PMID: 31409800

GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

Nature communications
R Pazoki, E Evangelou, D Mosen-Ansorena, RC Pinto, I Karaman, P Blakeley, D Gill, V Zuber, P Elliott, I Tzoulaki, A Dehghan
2019-08-13

1211 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-73025975-A-G MLXIPL c.401-3973T>C - IntronicSNV - 2/16
2-61679552-G-C USP34 c.43+18233C>G - IntronicSNV - 1/79
2-61679552-G-A USP34 c.43+18233C>T - IntronicSNV - 1/79
2-61679552-G-T USP34 c.43+18233C>A - IntronicSNV - 1/79
10-22218941-A-G DNAJC1 c.223-871T>C - IntronicSNV - 1/11
11-31650308-T-A ELP4 c.738+1567T>A - IntronicSNV - 6/9
10-22114427-A-G DNAJC1 c.979-19399T>C - IntronicSNV - 8/11
15-75222225-C-T COX5A c.101-652G>A - IntronicSNV - 1/4
14-26974414-A-G NOVA1 c.281-25065T>C - IntronicSNV - 2/4
2-61741811-T-C XPO1 c.301+7935A>G - IntronicSNV - 4/24
2-61741811-T-A XPO1 c.301+7935A>T - IntronicSNV - 4/24
16-53827179-C-G FTO c.46-16873C>G - IntronicSNV - 1/8
7-72881807-C-T BAZ1B c.2867-1076G>A - IntronicSNV - 9/19
14-27004728-A-T NOVA1 c.281-55379T>A - IntronicSNV - 2/4
14-27004728-A-G NOVA1 c.281-55379T>C - IntronicSNV - 2/4
10-21931937-T-C MLLT10 c.700-8665T>C - IntronicSNV - 8/22
11-31345574-G-A DCDC1 c.164+4090C>T - IntronicSNV - 3/8
2-61581890-C-G USP34 c.1252-4062G>C - IntronicSNV - 10/79
11-31496489-T-G IMMP1L c.1-11666A>C - IntronicSNV - 1/6
15-75498744-G-C C15orf39 c.355G>C p.Ala119Pro Missense 2/3 -
16-53822239-A-G FTO c.46-21813A>G - IntronicSNV - 1/8
16-53822239-A-T FTO c.46-21813A>T - IntronicSNV - 1/8
2-61749472-G-T XPO1 c.301+274C>A - IntronicSNV - 4/24
2-27598097-T-C SNX17 c.774+77T>C - IntronicSNV - 9/14
6-53961513-G-T MLIP c.64-24732G>T - IntronicSNV - 1/12
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
8-41367882-A-G GOLGA7 c.*795A>G - 3_prime_UTR_variant 6/6 -
6-53961784-A-G MLIP c.64-24461A>G - IntronicSNV - 1/12
6-51501218-G-T PKHD1 c.11506+2429C>A - IntronicSNV - 64/66
6-51501218-G-A PKHD1 c.11506+2429C>T - IntronicSNV - 64/66
14-27043304-T-C NOVA1 c.280+21312A>G - IntronicSNV - 2/4
16-53819893-A-G FTO c.46-24159A>G - IntronicSNV - 1/8
2-61677137-C-A USP34 c.43+20648G>T - IntronicSNV - 1/79
10-65315433-T-C REEP3 c.33-10665T>C - IntronicSNV - 1/7
2-166197765-G-A SCN2A c.2389-1041G>A - IntronicSNV - 14/26
2-61679924-A-G USP34 c.43+17861T>C - IntronicSNV - 1/79
2-61509783-G-A USP34 c.4998+497C>T - IntronicSNV - 37/79
2-61509783-G-C USP34 c.4998+497C>G - IntronicSNV - 37/79
5-642293-A-T CEP72 c.1539+1574A>T - IntronicSNV - 9/11
2-61679924-A-T USP34 c.43+17861T>A - IntronicSNV - 1/79
14-26976797-G-C NOVA1 c.281-27448C>G - IntronicSNV - 2/4
5-642293-A-G CEP72 c.1539+1574A>G - IntronicSNV - 9/11
13-99101426-G-C FARP1 c.*855G>C - 3-UTRSNV 27/27 -
13-99101426-G-A FARP1 c.*855G>A - 3-UTRSNV 27/27 -
2-166192403-C-A SCN2A c.2388+4325C>A - IntronicSNV - 14/26
7-73022746-G-A MLXIPL c.401-744C>T - IntronicSNV - 2/16
14-79894046-G-A NRXN3 c.248-39518G>A - IntronicSNV - 1/6
6-127630046-A-C ECHDC1 c.497+5915T>G - IntronicSNV - 5/5
19-49218060-C-T MAMSTR c.219+3G>A - IntronicSNV - 4/7
13-99113230-A-C STK24 c.1090-536T>G - IntronicSNV - 8/10
2-166222685-T-G SCN2A c.3520+912T>G - IntronicSNV - 18/26
19-49208865-G-A FUT2 c.*1620G>A - 3-UTRSNV 2/2 -
5-646418-G-C CEP72 c.1667-1502G>C - IntronicSNV - 10/11
2-61417145-C-T USP34 c.9873+261G>A - IntronicSNV - 78/79
1-54726088-A-C SSBP3 c.367-2266T>G - IntronicSNV - 5/16
2-61417145-C-G USP34 c.9873+261G>C - IntronicSNV - 78/79
11-31301147-G-C DCDC1 c.960+11047C>G - IntronicSNV - 7/8
6-53971401-G-A MLIP c.64-14844G>A - IntronicSNV - 1/12
16-53839135-T-G FTO c.46-4917T>G - IntronicSNV - 1/8
16-53837144-G-T FTO c.46-6908G>T - IntronicSNV - 1/8
13-99104004-T-C STK24 c.*1423A>G - 3-UTRSNV 11/11 -
14-26946238-T-C NOVA1 c.447+2945A>G - IntronicSNV - 3/4
6-51492164-T-A PKHD1 c.11666-250A>T - IntronicSNV - 65/66
5-676768-G-A TPPP c.311+1097C>T - IntronicSNV - 2/3
11-31797603-A-G ELP4 c.1144-7338A>G - IntronicSNV - 9/9
11-31534584-A-T ELP4 c.223+3030A>T - IntronicSNV - 1/9
2-61615667-G-A USP34 c.754-5196C>T - IntronicSNV - 5/79
10-21916728-C-T MLLT10 c.699+10592C>T - IntronicSNV - 8/22
10-22208630-T-C DNAJC1 c.635+131A>G - IntronicSNV - 5/11
13-99101869-G-C FARP1 c.*1298G>C - 3-UTRSNV 27/27 -
16-53839135-T-A FTO c.46-4917T>A - IntronicSNV - 1/8
16-53839135-T-C FTO c.46-4917T>C - IntronicSNV - 1/8
16-53841177-A-G FTO c.46-2875A>G - IntronicSNV - 1/8
2-61764140-C-A XPO1 c.-7+557G>T - intron_variant - 1/24
19-49207651-T-C FUT2 c.*406T>C - 3-UTRSNV 2/2 -
19-49207651-T-A FUT2 c.*406T>A - 3-UTRSNV 2/2 -
10-21806832-A-C SKIDA1 c.1-81T>G - 5-UTRSNV 4/4 -
2-61764140-C-T XPO1 c.-7+557G>A - intron_variant - 1/24
10-65328518-C-A REEP3 c.105+2348C>A - IntronicSNV - 2/7
10-65328518-C-G REEP3 c.105+2348C>G - IntronicSNV - 2/7
16-53830198-G-T FTO c.46-13854G>T - IntronicSNV - 1/8
10-21827796-G-A MLLT10 c.195G>A p.Pro65Pro Synonymous 3/23 -
10-21827796-G-T MLLT10 c.195G>T p.Pro65Pro Synonymous 3/23 -
1-72577179-T-A NEGR1 c.176+170823A>T - IntronicSNV - 1/6
10-22286351-A-T DNAJC1 c.222+5791T>A - IntronicSNV - 1/11
10-22286351-A-G DNAJC1 c.222+5791T>C - IntronicSNV - 1/11
16-53820503-G-A FTO c.46-23549G>A - IntronicSNV - 1/8
10-65293860-T-C REEP3 c.32+12523T>C - IntronicSNV - 1/7
16-53800568-G-A FTO c.46-43484G>A - IntronicSNV - 1/8
2-61461183-G-C USP34 c.7033-1516C>G - IntronicSNV - 57/79
2-61461183-G-T USP34 c.7033-1516C>A - IntronicSNV - 57/79
6-53975913-T-C MLIP c.64-10332T>C - IntronicSNV - 1/12
16-53822502-T-A FTO c.46-21550T>A - IntronicSNV - 1/8
2-61560264-T-C USP34 c.2834+753A>G - IntronicSNV - 19/79
10-65353755-A-T REEP3 c.106-783A>T - IntronicSNV - 2/7
11-31365940-G-T DCDC1 c.1-16113C>A - IntronicSNV - 1/8
6-53969932-G-C MLIP c.64-16313G>C - IntronicSNV - 1/12
11-31311429-C-G DCDC1 c.960+765G>C - IntronicSNV - 7/8
11-31311429-C-A DCDC1 c.960+765G>T - IntronicSNV - 7/8
11-31311429-C-T DCDC1 c.960+765G>A - IntronicSNV - 7/8
6-53988852-A-C MLIP c.220-419A>C - IntronicSNV - 2/12
13-99120452-G-A STK24 c.634-1637C>T - IntronicSNV - 5/10
2-61761774-A-G XPO1 c.1-742T>C - IntronicSNV - 1/24
2-61752154-G-T XPO1 c.228+1401C>A - IntronicSNV - 3/24
2-61752154-G-A XPO1 c.228+1401C>T - IntronicSNV - 3/24
10-65335315-T-C REEP3 c.105+9145T>C - IntronicSNV - 2/7
19-49208543-T-C FUT2 c.*1298T>C - 3-UTRSNV 2/2 -
19-49208501-A-G FUT2 c.*1256A>G - 3-UTRSNV 2/2 -
10-22246114-T-C DNAJC1 c.223-28044A>G - IntronicSNV - 1/11
10-22246114-T-G DNAJC1 c.223-28044A>C - IntronicSNV - 1/11
14-26974414-A-C NOVA1 c.281-25065T>G - IntronicSNV - 2/4
2-61741947-T-G XPO1 c.301+7799A>C - IntronicSNV - 4/24
10-22123768-A-G DNAJC1 c.979-28740T>C - IntronicSNV - 8/11
7-73012042-G-A MLXIPL c.1073C>T p.Ala358Val Missense 9/17 -
13-99111560-C-T STK24 c.1158+1066G>A - IntronicSNV - 9/10
8-68125660-C-G ARFGEF1 c.4687-1810G>C - IntronicSNV - 33/38
7-73027450-C-A MLXIPL c.400+2951G>T - IntronicSNV - 2/16
2-61646631-T-C USP34 c.131+1250A>G - IntronicSNV - 2/79
10-22050570-G-A DNAJC1 c.1148-2023C>T - IntronicSNV - 10/11
10-22050570-G-C DNAJC1 c.1148-2023C>G - IntronicSNV - 10/11
10-22050570-G-T DNAJC1 c.1148-2023C>A - IntronicSNV - 10/11
19-49206172-C-T FUT2 c.1-42C>T - IntronicSNV - 1/1
11-31313761-A-G DCDC1 c.755-1362T>C - IntronicSNV - 6/8
2-61716924-G-A XPO1 c.2022+853C>T - IntronicSNV - 17/24
2-61716924-G-T XPO1 c.2022+853C>A - IntronicSNV - 17/24
10-22213104-T-A DNAJC1 c.372-3212A>T - IntronicSNV - 3/11
10-22213104-T-C DNAJC1 c.372-3212A>G - IntronicSNV - 3/11
5-686244-C-A TPPP c.-5+7149G>T - intron_variant - 1/3
16-53803223-G-A FTO c.46-40829G>A - IntronicSNV - 1/8
19-49219281-T-C MAMSTR c.1-647A>G - IntronicSNV - 1/7
6-54022371-A-G MLIP c.685-2794A>G - IntronicSNV - 4/12
2-61751333-A-G XPO1 c.229-1515T>C - IntronicSNV - 3/24
16-53830491-T-C FTO c.46-13561T>C - IntronicSNV - 1/8
7-73027450-C-G MLXIPL c.400+2951G>C - IntronicSNV - 2/16
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
2-61588642-T-C USP34 c.1251+8814A>G - IntronicSNV - 10/79
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
19-49239026-T-C RASIP1 c.824-218A>G - IntronicSNV - 3/11
13-99113166-A-G STK24 c.1090-472T>C - IntronicSNV - 8/10
11-31319044-T-C DCDC1 c.755-6645A>G - IntronicSNV - 6/8
10-21834536-G-A MLLT10 c.240+6695G>A - IntronicSNV - 3/22
2-61748900-C-G XPO1 c.301+846G>C - IntronicSNV - 4/24
10-22088054-A-G DNAJC1 c.1098+6855T>C - IntronicSNV - 9/11
2-61748900-C-T XPO1 c.301+846G>A - IntronicSNV - 4/24
7-72989390-A-G TBL2 c.131-547T>C - IntronicSNV - 1/6
16-53839422-T-C FTO c.46-4630T>C - IntronicSNV - 1/8
10-65319678-T-C REEP3 c.33-6420T>C - IntronicSNV - 1/7
7-72971531-C-T BCL7B c.92+286G>A - IntronicSNV - 1/5
7-72971531-C-A BCL7B c.92+286G>T - IntronicSNV - 1/5
1-54734191-G-C SSBP3 c.367-10369C>G - IntronicSNV - 5/16
1-72619961-C-A NEGR1 c.176+128041G>T - IntronicSNV - 1/6
1-54730651-T-C SSBP3 c.367-6829A>G - IntronicSNV - 5/16
19-49233335-G-A RASIP1 c.1180-488C>T - IntronicSNV - 4/11
2-61581890-C-A USP34 c.1252-4062G>T - IntronicSNV - 10/79
16-53830055-C-G FTO c.46-13997C>G - IntronicSNV - 1/8
14-79939993-G-A NRXN3 c.429+6248G>A - IntronicSNV - 2/6
7-73020676-G-A MLXIPL c.619-235C>T - IntronicSNV - 5/16
10-21983960-C-G MLLT10 c.1699+12774C>G - IntronicSNV - 13/22
14-26961879-T-C NOVA1 c.281-12530A>G - IntronicSNV - 2/4
10-21983960-C-A MLLT10 c.1699+12774C>A - IntronicSNV - 13/22
10-21983960-C-T MLLT10 c.1699+12774C>T - IntronicSNV - 13/22
11-31382517-A-G DCDC1 c.-125+8727T>C - intron_variant - 1/8
11-31382517-A-T DCDC1 c.-125+8727T>A - intron_variant - 1/8
2-61458206-A-T USP34 c.7113+1381T>A - IntronicSNV - 58/79
1-72573798-T-C NEGR1 c.177-172804A>G - IntronicSNV - 1/6
1-72573798-T-A NEGR1 c.177-172804A>T - IntronicSNV - 1/6
2-61458206-A-G USP34 c.7113+1381T>C - IntronicSNV - 58/79
10-65337153-T-C REEP3 c.105+10983T>C - IntronicSNV - 2/7
3-27416999-T-C SLC4A7 c.*1256A>G - 3-UTRSNV 25/25 -
2-61650715-T-A USP34 c.44-2747A>T - IntronicSNV - 1/79
2-61650715-T-G USP34 c.44-2747A>C - IntronicSNV - 1/79
7-73030103-A-T MLXIPL c.400+298T>A - IntronicSNV - 2/16
7-73030103-A-G MLXIPL c.400+298T>C - IntronicSNV - 2/16
7-73030103-A-C MLXIPL c.400+298T>G - IntronicSNV - 2/16
10-65323997-G-T REEP3 c.33-2101G>T - IntronicSNV - 1/7
10-65323997-G-A REEP3 c.33-2101G>A - IntronicSNV - 1/7
14-26940042-G-A NOVA1 c.520-346C>T - IntronicSNV - 4/4
19-49206603-C-T FUT2 c.390C>T p.Asn130Asn Synonymous 2/2 -
14-26975521-T-G NOVA1 c.281-26172A>C - IntronicSNV - 2/4
2-61435275-C-T USP34 c.8919+759G>A - IntronicSNV - 70/79
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
10-65337153-T-G REEP3 c.105+10983T>G - IntronicSNV - 2/7
5-684848-G-A TPPP c.1-6673C>T - IntronicSNV - 1/3
19-46182304-T-A GIPR c.1152+820T>A - IntronicSNV - 12/13
7-73030175-G-A MLXIPL c.400+226C>T - IntronicSNV - 2/16
2-61452879-T-C USP34 c.7595+1323A>G - IntronicSNV - 62/79
15-75340727-G-T PPCDC c.361-167G>T - IntronicSNV - 4/5
11-31355524-A-C DCDC1 c.-7+1470T>G - intron_variant - 2/8
6-126666416-C-G CENPW c.127-935C>G - IntronicSNV - 1/2
6-53975187-T-C MLIP c.64-11058T>C - IntronicSNV - 1/12
19-49247963-G-T IZUMO1 c.311-167C>A - IntronicSNV - 3/9
1-72586209-A-T NEGR1 c.176+161793T>A - IntronicSNV - 1/6
13-99111337-A-G STK24 c.1158+1289T>C - IntronicSNV - 9/10
10-65331511-G-C REEP3 c.105+5341G>C - IntronicSNV - 2/7
13-99111337-A-T STK24 c.1158+1289T>A - IntronicSNV - 9/10
5-148032931-C-T HTR4 c.-48+694G>A - intron_variant - 1/6
16-53803574-T-A FTO c.46-40478T>A - IntronicSNV - 1/8
16-53800754-G-A FTO c.46-43298G>A - IntronicSNV - 1/8
2-68428283-G-C PPP3R1 c.44-12461C>G - IntronicSNV - 2/5
7-73020676-G-C MLXIPL c.619-235C>G - IntronicSNV - 5/16
10-21878144-T-G MLLT10 c.295+2867T>G - IntronicSNV - 4/22
10-21878144-T-A MLLT10 c.295+2867T>A - IntronicSNV - 4/22
2-61713580-G-C XPO1 c.2314-483C>G - IntronicSNV - 19/24
2-61679894-C-G USP34 c.43+17891G>C - IntronicSNV - 1/79
6-54016877-A-G MLIP c.684+2952A>G - IntronicSNV - 4/12
10-65317056-A-T REEP3 c.33-9042A>T - IntronicSNV - 1/7
10-65336207-T-C REEP3 c.105+10037T>C - IntronicSNV - 2/7
7-73020676-G-T MLXIPL c.619-235C>A - IntronicSNV - 5/16
8-17426274-A-G SLC7A2 c.*3619A>G - 3-UTRSNV 12/12 -
10-65318766-G-T REEP3 c.33-7332G>T - IntronicSNV - 1/7
14-27056252-C-A NOVA1 c.280+8364G>T - IntronicSNV - 2/4
14-26969872-C-T NOVA1 c.281-20523G>A - IntronicSNV - 2/4
16-53807764-A-G FTO c.46-36288A>G - IntronicSNV - 1/8
16-53807764-A-C FTO c.46-36288A>C - IntronicSNV - 1/8
16-53802494-C-T FTO c.46-41558C>T - IntronicSNV - 1/8
7-73015369-G-C MLXIPL c.902-1344C>G - IntronicSNV - 7/16
14-26980915-G-A NOVA1 c.281-31566C>T - IntronicSNV - 2/4
7-73015369-G-A MLXIPL c.902-1344C>T - IntronicSNV - 7/16
14-26980915-G-C NOVA1 c.281-31566C>G - IntronicSNV - 2/4
10-65313819-A-G REEP3 c.33-12279A>G - IntronicSNV - 1/7
6-54010681-G-A MLIP c.613-3173G>A - IntronicSNV - 3/12
10-65328539-C-T REEP3 c.105+2369C>T - IntronicSNV - 2/7
10-65328539-C-G REEP3 c.105+2369C>G - IntronicSNV - 2/7
13-113139568-G-T TUBGCP3 c.*739C>A - 3-UTRSNV 22/22 -
13-113139568-G-A TUBGCP3 c.*739C>T - 3-UTRSNV 22/22 -
14-27017018-T-C NOVA1 c.280+47598A>G - IntronicSNV - 2/4
19-46183586-C-T GIPR c.1153-1276C>T - IntronicSNV - 12/13
10-65313819-A-C REEP3 c.33-12279A>C - IntronicSNV - 1/7
10-65350383-A-G REEP3 c.106-4155A>G - IntronicSNV - 2/7
10-21889138-G-A MLLT10 c.405+4769G>A - IntronicSNV - 5/22
5-644552-G-A CEP72 c.1666+12G>A - IntronicSNV - 10/11
5-677200-C-G TPPP c.311+665G>C - IntronicSNV - 2/3
5-644552-G-T CEP72 c.1666+12G>T - IntronicSNV - 10/11
5-677200-C-T TPPP c.311+665G>A - IntronicSNV - 2/3
14-26973010-G-A NOVA1 c.281-23661C>T - IntronicSNV - 2/4
10-22017545-A-G MLLT10 c.2063+688A>G - IntronicSNV - 16/22
11-31504557-A-G IMMP1L c.-92-9224T>C - intron_variant - 1/6
5-87532258-G-A TMEM161B c.107+4372C>T - IntronicSNV - 2/11
10-21830104-A-G MLLT10 c.240+2263A>G - IntronicSNV - 3/22
2-61540687-A-T USP34 c.3542+1033T>A - IntronicSNV - 25/79
6-129367294-T-G LAMA2 c.113-3769T>G - IntronicSNV - 1/64
16-53812433-T-C FTO c.46-31619T>C - IntronicSNV - 1/8
16-53825488-C-T FTO c.46-18564C>T - IntronicSNV - 1/8
2-61437044-G-T USP34 c.8841-932C>A - IntronicSNV - 69/79
19-49232226-G-A RASIP1 c.1801C>T p.Arg601Cys Missense 5/12 -
16-53848561-A-G FTO c.123+4432A>G - IntronicSNV - 2/8
10-65329518-A-G REEP3 c.105+3348A>G - IntronicSNV - 2/7
10-22145687-C-T DNAJC1 c.978+25524G>A - IntronicSNV - 8/11
10-22145687-C-G DNAJC1 c.978+25524G>C - IntronicSNV - 8/11
2-61437044-G-C USP34 c.8841-932C>G - IntronicSNV - 69/79
2-61437044-G-A USP34 c.8841-932C>T - IntronicSNV - 69/79
1-54729435-T-C SSBP3 c.367-5613A>G - IntronicSNV - 5/16
11-31335424-C-A DCDC1 c.165-5969G>T - IntronicSNV - 3/8
2-27815510-A-C ZNF512 c.90-5424A>C - IntronicSNV - 2/13
10-22191381-A-C DNAJC1 c.820+2070T>G - IntronicSNV - 7/11
10-22058137-G-C DNAJC1 c.1099-2899C>G - IntronicSNV - 9/11
10-22058137-G-T DNAJC1 c.1099-2899C>A - IntronicSNV - 9/11
6-53988640-T-C MLIP c.220-631T>C - IntronicSNV - 2/12
6-53977449-C-T MLIP c.64-8796C>T - IntronicSNV - 1/12
19-49244220-G-C IZUMO1 c.998C>G p.Ala333Gly Missense 10/10 -
2-166222858-C-T SCN2A c.3521-869C>T - IntronicSNV - 18/26
2-27815510-A-T ZNF512 c.90-5424A>T - IntronicSNV - 2/13
16-53816752-A-G FTO c.46-27300A>G - IntronicSNV - 1/8
16-53816275-C-A FTO c.46-27777C>A - IntronicSNV - 1/8
16-53801549-C-T FTO c.46-42503C>T - IntronicSNV - 1/8
2-61540923-T-C USP34 c.3542+797A>G - IntronicSNV - 25/79
5-148030594-A-G HTR4 c.-48+3031T>C - intron_variant - 1/6
5-660491-C-T TPPP c.*4726G>A - 3-UTRSNV 4/4 -
2-61596180-A-G USP34 c.1251+1276T>C - IntronicSNV - 10/79
6-129367294-T-A LAMA2 c.113-3769T>A - IntronicSNV - 1/64
11-31496489-T-C IMMP1L c.1-11666A>G - IntronicSNV - 1/6
14-79890677-C-T NRXN3 c.248-42887C>T - IntronicSNV - 1/6
2-166218459-T-C SCN2A c.3400-3194T>C - IntronicSNV - 17/26
7-73010442-C-T MLXIPL c.2058+41G>A - IntronicSNV - 13/16
6-126661154-T-C CENPW c.1-266T>C - IntergenicSNV 1/3 -
2-27840640-G-A ZNF512 c.1395+202G>A - IntronicSNV - 13/13
2-27840640-G-C ZNF512 c.1395+202G>C - IntronicSNV - 13/13
5-671294-C-T TPPP c.312-5056G>A - IntronicSNV - 2/3
2-61647901-A-G USP34 c.111T>C p.Tyr37Tyr Synonymous 2/80 -
6-53987272-A-G MLIP c.219+872A>G - IntronicSNV - 2/12
5-671294-C-G TPPP c.312-5056G>C - IntronicSNV - 2/3
6-54007719-A-C MLIP c.613-6135A>C - IntronicSNV - 3/12
19-49206674-G-A FUT2 c.461G>A p.Trp154* Nonsense 2/2 -
11-31302990-A-T DCDC1 c.960+9204T>A - IntronicSNV - 7/8
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
2-166196214-A-T SCN2A c.2389-2592A>T - IntronicSNV - 14/26
18-53210302-G-T TCF4 c.145+42209C>A - IntronicSNV - 3/19
6-127812443-A-G SOGA3 c.1486-8314T>C - IntronicSNV - 4/11
2-68479576-G-A PPP3R1 c.1-317C>T - 5-UTRSNV 1/6 -
19-46202172-C-T QPCTL c.886+14C>T - IntronicSNV - 5/6
6-51480486-G-A PKHD1 c.*3393C>T - 3-UTRSNV 67/67 -
6-127655248-T-A ECHDC1 c.1-3075A>T - IntronicSNV - 1/5
2-166196214-A-C SCN2A c.2389-2592A>C - IntronicSNV - 14/26
1-54729511-G-A SSBP3 c.367-5689C>T - IntronicSNV - 5/16
2-61608540-C-A USP34 c.822-1044G>T - IntronicSNV - 6/79
6-51492862-C-T PKHD1 c.11666-948G>A - IntronicSNV - 65/66
16-53830465-A-G FTO c.46-13587A>G - IntronicSNV - 1/8
11-31386150-C-A DCDC1 c.-125+5094G>T - intron_variant - 1/8
1-54721930-C-T SSBP3 c.447+1812G>A - IntronicSNV - 6/16
2-27821482-C-T ZNF512 c.277+361C>T - IntronicSNV - 3/13
16-53799847-G-A FTO c.46-44205G>A - IntronicSNV - 1/8
10-22215860-T-A DNAJC1 c.371+1575A>T - IntronicSNV - 3/11
10-22215860-T-C DNAJC1 c.371+1575A>G - IntronicSNV - 3/11
2-27910706-A-C SLC4A1AP c.2117-95A>C - IntronicSNV - 10/13
19-49227256-C-T RASIP1 c.2544+338G>A - IntronicSNV - 10/11
19-49227256-C-G RASIP1 c.2544+338G>C - IntronicSNV - 10/11
10-21844605-T-A MLLT10 c.240+16764T>A - IntronicSNV - 3/22
2-61604383-G-A USP34 c.1076+1115C>T - IntronicSNV - 8/79
10-21844605-T-G MLLT10 c.240+16764T>G - IntronicSNV - 3/22
16-53824226-A-G FTO c.46-19826A>G - IntronicSNV - 1/8
5-665295-A-G TPPP c.582T>C p.Asp194Asp Synonymous 4/4 -
5-674141-A-G TPPP c.311+3724T>C - IntronicSNV - 2/3
2-61603357-A-C USP34 c.1076+2141T>G - IntronicSNV - 8/79
16-53799507-G-A FTO c.46-44545G>A - IntronicSNV - 1/8
19-49247086-A-G IZUMO1 c.419-304T>C - IntronicSNV - 5/9
2-166182354-T-C SCN2A c.2017-1008T>C - IntronicSNV - 12/26
11-31800874-G-A ELP4 c.1144-4067G>A - IntronicSNV - 9/9
10-22273531-C-T DNAJC1 c.222+18611G>A - IntronicSNV - 1/11
13-99118590-C-T STK24 c.819+40G>A - IntronicSNV - 6/10
10-22105035-A-T DNAJC1 c.979-10007T>A - IntronicSNV - 8/11
5-664084-G-A TPPP c.*1133C>T - 3-UTRSNV 4/4 -
10-22241212-T-G DNAJC1 c.223-23142A>C - IntronicSNV - 1/11
10-22241212-T-A DNAJC1 c.223-23142A>T - IntronicSNV - 1/11
2-61692203-G-T USP34 c.43+5582C>A - IntronicSNV - 1/79
10-22105035-A-G DNAJC1 c.979-10007T>C - IntronicSNV - 8/11
16-53837342-A-G FTO c.46-6710A>G - IntronicSNV - 1/8
7-72907459-C-T BAZ1B c.572-208G>A - IntronicSNV - 4/19
5-636299-C-T CEP72 c.904+600C>T - IntronicSNV - 6/11
2-27836605-C-G ZNF512 c.1132-1430C>G - IntronicSNV - 10/13
14-26939474-T-A NOVA1 c.*196A>T - 3-UTRSNV 5/5 -
2-27836605-C-T ZNF512 c.1132-1430C>T - IntronicSNV - 10/13
2-61595291-G-A USP34 c.1251+2165C>T - IntronicSNV - 10/79
10-65323809-T-G REEP3 c.33-2289T>G - IntronicSNV - 1/7
19-49218430-A-G MAMSTR c.116+89T>C - IntronicSNV - 3/7
2-68423492-A-C PPP3R1 c.44-7670T>G - IntronicSNV - 2/5
2-68423492-A-T PPP3R1 c.44-7670T>A - IntronicSNV - 2/5
19-49241014-G-A RASIP1 c.823+1203C>T - IntronicSNV - 3/11
2-166207275-G-A SCN2A c.2920-3427G>A - IntronicSNV - 16/26
2-27834152-T-C ZNF512 c.1131+3246T>C - IntronicSNV - 10/13
7-72915521-G-A BAZ1B c.370-2493C>T - IntronicSNV - 3/19
7-72915521-G-C BAZ1B c.370-2493C>G - IntronicSNV - 3/19
2-61724568-G-A XPO1 c.760-426C>T - IntronicSNV - 9/24
14-26970083-T-G NOVA1 c.281-20734A>C - IntronicSNV - 2/4
14-26970083-T-A NOVA1 c.281-20734A>T - IntronicSNV - 2/4
7-72895946-T-C BAZ1B c.892-3047A>G - IntronicSNV - 6/19
10-21981257-T-G MLLT10 c.1699+10071T>G - IntronicSNV - 13/22
1-72610879-G-T NEGR1 c.176+137123C>A - IntronicSNV - 1/6
11-31407788-G-A DNAJC24 c.111+15382G>A - IntronicSNV - 2/4
11-31407788-G-C DNAJC24 c.111+15382G>C - IntronicSNV - 2/4
2-61691260-T-C USP34 c.43+6525A>G - IntronicSNV - 1/79
11-31538155-T-G ELP4 c.224-3448T>G - IntronicSNV - 1/9
2-61725501-G-A XPO1 c.759+307C>T - IntronicSNV - 9/24
13-67376616-C-T PCDH9 c.3138+101020G>A - IntronicSNV - 3/4
10-65286667-T-C REEP3 c.32+5330T>C - IntronicSNV - 1/7
19-49248331-G-A IZUMO1 c.310+140C>T - IntronicSNV - 3/9
10-65331859-A-G REEP3 c.105+5689A>G - IntronicSNV - 2/7
19-49241014-G-C RASIP1 c.823+1203C>G - IntronicSNV - 3/11
5-681976-G-A TPPP c.1-3801C>T - IntronicSNV - 1/3
11-31799873-G-C ELP4 c.1144-5068G>C - IntronicSNV - 9/9
5-681976-G-C TPPP c.1-3801C>G - IntronicSNV - 1/3
11-31740989-A-C ELP4 c.1144-63952A>C - IntronicSNV - 9/9
19-49209010-T-C FUT2 c.*1765T>C - 3-UTRSNV 2/2 -
16-30423751-G-A ZNF771 c.141+4236G>A - IntronicSNV - 2/2
14-79930644-T-C NRXN3 c.248-2920T>C - IntronicSNV - 1/6
10-65323265-G-A REEP3 c.33-2833G>A - IntronicSNV - 1/7
11-31740989-A-T ELP4 c.1144-63952A>T - IntronicSNV - 9/9
10-65329622-A-T REEP3 c.105+3452A>T - IntronicSNV - 2/7
10-65329622-A-C REEP3 c.105+3452A>C - IntronicSNV - 2/7
10-65357438-G-A REEP3 c.183-346G>A - IntronicSNV - 3/7
2-61727215-G-A XPO1 c.409-186C>T - IntronicSNV - 6/24
22-24837301-T-C ADORA2A c.1083T>C p.Tyr361Tyr Synonymous 3/3 -
2-166186923-A-G SCN2A c.2150-917A>G - IntronicSNV - 13/26
7-73019975-A-G MLXIPL c.901+43T>C - IntronicSNV - 7/16
11-31693226-G-A ELP4 c.1143+21457G>A - IntronicSNV - 9/9
10-65293924-T-G REEP3 c.32+12587T>G - IntronicSNV - 1/7
10-22062729-T-G DNAJC1 c.1099-7491A>C - IntronicSNV - 9/11
5-661856-T-C TPPP c.*3361A>G - 3-UTRSNV 4/4 -
2-61695589-A-T USP34 c.43+2196T>A - IntronicSNV - 1/79
2-61695589-A-G USP34 c.43+2196T>C - IntronicSNV - 1/79
10-21980514-G-A MLLT10 c.1699+9328G>A - IntronicSNV - 13/22
16-53818834-A-G FTO c.46-25218A>G - IntronicSNV - 1/8
11-31366700-T-A DCDC1 c.-124-9589A>T - intron_variant - 1/8
11-31309813-A-C DCDC1 c.960+2381T>G - IntronicSNV - 7/8
19-49227443-C-T RASIP1 c.2544+151G>A - IntronicSNV - 10/11
10-22133793-T-A DNAJC1 c.978+37418A>T - IntronicSNV - 8/11
10-22133793-T-G DNAJC1 c.978+37418A>C - IntronicSNV - 8/11
15-75289722-T-C SCAMP5 c.-49+1708T>C - intron_variant - 1/6
11-31287455-C-T DCDC1 c.961-308G>A - IntronicSNV - 7/8
11-31287455-C-A DCDC1 c.961-308G>T - IntronicSNV - 7/8
6-51508011-T-G PKHD1 c.11399-4257A>C - IntronicSNV - 63/66
10-22174541-C-G DNAJC1 c.821-3173G>C - IntronicSNV - 7/11
10-22174541-C-T DNAJC1 c.821-3173G>A - IntronicSNV - 7/11
2-61681428-G-T USP34 c.43+16357C>A - IntronicSNV - 1/79
2-61425621-T-C USP34 c.9508+4654A>G - IntronicSNV - 75/79
6-128051721-G-A THEMIS c.1759-10753C>T - IntronicSNV - 4/5
2-61762161-A-G XPO1 c.1-1129T>C - IntronicSNV - 1/24
2-61733012-T-C XPO1 c.302-3567A>G - IntronicSNV - 4/24
2-61763165-T-C XPO1 c.-7+1532A>G - intron_variant - 1/24
11-31346620-G-C DCDC1 c.164+3044C>G - IntronicSNV - 3/8
2-61763165-T-A XPO1 c.-7+1532A>T - intron_variant - 1/24
2-61688505-T-A USP34 c.43+9280A>T - IntronicSNV - 1/79
2-61688505-T-C USP34 c.43+9280A>G - IntronicSNV - 1/79
15-75308837-G-A SCAMP5 c.137-97G>A - IntronicSNV - 3/6
6-54022931-T-A MLIP c.685-2234T>A - IntronicSNV - 4/12
19-49207718-T-C FUT2 c.*473T>C - 3-UTRSNV 2/2 -
19-49207718-T-A FUT2 c.*473T>A - 3-UTRSNV 2/2 -
6-130384263-G-A L3MBTL3 c.864+2978G>A - IntronicSNV - 10/22
2-61694797-G-A USP34 c.43+2988C>T - IntronicSNV - 1/79
14-79899454-C-T NRXN3 c.248-34110C>T - IntronicSNV - 1/6
2-198964120-T-C PLCL1 c.2920-1889T>C - IntronicSNV - 3/5
10-21811487-G-A SKIDA1 c.-1928-1078C>T - intron_variant - 2/3
16-53798622-G-T FTO c.46-45430G>T - IntronicSNV - 1/8
2-61572322-C-T USP34 c.2286-1158G>A - IntronicSNV - 15/79
11-31330382-G-T DCDC1 c.165-927C>A - IntronicSNV - 3/8
2-61588070-T-A USP34 c.1251+9386A>T - IntronicSNV - 10/79
7-73016400-A-G MLXIPL c.902-2375T>C - IntronicSNV - 7/16
11-31331693-T-C DCDC1 c.165-2238A>G - IntronicSNV - 3/8
11-31330382-G-A DCDC1 c.165-927C>T - IntronicSNV - 3/8
2-61736652-A-T XPO1 c.302-7207T>A - IntronicSNV - 4/24
19-49254955-C-A FUT1 c.1-417G>T - IntronicSNV - 3/3
5-646418-G-A CEP72 c.1667-1502G>A - IntronicSNV - 10/11
19-49244220-G-A IZUMO1 c.998C>T p.Ala333Val Missense 10/10 -
19-49203829-C-T FUT2 c.1-2385C>T - IntronicSNV - 1/1
7-72878645-A-G BAZ1B c.3071+1124T>C - IntronicSNV - 11/19
10-22269847-T-C DNAJC1 c.222+22295A>G - IntronicSNV - 1/11
10-22269847-T-A DNAJC1 c.222+22295A>T - IntronicSNV - 1/11
5-684888-A-C TPPP c.1-6713T>G - IntronicSNV - 1/3
11-31326420-T-C DCDC1 c.754+742A>G - IntronicSNV - 6/8
6-53982560-T-C MLIP c.64-3685T>C - IntronicSNV - 1/12
6-53988852-A-T MLIP c.220-419A>T - IntronicSNV - 2/12
13-99119607-G-A STK24 c.634-792C>T - IntronicSNV - 5/10
14-79932823-C-G NRXN3 c.248-741C>G - IntronicSNV - 1/6
14-79932823-C-T NRXN3 c.248-741C>T - IntronicSNV - 1/6
19-49248255-G-A IZUMO1 c.310+216C>T - IntronicSNV - 3/9
15-75307148-G-A SCAMP5 c.137-1786G>A - IntronicSNV - 3/6
2-61741947-T-C XPO1 c.301+7799A>G - IntronicSNV - 4/24
2-61760141-C-G XPO1 c.126+766G>C - IntronicSNV - 2/24
19-49249312-C-A IZUMO1 c.1-196G>T - IntronicSNV 1/10 -
11-31293663-C-A DCDC1 c.961-6516G>T - IntronicSNV - 7/8
11-31293663-C-T DCDC1 c.961-6516G>A - IntronicSNV - 7/8
19-49206108-C-G FUT2 c.1-106C>G - IntronicSNV - 1/1
11-31593663-G-T ELP4 c.382-22654G>T - IntronicSNV - 3/9
14-79943606-C-T NRXN3 c.429+9861C>T - IntronicSNV - 2/6
2-27741105-A-G GCKR c.1423-550A>G - IntronicSNV - 16/18
6-54029152-G-C MLIP c.894+3555G>C - IntronicSNV - 7/12
1-72613608-G-A NEGR1 c.176+134394C>T - IntronicSNV - 1/6
6-54017126-T-G MLIP c.684+3201T>G - IntronicSNV - 4/12
2-27832055-A-G ZNF512 c.1131+1149A>G - IntronicSNV - 10/13
1-72613608-G-T NEGR1 c.176+134394C>A - IntronicSNV - 1/6
10-21847178-C-T MLLT10 c.240+19337C>T - IntronicSNV - 3/22
11-31288160-G-T DCDC1 c.961-1013C>A - IntronicSNV - 7/8
6-128676756-A-T PTPRK c.224-33301T>A - IntronicSNV - 2/30
10-21847178-C-G MLLT10 c.240+19337C>G - IntronicSNV - 3/22
5-667620-G-A TPPP c.312-1382C>T - IntronicSNV - 2/3
11-31399014-G-A DNAJC24 c.111+6608G>A - IntronicSNV - 2/4
5-623733-G-A CEP72 c.404-853G>A - IntronicSNV - 3/11
5-637277-A-G CEP72 c.905-355A>G - IntronicSNV - 6/11
2-61722904-C-T XPO1 c.889-156G>A - IntronicSNV - 10/24
5-667620-G-T TPPP c.312-1382C>A - IntronicSNV - 2/3
1-72583375-T-A NEGR1 c.176+164627A>T - IntronicSNV - 1/6
1-72583375-T-G NEGR1 c.176+164627A>C - IntronicSNV - 1/6
6-126669479-C-A CENPW c.241-133C>A - IntronicSNV - 2/2
16-53797908-C-G FTO c.46-46144C>G - IntronicSNV - 1/8
14-26943973-G-C NOVA1 c.448-2376C>G - IntronicSNV - 3/4
2-61756535-G-T XPO1 c.127-2879C>A - IntronicSNV - 2/24
7-72992350-C-T TBL2 c.130+400G>A - IntronicSNV - 1/6
2-61756535-G-A XPO1 c.127-2879C>T - IntronicSNV - 2/24
10-21908803-T-C MLLT10 c.699+2667T>C - IntronicSNV - 8/22
16-53799985-T-C FTO c.46-44067T>C - IntronicSNV - 1/8
19-49207206-A-G FUT2 c.993A>G p.Thr331Thr Synonymous 2/2 -
5-520263-G-A SLC9A3 c.211+3964C>T - IntronicSNV - 1/16
16-53799985-T-A FTO c.46-44067T>A - IntronicSNV - 1/8
10-22287722-T-C DNAJC1 c.222+4420A>G - IntronicSNV - 1/11
19-49228272-T-C RASIP1 c.2128-55A>G - IntronicSNV - 8/11
6-53971921-T-C MLIP c.64-14324T>C - IntronicSNV - 1/12
19-49249698-C-T IZUMO1 c.-80G>A - 5_prime_UTR_variant 1/10 -
11-31294231-T-C DCDC1 c.961-7084A>G - IntronicSNV - 7/8
10-22287722-T-A DNAJC1 c.222+4420A>T - IntronicSNV - 1/11
10-65336185-A-G REEP3 c.105+10015A>G - IntronicSNV - 2/7
16-53818167-T-C FTO c.46-25885T>C - IntronicSNV - 1/8
6-51494890-T-G PKHD1 c.11665+2473A>C - IntronicSNV - 65/66
16-53809123-C-T FTO c.46-34929C>T - IntronicSNV - 1/8
6-129396313-T-C LAMA2 c.396+15272T>C - IntronicSNV - 3/64
4-100239319-T-C ADH1B c.143A>G p.His48Arg Missense 3/9 -
10-22163935-A-G DNAJC1 c.978+7276T>C - IntronicSNV - 8/11
2-61762384-G-T XPO1 c.1-1352C>A - IntronicSNV - 1/24
2-61682178-A-C USP34 c.43+15607T>G - IntronicSNV - 1/79
14-79945162-A-G NRXN3 c.429+11417A>G - IntronicSNV - 2/6
16-53840525-C-G FTO c.46-3527C>G - IntronicSNV - 1/8
11-31434104-C-T DNAJC24 c.112-2254C>T - IntronicSNV - 2/4
3-27416013-C-T SLC4A7 c.*2242G>A - 3-UTRSNV 25/25 -
19-49247693-C-T IZUMO1 c.397+17G>A - IntronicSNV - 4/9
10-22062729-T-C DNAJC1 c.1099-7491A>G - IntronicSNV - 9/11
10-22062729-T-A DNAJC1 c.1099-7491A>T - IntronicSNV - 9/11
11-31334323-G-C DCDC1 c.165-4868C>G - IntronicSNV - 3/8
11-31334323-G-A DCDC1 c.165-4868C>T - IntronicSNV - 3/8
10-22218773-T-C DNAJC1 c.223-703A>G - IntronicSNV - 1/11
10-22164160-T-C DNAJC1 c.978+7051A>G - IntronicSNV - 8/11
7-72921609-T-C BAZ1B c.369+1048A>G - IntronicSNV - 3/19
11-31327316-C-T DCDC1 c.600G>A p.Glu200Glu Synonymous 6/9 -
5-660804-C-T TPPP c.*4413G>A - 3-UTRSNV 4/4 -
19-49246866-A-G IZUMO1 c.419-84T>C - IntronicSNV - 5/9
7-72971231-C-T BCL7B c.92+586G>A - IntronicSNV - 1/5
2-61653058-T-C USP34 c.44-5090A>G - IntronicSNV - 1/79
10-22111229-A-G DNAJC1 c.979-16201T>C - IntronicSNV - 8/11
11-31301392-C-A DCDC1 c.960+10802G>T - IntronicSNV - 7/8
19-49241400-C-T RASIP1 c.823+817G>A - IntronicSNV - 3/11
10-21883430-C-G MLLT10 c.296-830C>G - IntronicSNV - 4/22
11-31363949-C-T DCDC1 c.1-14122G>A - IntronicSNV - 1/8
5-148031051-C-G HTR4 c.-48+2574G>C - intron_variant - 1/6
5-148030409-A-C HTR4 c.-48+3216T>G - intron_variant - 1/6
10-22154237-C-G DNAJC1 c.978+16974G>C - IntronicSNV - 8/11
10-22111229-A-T DNAJC1 c.979-16201T>A - IntronicSNV - 8/11
11-31375072-T-A DCDC1 c.-125+16172A>T - intron_variant - 1/8
11-31375072-T-C DCDC1 c.-125+16172A>G - intron_variant - 1/8
19-49248120-A-G IZUMO1 c.311-324T>C - IntronicSNV - 3/9
16-53805207-C-A FTO c.46-38845C>A - IntronicSNV - 1/8
3-35723864-G-A ARPP21 c.130-476G>A - IntronicSNV - 2/4
1-72597654-T-A NEGR1 c.176+150348A>T - IntronicSNV - 1/6
11-31386165-A-G DCDC1 c.-125+5079T>C - intron_variant - 1/8
2-61670731-T-C USP34 c.44-22763A>G - IntronicSNV - 1/79
5-662547-T-C TPPP c.*2670A>G - 3-UTRSNV 4/4 -
10-22280429-A-G DNAJC1 c.222+11713T>C - IntronicSNV - 1/11
15-75328595-T-C PPCDC c.136-7187T>C - IntronicSNV - 2/5
10-65325126-G-C REEP3 c.33-972G>C - IntronicSNV - 1/7
13-99101583-C-A FARP1 c.*1012C>A - 3-UTRSNV 27/27 -
6-129964062-A-C ARHGAP18 c.114-899T>G - IntronicSNV - 1/14
6-128492003-G-A PTPRK c.1162+13574C>T - IntronicSNV - 7/30
5-645562-C-T CEP72 c.1666+1022C>T - IntronicSNV - 10/11
11-31324298-T-G DCDC1 c.754+2864A>C - IntronicSNV - 6/8
19-49247124-T-G IZUMO1 c.418+308A>C - IntronicSNV - 5/9
19-49259529-A-G FGF21 c.36A>G p.Gly12Gly Synonymous 2/4 -
10-65320006-A-T REEP3 c.33-6092A>T - IntronicSNV - 1/7
13-99105302-G-A STK24 c.*125C>T - 3-UTRSNV 11/11 -
2-61659199-G-T USP34 c.44-11231C>A - IntronicSNV - 1/79
14-27022042-G-A NOVA1 c.280+42574C>T - IntronicSNV - 2/4
2-61659199-G-C USP34 c.44-11231C>G - IntronicSNV - 1/79
2-61659199-G-A USP34 c.44-11231C>T - IntronicSNV - 1/79
6-54022931-T-C MLIP c.685-2234T>C - IntronicSNV - 4/12
2-68426624-G-A PPP3R1 c.44-10802C>T - IntronicSNV - 2/5
16-53806145-T-C FTO c.46-37907T>C - IntronicSNV - 1/8
13-99106979-C-G STK24 c.1296-1516G>C - IntronicSNV - 10/10
2-68445354-A-G PPP3R1 c.4-1091T>C - IntronicSNV - 1/5
7-73037366-G-A MLXIPL c.293+1164C>T - IntronicSNV - 1/16
13-99106979-C-A STK24 c.1296-1516G>T - IntronicSNV - 10/10
2-100929526-A-T LONRF2 c.680-3839T>A - IntronicSNV - 1/11
7-132525147-C-T CHCHD3 c.454-1918G>A - IntronicSNV - 5/7
14-26967518-C-T NOVA1 c.281-18169G>A - IntronicSNV - 2/4
11-31404484-G-A DNAJC24 c.111+12078G>A - IntronicSNV - 2/4
19-49248730-G-A IZUMO1 c.235+152C>T - IntronicSNV - 2/9
19-41354458-C-G CYP2A6 c.493+61G>C - IntronicSNV - 3/8
16-53821690-A-G FTO c.46-22362A>G - IntronicSNV - 1/8
5-662613-C-T TPPP c.*2604G>A - 3-UTRSNV 4/4 -
19-46180184-C-T GIPR c.634-23C>T - IntronicSNV - 7/13
6-54009376-T-C MLIP c.613-4478T>C - IntronicSNV - 3/12
5-148030961-C-A HTR4 c.-48+2664G>T - intron_variant - 1/6
2-68428283-G-A PPP3R1 c.44-12461C>T - IntronicSNV - 2/5
11-31315886-C-T DCDC1 c.755-3487G>A - IntronicSNV - 6/8
19-49207255-A-G FUT2 c.*10A>G - 3-UTRSNV 2/2 -
6-128636593-T-C PTPRK c.495+6591A>G - IntronicSNV - 3/30
2-61740646-C-T XPO1 c.301+9100G>A - IntronicSNV - 4/24
11-31534584-A-G ELP4 c.223+3030A>G - IntronicSNV - 1/9
19-49247900-G-A IZUMO1 c.311-104C>T - IntronicSNV - 3/9
19-41354458-C-A CYP2A6 c.493+61G>T - IntronicSNV - 3/8
5-148031051-C-T HTR4 c.-48+2574G>A - intron_variant - 1/6
16-53822237-A-G FTO c.46-21815A>G - IntronicSNV - 1/8
19-49241006-C-G RASIP1 c.823+1211G>C - IntronicSNV - 3/11
19-49241006-C-A RASIP1 c.823+1211G>T - IntronicSNV - 3/11
2-61655008-T-A USP34 c.44-7040A>T - IntronicSNV - 1/79
2-61655008-T-C USP34 c.44-7040A>G - IntronicSNV - 1/79
10-21907016-T-G MLLT10 c.699+880T>G - IntronicSNV - 8/22
1-54718770-T-G SSBP3 c.448-1237A>C - IntronicSNV - 6/16
10-21907016-T-C MLLT10 c.699+880T>C - IntronicSNV - 8/22
16-53830452-A-G FTO c.46-13600A>G - IntronicSNV - 1/8
5-618586-A-G CEP72 c.83-519A>G - IntronicSNV - 1/11
2-61681060-A-G USP34 c.43+16725T>C - IntronicSNV - 1/79
6-54023382-T-G MLIP c.685-1783T>G - IntronicSNV - 4/12
6-54023382-T-A MLIP c.685-1783T>A - IntronicSNV - 4/12
7-73007943-G-A MLXIPL c.*252C>T - 3-UTRSNV 17/17 -
7-73017657-C-T MLXIPL c.901+2361G>A - IntronicSNV - 7/16
2-61732159-T-C XPO1 c.302-2714A>G - IntronicSNV - 4/24
19-46179043-G-A GIPR c.633+959G>A - IntronicSNV - 7/13
16-53811788-A-G FTO c.46-32264A>G - IntronicSNV - 1/8
1-72590193-G-A NEGR1 c.176+157809C>T - IntronicSNV - 1/6
19-49208978-A-G FUT2 c.*1733A>G - 3-UTRSNV 2/2 -
2-61419103-C-A USP34 c.9588+933G>T - IntronicSNV - 76/79
14-26958210-T-G NOVA1 c.281-8861A>C - IntronicSNV - 2/4
14-27057492-T-A NOVA1 c.280+7124A>T - IntronicSNV - 2/4
11-31329373-C-T DCDC1 c.247G>A p.Val83Met Missense 4/9 -
6-53982630-G-A MLIP c.64-3615G>A - IntronicSNV - 1/12
2-61505072-C-G USP34 c.5433+228G>C - IntronicSNV - 41/79
14-26979193-T-G NOVA1 c.281-29844A>C - IntronicSNV - 2/4
10-65328518-C-T REEP3 c.105+2348C>T - IntronicSNV - 2/7
19-49208978-A-T FUT2 c.*1733A>T - 3-UTRSNV 2/2 -
14-27057492-T-C NOVA1 c.280+7124A>G - IntronicSNV - 2/4
14-27009199-A-C NOVA1 c.280+55417T>G - IntronicSNV - 2/4
10-65330208-T-C REEP3 c.105+4038T>C - IntronicSNV - 2/7
11-31329373-C-A DCDC1 c.247G>T p.Val83Leu Missense 4/9 -
19-49247601-C-T IZUMO1 c.397+109G>A - IntronicSNV - 4/9
10-22193422-T-C DNAJC1 c.820+29A>G - IntronicSNV - 7/11
6-51480486-G-T PKHD1 c.*3393C>A - 3-UTRSNV 67/67 -
10-65325126-G-A REEP3 c.33-972G>A - IntronicSNV - 1/7
2-61543081-T-C USP34 c.3283-972A>G - IntronicSNV - 23/79
10-65287064-A-T REEP3 c.32+5727A>T - IntronicSNV - 1/7
10-21911657-G-A MLLT10 c.699+5521G>A - IntronicSNV - 8/22
10-65321464-C-T REEP3 c.33-4634C>T - IntronicSNV - 1/7
2-68454685-C-A PPP3R1 c.4-10422G>T - IntronicSNV - 1/5
7-73029437-C-T MLXIPL c.400+964G>A - IntronicSNV - 2/16
2-68454685-C-T PPP3R1 c.4-10422G>A - IntronicSNV - 1/5
14-27056324-C-A NOVA1 c.280+8292G>T - IntronicSNV - 2/4
6-126666416-C-T CENPW c.127-935C>T - IntronicSNV - 1/2
11-31301147-G-A DCDC1 c.960+11047C>T - IntronicSNV - 7/8
2-166185240-A-G SCN2A c.2149+1746A>G - IntronicSNV - 13/26
16-53828066-C-T FTO c.46-15986C>T - IntronicSNV - 1/8
7-73016181-T-C MLXIPL c.902-2156A>G - IntronicSNV - 7/16
3-35722965-C-T ARPP21 c.1-279C>T - IntronicSNV - 1/4
6-129739008-C-T LAMA2 c.5866-9889C>T - IntronicSNV - 40/64
6-129739008-C-A LAMA2 c.5866-9889C>A - IntronicSNV - 40/64
1-54728858-C-T SSBP3 c.367-5036G>A - IntronicSNV - 5/16
5-645484-C-T CEP72 c.1666+944C>T - IntronicSNV - 10/11
22-24826672-T-C ADORA2A c.1-2701T>C - IntronicSNV - 1/2
11-31547227-G-T ELP4 c.259+5589G>T - IntronicSNV - 2/9
2-27741072-C-A GCKR c.1423-583C>A - IntronicSNV - 16/18
2-27731212-T-C GCKR c.1422+94T>C - IntronicSNV - 16/18
7-73026151-A-T MLXIPL c.401-4149T>A - IntronicSNV - 2/16
6-53986877-A-T MLIP c.219+477A>T - IntronicSNV - 2/12
19-49248640-A-G IZUMO1 c.236-95T>C - IntronicSNV - 2/9
1-72593767-C-T NEGR1 c.176+154235G>A - IntronicSNV - 1/6
11-31284798-G-A DCDC1 c.1055-178C>T - IntronicSNV - 8/8
2-61417617-A-G USP34 c.9729+36T>C - IntronicSNV - 77/79
16-53818813-A-G FTO c.46-25239A>G - IntronicSNV - 1/8
13-99100474-C-T FARP1 c.3057-16C>T - IntronicSNV - 26/26
6-128433666-C-G PTPRK c.1163-22529G>C - IntronicSNV - 7/30
6-53988535-A-G MLIP c.220-736A>G - IntronicSNV - 2/12
11-31775396-T-C ELP4 c.1144-29545T>C - IntronicSNV - 9/9
13-67380168-G-A PCDH9 c.3138+97468C>T - IntronicSNV - 3/4
3-27487705-C-T SLC4A7 c.262+2437G>A - IntronicSNV - 3/24
11-31775396-T-A ELP4 c.1144-29545T>A - IntronicSNV - 9/9
16-53845487-C-A FTO c.123+1358C>A - IntronicSNV - 2/8
16-53845487-C-G FTO c.123+1358C>G - IntronicSNV - 2/8
2-61606866-G-A USP34 c.1014+438C>T - IntronicSNV - 7/79
10-22088054-A-T DNAJC1 c.1098+6855T>A - IntronicSNV - 9/11
16-53822502-T-G FTO c.46-21550T>G - IntronicSNV - 1/8
19-49241015-C-T RASIP1 c.823+1202G>A - IntronicSNV - 3/11
2-61583128-A-C USP34 c.1252-5300T>G - IntronicSNV - 10/79
1-72614077-G-T NEGR1 c.176+133925C>A - IntronicSNV - 1/6
10-65340897-G-T REEP3 c.106-13641G>T - IntronicSNV - 2/7
5-148031190-T-C HTR4 c.-48+2435A>G - intron_variant - 1/6
5-148031190-T-A HTR4 c.-48+2435A>T - intron_variant - 1/6
10-22124263-C-T DNAJC1 c.979-29235G>A - IntronicSNV - 8/11
7-73026378-C-T MLXIPL c.400+4023G>A - IntronicSNV - 2/16
7-73026378-C-A MLXIPL c.400+4023G>T - IntronicSNV - 2/16
6-129627809-C-T LAMA2 c.3174+5792C>T - IntronicSNV - 22/64
19-49244219-C-T IZUMO1 c.999G>A p.Ala333Ala Synonymous 10/10 -
14-27043304-T-G NOVA1 c.280+21312A>C - IntronicSNV - 2/4
2-166193407-A-T SCN2A c.2388+5329A>T - IntronicSNV - 14/26
2-166193407-A-C SCN2A c.2388+5329A>C - IntronicSNV - 14/26
13-99103317-T-C STK24 c.*2110A>G - 3-UTRSNV 11/11 -
11-31499705-G-A IMMP1L c.-92-4372C>T - intron_variant - 1/6
11-31318244-A-G DCDC1 c.755-5845T>C - IntronicSNV - 6/8
11-31335146-T-G DCDC1 c.165-5691A>C - IntronicSNV - 3/8
14-79890456-G-A NRXN3 c.248-43108G>A - IntronicSNV - 1/6
19-49206145-G-C FUT2 c.1-69G>C - IntronicSNV - 1/1
16-53821615-A-G FTO c.46-22437A>G - IntronicSNV - 1/8
19-49254955-C-T FUT1 c.1-417G>A - IntronicSNV - 3/3
13-99120272-C-G STK24 c.634-1457G>C - IntronicSNV - 5/10
16-53827962-A-G FTO c.46-16090A>G - IntronicSNV - 1/8
19-49239053-T-C RASIP1 c.824-245A>G - IntronicSNV - 3/11
2-61743377-C-G XPO1 c.301+6369G>C - IntronicSNV - 4/24
10-22149410-A-T DNAJC1 c.978+21801T>A - IntronicSNV - 8/11
1-204587047-G-A LRRN2 c.2074C>T p.Pro692Ser Missense 3/3 -
2-61585295-C-G USP34 c.1252-7467G>C - IntronicSNV - 10/79
16-53827479-A-G FTO c.46-16573A>G - IntronicSNV - 1/8
16-53803187-A-T FTO c.46-40865A>T - IntronicSNV - 1/8
19-49229525-T-C RASIP1 c.2127+517A>G - IntronicSNV - 8/11
11-31320530-A-T DCDC1 c.754+6632T>A - IntronicSNV - 6/8
19-49207257-T-C FUT2 c.*12T>C - 3-UTRSNV 2/2 -
5-672593-C-T TPPP c.311+5272G>A - IntronicSNV - 2/3
2-61749472-G-A XPO1 c.301+274C>T - IntronicSNV - 4/24
14-79939525-C-T NRXN3 c.429+5780C>T - IntronicSNV - 2/6
19-49249888-G-A IZUMO1 c.-270C>T - 5_prime_UTR_variant 1/10 -
7-72873420-A-G BAZ1B c.3432+446T>C - IntronicSNV - 13/19
2-27853245-C-G GPN1 c.205+426C>G - intron_variant - 2/13
13-99119307-C-G STK24 c.634-492G>C - IntronicSNV - 5/10
2-27801493-T-C C2orf16 c.2054T>C p.Val685Ala Missense 1/1 -
13-99120272-C-T STK24 c.634-1457G>A - IntronicSNV - 5/10
11-31386150-C-T DCDC1 c.-125+5094G>A - intron_variant - 1/8
19-49253261-A-G FUT1 c.*180T>C - 3-UTRSNV 4/4 -
10-22149410-A-G DNAJC1 c.978+21801T>C - IntronicSNV - 8/11
1-204587047-G-T LRRN2 c.2074C>A p.Pro692Thr Missense 3/3 -
17-8054860-C-A PER1 c.1-836G>T - IntronicSNV - 1/22
19-49225766-A-T RASIP1 c.2545-508T>A - IntronicSNV - 10/11
5-640728-G-C CEP72 c.1539+9G>C - IntronicSNV - 9/11
6-54022441-C-G MLIP c.685-2724C>G - IntronicSNV - 4/12
11-31300793-T-G DCDC1 c.960+11401A>C - IntronicSNV - 7/8
10-22241656-T-C DNAJC1 c.223-23586A>G - IntronicSNV - 1/11
10-22241656-T-G DNAJC1 c.223-23586A>C - IntronicSNV - 1/11
2-61694797-G-C USP34 c.43+2988C>G - IntronicSNV - 1/79
2-61757721-G-T XPO1 c.126+3186C>A - IntronicSNV - 2/24
16-53810943-C-T FTO c.46-33109C>T - IntronicSNV - 1/8
11-31796560-A-G ELP4 c.1144-8381A>G - IntronicSNV - 9/9
16-53814363-G-T FTO c.46-29689G>T - IntronicSNV - 1/8
2-61694797-G-T USP34 c.43+2988C>A - IntronicSNV - 1/79
2-27734972-G-A GCKR c.1422+3854G>A - IntronicSNV - 16/18
2-61713526-C-A XPO1 c.2314-429G>T - IntronicSNV - 19/24
2-61682976-C-T USP34 c.43+14809G>A - IntronicSNV - 1/79
19-49241976-A-G RASIP1 c.823+241T>C - IntronicSNV - 3/11
5-148034040-C-G HTR4 c.-463G>C - 5_prime_UTR_variant 1/7 -
10-22114427-A-T DNAJC1 c.979-19399T>A - IntronicSNV - 8/11
19-49239200-G-A RASIP1 c.824-392C>T - IntronicSNV - 3/11
2-61761637-G-A XPO1 c.1-605C>T - IntronicSNV - 1/24
16-53799905-A-G FTO c.46-44147A>G - IntronicSNV - 1/8
19-49207554-C-T FUT2 c.*309C>T - 3-UTRSNV 2/2 -
2-61552145-C-T USP34 c.3013+365G>A - IntronicSNV - 21/79
5-676546-A-G TPPP c.311+1319T>C - IntronicSNV - 2/3
5-148034040-C-T HTR4 c.-463G>A - 5_prime_UTR_variant 1/7 -
19-49259529-A-T FGF21 c.36A>T p.Gly12Gly Synonymous 2/4 -
19-49253389-C-T FUT1 c.*52G>A - 3-UTRSNV 4/4 -
15-75292074-C-T SCAMP5 c.-49+4060C>T - intron_variant - 1/6
7-132492133-T-G CHCHD3 c.525-10795A>C - IntronicSNV - 6/7
7-132492133-T-A CHCHD3 c.525-10795A>T - IntronicSNV - 6/7
2-61551435-T-C USP34 c.3013+1075A>G - IntronicSNV - 21/79
11-31424823-T-C DNAJC24 c.112-11535T>C - IntronicSNV - 2/4
10-65308750-A-T REEP3 c.33-17348A>T - IntronicSNV - 1/7
2-61713526-C-G XPO1 c.2314-429G>C - IntronicSNV - 19/24
7-73032265-G-C MLXIPL c.294-1758C>G - IntronicSNV - 1/16
1-54717726-A-G SSBP3 c.448-193T>C - IntronicSNV - 6/16
1-54717726-A-T SSBP3 c.448-193T>A - IntronicSNV - 6/16
11-31800874-G-T ELP4 c.1144-4067G>T - IntronicSNV - 9/9
1-54717726-A-C SSBP3 c.448-193T>G - IntronicSNV - 6/16
10-21876939-C-T MLLT10 c.295+1662C>T - IntronicSNV - 4/22
10-21876939-C-A MLLT10 c.295+1662C>A - IntronicSNV - 4/22
2-61729695-A-C XPO1 c.302-250T>G - IntronicSNV - 4/24
10-22245299-C-A DNAJC1 c.223-27229G>T - IntronicSNV - 1/11
5-665671-C-T TPPP c.466-260G>A - IntronicSNV - 3/3
5-619815-C-T CEP72 c.211-369C>T - IntronicSNV - 2/11
2-61552145-C-G USP34 c.3013+365G>C - IntronicSNV - 21/79
2-61552145-C-A USP34 c.3013+365G>T - IntronicSNV - 21/79
2-27851918-G-A GPN1 c.-8G>A - 5_prime_UTR_variant 1/14 -
7-72991704-G-A TBL2 c.130+1046C>T - IntronicSNV - 1/6
11-31329938-A-G DCDC1 c.165-483T>C - IntronicSNV - 3/8
7-72991704-G-C TBL2 c.130+1046C>G - IntronicSNV - 1/6
10-65340897-G-A REEP3 c.106-13641G>A - IntronicSNV - 2/7
13-99113471-G-C STK24 c.1089+557C>G - IntronicSNV - 8/10
6-53989526-G-A MLIP c.475G>A p.Val159Ile Missense 3/13 -
2-61524679-C-T USP34 c.4129-619G>A - IntronicSNV - 29/79
7-73034030-A-G MLXIPL c.294-3523T>C - IntronicSNV - 1/16
6-53986928-T-C MLIP c.219+528T>C - IntronicSNV - 2/12
6-53986928-T-A MLIP c.219+528T>A - IntronicSNV - 2/12
2-166208049-A-G SCN2A c.2920-2653A>G - IntronicSNV - 16/26
2-61691440-T-C USP34 c.43+6345A>G - IntronicSNV - 1/79
16-53822183-C-T FTO c.46-21869C>T - IntronicSNV - 1/8
7-72970268-T-G BCL7B c.92+1549A>C - IntronicSNV - 1/5
7-72970268-T-A BCL7B c.92+1549A>T - IntronicSNV - 1/5
10-65325478-G-A REEP3 c.33-620G>A - IntronicSNV - 1/7
10-22148230-T-C DNAJC1 c.978+22981A>G - IntronicSNV - 8/11
2-61709349-C-T XPO1 c.2972+166G>A - IntronicSNV - 23/24
2-61709349-C-A XPO1 c.2972+166G>T - IntronicSNV - 23/24
10-22148230-T-A DNAJC1 c.978+22981A>T - IntronicSNV - 8/11
11-31309813-A-G DCDC1 c.960+2381T>C - IntronicSNV - 7/8
2-61670829-G-A USP34 c.44-22861C>T - IntronicSNV - 1/79
16-53831146-C-T FTO c.46-12906C>T - IntronicSNV - 1/8
5-676423-G-A TPPP c.311+1442C>T - IntronicSNV - 2/3
13-99117149-G-A STK24 c.820-1059C>T - IntronicSNV - 6/10
6-54013765-A-G MLIP c.613-89A>G - IntronicSNV - 3/12
10-65321147-C-A REEP3 c.33-4951C>A - IntronicSNV - 1/7
7-72866616-A-T BAZ1B c.3433-1292T>A - IntronicSNV - 13/19
6-129731970-G-C LAMA2 c.5865+6866G>C - IntronicSNV - 40/64
2-68417219-G-T PPP3R1 c.44-1397C>A - IntronicSNV - 2/5
16-53815435-T-C FTO c.46-28617T>C - IntronicSNV - 1/8
6-129381483-T-G LAMA2 c.396+442T>G - IntronicSNV - 3/64
2-68415767-G-A PPP3R1 c.99C>T p.Asp33Asp Synonymous 3/6 -
2-61755728-G-C XPO1 c.127-2072C>G - IntronicSNV - 2/24
10-21894028-A-G MLLT10 c.406-7249A>G - IntronicSNV - 5/22
2-61755728-G-A XPO1 c.127-2072C>T - IntronicSNV - 2/24
10-22138400-A-T DNAJC1 c.978+32811T>A - IntronicSNV - 8/11
14-27045778-T-C NOVA1 c.280+18838A>G - IntronicSNV - 2/4
1-54729803-G-A SSBP3 c.367-5981C>T - IntronicSNV - 5/16
3-27427225-A-G SLC4A7 c.3465+158T>C - IntronicSNV - 23/24
7-73037956-A-G MLXIPL c.293+574T>C - IntronicSNV - 1/16
6-54021179-C-A MLIP c.685-3986C>A - IntronicSNV - 4/12
1-54714126-C-T SSBP3 c.591+3163G>A - IntronicSNV - 8/16
11-31363111-T-A DCDC1 c.1-13284A>T - IntronicSNV - 1/8
11-31363111-T-C DCDC1 c.1-13284A>G - IntronicSNV - 1/8
2-61505072-C-T USP34 c.5433+228G>A - IntronicSNV - 41/79
10-22244804-A-T DNAJC1 c.223-26734T>A - IntronicSNV - 1/11
1-72590865-G-A NEGR1 c.176+157137C>T - IntronicSNV - 1/6
19-49237547-G-A RASIP1 c.1179+906C>T - IntronicSNV - 4/11
19-49224389-T-C RASIP1 c.2693-135A>G - IntronicSNV - 11/11
11-31791099-G-A ELP4 c.1144-13842G>A - IntronicSNV - 9/9
16-53799977-T-C FTO c.46-44075T>C - IntronicSNV - 1/8
16-53799977-T-G FTO c.46-44075T>G - IntronicSNV - 1/8
2-61668769-C-G USP34 c.44-20801G>C - IntronicSNV - 1/79
19-49248022-A-C IZUMO1 c.311-226T>G - IntronicSNV - 3/9
2-61668769-C-A USP34 c.44-20801G>T - IntronicSNV - 1/79
13-99102449-C-T FARP1 c.*1878C>T - IntergenicSNV 27/27 -
2-61651027-C-T USP34 c.44-3059G>A - IntronicSNV - 1/79
10-21915619-T-A MLLT10 c.699+9483T>A - IntronicSNV - 8/22
10-22239952-G-A DNAJC1 c.223-21882C>T - IntronicSNV - 1/11
5-668842-C-T TPPP c.312-2604G>A - IntronicSNV - 2/3
2-61615763-C-T USP34 c.754-5292G>A - IntronicSNV - 5/79
14-27051498-A-G NOVA1 c.280+13118T>C - IntronicSNV - 2/4
10-22156961-C-T DNAJC1 c.978+14250G>A - IntronicSNV - 8/11
14-27051498-A-T NOVA1 c.280+13118T>A - IntronicSNV - 2/4
2-61731112-G-A XPO1 c.302-1667C>T - IntronicSNV - 4/24
5-685849-G-A TPPP c.-5+7544C>T - intron_variant - 1/3
16-53819367-G-A FTO c.46-24685G>A - IntronicSNV - 1/8
14-26981079-G-A NOVA1 c.281-31730C>T - IntronicSNV - 2/4
19-49234299-A-T RASIP1 c.1180-1452T>A - IntronicSNV - 4/11
6-54013765-A-T MLIP c.613-89A>T - IntronicSNV - 3/12
2-61436930-A-T USP34 c.8841-818T>A - IntronicSNV - 69/79
13-99120484-T-C STK24 c.634-1669A>G - IntronicSNV - 5/10
11-31357208-C-A DCDC1 c.1-7381G>T - IntronicSNV - 1/8
2-27854524-G-A GPN1 c.246-177G>A - intron_variant - 3/13
10-21902587-T-A MLLT10 c.510-1173T>A - IntronicSNV - 6/22
5-670909-G-A TPPP c.312-4671C>T - IntronicSNV - 2/3
2-28066122-T-C RBKS c.350-24A>G - IntronicSNV - 4/7
10-65328740-T-A REEP3 c.105+2570T>A - IntronicSNV - 2/7
16-53819198-G-A FTO c.46-24854G>A - IntronicSNV - 1/8
16-53819198-G-C FTO c.46-24854G>C - IntronicSNV - 1/8
10-22280664-A-T DNAJC1 c.222+11478T>A - IntronicSNV - 1/11
11-31344898-T-C DCDC1 c.164+4766A>G - IntronicSNV - 3/8
7-73035857-T-C MLXIPL c.293+2673A>G - IntronicSNV - 1/16
2-68445569-G-A PPP3R1 c.4-1306C>T - IntronicSNV - 1/5
2-68417219-G-A PPP3R1 c.44-1397C>T - IntronicSNV - 2/5
16-53800200-C-T FTO c.46-43852C>T - IntronicSNV - 1/8
2-61571295-G-C USP34 c.2286-131C>G - IntronicSNV - 15/79
10-65330195-T-A REEP3 c.105+4025T>A - IntronicSNV - 2/7
10-65338753-C-G REEP3 c.105+12583C>G - IntronicSNV - 2/7
10-65338753-C-T REEP3 c.105+12583C>T - IntronicSNV - 2/7
2-61444998-G-C USP34 c.8047+2447C>G - IntronicSNV - 67/79
2-61747123-A-T XPO1 c.301+2623T>A - IntronicSNV - 4/24
2-61747123-A-C XPO1 c.301+2623T>G - IntronicSNV - 4/24
11-31336977-A-C DCDC1 c.165-7522T>G - IntronicSNV - 3/8
11-31336977-A-T DCDC1 c.165-7522T>A - IntronicSNV - 3/8
6-129364595-T-C LAMA2 c.113-6468T>C - IntronicSNV - 1/64
16-53828752-A-G FTO c.46-15300A>G - IntronicSNV - 1/8
16-53813367-T-G FTO c.46-30685T>G - IntronicSNV - 1/8
16-53813367-T-A FTO c.46-30685T>A - IntronicSNV - 1/8
16-53801343-C-A FTO c.46-42709C>A - IntronicSNV - 1/8
5-662613-C-G TPPP c.*2604G>C - 3-UTRSNV 4/4 -
5-677348-T-C TPPP c.311+517A>G - IntronicSNV - 2/3
16-53801343-C-T FTO c.46-42709C>T - IntronicSNV - 1/8
16-53822142-C-A FTO c.46-21910C>A - IntronicSNV - 1/8
16-53822142-C-T FTO c.46-21910C>T - IntronicSNV - 1/8
16-53806280-C-G FTO c.46-37772C>G - IntronicSNV - 1/8
16-53822651-A-G FTO c.46-21401A>G - IntronicSNV - 1/8
16-53822651-A-T FTO c.46-21401A>T - IntronicSNV - 1/8
2-61735569-C-A XPO1 c.302-6124G>T - IntronicSNV - 4/24
2-61735569-C-T XPO1 c.302-6124G>A - IntronicSNV - 4/24
2-61619267-T-G USP34 c.753+2721A>C - IntronicSNV - 5/79
19-49236102-T-C RASIP1 c.1179+2351A>G - IntronicSNV - 4/11
16-53801985-C-T FTO c.46-42067C>T - IntronicSNV - 1/8
19-46180414-G-T GIPR c.793+48G>T - IntronicSNV - 8/13
2-61716924-G-C XPO1 c.2022+853C>G - IntronicSNV - 17/24
14-26972984-T-C NOVA1 c.281-23635A>G - IntronicSNV - 2/4
2-27833502-T-C ZNF512 c.1131+2596T>C - IntronicSNV - 10/13
5-619815-C-G CEP72 c.211-369C>G - IntronicSNV - 2/11
10-22243072-G-A DNAJC1 c.223-25002C>T - IntronicSNV - 1/11
10-22243072-G-C DNAJC1 c.223-25002C>G - IntronicSNV - 1/11
6-51480486-G-C PKHD1 c.*3393C>G - 3-UTRSNV 67/67 -
16-53823727-T-C FTO c.46-20325T>C - IntronicSNV - 1/8
2-27825715-T-C ZNF512 c.768+287T>C - IntronicSNV - 8/13
10-22231670-A-G DNAJC1 c.223-13600T>C - IntronicSNV - 1/11
2-100929526-A-G LONRF2 c.680-3839T>C - IntronicSNV - 1/11
19-46199363-G-C QPCTL c.633+387G>C - IntronicSNV - 3/6
14-79936964-T-C NRXN3 c.429+3219T>C - IntronicSNV - 2/6
19-46199363-G-A QPCTL c.633+387G>A - IntronicSNV - 3/6
2-61457148-G-A USP34 c.7114-380C>T - IntronicSNV - 58/79
11-31295440-A-G DCDC1 c.961-8293T>C - IntronicSNV - 7/8
5-665148-A-G TPPP c.*69T>C - 3-UTRSNV 4/4 -
6-53992259-T-C MLIP c.612+2596T>C - IntronicSNV - 3/12
5-614291-C-T CEP72 c.82+1733C>T - IntronicSNV - 1/11
2-166208424-A-T SCN2A c.2920-2278A>T - IntronicSNV - 16/26
2-166208424-A-G SCN2A c.2920-2278A>G - IntronicSNV - 16/26
6-54029152-G-T MLIP c.894+3555G>T - IntronicSNV - 7/12
10-21883430-C-T MLLT10 c.296-830C>T - IntronicSNV - 4/22
10-65337141-T-C REEP3 c.105+10971T>C - IntronicSNV - 2/7
13-67376616-C-G PCDH9 c.3138+101020G>C - IntronicSNV - 3/4
7-73016862-T-C MLXIPL c.902-2837A>G - IntronicSNV - 7/16
19-49218111-G-T MAMSTR c.171C>A p.Pro57Pro Synonymous 4/8 -
19-49218111-G-C MAMSTR c.171C>G p.Pro57Pro Synonymous 4/8 -
19-49218111-G-A MAMSTR c.171C>T p.Pro57Pro Synonymous 4/8 -
10-22123768-A-T DNAJC1 c.979-28740T>A - IntronicSNV - 8/11
2-61540687-A-G USP34 c.3542+1033T>C - IntronicSNV - 25/79
14-27056252-C-T NOVA1 c.280+8364G>A - IntronicSNV - 2/4
11-31355524-A-T DCDC1 c.-7+1470T>A - intron_variant - 2/8
10-22285371-C-T DNAJC1 c.222+6771G>A - IntronicSNV - 1/11
16-53804965-T-C FTO c.46-39087T>C - IntronicSNV - 1/8
16-53804965-T-A FTO c.46-39087T>A - IntronicSNV - 1/8
5-671826-A-T TPPP c.312-5588T>A - IntronicSNV - 2/3
2-27821482-C-A ZNF512 c.277+361C>A - IntronicSNV - 3/13
2-61729258-A-G XPO1 c.364-83T>C - IntronicSNV - 5/24
2-27913188-T-C SLC4A1AP c.2271+1554T>C - IntronicSNV - 12/13
15-75330159-T-A PPCDC c.136-5623T>A - IntronicSNV - 2/5
15-75330159-T-G PPCDC c.136-5623T>G - IntronicSNV - 2/5
6-53995504-C-A MLIP c.612+5841C>A - IntronicSNV - 3/12
11-31630811-C-T ELP4 c.653+5357C>T - IntronicSNV - 5/9
6-53995504-C-T MLIP c.612+5841C>T - IntronicSNV - 3/12
7-72911843-T-C BAZ1B c.571+984A>G - IntronicSNV - 4/19
10-64914372-G-T NRBF2 c.*394G>T - 3-UTRSNV 4/4 -
10-64914372-G-C NRBF2 c.*394G>C - 3-UTRSNV 4/4 -
10-65314971-A-G REEP3 c.33-11127A>G - IntronicSNV - 1/7
11-31348937-A-G DCDC1 c.164+727T>C - IntronicSNV - 3/8
1-54718770-T-C SSBP3 c.448-1237A>G - IntronicSNV - 6/16
10-22284140-T-G DNAJC1 c.222+8002A>C - IntronicSNV - 1/11
10-22233793-A-T DNAJC1 c.223-15723T>A - IntronicSNV - 1/11
11-31348937-A-T DCDC1 c.164+727T>A - IntronicSNV - 3/8
6-51480853-T-C PKHD1 c.*3026A>G - 3-UTRSNV 67/67 -
5-148033473-C-A HTR4 c.-48+152G>T - intron_variant - 1/6
7-72921609-T-G BAZ1B c.369+1048A>C - IntronicSNV - 3/19
2-61512321-A-T USP34 c.4750-229T>A - IntronicSNV - 34/79
2-61682178-A-G USP34 c.43+15607T>C - IntronicSNV - 1/79
10-22027644-G-A MLLT10 c.2956-1315G>A - IntronicSNV - 21/22
16-53840525-C-T FTO c.46-3527C>T - IntronicSNV - 1/8
6-53982990-A-C MLIP c.64-3255A>C - IntronicSNV - 1/12
13-99100547-T-C FARP1 c.3114T>C p.Ser1038Ser Synonymous 27/27 -
2-61740646-C-G XPO1 c.301+9100G>C - IntronicSNV - 4/24
11-31324298-T-C DCDC1 c.754+2864A>G - IntronicSNV - 6/8
19-49247124-T-A IZUMO1 c.418+308A>T - IntronicSNV - 5/9
1-72593174-G-A NEGR1 c.176+154828C>T - IntronicSNV - 1/6
1-72593174-G-T NEGR1 c.176+154828C>A - IntronicSNV - 1/6
2-61740646-C-A XPO1 c.301+9100G>T - IntronicSNV - 4/24
11-31595437-A-T ELP4 c.382-20880A>T - IntronicSNV - 3/9
11-31595437-A-G ELP4 c.382-20880A>G - IntronicSNV - 3/9
3-27487705-C-A SLC4A7 c.262+2437G>T - IntronicSNV - 3/24
6-129732318-G-C LAMA2 c.5865+7214G>C - IntronicSNV - 40/64
2-61747355-G-A XPO1 c.301+2391C>T - IntronicSNV - 4/24
19-49247601-C-G IZUMO1 c.397+109G>C - IntronicSNV - 4/9
5-681279-G-C TPPP c.1-3104C>G - IntronicSNV - 1/3
2-61676940-C-T USP34 c.43+20845G>A - IntronicSNV - 1/79
10-21829162-T-C MLLT10 c.240+1321T>C - IntronicSNV - 3/22
10-21911657-G-C MLLT10 c.699+5521G>C - IntronicSNV - 8/22
16-53803156-G-A FTO c.46-40896G>A - IntronicSNV - 1/8
7-73013901-C-T MLXIPL c.1026G>A p.Pro342Pro Synonymous 8/17 -
7-73013901-C-G MLXIPL c.1026G>C p.Pro342Pro Synonymous 8/17 -
14-27043723-G-C NOVA1 c.280+20893C>G - IntronicSNV - 2/4
19-49227043-G-A RASIP1 c.2544+551C>T - IntronicSNV - 10/11
1-54728858-C-G SSBP3 c.367-5036G>C - IntronicSNV - 5/16
14-79940383-G-T NRXN3 c.429+6638G>T - IntronicSNV - 2/6
19-49261368-T-C FGF21 c.521T>C p.Leu174Pro Missense 4/4 -
19-49261368-T-A FGF21 c.521T>A p.Leu174His Missense 4/4 -
14-27043723-G-A NOVA1 c.280+20893C>T - IntronicSNV - 2/4
16-53834608-G-A FTO c.46-9444G>A - IntronicSNV - 1/8
11-31326752-G-T DCDC1 c.754+410C>A - IntronicSNV - 6/8
10-22124263-C-A DNAJC1 c.979-29235G>T - IntronicSNV - 8/11
14-79942647-G-A NRXN3 c.429+8902G>A - IntronicSNV - 2/6
11-31327766-G-A DCDC1 c.591+13C>T - IntronicSNV - 5/8
19-49248295-G-A IZUMO1 c.310+176C>T - IntronicSNV - 3/9
8-143361458-G-A TSNARE1 c.1363+4316C>T - IntronicSNV - 11/13
2-61604856-A-T USP34 c.1076+642T>A - IntronicSNV - 8/79
8-143361458-G-C TSNARE1 c.1363+4316C>G - IntronicSNV - 11/13
11-31306248-C-T DCDC1 c.960+5946G>A - IntronicSNV - 7/8
2-61604856-A-G USP34 c.1076+642T>C - IntronicSNV - 8/79
2-61737990-A-T XPO1 c.302-8545T>A - IntronicSNV - 4/24
2-27839369-T-C ZNF512 c.1296+178T>C - IntronicSNV - 12/13
16-53822387-C-T FTO c.46-21665C>T - IntronicSNV - 1/8
2-27801759-A-G C2orf16 c.2320A>G p.Ile774Val Missense 1/1 -
5-148031074-T-G HTR4 c.-48+2551A>C - intron_variant - 1/6
10-65317045-G-C REEP3 c.33-9053G>C - IntronicSNV - 1/7
10-65317045-G-T REEP3 c.33-9053G>T - IntronicSNV - 1/7
2-61440947-T-G USP34 c.8682+248A>C - IntronicSNV - 68/79
2-61440947-T-C USP34 c.8682+248A>G - IntronicSNV - 68/79
11-31565012-A-T ELP4 c.381+3682A>T - IntronicSNV - 3/9
16-53842908-G-A FTO c.46-1144G>A - IntronicSNV - 1/8
14-26939332-T-C NOVA1 c.*338A>G - 3-UTRSNV 5/5 -
2-61677137-C-G USP34 c.43+20648G>C - IntronicSNV - 1/79
16-53800629-C-G FTO c.46-43423C>G - IntronicSNV - 1/8
2-68426291-T-C PPP3R1 c.44-10469A>G - IntronicSNV - 2/5
16-53834607-T-C FTO c.46-9445T>C - IntronicSNV - 1/8
2-61742654-C-T XPO1 c.301+7092G>A - IntronicSNV - 4/24
19-49224966-A-C RASIP1 c.2692+145T>G - IntronicSNV - 11/11
1-204587569-G-A LRRN2 c.1552C>T p.Leu518Phe Missense 3/3 -
1-204587569-G-C LRRN2 c.1552C>G p.Leu518Val Missense 3/3 -
19-49244219-C-A IZUMO1 c.999G>T p.Ala333Ala Synonymous 10/10 -
4-100239319-T-G ADH1B c.143A>C p.His48Pro Missense 3/9 -
7-72863249-T-G BAZ1B c.3728+623A>C - IntronicSNV - 15/19
11-31414151-G-A DNAJC24 c.111+21745G>A - IntronicSNV - 2/4
6-54048682-A-C MLIP c.940-5986A>C - IntronicSNV - 8/12
2-61742654-C-G XPO1 c.301+7092G>C - IntronicSNV - 4/24
5-677239-T-C TPPP c.311+626A>G - IntronicSNV - 2/3
6-126664333-C-A CENPW c.126+2788C>A - IntronicSNV - 1/2
6-126664333-C-T CENPW c.126+2788C>T - IntronicSNV - 1/2
2-166190881-A-T SCN2A c.2388+2803A>T - IntronicSNV - 14/26
19-49233406-C-A RASIP1 c.1180-559G>T - IntronicSNV - 4/11
2-61668769-C-T USP34 c.44-20801G>A - IntronicSNV - 1/79
10-65314711-G-C REEP3 c.33-11387G>C - IntronicSNV - 1/7
10-65314711-G-A REEP3 c.33-11387G>A - IntronicSNV - 1/7
10-22137880-A-C DNAJC1 c.978+33331T>G - IntronicSNV - 8/11
11-31565012-A-G ELP4 c.381+3682A>G - IntronicSNV - 3/9
2-166200881-A-G SCN2A c.2563-184A>G - IntronicSNV - 15/26
6-54048682-A-T MLIP c.940-5986A>T - IntronicSNV - 8/12
10-22147799-C-T DNAJC1 c.978+23412G>A - IntronicSNV - 8/11
16-53819169-T-C FTO c.46-24883T>C - IntronicSNV - 1/8
2-28085544-C-A RBKS c.90-4106G>T - IntronicSNV - 1/7
10-22154208-T-C DNAJC1 c.978+17003A>G - IntronicSNV - 8/11
7-72863249-T-C BAZ1B c.3728+623A>G - IntronicSNV - 15/19
11-31329373-C-G DCDC1 c.247G>C p.Val83Leu Missense 4/9 -
10-65315800-G-T REEP3 c.33-10298G>T - IntronicSNV - 1/7
2-27686480-A-G IFT172 c.1938-432T>C - IntronicSNV - 18/47
19-49207792-G-A FUT2 c.*547G>A - 3-UTRSNV 2/2 -
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19
6-127519234-C-A RSPO3 c.*2082C>A - 3-UTRSNV 5/5 -
10-22241988-C-T DNAJC1 c.223-23918G>A - IntronicSNV - 1/11
5-684483-C-T TPPP c.1-6308G>A - IntronicSNV - 1/3
10-22083051-T-A DNAJC1 c.1098+11858A>T - IntronicSNV - 9/11
10-22083051-T-C DNAJC1 c.1098+11858A>G - IntronicSNV - 9/11
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
1-72586208-C-T NEGR1 c.176+161794G>A - IntronicSNV - 1/6
6-53986503-A-T MLIP c.219+103A>T - IntronicSNV - 2/12
2-61571513-T-C USP34 c.2286-349A>G - IntronicSNV - 15/79
10-22245923-T-G DNAJC1 c.223-27853A>C - IntronicSNV - 1/11
10-22245923-T-C DNAJC1 c.223-27853A>G - IntronicSNV - 1/11
6-54010651-A-T MLIP c.613-3203A>T - IntronicSNV - 3/12
2-61458518-C-T USP34 c.7113+1069G>A - IntronicSNV - 58/79
2-27892023-A-T SLC4A1AP c.1206-92A>T - IntronicSNV - 4/13
2-68426527-T-A PPP3R1 c.44-10705A>T - IntronicSNV - 2/5
2-68426527-T-G PPP3R1 c.44-10705A>C - IntronicSNV - 2/5
7-73034929-C-T MLXIPL c.293+3601G>A - IntronicSNV - 1/16
6-54022700-A-G MLIP c.685-2465A>G - IntronicSNV - 4/12
6-54022700-A-T MLIP c.685-2465A>T - IntronicSNV - 4/12
14-27056324-C-T NOVA1 c.280+8292G>A - IntronicSNV - 2/4
14-27056324-C-G NOVA1 c.280+8292G>C - IntronicSNV - 2/4
16-53810686-T-C FTO c.46-33366T>C - IntronicSNV - 1/8
10-22240299-C-T DNAJC1 c.223-22229G>A - IntronicSNV - 1/11
16-30119525-C-A GDPD3 c.819+9G>T - IntronicSNV - 9/9
16-53813450-A-T FTO c.46-30602A>T - IntronicSNV - 1/8
6-53994626-T-G MLIP c.612+4963T>G - IntronicSNV - 3/12
19-49206985-G-A FUT2 c.772G>A p.Gly258Ser Missense 2/2 -
7-72922233-A-G BAZ1B c.369+424T>C - IntronicSNV - 3/19
13-99117685-A-G STK24 c.819+945T>C - IntronicSNV - 6/10
13-99113471-G-T STK24 c.1089+557C>A - IntronicSNV - 8/10
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
5-628294-G-A CEP72 c.512+3600G>A - IntronicSNV - 4/11
13-99117685-A-T STK24 c.819+945T>A - IntronicSNV - 6/10
19-49237552-A-C RASIP1 c.1179+901T>G - IntronicSNV - 4/11
19-49237552-A-G RASIP1 c.1179+901T>C - IntronicSNV - 4/11
10-65301725-T-C REEP3 c.32+20388T>C - IntronicSNV - 1/7
14-27043304-T-A NOVA1 c.280+21312A>T - IntronicSNV - 2/4
19-49247786-G-A IZUMO1 c.321C>T p.Phe107Phe Synonymous 4/10 -
2-27743215-A-G GCKR c.1572+1411A>G - IntronicSNV - 17/18
14-79910119-C-T NRXN3 c.248-23445C>T - IntronicSNV - 1/6
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
2-61613785-C-A USP34 c.754-3314G>T - IntronicSNV - 5/79
19-18652844-A-G FKBP8 c.1-64T>C - IntronicSNV - 1/8
2-61613785-C-G USP34 c.754-3314G>C - IntronicSNV - 5/79
2-27821482-C-G ZNF512 c.277+361C>G - IntronicSNV - 3/13
7-73017005-A-G MLXIPL c.902-2980T>C - IntronicSNV - 7/16
10-65315231-A-G REEP3 c.33-10867A>G - IntronicSNV - 1/7
6-129377264-G-T LAMA2 c.284-3665G>T - IntronicSNV - 2/64
7-72988069-C-T TBL2 c.446+199G>A - IntronicSNV - 3/6
5-637107-C-T CEP72 c.905-525C>T - IntronicSNV - 6/11
2-61681428-G-C USP34 c.43+16357C>G - IntronicSNV - 1/79
13-99113166-A-C STK24 c.1090-472T>G - IntronicSNV - 8/10
13-99116384-T-C STK24 c.820-294A>G - IntronicSNV - 6/10
7-24966590-G-A OSBPL3 c.1-34499C>T - IntronicSNV - 1/22
11-31622534-C-T ELP4 c.514-2781C>T - IntronicSNV - 4/9
6-53978817-T-G MLIP c.64-7428T>G - IntronicSNV - 1/12
1-72597051-A-G NEGR1 c.176+150951T>C - IntronicSNV - 1/6
2-61749716-C-T XPO1 c.301+30G>A - IntronicSNV - 4/24
2-61749690-C-T XPO1 c.301+56G>A - IntronicSNV - 4/24
2-61749690-C-A XPO1 c.301+56G>T - IntronicSNV - 4/24
16-29926471-T-C KCTD13 c.415-3101A>G - IntronicSNV - 2/5
7-73032835-T-C MLXIPL c.294-2328A>G - IntronicSNV - 1/16
1-72577177-G-A NEGR1 c.176+170825C>T - IntronicSNV - 1/6
11-31304847-C-T DCDC1 c.960+7347G>A - IntronicSNV - 7/8
2-61661417-G-A USP34 c.44-13449C>T - IntronicSNV - 1/79
10-65287064-A-C REEP3 c.32+5727A>C - IntronicSNV - 1/7
11-31444646-G-T DNAJC24 c.251-3188G>T - IntronicSNV - 3/4
2-166198219-G-A SCN2A c.2389-587G>A - IntronicSNV - 14/26
10-65287064-A-G REEP3 c.32+5727A>G - IntronicSNV - 1/7
19-49218437-A-C MAMSTR c.116+82T>G - IntronicSNV - 3/7
10-21889083-G-T MLLT10 c.405+4714G>T - IntronicSNV - 5/22
2-61458206-A-C USP34 c.7113+1381T>G - IntronicSNV - 58/79
14-26979412-T-A NOVA1 c.281-30063A>T - IntronicSNV - 2/4
13-99105395-G-A STK24 c.*32C>T - 3-UTRSNV 11/11 -
14-26979412-T-C NOVA1 c.281-30063A>G - IntronicSNV - 2/4
1-72613917-C-T NEGR1 c.176+134085G>A - IntronicSNV - 1/6
7-73012785-A-G MLXIPL c.1072-742T>C - IntronicSNV - 8/16
10-65333648-C-A REEP3 c.105+7478C>A - IntronicSNV - 2/7
7-72983310-A-T TBL2 c.*1527T>A - 3-UTRSNV 7/7 -
7-72971531-C-G BCL7B c.92+286G>C - IntronicSNV - 1/5
14-79891882-G-A NRXN3 c.248-41682G>A - IntronicSNV - 1/6
13-99102607-C-T STK24 c.*2820G>A - 3-UTRSNV 11/11 -
13-99102607-C-A STK24 c.*2820G>T - 3-UTRSNV 11/11 -
13-99130423-T-C STK24 c.367-2811A>G - IntronicSNV - 3/10
10-65338304-A-G REEP3 c.105+12134A>G - IntronicSNV - 2/7
2-61729268-T-C XPO1 c.364-93A>G - IntronicSNV - 5/24
10-21824619-A-G MLLT10 c.160+886A>G - IntronicSNV - 2/22
6-127657040-C-A ECHDC1 c.1-4867G>T - IntronicSNV - 1/5
11-31312897-G-C DCDC1 c.755-498C>G - IntronicSNV - 6/8
6-54070858-C-G MLIP c.1113+3827C>G - IntronicSNV - 10/12
13-99130423-T-G STK24 c.367-2811A>C - IntronicSNV - 3/10
7-72896395-A-C BAZ1B c.892-3496T>G - IntronicSNV - 6/19
2-61564249-A-C USP34 c.2744+2237T>G - IntronicSNV - 18/79
14-26950513-C-A NOVA1 c.281-1164G>T - IntronicSNV - 2/4
16-53818460-G-T FTO c.46-25592G>T - IntronicSNV - 1/8
11-31784451-T-C ELP4 c.1144-20490T>C - IntronicSNV - 9/9
19-46181392-G-C GIPR c.1060G>C p.Glu354Gln Missense 12/14 -
2-166214250-G-A SCN2A c.3399+3069G>A - IntronicSNV - 17/26
10-22239952-G-C DNAJC1 c.223-21882C>G - IntronicSNV - 1/11
10-21878407-C-T MLLT10 c.295+3130C>T - IntronicSNV - 4/22
6-53986877-A-G MLIP c.219+477A>G - IntronicSNV - 2/12
10-21849769-G-A MLLT10 c.240+21928G>A - IntronicSNV - 3/22
11-31561850-G-A ELP4 c.381+520G>A - IntronicSNV - 3/9
19-49249795-C-T IZUMO1 c.-177G>A - 5_prime_UTR_variant 1/10 -
10-22154237-C-A DNAJC1 c.978+16974G>T - IntronicSNV - 8/11
2-166193445-G-A SCN2A c.2389-5361G>A - IntronicSNV - 14/26
1-54730036-G-A SSBP3 c.367-6214C>T - IntronicSNV - 5/16
1-54726362-A-G SSBP3 c.367-2540T>C - IntronicSNV - 5/16
1-72603400-C-G NEGR1 c.176+144602G>C - IntronicSNV - 1/6
1-72603400-C-A NEGR1 c.176+144602G>T - IntronicSNV - 1/6
1-54728864-G-C SSBP3 c.367-5042C>G - IntronicSNV - 5/16
10-21885577-A-C MLLT10 c.405+1208A>C - IntronicSNV - 5/22
2-68426902-A-C PPP3R1 c.44-11080T>G - IntronicSNV - 2/5
11-31689453-G-A ELP4 c.1143+17684G>A - IntronicSNV - 9/9
10-21859585-A-T MLLT10 c.241-15638A>T - IntronicSNV - 3/22
10-21859585-A-G MLLT10 c.241-15638A>G - IntronicSNV - 3/22
11-31309818-G-A DCDC1 c.960+2376C>T - IntronicSNV - 7/8
2-61740825-A-G XPO1 c.301+8921T>C - IntronicSNV - 4/24
14-79937216-T-A NRXN3 c.429+3471T>A - IntronicSNV - 2/6
2-61753786-C-T XPO1 c.127-130G>A - IntronicSNV - 2/24
14-27045778-T-A NOVA1 c.280+18838A>T - IntronicSNV - 2/4
10-65336373-G-A REEP3 c.105+10203G>A - IntronicSNV - 2/7
10-22156961-C-G DNAJC1 c.978+14250G>C - IntronicSNV - 8/11
7-73034929-C-A MLXIPL c.293+3601G>T - IntronicSNV - 1/16
16-53831354-C-T FTO c.46-12698C>T - IntronicSNV - 1/8
2-61720497-T-A XPO1 c.1246-309A>T - IntronicSNV - 12/24
5-640728-G-A CEP72 c.1539+9G>A - IntronicSNV - 9/11
2-61747123-A-G XPO1 c.301+2623T>C - IntronicSNV - 4/24
16-53831771-G-T FTO c.46-12281G>T - IntronicSNV - 1/8
19-49218602-C-T MAMSTR c.33G>A p.Ala11Ala Synonymous 3/8 -
6-54021056-T-C MLIP c.685-4109T>C - IntronicSNV - 4/12
19-49208564-C-T FUT2 c.*1319C>T - 3-UTRSNV 2/2 -
6-54021056-T-A MLIP c.685-4109T>A - IntronicSNV - 4/12
1-72583763-G-A NEGR1 c.176+164239C>T - IntronicSNV - 1/6
5-677152-G-A TPPP c.311+713C>T - IntronicSNV - 2/3
10-22233087-C-T DNAJC1 c.223-15017G>A - IntronicSNV - 1/11
2-61616055-G-A USP34 c.754-5584C>T - IntronicSNV - 5/79
6-53960803-G-A MLIP c.64-25442G>A - IntronicSNV - 1/12
11-31336977-A-G DCDC1 c.165-7522T>C - IntronicSNV - 3/8
16-30439309-T-C DCTPP1 c.212+1069A>G - IntronicSNV - 2/2
16-30439309-T-A DCTPP1 c.212+1069A>T - IntronicSNV - 2/2
7-73033559-G-A MLXIPL c.294-3052C>T - IntronicSNV - 1/16
14-27051340-A-T NOVA1 c.280+13276T>A - IntronicSNV - 2/4
10-21885577-A-T MLLT10 c.405+1208A>T - IntronicSNV - 5/22
6-53977911-A-T MLIP c.64-8334A>T - IntronicSNV - 1/12
10-21896820-C-T MLLT10 c.406-4457C>T - IntronicSNV - 5/22
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
13-99119279-G-A STK24 c.634-464C>T - IntronicSNV - 5/10
5-660804-C-G TPPP c.*4413G>C - 3-UTRSNV 4/4 -
11-31357208-C-T DCDC1 c.1-7381G>A - IntronicSNV - 1/8
6-53994626-T-C MLIP c.612+4963T>C - IntronicSNV - 3/12
2-61620989-C-T USP34 c.753+999G>A - IntronicSNV - 5/79
16-53800954-T-C FTO c.46-43098T>C - IntronicSNV - 1/8
7-72870207-A-G BAZ1B c.3432+3659T>C - IntronicSNV - 13/19
5-643028-T-G CEP72 c.1540-1386T>G - IntronicSNV - 9/11
2-61688727-T-C USP34 c.43+9058A>G - IntronicSNV - 1/79
10-22240299-C-A DNAJC1 c.223-22229G>T - IntronicSNV - 1/11
10-22284140-T-C DNAJC1 c.222+8002A>G - IntronicSNV - 1/11
2-61688727-T-A USP34 c.43+9058A>T - IntronicSNV - 1/79
10-65333648-C-T REEP3 c.105+7478C>T - IntronicSNV - 2/7
13-99119000-T-G STK24 c.634-185A>C - IntronicSNV - 5/10
2-61555421-A-G USP34 c.2931-2829T>C - IntronicSNV - 20/79
2-61618574-T-G USP34 c.753+3414A>C - IntronicSNV - 5/79
5-639231-C-A CEP72 c.1234C>A p.Pro412Thr Missense 8/12 -
2-61618574-T-C USP34 c.753+3414A>G - IntronicSNV - 5/79
7-73013269-T-C MLXIPL c.1071+587A>G - IntronicSNV - 8/16
7-72893403-A-G BAZ1B c.892-504T>C - IntronicSNV - 6/19
6-129381472-C-T LAMA2 c.396+431C>T - IntronicSNV - 3/64
6-54019288-A-G MLIP c.684+5363A>G - IntronicSNV - 4/12
14-79854885-T-C NRXN3 c.248-78679T>C - IntronicSNV - 1/6
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
19-49206462-C-T FUT2 c.249C>T p.Tyr83Tyr Synonymous 2/2 -
19-49206462-C-A FUT2 c.249C>A p.Tyr83* Nonsense 2/2 -
19-49208629-G-C FUT2 c.*1384G>C - 3-UTRSNV 2/2 -
2-61743377-C-T XPO1 c.301+6369G>A - IntronicSNV - 4/24
14-27038915-T-G NOVA1 c.280+25701A>C - IntronicSNV - 2/4
14-27038915-T-C NOVA1 c.280+25701A>G - IntronicSNV - 2/4
2-61619588-G-A USP34 c.753+2400C>T - IntronicSNV - 5/79
2-68434157-T-A PPP3R1 c.43+10067A>T - IntronicSNV - 2/5
15-75297907-C-G SCAMP5 c.1-6274C>G - IntronicSNV - 1/6
11-31366453-T-G DCDC1 c.-124-9342A>C - intron_variant - 1/8
6-130414164-A-G L3MBTL3 c.1633+160A>G - IntronicSNV - 17/22
1-204586812-C-T LRRN2 c.*167G>A - 3-UTRSNV 3/3 -
10-65333648-C-G REEP3 c.105+7478C>G - IntronicSNV - 2/7
2-68434157-T-C PPP3R1 c.43+10067A>G - IntronicSNV - 2/5
11-31351715-T-G DCDC1 c.1-1888A>C - IntronicSNV - 1/8
5-148031512-C-T HTR4 c.-48+2113G>A - intron_variant - 1/6
14-26996510-C-T NOVA1 c.281-47161G>A - IntronicSNV - 2/4
10-22230474-C-A DNAJC1 c.223-12404G>T - IntronicSNV - 1/11
5-87561765-T-C TMEM161B c.3+2773A>G - IntronicSNV - 1/11
6-126661858-C-T CENPW c.126+313C>T - IntronicSNV - 1/2
10-64904071-A-G NRBF2 c.31-1898A>G - IntronicSNV - 1/3
2-27742603-T-C GCKR c.1572+799T>C - IntronicSNV - 17/18
11-31345574-G-C DCDC1 c.164+4090C>G - IntronicSNV - 3/8
14-26945366-C-G NOVA1 c.448-3769G>C - IntronicSNV - 3/4
14-26945366-C-T NOVA1 c.448-3769G>A - IntronicSNV - 3/4
14-26945366-C-A NOVA1 c.448-3769G>T - IntronicSNV - 3/4
2-27741072-C-G GCKR c.1423-583C>G - IntronicSNV - 16/18
7-73018524-T-C MLXIPL c.901+1494A>G - IntronicSNV - 7/16
1-72586209-A-G NEGR1 c.176+161793T>C - IntronicSNV - 1/6
7-72984780-T-C TBL2 c.*57A>G - 3-UTRSNV 7/7 -
2-166227490-A-C SCN2A c.3849+681A>C - IntronicSNV - 20/26
19-49249443-A-T IZUMO1 c.-74+249T>A - intron_variant - 1/9
10-22276819-A-C DNAJC1 c.222+15323T>G - IntronicSNV - 1/11
2-61554289-G-C USP34 c.2931-1697C>G - IntronicSNV - 20/79
16-53821297-T-C FTO c.46-22755T>C - IntronicSNV - 1/8
6-54020121-C-T MLIP c.685-5044C>T - IntronicSNV - 4/12
19-49229323-G-C RASIP1 c.2127+719C>G - IntronicSNV - 8/11
19-49229323-G-A RASIP1 c.2127+719C>T - IntronicSNV - 8/11