PMID: 23028602

Lactase persistence and lipid pathway selection in the Maasai.

PloS one
K Wagh, A Bhatia, G Alexe, A Reddy, V Ravikumar, M Seiler, M Boemo, M Yao, L Cronk, A Naqvi, S Ganesan, AJ Levine, G Bhanot
2012

1098 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-117618713-G-A DSCAML1 c.511+28793C>T - intron_variant - 3/32
14-51552586-T-C TRIM9 c.822+8250A>G - IntronicSNV - 1/9
2-136310803-G-C R3HDM1 c.-250+21600G>C - intron_variant - 1/25
2-136462661-C-T R3HDM1 c.2355-4342C>T - IntronicSNV - 20/25
2-136226626-C-T ZRANB3 c.161+35273G>A - IntronicSNV - 2/20
12-56565392-T-G SMARCC2 c.2185+71A>C - IntronicSNV - 21/29
2-136556480-G-A LCT c.4867-772C>T - IntronicSNV - 12/16
18-33721325-C-T ELP2 c.588+161C>T - IntronicSNV - 6/21
2-135369095-A-G TMEM163 c.323-59433T>C - IntronicSNV - 2/7
17-35309848-A-C AATF c.284-338A>C - IntronicSNV - 2/11
2-197978625-G-T ANKRD44 c.907-3057C>A - IntronicSNV - 8/9
6-132012886-T-G ENPP3 c.1285-1751T>G - IntronicSNV - 14/24
7-42084273-T-G GLI3 c.826+710A>C - IntronicSNV - 6/14
7-42084273-T-A GLI3 c.826+710A>T - IntronicSNV - 6/14
7-42084273-T-C GLI3 c.826+710A>G - IntronicSNV - 6/14
2-135167653-T-C MGAT5 c.1531-2787T>C - IntronicSNV - 11/15
22-45398758-G-A PHF21B c.120+5668C>T - IntronicSNV - 2/12
22-45398758-G-C PHF21B c.120+5668C>G - IntronicSNV - 2/12
13-110413817-G-A IRS2 c.4013-5162C>T - IntronicSNV - 1/1
2-200142591-T-A SATB2 c.1741-5196A>T - IntronicSNV - 11/11
2-136467119-C-T R3HDM1 c.2458+13C>T - IntronicSNV - 21/25
6-33745071-C-T LEMD2 c.1157-55G>A - IntronicSNV - 6/8
4-66452949-C-A EPHA5 c.910+14410G>T - IntronicSNV - 3/17
1-92548348-G-A BTBD8 c.149+2071G>A - IntronicSNV - 1/8
2-136335397-A-G R3HDM1 c.1-27019A>G - IntronicSNV - 1/25
6-109910058-A-G AK9 c.1843-2783T>C - IntronicSNV - 17/40
19-6363493-T-C CLPP c.367+940T>C - IntronicSNV - 3/5
2-136068890-C-G ZRANB3 c.966+2169G>C - IntronicSNV - 8/20
11-4098252-G-A STIM1 c.969+2343G>A - IntronicSNV - 7/11
20-58305084-C-T PHACTR3 c.119-13078C>T - IntronicSNV - 1/12
6-109904031-C-A AK9 c.2114+2295G>T - IntronicSNV - 19/40
12-54417525-G-A HOXC4 c.-124+6327G>A - intron_variant - 1/3
4-173739244-C-T GALNTL6 c.923+4370C>T - IntronicSNV - 7/12
7-139442176-A-G HIPK2 c.20-25362T>C - intron_variant - 1/14
2-200142591-T-C SATB2 c.1741-5196A>G - IntronicSNV - 11/11
9-129970439-A-C RALGPS1 c.1248-3971A>C - IntronicSNV - 14/18
9-129970439-A-T RALGPS1 c.1248-3971A>T - IntronicSNV - 14/18
22-35779635-T-G HMOX1 c.144+416T>G - IntronicSNV - 2/4
2-135395863-T-C TMEM163 c.322+74907A>G - IntronicSNV - 2/7
12-56629276-A-C SLC39A5 c.805-68A>C - IntronicSNV - 7/12
5-82998981-A-T HAPLN1 c.-27+17627T>A - intron_variant - 1/4
20-17581431-A-G DSTN c.1A>G p.Met1Val Missense - 2/4
10-45891189-A-G ALOX5 c.350-114A>G - IntronicSNV - 2/13
2-136511817-A-G UBXN4 c.303A>G p.Glu101Glu Synonymous 4/13 -
4-66494645-A-T EPHA5 c.246+14436T>A - IntronicSNV - 2/17
5-115887466-G-C SEMA6A c.-39+22415C>G - intron_variant - 1/18
9-123675133-C-G TRAF1 c.705+473G>C - IntronicSNV - 5/7
4-66494645-A-G EPHA5 c.246+14436T>C - IntronicSNV - 2/17
12-109569068-A-G ACACB c.1-8143A>G - IntergenicSNV - 1/52
11-35969132-C-T LDLRAD3 c.46+3438C>T - IntronicSNV - 1/5
10-45799592-A-G OR13A1 c.279T>C p.Ser93Ser Synonymous 4/4 -
2-135693537-C-G CCNT2 c.241-874C>G - IntronicSNV - 2/8
2-136575534-T-A LCT c.1084A>T p.Ile362Phe Missense 6/17 -
5-132107051-G-T SEPT8 c.30+5749C>A - IntronicSNV - 1/9
19-47700860-A-G SAE1 c.878+226A>G - IntronicSNV - 7/8
2-136719173-A-G DARS c.218-105T>C - IntronicSNV - 3/15
15-72885874-A-G ARIH1 c.*10241A>G - IntergenicSNV 14/14 -
12-56565392-T-A SMARCC2 c.2185+71A>T - IntronicSNV - 21/29
5-169321575-A-T DOCK2 c.2799+53719A>T - IntronicSNV - 27/51
16-31283472-T-C ITGAM c.704+159T>C - IntronicSNV - 7/29
9-35369422-A-G UNC13B c.1215-893A>G - IntronicSNV - 11/38
2-197976089-G-A ANKRD44 c.907-521C>T - IntronicSNV - 8/9
2-136005971-G-A ZRANB3 c.1539+17133C>T - IntronicSNV - 12/20
2-135436366-A-C TMEM163 c.322+34404T>G - IntronicSNV - 2/7
12-54418920-G-C HOXC4 c.-124+7722G>C - intron_variant - 1/3
2-136005971-G-T ZRANB3 c.1539+17133C>A - IntronicSNV - 12/20
14-78043929-G-A SPTLC2 c.483-671C>T - IntronicSNV - 3/11
17-27839029-A-G TAOK1 c.1704+1019A>G - IntronicSNV - 15/19
2-135414882-C-T TMEM163 c.322+55888G>A - IntronicSNV - 2/7
2-135956095-C-T ZRANB3 c.*1817G>A - IntergenicSNV 21/21 -
22-23618804-G-A BCR c.2115+2843G>A - IntronicSNV - 8/22
5-132103271-G-A SEPT8 c.31-2050C>T - IntronicSNV - 1/9
2-163137983-T-C IFIH1 c.1379A>G p.His460Arg Missense 7/16 -
5-132103271-G-C SEPT8 c.31-2050C>G - IntronicSNV - 1/9
5-33646823-A-G ADAMTS12 c.1479+2104T>C - IntronicSNV - 9/23
5-33646823-A-C ADAMTS12 c.1479+2104T>G - IntronicSNV - 9/23
2-136081193-G-A ZRANB3 c.678-8093C>T - IntronicSNV - 6/20
3-40559078-G-A ZNF620 c.*724G>A - 3-UTRSNV 5/5 -
3-40559078-G-C ZNF620 c.*724G>C - 3-UTRSNV 5/5 -
5-32128179-A-G GOLPH3 c.473-1437T>C - IntronicSNV - 3/3
2-136561557-G-A LCT c.4606C>T p.Leu1536Leu Synonymous 11/17 -
17-70692820-A-C SLC39A11 c.692+39969T>G - IntronicSNV - 7/9
5-137872056-A-G ETF1 c.86+6466T>C - IntronicSNV - 2/10
2-136219999-C-T ZRANB3 c.161+41900G>A - IntronicSNV - 2/20
2-135454032-T-A TMEM163 c.322+16738A>T - IntronicSNV - 2/7
5-115167896-T-C ATG12 c.364-336A>G - IntronicSNV - 3/3
5-115167896-T-A ATG12 c.364-336A>T - IntronicSNV - 3/3
2-135736138-C-G MAP3K19 c.3920+2253G>C - IntronicSNV - 9/9
2-136072179-G-A ZRANB3 c.849+750C>T - IntronicSNV - 7/20
2-135839805-C-T RAB3GAP1 c.151-8763C>T - IntronicSNV - 3/23
2-135736138-C-T MAP3K19 c.3920+2253G>A - IntronicSNV - 9/9
20-7905947-T-C HAO1 c.289+9184A>G - IntronicSNV - 2/7
20-7905947-T-A HAO1 c.289+9184A>T - IntronicSNV - 2/7
17-72687624-T-C RAB37 c.72+19827T>C - IntronicSNV - 1/8
7-42071698-T-C GLI3 c.1029-5687A>G - IntronicSNV - 7/14
2-135967575-G-A ZRANB3 c.2496-1027C>T - IntronicSNV - 17/20
12-56603834-G-C RNF41 c.362+247C>G - IntronicSNV - 4/6
5-14743455-G-T ANKH c.916-1424C>A - IntronicSNV - 7/11
2-136396300-T-C R3HDM1 c.942-9T>C - IntronicSNV - 12/25
1-151699473-T-C RIIAD1 c.162-578T>C - IntronicSNV - 2/4
2-135439189-A-G TMEM163 c.322+31581T>C - IntronicSNV - 2/7
22-33258015-T-C TIMP3 c.*2651T>C - 3-UTRSNV 5/5 -
4-78530068-A-G CXCL13 c.197+1079A>G - IntronicSNV - 3/4
5-132111043-G-A SEPT8 c.30+1757C>T - IntronicSNV - 1/9
1-198692364-T-C PTPRC c.1720+759T>C - IntronicSNV - 15/32
5-115885858-C-T SEMA6A c.-39+24023G>A - intron_variant - 1/18
12-102006992-C-T MYBPC1 c.26-1282C>T - IntronicSNV - 1/29
12-45100151-G-A NELL2 c.1190-2514C>T - IntronicSNV - 12/20
1-240742905-G-T GREM2 c.-2+32279C>A - intron_variant - 1/1
4-159464732-A-G RXFP1 c.49+21555A>G - IntronicSNV - 1/17
22-34178537-T-A LARGE1 c.1-21074A>T - IntronicSNV - 1/14
22-34178537-T-C LARGE1 c.1-21074A>G - IntronicSNV - 1/14
7-99436198-G-A CYP3A43 c.166-102G>A - IntronicSNV - 2/9
2-135357203-G-C TMEM163 c.323-47541C>G - IntronicSNV - 2/7
6-51732598-G-A PKHD1 c.7733+63C>T - IntronicSNV - 48/66
12-79299323-C-T SYT1 c.-217+40434C>T - intron_variant - 1/10
12-71526414-T-C TSPAN8 c.576+59A>G - IntronicSNV - 7/8
2-135117507-T-C MGAT5 c.1247-2339T>C - IntronicSNV - 9/15
2-135927428-T-C RAB3GAP1 c.*1077T>C - 3-UTRSNV 24/24 -
12-56726518-G-A PAN2 c.282+79C>T - IntronicSNV - 2/25
12-56726518-G-C PAN2 c.282+79C>G - IntronicSNV - 2/25
2-136151774-C-T ZRANB3 c.162-3384G>A - IntronicSNV - 2/20
7-42072584-C-T GLI3 c.1029-6573G>A - IntronicSNV - 7/14
11-21537221-C-T NELL1 c.1646-18699C>T - IntronicSNV - 15/19
22-32828343-T-C BPIFC c.1149+17A>G - IntronicSNV - 10/14
2-135386581-C-T TMEM163 c.323-76919G>A - IntronicSNV - 2/7
1-9068386-G-A SLC2A7 c.1117-942C>T - IntronicSNV - 9/11
22-32828343-T-G BPIFC c.1149+17A>C - IntronicSNV - 10/14
5-14741603-G-A ANKH c.1011+333C>T - IntronicSNV - 8/11
5-132033612-C-T KIF3A c.2052-1238G>A - IntronicSNV - 16/16
4-42490680-A-C ATP8A1 c.2152-2995T>G - IntronicSNV - 24/36
5-132093649-T-C SEPT8 c.1286+2845A>G - IntronicSNV - 9/9
2-135762429-C-G MAP3K19 c.235+576G>C - IntronicSNV - 3/9
2-135454032-T-C TMEM163 c.322+16738A>G - IntronicSNV - 2/7
6-137059166-T-C MAP3K5 c.449-17439A>G - IntronicSNV - 1/29
12-54420098-C-T HOXC4 c.-124+8900C>T - intron_variant - 1/3
2-135714156-G-A CCNT2 c.*1938G>A - 3-UTRSNV 9/9 -
1-161975975-G-A OLFML2B c.723+112C>T - IntronicSNV - 4/7
6-35357974-A-G PPARD c.1-20891A>G - IntronicSNV - 2/7
2-136688749-G-A DARS c.564+1604C>T - IntronicSNV - 7/15
9-123675133-C-T TRAF1 c.705+473G>A - IntronicSNV - 5/7
2-136721995-T-C DARS c.218-2927A>G - IntronicSNV - 3/15
6-109853446-A-G AK9 c.3570+1008T>C - IntronicSNV - 28/40
3-10526523-C-G ATP2B2 c.-320+20626G>C - intron_variant - 1/19
2-135962711-T-C ZRANB3 c.3010-2178A>G - IntronicSNV - 19/20
2-136361560-A-G R3HDM1 c.1-856A>G - IntronicSNV - 2/25
5-169284171-T-C DOCK2 c.2799+16315T>C - IntronicSNV - 27/51
21-16413658-G-C NRIP1 c.-458+2158C>G - intron_variant - 2/3
6-109853446-A-T AK9 c.3570+1008T>A - IntronicSNV - 28/40
2-88423510-A-T FABP1 c.333+503T>A - IntronicSNV - 3/3
7-42078947-A-C GLI3 c.1028+690T>G - IntronicSNV - 7/14
7-42078947-A-G GLI3 c.1028+690T>C - IntronicSNV - 7/14
2-136107839-G-A ZRANB3 c.360-54C>T - IntronicSNV - 4/20
2-136107286-T-C ZRANB3 c.591+268A>G - IntronicSNV - 5/20
10-50339278-A-G FAM170B c.*380T>C - 3-UTRSNV 2/2 -
3-191929784-C-T FGF12 c.415-41339G>A - IntronicSNV - 3/4
10-50339278-A-T FAM170B c.*380T>A - 3-UTRSNV 2/2 -
17-19287476-T-G MFAP4 c.*299A>C - 3-UTRSNV 6/6 -
4-39586775-T-A SMIM14 c.76-12692A>T - IntronicSNV - 2/4
12-71532099-G-A TSPAN8 c.262-89C>T - IntronicSNV - 4/8
2-101594858-T-C NPAS2 c.1482+597T>C - IntronicSNV - 15/20
4-126262415-A-G FAT4 c.5175+19674A>G - IntronicSNV - 1/16
2-136506927-A-C UBXN4 c.185+988A>C - IntronicSNV - 2/12
2-135203537-A-G MGAT5 c.2028-2683A>G - IntronicSNV - 15/15
2-135878814-G-A RAB3GAP1 c.748+326G>A - IntronicSNV - 8/23
2-136228887-C-T ZRANB3 c.161+33012G>A - IntronicSNV - 2/20
10-626782-G-T DIP2C c.86-94312C>A - IntronicSNV - 1/36
2-136151412-C-T ZRANB3 c.162-3022G>A - IntronicSNV - 2/20
2-135872646-C-A RAB3GAP1 c.483-140C>A - IntronicSNV - 6/23
10-626782-G-A DIP2C c.86-94312C>T - IntronicSNV - 1/36
10-626782-G-C DIP2C c.86-94312C>G - IntronicSNV - 1/36
2-135963304-T-G ZRANB3 c.3009+1700A>C - IntronicSNV - 19/20
2-135963304-T-A ZRANB3 c.3009+1700A>T - IntronicSNV - 19/20
2-136089758-T-G ZRANB3 c.677+13362A>C - IntronicSNV - 6/20
2-136324225-A-G R3HDM1 c.-250+35022A>G - intron_variant - 1/25
2-136089758-T-C ZRANB3 c.677+13362A>G - IntronicSNV - 6/20
5-179580169-T-C RASGEF1C c.1-15117A>G - IntronicSNV - 1/13
20-37447919-A-T PPP1R16B c.-102+13484A>T - intron_variant - 1/10
16-13316427-G-A SHISA9 c.895+9270G>A - IntronicSNV - 4/4
20-37447919-A-G PPP1R16B c.-102+13484A>G - intron_variant - 1/10
2-136236631-A-G ZRANB3 c.161+25268T>C - IntronicSNV - 2/20
3-156048473-G-A KCNAB1 c.243-90932G>A - IntronicSNV - 1/13
5-169294776-C-A DOCK2 c.2799+26920C>A - IntronicSNV - 27/51
5-169294776-C-G DOCK2 c.2799+26920C>G - IntronicSNV - 27/51
2-197122493-T-G HECW2 c.3419+54A>C - IntronicSNV - 18/28
10-542167-G-T DIP2C c.86-9697C>A - IntronicSNV - 1/36
2-136702601-G-A DARS c.321-1551C>T - IntronicSNV - 4/15
2-136197702-T-C ZRANB3 c.162-49312A>G - IntronicSNV - 2/20
4-173103821-T-G GALNTL6 c.139-46986T>G - IntronicSNV - 2/12
14-81570150-T-C TSHR c.615-4569T>C - IntronicSNV - 7/9
2-175292364-T-C SCRN3 c.1093-77T>C - IntronicSNV - 7/7
2-203067503-A-G KIAA2012 c.*20+193A>G - intron_variant - 23/23
22-23625330-G-A BCR c.2116-834G>A - IntronicSNV - 8/22
3-186260740-A-G CRYGS c.21+1355T>C - IntronicSNV - 1/2
2-135814716-C-T RAB3GAP1 c.75-865C>T - IntronicSNV - 2/23
2-136552188-G-A LCT c.5111+23C>T - IntronicSNV - 14/16
2-135826575-C-T RAB3GAP1 c.150+10919C>T - IntronicSNV - 3/23
16-75364940-C-T CFDP1 c.651-25860G>A - IntronicSNV - 5/6
17-75428021-T-A SEPT9 c.667+29236T>A - IntronicSNV - 2/10
5-32592961-G-A SUB1 c.195+1170G>A - IntronicSNV - 3/4
2-116273665-G-A DPP10 c.367-9809G>A - IntronicSNV - 4/25
6-33749978-T-C LEMD2 c.854-1048A>G - IntronicSNV - 3/8
4-148799672-T-C ARHGAP10 c.833-711T>C - IntronicSNV - 8/22
2-136589278-G-A LCT c.720+1403C>T - IntronicSNV - 2/16
14-51552126-G-A TRIM9 c.822+8710C>T - IntronicSNV - 1/9
20-56137687-A-C PCK1 c.407-65A>C - IntronicSNV - 3/9
17-75428021-T-C SEPT9 c.667+29236T>C - IntronicSNV - 2/10
2-135219050-T-C TMEM163 c.668-3306A>G - IntronicSNV - 6/7
2-135058615-C-G MGAT5 c.407-16485C>G - IntronicSNV - 2/15
5-115885574-C-G SEMA6A c.-39+24307G>C - intron_variant - 1/18
5-115885574-C-A SEMA6A c.-39+24307G>T - intron_variant - 1/18
5-32592961-G-C SUB1 c.195+1170G>C - IntronicSNV - 3/4
2-135236250-T-C TMEM163 c.556-12454A>G - IntronicSNV - 5/7
2-136667896-C-T DARS c.1414+813G>A - IntronicSNV - 15/15
1-103400314-T-C COL11A1 c.3145-202A>G - IntronicSNV - 43/64
2-135762344-C-T MAP3K19 c.235+661G>A - IntronicSNV - 3/9
8-141541888-C-T AGO2 c.*255G>A - 3-UTRSNV 19/19 -
17-78519122-C-T RPTOR c.1-308C>T - 5-UTRSNV 1/34 -
9-35362483-G-A UNC13B c.1168-4461G>A - IntronicSNV - 10/38
2-136146369-G-A ZRANB3 c.180+2003C>T - IntronicSNV - 3/20
2-135080945-T-C MGAT5 c.573+4635T>C - IntronicSNV - 4/15
2-135080945-T-A MGAT5 c.573+4635T>A - IntronicSNV - 4/15
2-135909462-G-A RAB3GAP1 c.2061+1386G>A - IntronicSNV - 18/23
2-115946323-A-G DPP10 c.61-120492A>G - IntronicSNV - 1/25
12-56603765-C-T RNF41 c.362+316G>A - IntronicSNV - 4/6
2-136586183-C-T LCT c.804+980G>A - IntronicSNV - 3/16
12-66245568-C-T HMGA2 c.249+13219C>T - IntronicSNV - 3/4
2-136094478-C-T ZRANB3 c.677+8642G>A - IntronicSNV - 6/20
6-33037675-C-A HLA-DPA1 c.101-12G>T - IntronicSNV - 1/4
1-182777405-A-G NPL c.230+2038A>G - IntronicSNV - 5/12
7-47317046-C-T TNS3 c.*628G>A - 3-UTRSNV 31/31 -
2-135419163-A-G TMEM163 c.322+51607T>C - IntronicSNV - 2/7
2-135127910-G-A MGAT5 c.1380+7931G>A - IntronicSNV - 10/15
2-135362981-A-G TMEM163 c.323-53319T>C - IntronicSNV - 2/7
2-135204008-A-G MGAT5 c.2028-2212A>G - IntronicSNV - 15/15
7-42088222-T-C GLI3 c.547A>G p.Thr183Ala Missense 5/15 -
2-133869768-T-C NCKAP5 c.341+17782A>G - IntronicSNV - 6/17
2-135129865-T-C MGAT5 c.1380+9886T>C - IntronicSNV - 10/15
6-132011994-T-A ENPP3 c.1285-2643T>A - IntronicSNV - 14/24
2-136159291-T-C ZRANB3 c.162-10901A>G - IntronicSNV - 2/20
6-137063271-T-C MAP3K5 c.449-21544A>G - IntronicSNV - 1/29
6-109870377-A-C AK9 c.2964+916T>G - IntronicSNV - 25/40
7-100377082-T-C ZAN c.6329T>C - missense_variant 36/49 -
3-191939916-G-A FGF12 c.415-51471C>T - IntronicSNV - 3/4
20-8402859-A-G PLCB1 c.246+50762A>G - IntronicSNV - 3/31
2-136081193-G-T ZRANB3 c.678-8093C>A - IntronicSNV - 6/20
5-169325594-G-A DOCK2 c.2799+57738G>A - IntronicSNV - 27/51
9-130303385-G-A FAM129B c.56-9328C>T - IntronicSNV - 1/13
9-130303385-G-C FAM129B c.56-9328C>G - IntronicSNV - 1/13
7-43158219-A-C HECW1 c.-32+4229A>C - intron_variant - 2/29
1-74807337-C-A FPGT-TNNI3K c.1025-1189C>A - IntronicSNV - 9/26
14-78060031-C-T SPTLC2 c.327+3498G>A - IntronicSNV - 2/11
18-6023632-A-G L3MBTL4 c.1471+23095T>C - IntronicSNV - 17/19
2-175300997-G-C GPR155 c.2460C>G p.Asn820Lys Missense 16/16 -
2-135289232-G-C TMEM163 c.458+18909C>G - IntronicSNV - 4/7
15-28415850-C-A HERC2 c.10058-1049G>T - IntronicSNV - 65/92
15-28415850-C-T HERC2 c.10058-1049G>A - IntronicSNV - 65/92
7-42045301-G-A GLI3 c.1497+17766C>T - IntronicSNV - 10/14
2-135825074-T-C RAB3GAP1 c.150+9418T>C - IntronicSNV - 3/23
22-33258015-T-G TIMP3 c.*2651T>G - 3-UTRSNV 5/5 -
2-135816439-A-G RAB3GAP1 c.150+783A>G - IntronicSNV - 3/23
2-73651967-C-T ALMS1 c.1177C>T - missense_variant 5/23 -
6-109954252-C-T AK9 c.1128G>A p.Leu376Leu Synonymous 12/41 -
10-24593076-A-C KIAA1217 c.355-76722A>C - IntronicSNV - 2/20
10-24593076-A-T KIAA1217 c.355-76722A>T - IntronicSNV - 2/20
2-136720176-A-C DARS c.218-1108T>G - IntronicSNV - 3/15
1-53260123-A-G ZYG11B c.1335-1841A>G - IntronicSNV - 6/13
2-73651967-C-A ALMS1 c.1177C>A - missense_variant 5/23 -
20-17578239-C-T DSTN c.1-3192C>T - IntronicSNV - 2/4
2-135691725-A-G CCNT2 c.241-2686A>G - IntronicSNV - 2/8
15-48043458-T-C SEMA6D c.1-8538T>C - IntronicSNV - 1/12
3-191989376-C-T FGF12 c.414+63774G>A - IntronicSNV - 3/4
10-49719154-C-T ARHGAP22 c.323-31347G>A - IntronicSNV - 3/9
6-151223680-G-A MTHFD1L c.781-3106G>A - IntronicSNV - 7/27
5-169309080-C-T DOCK2 c.2799+41224C>T - IntronicSNV - 27/51
2-136069060-C-T ZRANB3 c.966+1999G>A - IntronicSNV - 8/20
2-136293257-G-A R3HDM1 c.-250+4054G>A - intron_variant - 1/25
2-136038353-C-T ZRANB3 c.967-5028G>A - IntronicSNV - 8/20
2-136069060-C-A ZRANB3 c.966+1999G>T - IntronicSNV - 8/20
2-136187252-T-A ZRANB3 c.162-38862A>T - IntronicSNV - 2/20
2-136187252-T-C ZRANB3 c.162-38862A>G - IntronicSNV - 2/20
7-42038184-A-G GLI3 c.1498-19837T>C - IntronicSNV - 10/14
5-115859730-A-T SEMA6A c.1-19090T>A - IntronicSNV - 1/18
2-135471748-T-C TMEM163 c.203-859A>G - IntronicSNV - 1/7
2-135361035-G-A TMEM163 c.323-51373C>T - IntronicSNV - 2/7
2-135850778-C-T RAB3GAP1 c.284-407C>T - IntronicSNV - 4/23
7-42090528-C-A GLI3 c.474-2233G>T - IntronicSNV - 4/14
5-139060486-G-A CXXC5 c.378G>A p.Ala126Ala Synonymous 2/3 -
7-42090528-C-T GLI3 c.474-2233G>A - IntronicSNV - 4/14
8-39088049-T-C ADAM32 c.1526-1497T>C - IntronicSNV - 14/24
9-129783116-T-C RALGPS1 c.217-13594T>C - IntronicSNV - 4/18
11-117618713-G-T DSCAML1 c.511+28793C>A - intron_variant - 3/32
5-169290353-G-A DOCK2 c.2799+22497G>A - IntronicSNV - 27/51
2-135430709-G-A TMEM163 c.322+40061C>T - IntronicSNV - 2/7
1-218495048-C-T RRP15 c.706-9242C>T - IntronicSNV - 4/4
2-135096302-C-T MGAT5 c.807+311C>T - IntronicSNV - 6/15
5-14750800-G-A ANKH c.687+378C>T - IntronicSNV - 5/11
10-135221772-G-A MTG1 c.752+5495G>A - IntronicSNV - 9/10
5-169321575-A-G DOCK2 c.2799+53719A>G - IntronicSNV - 27/51
2-136539513-G-A UBXN4 c.1389-806G>A - IntronicSNV - 12/12
2-136539513-G-C UBXN4 c.1389-806G>C - IntronicSNV - 12/12
2-136603276-T-C MCM6 c.2209+531A>G - IntronicSNV - 15/16
3-4849222-G-A ITPR1 c.7083+1271G>A - IntronicSNV - 51/57
2-115946323-A-T DPP10 c.61-120492A>T - IntronicSNV - 1/25
2-135204008-A-C MGAT5 c.2028-2212A>C - IntronicSNV - 15/15
10-135221772-G-T MTG1 c.752+5495G>T - IntronicSNV - 9/10
5-137892170-G-A HSPA9 c.1933C>T p.Leu645Leu Synonymous 16/17 -
2-136575199-G-T LCT c.1419C>A p.Gly473Gly Synonymous 6/17 -
2-136575199-G-A LCT c.1419C>T p.Gly473Gly Synonymous 6/17 -
2-135419163-A-T TMEM163 c.322+51607T>A - IntronicSNV - 2/7
2-205994800-T-C PARD3B c.1434+4339T>C - IntronicSNV - 10/21
20-939161-A-G RSPO4 c.*1839T>C - 3-UTRSNV 5/5 -
4-140614711-G-A MGST2 c.159-1640G>A - IntronicSNV - 2/4
3-4849222-G-C ITPR1 c.7083+1271G>C - IntronicSNV - 51/57
8-73795460-A-G KCNB2 c.580-52710A>G - IntronicSNV - 2/2
8-141541288-C-T AGO2 c.*855G>A - 3-UTRSNV 19/19 -
2-135077707-G-T MGAT5 c.573+1397G>T - IntronicSNV - 4/15
2-136715324-T-G DARS c.320+3642A>C - IntronicSNV - 4/15
2-136229598-G-T ZRANB3 c.161+32301C>A - IntronicSNV - 2/20
2-136715324-T-C DARS c.320+3642A>G - IntronicSNV - 4/15
4-148832250-C-T ARHGAP10 c.1162+1322C>T - IntronicSNV - 12/22
12-56722830-C-T PAN2 c.283-405G>A - IntronicSNV - 2/25
2-136229598-G-A ZRANB3 c.161+32301C>T - IntronicSNV - 2/20
11-62269774-G-A AHNAK c.343-10471C>T - IntronicSNV - 4/5
2-175297360-G-A GPR155 c.*3484C>T - 3-UTRSNV 16/16 -
2-136616754-C-T MCM6 c.1362+117G>A - IntronicSNV - 9/16
2-135426782-A-T TMEM163 c.322+43988T>A - IntronicSNV - 2/7
2-163143424-T-C IFIH1 c.1095+1221A>G - IntronicSNV - 5/15
2-9659610-T-A ADAM17 c.958-1234A>T - IntronicSNV - 8/18
15-42528676-C-T TMEM87A c.869-59G>A - IntronicSNV - 9/19
15-42528676-C-G TMEM87A c.869-59G>C - IntronicSNV - 9/19
15-42528676-C-A TMEM87A c.869-59G>T - IntronicSNV - 9/19
5-14693030-A-G OTULIN c.932A>G p.Asn311Ser Missense 7/7 -
2-15627561-C-T NBAS c.1083+1457G>A - IntronicSNV - 12/51
18-25576002-C-G CDH2 c.1021-2401G>C - IntronicSNV - 7/15
4-89319296-T-C HERC6 c.1027T>C p.Phe343Leu Missense 8/22 -
4-89319296-T-G HERC6 c.1027T>G p.Phe343Val Missense 8/22 -
16-75360734-C-T CFDP1 c.651-21654G>A - IntronicSNV - 5/6
4-173723986-C-T GALNTL6 c.554-6526C>T - IntronicSNV - 5/12
4-140800045-G-A MAML3 c.2079+10466C>T - IntronicSNV - 2/4
2-136100243-G-T ZRANB3 c.677+2877C>A - IntronicSNV - 6/20
8-10548858-T-G C8orf74 c.242-6251T>G - IntronicSNV - 2/3
13-28614361-G-T FLT3 c.1206-2936C>A - IntronicSNV - 9/23
2-163129208-C-T IFIH1 c.2455-311G>A - IntronicSNV - 12/15
13-28614361-G-A FLT3 c.1206-2936C>T - IntronicSNV - 9/23
7-78777397-T-C MAGI2 c.302-140875A>G - IntronicSNV - 1/21
3-194152728-G-C ATP13A3 c.2246-107C>G - IntronicSNV - 20/31
5-131994669-C-T IL13 c.175-441C>T - IntronicSNV - 1/3
2-136590746-C-G LCT c.655G>C p.Val219Leu Missense 2/17 -
2-136608643-G-C MCM6 c.1917+329C>G - IntronicSNV - 13/16
7-99355975-T-C CYP3A4 c.1414-124A>G - IntronicSNV - 12/12
22-33048925-C-A SYN3 c.709-56203G>T - IntronicSNV - 6/13
2-136420690-A-T R3HDM1 c.2047+1727A>T - IntronicSNV - 18/25
2-136420690-A-G R3HDM1 c.2047+1727A>G - IntronicSNV - 18/25
11-117610387-G-A DSCAML1 c.511+37119C>T - intron_variant - 3/32
2-135902172-C-A RAB3GAP1 c.1924-5767C>A - IntronicSNV - 17/23
2-135902172-C-T RAB3GAP1 c.1924-5767C>T - IntronicSNV - 17/23
2-136366433-A-G R3HDM1 c.171+3847A>G - IntronicSNV - 3/25
2-136285317-T-G ZRANB3 c.-8+3380A>C - intron_variant - 1/20
4-31123849-G-A PCDH7 c.3368-20246G>A - IntronicSNV - 2/2
2-136169799-T-C ZRANB3 c.162-21409A>G - IntronicSNV - 2/20
2-136169799-T-A ZRANB3 c.162-21409A>T - IntronicSNV - 2/20
12-130187283-T-C TMEM132D c.80-2040A>G - IntronicSNV - 1/8
7-99325882-C-T CYP3A7 c.165+2800G>A - IntronicSNV - 2/12
3-194152728-G-A ATP13A3 c.2246-107C>T - IntronicSNV - 20/31
2-136555659-T-C LCT c.4916A>G p.Asn1639Ser Missense 13/17 -
11-92705844-T-G MTNR1B c.223+2730T>G - IntronicSNV - 1/1
6-32976927-A-G HLA-DOA c.82+305T>C - IntronicSNV - 1/4
6-51738982-G-A PKHD1 c.7351-3545C>T - IntronicSNV - 46/66
2-136571982-T-A LCT c.1708-1456A>T - IntronicSNV - 6/16
9-130147606-G-A GARNL3 c.2388+182G>A - IntronicSNV - 24/27
7-42072483-G-A GLI3 c.1029-6472C>T - IntronicSNV - 7/14
2-203425475-C-T BMPR2 c.*806C>T - 3-UTRSNV 13/13 -
2-136147948-G-C ZRANB3 c.180+424C>G - IntronicSNV - 3/20
2-136571982-T-C LCT c.1708-1456A>G - IntronicSNV - 6/16
2-136516970-G-A UBXN4 c.509-2418G>A - IntronicSNV - 5/12
2-135907088-A-G RAB3GAP1 c.1924-851A>G - IntronicSNV - 17/23
3-111502126-C-T PLCXD2 c.867-62542C>T - IntronicSNV - 3/3
2-136337874-C-T R3HDM1 c.-249-22196C>T - intron_variant - 1/25
11-117620420-T-C DSCAML1 c.511+27086A>G - intron_variant - 3/32
2-205997457-A-G PARD3B c.1434+6996A>G - IntronicSNV - 10/21
7-99053816-G-A CPSF4 c.667-239G>A - IntronicSNV - 7/7
6-76572668-A-G MYO6 c.1674+228A>G - IntronicSNV - 16/34
7-42066881-A-G GLI3 c.1029-870T>C - IntronicSNV - 7/14
2-136561735-G-A LCT c.4465-37C>T - IntronicSNV - 10/16
2-198001443-C-T ANKRD44 c.191-57G>A - IntronicSNV - 3/9
17-19288274-T-G MFAP4 c.520+138A>C - IntronicSNV - 5/5
1-240076608-A-T CHRM3 c.*4084A>T - IntergenicSNV 5/5 -
2-135885357-C-T RAB3GAP1 c.973+1131C>T - IntronicSNV - 11/23
18-57358629-A-T CCBE1 c.212+5232T>A - IntronicSNV - 2/10
2-169821098-A-G ABCB11 c.2076-280T>C - IntronicSNV - 17/27
3-191945126-G-A FGF12 c.415-56681C>T - IntronicSNV - 3/4
9-129979758-G-A RALGPS1 c.1645-1261G>A - IntronicSNV - 18/18
1-240076608-A-G CHRM3 c.*4084A>G - IntergenicSNV 5/5 -
3-191966701-C-T FGF12 c.415-78256G>A - IntronicSNV - 3/4
2-136247946-A-G ZRANB3 c.161+13953T>C - IntronicSNV - 2/20
5-169262575-A-G DOCK2 c.2704-5186A>G - IntronicSNV - 26/51
2-200154449-G-A SATB2 c.1741-17054C>T - IntronicSNV - 11/11
2-200154449-G-C SATB2 c.1741-17054C>G - IntronicSNV - 11/11
3-191945126-G-T FGF12 c.415-56681C>A - IntronicSNV - 3/4
1-12306734-T-G VPS13D c.447+2060T>G - IntronicSNV - 5/69
12-130193038-C-T TMEM132D c.80-7795G>A - IntronicSNV - 1/8
11-128585924-G-A FLI1 c.18+21753G>A - IntronicSNV - 1/8
1-53234874-A-G ZYG11B c.197-1818A>G - IntronicSNV - 2/13
5-32588433-C-T SUB1 c.1-186C>T - IntronicSNV - 1/4
6-33710038-T-C IP6K3 c.-180+4497A>G - intron_variant - 1/5
4-148827747-A-G ARHGAP10 c.1035-42A>G - IntronicSNV - 10/22
4-148827747-A-C ARHGAP10 c.1035-42A>C - IntronicSNV - 10/22
4-148827747-A-T ARHGAP10 c.1035-42A>T - IntronicSNV - 10/22
3-111428766-A-G PLCXD2 c.624+1533A>G - IntronicSNV - 2/3
1-74842787-G-A FPGT-TNNI3K c.2114+6711G>A - IntronicSNV - 19/26
2-135691659-A-C CCNT2 c.241-2752A>C - IntronicSNV - 2/8
2-136406109-T-C R3HDM1 c.1623+3012T>C - IntronicSNV - 16/25
2-136608651-A-G MCM6 c.1917+321T>C - IntronicSNV - 13/16
2-135818907-C-T RAB3GAP1 c.150+3251C>T - IntronicSNV - 3/23
2-135691659-A-G CCNT2 c.241-2752A>G - IntronicSNV - 2/8
5-115891789-T-C SEMA6A c.-39+18092A>G - intron_variant - 1/18
5-170401291-T-A RANBP17 c.1710+5910T>A - IntronicSNV - 14/27
12-65759885-C-A MSRB3 c.285-2893C>A - IntronicSNV - 3/5
2-135829309-G-A RAB3GAP1 c.150+13653G>A - IntronicSNV - 3/23
13-110419404-C-T IRS2 c.4013-10749G>A - IntronicSNV - 1/1
6-69938177-G-C ADGRB3 c.2481-5005G>C - IntronicSNV - 17/31
18-66714832-G-A CCDC102B c.1435-6435G>A - IntronicSNV - 7/7
12-44932268-T-C NELL2 c.1664-5764A>G - IntronicSNV - 16/20
2-135880643-A-G RAB3GAP1 c.749-1092A>G - IntronicSNV - 8/23
6-110051141-T-G FIG4 c.446+2673T>G - IntronicSNV - 4/22
6-109965474-G-T AK9 c.834+343C>A - IntronicSNV - 9/40
22-23614436-G-A BCR c.1921+657G>A - IntronicSNV - 6/22
2-135981554-A-G ZRANB3 c.2250+442T>C - IntronicSNV - 15/20
2-122273073-G-A CLASP1 c.644+168C>T - IntronicSNV - 7/39
3-185795333-T-C ETV5 c.650+2273A>G - IntronicSNV - 7/12
6-110051141-T-A FIG4 c.446+2673T>A - IntronicSNV - 4/22
15-72846354-G-A ARIH1 c.589-1258G>A - IntronicSNV - 3/13
18-66717718-A-C CCDC102B c.1435-3549A>C - IntronicSNV - 7/7
20-7894061-G-A HAO1 c.545+750C>T - IntronicSNV - 3/7
2-136575887-C-T LCT c.987-256G>A - IntronicSNV - 5/16
2-136575887-C-A LCT c.987-256G>T - IntronicSNV - 5/16
22-35815485-C-T MCM5 c.1704-392C>T - IntronicSNV - 13/16
5-115891789-T-A SEMA6A c.-39+18092A>T - intron_variant - 1/18
14-78043929-G-C SPTLC2 c.483-671C>G - IntronicSNV - 3/11
4-148445429-A-T EDNRA c.421-11600A>T - IntronicSNV - 2/5
5-14745357-A-G ANKH c.915+622T>C - IntronicSNV - 7/11
2-136445869-G-A R3HDM1 c.2354+7975G>A - IntronicSNV - 20/25
6-151225565-G-A MTHFD1L c.781-1221G>A - IntronicSNV - 7/27
16-50759547-A-T NOD2 c.2966+64A>T - IntronicSNV - 10/11
7-24966446-C-A OSBPL3 c.1-34355G>T - IntronicSNV - 1/22
1-176453688-G-A PAPPA2 c.-917+21134G>A - intron_variant - 1/22
9-91154126-A-G NXNL2 c.302+3475A>G - IntronicSNV - 1/2
1-161811555-T-C ATF6 c.1188-4684T>C - IntronicSNV - 9/15
17-38335870-C-T RAPGEFL1 c.517+1237C>T - intron_variant - 2/15
9-108050418-C-G SLC44A1 c.37-11083C>G - IntronicSNV - 1/15
20-964652-T-C RSPO4 c.80-15871A>G - IntronicSNV - 1/4
5-169260680-C-T DOCK2 c.2704-7081C>T - IntronicSNV - 26/51
2-175289144-C-A SCRN3 c.918-59C>A - IntronicSNV - 6/7
6-109997143-G-A AK9 c.1-195C>T - IntronicSNV - 1/40
2-101591443-A-C NPAS2 c.1282+37A>C - IntronicSNV - 13/20
2-135980201-T-C ZRANB3 c.2250+1795A>G - IntronicSNV - 15/20
12-56743367-T-C STAT2 c.1257+6A>G - IntronicSNV - 14/23
2-136556182-T-C LCT c.4867-474A>G - IntronicSNV - 12/16
6-51746280-A-T PKHD1 c.7350+1611T>A - IntronicSNV - 46/66
2-135890608-G-C RAB3GAP1 c.1326+54G>C - IntronicSNV - 14/23
2-134116853-G-A NCKAP5 c.70-56171C>T - IntronicSNV - 3/17
5-115901872-T-A SEMA6A c.-39+8009A>T - intron_variant - 1/18
2-133731788-T-G NCKAP5 c.430-10346A>C - IntronicSNV - 7/17
1-59249360-TG-TGTG JUN c.1-619_1-618dup - 5-UTRInsertion 1/1 -
6-51746280-A-C PKHD1 c.7350+1611T>G - IntronicSNV - 46/66
6-51746280-A-G PKHD1 c.7350+1611T>C - IntronicSNV - 46/66
10-135224960-A-G MTG1 c.753-8024A>G - IntronicSNV - 9/10
1-182766498-G-T NPL c.68+2924G>T - IntronicSNV - 3/12
2-136097394-C-T ZRANB3 c.677+5726G>A - IntronicSNV - 6/20
2-134116853-G-T NCKAP5 c.70-56171C>A - IntronicSNV - 3/17
2-136061560-G-T ZRANB3 c.966+9499C>A - IntronicSNV - 8/20
2-88423510-A-G FABP1 c.333+503T>C - IntronicSNV - 3/3
2-203569287-T-C FAM117B c.753+8532T>C - IntronicSNV - 2/7
17-73550047-A-T LLGL2 c.76-2080A>T - IntronicSNV - 2/24
5-137872116-G-A ETF1 c.86+6406C>T - IntronicSNV - 2/10
11-117610854-G-C DSCAML1 c.511+36652C>G - intron_variant - 3/32
1-208403258-C-T PLXNA2 c.1-11991G>A - IntronicSNV - 1/31
5-132012725-T-G IL4 c.183+2527T>G - IntronicSNV - 2/3
5-132012725-T-C IL4 c.183+2527T>C - IntronicSNV - 2/3
6-109928008-T-C AK9 c.1842+3560A>G - IntronicSNV - 17/40
12-56722060-T-G PAN2 c.535A>C p.Ile179Leu Missense 4/26 -
2-136608651-A-C MCM6 c.1917+321T>G - IntronicSNV - 13/16
1-53264486-A-T ZYG11B c.1485+2030A>T - IntronicSNV - 8/13
2-136203038-A-C ZRANB3 c.162-54648T>G - IntronicSNV - 2/20
15-28425771-G-T HERC2 c.8938-1402C>A - IntronicSNV - 57/92
17-38500914-T-C RARA c.179-3654T>C - IntronicSNV - 2/8
2-136630170-A-G MCM6 c.254+97T>C - IntronicSNV - 2/16
5-137876920-G-A ETF1 c.86+1602C>T - IntronicSNV - 2/10
13-45784263-T-G GTF2F2 c.386+2623T>G - IntronicSNV - 5/7
2-136407445-A-G R3HDM1 c.1624-1858A>G - IntronicSNV - 16/25
2-136242667-C-T ZRANB3 c.161+19232G>A - IntronicSNV - 2/20
2-136667301-T-C DARS c.1414+1408A>G - IntronicSNV - 15/15
6-109945747-T-G AK9 c.1255-5308A>C - IntronicSNV - 12/40
2-135469769-A-G TMEM163 c.322+1001T>C - IntronicSNV - 2/7
22-23623284-T-C BCR c.2116-2880T>C - IntronicSNV - 8/22
2-136447707-T-C R3HDM1 c.2354+9813T>C - IntronicSNV - 20/25
17-73540855-T-G LLGL2 c.75+1273T>G - IntronicSNV - 2/24
6-51709404-T-G PKHD1 c.8107+3169A>C - IntronicSNV - 50/66
6-51709404-T-C PKHD1 c.8107+3169A>G - IntronicSNV - 50/66
15-28425771-G-C HERC2 c.8938-1402C>G - IntronicSNV - 57/92
18-6023233-G-A L3MBTL4 c.1471+23494C>T - IntronicSNV - 17/19
1-154528086-T-C UBE2Q1 c.433-78A>G - IntronicSNV - 2/12
7-42035623-T-C GLI3 c.1498-17276A>G - IntronicSNV - 10/14
9-35364353-G-A UNC13B c.1168-2591G>A - IntronicSNV - 10/38
2-135965002-A-G ZRANB3 c.3009+2T>C - IntronicSNV - 19/20
15-75081078-G-A CSK c.-66+6017G>A - intron_variant - 1/12
5-137863134-A-C ETF1 c.87-8578T>G - IntronicSNV - 2/10
7-107613379-G-A LAMB1 c.1562+58C>T - IntronicSNV - 13/33
1-53225363-A-G ZYG11B c.196+3068A>G - IntronicSNV - 2/13
5-132109742-G-A SEPT8 c.30+3058C>T - IntronicSNV - 1/9
3-140695993-T-G SLC25A36 c.*698T>G - 3-UTRSNV 7/7 -
3-140695993-T-A SLC25A36 c.*698T>A - 3-UTRSNV 7/7 -
12-56601739-G-T RNF41 c.499-206C>A - IntronicSNV - 5/6
2-136680534-A-G DARS c.677-46T>C - IntronicSNV - 8/15
3-179741099-T-C PEX5L c.21+13268A>G - IntronicSNV - 1/14
11-19908729-C-A NAV2 c.771-5251C>A - IntronicSNV - 5/37
11-19908729-C-G NAV2 c.771-5251C>G - IntronicSNV - 5/37
21-16399980-G-A NRIP1 c.-457-13193C>T - intron_variant - 2/3
3-3123326-A-C IL5RA c.995-5015T>G - IntronicSNV - 10/12
18-8205596-T-G PTPRM c.2301-38460T>G - IntronicSNV - 14/32
2-136408291-C-T R3HDM1 c.1624-1012C>T - IntronicSNV - 16/25
22-23626081-G-C BCR c.2116-83G>C - IntronicSNV - 8/22
22-23626081-G-A BCR c.2116-83G>A - IntronicSNV - 8/22
11-20931291-C-T NELL1 c.604-8437C>T - IntronicSNV - 5/19
5-32596846-G-A SUB1 c.196-2221G>A - IntronicSNV - 3/4
2-97489870-C-A CNNM3 c.1226-925C>A - IntronicSNV - 1/7
2-97489870-C-T CNNM3 c.1226-925C>T - IntronicSNV - 1/7
2-136128254-A-G ZRANB3 c.181-17056T>C - IntronicSNV - 3/20
2-136189475-G-T ZRANB3 c.162-41085C>A - IntronicSNV - 2/20
4-148764252-G-A ARHGAP10 c.313-4050G>A - IntronicSNV - 3/22
2-136409574-A-G R3HDM1 c.1895A>G p.Gln632Arg Missense 17/26 -
2-136409574-A-C R3HDM1 c.1895A>C p.Gln632Pro Missense 17/26 -
2-136409574-A-T R3HDM1 c.1895A>T p.Gln632Leu Missense 17/26 -
3-8797095-T-C OXTR c.923-2185A>G - IntronicSNV - 3/3
1-161811555-T-G ATF6 c.1188-4684T>G - IntronicSNV - 9/15
2-136609746-A-G MCM6 c.1755+611T>C - IntronicSNV - 12/16
6-33753673-G-A LEMD2 c.777+838C>T - IntronicSNV - 2/8
2-136630170-A-C MCM6 c.254+97T>G - IntronicSNV - 2/16
2-136555525-T-G LCT c.4976+74A>C - IntronicSNV - 13/16
2-136555525-T-A LCT c.4976+74A>T - IntronicSNV - 13/16
7-42036345-G-A GLI3 c.1498-17998C>T - IntronicSNV - 10/14
7-42036345-G-C GLI3 c.1498-17998C>G - IntronicSNV - 10/14
6-109879241-G-T AK9 c.2751+5559C>A - IntronicSNV - 24/40
2-135912977-G-A RAB3GAP1 c.2289+1531G>A - IntronicSNV - 19/23
2-135912977-G-T RAB3GAP1 c.2289+1531G>T - IntronicSNV - 19/23
1-103400314-T-A COL11A1 c.3145-202A>T - IntronicSNV - 43/64
1-182771711-G-T NPL c.69-1122G>T - IntronicSNV - 3/12
1-182771711-G-A NPL c.69-1122G>A - IntronicSNV - 3/12
2-136631545-G-C MCM6 c.108-1132C>G - IntronicSNV - 1/16
9-127287329-G-A NR6A1 c.1190-177C>T - IntronicSNV - 8/9
6-33753673-G-C LEMD2 c.777+838C>G - IntronicSNV - 2/8
5-14748236-C-T ANKH c.822+1045G>A - IntronicSNV - 6/11
16-76521236-T-G CNTNAP4 c.1880-2347T>G - intron_variant - 13/24
20-7908901-C-G HAO1 c.289+6230G>C - IntronicSNV - 2/7
9-123677625-G-A TRAF1 c.229-1047C>T - IntronicSNV - 3/7
5-137905448-T-A HSPA9 c.411-710A>T - IntronicSNV - 4/16
5-137905448-T-G HSPA9 c.411-710A>C - IntronicSNV - 4/16
14-61745417-A-G TMEM30B c.*1393T>C - 3-UTRSNV 1/1 -
5-14697914-C-T OTULIN c.*4757C>T - 3-UTRSNV 7/7 -
3-191935121-G-T FGF12 c.415-46676C>A - IntronicSNV - 3/4
15-75044238-G-A CYP1A2 c.1042+43G>A - IntronicSNV - 4/6
1-53288239-A-G ZYG11B c.*938A>G - 3-UTRSNV 14/14 -
2-136156753-C-A ZRANB3 c.162-8363G>T - IntronicSNV - 2/20
12-101993580-C-T MYBPC1 c.25+4707C>T - IntronicSNV - 1/29
12-101993580-C-A MYBPC1 c.25+4707C>A - IntronicSNV - 1/29
11-8129296-C-A RIC3 c.*2949G>T - 3-UTRSNV 6/6 -
11-8129296-C-G RIC3 c.*2949G>C - 3-UTRSNV 6/6 -
8-17236582-A-G MTMR7 c.25-5833T>C - IntronicSNV - 1/13
2-136436317-T-C R3HDM1 c.2203-1426T>C - IntronicSNV - 19/25
12-71523134-A-C TSPAN8 c.637T>G p.Ser213Ala Missense 8/9 -
2-136677192-T-C DARS c.959+831A>G - IntronicSNV - 10/15
1-85308524-T-G LPAR3 c.736+22544A>C - IntronicSNV - 2/2
4-39586775-T-G SMIM14 c.76-12692A>C - IntronicSNV - 2/4
2-135111439-C-T MGAT5 c.1246+3930C>T - IntronicSNV - 9/15
12-70934961-C-T PTPRB c.5495-224G>A - IntronicSNV - 22/33
5-115904410-A-G SEMA6A c.-39+5471T>C - intron_variant - 1/18
18-33736180-A-G ELP2 c.1276-249A>G - IntronicSNV - 12/21
19-1391235-G-A NDUFS7 c.455+71G>A - IntronicSNV - 6/7
11-117610387-G-C DSCAML1 c.511+37119C>G - intron_variant - 3/32
5-115859730-A-G SEMA6A c.1-19090T>C - IntronicSNV - 1/18
2-135715957-A-G CCNT2 c.*3739A>G - 3-UTRSNV 9/9 -
2-163148411-A-C IFIH1 c.874+1663T>G - IntronicSNV - 4/15
2-136106561-T-C ZRANB3 c.591+993A>G - IntronicSNV - 5/20
9-123677625-G-C TRAF1 c.229-1047C>G - IntronicSNV - 3/7
2-86350664-A-G PTCD3 c.655-160A>G - IntronicSNV - 8/23
14-30177166-T-C PRKD1 c.403+17576A>G - IntronicSNV - 2/17
5-169279780-T-C DOCK2 c.2799+11924T>C - IntronicSNV - 27/51
5-32130401-C-A GOLPH3 c.473-3659G>T - IntronicSNV - 3/3
4-148810260-A-G ARHGAP10 c.1034+7177A>G - IntronicSNV - 10/22
2-135902172-C-G RAB3GAP1 c.1924-5767C>G - IntronicSNV - 17/23
2-136464965-C-T R3HDM1 c.2355-2038C>T - IntronicSNV - 20/25
2-233926201-G-A INPP5D c.134+879G>A - IntronicSNV - 1/27
14-30180340-C-T PRKD1 c.403+14402G>A - IntronicSNV - 2/17
2-135205984-G-T MGAT5 c.2028-236G>T - IntronicSNV - 15/15
2-136464965-C-G R3HDM1 c.2355-2038C>G - IntronicSNV - 20/25
7-42040158-A-G GLI3 c.1498-21811T>C - IntronicSNV - 10/14
3-122738307-A-G SEMA5B c.-39+8004T>C - intron_variant - 1/22
7-42040158-A-T GLI3 c.1498-21811T>A - IntronicSNV - 10/14
2-135290453-G-C TMEM163 c.458+17688C>G - IntronicSNV - 4/7
1-161741274-T-C ATF6 c.82+5042T>C - IntronicSNV - 1/15
7-99217424-G-A ZSCAN25 c.195G>A p.Glu65Glu Synonymous 4/8 -
2-135209142-G-A MGAT5 c.*2724G>A - 3-UTRSNV 16/16 -
4-66469440-T-A EPHA5 c.247-1418A>T - IntronicSNV - 2/17
2-136159683-A-C ZRANB3 c.162-11293T>G - IntronicSNV - 2/20
12-121768248-C-T ANAPC5 c.825+138G>A - IntronicSNV - 9/16
2-136268788-A-C ZRANB3 c.1-6729T>G - IntronicSNV - 1/20
1-241375666-C-T RGS7 c.79-113604G>A - IntronicSNV - 2/17
5-137854924-T-C ETF1 c.87-368A>G - IntronicSNV - 2/10
6-131987353-A-G ENPP3 c.563-5035A>G - IntronicSNV - 6/24
14-81493693-G-A TSHR c.171-34799G>A - IntronicSNV - 1/9
2-135466520-G-A TMEM163 c.322+4250C>T - IntronicSNV - 2/7
6-76588562-C-T MYO6 c.2078-975C>T - IntronicSNV - 20/34
2-135426782-A-G TMEM163 c.322+43988T>C - IntronicSNV - 2/7
12-15560196-A-G PTPRO c.76-76712A>G - IntronicSNV - 1/25
22-33048338-T-C SYN3 c.709-55616A>G - IntronicSNV - 6/13
2-136707480-A-G DARS c.321-6430T>C - IntronicSNV - 4/15
8-141541881-C-T AGO2 c.*262G>A - 3-UTRSNV 19/19 -
2-136531252-C-A UBXN4 c.950+1135C>A - IntronicSNV - 9/12
2-69251810-A-G ANTXR1 c.152+11027A>G - IntronicSNV - 1/17
2-136575534-T-C LCT c.1084A>G p.Ile362Val Missense 6/17 -
3-12346911-C-T PPARG c.-3+17392C>T - intron_variant - 1/6
1-197413628-C-T CRB1 c.4005+2206C>T - IntronicSNV - 11/11
3-11041808-C-T SLC6A1 c.-216+7193C>T - intron_variant - 1/15
5-90426633-A-G ADGRV1 c.18433-19214A>G - IntronicSNV - 87/89
22-23614008-A-T BCR c.1921+229A>T - IntronicSNV - 6/22
8-17236582-A-C MTMR7 c.25-5833T>G - IntronicSNV - 1/13
3-191933006-T-C FGF12 c.415-44561A>G - IntronicSNV - 3/4
2-101579811-C-G NPAS2 c.599-709C>G - IntronicSNV - 7/20
12-130188504-T-A TMEM132D c.80-3261A>T - IntronicSNV - 1/8
2-136531252-C-T UBXN4 c.950+1135C>T - IntronicSNV - 9/12
6-109953266-G-A AK9 c.1254+860C>T - IntronicSNV - 12/40
2-197122493-T-A HECW2 c.3419+54A>T - IntronicSNV - 18/28
4-25820615-C-T SEL1L3 c.1424-715G>A - IntronicSNV - 8/23
6-109953266-G-T AK9 c.1254+860C>A - IntronicSNV - 12/40
2-200157595-T-G SATB2 c.1740+15888A>C - IntronicSNV - 11/11
2-136129791-A-G ZRANB3 c.180+18581T>C - IntronicSNV - 3/20
2-136112123-A-G ZRANB3 c.181-925T>C - IntronicSNV - 3/20
11-8122234-G-A TUB c.1380+86G>A - IntronicSNV - 11/12
2-135888078-G-T RAB3GAP1 c.1067-44G>T - IntronicSNV - 12/23
7-99325882-C-A CYP3A7 c.165+2800G>T - IntronicSNV - 2/12
2-136303450-G-A R3HDM1 c.-250+14247G>A - intron_variant - 1/25
2-135401339-T-C TMEM163 c.322+69431A>G - IntronicSNV - 2/7
5-136983954-G-A KLHL3 c.808-8288C>T - IntronicSNV - 8/14
2-136296989-G-T R3HDM1 c.-250+7786G>T - intron_variant - 1/25
5-115899501-C-A SEMA6A c.-39+10380G>T - intron_variant - 1/18
5-106878464-A-G EFNA5 c.126-115254T>C - IntronicSNV - 1/4
5-115899501-C-T SEMA6A c.-39+10380G>A - intron_variant - 1/18
3-186276393-C-A TBCCD1 c.337-32G>T - IntronicSNV - 2/7
3-179736974-C-T PEX5L c.21+17393G>A - IntronicSNV - 1/14
3-191987899-C-T FGF12 c.414+65251G>A - IntronicSNV - 3/4
9-2190296-A-G SMARCA2 c.4595-970A>G - IntronicSNV - 32/33
3-186276393-C-T TBCCD1 c.337-32G>A - IntronicSNV - 2/7
2-136016514-C-T ZRANB3 c.1539+6590G>A - IntronicSNV - 12/20
2-136016514-C-A ZRANB3 c.1539+6590G>T - IntronicSNV - 12/20
2-136182484-C-T ZRANB3 c.162-34094G>A - IntronicSNV - 2/20
1-12296232-C-A VPS13D c.97+1812C>A - IntronicSNV - 2/69
4-143634746-G-A INPP4B c.-290+12246C>T - intron_variant - 2/26
2-136590746-C-T LCT c.655G>A p.Val219Ile Missense 2/17 -
2-136726567-C-A DARS c.218-7499G>T - IntronicSNV - 3/15
5-170460205-A-T RANBP17 c.1710+64824A>T - IntronicSNV - 14/27
5-170460205-A-C RANBP17 c.1710+64824A>C - IntronicSNV - 14/27
2-135972093-G-A ZRANB3 c.2495+2942C>T - IntronicSNV - 17/20
2-135036696-C-A MGAT5 c.406+8575C>A - IntronicSNV - 2/15
9-113547476-G-A MUSK c.1328+180G>A - IntronicSNV - 11/13
2-135370656-G-A TMEM163 c.323-60994C>T - IntronicSNV - 2/7
3-191960093-G-A FGF12 c.415-71648C>T - IntronicSNV - 3/4
2-136288273-C-T ZRANB3 c.-8+424G>A - intron_variant - 1/20
14-78298732-C-A ADCK1 c.219+9871C>A - IntronicSNV - 3/10
2-135437534-C-T TMEM163 c.322+33236G>A - IntronicSNV - 2/7
2-136590746-C-A LCT c.655G>T p.Val219Phe Missense 2/17 -
2-136726567-C-T DARS c.218-7499G>A - IntronicSNV - 3/15
2-136393658-A-G R3HDM1 c.808A>G p.Met270Val Missense 11/26 -
5-170460205-A-G RANBP17 c.1710+64824A>G - IntronicSNV - 14/27
2-136151252-C-T ZRANB3 c.162-2862G>A - IntronicSNV - 2/20
2-135036696-C-T MGAT5 c.406+8575C>T - IntronicSNV - 2/15
2-136622543-T-G MCM6 c.1078+40A>C - IntronicSNV - 7/16
4-73351177-T-C ADAMTS3 c.504+63018A>G - IntronicSNV - 3/21
1-241374115-A-G RGS7 c.79-112053T>C - IntronicSNV - 2/17
5-32130401-C-T GOLPH3 c.473-3659G>A - IntronicSNV - 3/3
17-7729706-A-G DNAH2 c.11853+1661A>G - IntronicSNV - 77/85
2-135419075-G-A TMEM163 c.322+51695C>T - IntronicSNV - 2/7
17-7729706-A-T DNAH2 c.11853+1661A>T - IntronicSNV - 77/85
2-135453916-T-C TMEM163 c.322+16854A>G - IntronicSNV - 2/7
2-88424066-T-C FABP1 c.280A>G p.Thr94Ala Missense 3/4 -
19-3976321-T-G EEF2 c.*231A>C - 3-UTRSNV 15/15 -
10-547658-G-T DIP2C c.86-15188C>A - IntronicSNV - 1/36
6-32975896-A-G HLA-DOA c.225T>C p.Gly75Gly Synonymous 2/5 -
1-61668784-C-T NFIA c.560-74408C>T - IntronicSNV - 2/9
2-135880065-A-G RAB3GAP1 c.748+1577A>G - IntronicSNV - 8/23
17-75431978-T-C SEPT9 c.667+33193T>C - IntronicSNV - 2/10
7-121606698-C-T PTPRZ1 c.125-1307C>T - IntronicSNV - 2/29
10-542167-G-A DIP2C c.86-9697C>T - IntronicSNV - 1/36
5-137903084-A-C HSPA9 c.716+60T>G - IntronicSNV - 7/16
4-39420869-T-C KLB c.825+11475T>C - IntronicSNV - 1/4
4-159454279-A-G RXFP1 c.49+11102A>G - IntronicSNV - 1/17
20-37237147-T-C ARHGAP40 c.137+6425T>C - IntronicSNV - 1/14
2-135781635-C-T MAP3K19 c.22+561G>A - IntronicSNV - 1/9
6-33703230-G-A IP6K3 c.24C>T p.Asp8Asp Synonymous 2/6 -
3-191990575-G-T FGF12 c.414+62575C>A - IntronicSNV - 3/4
9-16656653-T-C BNC2 c.327+71142A>G - intron_variant - 2/5
3-191990575-G-A FGF12 c.414+62575C>T - IntronicSNV - 3/4
7-42070252-T-G GLI3 c.1029-4241A>C - IntronicSNV - 7/14
2-136115501-C-T ZRANB3 c.181-4303G>A - IntronicSNV - 3/20
2-86015651-T-C ATOH8 c.*1638T>C - 3-UTRSNV 3/3 -
12-71531639-G-A TSPAN8 c.444+94C>T - IntronicSNV - 6/8
18-66718841-A-G CCDC102B c.1435-2426A>G - IntronicSNV - 7/7
2-136214307-C-T ZRANB3 c.161+47592G>A - IntronicSNV - 2/20
2-136127100-T-C ZRANB3 c.181-15902A>G - IntronicSNV - 3/20
5-14748556-T-C ANKH c.822+725A>G - IntronicSNV - 6/11
22-23625550-C-T BCR c.2116-614C>T - IntronicSNV - 8/22
5-14748958-T-G ANKH c.822+323A>C - IntronicSNV - 6/11
6-109863238-A-C AK9 c.3350+12T>G - IntronicSNV - 27/40
1-74823548-G-A FPGT-TNNI3K c.1519+3735G>A - IntronicSNV - 13/26
18-33752823-A-G ELP2 c.2325-1625A>G - IntronicSNV - 21/21
6-33036210-G-T HLA-DPA1 c.*217C>A - IntronicSNV - 4/4
5-32588433-C-A SUB1 c.1-186C>A - IntronicSNV - 1/4
12-50841057-A-G LARP4 c.804+5631A>G - IntronicSNV - 8/15
17-38335870-C-A RAPGEFL1 c.517+1237C>A - intron_variant - 2/15
10-82309427-T-C SH2D4B c.37+8738T>C - IntronicSNV - 1/6
10-547567-A-G DIP2C c.86-15097T>C - IntronicSNV - 1/36
15-29645263-A-G FAM189A1 c.276+28716T>C - IntronicSNV - 2/10
8-19814696-C-G LPL c.1018+1102C>G - IntronicSNV - 6/9
2-136101823-C-T ZRANB3 c.677+1297G>A - IntronicSNV - 6/20
8-10852164-G-C XKR6 c.765-69824C>G - IntronicSNV - 1/2
8-10852164-G-A XKR6 c.765-69824C>T - IntronicSNV - 1/2
2-197986501-T-G ANKRD44 c.694-233A>C - IntronicSNV - 7/9
3-3121848-C-T IL5RA c.995-3537G>A - IntronicSNV - 10/12
2-135218605-A-G TMEM163 c.668-2861T>C - IntronicSNV - 6/7
2-175293638-C-T SCRN3 c.*1015C>T - 3-UTRSNV 8/8 -
2-136117271-A-G ZRANB3 c.181-6073T>C - IntronicSNV - 3/20
17-72691631-T-G CD300LF c.717+233A>C - IntronicSNV - 6/6
17-72691631-T-A CD300LF c.717+233A>T - IntronicSNV - 6/6
2-136282110-T-G ZRANB3 c.-8+6587A>C - intron_variant - 1/20
16-53769919-C-G FTO c.45+31778C>G - IntronicSNV - 1/8
2-136459227-A-G R3HDM1 c.2355-7776A>G - IntronicSNV - 20/25
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
4-66469440-T-C EPHA5 c.247-1418A>G - IntronicSNV - 2/17
2-135114889-A-G MGAT5 c.1247-4957A>G - IntronicSNV - 9/15
8-10851455-A-T XKR6 c.765-69115T>A - IntronicSNV - 1/2
18-33721325-C-G ELP2 c.588+161C>G - IntronicSNV - 6/21
20-966215-A-G RSPO4 c.79+16514T>C - IntronicSNV - 1/4
12-56737973-A-G STAT2 c.2103-54T>C - IntronicSNV - 22/23
2-136569848-C-A LCT c.2353+33G>T - IntronicSNV - 7/16
10-95164206-T-A MYOF c.730-230A>T - IntronicSNV - 7/53
10-95164206-T-C MYOF c.730-230A>G - IntronicSNV - 7/53
4-66469440-T-G EPHA5 c.247-1418A>C - IntronicSNV - 2/17
2-135902220-C-T RAB3GAP1 c.1924-5719C>T - IntronicSNV - 17/23
8-10851455-A-G XKR6 c.765-69115T>C - IntronicSNV - 1/2
2-198012407-G-T ANKRD44 c.112-578C>A - IntronicSNV - 2/9
1-200032080-C-A NR5A2 c.894+14134C>A - IntronicSNV - 4/6
2-163138785-G-A IFIH1 c.1306+91C>T - IntronicSNV - 6/15
2-135715957-A-T CCNT2 c.*3739A>T - 3-UTRSNV 9/9 -
20-37237147-T-A ARHGAP40 c.137+6425T>A - IntronicSNV - 1/14
3-113652774-A-G GRAMD1C c.1352+274A>G - IntronicSNV - 12/17
20-37237147-T-G ARHGAP40 c.137+6425T>G - IntronicSNV - 1/14
20-17585552-G-A DSTN c.337+276G>A - IntronicSNV - 4/4
4-173103821-T-A GALNTL6 c.139-46986T>A - IntronicSNV - 2/12
7-99426802-A-G CYP3A43 c.71+993A>G - IntronicSNV - 1/9
16-76521236-T-A CNTNAP4 c.1880-2347T>A - intron_variant - 13/24
2-135973768-A-G ZRANB3 c.2495+1267T>C - IntronicSNV - 17/20
2-135967778-A-G ZRANB3 c.2496-1230T>C - IntronicSNV - 17/20
16-76521236-T-C CNTNAP4 c.1880-2347T>C - intron_variant - 13/24
6-51735261-G-T PKHD1 c.7486+41C>A - IntronicSNV - 47/66
14-32328830-C-T NUBPL c.*444C>T - 3-UTRSNV 11/11 -
2-135127474-A-G MGAT5 c.1380+7495A>G - IntronicSNV - 10/15
3-191946391-T-C FGF12 c.415-57946A>G - IntronicSNV - 3/4
11-67013660-T-C KDM2A c.1965+73T>C - IntronicSNV - 15/20
2-136602291-C-T MCM6 c.2210-37G>A - IntronicSNV - 15/16
3-191979032-A-C FGF12 c.414+74118T>G - IntronicSNV - 3/4
14-30125660-A-G PRKD1 c.696+7245T>C - IntronicSNV - 4/17
9-34399002-C-A FAM219A c.*1960G>T - 3-UTRSNV 6/6 -
2-135340840-C-G TMEM163 c.323-31178G>C - IntronicSNV - 2/7
2-65298657-A-G CEP68 c.427A>G p.Ile143Val Missense 3/7 -
4-143722951-T-A INPP4B c.-353+44411A>T - intron_variant - 1/26
4-143722951-T-C INPP4B c.-353+44411A>G - intron_variant - 1/26
1-92550586-G-A BTBD8 c.150-3669G>A - IntronicSNV - 1/8
21-27032815-T-C JAM2 c.67+20615T>C - IntronicSNV - 1/8
2-135392958-G-A TMEM163 c.322+77812C>T - IntronicSNV - 2/7
5-32159329-A-G GOLPH3 c.225+14587T>C - IntronicSNV - 1/3
1-155038756-T-C EFNA4 c.114-450T>C - IntronicSNV - 1/3
12-56717466-C-T PAN2 c.2173-84G>A - IntronicSNV - 14/25
7-42042398-A-G GLI3 c.1497+20669T>C - IntronicSNV - 10/14
6-51732628-G-A PKHD1 c.7733+33C>T - IntronicSNV - 48/66
5-115886945-G-T SEMA6A c.-39+22936C>A - intron_variant - 1/18
2-135777504-A-G MAP3K19 c.138+1781T>C - IntronicSNV - 2/9
2-136630687-G-C MCM6 c.108-274C>G - IntronicSNV - 1/16
2-136630687-G-A MCM6 c.108-274C>T - IntronicSNV - 1/16
16-76523792-A-G CNTNAP4 c.2077+12A>G - intron_variant - 14/24
5-142162633-G-A ARHGAP26 c.154+12153G>A - IntronicSNV - 1/22
2-135079528-C-T MGAT5 c.573+3218C>T - IntronicSNV - 4/15
2-135079528-C-G MGAT5 c.573+3218C>G - IntronicSNV - 4/15
2-135451302-G-T TMEM163 c.322+19468C>A - IntronicSNV - 2/7
2-135762980-C-T MAP3K19 c.235+25G>A - IntronicSNV - 3/9
12-6437389-T-C PLEKHG6 c.*78T>C - 3-UTRSNV 16/16 -
9-132940007-C-T NCS1 c.64+5001C>T - IntronicSNV - 1/7
6-109941321-C-G AK9 c.1255-882G>C - IntronicSNV - 12/40
22-23625655-C-T BCR c.2116-509C>T - IntronicSNV - 8/22
6-109941321-C-T AK9 c.1255-882G>A - IntronicSNV - 12/40
2-163416447-G-T KCNH7 c.308-22857C>A - IntronicSNV - 2/15
2-163416447-G-A KCNH7 c.308-22857C>T - IntronicSNV - 2/15
12-56607927-C-T RNF41 c.1-96G>A - IntronicSNV - 2/6
2-136095604-C-T ZRANB3 c.677+7516G>A - IntronicSNV - 6/20
1-92519197-C-T EPHX4 c.857+982C>T - IntronicSNV - 6/6
2-136542560-A-G UBXN4 c.*2103A>G - 3-UTRSNV 13/13 -
3-197564995-G-T LRCH3 c.1252-1197G>T - IntronicSNV - 9/18
15-75111984-C-T LMAN1L c.718+371C>T - IntronicSNV - 6/13
16-12776837-G-A CPPED1 c.716-17865C>T - IntronicSNV - 3/3
17-72681941-C-T RAB37 c.72+14144C>T - IntronicSNV - 1/8
2-135094416-G-A MGAT5 c.645+557G>A - IntronicSNV - 5/15
3-3123326-A-G IL5RA c.995-5015T>C - IntronicSNV - 10/12
5-14751055-G-T ANKH c.687+123C>A - IntronicSNV - 5/11
3-191934829-G-A FGF12 c.415-46384C>T - IntronicSNV - 3/4
2-136429707-G-A R3HDM1 c.2048-3195G>A - IntronicSNV - 18/25
6-33035877-A-C HLA-DPA1 c.*550T>G - IntronicSNV - 4/4
6-33035877-A-G HLA-DPA1 c.*550T>C - IntronicSNV - 4/4
12-56717466-C-G PAN2 c.2173-84G>C - IntronicSNV - 14/25
3-140696799-C-T SLC25A36 c.*1504C>T - 3-UTRSNV 7/7 -
14-78065539-T-A SPTLC2 c.133-1816A>T - IntronicSNV - 1/11
1-12305286-G-C VPS13D c.447+612G>C - IntronicSNV - 5/69
7-42053928-C-T GLI3 c.1497+9139G>A - IntronicSNV - 10/14
5-14681797-C-T OTULIN c.468+81C>T - IntronicSNV - 4/6
19-47692870-C-T SAE1 c.734-7620C>T - IntronicSNV - 6/8
2-136250285-C-T ZRANB3 c.161+11614G>A - IntronicSNV - 2/20
4-148763687-C-T ARHGAP10 c.313-4615C>T - IntronicSNV - 3/22
2-136001215-T-G ZRANB3 c.1540-12718A>C - IntronicSNV - 12/20
2-135693537-C-T CCNT2 c.241-874C>T - IntronicSNV - 2/8
2-136198435-C-A ZRANB3 c.162-50045G>T - IntronicSNV - 2/20
8-10549767-A-G C8orf74 c.242-5342A>G - IntronicSNV - 2/3
2-135231203-T-C TMEM163 c.556-7407A>G - IntronicSNV - 5/7
2-136276305-T-C ZRANB3 c.-8+12392A>G - intron_variant - 1/20
2-135392958-G-C TMEM163 c.322+77812C>G - IntronicSNV - 2/7
17-72673549-G-A RAB37 c.72+5752G>A - IntronicSNV - 1/8
12-50847810-A-G LARP4 c.1018-287A>G - IntronicSNV - 9/15
5-32131204-G-C GOLPH3 c.473-4462C>G - IntronicSNV - 3/3
10-93000211-G-A PCGF5 c.113-30G>A - IntronicSNV - 2/9
10-93000211-G-T PCGF5 c.113-30G>T - IntronicSNV - 2/9
2-136187345-C-T ZRANB3 c.162-38955G>A - IntronicSNV - 2/20
2-135997275-C-A ZRANB3 c.1540-8778G>T - IntronicSNV - 12/20
6-33050279-A-G HLA-DPB1 c.364+1567A>G - IntronicSNV - 2/5
6-15503575-C-T JARID2 c.2449-1156C>T - IntronicSNV - 8/17
15-29661095-T-A FAM189A1 c.276+12884A>T - IntronicSNV - 2/10
6-51735261-G-C PKHD1 c.7486+41C>G - IntronicSNV - 47/66
15-29661095-T-G FAM189A1 c.276+12884A>C - IntronicSNV - 2/10
6-109904031-C-T AK9 c.2114+2295G>A - IntronicSNV - 19/40
2-136420908-A-C R3HDM1 c.2047+1945A>C - IntronicSNV - 18/25
5-115887466-G-T SEMA6A c.-39+22415C>A - intron_variant - 1/18
5-115887466-G-A SEMA6A c.-39+22415C>T - intron_variant - 1/18
2-136733897-T-C DARS c.217+2947A>G - IntronicSNV - 3/15
4-48229886-A-G TEC c.138+608T>C - IntronicSNV - 2/17
11-11365991-A-G GALNT18 c.1093-3440T>C - IntronicSNV - 6/10
3-4461569-G-T SUMF1 c.602+179C>A - IntronicSNV - 4/8
3-4461569-G-A SUMF1 c.602+179C>T - IntronicSNV - 4/8
2-135958693-C-T ZRANB3 c.3142-683G>A - IntronicSNV - 20/20
15-72893022-C-G ARIH1 c.*17389C>G - IntergenicSNV 14/14 -
6-109928946-A-G AK9 c.1842+2622T>C - IntronicSNV - 17/40
1-240312435-C-T FMN2 c.1782+25790C>T - IntronicSNV - 2/17
11-11370093-A-G GALNT18 c.1093-7542T>C - IntronicSNV - 6/10
2-136214800-T-C ZRANB3 c.161+47099A>G - IntronicSNV - 2/20
9-4733379-G-A AK3 c.151+7558C>T - IntronicSNV - 1/4
9-4733379-G-C AK3 c.151+7558C>G - IntronicSNV - 1/4
2-135401339-T-A TMEM163 c.322+69431A>T - IntronicSNV - 2/7
9-130125184-G-A GARNL3 c.2095-2395G>A - IntronicSNV - 21/27
12-71529491-G-A TSPAN8 c.444+2242C>T - IntronicSNV - 6/8
3-186260740-A-T CRYGS c.21+1355T>A - IntronicSNV - 1/2
2-135763318-G-A MAP3K19 c.139-217C>T - IntronicSNV - 2/9
20-37238703-C-T ARHGAP40 c.137+7981C>T - IntronicSNV - 1/14
10-45878050-G-C ALOX5 c.270G>C p.Thr90Thr Synonymous 2/14 -
2-135849613-G-A RAB3GAP1 c.283+913G>A - IntronicSNV - 4/23
4-148779548-G-T ARHGAP10 c.486+743G>T - IntronicSNV - 5/22
4-148779548-G-C ARHGAP10 c.486+743G>C - IntronicSNV - 5/22
2-135925002-T-G RAB3GAP1 c.2710-1113T>G - IntronicSNV - 23/23
15-29638189-G-C FAM189A1 c.276+35790C>G - IntronicSNV - 2/10
2-136046601-T-C ZRANB3 c.967-13276A>G - IntronicSNV - 8/20
2-136711064-C-T DARS c.320+7902G>A - IntronicSNV - 4/15
2-136007349-T-C ZRANB3 c.1539+15755A>G - IntronicSNV - 12/20
6-76586197-C-A MYO6 c.2077+3180C>A - IntronicSNV - 20/34
18-57358418-T-A CCBE1 c.212+5443A>T - IntronicSNV - 2/10
1-208396156-T-C PLXNA2 c.1-4889A>G - IntronicSNV - 1/31
2-136545844-C-G LCT c.*50G>C - 3-UTRSNV 17/17 -
3-191932318-T-G FGF12 c.415-43873A>C - IntronicSNV - 3/4
18-46608271-A-T DYM c.1860+15501T>A - IntronicSNV - 16/16
18-46608271-A-G DYM c.1860+15501T>C - IntronicSNV - 16/16
1-182759592-G-T NPL c.-72+652G>T - intron_variant - 1/12
6-51720838-T-C PKHD1 c.7764A>G p.Leu2588Leu Synonymous 49/67 -
2-136147948-G-A ZRANB3 c.180+424C>T - IntronicSNV - 3/20
5-169266257-G-A DOCK2 c.2704-1504G>A - IntronicSNV - 26/51
5-169266257-G-C DOCK2 c.2704-1504G>C - IntronicSNV - 26/51
2-136418741-T-C R3HDM1 c.1924-99T>C - IntronicSNV - 17/25
1-12319994-G-T VPS13D c.1111-756G>T - IntronicSNV - 10/69
9-34425617-G-A FAM219A c.61-19655C>T - IntronicSNV - 1/5
2-136721603-A-G DARS c.218-2535T>C - IntronicSNV - 3/15
2-136721603-A-T DARS c.218-2535T>A - IntronicSNV - 3/15
2-163152022-G-A IFIH1 c.770-1844C>T - IntronicSNV - 3/15
4-148445429-A-C EDNRA c.421-11600A>C - IntronicSNV - 2/5
22-23625330-G-T BCR c.2116-834G>T - IntronicSNV - 8/22
8-19472837-A-C CSGALNACT1 c.-543-13461T>G - intron_variant - 1/9
1-241378595-C-T RGS7 c.79-116533G>A - IntronicSNV - 2/17
3-191947215-T-C FGF12 c.415-58770A>G - IntronicSNV - 3/4
2-136020977-A-C ZRANB3 c.1539+2127T>G - IntronicSNV - 12/20
11-117610854-G-A DSCAML1 c.511+36652C>T - intron_variant - 3/32
14-81495039-C-T TSHR c.171-33453C>T - IntronicSNV - 1/9
14-61961410-G-C PRKCH c.1433+9036G>C - IntronicSNV - 10/13
5-137876920-G-C ETF1 c.86+1602C>G - IntronicSNV - 2/10
14-51552126-G-T TRIM9 c.822+8710C>A - IntronicSNV - 1/9
16-53771162-T-C FTO c.45+33021T>C - IntronicSNV - 1/8
2-135876308-C-T RAB3GAP1 c.649-2081C>T - IntronicSNV - 7/23
20-57833662-G-A ZNF831 c.*3864G>A - 3-UTRSNV 5/5 -
2-218757417-T-G TNS1 c.407+254A>C - IntronicSNV - 9/32
2-135699619-T-C CCNT2 c.431-563T>C - IntronicSNV - 4/8
2-163128725-A-G IFIH1 c.2616+11T>C - IntronicSNV - 13/15
2-136068800-A-T ZRANB3 c.966+2259T>A - IntronicSNV - 8/20
2-136068800-A-G ZRANB3 c.966+2259T>C - IntronicSNV - 8/20
20-941312-G-T RSPO4 c.596-203C>A - IntronicSNV - 4/4
2-136723504-C-T DARS c.218-4436G>A - IntronicSNV - 3/15
3-191924614-A-C FGF12 c.415-36169T>G - IntronicSNV - 3/4
6-109994310-T-C AK9 c.182-940A>G - IntronicSNV - 3/40
3-191924614-A-G FGF12 c.415-36169T>C - IntronicSNV - 3/4
2-136133578-G-A ZRANB3 c.180+14794C>T - IntronicSNV - 3/20
2-136582694-T-G LCT c.805-1121A>C - IntronicSNV - 3/16
2-136080822-A-G ZRANB3 c.678-7722T>C - IntronicSNV - 6/20
1-155026114-C-T ADAM15 c.263+145C>T - IntronicSNV - 3/20
2-163152351-T-C IFIH1 c.770-2173A>G - IntronicSNV - 3/15
2-135370656-G-T TMEM163 c.323-60994C>A - IntronicSNV - 2/7
7-139670417-T-C TBXAS1 c.1134+8385T>C - intron_variant - 9/12
12-56417403-T-C IKZF4 c.88-52T>C - IntronicSNV - 1/7
8-18645308-G-A PSD3 c.2082+11497C>T - IntronicSNV - 8/15
2-136674028-A-G DARS c.960-86T>C - IntronicSNV - 10/15
6-109877759-T-A AK9 c.2752-6254A>T - IntronicSNV - 24/40
7-99220083-A-C ZSCAN25 c.590-89A>C - IntronicSNV - 5/7
22-33048216-T-G SYN3 c.709-55494A>C - IntronicSNV - 6/13
2-200147409-G-A SATB2 c.1741-10014C>T - IntronicSNV - 11/11
5-170305776-T-C RANBP17 c.165+529T>C - IntronicSNV - 2/27
2-135976498-A-G ZRANB3 c.2352+149T>C - IntronicSNV - 16/20
4-143575740-A-G INPP4B c.-290+71252T>C - intron_variant - 2/26
2-135093153-T-C MGAT5 c.574-635T>C - IntronicSNV - 4/15
7-139670417-T-A TBXAS1 c.1134+8385T>A - intron_variant - 9/12
6-109896308-G-A AK9 c.2192-1511C>T - IntronicSNV - 20/40
4-103497785-G-A NFKB1 c.408-248G>A - IntronicSNV - 6/23
15-91274575-G-T BLM c.-5+13904G>T - intron_variant - 1/21
9-129777653-A-T RALGPS1 c.217-19057A>T - IntronicSNV - 4/18
9-129777653-A-G RALGPS1 c.217-19057A>G - IntronicSNV - 4/18
7-78839317-C-T MAGI2 c.302-202795G>A - IntronicSNV - 1/21
2-136465856-T-C R3HDM1 c.2355-1147T>C - IntronicSNV - 20/25
5-115886945-G-A SEMA6A c.-39+22936C>T - intron_variant - 1/18
1-155059851-A-G EFNA3 c.*832A>G - 3-UTRSNV 5/5 -
17-75423198-C-A SEPT9 c.667+24413C>A - IntronicSNV - 2/10
2-135258363-A-G TMEM163 c.555+2109T>C - IntronicSNV - 5/7
17-75423198-C-T SEPT9 c.667+24413C>T - IntronicSNV - 2/10
2-135893372-A-G RAB3GAP1 c.1793A>G p.Asn598Ser Missense 17/24 -
2-136582694-T-C LCT c.805-1121A>G - IntronicSNV - 3/16
2-135893372-A-C RAB3GAP1 c.1793A>C p.Asn598Thr Missense 17/24 -
2-136123848-G-A ZRANB3 c.181-12650C>T - IntronicSNV - 3/20
2-136455296-A-G R3HDM1 c.2355-11707A>G - IntronicSNV - 20/25
11-103835243-A-G PDGFD c.511-16791T>C - IntronicSNV - 3/6
11-103835243-A-T PDGFD c.511-16791T>A - IntronicSNV - 3/6
2-135722328-A-G MAP3K19 c.*92T>C - 3-UTRSNV 10/10 -
2-175300997-G-A GPR155 c.2460C>T p.Asn820Asn Synonymous 16/16 -
2-136423904-C-T R3HDM1 c.2047+4941C>T - IntronicSNV - 18/25
11-8186677-A-G RIC3 c.124+3736T>C - IntronicSNV - 1/5
17-75427551-T-C SEPT9 c.667+28766T>C - IntronicSNV - 2/10
7-99435739-A-T CYP3A43 c.166-561A>T - IntronicSNV - 2/9
7-99435739-A-C CYP3A43 c.166-561A>C - IntronicSNV - 2/9
7-99435739-A-G CYP3A43 c.166-561A>G - IntronicSNV - 2/9
5-132013179-C-G IL4 c.184-2227C>G - IntronicSNV - 2/3
3-140696799-C-A SLC25A36 c.*1504C>A - 3-UTRSNV 7/7 -
19-6392078-A-G GTF2F1 c.60-93T>C - IntronicSNV - 2/12
15-72873727-T-C ARIH1 c.1476+395T>C - IntronicSNV - 12/13
11-117619027-C-A DSCAML1 c.511+28479G>T - intron_variant - 3/32
5-14750823-T-C ANKH c.687+355A>G - IntronicSNV - 5/11
5-169282375-C-T DOCK2 c.2799+14519C>T - IntronicSNV - 27/51
5-169282375-C-G DOCK2 c.2799+14519C>G - IntronicSNV - 27/51
16-297750-T-C FAM234A c.-139-1798T>C - intron_variant - 1/12
6-109976134-A-G AK9 c.759+1825T>C - IntronicSNV - 8/40
2-63474793-T-A WDPCP c.1915+11649A>T - IntronicSNV - 14/17
14-61961410-G-T PRKCH c.1433+9036G>T - IntronicSNV - 10/13
2-63474793-T-C WDPCP c.1915+11649A>G - IntronicSNV - 14/17
18-13447995-G-A LDLRAD4 c.181+9612G>A - IntronicSNV - 3/5
2-197979685-G-A ANKRD44 c.907-4117C>T - IntronicSNV - 8/9
6-33740382-G-A LEMD2 c.*23C>T - 3-UTRSNV 9/9 -
22-35779844-T-A HMOX1 c.144+625T>A - IntronicSNV - 2/4
18-6022693-A-C L3MBTL4 c.1471+24034T>G - IntronicSNV - 17/19
6-33766131-T-C MLN c.234+751A>G - IntronicSNV - 3/4
2-135077185-A-G MGAT5 c.573+875A>G - IntronicSNV - 4/15
6-109965474-G-A AK9 c.834+343C>T - IntronicSNV - 9/40
16-53760532-G-A FTO c.45+22391G>A - IntronicSNV - 1/8
1-12305286-G-A VPS13D c.447+612G>A - IntronicSNV - 5/69
17-73550047-A-G LLGL2 c.76-2080A>G - IntronicSNV - 2/24
18-66712510-A-C CCDC102B c.1435-8757A>C - IntronicSNV - 7/7
2-101595235-A-G NPAS2 c.1482+974A>G - IntronicSNV - 15/20
2-136292425-A-G R3HDM1 c.-250+3222A>G - intron_variant - 1/25
5-14750251-T-C ANKH c.688-836A>G - IntronicSNV - 5/11
18-66712510-A-G CCDC102B c.1435-8757A>G - IntronicSNV - 7/7
3-4355483-A-G SETMAR c.1020+38A>G - IntronicSNV - 2/2
2-136714178-A-G DARS c.320+4788T>C - IntronicSNV - 4/15
2-163137181-A-T IFIH1 c.1525-559T>A - IntronicSNV - 7/15
5-115166713-C-T ATG12 c.*788G>A - 3-UTRSNV 4/4 -
9-34423806-C-T FAM219A c.61-17844G>A - IntronicSNV - 1/5
2-135291135-C-T TMEM163 c.458+17006G>A - IntronicSNV - 4/7
2-136472107-A-G R3HDM1 c.2632-1013A>G - IntronicSNV - 22/25
8-16932100-G-A MICU3 c.568-3192G>A - IntronicSNV - 3/14
6-33754396-A-G LEMD2 c.777+115T>C - IntronicSNV - 2/8
2-135966669-T-G ZRANB3 c.2496-121A>C - IntronicSNV - 17/20
2-135165813-T-G MGAT5 c.1531-4627T>G - IntronicSNV - 11/15
2-135129865-T-A MGAT5 c.1380+9886T>A - IntronicSNV - 10/15
2-135389197-A-G TMEM163 c.323-79535T>C - IntronicSNV - 2/7
22-33050136-G-A SYN3 c.709-57414C>T - IntronicSNV - 6/13
20-32873447-G-A AHCY c.973-7C>T - IntronicSNV - 8/9
19-56626448-A-T ZNF787 c.-11+6093T>A - intron_variant - 1/2
19-56626448-A-C ZNF787 c.-11+6093T>G - intron_variant - 1/2
1-197401180-G-A CRB1 c.2842+2436G>A - IntronicSNV - 8/11
1-1198618-T-A UBE2J2 c.172+108A>T - IntronicSNV - 3/6
12-54418920-G-A HOXC4 c.-124+7722G>A - intron_variant - 1/3
2-136388473-T-C R3HDM1 c.498-815T>C - IntronicSNV - 7/25
12-123049746-G-T KNTC1 c.1604+2500G>T - IntronicSNV - 20/63
5-14745268-T-C ANKH c.915+711A>G - IntronicSNV - 7/11
20-18733678-A-G DTD1 c.*8782A>G - IntronicSNV - 5/5
1-185881528-A-G HMCN1 c.900+616A>G - IntronicSNV - 6/106
3-185805993-C-T ETV5 c.233-7029G>A - IntronicSNV - 5/12
2-135984721-G-A ZRANB3 c.2158+661C>T - IntronicSNV - 14/20
3-191981960-A-G FGF12 c.414+71190T>C - IntronicSNV - 3/4
4-148821136-A-T ARHGAP10 c.1035-6653A>T - IntronicSNV - 10/22
5-169253781-A-G DOCK2 c.2704-13980A>G - IntronicSNV - 26/51
5-115892364-C-A SEMA6A c.-39+17517G>T - intron_variant - 1/18
5-14747247-C-T ANKH c.823-1176G>A - IntronicSNV - 6/11
2-136344372-G-C R3HDM1 c.-249-15698G>C - intron_variant - 1/25
2-136344372-G-A R3HDM1 c.-249-15698G>A - intron_variant - 1/25
11-3659993-G-T ART5 c.851C>A p.Thr284Lys Missense 4/4 -
4-40461712-G-A RBM47 c.-32+6882C>T - intron_variant - 2/4
2-135243175-T-A TMEM163 c.555+17297A>T - IntronicSNV - 5/7
2-136672775-C-G DARS c.1107-694G>C - IntronicSNV - 11/15
5-137903084-A-G HSPA9 c.716+60T>C - IntronicSNV - 7/16
2-136092869-G-T ZRANB3 c.677+10251C>A - IntronicSNV - 6/20
2-135124303-G-T MGAT5 c.1380+4324G>T - IntronicSNV - 10/15
5-170449872-C-G RANBP17 c.1710+54491C>G - IntronicSNV - 14/27
5-32133463-G-T GOLPH3 c.472+2215C>A - IntronicSNV - 3/3
14-21978262-T-C METTL3 c.100+1004A>G - IntronicSNV - 1/10
11-3659993-G-A ART5 c.851C>T p.Thr284Met Missense 4/4 -
2-135347885-T-C TMEM163 c.323-38223A>G - IntronicSNV - 2/7
4-140643064-A-G MAML3 c.2417-1587T>C - IntronicSNV - 4/4
2-135781035-C-T MAP3K19 c.22+1161G>A - IntronicSNV - 1/9
2-136672775-C-T DARS c.1107-694G>A - IntronicSNV - 11/15
6-39307514-T-G KIF6 c.2429-3190A>C - IntronicSNV - 22/22
11-8088757-C-T TUB c.204-22400C>T - IntronicSNV - 2/12
11-8088757-C-A TUB c.204-22400C>A - IntronicSNV - 2/12
2-136288403-G-A ZRANB3 c.-8+294C>T - intron_variant - 1/20
2-136694905-T-C DARS c.424-3345A>G - IntronicSNV - 5/15
12-111502280-C-T CUX2 c.63+30236C>T - IntronicSNV - 1/21
6-131991532-G-T ENPP3 c.563-856G>T - IntronicSNV - 6/24
7-107623496-T-C LAMB1 c.677-2240A>G - IntronicSNV - 7/33
2-136221500-C-A ZRANB3 c.161+40399G>T - IntronicSNV - 2/20
5-170296592-G-A RANBP17 c.18+7537G>A - IntronicSNV - 1/27
3-184066615-A-G CLCN2 c.2365-1806T>C - IntronicSNV - 22/23
5-115885672-G-T SEMA6A c.-39+24209C>A - intron_variant - 1/18
5-115885672-G-A SEMA6A c.-39+24209C>T - intron_variant - 1/18
2-135887893-T-C RAB3GAP1 c.1067-229T>C - IntronicSNV - 12/23
16-76523792-A-C CNTNAP4 c.2077+12A>C - intron_variant - 14/24
2-135082689-T-C MGAT5 c.573+6379T>C - IntronicSNV - 4/15
6-35274430-C-T DEF6 c.97-3017C>T - IntronicSNV - 1/10
3-182672036-T-C DCUN1D1 c.521-6616A>G - IntronicSNV - 4/6
3-30032530-A-G RBMS3 c.1126-43A>G - IntronicSNV - 12/13
3-30032530-A-C RBMS3 c.1126-43A>C - IntronicSNV - 12/13
6-109870688-T-C AK9 c.2964+605A>G - IntronicSNV - 25/40
6-109870688-T-A AK9 c.2964+605A>T - IntronicSNV - 25/40
9-130064972-G-T GARNL3 c.220-8943G>T - IntronicSNV - 2/27
17-72673549-G-T RAB37 c.72+5752G>T - IntronicSNV - 1/8
5-115888195-T-C SEMA6A c.-39+21686A>G - intron_variant - 1/18
1-176453688-G-T PAPPA2 c.-917+21134G>T - intron_variant - 1/22
2-163148072-C-T IFIH1 c.874+2002G>A - IntronicSNV - 4/15
10-102053992-C-T PKD2L1 c.1659+300G>A - IntronicSNV - 9/15
10-102053992-C-A PKD2L1 c.1659+300G>T - IntronicSNV - 9/15
1-182798924-G-T NPL c.*881G>T - 3-UTRSNV 13/13 -
6-44228162-G-A NFKBIE c.780+26C>T - intron_variant - 4/5
2-135780168-A-T MAP3K19 c.23-768T>A - IntronicSNV - 1/9
2-163123704-C-T IFIH1 c.*6G>A - 3-UTRSNV 16/16 -
2-135780168-A-G MAP3K19 c.23-768T>C - IntronicSNV - 1/9
4-140616874-G-A MGST2 c.229+453G>A - IntronicSNV - 3/4
2-136157913-T-C ZRANB3 c.162-9523A>G - IntronicSNV - 2/20
2-136219831-G-A ZRANB3 c.161+42068C>T - IntronicSNV - 2/20
9-129984107-G-A RALGPS1 c.*3059G>A - 3-UTRSNV 19/19 -
10-45878050-G-A ALOX5 c.270G>A p.Thr90Thr Synonymous 2/14 -
6-109877759-T-C AK9 c.2752-6254A>G - IntronicSNV - 24/40
5-32592736-A-G SUB1 c.195+945A>G - IntronicSNV - 3/4
2-135289232-G-T TMEM163 c.458+18909C>A - IntronicSNV - 4/7
5-139060486-G-T CXXC5 c.378G>T p.Ala126Ala Synonymous 2/3 -
11-4098252-G-T STIM1 c.969+2343G>T - IntronicSNV - 7/11
20-37232009-A-G ARHGAP40 c.137+1287A>G - IntronicSNV - 1/14
14-78298732-C-G ADCK1 c.219+9871C>G - IntronicSNV - 3/10
14-78298732-C-T ADCK1 c.219+9871C>T - IntronicSNV - 3/10
14-32330260-A-C NUBPL c.*1874A>C - 3-UTRSNV 11/11 -
1-155059851-A-T EFNA3 c.*832A>T - 3-UTRSNV 5/5 -
14-32330260-A-G NUBPL c.*1874A>G - 3-UTRSNV 11/11 -
5-170296592-G-T RANBP17 c.18+7537G>T - IntronicSNV - 1/27
2-136604210-C-T MCM6 c.2054-248G>A - IntronicSNV - 14/16
18-25576002-C-T CDH2 c.1021-2401G>A - IntronicSNV - 7/15
6-109847992-G-A AK9 c.3633+2222C>T - IntronicSNV - 29/40
4-143575740-A-T INPP4B c.-290+71252T>A - intron_variant - 2/26
2-135430621-A-G TMEM163 c.322+40149T>C - IntronicSNV - 2/7