2 c.208-1740C>A - IntronicSNV - 1/11
16-89993206-A-G TUBB3 c.57+3340A>G - IntronicSNV - 1/3
14-105844400-C-G PACS2 c.959+1138C>G - IntronicSNV - 9/24
1-35739901-G-C ZMYM4 c.39+5215G>C - IntronicSNV - 1/29
9-4855858-A-C RCL1 c.972-4267A>C - IntronicSNV - 8/8
17-36975042-C-T CWC25 c.191+2112G>A - IntronicSNV - 2/9
6-159619866-G-A FNDC1 c.305-1162G>A - IntronicSNV - 2/22
2-71647740-G-C ZNF638 c.3299+1971G>C - IntronicSNV - 21/27
10-33528887-G-A NRP1 c.982-13670C>T - IntronicSNV - 6/11
2-73335844-G-C RAB11FIP5 c.431+3631C>G - IntronicSNV - 1/4
9-132939792-G-A NCS1 c.64+4786G>A - IntronicSNV - 1/7
15-86725296-T-C AGBL1 c.488+23039T>C - intron_variant - 5/24
1-8640831-G-C RERE c.523-23249C>G - IntronicSNV - 4/22
9-132939792-G-C NCS1 c.64+4786G>C - IntronicSNV - 1/7
6-33547440-G-C BAK1 c.-32+362C>G - intron_variant - 1/5
20-40888123-C-T PTPRT c.2177-10661G>A - IntronicSNV - 13/30
12-32846930-T-C DNM1L c.103-7419T>C - IntronicSNV - 1/19
10-79272764-C-T KCNMA1 c.379-108983G>A - IntronicSNV - 1/26
9-139260463-C-T CARD9 c.1357+789G>A - IntronicSNV - 10/12
2-170201439-C-G LRP2 c.79+17392G>C - IntronicSNV - 1/78
11-44749634-T-G TSPAN18 c.-240+797T>G - intron_variant - 1/9
5-58333160-A-C PDE4D c.921+1526T>G - IntronicSNV - 6/14
10-50820693-G-T SLC18A3 c.*308G>T - 3-UTRSNV 1/1 -
5-156926983-C-T ADAM19 c.1309-313G>A - IntronicSNV - 12/22
10-47680481-G-T ANTXRL c.1134+43G>T - IntronicSNV - 13/16
2-170204846-C-T LRP2 c.79+13985G>A - IntronicSNV - 1/78
10-47680481-G-A ANTXRL c.1134+43G>A - IntronicSNV - 13/16
10-25791510-G-A GPR158 c.1404+35862G>A - IntronicSNV - 5/10
16-89901767-G-A SPIRE2 c.244+6565G>A - IntronicSNV - 1/14
20-57043127-C-G APCDD1L c.189-413G>C - IntronicSNV - 2/3
10-25791510-G-T GPR158 c.1404+35862G>T - IntronicSNV - 5/10
22-23480925-G-A RSPH14 c.302+102C>T - IntronicSNV - 3/6
16-89950901-G-A TCF25 c.355-89G>A - IntronicSNV - 2/17
4-99921044-C-A METAP1 c.114+4026C>A - IntronicSNV - 1/10
16-89733613-C-A SPATA33 c.209-2081C>A - IntronicSNV - 2/2
19-3021142-C-T TLE2 c.295-1371G>A - IntronicSNV - 5/19
19-3021142-C-A TLE2 c.295-1371G>T - IntronicSNV - 5/19
10-121064720-A-C GRK5 c.53-21308A>C - IntronicSNV - 1/15
19-3021142-C-G TLE2 c.295-1371G>C - IntronicSNV - 5/19
20-39767744-T-C PLCG1 c.217+1246T>C - IntronicSNV - 1/31
16-89998157-G-A TUBB3 c.58-822G>A - IntronicSNV - 1/3
3-132052499-C-T ACPP c.456+1311C>T - IntronicSNV - 4/9
1-234252101-A-T SLC35F3 c.284-115062A>T - IntronicSNV - 2/7
13-111976482-G-A TEX29 c.58+3187G>A - IntronicSNV - 2/5
8-86378134-C-A CA2 c.232+436C>A - IntronicSNV - 2/6
16-1390545-A-C BAIAP3 c.409-378A>C - IntronicSNV - 5/32
5-122486419-C-T PRDM6 c.901-5159C>T - IntronicSNV - 3/7
16-89953773-A-G TCF25 c.549-287A>G - IntronicSNV - 4/17
16-89731073-A-G SPATA33 c.209-4621A>G - IntronicSNV - 2/2
1-23117460-C-T EPHB2 c.811+5891C>T - IntronicSNV - 3/15
16-89731073-A-T SPATA33 c.209-4621A>T - IntronicSNV - 2/2
12-2105855-C-A DCP1B c.191+1246G>T - IntronicSNV - 2/8
11-44880701-C-A TSPAN18 c.1-47267C>A - IntronicSNV - 2/9
7-6203848-G-A CYTH3 c.*727C>T - 3-UTRSNV 13/13 -
16-89971909-A-T TCF25 c.1628+405A>T - IntronicSNV - 14/17
11-61604814-C-A FADS2 c.208-436C>A - IntronicSNV - 1/11
21-43362203-G-A C2CD2 c.378+53C>T - IntronicSNV - 2/13
14-105844400-C-T PACS2 c.959+1138C>T - IntronicSNV - 9/24
2-74725804-C-T LBX2 c.194-359G>A - IntronicSNV - 1/1
2-43015186-C-A HAAO c.159+483G>T - IntronicSNV - 2/9
6-38689506-T-C DNAH8 c.1-1080T>C - IntronicSNV - 1/92
6-38689506-T-A DNAH8 c.1-1080T>A - IntronicSNV - 1/92
3-13866499-G-A WNT7A c.571-5579C>T - IntronicSNV - 3/3
1-6163213-A-T CHD5 c.*3127T>A - 3-UTRSNV 42/42 -
16-89940536-G-A TCF25 c.192+269G>A - IntronicSNV - 1/17
1-6163213-A-G CHD5 c.*3127T>C - 3-UTRSNV 42/42 -
9-5232299-G-A INSL4 c.196+580G>A - IntronicSNV - 1/1
3-132235044-A-C DNAJC13 c.5486-222A>C - IntronicSNV - 46/55
8-450006-C-T TDRP c.109-5409G>A - IntronicSNV - 2/3
1-67182563-T-C SGIP1 c.1631-2414T>C - IntronicSNV - 18/24
4-143439674-T-G INPP4B c.1-87262A>C - IntronicSNV - 2/26
6-135317789-T-C HBS1L c.839+126A>G - IntronicSNV - 6/16
3-30682939-G-T TGFBR2 c.170-3300G>T - IntronicSNV - 2/7
16-89702203-C-T DPEP1 c.105-113C>T - IntronicSNV - 2/10
3-7531243-G-A GRM7 c.1515+27834G>A - IntronicSNV - 7/9
6-135373534-G-T HBS1L c.44-1749C>A - IntronicSNV - 1/16
20-263011-T-G C20orf96 c.306+1593A>C - IntronicSNV - 4/10
7-105613007-C-G CDHR3 c.47-2283C>G - IntronicSNV - 1/18
7-156955449-T-C UBE3C c.67-1055T>C - IntronicSNV - 1/22
3-30682939-G-C TGFBR2 c.170-3300G>C - IntronicSNV - 2/7
6-43446795-C-T TJAP1 c.-177+825C>T - intron_variant - 2/9
4-72288762-A-G SLC4A4 c.676-17571A>G - IntronicSNV - 4/22
13-111973098-T-C TEX29 c.-46T>C - 5_prime_UTR_variant 1/6 -
6-144915335-C-A UTRN c.7479+16911C>A - IntronicSNV - 50/73
6-149899981-T-C GINM1 c.301T>C p.Leu101Leu Synonymous 4/8 -
16-89949205-G-A TCF25 c.193-554G>A - IntronicSNV - 1/17
8-106389304-T-A ZFPM2 c.41-42068T>A - IntronicSNV - 1/7
14-105268740-C-T ZBTB42 c.1206C>T p.Ser402Ser Synonymous 1/1 -
11-61604782-A-T FADS2 c.208-468A>T - IntronicSNV - 1/11
16-89702653-C-T DPEP1 c.238-19C>T - IntronicSNV - 3/10
11-61616012-A-G FADS2 c.744+256A>G - IntronicSNV - 5/11
12-112563994-C-G TRAFD1 c.-13+572C>G - intron_variant - 1/11
3-108322812-T-C DZIP3 c.1-1442T>C - IntronicSNV - 1/32
12-112113850-T-A BRAP c.633+3105A>T - IntronicSNV - 4/11
8-82583771-G-T IMPA1 c.458-489C>A - IntronicSNV - 6/8
11-131921698-T-G NTM c.168-94478T>G - IntronicSNV - 1/6
1-8042826-G-T PARK7 c.410-2128G>T - IntronicSNV - 6/6
14-105268740-C-G ZBTB42 c.1206C>G p.Ser402Ser Synonymous 1/1 -
6-135296835-T-C HBS1L c.1671+2982A>G - IntronicSNV - 14/16
16-89957635-T-C TCF25 c.615-966T>C - IntronicSNV - 5/17
12-112563994-C-T TRAFD1 c.-13+572C>T - intron_variant - 1/11
17-77133677-G-A RBFOX3 c.1-21880C>T - IntronicSNV - 4/14
1-235757228-C-T GNG4 c.1-10090G>A - IntronicSNV - 1/2
22-34160426-A-T LARGE1 c.1-2963T>A - IntronicSNV - 1/14
11-61571478-T-C FADS1 c.1054-239A>G - IntronicSNV - 7/11
6-135262502-G-A ALDH8A1 c.442+1045C>T - IntronicSNV - 3/5
11-120170030-A-G POU2F3 c.265-303A>G - IntronicSNV - 4/12
11-120170030-A-C POU2F3 c.265-303A>C - IntronicSNV - 4/12
9-116959423-C-G COL27A1 c.2124+1131C>G - IntronicSNV - 7/60
7-39241481-A-G POU6F2 c.191-2353A>G - IntronicSNV - 3/10
9-116959423-C-T COL27A1 c.2124+1131C>T - IntronicSNV - 7/60
3-7543129-C-T GRM7 c.1515+39720C>T - IntronicSNV - 7/9
19-43528428-A-G PSG11 c.430+415T>C - IntronicSNV - 2/5
12-217426-T-C IQSEC3 c.623+9046T>C - IntronicSNV - 2/13
11-61549025-G-A MYRF c.2660-20G>A - IntronicSNV - 20/25
8-32476845-G-A NRG1 c.388+4763G>A - IntronicSNV - 4/11
16-89958538-G-A TCF25 c.615-63G>A - IntronicSNV - 5/17
3-195245093-G-A PPP1R2 c.571+722C>T - IntronicSNV - 5/5
4-72277027-G-A SLC4A4 c.675+13657G>A - IntronicSNV - 4/22
7-39379431-G-A POU6F2 c.702G>A p.Gln234Gln Synonymous 6/11 -
9-95524833-C-T BICD2 c.240+1954G>A - IntronicSNV - 1/7
4-72347491-A-G SLC4A4 c.1772-5174A>G - IntronicSNV - 11/22
3-108107951-C-T MYH15 c.5491-30G>A - IntronicSNV - 38/41
18-443747-C-T COLEC12 c.58+36960G>A - IntronicSNV - 2/9
16-89961140-C-A TCF25 c.829-306C>A - IntronicSNV - 7/17
19-56696094-T-C GALP c.296-490T>C - IntronicSNV - 5/5
19-56696094-T-G GALP c.296-490T>G - IntronicSNV - 5/5
22-31007023-A-T TCN2 c.230A>T p.Lys77Met Missense 2/9 -
19-10661270-C-T ATG4D c.967-1303C>T - IntronicSNV - 6/9
11-2705343-A-T KCNQ1 c.1514+22032A>T - IntronicSNV - 11/15
4-72378062-G-T SLC4A4 c.2034+14653G>T - IntronicSNV - 13/22
9-95524833-C-A BICD2 c.240+1954G>T - IntronicSNV - 1/7
22-39926962-G-A RPS19BP1 c.182-1040C>T - IntronicSNV - 2/3
12-132397214-G-A ULK1 c.1097-529G>A - IntronicSNV - 13/27
4-99574380-A-G TSPAN5 c.81+4917T>C - IntronicSNV - 1/7
14-105996119-C-T TMEM121 c.948C>T p.Pro316Pro Synonymous 2/2 -
11-61650926-C-T FADS3 c.214-3303G>A - IntronicSNV - 1/11
22-31007023-A-G TCN2 c.230A>G p.Lys77Arg Missense 2/9 -
6-39670164-C-T KIF6 c.251+12304G>A - IntronicSNV - 3/22
9-612251-G-A KANK1 c.1-64722G>A - IntronicSNV - 1/11
3-176883323-A-G TBL1XR1 c.-122+31586T>C - intron_variant - 1/15
9-8728144-A-G PTPRD c.64+5636T>C - IntronicSNV - 1/29
12-125310305-G-A SCARB1 c.127-8052C>T - IntronicSNV - 1/12
6-135248689-T-A ALDH8A1 c.861+1503A>T - IntronicSNV - 5/5
16-89966357-T-A TCF25 c.1222-686T>A - IntronicSNV - 11/17
7-104741062-G-A KMT2E c.1723-810G>A - IntronicSNV - 14/25
7-93553527-C-T GNG11 c.97-1876C>T - IntronicSNV - 1/1
3-196006501-G-A PCYT1A c.-11+3845C>T - intron_variant - 2/9
6-29913386-C-G HLA-A c.*154C>G - 3-UTRSNV 8/8 -
1-27153958-G-A ZDHHC18 c.335+328G>A - IntronicSNV - 1/7
8-86376401-G-C CA2 c.34+57G>C - IntronicSNV - 1/6
10-13711361-C-T FRMD4A c.1374+1045G>A - IntronicSNV - 17/24
X-33078480-G-A DMD c.32-40163C>T - IntronicSNV - 1/78
6-135264294-C-A ALDH8A1 c.287-592G>T - IntronicSNV - 2/5
10-17423398-G-A ST8SIA6 c.290+9132C>T - IntronicSNV - 3/7
16-89963289-C-G TCF25 c.1022+798C>G - IntronicSNV - 9/17
10-71079401-C-T HK1 c.63+635C>T - IntronicSNV - 1/17
15-40565705-G-C BUB1B-PAK6 c.1617+32G>C - IntronicSNV - 8/10
15-40565705-G-A BUB1B-PAK6 c.1617+32G>A - IntronicSNV - 8/10
11-61654092-C-A FADS3 c.213+4549G>T - IntronicSNV - 1/11
1-75598070-C-G LHX8 c.18+1653C>G - IntronicSNV - 2/9
16-89953066-G-C TCF25 c.548+692G>C - IntronicSNV - 4/17
7-39204792-C-G POU6F2 c.191-39042C>G - IntronicSNV - 3/10
6-135264294-C-T ALDH8A1 c.287-592G>A - IntronicSNV - 2/5
1-205893699-T-C SLC26A9 c.1390-82A>G - IntronicSNV - 12/20
4-141561949-C-A TBC1D9 c.2338-1367G>T - IntronicSNV - 13/20
15-66007972-A-T DENND4A c.1808-11T>A - IntronicSNV - 13/31
2-100576304-C-T AFF3 c.873+46790G>A - IntronicSNV - 6/23
11-61631690-T-C FADS2 c.1157+432T>C - IntronicSNV - 10/11
11-61543499-T-C MYRF c.1285-29T>C - IntronicSNV - 8/25
2-71577629-G-A ZNF638 c.1317+228G>A - IntronicSNV - 2/27
1-232549584-A-T SIPA1L2 c.4762+1656T>A - IntronicSNV - 17/20
15-40565705-G-T BUB1B-PAK6 c.1617+32G>T - IntronicSNV - 8/10
3-30682242-A-G TGFBR2 c.170-3997A>G - IntronicSNV - 2/7
16-88875478-C-T CDT1 c.*792C>T - 3-UTRSNV 10/10 -
6-148707649-C-A SASH1 c.157-3621C>A - IntronicSNV - 1/19
16-89962394-A-G TCF25 c.929-4A>G - IntronicSNV - 8/17
16-89927265-C-T SPIRE2 c.1575+62C>T - IntronicSNV - 10/14
6-33547430-G-A BAK1 c.-32+372C>T - intron_variant - 1/5
3-195257650-C-T PPP1R2 c.123-948G>A - IntronicSNV - 1/5
3-195257650-C-A PPP1R2 c.123-948G>T - IntronicSNV - 1/5
X-69112094-A-C EDA c.397-64783A>C - IntronicSNV - 1/7
X-69112094-A-G EDA c.397-64783A>G - IntronicSNV - 1/7
11-61597972-A-G FADS2 c.207+1903A>G - IntronicSNV - 1/11
16-89733613-C-T SPATA33 c.209-2081C>T - IntronicSNV - 2/2
9-26942825-C-G PLAA c.149+4070G>C - IntronicSNV - 1/13
16-89949033-T-C TCF25 c.193-726T>C - IntronicSNV - 1/17
1-153977156-T-C NUP210L c.4931-2695A>G - IntronicSNV - 35/39