PMID: 27322064

A Genome-Wide mQTL Analysis in Human Adipose Tissue Identifies Genetic Variants Associated with DNA Methylation, Gene Expression and Metabolic Traits.

PloS one
P Volkov, AH Olsson, L Gillberg, SW Jørgensen, C Brøns, KF Eriksson, L Groop, PA Jansson, E Nilsson, T Rönn, A Vaag, C Ling
2016

2197 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-219338789-T-G USP37 c.2299+564A>C - IntronicSNV - 20/25
17-30311492-G-T SUZ12 c.1023+1369G>T - IntronicSNV - 9/15
6-32154285-A-G PBX2 c.1201-34T>C - IntronicSNV - 8/8
2-55843413-C-T PPP4R3B c.142-771G>A - intron_variant - 1/14
17-78676905-T-C RPTOR c.349-4736T>C - IntronicSNV - 3/33
17-41328095-A-T NBR1 c.102+177A>T - IntronicSNV - 2/20
17-41328095-A-G NBR1 c.102+177A>G - IntronicSNV - 2/20
X-117925898-A-G IL13RA1 c.*81A>G - 3-UTRSNV 11/11 -
6-46675025-C-A PLA2G7 c.1040+703G>T - IntronicSNV - 10/11
8-38853983-C-A TM2D2 c.-543G>T - 5_prime_UTR_variant 1/4 -
X-44191332-G-A EFHC2 c.42+11461C>T - IntronicSNV - 1/14
2-178682655-A-G PDE11A c.245-3T>C - IntronicSNV - 4/16
1-231531627-T-C EGLN1 c.892-21782A>G - IntronicSNV - 1/4
3-105469882-T-C CBLB c.723+424A>G - IntronicSNV - 5/18
11-47650993-C-T MTCH2 c.540-395G>A - IntronicSNV - 8/12
1-85719610-T-C C1orf52 c.476-1225A>G - IntronicSNV - 2/2
19-33157003-C-T ANKRD27 c.1-7082G>A - IntronicSNV - 1/28
10-34461345-A-G PARD3 c.3429-40834T>C - IntronicSNV - 22/24
15-83428193-G-A FSD2 c.2157C>T p.His719His Synonymous 13/13 -
15-83428193-G-T FSD2 c.2157C>A p.His719Gln Missense 13/13 -
4-120491714-A-G PDE5A c.832-3415T>C - IntronicSNV - 3/20
6-32134656-T-C EGFL8 c.335-31T>C - IntronicSNV - 4/8
1-109389021-C-T AKNAD1 c.1245+2353G>A - IntronicSNV - 5/15
12-121157604-G-A UNC119B c.644-119G>A - IntronicSNV - 4/4
1-150659545-G-A GOLPH3L c.183+7587C>T - IntronicSNV - 2/4
7-44085535-T-C DBNL c.83+1116T>C - IntronicSNV - 1/12
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
19-33105743-G-A ANKRD27 c.2175+821C>T - IntronicSNV - 22/28
6-31947460-G-T STK19 c.803+130G>T - IntronicSNV - 5/7
12-88949124-G-A KITLG c.16-9482C>T - IntronicSNV - 1/8
17-4763551-T-G MINK1 c.58-18061T>G - IntronicSNV - 1/30
16-89553707-A-C ANKRD11 c.-145+2946T>G - intron_variant - 1/12
16-89553707-A-G ANKRD11 c.-145+2946T>C - intron_variant - 1/12
3-46299765-A-G CCR3 c.1-6130A>G - IntronicSNV - 1/2
8-80841972-T-A MRPS28 c.396-10589A>T - IntronicSNV - 2/2
6-146257761-G-T SHPRH c.2570-1184C>A - IntronicSNV - 11/29
6-146257761-G-C SHPRH c.2570-1184C>G - IntronicSNV - 11/29
8-38840300-T-C HTRA4 c.1173-172T>C - IntronicSNV - 7/8
2-69042093-T-C ARHGAP25 c.784-1328T>C - IntronicSNV - 5/9
2-69042093-T-G ARHGAP25 c.784-1328T>G - IntronicSNV - 5/9
15-42846553-C-A HAUS2 c.94-3843C>A - IntronicSNV - 1/5
15-78837801-G-A PSMA4 c.377-175G>A - IntronicSNV - 6/8
1-78578177-T-C GIPC2 c.608-6900T>C - IntronicSNV - 3/5
11-117731136-G-A FXYD6-FXYD2 c.-6+16171C>T - intron_variant - 1/10
20-44333052-A-G WFDC13 c.89-31A>G - IntronicSNV - 1/3
1-150679033-G-A HORMAD1 c.800C>T p.Thr267Ile Missense 10/15 -
1-182358358-A-G GLUL c.1-486T>C - IntronicSNV 1/8 -
1-182358358-A-C GLUL c.1-486T>G - IntronicSNV 1/8 -
2-198713231-G-A PLCL1 c.240+43168G>A - IntronicSNV - 1/5
6-31084964-T-C CDSN c.428A>G p.Asn143Ser Missense 2/2 -
2-136707480-A-G DARS c.321-6430T>C - IntronicSNV - 4/15
11-126082218-C-T FAM118B c.-77+493C>T - intron_variant - 1/8
12-121160615-A-C UNC119B c.*2780A>C - 3-UTRSNV 5/5 -
12-121160615-A-G UNC119B c.*2780A>G - 3-UTRSNV 5/5 -
5-177020032-G-A TMED9 c.285+356G>A - IntronicSNV - 2/4
17-44108100-C-G KANSL1 c.*742G>C - 3-UTRSNV 15/15 -
1-43416133-T-C SLC2A1 c.19-7141A>G - IntronicSNV - 1/9
6-32191620-C-T NOTCH4 c.73+13G>A - IntronicSNV - 1/29
12-129556460-T-C TMEM132D c.*1960A>G - 3-UTRSNV 9/9 -
16-89488587-T-G ANKRD11 c.-144-3811A>C - intron_variant - 1/12
16-89488587-T-A ANKRD11 c.-144-3811A>T - intron_variant - 1/12
12-123799974-A-C SBNO1 c.3063T>G p.Gly1021Gly Synonymous 23/32 -
15-83219340-G-A CPEB1 c.1201-932C>T - IntronicSNV - 8/11
2-219147245-T-C TMBIM1 c.1-381A>G - IntronicSNV - 1/11
2-219147245-T-G TMBIM1 c.1-381A>C - IntronicSNV - 1/11
17-41196408-G-A BRCA1 c.*1287C>T - 3-UTRSNV 23/23 -
7-99691747-C-G MCM7 c.1320+49G>C - IntronicSNV - 12/13
7-99691747-C-A MCM7 c.1320+49G>T - IntronicSNV - 12/13
6-31237406-G-T HLA-C c.1016-104C>A - IntronicSNV - 5/7
6-31237406-G-A HLA-C c.1016-104C>T - IntronicSNV - 5/7
4-120522038-T-C PDE5A c.742-4271A>G - IntronicSNV - 2/20
4-174165126-C-G GALNT7 c.127-4005C>G - IntronicSNV - 1/11
4-174165126-C-T GALNT7 c.127-4005C>T - IntronicSNV - 1/11
11-133811160-C-T IGSF9B c.409+2955G>A - IntronicSNV - 3/19
16-9938796-C-T GRIN2A c.1329-3835G>A - IntronicSNV - 6/13
21-44269654-C-T WDR4 c.*505G>A - 3-UTRSNV 11/11 -
11-870446-G-A CHID1 c.1013C>T p.Ala338Val Missense 11/13 -
2-219349752-C-T USP37 c.1670+635G>A - IntronicSNV - 16/25
1-67442275-C-T MIER1 c.994-3C>T - IntronicSNV - 12/14
18-31316169-C-T ASXL3 c.1082+1790C>T - IntronicSNV - 10/11
2-234637569-A-G UGT1A4 c.867+9236A>G - IntronicSNV - 1/4
2-86296566-C-T POLR1A c.1866+575G>A - IntronicSNV - 13/33
6-33055242-C-T HLA-DPB1 c.*1227C>T - 3-UTRSNV 6/6 -
4-57797414-C-T REST c.2390C>T p.Pro797Leu Missense 4/4 -
6-133138010-T-C RPS12 c.235-89T>C - IntronicSNV - 4/5
4-120502461-T-C PDE5A c.832-14162A>G - IntronicSNV - 3/20
7-45757343-G-A ADCY1 c.*3749G>A - 3-UTRSNV 20/20 -
8-22200148-A-C PIWIL2 c.2404-10324A>C - IntronicSNV - 20/22
8-22200148-A-G PIWIL2 c.2404-10324A>G - IntronicSNV - 20/22
6-31929014-A-C SKIV2L c.640A>C p.Met214Leu Missense 8/28 -
17-80627639-G-A RAB40B c.143-5207C>T - IntronicSNV - 1/5
5-74490547-T-C ANKRD31 c.1017+909A>G - IntronicSNV - 7/24
11-118492591-G-A PHLDB1 c.356-3059G>A - IntronicSNV - 5/23
3-195048814-A-G ACAP2 c.670-1126T>C - IntronicSNV - 8/22
22-30736147-G-A SF3A1 c.1375+38C>T - IntronicSNV - 9/15
10-124235059-G-A HTRA1 c.473-13359G>A - IntronicSNV - 1/8
6-30879987-C-T GTF2H4 c.958+64C>T - IntronicSNV - 10/13
18-77501317-G-A CTDP1 c.2747+4796G>A - IntronicSNV - 12/12
9-123683982-G-T TRAF1 c.228+2001C>A - IntronicSNV - 3/7
1-85902045-C-T DDAH1 c.-7+59804G>A - intron_variant - 2/6
17-40817448-G-T TUBG2 c.607-46G>T - IntronicSNV - 6/10
11-108724639-G-A DDX10 c.2304+1703G>A - IntronicSNV - 16/17
6-32050758-C-T TNXB c.3446-655G>A - IntronicSNV - 8/43
6-32050758-C-A TNXB c.3446-655G>T - IntronicSNV - 8/43
7-1125893-A-T C7orf50 c.129+41000T>A - IntronicSNV - 2/4
17-10081297-G-A GAS7 c.183+20228C>T - IntronicSNV - 1/13
2-240009080-T-C HDAC4 c.2429+175A>G - IntronicSNV - 19/26
7-99983135-C-T PILRA c.455-4376C>T - IntronicSNV - 2/6
1-231477442-A-G SPRTN c.321+1828A>G - IntronicSNV - 2/4
8-22169087-A-G PIWIL2 c.1989+274A>G - IntronicSNV - 16/22
10-94374377-C-G KIF11 c.1032+1001C>G - IntronicSNV - 8/21
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
17-78057851-G-A CCDC40 c.1990-691G>A - IntronicSNV - 12/17
4-6957332-G-A TBC1D14 c.723-11699G>A - IntronicSNV - 2/13
17-76495050-C-T DNAH17 c.5745+40G>A - IntronicSNV - 37/80
1-202733238-C-T KDM5B c.747G>A p.Thr249Thr Synonymous 6/27 -
10-124234880-C-A HTRA1 c.472+13240C>A - IntronicSNV - 1/8
X-44191892-C-T EFHC2 c.42+10901G>A - IntronicSNV - 1/14
6-31505480-A-G DDX39B c.433-1020T>C - IntronicSNV - 4/10
6-166877532-C-T RPS6KA2 c.973-4493G>A - IntronicSNV - 11/20
17-43493101-G-A ARHGAP27 c.1-10018C>T - IntronicSNV - 1/16
7-75611149-G-A POR c.731+225G>A - IntronicSNV - 7/15
6-29648506-G-A ZFP57 c.-364+333C>T - intron_variant - 1/4
12-75785100-C-T GLIPR1L2 c.204C>T p.Val68Val Synonymous 1/4 -
6-31851234-A-G EHMT2 c.2917-18T>C - IntronicSNV - 22/27
6-30652781-C-T PPP1R18 c.1015G>A p.Gly339Arg Missense 1/3 -
4-48999842-G-T CWH43 c.714-635G>T - IntronicSNV - 5/15
1-21024743-G-A KIF17 c.1233+129C>T - IntronicSNV - 6/14
19-33164759-C-T ANKRD27 c.-31+1218G>A - intron_variant - 1/28
X-106462267-C-T PIH1D3 c.332+68C>T - IntronicSNV - 4/6
4-120155096-C-T USP53 c.1-5819C>T - IntronicSNV - 3/17
7-100072031-T-C TSC22D4 c.795A>G p.Pro265Pro Synonymous 3/5 -
13-25009297-G-T PARP4 c.3982C>A p.Pro1328Thr Missense 31/34 -
10-3148116-C-T PFKP c.774+423C>T - IntronicSNV - 7/21
2-3668126-C-A COLEC11 c.202+7154C>A - IntronicSNV - 3/6
2-3668126-C-T COLEC11 c.202+7154C>T - IntronicSNV - 3/6
2-191366579-T-G MFSD6 c.*1635T>G - 3-UTRSNV 8/8 -
16-17469494-T-G XYLT1 c.364-17587A>C - IntronicSNV - 1/11
6-33613344-G-A ITPR3 c.160+5013G>A - IntronicSNV - 2/57
1-1721479-C-T GNB1 c.699+355G>A - IntronicSNV - 9/11
3-15873052-C-T ANKRD28 c.27+27832G>A - IntronicSNV - 1/27
15-81533378-G-A IL16 c.312+15326G>A - IntronicSNV - 2/18
17-10617234-G-A TMEM220 c.*1536C>T - 3-UTRSNV 6/6 -
11-108673298-C-T DDX10 c.1966-35875C>T - IntronicSNV - 13/17
6-31918860-A-G CFB c.1856-61A>G - IntronicSNV - 14/17
6-96999725-C-T UFL1 c.1911C>T p.Asp637Asp Synonymous 17/19 -
7-99998607-G-A ZCWPW1 c.*30C>T - 3-UTRSNV 18/18 -
16-461762-T-C DECR2 c.*1-128T>C - intron_variant - 8/8
6-31636742-A-G CSNK2B c.292-132A>G - IntronicSNV - 4/6
4-174130503-T-C GALNT7 c.127-38628T>C - IntronicSNV - 1/11
4-174130503-T-G GALNT7 c.127-38628T>G - IntronicSNV - 1/11
17-80680449-G-T FN3KRP c.386-231G>T - IntronicSNV - 3/5
9-6956850-A-C KDM4C c.922-24075A>C - IntronicSNV - 8/21
12-49318800-G-C FKBP11 c.195+29C>G - IntronicSNV - 2/5
3-134205071-G-T CEP63 c.-425G>T - 5_prime_UTR_variant 1/16 -
19-49991789-C-T RPL13A c.-93+888C>T - intron_variant - 1/6
1-231535584-C-T EGLN1 c.891+21160G>A - IntronicSNV - 1/4
1-231535584-C-G EGLN1 c.891+21160G>C - IntronicSNV - 1/4
10-94294291-A-G IDE c.491+44T>C - IntronicSNV - 3/24
19-50028040-T-A FCGRT c.871+7T>A - IntronicSNV - 5/6
19-50028040-T-G FCGRT c.871+7T>G - IntronicSNV - 5/6
10-88530481-C-A BMPR1A c.-268+13805C>A - intron_variant - 1/12
7-30544360-G-A GGCT c.1-35C>T - 5-UTRSNV 1/4 -
2-198572461-C-T MARS2 c.*550C>T - 3-UTRSNV 1/1 -
11-55703728-A-G OR5I1 c.149T>C p.Leu50Ser Missense 1/1 -
8-145031265-G-T PLEC c.193+18080C>A - IntronicSNV - 2/32
8-145031265-G-A PLEC c.193+18080C>T - IntronicSNV - 2/32
14-90754006-G-A NRDE2 c.3158+555C>T - IntronicSNV - 11/13
3-129201692-A-G IFT122 c.1477-636A>G - IntronicSNV - 13/28
6-32050544-C-T TNXB c.3446-441G>A - IntronicSNV - 8/43
1-202696247-C-G KDM5B c.*1917G>C - IntergenicSNV 27/27 -
1-202696247-C-T KDM5B c.*1917G>A - IntergenicSNV 27/27 -
18-77458037-T-C CTDP1 c.621+49T>C - IntronicSNV - 4/12
6-29408528-A-T OR10C1 c.736A>T p.Met246Leu Missense 1/1 -
6-29408528-A-G OR10C1 c.736A>G p.Met246Val Missense 1/1 -
6-29408528-A-C OR10C1 c.736A>C p.Met246Leu Missense 1/1 -
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
16-2740841-A-G KCTD5 c.253-5095A>G - IntronicSNV - 1/5
8-22147333-A-G PIWIL2 c.987-27A>G - IntronicSNV - 8/22
6-33162082-T-A RXRB c.*377A>T - 3-UTRSNV 10/10 -
8-145618309-G-A ADCK5 c.*20G>A - 3-UTRSNV 15/15 -
5-176823647-G-A SLC34A1 c.1175-87G>A - IntronicSNV - 10/12
7-1868092-A-G MAD1L1 c.1999-12228T>C - IntronicSNV - 18/18
6-31137165-A-G POU5F1 c.405+828T>C - IntronicSNV - 1/4
9-138947167-A-C NACC2 c.1-4800T>G - IntronicSNV - 1/5
9-138947167-A-G NACC2 c.1-4800T>C - IntronicSNV - 1/5
1-230820021-A-G COG2 c.1228+640A>G - IntronicSNV - 11/17
9-140205159-T-A EXD3 c.2185-1007A>T - IntronicSNV - 19/21
6-46623698-T-C SLC25A27 c.225T>C p.Ala75Ala Synonymous 2/9 -
2-219126651-C-T GPBAR1 c.1-797C>T - IntronicSNV 1/2 -
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
6-133135807-C-T RPS12 c.-38+55C>T - intron_variant - 1/5
1-25688276-A-G TMEM50A c.*1080A>G - 3-UTRSNV 7/7 -
1-25688276-A-T TMEM50A c.*1080A>T - 3-UTRSNV 7/7 -
17-30361629-T-C LRRC37B c.1977-300T>C - IntronicSNV - 5/11
6-25830298-A-G SLC17A1 c.34+454T>C - IntronicSNV - 2/12
16-10232086-A-C GRIN2A c.414+41769T>G - IntronicSNV - 3/13
2-132234986-A-G TUBA3D c.4-751A>G - IntronicSNV - 1/4
1-111682118-C-T DRAM2 c.-79+542G>A - intron_variant - 1/8
8-38901877-T-C ADAM9 c.1302+2241T>C - IntronicSNV - 12/21
17-44865439-T-G WNT3 c.81-14164A>C - IntronicSNV - 1/4
17-14048767-G-A COX10 c.625-14427G>A - IntronicSNV - 4/6
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
11-77774599-T-C NDUFC2-KCTD14 c.310+9445A>G - IntronicSNV - 2/3
6-26104280-T-C HIST1H4C c.105T>C p.Ile35Ile Synonymous 1/1 -
9-136536633-G-A SARDH c.2326+24C>T - IntronicSNV - 18/20
10-12677614-T-C CAMK1D c.225-31121T>C - IntronicSNV - 2/9
18-44700703-A-G IER3IP1 c.91+1855T>C - IntronicSNV - 1/2
6-32171075-A-G NOTCH4 c.3231+472T>C - IntronicSNV - 20/29
19-41932612-C-G B3GNT8 c.72G>C p.Glu24Asp Missense 3/3 -
7-44112529-A-G POLM c.*361T>C - 3-UTRSNV 11/11 -
19-33140381-A-G ANKRD27 c.213+207T>C - IntronicSNV - 3/28
6-116263181-T-C FRK c.*396A>G - 3-UTRSNV 8/8 -
3-41996136-T-C ULK4 c.116A>G p.Lys39Arg Missense 2/37 -
16-67879400-G-A CENPT c.-492+1904C>T - intron_variant - 1/15
6-30041009-A-G RNF39 c.607T>C p.Ser203Pro Missense 3/5 -
6-116309649-T-C FRK c.466+15391A>G - IntronicSNV - 2/7
10-12673810-T-C CAMK1D c.225-34925T>C - IntronicSNV - 2/9
8-48322002-T-C SPIDR c.877+1479T>C - IntronicSNV - 7/19
2-188243633-A-G CALCRL c.500+34T>C - IntronicSNV - 8/14
17-44073889-A-G MAPT c.1632A>G p.Ala544Ala Synonymous 10/14 -
6-31917540-T-C CFB c.1408+206T>C - IntronicSNV - 10/17
13-44078678-A-C ENOX1 c.-218-20390T>G - intron_variant - 2/16
1-150792616-A-G ARNT c.1350-2110T>C - IntronicSNV - 13/20
6-33056897-C-T HLA-DPB1 c.*2586C>T - 3_prime_UTR_variant 6/6 -
2-198925980-A-G PLCL1 c.241-22502A>G - IntronicSNV - 1/5
2-132248876-A-G MZT2A c.319+573T>C - IntronicSNV - 2/2
3-158314188-T-C MLF1 c.196-463T>C - IntronicSNV - 2/6
2-171920785-C-G TLK1 c.331-3119G>C - IntronicSNV - 3/20
19-9766035-C-T ZNF562 c.132+1188G>A - IntronicSNV - 3/3
13-53191674-A-C HNRNPA1L2 c.-1004A>C - 5_prime_UTR_variant 1/7 -
13-53191674-A-G HNRNPA1L2 c.-1004A>G - 5_prime_UTR_variant 1/7 -
12-109514942-T-C USP30 c.720+3605T>C - IntronicSNV - 7/12
13-44095877-C-T ENOX1 c.-218-37589G>A - intron_variant - 2/16
7-1886937-C-T MAD1L1 c.1999-31073G>A - IntronicSNV - 18/18
14-72665647-T-G RGS6 c.85-153156T>G - IntronicSNV - 2/17
14-72665647-T-C RGS6 c.85-153156T>C - IntronicSNV - 2/17
6-30080231-G-A TRIM31 c.352C>T p.Arg118Cys Missense 2/9 -
6-30080231-G-C TRIM31 c.352C>G p.Arg118Gly Missense 2/9 -
6-30080231-G-T TRIM31 c.352C>A p.Arg118Ser Missense 2/9 -
17-6515387-A-G KIAA0753 c.1397T>C p.Leu466Pro Missense 8/19 -
18-56362913-G-A MALT1 c.377-685G>A - IntronicSNV - 2/16
6-31133943-C-A POU5F1 c.406-119G>T - IntronicSNV - 1/4
3-69383013-A-G FRMD4B c.163-20345T>C - IntronicSNV - 1/22
3-69383013-A-T FRMD4B c.163-20345T>A - IntronicSNV - 1/22
8-11643803-C-A NEIL2 c.*21C>A - 3-UTRSNV 5/5 -
4-91516422-C-T CCSER1 c.1725-32754C>T - IntronicSNV - 5/10
6-31377047-C-T MICA c.71-1273C>T - IntronicSNV - 1/5
6-170152991-G-A ERMARD c.7-969G>A - IntronicSNV - 1/17
1-237048676-G-T MTR c.2775+157G>T - IntronicSNV - 26/32
1-150677719-C-T HORMAD1 c.805-900G>A - IntronicSNV - 10/14
5-81297077-A-G ATG10 c.108+13580A>G - IntronicSNV - 3/8
10-104846797-C-T CNNM2 c.*9860C>T - IntergenicSNV 8/8 -
15-50806469-C-T USP8 c.*15184C>T - IntergenicSNV 20/20 -
1-26621101-G-A UBXN11 c.334-279C>T - IntronicSNV - 7/14
16-4942099-C-T PPL c.1766G>A p.Arg589Gln Missense 15/22 -
6-33048661-A-G HLA-DPB1 c.313A>G p.Met105Val Missense 2/6 -
1-76210289-C-T ACADM c.600-1202C>T - IntronicSNV - 7/11
1-202760658-T-C KDM5B c.205-14436A>G - IntronicSNV - 1/26
11-47529947-C-A CELF1 c.1-19381G>T - IntronicSNV - 1/13
19-44564671-CT-GC ZNF223 c.79_80delCTinsGC p.Leu27Ala Missense 3/5 -
1-151173113-A-G PIP5K1A c.85+1556A>G - IntronicSNV - 1/14
7-99792666-A-G STAG3 c.868-266A>G - IntronicSNV - 8/33
11-108437928-T-G EXPH5 c.120-25389A>C - IntronicSNV - 1/5
6-32407709-C-A HLA-DRA c.1-19C>A - 5-UTRSNV 1/5 -
7-43805932-A-G BLVRA c.1-4826A>G - IntronicSNV - 1/7
3-15737698-T-G ANKRD28 c.1512A>C p.Gln504His Missense 15/28 -
2-198946551-G-A PLCL1 c.241-1931G>A - IntronicSNV - 1/5
12-88946777-G-A KITLG c.16-7135C>T - IntronicSNV - 1/8
6-25849620-A-T SLC17A3 c.1344T>A p.Ser448Arg Missense 11/13 -
6-25849620-A-G SLC17A3 c.1344T>C p.Ser448Ser Synonymous 11/13 -
8-145603114-A-C ADCK5 c.51A>C p.Arg17Ser Missense 2/15 -
17-40763386-A-C TUBG1 c.331-707A>C - IntronicSNV - 3/10
17-43902997-G-A CRHR1 c.328-3584G>A - IntronicSNV - 4/13
3-41960006-T-C ULK4 c.670A>G p.Ile224Val Missense 7/37 -
9-130727677-C-T FAM102A c.147-11473G>A - IntronicSNV - 1/10
17-40835922-A-G CNTNAP1 c.151A>G p.Arg51Gly Missense 2/24 -
6-47626833-C-A ADGRF2 c.-207+2438C>A - intron_variant - 1/10
7-2004421-C-T MAD1L1 c.1506-7067G>A - IntronicSNV - 15/18
11-61571348-C-G FADS1 c.1054-109G>C - IntronicSNV - 7/11
1-150800655-A-G ARNT c.1122+914T>C - IntronicSNV - 11/20
11-74555056-C-T XRRA1 c.2020-52G>A - IntronicSNV - 17/18
15-78890321-C-T CHRNA3 c.1390-1247G>A - IntronicSNV - 5/5
4-141409324-A-G MGAT4D c.95-5685T>C - IntronicSNV - 1/10
5-140530529-G-A PCDHB6 c.691G>A p.Val231Ile Missense 1/1 -
8-11628162-G-T NEIL2 c.-3+318G>T - intron_variant - 1/4
7-100031612-G-A MEPCE c.*435G>A - 3-UTRSNV 5/5 -
7-65546062-C-T ASL c.13-728C>T - IntronicSNV - 2/16
4-120538823-G-A PDE5A c.153-10371C>T - IntronicSNV - 1/20
16-89480760-A-T ANKRD11 c.-60+3932T>A - intron_variant - 2/12
5-170369601-T-C RANBP17 c.1469-11000T>C - IntronicSNV - 12/27
5-170369601-T-A RANBP17 c.1469-11000T>A - IntronicSNV - 12/27
11-19848022-T-C NAV2 c.268-6008T>C - IntronicSNV - 1/37
11-72431679-T-C ARAP1 c.509+5986A>G - IntronicSNV - 3/34
4-7219933-T-A SORCS2 c.480+25080T>A - IntronicSNV - 1/26
4-7219933-T-G SORCS2 c.480+25080T>G - IntronicSNV - 1/26
9-123404610-T-C MEGF9 c.803+17042A>G - IntronicSNV - 2/5
1-154437896-T-A IL6R c.*40T>A - 3-UTRSNV 10/10 -
3-186449916-T-G KNG1 c.758-375T>G - IntronicSNV - 6/9
17-6483046-T-A KIAA0753 c.*21A>T - 3-UTRSNV 19/19 -
8-145578296-A-G TMEM249 c.132T>C p.Phe44Phe Synonymous 1/5 -
8-145578296-A-C TMEM249 c.132T>G p.Phe44Leu Missense 1/5 -
8-145578296-A-T TMEM249 c.132T>A p.Phe44Leu Missense 1/5 -
19-17375213-C-T USHBP1 c.1-105G>A - IntronicSNV - 1/12
11-55579801-T-C OR5L1 c.859T>C p.Ser287Pro Missense 1/1 -
3-52860936-C-T ITIH4 c.390G>A p.Val130Val Synonymous 4/24 -
19-44532767-G-T ZNF222 c.262+1125G>T - IntronicSNV - 3/3
6-31085770-G-A CDSN c.86-464C>T - IntronicSNV - 1/1
4-49053522-G-T CWH43 c.2021+656G>T - IntronicSNV - 15/15
4-49053522-G-A CWH43 c.2021+656G>A - IntronicSNV - 15/15
19-44532767-G-C ZNF222 c.262+1125G>C - IntronicSNV - 3/3
4-10087995-C-A WDR1 c.531+1336G>T - IntronicSNV - 5/11
4-120155135-T-C USP53 c.1-5780T>C - IntronicSNV - 3/17
4-10087995-C-G WDR1 c.531+1336G>C - IntronicSNV - 5/11
1-246931242-C-T SCCPDH c.*640C>T - 3-UTRSNV 12/12 -
6-29693969-C-T HLA-F c.1036+149C>T - IntronicSNV - 6/6
4-91516040-A-C CCSER1 c.1725-33136A>C - IntronicSNV - 5/10
4-26337615-T-C RBPJ c.20+14945T>C - IntronicSNV - 1/10
2-187697883-A-G ZSWIM2 c.905T>C p.Ile302Thr Missense 7/9 -
17-44108100-C-T KANSL1 c.*742G>A - 3-UTRSNV 15/15 -
3-49762662-G-T IP6K1 c.*1893C>A - 3-UTRSNV 6/6 -
17-40817448-G-A TUBG2 c.607-46G>A - IntronicSNV - 6/10
17-40817448-G-C TUBG2 c.607-46G>C - IntronicSNV - 6/10
19-10676681-T-G KRI1 c.-6A>C - 5_prime_UTR_variant 1/19 -
19-10676681-T-C KRI1 c.-6A>G - 5_prime_UTR_variant 1/19 -
3-15752830-T-C ANKRD28 c.1184-49A>G - IntronicSNV - 11/27
3-46299765-A-C CCR3 c.1-6130A>C - IntronicSNV - 1/2
1-21795388-A-G NBPF3 c.341A>G p.Tyr114Cys Missense 3/15 -
1-111728610-T-C DENND2D c.*1617A>G - 3-UTRSNV 12/12 -
11-55322444-T-C OR4C15 c.662T>C p.Phe221Ser Missense 1/1 -
2-179366093-C-T PLEKHA3 c.775+190C>T - IntronicSNV - 7/7
1-167512558-T-G CREG1 c.660-1020A>C - IntronicSNV - 3/3
12-109518133-A-G USP30 c.721-1006A>G - IntronicSNV - 7/12
2-79313815-G-T REG1B c.183+123C>A - IntronicSNV - 3/5
2-219310483-A-C VIL1 c.2371-3463A>C - IntronicSNV - 19/19
6-32410137-T-G HLA-DRA c.83-88T>G - IntronicSNV - 1/4
1-227834400-G-A ZNF678 c.250+29G>A - IntronicSNV - 3/3
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
11-18439738-G-A LDHC c.244+2890G>A - IntronicSNV - 3/7
3-125786760-G-A SLC41A3 c.273+30C>T - IntronicSNV - 2/10
3-125786760-G-C SLC41A3 c.273+30C>G - IntronicSNV - 2/10
13-52520704-C-A ATP7B c.2866-90G>T - IntronicSNV - 12/20
6-30618906-A-G C6orf136 c.161+47A>G - IntronicSNV - 2/4
3-10234065-G-T IRAK2 c.278-7988G>T - IntronicSNV - 2/12
3-10234065-G-A IRAK2 c.278-7988G>A - IntronicSNV - 2/12
3-194325010-G-A TMEM44 c.1176+6C>T - IntronicSNV - 9/10
3-194325010-G-T TMEM44 c.1176+6C>A - IntronicSNV - 9/10
10-81180962-C-T ZCCHC24 c.447+11352G>A - IntronicSNV - 2/3
6-110792301-G-A SLC22A16 c.53+5424C>T - IntronicSNV - 1/7
17-648157-G-A GEMIN4 c.3126C>T p.Ile1042Ile Synonymous 2/2 -
17-648157-G-C GEMIN4 c.3126C>G p.Ile1042Met Missense 2/2 -
8-11643803-C-T NEIL2 c.*21C>T - 3-UTRSNV 5/5 -
4-100054970-A-C ADH4 c.583-2055T>G - IntronicSNV - 5/8
1-230818841-G-T COG2 c.1167-479G>T - IntronicSNV - 10/17
21-44279410-G-A WDR4 c.627+362C>T - IntronicSNV - 6/10
12-88955469-G-A KITLG c.16-15827C>T - IntronicSNV - 1/8
16-4562351-T-C CDIP1 c.*222A>G - 3-UTRSNV 6/6 -
12-110379213-T-C GIT2 c.1732-2161A>G - IntronicSNV - 16/19
1-89481583-C-T GBP3 c.191-486G>A - IntronicSNV - 2/10
12-88955469-G-C KITLG c.16-15827C>G - IntronicSNV - 1/8
6-21130870-A-T CDKAL1 c.1299+22176A>T - IntronicSNV - 13/15
17-30290955-C-T SUZ12 c.456-2211C>T - IntronicSNV - 4/15
X-106475646-C-A PIH1D3 c.430-6506C>A - IntronicSNV - 5/6
7-27168590-A-G HOXA4 c.*254T>C - 3-UTRSNV 2/2 -
11-47432303-G-A SLC39A13 c.301+357G>A - IntronicSNV - 2/9
10-88618968-T-C BMPR1A c.1-16808T>C - IntronicSNV - 2/12
6-32411846-C-T HLA-DRA c.*159C>T - IntronicSNV - 4/4
6-32411846-C-G HLA-DRA c.*159C>G - IntronicSNV - 4/4
6-32411846-C-A HLA-DRA c.*159C>A - IntronicSNV - 4/4
6-32151994-A-T AGER c.6T>A p.Ala2Ala Synonymous 1/11 -
16-9940293-C-T GRIN2A c.1328+3320G>A - IntronicSNV - 6/13
19-1833338-G-T REXO1 c.158-4708C>A - IntronicSNV - 1/15
6-33053468-G-T HLA-DPB1 c.647-88G>T - IntronicSNV - 3/5
12-53727955-G-A SP7 c.21+1455C>T - IntronicSNV - 2/2
15-78832792-G-T PSMA4 c.-113G>T - 5_prime_UTR_variant 1/9 -
12-88931532-T-C KITLG c.130-5252A>G - IntronicSNV - 2/8
9-117120680-C-A AKNA c.2493-233G>T - IntronicSNV - 11/21
6-32147696-G-A RNF5 c.315G>A p.Pro105Pro Synonymous 4/6 -
6-33056139-G-T HLA-DPB1 c.*2124G>T - 3-UTRSNV 6/6 -
5-170328399-A-G RANBP17 c.489+5280A>G - IntronicSNV - 5/27
11-74551025-C-A RNF169 c.*3250C>A - 3-UTRSNV 6/6 -
6-31837277-C-G SLC44A4 c.1004+45G>C - IntronicSNV - 11/19
6-31837277-C-A SLC44A4 c.1004+45G>T - IntronicSNV - 11/19
16-89182218-A-T ACSF3 c.1126+1323A>T - IntronicSNV - 6/10
11-77773926-C-T NDUFC2-KCTD14 c.310+10118G>A - IntronicSNV - 2/3
6-30031345-T-C ZNRD1 c.357-1105T>C - IntronicSNV - 4/4
19-38014011-C-A ZNF793 c.1-331C>A - IntronicSNV - 1/7
6-32554469-G-T HLA-DRB1 c.101-2314C>A - IntronicSNV - 1/5
8-145615776-G-T ADCK5 c.267-95G>T - IntronicSNV - 3/14
8-145615776-G-A ADCK5 c.267-95G>A - IntronicSNV - 3/14
2-234667582-A-C UGT1A4 c.868-8098A>C - IntronicSNV - 1/4
2-234667582-A-G UGT1A4 c.868-8098A>G - IntronicSNV - 1/4
6-33053352-C-T HLA-DPB1 c.647-204C>T - IntronicSNV - 3/5
12-124428331-T-C CCDC92 c.35-291A>G - IntronicSNV - 2/4
3-98002587-A-G OR5H2 c.856A>G p.Ile286Val Missense 1/1 -
17-41371844-A-G TMEM106A c.*2023A>G - 3_prime_UTR_variant 9/9 -
9-94864322-A-G SPTLC1 c.260+6700T>C - IntronicSNV - 3/14
1-227935444-A-G SNAP47 c.142A>G p.Arg48Gly Missense 2/5 -
6-46632006-T-C SLC25A27 c.507-505T>C - IntronicSNV - 4/8
3-1139641-A-G CNTN6 c.-83+4828A>G - intron_variant - 1/22
3-195489009-C-T MUC4 c.14461G>A p.Ala4821Thr Missense 14/25 -
3-195489009-C-A MUC4 c.14461G>T p.Ala4821Ser Missense 14/25 -
16-89182218-A-G ACSF3 c.1126+1323A>G - IntronicSNV - 6/10
6-29523957-A-G UBD c.198T>C p.Tyr66Tyr Synonymous 2/2 -
2-166949372-A-G SCN1A c.-141-15061T>C - intron_variant - 2/28
11-77773926-C-A NDUFC2-KCTD14 c.310+10118G>T - IntronicSNV - 2/3
10-3148116-C-G PFKP c.774+423C>G - IntronicSNV - 7/21
2-234667582-A-T UGT1A4 c.868-8098A>T - IntronicSNV - 1/4
11-118528466-T-G TREH c.*533A>C - 3_prime_UTR_variant 16/16 -
9-123665019-A-G TRAF1 c.*2279T>C - 3-UTRSNV 8/8 -
17-30534311-A-G RHOT1 c.1536+263A>G - IntronicSNV - 17/18
19-1495634-G-C REEP6 c.348+28G>C - IntronicSNV - 3/4
1-150783985-T-C ARNT c.*512A>G - 3-UTRSNV 21/21 -
17-10617234-G-C TMEM220 c.*1536C>G - 3-UTRSNV 6/6 -
2-171893117-T-C TLK1 c.1170-8202A>G - IntronicSNV - 11/20
11-62371773-A-C EML3 c.1983-100T>G - IntronicSNV - 16/21
2-120123704-C-T C2orf76 c.-216+229G>A - intron_variant - 1/6
1-111731158-A-G DENND2D c.1099+166T>C - IntronicSNV - 10/11
2-171893117-T-A TLK1 c.1170-8202A>T - IntronicSNV - 11/20
4-76903036-A-T SDAD1 c.195+50T>A - IntronicSNV - 2/21
6-30169092-A-G TRIM26 c.-265-177T>C - intron_variant - 2/9
4-57905807-C-T IGFBP7 c.585+1183G>A - IntronicSNV - 2/3
13-52507720-C-T ATP7B c.*1172G>A - 3-UTRSNV 21/21 -
20-33604042-T-C TRPC4AP c.1219-100A>G - IntronicSNV - 9/18
4-57905807-C-A IGFBP7 c.585+1183G>T - IntronicSNV - 2/3
5-1416646-G-A SLC6A3 c.928-330C>T - IntronicSNV - 6/14
17-44071851-G-A MAPT c.1508-1914G>A - IntronicSNV - 9/13
16-68713730-G-A CDH3 c.720G>A p.Thr240Thr Synonymous 7/16 -
14-24898751-G-A CBLN3 c.1-491C>T - IntergenicSNV 1/3 -
11-61551356-T-G MYRF c.3033T>G p.Ser1011Arg Missense 23/26 -
11-61551356-T-A MYRF c.3033T>A p.Ser1011Arg Missense 23/26 -
3-15737610-T-G ANKRD28 c.1569+31A>C - IntronicSNV - 15/27
15-41088581-A-G DNAJC17 c.78+10986T>C - IntronicSNV - 1/10
15-41088581-A-T DNAJC17 c.78+10986T>A - IntronicSNV - 1/10
X-106330707-T-A RBM41 c.927+959A>T - IntronicSNV - 5/6
22-32151704-T-C DEPDC5 c.58+739T>C - IntronicSNV - 2/41
13-111318160-C-T CARS2 c.919+1527G>A - IntronicSNV - 8/14
4-49016761-A-G CWH43 c.1187-2505A>G - IntronicSNV - 8/15
6-31927342-A-T SKIV2L c.126+165A>T - IntronicSNV - 2/27
13-111301996-C-A CARS2 c.1054+1385G>T - IntronicSNV - 10/14
13-111301996-C-T CARS2 c.1054+1385G>A - IntronicSNV - 10/14
4-109931951-C-T COL25A1 c.421-420G>A - IntronicSNV - 5/34
10-104596924-C-A CYP17A1 c.195G>T p.Ser65Ser Synonymous 1/8 -
6-30882415-C-T VARS2 c.1-199C>T - IntronicSNV - 1/29
6-116314634-C-T FRK c.466+10406G>A - IntronicSNV - 2/7
13-111328765-C-T CARS2 c.785+556G>A - IntronicSNV - 7/14
2-70446785-A-T TIA1 c.442-2659T>A - IntronicSNV - 6/11
10-104698978-T-C CNNM2 c.1621+19120T>C - IntronicSNV - 1/7
12-57725197-G-A R3HDM2 c.1-20986C>T - IntergenicSNV - 2/23
2-55406602-A-C CLHC1 c.1384+1044T>G - IntronicSNV - 11/12
6-31715882-T-C MSH5 c.812+673T>C - IntronicSNV - 10/24
16-58194926-C-T CSNK2A2 c.*18-2669G>A - intron_variant - 11/11
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
3-1139641-A-T CNTN6 c.-83+4828A>T - intron_variant - 1/22
2-70446785-A-C TIA1 c.442-2659T>G - IntronicSNV - 6/11
5-170408962-A-G RANBP17 c.1710+13581A>G - IntronicSNV - 14/27
18-77455690-C-T CTDP1 c.399-287C>T - IntronicSNV - 2/12
3-41930219-A-C ULK4 c.1578-4775T>G - IntronicSNV - 16/36
11-117745003-G-A FXYD6-FXYD2 c.-6+2304C>T - intron_variant - 1/10
3-41851718-T-C ULK4 c.1848+9197A>G - IntronicSNV - 19/36
6-30867527-G-A DDR1 c.*454G>A - 3-UTRSNV 17/17 -
10-124186127-A-G PLEKHA1 c.811-331A>G - IntronicSNV - 10/11
19-9868404-C-T ZNF846 c.1349G>A p.Cys450Tyr Missense 6/6 -
7-150440043-C-T GIMAP1-GIMAP5 c.1428C>T p.Leu476Leu Synonymous 6/6 -
17-6515454-C-T KIAA0753 c.1330G>A p.Asp444Asn Missense 8/19 -
9-140706127-G-A EHMT1 c.2867+60G>A - IntronicSNV - 19/26
6-31864547-G-T EHMT2 c.164C>A p.Thr55Asn Missense 3/28 -
1-235600129-T-C TBCE c.963+206T>C - IntronicSNV - 11/16
13-53278680-T-C CNMD c.790-738A>G - IntronicSNV - 6/6
6-31688518-T-A LY6G6C c.53-538A>T - IntronicSNV - 1/2
14-75389074-G-A RPS6KL1 c.-414C>T - 5_prime_UTR_variant 2/12 -
17-56660279-A-G TEX14 c.3190-1188T>C - IntronicSNV - 19/32
17-56660279-A-T TEX14 c.3190-1188T>A - IntronicSNV - 19/32
18-45659367-A-G ZBTB7C c.-17+4011T>C - intron_variant - 1/2
18-45659367-A-C ZBTB7C c.-17+4011T>G - intron_variant - 1/2
2-219287276-C-A VIL1 c.1-1226C>A - IntronicSNV - 1/19
1-231520874-C-T EGLN1 c.892-11029G>A - IntronicSNV - 1/4
2-234635467-A-G UGT1A4 c.867+7134A>G - IntronicSNV - 1/4
9-140698856-C-T EHMT1 c.2712+3420C>T - IntronicSNV - 18/26
15-40949526-C-T KNL1 c.6595-27C>T - IntronicSNV - 23/25
5-662955-T-C TPPP c.*2262A>G - 3-UTRSNV 4/4 -
3-49752372-C-T RNF123 c.3011-636C>T - IntronicSNV - 31/38
6-32038550-C-T TNXB c.4991-359G>A - IntronicSNV - 13/43
12-11338750-T-G TAS2R42 c.794A>C p.Tyr265Ser Missense 1/1 -
18-77509825-G-A CTDP1 c.2748-3827G>A - IntronicSNV - 12/12
6-31525448-C-T NFKBIL1 c.378C>T p.Ser126Ser Synonymous 3/4 -
1-153618766-C-T CHTOP c.*1021C>T - 3-UTRSNV 6/6 -
17-7473457-C-A SENP3 c.1342-217C>A - intron_variant - 8/11
17-7473457-C-T SENP3 c.1342-217C>T - intron_variant - 8/11
8-22133744-C-T PIWIL2 c.-47+202C>T - intron_variant - 1/22
3-48898749-T-C SLC25A20 c.535+1226A>G - IntronicSNV - 5/8
1-231488524-C-T SPRTN c.887C>T p.Pro296Leu Missense 5/5 -
2-219501328-G-A PLCD4 c.*28G>A - 3-UTRSNV 16/16 -
2-86310110-C-T POLR1A c.817+95G>A - IntronicSNV - 7/33
7-30696190-C-T CRHR2 c.913-562G>A - IntronicSNV - 9/12
9-136538366-G-A SARDH c.2164-1547C>T - IntronicSNV - 17/20
6-31946614-G-A STK19 c.568-66G>A - IntronicSNV - 3/7
10-104595420-T-G CYP17A1 c.298-271A>C - IntronicSNV - 1/7
10-104597152-A-T CYP17A1 c.1-34T>A - 5-UTRSNV 1/8 -
1-227821255-T-C ZNF678 c.124-12990T>C - IntronicSNV - 2/3
10-104597152-A-G CYP17A1 c.1-34T>C - 5-UTRSNV 1/8 -
17-78079643-C-A GAA c.642C>A p.Ser214Ser Synonymous 3/20 -
2-106692818-G-A C2orf40 c.286-1403G>A - IntronicSNV - 3/3
22-50584201-A-C MOV10L1 c.2589A>C p.Thr863Thr Synonymous 19/27 -
6-30038647-T-C RNF39 c.*241A>G - 3-UTRSNV 5/5 -
11-60785352-A-G CD6 c.1704A>G p.Ser568Ser Synonymous 11/13 -
6-30038647-T-G RNF39 c.*241A>C - 3-UTRSNV 5/5 -
11-116653296-C-G ZPR1 c.1093-336G>C - IntronicSNV - 11/13
11-116653296-C-T ZPR1 c.1093-336G>A - IntronicSNV - 11/13
16-67874264-T-C CENPT c.-491-4703A>G - intron_variant - 1/15
6-33050279-A-G HLA-DPB1 c.364+1567A>G - IntronicSNV - 2/5
6-32408044-A-C HLA-DRA c.82+235A>C - IntronicSNV - 1/4
6-32781776-C-A HLA-DOB c.644-166G>T - IntronicSNV - 3/5
9-5181467-C-T INSL6 c.289+3847G>A - IntronicSNV - 1/1
9-5181467-C-G INSL6 c.289+3847G>C - IntronicSNV - 1/1
9-5181467-C-A INSL6 c.289+3847G>T - IntronicSNV - 1/1
8-116662038-A-C TRPS1 c.-122+18734T>G - intron_variant - 1/6
8-116662038-A-T TRPS1 c.-122+18734T>A - intron_variant - 1/6
12-110341933-A-G TCHP c.380A>G p.Lys127Arg Missense 3/13 -
12-88918627-C-T KITLG c.193-5983G>A - IntronicSNV - 3/8
8-59412066-T-G CYP7A1 c.80+512A>C - IntronicSNV - 1/5
15-81543469-G-A IL16 c.313-8644G>A - IntronicSNV - 2/18
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
17-6481776-C-T KIAA0753 c.*1291G>A - 3-UTRSNV 19/19 -
17-56663842-A-G TEX14 c.2807-399T>C - IntronicSNV - 17/32
14-93170993-C-T LGMN c.1251G>A p.Pro417Pro Synonymous 13/14 -
4-120240238-T-C FABP2 c.357A>G p.Val119Val Synonymous 4/4 -
4-120522172-C-T PDE5A c.742-4405G>A - IntronicSNV - 2/20
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
11-74664025-G-A SPCS2 c.114+3581G>A - IntronicSNV - 1/4
3-186435370-G-A KNG1 c.39G>A p.Leu13Leu Synonymous 1/10 -
19-46172278-G-A GIPR c.1-501G>A - IntronicSNV - 1/13
1-26612460-G-A UBXN11 c.529C>T p.Leu177Leu Synonymous 9/15 -
13-53203671-G-A HNRNPA1L2 c.-303+177G>A - intron_variant - 4/6
3-129274655-C-T PLXND1 c.*500G>A - 3-UTRSNV 36/36 -
4-1365858-T-C UVSSA c.1289-3294T>C - IntronicSNV - 8/13
9-136536679-G-A SARDH c.2304C>T p.Ile768Ile Synonymous 18/21 -
10-104849468-G-C NT5C2 c.1647C>G p.Asp549Glu Missense 19/19 -
10-104849468-G-A NT5C2 c.1647C>T p.Asp549Asp Synonymous 19/19 -
6-31083664-G-A CDSN c.*138C>T - 3-UTRSNV 2/2 -
2-85546615-C-T TGOLN2 c.*3244G>A - 3-UTRSNV 4/4 -
6-30544401-A-G ABCF1 c.74-785A>G - IntronicSNV - 1/24
6-31921475-G-A NELFE c.1045+31C>T - IntronicSNV - 10/10
2-3658521-C-T COLEC11 c.131-2380C>T - IntronicSNV - 2/6
6-32410987-A-G HLA-DRA c.354A>G p.Thr118Thr Synonymous 3/5 -
10-35662640-A-T CCNY c.1-109700A>T - IntronicSNV - 3/11
10-35662640-A-G CCNY c.1-109700A>G - IntronicSNV - 3/11
17-78615571-G-A RPTOR c.266-1957G>A - IntronicSNV - 2/33
17-43923654-G-C SPPL2C c.1382G>C p.Arg461Pro Missense 1/1 -
17-43923654-G-A SPPL2C c.1382G>A p.Arg461His Missense 1/1 -
15-42085017-A-C MAPKBP1 c.115-7004A>C - IntronicSNV - 2/30
11-6790106-T-C OR2AG2 c.83A>G p.Tyr28Cys Missense 1/1 -
16-88024007-T-C BANP c.362+6142T>C - IntronicSNV - 4/11
6-31097453-T-G PSORS1C1 c.13+31T>G - IntronicSNV - 3/5
3-41897482-G-A ULK4 c.1657-20019C>T - IntronicSNV - 17/36
2-179366093-C-A PLEKHA3 c.775+190C>A - IntronicSNV - 7/7
1-78130243-T-C ZZZ3 c.-403+18027A>G - intron_variant - 1/14
9-33131651-G-A B4GALT1 c.648+3536C>T - IntronicSNV - 2/5
17-40716520-A-G COASY c.972A>G p.Thr324Thr Synonymous 3/9 -
15-41032138-A-G RMDN3 c.971+193T>C - IntronicSNV - 7/12
8-141526038-T-C CHRAC1 c.*692T>C - 3-UTRSNV 3/3 -
2-198950029-A-G PLCL1 c.1788A>G p.Gln596Gln Synonymous 2/6 -
1-150671630-T-C HORMAD1 c.1105-420A>G - IntronicSNV - 14/14
10-101977883-C-T CHUK c.802G>A p.Val268Ile Missense 9/21 -
1-205812614-C-T PM20D1 c.827+181G>A - IntronicSNV - 6/12
6-31379115-G-A MICA c.592G>A p.Gly198Ser Missense 3/6 -
11-117741995-G-A FXYD6-FXYD2 c.-6+5312C>T - intron_variant - 1/10
17-44800110-G-A NSF c.1762-3805G>A - IntronicSNV - 15/20
7-141464765-C-T TAS2R3 c.807C>T p.Gly269Gly Synonymous 1/1 -
7-99800559-G-T STAG3 c.2700+346G>T - IntronicSNV - 25/33
13-36850012-G-A CCDC169 c.315+7594C>T - IntronicSNV - 4/7
10-34470204-C-T PARD3 c.3429-49693G>A - IntronicSNV - 22/24
6-30515043-T-C GNL1 c.1287A>G p.Ala429Ala Synonymous 10/12 -
7-2752487-G-A AMZ1 c.1472G>A p.Arg491His Missense 7/7 -
11-108539604-G-A DDX10 c.186+3538G>A - IntronicSNV - 1/17
9-33124872-T-C B4GALT1 c.649-4268A>G - IntronicSNV - 2/5
11-120528479-T-C GRIK4 c.1-2549T>C - IntergenicSNV - 1/20
17-7134129-A-G DVL2 c.195-13T>C - IntronicSNV - 1/14
19-1495634-G-A REEP6 c.348+28G>A - IntronicSNV - 3/4
2-88475047-G-A THNSL2 c.571+127G>A - IntronicSNV - 3/7
10-3147192-G-A PFKP c.621-115G>A - IntronicSNV - 5/21
22-32196181-G-T DEPDC5 c.946+1539G>T - IntronicSNV - 14/41
1-154491683-A-G TDRD10 c.142-1097A>G - IntronicSNV - 4/12
1-154491683-A-T TDRD10 c.142-1097A>T - IntronicSNV - 4/12
7-75628101-C-T STYXL1 c.810+2107G>A - IntronicSNV - 8/8
6-30611350-C-A ATAT1 c.*11C>A - 3-UTRSNV 11/11 -
12-110456175-A-G ANKRD13A c.426A>G p.Pro142Pro Synonymous 5/15 -
6-31084075-G-T CDSN c.1317C>A p.Ser439Ser Synonymous 2/2 -
6-31084075-G-C CDSN c.1317C>G p.Ser439Ser Synonymous 2/2 -
2-219543433-T-C STK36 c.685-458T>C - IntronicSNV - 6/26
10-35577194-C-T CCNY c.-9+37640C>T - intron_variant - 3/11
6-137179387-G-A PEX7 c.527-8378G>A - IntronicSNV - 5/9
8-48803675-T-C PRKDC c.3845-634A>G - intron_variant - 32/85
9-5181610-T-A INSL6 c.289+3704A>T - IntronicSNV - 1/1
2-219295249-C-T VIL1 c.949-199C>T - IntronicSNV - 9/19
X-153701716-A-C PLXNA3 c.*688A>C - 3-UTRSNV 33/33 -
16-2742020-A-G KCTD5 c.253-3916A>G - IntronicSNV - 1/5
4-100055908-T-C ADH4 c.582+1709A>G - IntronicSNV - 5/8
18-74692336-A-G MBP c.*47T>C - 3-UTRSNV 7/7 -
4-141410251-C-T MGAT4D c.95-6612G>A - IntronicSNV - 1/10
8-145621556-A-C CPSF1 c.2979+7T>G - IntronicSNV - 26/37
8-145621556-A-G CPSF1 c.2979+7T>C - IntronicSNV - 26/37
10-12652657-G-A CAMK1D c.225-56078G>A - IntronicSNV - 2/9
16-17479794-A-G XYLT1 c.364-27887T>C - IntronicSNV - 1/11
11-18421683-C-A LDHA c.244+588C>A - IntronicSNV - 3/7
10-104574422-A-T WBP1L c.*1334A>T - 3-UTRSNV 4/4 -
6-33172932-G-A HSD17B8 c.270+36G>A - IntronicSNV - 2/8
8-11617240-A-T GATA4 c.*1256A>T - 3-UTRSNV 7/7 -
9-136143442-A-G ABO c.29-5871T>C - IntronicSNV - 1/7
17-7129974-A-G DVL2 c.1544-16T>C - IntronicSNV - 13/14
8-144403163-G-A TOP1MT c.1146+208C>T - IntronicSNV - 8/13
4-2943361-T-G NOP14 c.2147A>C p.Gln716Pro Missense 15/19 -
4-2943361-T-C NOP14 c.2147A>G p.Gln716Arg Missense 15/19 -
20-30135990-A-G HM13 c.455-842A>G - IntronicSNV - 4/12
10-52000536-T-C ASAH2 c.510+2426A>G - IntronicSNV - 3/19
18-74692336-A-T MBP c.*47T>A - 3-UTRSNV 7/7 -
11-126162843-C-T TIRAP c.539C>T p.Ser180Leu Missense 5/5 -
5-170394572-G-A RANBP17 c.1575-674G>A - IntronicSNV - 13/27
6-33053682-G-A HLA-DPB1 c.757+16G>A - IntronicSNV - 4/5
6-33053682-G-C HLA-DPB1 c.757+16G>C - IntronicSNV - 4/5
10-35567127-T-C CCNY c.-9+27573T>C - intron_variant - 3/11
17-43923180-G-T SPPL2C c.908G>T p.Arg303Leu Missense 1/1 -
6-33622933-C-T ITPR3 c.161-610C>T - IntronicSNV - 2/57
13-36857639-T-G CCDC169 c.282A>C p.Leu94Leu Synonymous 4/8 -
11-89444194-G-A TRIM77 c.411+317G>A - IntronicSNV - 1/5
18-33048554-C-T INO80C c.*21G>A - 3-UTRSNV 5/5 -
18-33048554-C-G INO80C c.*21G>C - 3-UTRSNV 5/5 -
17-2295633-C-A MNT c.807+1704G>T - IntronicSNV - 4/5
11-55322099-C-A OR4C15 c.155C>A - missense_variant 1/1 -
11-55322099-C-G OR4C15 c.155C>G - missense_variant 1/1 -
1-67494591-G-C SLC35D1 c.730-7306C>G - IntronicSNV - 8/11
1-67494591-G-T SLC35D1 c.730-7306C>A - IntronicSNV - 8/11
4-100059312-G-A ADH4 c.350+900C>T - IntronicSNV - 4/8
1-182759592-G-T NPL c.-72+652G>T - intron_variant - 1/12
17-56473259-T-C RNF43 c.252+19428A>G - IntronicSNV - 2/9
8-145046662-C-G PLEC c.193+2683G>C - IntronicSNV - 2/32
8-145046662-C-T PLEC c.193+2683G>A - IntronicSNV - 2/32
3-194324939-A-G TMEM44 c.1176+77T>C - IntronicSNV - 9/10
11-47648042-G-A MTCH2 c.681+590C>T - IntronicSNV - 10/12
7-1912222-A-G MAD1L1 c.1998+25614T>C - IntronicSNV - 18/18
11-299506-C-A IFITM5 c.1-16G>T - 5-UTRSNV 1/2 -
1-198269416-C-T NEK7 c.798+3046C>T - IntronicSNV - 9/9
16-4015729-C-T ADCY9 c.*47G>A - 3-UTRSNV 11/11 -
9-130703565-A-T FAM102A c.*1906T>A - 3-UTRSNV 11/11 -
9-34237480-G-A UBAP1 c.351+3142G>A - IntronicSNV - 2/5
9-139847570-T-C LCN12 c.251+90T>C - IntronicSNV - 2/5
19-1497121-G-T REEP6 c.518-52G>T - IntronicSNV - 4/4
11-126182644-C-G DCPS c.376+6005C>G - IntronicSNV - 2/5
11-126182644-C-A DCPS c.376+6005C>A - IntronicSNV - 2/5
14-90754538-C-T NRDE2 c.3158+23G>A - IntronicSNV - 11/13
17-41234470-A-G BRCA1 c.4308T>C p.Ser1436Ser Synonymous 12/23 -
1-78558419-T-C GIPC2 c.427-2217T>C - IntronicSNV - 2/5
6-30864279-C-T DDR1 c.1625-119C>T - IntronicSNV - 11/16
19-10668673-A-G KRI1 c.1334T>C - missense_variant 14/19 -
10-104848123-G-C NT5C2 c.*1306C>G - 3-UTRSNV 19/19 -
1-109817838-T-C CELSR2 c.*1167T>C - 3-UTRSNV 34/34 -
6-32117971-T-G PRRT1 c.558+174A>C - IntronicSNV - 2/3
9-140682841-C-G EHMT1 c.2383-2459C>G - IntronicSNV - 15/26
3-58558769-C-A FAM107A c.-103-2619G>T - intron_variant - 1/4
12-112250200-G-A ALDH2 c.*2821G>A - IntergenicSNV 13/13 -
5-81550043-G-A ATG10 c.*161G>A - 3_prime_UTR_variant 9/9 -
17-4763551-T-C MINK1 c.58-18061T>C - IntronicSNV - 1/30
12-75881018-C-T GLIPR1 c.421-3168C>T - IntronicSNV - 2/5
12-129592534-G-A TMEM132D c.1444-23287C>T - IntronicSNV - 5/8
12-11061122-T-C TAS2R13 c.776A>G p.Asn259Ser Missense 1/1 -
7-43665500-T-C STK17A c.*1059T>C - 3-UTRSNV 7/7 -
X-106440550-C-T NUP62CL c.-91-4248G>A - intron_variant - 1/8
4-91500284-A-G CCSER1 c.1725-48892A>G - IntronicSNV - 5/10
4-120424580-T-G PDE5A c.2332-770A>C - IntronicSNV - 18/20
22-23587894-C-A BCR c.1280-8092C>A - IntronicSNV - 1/22
16-12059233-TT-GA TNFRSF17 c.52_53delTTinsGA p.Leu18Glu Missense 1/3 -
12-88921216-A-G KITLG c.192+5002T>C - IntronicSNV - 3/8
12-121128699-A-G MLEC c.236-3195A>G - IntronicSNV - 1/4
17-10610213-A-G ADPRM c.718+342A>G - IntronicSNV - 3/3
14-75386576-G-A RPS6KL1 c.362C>T p.Pro121Leu Missense 4/12 -
17-40110764-C-T TTC25 c.1246-2636C>T - IntronicSNV - 9/10
3-158429009-T-C RARRES1 c.340-287A>G - IntronicSNV - 2/3
3-158429009-T-G RARRES1 c.340-287A>C - IntronicSNV - 2/3
1-26899125-C-T RPS6KA1 c.1947+341C>T - IntronicSNV - 20/21
8-80841972-T-C MRPS28 c.396-10589A>G - IntronicSNV - 2/2
10-34473335-T-G PARD3 c.3429-52824A>C - IntronicSNV - 22/24
17-33874678-T-C SLFN14 c.*580A>G - IntergenicSNV 6/6 -
7-95781748-G-A SLC25A13 c.1312-5740C>T - IntronicSNV - 13/17
10-104638723-T-C AS3MT c.860T>C p.Met287Thr Missense 9/11 -
7-44102037-T-C DBNL c.*1522T>C - IntergenicSNV 13/13 -
7-1529860-C-T INTS1 c.2166-542G>A - IntronicSNV - 16/47
4-10076860-G-A WDR1 c.*142C>T - 3-UTRSNV 12/12 -
6-169047090-G-A SMOC2 c.908-4271G>A - IntronicSNV - 9/12
X-106322665-T-C RBM41 c.927+9001A>G - IntronicSNV - 5/6
7-30673345-C-T GARS c.2095-6C>T - IntronicSNV - 16/16
3-134325626-A-G KY c.1090+1865T>C - IntronicSNV - 10/10
19-50396263-T-G IL4I1 c.633+1262A>C - IntronicSNV - 7/9
1-204913652-A-G NFASC c.91+118A>G - IntronicSNV - 3/29
2-120108230-A-C C2orf76 c.-215-10293T>G - intron_variant - 1/6
12-131277771-C-A STX2 c.*46-1249G>T - intron_variant - 10/10
12-131277771-C-G STX2 c.*46-1249G>C - intron_variant - 10/10
7-1097952-C-T C7orf50 c.130-48173G>A - IntronicSNV - 2/4
1-153635425-G-A ILF2 c.921+70C>T - IntronicSNV - 12/13
6-30174428-A-T TRIM26 c.-375-1886T>A - intron_variant - 1/9
4-38060485-T-A TBC1D1 c.2050+4526T>A - IntronicSNV - 12/19
4-38060485-T-C TBC1D1 c.2050+4526T>C - IntronicSNV - 12/19
X-106396455-A-T NUP62CL c.477T>A p.Arg159Arg Synonymous 7/9 -
17-30206426-T-C UTP6 c.968-626A>G - IntronicSNV - 11/18
17-30206426-T-A UTP6 c.968-626A>T - IntronicSNV - 11/18
10-88546128-A-G BMPR1A c.-268+29452A>G - intron_variant - 1/12
1-15529536-T-C TMEM51 c.1-12048T>C - IntronicSNV - 1/2
12-121127347-A-G MLEC c.235+2013A>G - IntronicSNV - 1/4
16-89544636-C-T ANKRD11 c.-145+12017G>A - intron_variant - 1/12
2-234665659-T-G UGT1A4 c.868-10021T>G - IntronicSNV - 1/4
1-242038713-G-A EXO1 c.1514+3133G>A - IntronicSNV - 10/13
2-219293326-C-T VIL1 c.567+266C>T - IntronicSNV - 6/19
17-56584205-A-C MTMR4 c.890T>G p.Val297Gly Missense 10/19 -
11-44880092-C-T TSPAN18 c.-152-1787C>T - intron_variant - 2/9
10-88662216-A-C BMPR1A c.530+2333A>C - IntronicSNV - 7/12
17-56584205-A-G MTMR4 c.890T>C p.Val297Ala Missense 10/19 -
12-133389998-T-C GOLGA3 c.414A>G p.Thr138Thr Synonymous 4/24 -
7-1125893-A-G C7orf50 c.129+41000T>C - IntronicSNV - 2/4
1-109940435-AG-GC SORT1 c.79_80delCTinsGC p.Leu27Ala Missense 1/20 -
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
4-91501614-A-G CCSER1 c.1725-47562A>G - IntronicSNV - 5/10
10-94374377-C-T KIF11 c.1032+1001C>T - IntronicSNV - 8/21
16-68725486-A-G CDH3 c.1796-137A>G - IntronicSNV - 12/15
4-99948406-G-A METAP1 c.115-1612G>A - IntronicSNV - 1/10
17-6531648-A-C KIAA0753 c.507T>G p.Ser169Ser Synonymous 3/19 -
17-6531648-A-G KIAA0753 c.507T>C p.Ser169Ser Synonymous 3/19 -
11-19849427-G-A NAV2 c.268-4603G>A - IntronicSNV - 1/37
11-723429-C-T EPS8L2 c.1454+76C>T - IntronicSNV - 15/20
1-150847647-C-T ARNT c.25+1372G>A - IntronicSNV - 1/20
2-136674028-A-G DARS c.960-86T>C - IntronicSNV - 10/15
6-33051139-G-A HLA-DPB1 c.365-1588G>A - IntronicSNV - 2/5
1-26759149-A-G DHDDS c.1-288A>G - IntronicSNV - 1/8
3-105526724-T-C CBLB c.420-31338A>G - IntronicSNV - 3/18
7-2159817-A-G MAD1L1 c.1073+28970T>C - IntronicSNV - 11/18
7-64284959-G-A ZNF138 c.131-6870G>A - IntronicSNV - 2/2
16-28855727-A-G TUFM c.817+13T>C - IntronicSNV - 6/9
1-182369738-G-A TEDDM1 c.1-118C>T - 5-UTRSNV 1/1 -
17-40763386-A-G TUBG1 c.331-707A>G - IntronicSNV - 3/10
1-55464743-T-C BSND c.1-117T>C - 5-UTRSNV 1/4 -
6-27775674-A-G HIST1H2BL c.11T>C p.Leu4Pro Missense 1/1 -
6-30137209-G-A TRIM15 c.731+169G>A - IntronicSNV - 4/6
8-116670347-C-T TRPS1 c.-122+10425G>A - intron_variant - 1/6
2-232389301-T-C NMUR1 c.*453A>G - 3-UTRSNV 3/3 -
5-498065-T-C SLC9A3 c.212-5879A>G - IntronicSNV - 1/16
6-32411833-C-T HLA-DRA c.*146C>T - IntronicSNV - 4/4
12-88894940-T-C KITLG c.*4033A>G - IntronicSNV 9/9 -
18-31320716-A-G ASXL3 c.3039+309A>G - IntronicSNV - 11/11
10-35641571-G-A CCNY c.-9+102017G>A - intron_variant - 3/11
17-20058510-C-T SPECC1 c.283+44635C>T - IntronicSNV - 3/7
11-108809585-C-A DDX10 c.2451-1388C>A - IntronicSNV - 17/17
14-72704544-G-A RGS6 c.85-114259G>A - IntronicSNV - 2/17
6-31928691-G-A SKIV2L c.545-127G>A - IntronicSNV - 6/27
1-150814174-A-G ARNT c.228-2044T>C - IntronicSNV - 4/20
12-57696677-G-A R3HDM2 c.207+282C>T - IntronicSNV - 4/23
6-31927342-A-G SKIV2L c.126+165A>G - IntronicSNV - 2/27
1-150821847-G-C ARNT c.183-3064C>G - IntronicSNV - 3/20
1-150821847-G-A ARNT c.183-3064C>T - IntronicSNV - 3/20
1-205739266-C-T RAB29 c.*204G>A - 3-UTRSNV 6/6 -
1-154468135-T-C SHE c.718+3453A>G - IntronicSNV - 2/5
6-31838441-T-C SLC44A4 c.850A>G p.Met284Val Missense 10/20 -
17-26888725-G-A PIGS c.469-78C>T - IntronicSNV - 5/11
3-194353875-G-T TMEM44 c.70C>A p.His24Asn Missense 1/11 -
3-12159294-G-A SYN2 c.378-22857G>A - intron_variant - 2/13
17-41331306-C-T NBR1 c.166-105C>T - IntronicSNV - 3/20
1-150638572-T-G GOLPH3L c.184-2333A>C - IntronicSNV - 2/4
19-9868404-C-A ZNF846 c.1349G>T p.Cys450Phe Missense 6/6 -
4-100056060-G-A ADH4 c.582+1557C>T - IntronicSNV - 5/8
17-43513441-C-T PLEKHM1 c.*1783G>A - 3-UTRSNV 12/12 -
6-30030057-G-A ZNRD1 c.303G>A p.Gln101Gln Synonymous 4/5 -
9-140636333-G-A EHMT1 c.824-1490G>A - IntronicSNV - 4/26
7-64267756-C-A ZNF138 c.4-7540C>A - IntronicSNV - 1/2
7-64267756-C-T ZNF138 c.4-7540C>T - IntronicSNV - 1/2
6-30611350-C-T ATAT1 c.*11C>T - 3-UTRSNV 11/11 -
11-61557803-T-C TMEM258 c.113+162A>G - IntronicSNV - 2/3
2-169662024-A-T NOSTRIN c.-122+2841A>T - intron_variant - 1/14
6-30650026-G-A PPP1R18 c.1611+2159C>T - IntronicSNV - 1/2
1-231521478-C-T EGLN1 c.892-11633G>A - IntronicSNV - 1/4
6-28257377-T-C PGBD1 c.642+2432T>C - IntronicSNV - 4/6
1-150809919-T-C ARNT c.442-950A>G - IntronicSNV - 5/20
3-49762662-G-C IP6K1 c.*1893C>G - 3-UTRSNV 6/6 -
10-104596924-C-T CYP17A1 c.195G>A p.Ser65Ser Synonymous 1/8 -
19-50028040-T-C FCGRT c.871+7T>C - IntronicSNV - 5/6
12-88896224-T-C KITLG c.*2749A>G - IntronicSNV 9/9 -
3-69370396-C-T FRMD4B c.163-7728G>A - IntronicSNV - 1/22
6-32179438-G-A NOTCH4 c.2681-725C>T - IntronicSNV - 17/29
4-7219907-G-A SORCS2 c.480+25054G>A - IntronicSNV - 1/26
10-124156852-C-T PLEKHA1 c.142-582C>T - IntronicSNV - 2/11
2-234655303-G-T UGT1A4 c.868-20377G>T - IntronicSNV - 1/4
11-118478330-G-A PHLDB1 c.-179+943G>A - intron_variant - 1/23
5-132198199-G-A GDF9 c.447C>T p.Thr149Thr Synonymous 2/2 -
6-31236567-T-C HLA-C c.*379A>G - 3-UTRSNV 8/8 -
4-100059568-G-T ADH4 c.350+644C>A - IntronicSNV - 4/8
8-22172702-C-T PIWIL2 c.2208+44C>T - IntronicSNV - 18/22
6-31237406-G-C HLA-C c.1016-104C>G - IntronicSNV - 5/7
13-36857639-T-C CCDC169 c.282A>G p.Leu94Leu Synonymous 4/8 -
6-29645634-C-T ZFP57 c.1-854G>A - IntergenicSNV - 1/4
17-43924200-C-G SPPL2C c.1928C>G p.Pro643Arg Missense 1/1 -
6-32605884-C-T HLA-DQA1 c.82+567C>T - IntronicSNV - 1/4
6-32071893-C-T TNXB c.-9+5065G>A - intron_variant - 1/43
17-40835649-T-C CNTNAP1 c.68-190T>C - IntronicSNV - 1/23
6-32146492-C-A RNF5 c.140+64C>A - IntronicSNV - 1/5
17-26888725-G-C PIGS c.469-78C>G - IntronicSNV - 5/11
7-101256833-T-C MYL10 c.603A>G p.Ala201Ala Synonymous 8/8 -
2-234647478-A-G UGT1A4 c.867+19145A>G - IntronicSNV - 1/4
6-32138545-A-C AGPAT1 c.335-168T>G - IntronicSNV - 3/6
X-106396455-A-G NUP62CL c.477T>C p.Arg159Arg Synonymous 7/9 -
2-3658674-A-G COLEC11 c.131-2227A>G - IntronicSNV - 2/6
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
12-11174276-G-A TAS2R19 c.895C>T p.Arg299Cys Missense 1/1 -
X-44190465-C-T EFHC2 c.42+12328G>A - IntronicSNV - 1/14
2-234672722-T-G UGT1A1 c.864+2925T>G - IntronicSNV - 1/4
2-234672722-T-A UGT1A1 c.864+2925T>A - IntronicSNV - 1/4
7-2768864-T-C GNA12 c.*1951A>G - 3-UTRSNV 4/4 -
7-2768864-T-A GNA12 c.*1951A>T - 3-UTRSNV 4/4 -
17-40529835-A-G STAT3 c.-2+10462T>C - intron_variant - 1/23
10-35597715-T-C CCNY c.-9+58161T>C - intron_variant - 3/11
5-80723458-C-T SSBP2 c.1056+946G>A - IntronicSNV - 16/16
6-32172065-T-G NOTCH4 c.2967A>C p.Gly989Gly Synonymous 19/30 -
19-21115015-A-G ZNF85 c.4-1815A>G - IntronicSNV - 1/3
6-29342775-G-A OR12D3 c.290C>T p.Thr97Ile Missense 1/1 -
4-10082156-C-A WDR1 c.864+825G>T - IntronicSNV - 8/11
17-41244435-T-G BRCA1 c.3113A>C p.Glu1038Ala Missense 10/23 -
1-202718202-G-A KDM5B c.1887C>T p.His629His Synonymous 14/27 -
6-32411833-C-A HLA-DRA c.*146C>A - IntronicSNV - 4/4
7-141478800-G-A TAS2R4 c.512G>A p.Ser171Asn Missense 1/1 -
2-219156979-G-A TMBIM1 c.-41+210C>T - intron_variant - 1/11
11-61603510-C-T FADS2 c.208-1740C>T - IntronicSNV - 1/11
11-61603510-C-A FADS2 c.208-1740C>A - IntronicSNV - 1/11
17-10614442-A-G ADPRM c.1010A>G p.Glu337Gly Missense 4/4 -
1-246425984-A-G SMYD3 c.354+64519T>C - IntronicSNV - 5/11
1-22451845-T-C WNT4 c.314-3776A>G - IntronicSNV - 2/4
1-22451845-T-G WNT4 c.314-3776A>C - IntronicSNV - 2/4
1-227942842-T-A SNAP47 c.633-3854T>A - IntronicSNV - 2/4
1-227942842-T-C SNAP47 c.633-3854T>C - IntronicSNV - 2/4
1-227942842-T-G SNAP47 c.633-3854T>G - IntronicSNV - 2/4
11-870446-G-C CHID1 c.1013C>G p.Ala338Gly Missense 11/13 -
1-153613783-A-G CHTOP c.220-939A>G - IntronicSNV - 3/5
1-153613783-A-T CHTOP c.220-939A>T - IntronicSNV - 3/5
14-93171553-A-C LGMN c.1192-501T>G - IntronicSNV - 12/13
5-77759362-A-T SCAMP1 c.849+4177A>T - intron_variant - 9/9
5-77759362-A-G SCAMP1 c.849+4177A>G - intron_variant - 9/9
6-29648377-T-C ZFP57 c.-364+462A>G - intron_variant - 1/4
1-236207687-C-T NID1 c.752+1070G>A - IntronicSNV - 3/19
10-1157410-A-G WDR37 c.1103+6203A>G - IntronicSNV - 11/13
12-93787584-G-T NUDT4 c.100-801G>T - IntronicSNV - 1/4
10-88546128-A-C BMPR1A c.-268+29452A>C - intron_variant - 1/12
7-2004421-C-G MAD1L1 c.1506-7067G>C - IntronicSNV - 15/18
2-178679676-C-T PDE11A c.405+1880G>A - IntronicSNV - 6/16
17-7164563-C-T CLDN7 c.224-259G>A - IntronicSNV - 1/3
17-7164563-C-G CLDN7 c.224-259G>C - IntronicSNV - 1/3
11-72429141-G-A ARAP1 c.510-3775C>T - IntronicSNV - 3/34
4-157683685-C-T PDGFC c.*557G>A - 3-UTRSNV 6/6 -
10-104637992-A-T AS3MT c.611-144A>T - IntronicSNV - 7/10
15-67361308-T-G SMAD3 c.206+2610T>G - IntronicSNV - 1/8
6-30032522-A-C ZNRD1 c.*48A>C - 3-UTRSNV 5/5 -
17-10617803-G-A TMEM220 c.*967C>T - 3-UTRSNV 6/6 -
7-1094819-G-A C7orf50 c.130-45040C>T - IntronicSNV - 2/4
7-158711584-A-G WDR60 c.1921+24A>G - IntronicSNV - 15/24
16-10232086-A-T GRIN2A c.414+41769T>A - IntronicSNV - 3/13
6-42932200-G-T PEX6 c.2816C>A p.Pro939Gln Missense 17/17 -
6-42932200-G-C PEX6 c.2816C>G p.Pro939Arg Missense 17/17 -
2-24502554-G-T ITSN2 c.1945-3836C>A - IntronicSNV - 17/39
4-76903036-A-G SDAD1 c.195+50T>C - IntronicSNV - 2/21
6-32554472-A-C HLA-DRB1 c.101-2317T>G - IntronicSNV - 1/5
17-44073973-T-C MAPT c.1716T>C p.Asn572Asn Synonymous 10/14 -
11-118486067-T-C PHLDB1 c.184+670T>C - IntronicSNV - 4/23
6-32160920-C-A GPSM3 c.1-630G>T - IntronicSNV - 3/7
3-41930219-A-T ULK4 c.1578-4775T>A - IntronicSNV - 16/36
3-129274363-G-T PLXND1 c.*792C>A - 3-UTRSNV 36/36 -
17-80762839-T-C TBCD c.951-912T>C - IntronicSNV - 9/38
10-94414263-A-T KIF11 c.*710A>T - 3-UTRSNV 22/22 -
3-194325383-C-G TMEM44 c.1018-209G>C - IntronicSNV - 8/10
17-44249199-T-A KANSL1 c.311A>T p.Lys104Met Missense 2/15 -
17-6481933-G-A KIAA0753 c.*1134C>T - 3-UTRSNV 19/19 -
17-6481933-G-C KIAA0753 c.*1134C>G - 3-UTRSNV 19/19 -
6-30977680-G-A MUC22 c.1-804G>A - IntronicSNV - 1/4
15-93610139-A-G RGMA c.130+6006T>C - IntronicSNV - 2/3
7-2057934-C-T MAD1L1 c.1219-3657G>A - IntronicSNV - 12/18
17-28646057-A-G TMIGD1 c.641-126T>C - IntronicSNV - 4/6
2-86362204-C-G PTCD3 c.1778+94C>G - IntronicSNV - 21/23
2-86362204-C-A PTCD3 c.1778+94C>A - IntronicSNV - 21/23
2-86362204-C-T PTCD3 c.1778+94C>T - IntronicSNV - 21/23
2-55757885-T-C CFAP36 c.397+1757T>C - IntronicSNV - 4/9
2-55757885-T-G CFAP36 c.397+1757T>G - IntronicSNV - 4/9
19-37686953-G-T ZNF585B c.73-5901C>A - IntronicSNV - 2/4
6-31717692-A-G MSH5 c.812+2483A>G - IntronicSNV - 10/24
6-31717692-A-C MSH5 c.812+2483A>C - IntronicSNV - 10/24
12-123447928-T-C ABCB9 c.-88+2906A>G - intron_variant - 1/10
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12
6-31094703-C-T PSORS1C1 c.-65+1087C>T - intron_variant - 2/5
17-40835922-A-C CNTNAP1 c.151A>C p.Arg51Arg Synonymous 2/24 -
12-120884291-C-T GATC c.8C>T p.Ser3Leu Missense 1/4 -
11-61604814-C-A FADS2 c.208-436C>A - IntronicSNV - 1/11
16-10216024-G-C GRIN2A c.414+57831C>G - IntronicSNV - 3/13
16-10216024-G-A GRIN2A c.414+57831C>T - IntronicSNV - 3/13
6-32628428-C-A HLA-DQB1 c.773-402G>T - IntronicSNV - 4/4
2-169721381-A-G NOSTRIN c.1188A>G p.Gly396Gly Synonymous 15/15 -
11-47385923-G-A SPI1 c.143-4332C>T - IntronicSNV - 2/4
6-31083656-G-A CDSN c.*146C>T - 3-UTRSNV 2/2 -
9-136139265-C-A ABO c.29-1694G>T - IntronicSNV - 1/7
6-32411035-A-T HLA-DRA c.402A>T p.Ile134Ile Synonymous 3/5 -
14-93171553-A-T LGMN c.1192-501T>A - IntronicSNV - 12/13
1-3086496-C-G PRDM16 c.38-16193C>G - IntronicSNV - 1/16
1-3086496-C-T PRDM16 c.38-16193C>T - IntronicSNV - 1/16
8-22154133-T-C PIWIL2 c.1181+6274T>C - IntronicSNV - 10/22
6-29644502-C-T ZFP57 c.123+156G>A - IntronicSNV - 2/4
6-29644502-C-G ZFP57 c.123+156G>C - IntronicSNV - 2/4
12-123572495-C-T PITPNM2 c.-96+22437G>A - intron_variant - 1/24
2-188230146-C-T CALCRL c.501-1917G>A - IntronicSNV - 8/14
15-100842614-T-A ADAMTS17 c.617-21008A>T - IntronicSNV - 3/21
2-188230146-C-A CALCRL c.501-1917G>T - IntronicSNV - 8/14
4-141379314-T-C MGAT4D c.877+1352A>G - IntronicSNV - 8/10
15-83430396-T-C FSD2 c.1997+458A>G - IntronicSNV - 12/12
9-130698029-G-C DPM2 c.227C>G p.Thr76Ser Missense 4/4 -
15-78742754-C-G IREB2 c.106+10531C>G - IntronicSNV - 2/21
15-78742754-C-A IREB2 c.106+10531C>A - IntronicSNV - 2/21
6-116305064-T-C FRK c.467-15162A>G - IntronicSNV - 2/7
1-231550168-A-G EGLN1 c.891+6576T>C - IntronicSNV - 1/4
15-82444437-A-G EFL1 c.2358T>C p.Gly786Gly Synonymous 18/20 -
1-205762406-C-T SLC41A1 c.1357-1560G>A - IntronicSNV - 10/10
8-101222499-A-T SPAG1 c.1097-2819A>T - IntronicSNV - 10/18
8-101222499-A-G SPAG1 c.1097-2819A>G - IntronicSNV - 10/18
1-231550168-A-C EGLN1 c.891+6576T>G - IntronicSNV - 1/4
1-214466068-G-A SMYD2 c.173+11298G>A - IntronicSNV - 1/11
3-195048814-A-T ACAP2 c.670-1126T>A - IntronicSNV - 8/22
11-74559481-C-T XRRA1 c.1383G>A p.Pro461Pro Synonymous 15/19 -
2-108912673-C-A SULT1C2 c.277+1863C>A - IntronicSNV - 3/8
1-1812521-C-A GNB1 c.-96+9738G>T - intron_variant - 1/11
5-176814656-G-A SLC34A1 c.533-107G>A - IntronicSNV - 5/12
17-56659018-C-T TEX14 c.3263G>A p.Gly1088Asp Missense 20/33 -
6-31132649-A-C POU5F1 c.817-5T>G - IntronicSNV - 4/4
6-30036083-C-A PPP1R11 c.70-284C>A - IntronicSNV - 1/2
17-44247164-A-G KANSL1 c.1289+1057T>C - IntronicSNV - 2/14
6-32410576-T-A HLA-DRA c.328+106T>A - IntronicSNV - 2/4
6-32410576-T-C HLA-DRA c.328+106T>C - IntronicSNV - 2/4
15-40915045-T-G KNL1 c.2583T>G p.Thr861Thr Synonymous 10/26 -
8-145631197-A-C CPSF1 c.144+3202T>G - IntronicSNV - 2/37
11-44881786-C-T TSPAN18 c.-152-93C>T - intron_variant - 2/9
8-145044749-A-G PLEC c.193+4596T>C - IntronicSNV - 2/32
8-145580984-A-G FBXL6 c.621+133T>C - IntronicSNV - 3/8
1-86959424-C-A CLCA1 c.1680+142C>A - IntronicSNV - 10/13
17-7150552-A-G CTDNEP1 c.169+44T>C - IntronicSNV - 3/8
5-43539868-A-G PAIP1 c.735-731T>C - IntronicSNV - 4/10
5-43539868-A-C PAIP1 c.735-731T>G - IntronicSNV - 4/10
11-2544871-T-C KCNQ1 c.387-4287T>C - IntronicSNV - 1/15
11-8815115-T-C ST5 c.-26+17679A>G - intron_variant - 4/22
6-30689001-T-A TUBB c.57+661T>A - IntronicSNV - 1/3
6-30689001-T-G TUBB c.57+661T>G - IntronicSNV - 1/3
1-1812521-C-T GNB1 c.-96+9738G>A - intron_variant - 1/11
6-32171075-A-T NOTCH4 c.3231+472T>A - IntronicSNV - 20/29
2-234657983-T-C UGT1A4 c.868-17697T>C - IntronicSNV - 1/4
10-49801239-C-T ARHGAP22 c.35-10042G>A - IntronicSNV - 1/9
1-53073327-G-C GPX7 c.401-607G>C - IntronicSNV - 2/2
1-76213024-T-G ACADM c.708+1425T>G - IntronicSNV - 8/11
10-12661057-C-T CAMK1D c.225-47678C>T - IntronicSNV - 2/9
4-38019436-T-G TBC1D1 c.883-539T>G - IntronicSNV - 3/19
12-88949124-G-T KITLG c.16-9482C>A - IntronicSNV - 1/8
3-41862873-A-G ULK4 c.1765-1875T>C - IntronicSNV - 18/36
6-26373740-G-T BTN3A2 c.964+99G>T - IntronicSNV - 6/8
2-55460751-C-T RPS27A c.103+198C>T - IntronicSNV - 3/5
17-44102604-T-C MAPT c.*1067T>C - 3-UTRSNV 14/14 -
11-898155-T-C CHID1 c.608+1185A>G - IntronicSNV - 7/12
10-104618695-A-G BORCS7 c.142-1394A>G - IntronicSNV - 1/5
13-114835802-T-C RASA3 c.173+3393A>G - IntronicSNV - 2/23
3-41855284-C-T ULK4 c.1848+5631G>A - IntronicSNV - 19/36
6-32064726-T-G TNXB c.904A>C p.Thr302Pro Missense 3/44 -
19-36900778-A-C ZFP82 c.1-87T>G - IntronicSNV - 1/4
19-10666112-G-A KRI1 c.1618-87C>T - intron_variant - 16/18
1-76255228-G-A RABGGTB c.309+187G>A - IntronicSNV - 3/8
14-24898751-G-C CBLN3 c.1-491C>G - IntergenicSNV 1/3 -
3-158379649-G-A GFM1 c.1324-768G>A - IntronicSNV - 10/17
15-78865893-G-C CHRNA5 c.107-7260G>C - IntronicSNV - 1/5
15-78865893-G-A CHRNA5 c.107-7260G>A - IntronicSNV - 1/5
2-219293326-C-G VIL1 c.567+266C>G - IntronicSNV - 6/19
19-10666112-G-T KRI1 c.1618-87C>A - intron_variant - 16/18
2-234649302-G-A UGT1A4 c.867+20969G>A - IntronicSNV - 1/4
12-124099925-T-C DDX55 c.956+62T>C - IntronicSNV - 9/13
10-104891198-T-C NT5C2 c.175+7965A>G - IntronicSNV - 4/18
17-44862613-A-G WNT3 c.81-11338T>C - IntronicSNV - 1/4
9-33137303-C-T B4GALT1 c.413-1881G>A - IntronicSNV - 1/5
11-118538187-G-T TREH c.90-4039C>A - IntronicSNV - 1/15
6-26387546-C-T BTN2A2 c.443-695C>T - IntronicSNV - 3/7
11-118538187-G-A TREH c.90-4039C>T - IntronicSNV - 1/15
3-125733081-G-A SLC41A3 c.970+1256C>T - IntronicSNV - 8/10
2-3673648-G-A COLEC11 c.203-11475G>A - IntronicSNV - 3/6
11-18645843-C-G SPTY2D1 c.61-7307G>C - IntronicSNV - 1/5
11-18645843-C-A SPTY2D1 c.61-7307G>T - IntronicSNV - 1/5
17-7109995-A-G DLG4 c.225+1498T>C - IntronicSNV - 4/21
1-150664077-C-T GOLPH3L c.183+3055G>A - IntronicSNV - 2/4
2-219492924-T-C PLCD4 c.945T>C p.Cys315Cys Synonymous 7/16 -
16-67708897-A-G GFOD2 c.*161T>C - 3-UTRSNV 3/3 -
12-112440998-T-C TMEM116 c.-199+2063A>G - intron_variant - 2/9
X-106234294-T-C MORC4 c.308+2166A>G - IntronicSNV - 3/16
17-7164563-C-A CLDN7 c.224-259G>T - IntronicSNV - 1/3
7-44095999-T-G DBNL c.328-357T>G - IntronicSNV - 4/12
1-248128929-G-A OR2AK2 c.296G>A p.Ser99Asn Missense 1/1 -
6-33056694-T-C HLA-DPB1 c.*2383T>C - 3_prime_UTR_variant 6/6 -
1-231520874-C-G EGLN1 c.892-11029G>C - IntronicSNV - 1/4
15-79082431-A-G ADAMTS7 c.1029-251T>C - IntronicSNV - 6/23
7-1542697-G-A INTS1 c.189C>T p.Ala63Ala Synonymous 3/48 -
4-2941988-T-C NOP14 c.2200-616A>G - IntronicSNV - 15/18
12-11060695-T-C TAS2R13 c.*291A>G - 3-UTRSNV 1/1 -
12-120155577-G-A CIT c.4042+473C>T - IntronicSNV - 31/46
7-73245519-T-C CLDN4 c.1-13T>C - 5-UTRSNV 1/1 -
7-26403574-T-C SNX10 c.112-581T>C - IntronicSNV - 3/6
1-85738395-G-A BCL10 c.58-1806C>T - IntronicSNV - 1/2
15-40746748-A-C BAHD1 c.1-3916A>C - IntronicSNV - 1/6
14-75388183-C-T RPS6KL1 c.62G>A p.Arg21Gln Missense 3/12 -
14-75388183-C-G RPS6KL1 c.62G>C p.Arg21Pro Missense 3/12 -
15-82444437-A-T EFL1 c.2358T>A p.Gly786Gly Synonymous 18/20 -
19-36902219-C-A ZFP82 c.1-1528G>T - IntronicSNV - 1/4
3-12116620-G-A SYN2 c.378-65531G>A - intron_variant - 2/13
14-93170741-T-C LGMN c.1260-35A>G - IntronicSNV - 13/13
13-53228119-C-T SUGT1 c.96+881C>T - IntronicSNV - 2/13
6-30122623-T-C TRIM10 c.929-360A>G - IntronicSNV - 6/6
7-40225129-C-T SUGCT c.248-2965C>T - IntronicSNV - 3/14
6-31475413-G-C MICB c.1024+105G>C - IntronicSNV - 5/5
6-31475413-G-A MICB c.1024+105G>A - IntronicSNV - 5/5
9-139878317-C-T LCNL1 c.122+157C>T - IntronicSNV - 1/2
1-230818304-G-A COG2 c.1167-1016G>A - IntronicSNV - 10/17
13-53309433-T-C CNMD c.214-1939A>G - IntronicSNV - 2/6
17-41179864-C-G RND2 c.301-214C>G - IntronicSNV - 3/4
17-41179864-C-T RND2 c.301-214C>T - IntronicSNV - 3/4
2-668618-T-C TMEM18 c.*962A>G - 3-UTRSNV 5/5 -
9-140205159-T-G EXD3 c.2185-1007A>C - IntronicSNV - 19/21
3-134261654-C-A CEP63 c.556-2774C>A - IntronicSNV - 7/15
3-134261654-C-T CEP63 c.556-2774C>T - IntronicSNV - 7/15
1-237046160-A-G MTR c.2676+2024A>G - IntronicSNV - 25/32
1-150729793-G-A CTSS c.249+541C>T - IntronicSNV - 3/7
1-40035686-C-T PABPC4 c.504-12G>A - IntronicSNV - 3/15
1-40035686-C-A PABPC4 c.504-12G>T - IntronicSNV - 3/15
6-30168319-G-T TRIM26 c.-162+493C>A - intron_variant - 3/9
10-104637992-A-G AS3MT c.611-144A>G - IntronicSNV - 7/10
17-28603685-T-C BLMH c.646-2470A>G - IntronicSNV - 6/11
13-53228119-C-G SUGT1 c.96+881C>G - IntronicSNV - 2/13
2-3660752-T-C COLEC11 c.131-149T>C - IntronicSNV - 2/6
1-36861854-A-C LSM10 c.-25+1514T>G - intron_variant - 1/1
10-1166400-C-A WDR37 c.1104-3758C>A - IntronicSNV - 11/13
17-43907896-T-C CRHR1 c.756T>C p.Thr252Thr Synonymous 8/14 -
3-41877414-T-C ULK4 c.1706A>G p.Lys569Arg Missense 18/37 -
6-31733466-T-C VWA7 c.2581A>G p.Thr861Ala Missense 17/17 -
3-186436398-A-G KNG1 c.195+872A>G - IntronicSNV - 1/9
7-65376456-C-T VKORC1L1 c.195-37202C>T - IntronicSNV - 1/2
8-22133744-C-A PIWIL2 c.-47+202C>A - intron_variant - 1/22
3-15737698-T-C ANKRD28 c.1512A>G p.Gln504Gln Synonymous 15/28 -
1-182760859-G-T NPL c.-71-508G>T - intron_variant - 1/12
17-4876446-C-T CAMTA2 c.2280+24G>A - IntronicSNV - 14/22
19-50396263-T-C IL4I1 c.633+1262A>G - IntronicSNV - 7/9
22-42336172-G-A CENPM c.403-972C>T - IntronicSNV - 5/5
22-42336172-G-C CENPM c.403-972C>G - IntronicSNV - 5/5
10-1166400-C-T WDR37 c.1104-3758C>T - IntronicSNV - 11/13
1-26646730-A-G CD52 c.123A>G p.Ile41Met Missense 2/2 -
19-37879589-A-G ZNF527 c.638A>G p.His213Arg Missense 5/5 -
19-37879589-A-T ZNF527 c.638A>T p.His213Leu Missense 5/5 -
2-219338789-T-A USP37 c.2299+564A>T - IntronicSNV - 20/25
1-235642359-A-C B3GALNT2 c.651+1011T>G - IntronicSNV - 5/11
1-235642359-A-G B3GALNT2 c.651+1011T>C - IntronicSNV - 5/11
4-100054312-A-G ADH4 c.583-1397T>C - IntronicSNV - 5/8
1-150804429-A-C ARNT c.825-50T>G - IntronicSNV - 8/20
14-90753556-A-G NRDE2 c.3159-720T>C - IntronicSNV - 11/13
18-77510030-A-G CTDP1 c.2748-3622A>G - IntronicSNV - 12/12
12-88904764-C-T KITLG c.521-3850G>A - IntronicSNV - 5/8
16-28922149-C-G RABEP2 c.1089+60G>C - IntronicSNV - 7/12
16-28922149-C-T RABEP2 c.1089+60G>A - IntronicSNV - 7/12
6-32408012-G-A HLA-DRA c.82+203G>A - IntronicSNV - 1/4
3-41925398-C-T ULK4 c.1624G>A p.Ala542Thr Missense 17/37 -
3-41925398-C-G ULK4 c.1624G>C p.Ala542Pro Missense 17/37 -
11-14709324-A-G PDE3B c.978+42725A>G - IntronicSNV - 1/15
6-28124114-C-T ZKSCAN8 c.*2319C>T - 3-UTRSNV 7/7 -
6-31521302-G-T NFKBIL1 c.335-4103G>T - IntronicSNV - 2/3
6-31521302-G-C NFKBIL1 c.335-4103G>C - IntronicSNV - 2/3
17-78079643-C-T GAA c.642C>T p.Ser214Ser Synonymous 3/20 -
3-125797913-G-A SLC41A3 c.-28+5023C>T - intron_variant - 1/10
15-102025218-G-A PCSK6 c.294+4361C>T - intron_variant - 2/22
3-69096614-G-T TMF1 c.1242C>A p.Ser414Ser Synonymous 2/17 -
3-69096614-G-A TMF1 c.1242C>T p.Ser414Ser Synonymous 2/17 -
3-69096614-G-C TMF1 c.1242C>G p.Ser414Ser Synonymous 2/17 -
17-43924337-A-C SPPL2C c.*10A>C - 3-UTRSNV 1/1 -
19-50396263-T-A IL4I1 c.633+1262A>T - IntronicSNV - 7/9
12-39130885-G-C CPNE8 c.723-6725C>G - IntronicSNV - 10/19
12-39130885-G-A CPNE8 c.723-6725C>T - IntronicSNV - 10/19
6-32190028-A-G NOTCH4 c.451+260T>C - IntronicSNV - 3/29
6-32155581-A-G PBX2 c.735-22T>C - IntronicSNV - 4/8
6-32160920-C-T GPSM3 c.1-630G>A - IntronicSNV - 3/7
19-33140381-A-T ANKRD27 c.213+207T>A - IntronicSNV - 3/28
17-44111613-A-G KANSL1 c.2580T>C p.Phe860Phe Synonymous 11/15 -
3-129274363-G-A PLXND1 c.*792C>T - 3-UTRSNV 36/36 -
9-136137106-G-A ABO c.99-329C>T - IntronicSNV - 2/7
7-43709735-C-T COA1 c.1-21522G>A - IntronicSNV - 1/5
17-35643510-A-G ACACA c.228-1639T>C - IntronicSNV - 3/55
1-110277949-T-C GSTM3 c.*1744A>G - 3-UTRSNV 9/9 -
1-150657011-T-G GOLPH3L c.183+10121A>C - IntronicSNV - 2/4
1-150657011-T-C GOLPH3L c.183+10121A>G - IntronicSNV - 2/4
10-124214921-C-T ARMS2 c.297+381C>T - IntronicSNV - 1/1
2-3646226-T-C COLEC11 c.-27+3468T>C - intron_variant - 1/6
3-194325383-C-T TMEM44 c.1018-209G>A - IntronicSNV - 8/10
2-86330726-A-G POLR1A c.77+2097T>C - IntronicSNV - 1/33
17-34005513-C-T AP2B1 c.2324+4173C>T - IntronicSNV - 17/21
12-112323016-C-T MAPKAPK5 c.849-704C>T - IntronicSNV - 9/13
12-112323016-C-G MAPKAPK5 c.849-704C>G - IntronicSNV - 9/13
3-125733081-G-T SLC41A3 c.970+1256C>A - IntronicSNV - 8/10
22-45245359-C-T PRR5-ARHGAP8 c.1270+419C>T - intron_variant - 13/14
4-10087995-C-T WDR1 c.531+1336G>A - IntronicSNV - 5/11
4-9944650-T-G SLC2A9 c.595-981A>C - IntronicSNV - 6/12
17-41257134-T-C BRCA1 c.213-161A>G - IntronicSNV - 4/22
6-126081319-G-T HEY2 c.*371G>T - 3-UTRSNV 5/5 -
10-135217175-C-T MTG1 c.752+898C>T - IntronicSNV - 9/10
11-14784110-G-C PDE3B c.979-9373G>C - IntronicSNV - 1/15
1-145533175-T-C ITGA10 c.1270T>C p.Leu424Leu Synonymous 11/30 -
1-26627478-T-G UBXN11 c.100+707A>C - IntronicSNV - 4/14
1-44438396-A-C DPH2 c.*185A>C - 3-UTRSNV 6/6 -
17-78091405-G-T GAA c.2338G>T p.Val780Leu Missense 17/20 -
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
19-49979893-A-G FLT3LG c.342+70A>G - IntronicSNV - 5/8
17-40724276-C-T MLX c.*655C>T - 3-UTRSNV 8/8 -
8-144695499-C-A TSTA3 c.811-34G>T - IntronicSNV - 9/10
X-106330707-T-C RBM41 c.927+959A>G - IntronicSNV - 5/6
6-32411850-T-C HLA-DRA c.*163T>C - IntronicSNV 5/5 -
6-32411850-T-G HLA-DRA c.*163T>G - IntronicSNV 5/5 -
17-28646057-A-T TMIGD1 c.641-126T>A - IntronicSNV - 4/6
6-31083156-A-G CDSN c.*646T>C - 3-UTRSNV 2/2 -
1-227957591-C-T SNAP47 c.1248+2807C>T - IntronicSNV - 4/4
12-121128926-C-T MLEC c.236-2968C>T - IntronicSNV - 1/4
1-182369078-G-A TEDDM1 c.543C>T p.Pro181Pro Synonymous 1/1 -
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
9-140677678-T-C EHMT1 c.2382+829T>C - IntronicSNV - 15/26
4-100054827-C-T ADH4 c.583-1912G>A - IntronicSNV - 5/8
8-144695499-C-T TSTA3 c.811-34G>A - IntronicSNV - 9/10
9-136538366-G-C SARDH c.2164-1547C>G - IntronicSNV - 17/20
12-110341933-A-C TCHP c.380A>C p.Lys127Thr Missense 3/13 -
22-36007045-G-T MB c.204C>A p.Thr68Thr Synonymous 3/4 -
8-145582839-T-C SLC52A2 c.1-115T>C - IntronicSNV - 1/4
6-32411523-T-A HLA-DRA c.611-10T>A - IntronicSNV - 3/4
6-32411523-T-C HLA-DRA c.611-10T>C - IntronicSNV - 3/4
8-38855847-T-C ADAM9 c.97+1168T>C - IntronicSNV - 1/21
6-33625696-T-C ITPR3 c.283-13T>C - IntronicSNV - 3/57
3-129190001-G-T IFT122 c.639+1741G>T - IntronicSNV - 8/28
2-3645429-C-T COLEC11 c.-27+2671C>T - intron_variant - 1/6
17-44054696-G-A MAPT c.308-1045G>A - IntronicSNV - 4/13
22-36007045-G-A MB c.204C>T p.Thr68Thr Synonymous 3/4 -
4-99952710-A-G METAP1 c.166+2641A>G - IntronicSNV - 2/10
6-29646879-T-C ZFP57 c.1-2099A>G - IntergenicSNV - 1/4
1-227834400-G-T ZNF678 c.250+29G>T - IntronicSNV - 3/3
16-9910348-A-C GRIN2A c.2168+5773T>G - IntronicSNV - 11/13
6-31838713-G-T SLC44A4 c.687C>A p.Tyr229* Nonsense 9/20 -
6-31838713-G-A SLC44A4 c.687C>T p.Tyr229Tyr Synonymous 9/20 -
2-86315741-C-T POLR1A c.678G>A p.Thr226Thr Synonymous 6/34 -
9-5181610-T-C INSL6 c.289+3704A>G - IntronicSNV - 1/1
11-56143424-A-G OR8U1 c.325A>G p.Ile109Val Missense 1/1 -
19-41932084-G-C B3GNT8 c.600C>G p.Ala200Ala Synonymous 3/3 -
17-43923180-G-C SPPL2C c.908G>C p.Arg303Pro Missense 1/1 -
17-43923180-G-A SPPL2C c.908G>A p.Arg303His Missense 1/1 -
1-227966581-T-C SNAP47 c.1249-1647T>C - IntronicSNV - 4/4
17-43549526-A-G PLEKHM1 c.923+2940T>C - IntronicSNV - 4/11
4-38018181-C-T TBC1D1 c.882+1587C>T - IntronicSNV - 3/19
15-40757035-A-C BAHD1 c.2052+289A>C - IntronicSNV - 5/6
8-144351394-A-G GLI4 c.1-173A>G - IntronicSNV - 1/3
17-35675511-T-G ACACA c.227+11602A>C - IntronicSNV - 3/55
1-26646726-A-G CD52 c.119A>G p.Asn40Ser Missense 2/2 -
8-145034852-G-A PLEC c.193+14493C>T - IntronicSNV - 2/32
19-36858085-T-C ZFP14 c.9+701A>G - IntronicSNV - 2/4
3-15797454-A-G ANKRD28 c.191-4127T>C - IntronicSNV - 3/27
1-26596080-G-A CEP85 c.1624G>A p.Ala542Thr Missense 9/14 -
1-154438084-C-T IL6R c.*228C>T - 3-UTRSNV 10/10 -
17-78078709-T-C GAA c.324T>C p.Cys108Cys Synonymous 2/20 -
9-123685092-T-C TRAF1 c.228+891A>G - IntronicSNV - 3/7
7-30694260-C-T CRHR2 c.1176+395G>A - IntronicSNV - 12/12
2-219472734-G-A PLCD4 c.-93G>A - 5_prime_UTR_variant 1/16 -
6-21130870-A-G CDKAL1 c.1299+22176A>G - IntronicSNV - 13/15
19-36825458-C-T ZFP14 c.*5668G>A - 3-UTRSNV 5/5 -
7-2268970-A-G MAD1L1 c.150+649T>C - IntronicSNV - 3/18
11-74553834-C-T XRRA1 c.*411G>A - 3-UTRSNV 19/19 -
17-14101029-G-T COX10 c.928+5491G>T - IntronicSNV - 6/6
17-14101029-G-A COX10 c.928+5491G>A - IntronicSNV - 6/6
15-78841220-T-A PSMA4 c.720T>A p.His240Gln Missense 9/9 -
15-85310071-G-A ZNF592 c.-150+2025G>A - intron_variant - 2/10
13-44058595-A-G ENOX1 c.1-71545T>C - IntronicSNV - 2/16
7-73246461-A-G CLDN4 c.*300A>G - 3-UTRSNV 1/1 -
17-10617803-G-T TMEM220 c.*967C>A - 3-UTRSNV 6/6 -
5-118691888-A-C TNFAIP8 c.31+72A>C - IntronicSNV - 1/1
3-98002587-A-T OR5H2 c.856A>T p.Ile286Leu Missense 1/1 -
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
X-106396402-A-G NUP62CL c.530T>C p.Ile177Thr Missense 7/9 -
2-187710756-A-G ZSWIM2 c.243-1272T>C - IntronicSNV - 2/8
1-154516578-G-A TDRD10 c.643G>A p.Val215Ile Missense 9/13 -
6-33624733-A-G ITPR3 c.283-976A>G - IntronicSNV - 3/57
6-32627714-T-G HLA-DQB1 c.*299A>C - 3-UTRSNV 5/5 -
2-198906354-A-G PLCL1 c.241-42128A>G - IntronicSNV - 1/5
21-44987079-C-T HSF2BP c.796+25027G>A - IntronicSNV - 8/8
17-30533970-A-G RHOT1 c.1458A>G p.Glu486Glu Synonymous 17/19 -
1-154438084-C-G IL6R c.*228C>G - 3-UTRSNV 10/10 -
1-76331320-T-A MSH4 c.1231-1879T>A - IntronicSNV - 8/19
11-108719088-G-A DDX10 c.2248-3792G>A - IntronicSNV - 15/17
19-41932612-C-T B3GNT8 c.72G>A p.Glu24Glu Synonymous 3/3 -
9-133367704-G-T ASS1 c.971-2550G>T - IntronicSNV - 13/15
17-44068924-G-A MAPT c.1479G>A p.Pro493Pro Synonymous 9/14 -
17-44068924-G-T MAPT c.1479G>T p.Pro493Pro Synonymous 9/14 -
7-65683317-T-G TPST1 c.-102+12808T>G - intron_variant - 1/5
19-1495277-C-T REEP6 c.116-16C>T - IntronicSNV - 1/4
19-1495277-C-G REEP6 c.116-16C>G - IntronicSNV - 1/4
11-118478330-G-C PHLDB1 c.-179+943G>C - intron_variant - 1/23
19-36903262-G-A ZFP82 c.1-2571C>T - IntronicSNV - 1/4
17-44248814-G-A KANSL1 c.696C>T p.Ser232Ser Synonymous 2/15 -
15-85330745-C-T ZNF592 c.2220+2619C>T - IntronicSNV - 4/10
17-56517962-G-A HSF5 c.1720+18167C>T - IntronicSNV - 5/5
4-174156538-A-G GALNT7 c.127-12593A>G - IntronicSNV - 1/11
1-203800426-G-A ZC3H11A c.701-363G>A - IntronicSNV - 10/19
11-48238549-G-A OR4B1 c.188G>A p.Cys63Tyr Missense 1/1 -
9-136139265-C-T ABO c.29-1694G>A - IntronicSNV - 1/7
1-150938571-G-A CERS2 c.*53C>T - 3-UTRSNV 11/11 -
13-36823765-C-T CCDC169 c.469-946G>A - IntronicSNV - 6/7
9-136536679-G-T SARDH c.2304C>A p.Ile768Ile Synonymous 18/21 -
11-36448379-T-C PRR5L c.295-5024T>C - IntronicSNV - 5/9
7-99691737-T-C MCM7 c.1320+59A>G - IntronicSNV - 12/13
14-105344568-C-T CEP170B c.275-212C>T - IntronicSNV - 4/18
4-100059619-G-A ADH4 c.350+593C>T - IntronicSNV - 4/8
4-100059619-G-T ADH4 c.350+593C>A - IntronicSNV - 4/8
6-33173842-G-A HSD17B8 c.652-69G>A - IntronicSNV - 6/8
1-36861854-A-T LSM10 c.-25+1514T>A - intron_variant - 1/1
16-28933468-C-T RABEP2 c.275-2204G>A - IntronicSNV - 2/12
6-101295873-A-G ASCC3 c.801+151T>C - IntronicSNV - 4/41
2-24432839-A-G ITSN2 c.4321T>C p.Leu1441Leu Synonymous 35/40 -
5-81533735-C-T ATG10 c.454-14646C>T - IntronicSNV - 6/8
11-892760-A-G CHID1 c.701+667T>C - IntronicSNV - 8/12
11-14913575-G-A CYP2R1 c.177C>T p.Ser59Ser Synonymous 1/5 -
8-22133744-C-G PIWIL2 c.-47+202C>G - intron_variant - 1/22
X-106379628-G-A NUP62CL c.*11387C>T - IntronicSNV - 8/8
7-65587537-C-T CRCP c.9-5154C>T - IntronicSNV - 1/5
7-65587537-C-G CRCP c.9-5154C>G - IntronicSNV - 1/5
19-17920758-T-G B3GNT3 c.567+1575T>G - IntronicSNV - 2/2
3-49763338-T-G IP6K1 c.*1217A>C - 3-UTRSNV 6/6 -
6-167710324-T-G UNC93A c.499+575T>G - IntronicSNV - 3/7
8-22134826-T-C PIWIL2 c.-47+1284T>C - intron_variant - 1/22
7-141463914-T-A TAS2R3 c.1-45T>A - 5-UTRSNV 1/1 -
10-102016268-G-A CWF19L1 c.290-35C>T - IntronicSNV - 4/13
19-33100338-T-C ANKRD27 c.2176-1600A>G - IntronicSNV - 22/28
6-46682079-A-C PLA2G7 c.470+118T>G - IntronicSNV - 5/11
18-74694985-T-C MBP c.549+1746A>G - IntronicSNV - 6/6
1-9325676-C-T H6PD c.*748C>T - 3-UTRSNV 5/5 -
4-120239944-C-T FABP2 c.*252G>A - 3-UTRSNV 4/4 -
4-120416445-C-T PDE5A c.*3311G>A - 3-UTRSNV 21/21 -
10-104572963-T-C WBP1L c.904T>C p.Ser302Pro Missense 4/4 -
4-141403999-C-A MGAT4D c.95-360G>T - IntronicSNV - 1/10
15-82431219-A-G EFL1 c.2990-36T>C - IntronicSNV - 18/19
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
6-31083813-T-C CDSN c.1579A>G p.Asn527Asp Missense 2/2 -
4-49063872-C-A CWH43 c.2065C>A p.His689Asn Missense 16/16 -
22-37493178-G-A TMPRSS6 c.364-423C>T - IntronicSNV - 3/17
6-31083813-T-G CDSN c.1579A>C p.Asn527His Missense 2/2 -
11-19848918-C-T NAV2 c.268-5112C>T - IntronicSNV - 1/37
19-33467087-A-C FAAP24 c.397-250A>C - IntronicSNV - 4/4
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
2-27742603-T-C GCKR c.1572+799T>C - IntronicSNV - 17/18
6-32409484-C-T HLA-DRA c.83-741C>T - IntronicSNV - 1/4
2-234658250-A-G UGT1A4 c.868-17430A>G - IntronicSNV - 1/4
6-31084288-T-C CDSN c.1104A>G p.Ala368Ala Synonymous 2/2 -
8-116660365-A-G TRPS1 c.-122+20407T>C - intron_variant - 1/6
10-34459326-C-T PARD3 c.3429-38815G>A - IntronicSNV - 22/24
15-42875276-C-A STARD9 c.48-268C>A - IntronicSNV - 1/32
2-219562675-G-A STK36 c.2945G>A p.Gly982Asp Missense 25/27 -
17-43910455-G-A CRHR1 c.858-49G>A - IntronicSNV - 9/13
2-234673462-T-C UGT1A1 c.865-2218T>C - IntronicSNV - 1/4
16-89420356-A-C ANKRD11 c.1-36929T>G - IntronicSNV - 2/12
16-89420356-A-G ANKRD11 c.1-36929T>C - IntronicSNV - 2/12
6-32190217-T-C NOTCH4 c.451+71A>G - IntronicSNV - 3/29
11-2548175-C-T KCNQ1 c.387-983C>T - IntronicSNV - 1/15
14-72696620-C-A RGS6 c.85-122183C>A - IntronicSNV - 2/17
17-10080030-T-C GAS7 c.183+21495A>G - IntronicSNV - 1/13
6-167707727-C-T UNC93A c.88-278C>T - IntronicSNV - 1/7
11-65665200-C-T FOSL1 c.100-723G>A - IntronicSNV - 1/3
2-86365884-G-A PTCD3 c.*1202G>A - 3-UTRSNV 24/24 -
19-37684966-A-G ZNF585B c.73-3914T>C - IntronicSNV - 2/4
16-28898793-T-C ATP2A1 c.678T>C p.Thr226Thr Synonymous 8/23 -
15-86289363-G-A AKAP13 c.*1455G>A - 3-UTRSNV 37/37 -
17-7109995-A-T DLG4 c.225+1498T>A - IntronicSNV - 4/21
21-44324365-G-A NDUFV3 c.170-4609G>A - IntronicSNV - 2/2
2-236859195-T-G AGAP1 c.1325-17911T>G - IntronicSNV - 11/16
2-236859195-T-C AGAP1 c.1325-17911T>C - IntronicSNV - 11/16
2-236859195-T-A AGAP1 c.1325-17911T>A - IntronicSNV - 11/16
10-34471937-G-T PARD3 c.3429-51426C>A - IntronicSNV - 22/24
1-200957032-G-A KIF21B c.3408+392C>T - IntronicSNV - 24/34
6-30075103-T-G TRIM31 c.883+727A>C - IntronicSNV - 6/8
6-31097453-T-A PSORS1C1 c.13+31T>A - IntronicSNV - 3/5
9-5174638-T-C INSL6 c.290-10373A>G - IntronicSNV - 1/1
11-118529595-A-G TREH c.1545+19T>C - IntronicSNV - 13/15
6-31498737-G-A DDX39B c.1123-34C>T - IntronicSNV - 9/10
7-6620757-A-G ZDHHC4 c.117+448A>G - IntronicSNV - 3/7
2-198517592-A-G RFTN2 c.140-6202T>C - IntronicSNV - 1/8
4-57904387-C-T IGFBP7 c.585+2603G>A - IntronicSNV - 2/3
1-78557608-A-G GIPC2 c.427-3028A>G - IntronicSNV - 2/5
16-56400976-C-T AMFR c.1599+380G>A - IntronicSNV - 12/13
6-30039484-C-T RNF39 c.683-16G>A - IntronicSNV - 3/4
11-74525852-T-C RNF169 c.724-2789T>C - IntronicSNV - 3/5
11-876755-T-G CHID1 c.960-6256A>C - IntronicSNV - 10/12
6-29645118-G-C ZFP57 c.1-338C>G - IntergenicSNV 2/5 -
6-29645118-G-A ZFP57 c.1-338C>T - IntergenicSNV 2/5 -
6-62525626-G-T KHDRBS2 c.810+78914C>A - IntronicSNV - 6/8
11-14325401-C-A RRAS2 c.109-8000G>T - IntronicSNV - 1/5
8-8206753-A-G PRAG1 c.2157-9602T>C - IntronicSNV - 3/5
20-44591324-T-C ZNF335 c.1534-503A>G - IntronicSNV - 9/27
1-205801872-A-G PM20D1 c.1139T>C p.Ile380Thr Missense 11/13 -
3-23541057-A-G UBE2E2 c.228-42A>G - IntronicSNV - 3/5
11-876755-T-C CHID1 c.960-6256A>G - IntronicSNV - 10/12
8-633684-A-C ERICH1 c.304+8794T>G - IntronicSNV - 3/5
8-633684-A-G ERICH1 c.304+8794T>C - IntronicSNV - 3/5
1-151174772-A-G PIP5K1A c.85+3215A>G - IntronicSNV - 1/14
18-77473127-C-T CTDP1 c.1019C>T p.Thr340Met Missense 7/13 -
1-205045087-G-A CNTN2 c.*2194G>A - 3-UTRSNV 23/23 -
6-32408735-A-C HLA-DRA c.82+926A>C - IntronicSNV - 1/4
9-123374639-T-C MEGF9 c.1087+35A>G - IntronicSNV - 4/5
17-44213712-G-A KANSL1 c.1289+34509C>T - IntronicSNV - 2/14
16-67977382-T-C LCAT c.155-267A>G - IntronicSNV - 1/5
17-6511781-A-G KIAA0753 c.1716T>C p.Ala572Ala Synonymous 10/19 -
9-130705120-C-T FAM102A c.*351G>A - 3-UTRSNV 11/11 -
7-12433195-T-C VWDE c.243+25A>G - IntronicSNV - 2/28
2-219498759-T-G PLCD4 c.1607-69T>G - IntronicSNV - 11/15
17-30321567-T-G SUZ12 c.1438-16T>G - IntronicSNV - 12/15
17-30321567-T-C SUZ12 c.1438-16T>C - IntronicSNV - 12/15
4-57838583-G-T NOA1 c.1515+731C>A - IntronicSNV - 3/6
1-109397229-C-A AKNAD1 c.1-1943G>T - IntronicSNV - 1/15
3-158428642-G-A RARRES1 c.420C>T p.Thr140Thr Synonymous 3/4 -
2-113993344-A-C PAX8 c.899-185T>G - IntronicSNV - 8/11
4-76877402-G-A SDAD1 c.1855-113C>T - IntronicSNV - 20/21
16-68721470-T-C CDH3 c.1626T>C p.Asn542Asn Synonymous 12/16 -
6-32156908-G-A PBX2 c.222-335C>T - IntronicSNV - 1/8
17-7122624-G-A DLG4 c.1-456C>T - 5-UTRSNV 1/22 -
17-41245237-A-G BRCA1 c.2311T>C p.Leu771Leu Synonymous 10/23 -
X-106467752-T-C PIH1D3 c.429+1681T>C - IntronicSNV - 5/6
2-37880588-A-C CDC42EP3 c.1-6858T>G - IntronicSNV - 1/1
2-37880588-A-T CDC42EP3 c.1-6858T>A - IntronicSNV - 1/1
8-73796190-A-T KCNB2 c.580-51980A>T - IntronicSNV - 2/2
8-73796190-A-G KCNB2 c.580-51980A>G - IntronicSNV - 2/2
9-136135552-G-A ABO c.156-282C>T - IntronicSNV - 3/7
1-111726869-G-A CEPT1 c.1188G>A p.Ala396Ala Synonymous 9/9 -
6-31128552-A-C TCF19 c.239-672A>C - IntronicSNV - 2/3
1-26607726-T-G SH3BGRL3 c.*112T>G - 3-UTRSNV 3/3 -
6-30042349-G-A RNF39 c.567+651C>T - IntronicSNV - 1/4
7-100017454-G-A ZCWPW1 c.81C>T p.Tyr27Tyr Synonymous 4/18 -
7-1010494-T-C COX19 c.195-1402A>G - IntronicSNV - 2/2
4-91514884-C-T CCSER1 c.1725-34292C>T - IntronicSNV - 5/10
11-74624011-C-A XRRA1 c.633-5693G>T - IntronicSNV - 8/18
6-31864304-G-C EHMT2 c.329-11C>G - IntronicSNV - 3/27
6-31864304-G-A EHMT2 c.329-11C>T - IntronicSNV - 3/27
4-91514884-C-G CCSER1 c.1725-34292C>G - IntronicSNV - 5/10
8-135506073-T-C ZFAT c.3457-15109A>G - IntronicSNV - 16/16
1-231489353-G-T SPRTN c.*246G>T - 3-UTRSNV 5/5 -
6-62415147-C-T KHDRBS2 c.894-7989G>A - IntronicSNV - 7/8
6-62415147-C-A KHDRBS2 c.894-7989G>T - IntronicSNV - 7/8
9-71034203-C-G PGM5 c.1043+26814C>G - IntronicSNV - 6/10
1-231489353-G-A SPRTN c.*246G>A - 3-UTRSNV 5/5 -
9-71034203-C-T PGM5 c.1043+26814C>T - IntronicSNV - 6/10
19-37964700-G-A ZNF570 c.34-2083G>A - IntronicSNV - 2/4
17-7347042-A-C FGF11 c.*577A>C - 3-UTRSNV 5/5 -
17-30380381-A-G LRRC37B c.*34A>G - 3-UTRSNV 12/12 -
3-171524190-C-A PLD1 c.-32+3999G>T - intron_variant - 1/26
1-227753072-T-C ZNF678 c.30+1647T>C - IntronicSNV - 1/3
19-37881556-T-C ZNF527 c.*775T>C - 3-UTRSNV 5/5 -
6-30031091-T-C ZNRD1 c.356+981T>C - IntronicSNV - 4/4
2-109890276-T-C SH3RF3 c.574-73854T>C - IntronicSNV - 1/9
17-7162451-G-T ELP5 c.836+206G>T - IntronicSNV - 8/8
17-7162451-G-A ELP5 c.836+206G>A - IntronicSNV - 8/8
13-95272552-T-C GPR180 c.737-780T>C - IntronicSNV - 5/8
X-117819773-A-C DOCK11 c.*3A>C - 3-UTRSNV 53/53 -
8-48362889-A-G SPIDR c.1097+9785A>G - IntronicSNV - 8/19
3-15716898-C-T ANKRD28 c.2875+507G>A - IntronicSNV - 27/27
4-100060623-C-T ADH4 c.263-324G>A - IntronicSNV - 3/8
2-86335208-T-A PTCD3 c.105-265T>A - IntronicSNV - 1/23
2-86335208-T-C PTCD3 c.105-265T>C - IntronicSNV - 1/23
6-116355188-C-T FRK c.344+25943G>A - IntronicSNV - 1/7
17-30326827-C-T SUZ12 c.*805C>T - 3-UTRSNV 16/16 -
15-40910668-C-G KNL1 c.323-489C>G - IntronicSNV - 8/25
6-33055605-G-A HLA-DPB1 c.*1294G>A - 3_prime_UTR_variant 6/6 -
6-31379115-G-C MICA c.592G>C p.Gly198Arg Missense 3/6 -
17-40714804-C-A COASY c.164C>A p.Ser55Tyr Missense 1/9 -
2-198881668-G-A PLCL1 c.241-66814G>A - IntronicSNV - 1/5
7-100081944-G-A NYAP1 c.-85+320G>A - intron_variant - 1/6
6-27835272-T-C HIST1H1B c.36A>G p.Pro12Pro Synonymous 1/1 -
16-89448663-G-A ANKRD11 c.-60+36029C>T - intron_variant - 2/12
2-202122995-A-G CASP8 c.1-8215A>G - IntronicSNV - 2/9
7-158710879-G-A WDR60 c.1792-552G>A - IntronicSNV - 14/24
3-15716898-C-G ANKRD28 c.2875+507G>C - IntronicSNV - 27/27
4-91515710-G-T CCSER1 c.1725-33466G>T - IntronicSNV - 5/10
7-2752487-G-T AMZ1 c.1472G>T p.Arg491Leu Missense 7/7 -
12-133384864-G-A GOLGA3 c.791C>T p.Pro264Leu Missense 5/24 -
17-10080030-T-A GAS7 c.183+21495A>T - IntronicSNV - 1/13
3-125787632-G-A SLC41A3 c.1-570C>T - IntronicSNV - 1/10
7-1887362-G-A MAD1L1 c.1999-31498C>T - IntronicSNV - 18/18
6-29645038-C-A ZFP57 c.1-258G>T - IntergenicSNV 2/5 -
6-29645038-C-T ZFP57 c.1-258G>A - IntergenicSNV 2/5 -
4-87728676-A-C PTPN13 c.6689-37A>C - IntronicSNV - 43/46
6-169048303-G-C SMOC2 c.908-3058G>C - IntronicSNV - 9/12
6-169048303-G-A SMOC2 c.908-3058G>A - IntronicSNV - 9/12
10-104814162-T-C CNNM2 c.1842T>C p.Ser614Ser Synonymous 3/8 -
15-40910668-C-T KNL1 c.323-489C>T - IntronicSNV - 8/25
17-6493198-T-C KIAA0753 c.2687A>G p.Gln896Arg Missense 18/19 -
17-28592047-C-T BLMH c.1216+1856G>A - IntronicSNV - 11/11
6-33054721-C-T HLA-DPB1 c.*410C>T - 3_prime_UTR_variant 6/6 -
18-77443046-C-T CTDP1 c.314+2785C>T - IntronicSNV - 1/12
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
13-43987259-T-C ENOX1 c.1-209A>G - IntronicSNV 3/17 -
17-17623988-G-A RAI1 c.-148-3354G>A - intron_variant - 1/5
18-77794810-G-A RBFA c.158+157G>A - IntronicSNV - 1/6
1-153634058-G-T SNAPIN c.*281G>T - 3-UTRSNV 4/4 -
1-153634058-G-A SNAPIN c.*281G>A - 3-UTRSNV 4/4 -
8-144396396-T-C TOP1MT c.1553+1501A>G - IntronicSNV - 12/13
2-73716810-G-A ALMS1 c.7727G>A - missense_variant 10/23 -
2-73716810-G-C ALMS1 c.7727G>C - missense_variant 10/23 -
16-4934549-G-C PPL c.4107C>G p.Ser1369Arg Missense 22/22 -
16-4934549-G-A PPL c.4107C>T p.Ser1369Ser Synonymous 22/22 -
4-100055739-G-A ADH4 c.582+1878C>T - IntronicSNV - 5/8
6-31092308-A-G PSORS1C1 c.1-5102A>G - IntronicSNV - 1/5
1-150815411-G-A ARNT c.228-3281C>T - IntronicSNV - 4/20
1-150815411-G-T ARNT c.228-3281C>A - IntronicSNV - 4/20
17-44061278-C-T MAPT c.1108C>T p.Arg370Trp Missense 6/14 -
3-125740393-C-T SLC41A3 c.745+1236G>A - IntronicSNV - 6/10
7-1968953-T-C MAD1L1 c.1807+7370A>G - IntronicSNV - 17/18
6-32134510-G-A EGFL8 c.257G>A p.Arg86Lys Missense 4/9 -
8-144413416-G-T TOP1MT c.216C>A p.Asp72Glu Missense 2/14 -
10-94415078-A-C KIF11 c.*1525A>C - 3-UTRSNV 22/22 -
6-32059867-A-G TNXB c.2359-2711T>C - IntronicSNV - 4/43
11-118504742-T-C PHLDB1 c.2380-1369T>C - IntronicSNV - 10/23
1-26527255-G-A CATSPER4 c.988-66G>A - IntronicSNV - 7/9
8-145581557-G-A FBXL6 c.417-111C>T - IntronicSNV - 1/8
6-31556581-T-A LST1 c.*128T>A - 3-UTRSNV 3/3 -
6-33055346-T-G HLA-DPB1 c.*1035T>G - 3_prime_UTR_variant 6/6 -
1-45139252-A-C TMEM53 c.61+751T>G - IntronicSNV - 1/2
5-77784738-A-G LHFPL2 c.669T>C p.Asn223Asn Synonymous 5/5 -
1-150527354-G-A ADAMTSL4 c.1234+411G>A - IntronicSNV - 7/18
16-456416-T-C DECR2 c.201+19T>C - IntronicSNV - 3/8
16-456416-T-G DECR2 c.201+19T>G - IntronicSNV - 3/8
7-1976556-G-A MAD1L1 c.1597-23C>T - IntronicSNV - 16/18
6-31472720-G-T MICB c.71-674G>T - IntronicSNV - 1/5
15-40914772-C-T KNL1 c.2310C>T p.Val770Val Synonymous 10/26 -
20-42741977-C-T JPH2 c.*1459G>A - 3-UTRSNV 6/6 -
3-97188583-T-C EPHA6 c.1895-5613T>C - IntronicSNV - 7/17
3-195477791-G-A MUC4 c.15840C>T p.Ile5280Ile Synonymous 23/25 -
11-14669802-C-A PDE3B c.978+3203C>A - IntronicSNV - 1/15
17-44165803-T-C KANSL1 c.1432-5895A>G - IntronicSNV - 3/14
6-30652781-C-G PPP1R18 c.1015G>C p.Gly339Arg Missense 1/3 -
17-35675013-A-G ACACA c.227+12100T>C - IntronicSNV - 3/55
6-26372786-A-G BTN3A2 c.716-339A>G - IntronicSNV - 3/8
17-43923683-A-G SPPL2C c.1411A>G p.Ile471Val Missense 1/1 -
10-1126293-T-C WDR37 c.332-59T>C - IntronicSNV - 4/13
2-219555262-G-A STK36 c.1748G>A p.Arg583Gln Missense 14/27 -
2-219555262-G-T STK36 c.1748G>T p.Arg583Leu Missense 14/27 -
11-55136219-C-T OR4A15 c.860C>T p.Ala287Val Missense 1/1 -
4-100045616-C-T ADH4 c.1120G>A p.Val374Ile Missense 9/9 -
2-166898249-T-C SCN1A c.2144-270A>G - IntronicSNV - 15/28
12-49318800-G-A FKBP11 c.195+29C>T - IntronicSNV - 2/5
6-31113842-A-G CCHCR1 c.1314-257T>C - IntronicSNV - 10/17
9-140610042-T-C EHMT1 c.86-1036T>C - IntronicSNV - 2/26
10-104634107-A-G AS3MT c.459-242A>G - IntronicSNV - 5/10
17-41326087-T-G NBR1 c.1-1730T>G - IntronicSNV - 1/20
4-100060513-C-T ADH4 c.263-214G>A - IntronicSNV - 3/8
12-133418069-C-T CHFR c.*71G>A - 3-UTRSNV 18/18 -
2-219432995-C-A USP37 c.-324G>T - 5_prime_UTR_variant 1/26 -
17-44800046-G-A NSF c.1762-3869G>A - IntronicSNV - 15/20
2-219103580-A-T ARPC2 c.455+7A>T - IntronicSNV - 5/9
2-219103580-A-G ARPC2 c.455+7A>G - IntronicSNV - 5/9
9-123453281-T-C MEGF9 c.601+22755A>G - IntronicSNV - 1/5
10-94382950-T-C KIF11 c.1217+1720T>C - IntronicSNV - 10/21
12-133423695-A-G CHFR c.1705T>C p.Leu569Leu Synonymous 15/18 -
12-133423695-A-T CHFR c.1705T>A p.Leu569Met Missense 15/18 -
X-117865893-T-G IL13RA1 c.88+4204T>G - IntronicSNV - 1/10
1-150808889-C-G ARNT c.522G>C p.Val174Val Synonymous 6/21 -
2-236896521-G-A AGAP1 c.1486+19254G>A - IntronicSNV - 12/16
8-141526231-C-G CHRAC1 c.*885C>G - 3-UTRSNV 3/3 -
8-141526231-C-T CHRAC1 c.*885C>T - 3-UTRSNV 3/3 -
17-35694047-C-A ACACA c.-27+2717G>T - intron_variant - 2/55
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
19-44511589-A-G ZNF230 c.15+344A>G - IntronicSNV - 2/4
12-112244413-C-T ALDH2 c.1521+2636C>T - IntronicSNV - 12/12
7-141490238-G-T TAS2R5 c.77G>T p.Ser26Ile Missense 1/1 -
7-141490238-G-A TAS2R5 c.77G>A p.Ser26Asn Missense 1/1 -
4-509850-T-C PIGG c.990T>C p.Ser330Ser Synonymous 6/13 -
2-234666461-T-G UGT1A4 c.868-9219T>G - IntronicSNV - 1/4
8-48423371-A-G SPIDR c.1097+70267A>G - IntronicSNV - 8/19
17-43924200-C-T SPPL2C c.1928C>T p.Pro643Leu Missense 1/1 -
17-39983808-G-C NT5C3B c.638C>G p.Ser213Cys Missense 8/9 -
5-140529711-C-T PCDHB6 c.1-128C>T - IntergenicSNV 1/1 -
3-97191339-C-T EPHA6 c.1895-2857C>T - IntronicSNV - 7/17
11-74673270-A-G SPCS2 c.115-2809A>G - IntronicSNV - 1/4
10-94414263-A-C KIF11 c.*710A>C - 3-UTRSNV 22/22 -
5-170328399-A-T RANBP17 c.489+5280A>T - IntronicSNV - 5/27
19-9878695-T-C ZNF846 c.-86+270A>G - intron_variant - 1/5
4-141388317-C-G MGAT4D c.573-2154G>C - IntronicSNV - 5/10
17-61755974-G-A MAP3K3 c.503-3152G>A - IntronicSNV - 6/15
1-76213024-T-C ACADM c.708+1425T>C - IntronicSNV - 8/11
6-31098832-G-A PSORS1C1 c.13+1410G>A - IntronicSNV - 3/5
6-31098832-G-C PSORS1C1 c.13+1410G>C - IntronicSNV - 3/5
10-104855656-T-C NT5C2 c.813+40A>G - IntronicSNV - 12/18
2-120122340-T-C C2orf76 c.-216+1593A>G - intron_variant - 1/6
5-140581510-G-T PCDHB11 c.2163G>T p.Ser721Ser Synonymous 1/1 -
5-140581510-G-A PCDHB11 c.2163G>A p.Ser721Ser Synonymous 1/1 -
5-140581510-G-C PCDHB11 c.2163G>C p.Ser721Ser Synonymous 1/1 -
6-26369549-C-T BTN3A2 c.433+409C>T - IntronicSNV - 2/8
8-48423371-A-T SPIDR c.1097+70267A>T - IntronicSNV - 8/19
1-153612133-G-A CHTOP c.219+1209G>A - IntronicSNV - 3/5
9-123809890-C-T C5 c.66-1229G>A - IntronicSNV - 1/40
17-78091405-G-A GAA c.2338G>A p.Val780Ile Missense 17/20 -
3-41822054-T-G ULK4 c.2193+9099A>C - IntronicSNV - 21/36
11-47539697-T-C CELF1 c.1-29131A>G - IntronicSNV - 1/13
22-30819629-T-C SEC14L2 c.*1233T>C - 3-UTRSNV 12/12 -
18-44674094-C-T HDHD2 c.-11+2655G>A - intron_variant - 1/6
13-44030966-A-G ENOX1 c.-75+27179T>C - intron_variant - 3/16
13-44030966-A-C ENOX1 c.-75+27179T>G - intron_variant - 3/16
13-52530989-T-C ATP7B c.2447+663A>G - IntronicSNV - 9/20
3-15800740-C-T ANKRD28 c.190+7001G>A - IntronicSNV - 3/27
2-171920785-C-T TLK1 c.331-3119G>A - IntronicSNV - 3/20
12-9099533-T-C M6PR c.1-533A>G - IntronicSNV - 1/4
10-134987146-G-A KNDC1 c.360+5330G>A - IntronicSNV - 3/29
17-20136216-T-C SPECC1 c.2351+498T>C - IntronicSNV - 7/7
7-75628101-C-A STYXL1 c.810+2107G>T - IntronicSNV - 8/8
1-150679358-C-A HORMAD1 c.548-73G>T - IntronicSNV - 9/14
6-150210681-G-C RAET1E c.425C>G p.Thr142Ser Missense 3/4 -
6-150210681-G-A RAET1E c.425C>T p.Thr142Ile Missense 3/4 -
6-31848220-T-G EHMT2 c.3453-179A>C - IntronicSNV - 27/27
2-113985170-C-T PAX8 c.1088-337G>A - IntronicSNV - 9/11
6-30039240-G-T RNF39 c.911C>A p.Ala304Glu Missense 4/5 -
4-140909793-C-T MAML3 c.469-97672G>A - IntronicSNV - 1/4
4-140909793-C-A MAML3 c.469-97672G>T - IntronicSNV - 1/4
13-114817261-A-G RASA3 c.277+266T>C - IntronicSNV - 3/23
2-3677022-T-C COLEC11 c.203-8101T>C - IntronicSNV - 3/6
2-3677022-T-A COLEC11 c.203-8101T>A - IntronicSNV - 3/6
18-77697110-T-C PQLC1 c.338-3088A>G - IntronicSNV - 3/5
7-1984122-A-G MAD1L1 c.1597-7589T>C - IntronicSNV - 16/18
2-24509370-T-C ITSN2 c.1724-150A>G - IntronicSNV - 15/39
10-88520409-A-G BMPR1A c.-268+3733A>G - intron_variant - 1/12
22-23587894-C-T BCR c.1280-8092C>T - IntronicSNV - 1/22
8-48515523-T-G SPIDR c.1544+3765T>G - IntronicSNV - 10/19
6-30857894-G-A DDR1 c.417+687G>A - IntronicSNV - 3/16
17-41180772-C-T RND2 c.*75C>T - 3-UTRSNV 5/5 -
4-76878956-G-A SDAD1 c.1578+44C>T - IntronicSNV - 18/21
11-117737359-A-G FXYD6-FXYD2 c.-6+9948T>C - intron_variant - 1/10
3-129275206-C-T PLXND1 c.5727G>A p.Gln1909Gln Synonymous 36/36 -
8-38845716-A-G HTRA4 c.*99A>G - 3-UTRSNV 9/9 -
9-136536633-G-C SARDH c.2326+24C>G - IntronicSNV - 18/20
22-23587894-C-G BCR c.1280-8092C>G - IntronicSNV - 1/22
17-41180772-C-G RND2 c.*75C>G - 3-UTRSNV 5/5 -
16-9910348-A-G GRIN2A c.2168+5773T>C - IntronicSNV - 11/13
10-73600155-G-A PSAP c.41-5893C>T - IntronicSNV - 1/13
19-37864682-T-G ZNF527 c.1-419T>G - IntronicSNV - 1/4
4-169500402-G-A PALLD c.908+66839G>A - IntronicSNV - 2/20
10-1139183-A-G WDR37 c.605-209A>G - IntronicSNV - 7/13
6-31122482-G-A CCHCR1 c.325C>T p.Arg109Trp Missense 4/18 -
15-85331269-G-A ZNF592 c.2221-2667G>A - IntronicSNV - 4/10
19-10678842-T-C CDKN2D c.141+347A>G - IntronicSNV - 2/2
11-858424-C-T TSPAN4 c.64-4126C>T - IntronicSNV - 3/8
6-31475486-C-T MICB c.1024+178C>T - IntronicSNV - 5/5
1-150916657-C-T SETDB1 c.949+188C>T - IntronicSNV - 8/21
15-78843051-C-T PSMA4 c.*1765C>T - IntergenicSNV 9/9 -
4-100055825-G-A ADH4 c.582+1792C>T - IntronicSNV - 5/8
17-80830760-G-C TBCD c.1475+2504G>C - IntronicSNV - 14/38
17-80830760-G-T TBCD c.1475+2504G>T - IntronicSNV - 14/38
1-85716807-G-A C1orf52 c.*1505C>T - 3-UTRSNV 3/3 -
6-163673166-A-G PACRG c.614-60645A>G - IntronicSNV - 5/6
6-163673166-A-T PACRG c.614-60645A>T - IntronicSNV - 5/6
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
6-26463660-G-A BTN2A1 c.619G>A p.Val207Met Missense 4/8 -
6-32138545-A-T AGPAT1 c.335-168T>A - IntronicSNV - 3/6
14-90743973-G-A NRDE2 c.*707C>T - IntergenicSNV 14/14 -
11-35201810-T-C CD44 c.234-11T>C - IntronicSNV - 2/17
11-77850517-C-A ALG8 c.95+23G>T - IntronicSNV - 1/12
11-108420006-T-C EXPH5 c.120-7467A>G - IntronicSNV - 1/5
17-41197274-C-A BRCA1 c.*421G>T - 3-UTRSNV 23/23 -
11-126138453-C-G SRPRA c.117+130G>C - IntronicSNV - 1/13
11-126138453-C-T SRPRA c.117+130G>A - IntronicSNV - 1/13
2-169662024-A-G NOSTRIN c.-122+2841A>G - intron_variant - 1/14
15-74275676-A-G STOML1 c.*602T>C - 3-UTRSNV 7/7 -
10-104574422-A-G WBP1L c.*1334A>G - 3-UTRSNV 4/4 -
22-39482023-C-A APOBEC3G c.736-261C>A - IntronicSNV - 5/7
7-47437150-C-T TNS3 c.920-649G>A - IntronicSNV - 15/30
19-10676441-G-A KRI1 c.138C>T p.Asp46Asp Synonymous 2/19 -
4-141468569-C-T ELMOD2 c.737-2815C>T - IntronicSNV - 8/8
7-44112873-G-C POLM c.*17C>G - 3-UTRSNV 11/11 -
7-44112873-G-T POLM c.*17C>A - 3-UTRSNV 11/11 -
17-4884332-G-A CAMTA2 c.700+188C>T - IntronicSNV - 8/22
X-153701716-A-G PLXNA3 c.*688A>G - 3-UTRSNV 33/33 -
10-94290484-A-C IDE c.661+1021T>G - IntronicSNV - 4/24
3-158390540-A-G GFM1 c.1601+6365A>G - IntronicSNV - 13/17
3-158390540-A-T GFM1 c.1601+6365A>T - IntronicSNV - 13/17
1-150729983-G-A CTSS c.249+351C>T - IntronicSNV - 3/7
1-150729983-G-T CTSS c.249+351C>A - IntronicSNV - 3/7
6-32161396-T-A GPSM3 c.-101-495A>T - intron_variant - 3/7
6-32161396-T-G GPSM3 c.-101-495A>C - intron_variant - 3/7
6-33053877-G-C HLA-DPB1 c.758-119G>C - IntronicSNV - 4/5
17-44249199-T-G KANSL1 c.311A>C p.Lys104Thr Missense 2/15 -
7-95755635-A-G SLC25A13 c.1592-4326T>C - IntronicSNV - 15/17
22-50647969-C-T SELENOO c.940-641C>T - IntronicSNV - 3/8
6-32096001-C-A ATF6B c.1-17G>T - 5-UTRSNV 1/18 -
6-32096001-C-G ATF6B c.1-17G>C - 5-UTRSNV 1/18 -
17-44859144-C-T WNT3 c.81-7869G>A - IntronicSNV - 1/4
8-48322002-T-A SPIDR c.877+1479T>A - IntronicSNV - 7/19
6-33172932-G-C HSD17B8 c.270+36G>C - IntronicSNV - 2/8
17-80804086-A-G TBCD c.1319-24014A>G - IntronicSNV - 13/38
3-129218944-G-T IFT122 c.2198+33G>T - IntronicSNV - 18/28
10-104851396-G-T NT5C2 c.1160-24C>A - IntronicSNV - 15/18
19-37907792-T-C ZNF569 c.239-2471A>G - IntronicSNV - 5/5
1-155870416-G-A RIT1 c.430-7C>T - IntronicSNV - 5/5
6-33056902-G-C HLA-DPB1 c.*2887G>C - 3-UTRSNV 6/6 -
6-30030135-G-A ZNRD1 c.356+25G>A - IntronicSNV - 4/4
2-225335595-A-G CUL3 c.*3367T>C - 3-UTRSNV 15/15 -
8-144379934-C-T ZNF696 c.*964C>T - 3-UTRSNV 3/3 -
1-26627478-T-C UBXN11 c.100+707A>G - IntronicSNV - 4/14
5-115325279-T-C LVRN c.1105+1643T>C - IntronicSNV - 4/19
5-170364988-G-A RANBP17 c.1468+13434G>A - IntronicSNV - 12/27
7-99691740-G-A MCM7 c.1320+56C>T - IntronicSNV - 12/13
1-150799755-C-T ARNT c.1123-662G>A - IntronicSNV - 11/20
21-33956362-T-C TCP10L c.144+109A>G - IntronicSNV - 2/4
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
2-108916044-A-G SULT1C2 c.372+927A>G - IntronicSNV - 4/8
15-86288387-C-T AKAP13 c.*479C>T - 3-UTRSNV 37/37 -
17-41329847-G-A NBR1 c.103-106G>A - IntronicSNV - 2/20
19-37428465-T-G ZNF568 c.358+321T>G - IntronicSNV - 6/6
6-30153363-G-A TRIM26 c.*290C>T - 3-UTRSNV 10/10 -
13-111308862-G-A CARS2 c.988-5415C>T - IntronicSNV - 9/14
2-204301296-G-A ABI2 c.*9221G>A - IntergenicSNV 10/10 -
6-31085200-A-G CDSN c.192T>C p.Gly64Gly Synonymous 2/2 -
15-78841220-T-C PSMA4 c.720T>C p.His240His Synonymous 9/9 -
1-76331320-T-C MSH4 c.1231-1879T>C - IntronicSNV - 8/19
7-43700346-T-G COA1 c.1-12133A>C - IntronicSNV - 1/5
7-141463914-T-C TAS2R3 c.1-45T>C - 5-UTRSNV 1/1 -
6-32165444-A-G NOTCH4 c.4757-73T>C - IntronicSNV - 26/29
8-99114970-A-C RIDA c.*100T>G - 3-UTRSNV 6/6 -
17-66244578-T-C AMZ2 c.-269T>C - 5_prime_UTR_variant 1/7 -
6-30165662-G-A TRIM26 c.534+544C>T - IntronicSNV - 5/9
16-4506232-G-A DNAJA3 c.*663G>A - 3-UTRSNV 11/11 -
3-48312229-A-T ZNF589 c.*1953A>T - 3-UTRSNV 4/4 -
3-48312229-A-C ZNF589 c.*1953A>C - 3-UTRSNV 4/4 -
3-48312229-A-G ZNF589 c.*1953A>G - 3-UTRSNV 4/4 -
10-124234320-G-A HTRA1 c.472+12680G>A - IntronicSNV - 1/8
16-87999571-A-C BANP c.1-9151A>C - IntronicSNV - 1/11
16-87999571-A-G BANP c.1-9151A>G - IntronicSNV - 1/11
6-32140487-T-C AGPAT1 c.1-1214A>G - IntronicSNV - 1/6
7-75685593-G-T MDH2 c.236-1135G>T - IntronicSNV - 2/8
12-88888215-T-C KITLG c.*2781A>G - 3_prime_UTR_variant 9/9 -
10-104740568-C-A CNNM2 c.1621+60710C>A - IntronicSNV - 1/7
6-31540556-T-C LTA c.37T>C p.Cys13Arg Missense 2/4 -
9-71033538-T-C PGM5 c.1043+26149T>C - IntronicSNV - 6/10
12-88943596-C-T KITLG c.16-3954G>A - IntronicSNV - 1/8
7-150438558-G-T GIMAP1-GIMAP5 c.655+543G>T - IntronicSNV - 5/5
13-44053468-C-A ENOX1 c.-75+4677G>T - intron_variant - 3/16
1-198224252-G-A NEK7 c.198+1942G>A - IntronicSNV - 3/9
12-88943596-C-A KITLG c.16-3954G>T - IntronicSNV - 1/8
7-1887362-G-C MAD1L1 c.1999-31498C>G - IntronicSNV - 18/18
13-44446161-G-C CCDC122 c.1-2649C>G - IntronicSNV - 2/6
3-41965532-G-A ULK4 c.542-4222C>T - IntronicSNV - 5/36
5-74442964-T-C ANKRD31 c.2272A>G p.Arg758Gly Missense 14/25 -
2-86348960-G-A PTCD3 c.654+243G>A - IntronicSNV - 8/23
6-31474280-G-A MICB c.613+73G>A - IntronicSNV - 3/5
12-88958350-C-T KITLG c.15+15691G>A - IntronicSNV - 1/8
17-20023099-G-A SPECC1 c.283+9224G>A - IntronicSNV - 3/7
3-69370396-C-G FRMD4B c.163-7728G>C - IntronicSNV - 1/22
11-14747427-C-A PDE3B c.979-46056C>A - IntronicSNV - 1/15
6-31721033-G-A MSH5 c.813-45G>A - IntronicSNV - 10/24
10-104787019-C-A CNNM2 c.1622-22445C>A - IntronicSNV - 1/7
6-33053942-T-C HLA-DPB1 c.758-54T>C - IntronicSNV - 4/5
7-1521875-T-C INTS1 c.3703+307A>G - IntronicSNV - 27/47
20-33734493-G-A EDEM2 c.218+135C>T - IntronicSNV - 2/10
6-116262976-G-A FRK c.*601C>T - 3-UTRSNV 8/8 -
1-237006914-A-G MTR c.1515+5015A>G - IntronicSNV - 15/32
4-100048414-T-C ADH4 c.925A>G p.Ile309Val Missense 7/9 -
7-44114251-G-A POLM c.836-122C>T - IntronicSNV - 6/10
5-77803267-A-C LHFPL2 c.430+2340T>G - IntronicSNV - 4/4
11-55322099-C-T OR4C15 c.155C>T - missense_variant 1/1 -
7-1987092-T-C MAD1L1 c.1596+10172A>G - IntronicSNV - 16/18
12-31240334-C-T DDX11 c.639-538C>T - IntronicSNV - 5/26
12-31240334-C-G DDX11 c.639-538C>G - IntronicSNV - 5/26
17-80751311-A-G TBCD c.772-4322A>G - IntronicSNV - 7/38
7-1886937-C-G MAD1L1 c.1999-31073G>C - IntronicSNV - 18/18
1-145517561-C-T PEX11B c.172+173C>T - IntronicSNV - 2/3
X-106319219-C-T RBM41 c.928-6587G>A - IntronicSNV - 5/6
6-32411035-A-C HLA-DRA c.402A>C p.Ile134Ile Synonymous 3/5 -
1-150679358-C-T HORMAD1 c.548-73G>A - IntronicSNV - 9/14
16-68790394-G-A CDH1 c.163+18080G>A - IntronicSNV - 2/15
1-151193897-A-G PIP5K1A c.86-2827A>G - IntronicSNV - 1/14
8-48559397-C-T SPIDR c.1545-26966C>T - IntronicSNV - 10/19
9-140682841-C-T EHMT1 c.2383-2459C>T - IntronicSNV - 15/26
13-44446161-G-A CCDC122 c.1-2649C>T - IntronicSNV - 2/6
6-36779537-T-C CPNE5 c.183+10353A>G - IntronicSNV - 3/20
1-153613545-G-A CHTOP c.220-1177G>A - IntronicSNV - 3/5
1-26570009-G-A CEP85 c.56-648G>A - IntronicSNV - 2/13
4-166365138-C-T CPE c.308-20404C>T - IntronicSNV - 1/8
7-44092723-G-T DBNL c.327+183G>T - IntronicSNV - 4/12
3-52720080-A-C GNL3 c.1-29A>C - 5-UTRSNV 1/15 -
4-91516422-C-G CCSER1 c.1725-32754C>G - IntronicSNV - 5/10
16-4938280-T-C PPL c.2398-61A>G - IntronicSNV - 19/21
7-64292695-G-A ZNF138 c.*115G>A - 3-UTRSNV 3/3 -
6-32172993-C-T NOTCH4 c.2866-827G>A - IntronicSNV - 18/29
17-78079837-A-G GAA c.692+144A>G - IntronicSNV - 3/19
7-2115215-A-G MAD1L1 c.1074-6242T>C - IntronicSNV - 11/18
4-120238780-A-C FABP2 c.*1416T>G - 3-UTRSNV 4/4 -
1-153613545-G-C CHTOP c.220-1177G>C - IntronicSNV - 3/5
19-33169003-A-C RGS9BP c.*1126A>C - 3-UTRSNV 1/1 -
9-139878828-T-C LCNL1 c.123-114T>C - IntronicSNV - 1/2
6-126081319-G-C HEY2 c.*371G>C - 3-UTRSNV 5/5 -
3-52720080-A-T GNL3 c.1-29A>T - 5-UTRSNV 1/15 -
3-52720080-A-G GNL3 c.1-29A>G - 5-UTRSNV 1/15 -
5-1051687-T-C SLC12A7 c.*788A>G - 3-UTRSNV 24/24 -
6-31725285-A-G MSH5 c.1015-657A>G - IntronicSNV - 12/24
12-110430968-A-G GIT2 c.53-1403T>C - IntronicSNV - 1/19
17-14111915-C-T COX10 c.*1385C>T - 3-UTRSNV 7/7 -
9-140661826-T-G EHMT1 c.1647+4554T>G - IntronicSNV - 10/26
6-137161671-C-G PEX7 c.340-5082C>G - IntronicSNV - 3/9
6-137161671-C-T PEX7 c.340-5082C>T - IntronicSNV - 3/9
15-40886621-T-C KNL1 c.-18+31T>C - intron_variant - 1/25
19-40363020-G-C FCGBP c.15050C>G p.Ala5017Gly Missense 32/36 -
6-33051910-C-A HLA-DPB1 c.365-817C>A - IntronicSNV - 2/5
4-5228210-A-G STK32B c.260+58033A>G - IntronicSNV - 3/11
15-40914177-T-C KNL1 c.1715T>C p.Met572Thr Missense 10/26 -
7-141490107-A-G TAS2R5 c.1-55A>G - 5-UTRSNV 1/1 -
5-170364988-G-T RANBP17 c.1468+13434G>T - IntronicSNV - 12/27
6-150210802-A-G RAET1E c.347-43T>C - IntronicSNV - 2/3
6-31843924-C-T SLC44A4 c.90-18G>A - IntronicSNV - 2/19
6-26375159-A-G BTN3A2 c.*34+133A>G - intron_variant - 8/8
4-47997253-A-T CNGA1 c.-110-13736T>A - intron_variant - 2/10
2-234650604-T-C UGT1A4 c.867+22271T>C - IntronicSNV - 1/4
19-44564981-G-A ZNF223 c.222G>A p.Arg74Arg Synonymous 4/5 -
2-234672639-G-T UGT1A1 c.864+2842G>T - IntronicSNV - 1/4
1-231548480-A-G EGLN1 c.891+8264T>C - IntronicSNV - 1/4
11-8706628-G-A RPL27A c.318+189G>A - IntronicSNV - 4/4
2-191312906-T-C MFSD6 c.1532+10619T>C - IntronicSNV - 3/7
2-127842383-C-T BIN1 c.85-8101G>A - IntronicSNV - 1/18
2-86345536-A-G PTCD3 c.415-508A>G - IntronicSNV - 6/23
1-205044339-A-G CNTN2 c.*1446A>G - 3-UTRSNV 23/23 -
17-41244435-T-C BRCA1 c.3113A>G p.Glu1038Gly Missense 10/23 -
19-41930396-A-G BCKDHA c.1221A>G p.Leu407Leu Synonymous 9/9 -
3-58558769-C-G FAM107A c.-103-2619G>C - intron_variant - 1/4
19-41932084-G-A B3GNT8 c.600C>T p.Ala200Ala Synonymous 3/3 -
19-41932084-G-T B3GNT8 c.600C>A p.Ala200Ala Synonymous 3/3 -
6-33053877-G-A HLA-DPB1 c.758-119G>A - IntronicSNV - 4/5
6-33053877-G-T HLA-DPB1 c.758-119G>T - IntronicSNV - 4/5
16-4544505-C-T HMOX2 c.-42+10750C>T - intron_variant - 2/6
4-120428404-A-G PDE5A c.2189+355T>C - IntronicSNV - 16/20
5-662955-T-G TPPP c.*2262A>C - 3-UTRSNV 4/4 -
17-34052513-C-T AP2B1 c.*1795C>T - 3-UTRSNV 22/22 -
13-52539526-T-G ATP7B c.1708-357A>C - IntronicSNV - 4/20
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
10-1128216-G-A WDR37 c.396+1800G>A - IntronicSNV - 5/13
7-43664198-A-G STK17A c.1002A>G p.Glu334Glu Synonymous 7/7 -
19-36858944-A-G ZFP14 c.1-150T>C - IntronicSNV - 1/4
6-30307342-G-C TRIM39-RPP21 c.781-343G>C - IntronicSNV - 3/9
1-9300608-T-C H6PD c.1-4386T>C - IntronicSNV - 1/4
16-89185019-A-G ACSF3 c.1127-2190A>G - IntronicSNV - 6/10
13-52548140-A-T ATP7B c.1216T>A p.Ser406Thr Missense 2/21 -
1-23112369-A-C EPHB2 c.811+800A>C - IntronicSNV - 3/15
1-23112369-A-G EPHB2 c.811+800A>G - IntronicSNV - 3/15
17-41331816-C-T NBR1 c.184+387C>T - IntronicSNV - 4/20
6-32147696-G-C RNF5 c.315G>C p.Pro105Pro Synonymous 4/6 -
1-53074532-C-A GPX7 c.*435C>A - 3-UTRSNV 3/3 -
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
7-158727910-A-G WDR60 c.2778+670A>G - IntronicSNV - 23/24
2-234668570-C-T UGT1A4 c.868-7110C>T - IntronicSNV - 1/4
6-28214698-C-T ZKSCAN4 c.778+49G>A - IntronicSNV - 4/4
10-104638723-T-A AS3MT c.860T>A p.Met287Lys Missense 9/11 -
6-62402110-T-C KHDRBS2 c.952+4990A>G - IntronicSNV - 8/8
15-78894896-C-T CHRNA3 c.378-290G>A - IntronicSNV - 4/5
16-89185019-A-C ACSF3 c.1127-2190A>C - IntronicSNV - 6/10
7-100073292-A-G TSC22D4 c.763-1229T>C - IntronicSNV - 2/4
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
10-104843148-C-T CNNM2 c.*6211C>T - IntergenicSNV 8/8 -
17-14058088-C-T COX10 c.625-5106C>T - IntronicSNV - 4/6
1-26899125-C-G RPS6KA1 c.1947+341C>G - IntronicSNV - 20/21
1-26899125-C-A RPS6KA1 c.1947+341C>A - IntronicSNV - 20/21
12-112298257-A-G MAPKAPK5 c.37-4797A>G - IntronicSNV - 1/13
11-117731136-G-C FXYD6-FXYD2 c.-6+16171C>G - intron_variant - 1/10
11-14910273-T-G CYP2R1 c.226-2810A>C - IntronicSNV - 1/4
2-3660208-A-T COLEC11 c.131-693A>T - IntronicSNV - 2/6
12-123799974-A-G SBNO1 c.3063T>C p.Gly1021Gly Synonymous 23/32 -
2-3660208-A-G COLEC11 c.131-693A>G - IntronicSNV - 2/6
12-9352459-G-A PZP c.755+501C>T - IntronicSNV - 7/35
12-123799974-A-T SBNO1 c.3063T>A p.Gly1021Gly Synonymous 23/32 -
13-95236825-A-G TGDS c.314-1335T>C - IntronicSNV - 4/11
17-44108202-A-G KANSL1 c.*640T>C - 3-UTRSNV 15/15 -
6-33057176-T-C HLA-DPB1 c.*2865T>C - 3_prime_UTR_variant 6/6 -
2-234650193-T-G UGT1A4 c.867+21860T>G - IntronicSNV - 1/4
1-167522461-C-T CREG1 c.354+164G>A - IntronicSNV - 1/3
17-61728881-C-A MAP3K3 c.168-1036C>A - IntronicSNV - 3/15
11-130060217-C-T ST14 c.635-132C>T - IntronicSNV - 6/18
17-41244936-G-C BRCA1 c.2612C>G p.Pro871Arg Missense 10/23 -
1-226182455-A-G SDE2 c.238+512T>C - IntronicSNV - 2/6
6-33055773-G-A HLA-DPB1 c.*1758G>A - 3-UTRSNV 6/6 -
6-30688575-G-C TUBB c.57+235G>C - IntronicSNV - 1/3
16-68729785-C-A CDH3 c.2239C>A p.Arg747Arg Synonymous 15/16 -
3-49792023-A-G IP6K1 c.1-6550T>C - IntronicSNV - 1/5
3-49792023-A-T IP6K1 c.1-6550T>A - IntronicSNV - 1/5
17-41244936-G-T BRCA1 c.2612C>A p.Pro871Gln Missense 10/23 -
11-126162607-G-A TIRAP c.303G>A p.Gln101Gln Synonymous 5/5 -
19-37674259-G-A ZNF585B c.*1870C>T - 3-UTRSNV 5/5 -
16-68729785-C-T CDH3 c.2239C>T p.Arg747Trp Missense 15/16 -
9-130703565-A-G FAM102A c.*1906T>C - 3-UTRSNV 11/11 -
6-167710832-T-C UNC93A c.500-601T>C - IntronicSNV - 3/7
4-2952506-A-G NOP14 c.1002+335T>C - IntronicSNV - 7/18
6-31922254-A-C NELFE c.743-35T>G - IntronicSNV - 7/10
3-134280948-G-C CEP63 c.*571G>C - 3-UTRSNV 16/16 -
3-134280948-G-T CEP63 c.*571G>T - 3-UTRSNV 16/16 -
1-205767885-G-A SLC41A1 c.756C>T p.Asn252Asn Synonymous 6/11 -
1-202715284-G-A KDM5B c.2184C>T p.Tyr728Tyr Synonymous 15/27 -
10-94368178-G-A KIF11 c.388-599G>A - IntronicSNV - 4/21
1-202715284-G-C KDM5B c.2184C>G p.Tyr728* Nonsense 15/27 -
1-78392446-G-A NEXN c.733G>A p.Gly245Arg Missense 8/13 -
6-31001911-C-T MUC22 c.5056-538C>T - IntronicSNV - 4/4
1-154438880-T-C IL6R c.*1024T>C - 3-UTRSNV 10/10 -
12-88477988-T-C CEP290 c.4705-257A>G - IntronicSNV - 35/53
16-3536061-C-T NAA60 c.*1206C>T - 3-UTRSNV 7/7 -
6-166878708-A-C RPS6KA2 c.972+4621T>G - IntronicSNV - 11/20
11-74553074-C-T RNF169 c.*5299C>T - 3-UTRSNV 6/6 -
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
5-74456477-C-A ANKRD31 c.1708-6307G>T - IntronicSNV - 11/24
1-76320441-T-A MSH4 c.1230+6480T>A - IntronicSNV - 8/19
1-76320441-T-C MSH4 c.1230+6480T>C - IntronicSNV - 8/19
4-141459925-T-C ELMOD2 c.399+1230T>C - IntronicSNV - 5/8
6-30036471-C-A PPP1R11 c.174C>A p.Ser58Ser Synonymous 2/3 -
6-31725230-G-A MSH5 c.1015-712G>A - IntronicSNV - 12/24
4-10082156-C-T WDR1 c.864+825G>A - IntronicSNV - 8/11
11-133800219-C-A IGSF9B c.1520-542G>T - IntronicSNV - 11/19
17-40811781-C-T TUBG2 c.50-71C>T - IntronicSNV - 1/10
16-951045-C-T LMF1 c.664-7973G>A - IntronicSNV - 4/10
6-31129310-C-T TCF19 c.325C>T p.Pro109Ser Missense 3/4 -
9-117120680-C-T AKNA c.2493-233G>A - IntronicSNV - 11/21
9-136270996-C-T STKLD1 c.*451C>T - 3-UTRSNV 18/18 -
6-110746526-T-C SLC22A16 c.1522-238A>G - IntronicSNV - 7/7
1-156532344-T-G IQGAP3 c.877+35A>C - IntronicSNV - 9/37
4-38087105-T-C TBC1D1 c.2051-4448T>C - IntronicSNV - 12/19
5-176817143-G-A SLC34A1 c.936+1770G>A - IntronicSNV - 8/12
5-176817143-G-T SLC34A1 c.936+1770G>T - IntronicSNV - 8/12
3-49763338-T-C IP6K1 c.*1217A>G - 3-UTRSNV 6/6 -
16-52506172-A-C TOX3 c.88-3686T>G - IntronicSNV - 1/6
11-61551356-T-C MYRF c.3033T>C p.Ser1011Ser Synonymous 23/26 -
17-41244000-T-A BRCA1 c.3548A>T p.Lys1183Ile Missense 10/23 -
17-41244000-T-C BRCA1 c.3548A>G p.Lys1183Arg Missense 10/23 -
4-100060538-A-G ADH4 c.263-239T>C - IntronicSNV - 3/8
17-56686454-G-A TEX14 c.1202+2068C>T - IntronicSNV - 10/32
16-68713823-C-T CDH3 c.813C>T p.Thr271Thr Synonymous 7/16 -
1-153612053-A-G CHTOP c.219+1129A>G - IntronicSNV - 3/5
21-44318769-T-C NDUFV3 c.169+1612T>C - IntronicSNV - 2/2
14-90754538-C-G NRDE2 c.3158+23G>C - IntronicSNV - 11/13
17-44177993-C-A KANSL1 c.1290-5926G>T - IntronicSNV - 2/14
4-2950717-G-A NOP14 c.1283-582C>T - IntronicSNV - 8/18
6-30306306-A-G TRIM39-RPP21 c.781-1379A>G - IntronicSNV - 3/9
9-139879170-G-A LCNL1 c.202G>A p.Ala68Thr Missense 3/3 -
10-82344060-G-A SH2D4B c.349-4326G>A - IntronicSNV - 3/6
17-80886528-C-T TBCD c.2694-461C>T - IntronicSNV - 30/38
2-178682603-T-A PDE11A c.294A>T p.Ala98Ala Synonymous 5/17 -
7-95758692-A-C SLC25A13 c.1591+2363T>G - IntronicSNV - 15/17
1-231476789-A-G SPRTN c.321+1175A>G - IntronicSNV - 2/4
18-31328519-C-T ASXL3 c.*1960C>T - IntergenicSNV 12/12 -
6-29646165-C-T ZFP57 c.1-1385G>A - IntergenicSNV - 1/4
15-67361308-T-A SMAD3 c.206+2610T>A - IntronicSNV - 1/8
6-31085269-A-G CDSN c.123T>C p.Pro41Pro Synonymous 2/2 -
6-62547401-G-A KHDRBS2 c.810+57139C>T - IntronicSNV - 6/8
12-11061122-T-A TAS2R13 c.776A>T p.Asn259Ile Missense 1/1 -
7-1529860-C-A INTS1 c.2166-542G>T - IntronicSNV - 16/47
10-124156852-C-G PLEKHA1 c.142-582C>G - IntronicSNV - 2/11
2-234665659-T-A UGT1A4 c.868-10021T>A - IntronicSNV - 1/4
17-20026548-A-G SPECC1 c.283+12673A>G - IntronicSNV - 3/7
X-117916520-A-T IL13RA1 c.1191+6046A>T - IntronicSNV - 10/10
X-117916520-A-G IL13RA1 c.1191+6046A>G - IntronicSNV - 10/10
6-31856070-G-A EHMT2 c.1510-17C>T - IntronicSNV - 12/27
13-114834589-G-A RASA3 c.173+4606C>T - IntronicSNV - 2/23
13-44431660-A-G CCDC122 c.672+1257T>C - IntronicSNV - 6/6
3-41965234-C-T ULK4 c.542-3924G>A - IntronicSNV - 5/36
17-44828931-G-A NSF c.2106G>A p.Lys702Lys Synonymous 19/21 -
19-5618654-C-T SAFB2 c.275-2157G>A - IntronicSNV - 2/20
16-68713823-C-A CDH3 c.813C>A p.Thr271Thr Synonymous 7/16 -
6-62405686-G-A KHDRBS2 c.952+1414C>T - IntronicSNV - 8/8
6-31712196-G-A MSH5 c.647+120G>A - IntronicSNV - 7/24
17-33920036-A-C AP2B1 c.1-1014A>C - IntronicSNV - 1/21
X-44191332-G-T EFHC2 c.42+11461C>A - IntronicSNV - 1/14
X-106449643-G-T NUP62CL c.-232C>A - 5_prime_UTR_variant 1/9 -
12-110430968-A-T GIT2 c.53-1403T>A - IntronicSNV - 1/19
2-188291105-C-A CALCRL c.-293+21661G>T - intron_variant - 1/14
17-78086846-A-G GAA c.2040+20A>G - IntronicSNV - 14/19
18-31313124-G-T ASXL3 c.976+1096G>T - IntronicSNV - 9/11
6-31609813-C-T BAG6 c.2227+76G>A - IntronicSNV - 15/24
14-72695406-G-T RGS6 c.85-123397G>T - IntronicSNV - 2/17
2-86454914-C-T REEP1 c.595+4834G>A - IntronicSNV - 6/6
X-117926781-T-G IL13RA1 c.*964T>G - 3-UTRSNV 11/11 -
13-25003883-A-G PARP4 c.4846+1632T>C - IntronicSNV - 32/33
13-44431660-A-T CCDC122 c.672+1257T>A - IntronicSNV - 6/6
17-16660721-C-T CCDC144A c.3373-4018C>T - IntronicSNV - 12/17
17-43242694-G-A HEXIM2 c.66+2468G>A - IntronicSNV - 3/3
1-55465594-G-T BSND c.177+558G>T - IntronicSNV - 1/3
13-44443977-T-C CCDC122 c.1-465A>G - IntronicSNV - 2/6
5-140561768-C-T PCDHB16 c.1-367C>T - 5-UTRSNV 1/1 -
17-80788492-A-G TBCD c.1318+15682A>G - IntronicSNV - 13/38
6-30299245-T-A TRIM39-RPP21 c.549+592T>A - IntronicSNV - 2/9
6-30299245-T-G TRIM39-RPP21 c.549+592T>G - IntronicSNV - 2/9
11-65637076-T-G EFEMP2 c.727+252A>C - IntronicSNV - 7/10
11-65637076-T-A EFEMP2 c.727+252A>T - IntronicSNV - 7/10
11-65637076-T-C EFEMP2 c.727+252A>G - IntronicSNV - 7/10
1-120257576-A-G PHGDH c.138+2793A>G - IntronicSNV - 1/11
10-134359062-T-C INPP5A c.75+7387T>C - IntronicSNV - 1/15
19-40929363-T-C SERTAD1 c.91A>G p.Thr31Ala Missense 2/2 -
1-26872832-G-A RPS6KA1 c.109-526G>A - IntronicSNV - 2/21
11-108622394-G-A DDX10 c.1965+28205G>A - IntronicSNV - 13/17
4-120534734-C-T PDE5A c.153-6282G>A - IntronicSNV - 1/20
8-38840591-C-T HTRA4 c.1268+24C>T - IntronicSNV - 8/8
19-40363020-G-A FCGBP c.15050C>T p.Ala5017Val Missense 32/36 -
6-30296253-G-A TRIM39 c.-160-413G>A - intron_variant - 1/7
2-236898903-C-T AGAP1 c.1486+21636C>T - IntronicSNV - 12/16
19-37642165-G-A ZNF585A c.*326C>T - 3-UTRSNV 6/6 -
11-118520480-G-T PHLDB1 c.3655-302G>T - IntronicSNV - 19/23
3-134322742-A-G KY c.1665T>C p.Leu555Leu Synonymous 11/11 -
16-87986136-T-C BANP c.-69+1015T>C - intron_variant - 1/11
1-227920061-T-G JMJD4 c.*32A>C - 3-UTRSNV 6/6 -
1-227920061-T-A JMJD4 c.*32A>T - 3-UTRSNV 6/6 -
1-227920061-T-C JMJD4 c.*32A>G - 3-UTRSNV 6/6 -
15-100842614-T-C ADAMTS17 c.617-21008A>G - IntronicSNV - 3/21
21-30244877-T-G N6AMT1 c.*3830A>C - IntergenicSNV 6/6 -
6-31928799-T-A SKIV2L c.545-19T>A - IntronicSNV - 6/27
6-31928799-T-C SKIV2L c.545-19T>C - IntronicSNV - 6/27
8-144401846-T-G TOP1MT c.1146+1525A>C - IntronicSNV - 8/13
6-33166034-A-G RXRB c.640+51T>C - IntronicSNV - 3/9
8-144401846-T-A TOP1MT c.1146+1525A>T - IntronicSNV - 8/13
8-8241772-T-C PRAG1 c.-88+2059A>G - intron_variant - 1/5
11-14769392-G-A PDE3B c.979-24091G>A - IntronicSNV - 1/15
16-12082233-G-T SNX29 c.8-10921G>T - IntronicSNV - 1/20
16-12082233-G-A SNX29 c.8-10921G>A - IntronicSNV - 1/20
17-78885858-C-A RPTOR c.2520+3129C>A - IntronicSNV - 21/33
6-33051910-C-G HLA-DPB1 c.365-817C>G - IntronicSNV - 2/5
1-26561856-T-C CEP85 c.-23+1055T>C - intron_variant - 1/13
1-1385211-A-G ATAD3C c.1-853A>G - 5-UTRSNV 1/12 -
6-32161366-T-C GPSM3 c.-101-465A>G - intron_variant - 3/7
7-99964661-A-G PILRB c.656-311A>G - IntronicSNV - 3/3
11-61547237-C-T MYRF c.2221-77C>T - IntronicSNV - 16/25
16-4460049-A-G CORO7-PAM16 c.233-1797T>C - IntronicSNV - 3/30
7-99965285-T-C PILRB c.*285T>C - 3-UTRSNV 4/4 -
11-14861517-T-G PDE3B c.2321-3856T>G - IntronicSNV - 11/15
3-125737621-C-T SLC41A3 c.746-1903G>A - IntronicSNV - 6/10
7-40248683-A-G SUGCT c.394+14024A>G - IntronicSNV - 6/14
4-100046207-A-G ADH4 c.1119-590T>C - IntronicSNV - 8/8
3-41853161-C-T ULK4 c.1848+7754G>A - IntronicSNV - 19/36
7-1536717-T-C INTS1 c.1602+57A>G - IntronicSNV - 11/47
11-14836192-A-C PDE3B c.1523-3537A>C - IntronicSNV - 5/15
11-14836192-A-G PDE3B c.1523-3537A>G - IntronicSNV - 5/15
17-43923703-C-T SPPL2C c.1431C>T p.Thr477Thr Synonymous 1/1 -
17-41331460-G-A NBR1 c.184+31G>A - IntronicSNV - 4/20
1-200984480-G-A KIF21B c.42-5864C>T - IntronicSNV - 1/34
11-14774591-A-G PDE3B c.979-18892A>G - IntronicSNV - 1/15
16-983292-C-T LMF1 c.514+952G>A - IntronicSNV - 3/10
6-31838490-C-T SLC44A4 c.812-11G>A - IntronicSNV - 9/19
1-3209923-A-G PRDM16 c.438+49222A>G - IntronicSNV - 3/16
6-31838490-C-A SLC44A4 c.812-11G>T - IntronicSNV - 9/19
14-90735707-A-G PSMC1 c.882-34A>G - IntronicSNV - 8/10
3-8687561-C-T SSUH2 c.-185+6115G>A - intron_variant - 1/11
14-90735707-A-T PSMC1 c.882-34A>T - IntronicSNV - 8/10
8-6386110-C-T ANGPT2 c.445-913G>A - IntronicSNV - 2/8
1-26568165-A-G CEP85 c.55+1836A>G - IntronicSNV - 2/13
16-28921809-T-C RABEP2 c.1089+400A>G - IntronicSNV - 7/12
8-6386110-C-G ANGPT2 c.445-913G>C - IntronicSNV - 2/8
10-134358273-C-T INPP5A c.75+6598C>T - IntronicSNV - 1/15
16-87998687-G-A BANP c.1-10035G>A - IntronicSNV - 1/11
6-30122154-T-C TRIM10 c.1038A>G p.Gln346Gln Synonymous 7/7 -
19-1497060-C-G REEP6 c.518-113C>G - IntronicSNV - 4/4
19-1497060-C-T REEP6 c.518-113C>T - IntronicSNV - 4/4
2-3660752-T-A COLEC11 c.131-149T>A - IntronicSNV - 2/6
11-35201530-C-A CD44 c.234-291C>A - IntronicSNV - 2/17
17-20097462-A-G SPECC1 c.284-10184A>G - IntronicSNV - 3/7
X-106396402-A-C NUP62CL c.530T>G p.Ile177Ser Missense 7/9 -
3-15762920-C-T ANKRD28 c.694-286G>A - IntronicSNV - 7/27
6-33053887-A-G HLA-DPB1 c.758-109A>G - IntronicSNV - 4/5
1-26877708-G-A RPS6KA1 c.308-180G>A - IntronicSNV - 4/21
7-65437774-C-T GUSB c.1391+1508G>A - IntronicSNV - 8/11
2-7181486-A-G RNF144A c.*1595A>G - 3-UTRSNV 9/9 -
17-4762035-A-G MINK1 c.58-19577A>G - IntronicSNV - 1/30
18-77630571-A-C KCNG2 c.624+6280A>C - IntronicSNV - 1/1
18-77630571-A-G KCNG2 c.624+6280A>G - IntronicSNV - 1/1
17-4762035-A-C MINK1 c.58-19577A>C - IntronicSNV - 1/30
19-1505874-T-C ADAMTSL5 c.*140A>G - 3-UTRSNV 12/12 -
7-100004543-T-C ZCWPW1 c.1066-122A>G - IntronicSNV - 11/17
15-40945900-T-C KNL1 c.6416-1207T>C - IntronicSNV - 21/25
19-1505874-T-A ADAMTSL5 c.*140A>T - 3-UTRSNV 12/12 -
1-66077624-G-A LEPR c.1995+1645G>A - IntronicSNV - 14/19
19-50017724-C-A FCGRT c.582C>A p.Arg194Arg Synonymous 4/7 -
4-47997253-A-G CNGA1 c.-110-13736T>C - intron_variant - 2/10
22-36007075-C-T MB c.174G>A p.Ala58Ala Synonymous 3/4 -
6-30040810-T-G RNF39 c.682+124A>C - IntronicSNV - 3/4
19-50017724-C-T FCGRT c.582C>T p.Arg194Arg Synonymous 4/7 -
6-166877012-G-A RPS6KA2 c.973-3973C>T - IntronicSNV - 11/20
5-497624-G-A SLC9A3 c.212-5438C>T - IntronicSNV - 1/16
16-89480760-A-G ANKRD11 c.-60+3932T>C - intron_variant - 2/12
19-49342188-C-A PLEKHA4 c.1669-802G>T - IntronicSNV - 15/16
19-49342188-C-G PLEKHA4 c.1669-802G>C - IntronicSNV - 15/16
19-49342188-C-T PLEKHA4 c.1669-802G>A - IntronicSNV - 15/16
7-43158477-G-C HECW1 c.-32+4487G>C - intron_variant - 2/29
7-43158477-G-A HECW1 c.-32+4487G>A - intron_variant - 2/29
12-53727955-G-C SP7 c.21+1455C>G - IntronicSNV - 2/2
X-106462405-C-T PIH1D3 c.332+206C>T - IntronicSNV - 4/6
2-127851697-A-G BIN1 c.84+12739T>C - IntronicSNV - 1/18
7-2120758-G-A MAD1L1 c.1074-11785C>T - IntronicSNV - 11/18
6-31727474-A-G MSH5 c.1496-89A>G - IntronicSNV - 17/24
7-146897403-A-G CNTNAP2 c.1348+67802A>G - IntronicSNV - 8/23
14-93170741-T-A LGMN c.1260-35A>T - IntronicSNV - 13/13
16-67758778-C-T RANBP10 c.*1553G>A - 3-UTRSNV 14/14 -
6-26375464-G-T BTN3A2 c.*869G>T - IntronicSNV 9/9 -
6-31084792-C-T CDSN c.600G>A p.Gln200Gln Synonymous 2/2 -
17-4883450-T-A CAMTA2 c.1167A>T p.Thr389Thr Synonymous 9/23 -
11-61609750-C-T FADS2 c.618+1553C>T - IntronicSNV - 4/11
1-42620154-A-G GUCA2B c.91-197A>G - IntronicSNV - 1/2
1-42620154-A-T GUCA2B c.91-197A>T - IntronicSNV - 1/2
6-31374579-A-G MICA c.70+3100A>G - IntronicSNV - 1/5
17-7350544-G-A CHRNB1 c.462+74G>A - IntronicSNV - 5/10
1-232086153-G-A DISC1 c.1982-8421G>A - IntronicSNV - 9/12
7-150439500-C-T GIMAP1-GIMAP5 c.885C>T p.Ala295Ala Synonymous 6/6 -
12-124409502-G-A DNAH10 c.11413-95G>A - IntronicSNV - 66/77
1-150658971-C-T GOLPH3L c.183+8161G>A - IntronicSNV - 2/4
2-120123277-C-T C2orf76 c.-216+656G>A - intron_variant - 1/6
11-72432985-G-A ARAP1 c.509+4680C>T - IntronicSNV - 3/34
6-46682079-A-G PLA2G7 c.470+118T>C - IntronicSNV - 5/11
1-25687901-T-C TMEM50A c.*705T>C - 3-UTRSNV 7/7 -
17-647988-C-T GEMIN4 c.*118G>A - 3-UTRSNV 2/2 -
15-86311695-G-C KLHL25 c.1347C>G p.Phe449Leu Missense 2/3 -
15-86311695-G-A KLHL25 c.1347C>T p.Phe449Phe Synonymous 2/3 -
1-230815481-T-G COG2 c.1166+683T>G - IntronicSNV - 10/17
3-97188153-G-A EPHA6 c.1895-6043G>A - IntronicSNV - 7/17
2-55886602-T-C PNPT1 c.1284+690A>G - IntronicSNV - 15/27
10-94415078-A-T KIF11 c.*1525A>T - 3-UTRSNV 22/22 -
17-4883450-T-C CAMTA2 c.1167A>G p.Thr389Thr Synonymous 9/23 -
2-178683973-C-T PDE11A c.244+974G>A - IntronicSNV - 4/16
13-53263266-C-T SUGT1 c.*1296C>T - IntergenicSNV 14/14 -
16-85044207-T-C ZDHHC7 c.-104+685A>G - intron_variant - 1/7
11-118509668-A-G PHLDB1 c.2595A>G p.Glu865Glu Synonymous 12/24 -
6-32168771-G-T NOTCH4 c.4152C>A p.Val1384Val Synonymous 23/30 -
17-37814080-G-A STARD3 c.350G>A p.Arg117Gln Missense 4/15 -
19-37946180-G-A ZNF569 c.-44+10035C>T - intron_variant - 2/5
14-24898355-C-A CBLN3 c.1-95G>T - 5-UTRSNV 1/3 -
11-72439241-T-C ARAP1 c.1-1068A>G - IntronicSNV - 1/34
1-246410112-T-C SMYD3 c.354+80391A>G - IntronicSNV - 5/11
17-28647752-G-A TMIGD1 c.641-1821C>T - IntronicSNV - 4/6
11-46849360-G-A CKAP5 c.1-6578C>T - IntronicSNV - 1/42
17-30281992-T-A SUZ12 c.455+7288T>A - IntronicSNV - 4/15
1-67655954-A-G IL23R c.491+7312A>G - IntronicSNV - 4/10
4-141388317-C-T MGAT4D c.573-2154G>A - IntronicSNV - 5/10
12-57807114-T-C R3HDM2 c.-106+17389A>G - intron_variant - 1/23
4-157720124-C-T PDGFC c.495+11865G>A - IntronicSNV - 3/5
19-1505874-T-G ADAMTSL5 c.*140A>C - 3-UTRSNV 12/12 -
2-234628529-T-C UGT1A4 c.867+196T>C - IntronicSNV - 1/4
11-64514506-A-T PYGM c.2313-47T>A - IntronicSNV - 18/19
11-64514506-A-G PYGM c.2313-47T>C - IntronicSNV - 18/19
1-3108496-G-A PRDM16 c.387+5458G>A - IntronicSNV - 2/16
18-74691112-T-C MBP c.*1271A>G - 3-UTRSNV 7/7 -
18-31318376-A-G ASXL3 c.1083-75A>G - IntronicSNV - 10/11
19-37917692-G-A ZNF569 c.16-412C>T - IntronicSNV - 3/5
2-86447273-T-G REEP1 c.596-3040A>C - IntronicSNV - 6/6
12-11338750-T-C TAS2R42 c.794A>G p.Tyr265Cys Missense 1/1 -
17-40498273-T-C STAT3 c.273+314A>G - IntronicSNV - 3/23
17-40498273-T-A STAT3 c.273+314A>T - IntronicSNV - 3/23
2-179361881-G-T PLEKHA3 c.615+1494G>T - IntronicSNV - 5/7
3-125760349-G-A SLC41A3 c.382-7828C>T - IntronicSNV - 3/10
1-26884864-G-A RPS6KA1 c.1085-434G>A - IntronicSNV - 13/21
14-77934587-T-C AHSA1 c.792+60T>C - IntronicSNV - 7/8
2-178682603-T-C PDE11A c.294A>G p.Ala98Ala Synonymous 5/17 -
6-32064726-T-C TNXB c.904A>G p.Thr302Ala Missense 3/44 -
16-1901211-G-T MEIOB c.778+1829C>A - IntronicSNV - 9/12
6-31085382-C-A CDSN c.86-76G>T - IntronicSNV - 1/1
11-293188-T-C PGGHG c.1296T>C p.His432His Synonymous 8/14 -
10-93691840-A-G BTAF1 c.15-3574A>G - IntronicSNV - 1/37
16-28857645-A-C TUFM c.1-55T>G - 5-UTRSNV 1/10 -
16-28857645-A-G TUFM c.1-55T>C - 5-UTRSNV 1/10 -
12-88900246-G-T KITLG c.631-91C>A - IntronicSNV - 6/8
6-167744409-T-C TTLL2 c.47+5701T>C - IntronicSNV - 1/2
5-140570973-C-T PCDHB9 c.*1688C>T - 3_prime_UTR_variant 2/2 -
2-234673309-C-T UGT1A1 c.865-2371C>T - IntronicSNV - 1/4
11-61571348-C-T FADS1 c.1054-109G>A - IntronicSNV - 7/11
2-178681534-C-T PDE11A c.405+22G>A - IntronicSNV - 6/16
6-31733466-T-G VWA7 c.2581A>C p.Thr861Pro Missense 17/17 -
6-116454588-G-A NT5DC1 c.529+15480G>A - IntronicSNV - 6/11
17-42327493-G-T SLC4A1 c.*333C>A - 3-UTRSNV 20/20 -
7-2752932-C-T AMZ1 c.*420C>T - 3-UTRSNV 7/7 -
6-31837250-G-A SLC44A4 c.1004+72C>T - IntronicSNV - 11/19
7-100070758-T-C TSC22D4 c.929+1139A>G - IntronicSNV - 3/4
4-2951804-A-G NOP14 c.1139T>C p.Leu380Ser Missense 8/19 -
2-198875464-G-A PLCL1 c.241-73018G>A - IntronicSNV - 1/5
7-2172455-G-A MAD1L1 c.1073+16332C>T - IntronicSNV - 11/18
1-110281941-G-A GSTM3 c.189+110C>T - IntronicSNV - 4/8
17-28576076-T-C BLMH c.1327A>G p.Ile443Val Missense 12/12 -
2-191370268-A-G NEMP2 c.*3647T>C - IntergenicSNV 9/9 -
1-1846765-G-A CALML6 c.27+19G>A - IntronicSNV - 1/5
7-158710642-A-G WDR60 c.1792-789A>G - IntronicSNV - 14/24
2-234637192-C-T UGT1A4 c.867+8859C>T - IntronicSNV - 1/4
6-143930768-T-C PHACTR2 c.13+1309T>C - IntronicSNV - 1/12
15-82564555-C-T SAXO2 c.253+412C>T - IntronicSNV - 2/2
16-67796315-A-C RANBP10 c.400+9622T>G - IntronicSNV - 3/13
8-101226443-A-G SPAG1 c.1535+297A>G - IntronicSNV - 12/18
8-6386204-C-T ANGPT2 c.445-1007G>A - IntronicSNV - 2/8
9-136538360-A-G SARDH c.2164-1541T>C - IntronicSNV - 17/20
12-110004040-C-T MMAB c.291-1059G>A - IntronicSNV - 3/8
1-66102257-G-A LEPR c.3057G>A p.Pro1019Pro Synonymous 20/20 -
8-38835269-T-C HTRA4 c.772-203T>C - IntronicSNV - 3/8
4-120508298-C-T PDE5A c.831+9380G>A - IntronicSNV - 3/20
13-36848187-T-C CCDC169 c.315+9419A>G - IntronicSNV - 4/7
1-67653010-G-A IL23R c.491+4368G>A - IntronicSNV - 4/10
6-32410137-T-C HLA-DRA c.83-88T>C - IntronicSNV - 1/4
6-46657057-A-G TDRD6 c.1192A>G p.Thr398Ala Missense 1/4 -
4-87690998-A-G PTPN13 c.4509A>G p.Ile1503Met Missense 28/47 -
6-166878094-G-A RPS6KA2 c.973-5055C>T - IntronicSNV - 11/20
21-44323590-T-A NDUFV3 c.170-5384T>A - IntronicSNV - 2/2
21-44323590-T-G NDUFV3 c.170-5384T>G - IntronicSNV - 2/2
17-44039691-A-G MAPT c.1-13A>G - 5-UTRSNV 2/14 -
6-26373678-G-A BTN3A2 c.964+37G>A - IntronicSNV - 6/8
5-112723567-A-G MCC c.171-2658T>C - IntronicSNV - 1/18
14-73355131-T-C DPF3 c.32+5634A>G - IntronicSNV - 1/10
1-154437896-T-C IL6R c.*40T>C - 3-UTRSNV 10/10 -
11-133809032-C-T IGSF9B c.410-1176G>A - IntronicSNV - 3/19
17-56492800-T-C RNF43 c.139A>G p.Ile47Val Missense 2/10 -
15-78825562-C-T HYKK c.672C>T p.His224His Synonymous 5/5 -
15-78825562-C-A HYKK c.672C>A p.His224Gln Missense 5/5 -
17-7118322-A-G DLG4 c.159+3238T>C - IntronicSNV - 3/21
8-116650491-T-C TRPS1 c.1-14627A>G - IntronicSNV - 1/6
16-4527109-T-C HMOX2 c.-160+621T>C - intron_variant - 1/6
19-16945205-G-A SIN3B c.381+2747G>A - IntronicSNV - 3/19
16-67911517-T-C EDC4 c.747T>C p.Cys249Cys Synonymous 6/29 -
4-140946828-C-T MAML3 c.468+127186G>A - IntronicSNV - 1/4
17-43924073-T-C SPPL2C c.1801T>C p.Ser601Pro Missense 1/1 -
6-31506801-G-A DDX39B c.339+123C>T - IntronicSNV - 3/10
19-37428465-T-C ZNF568 c.358+321T>C - IntronicSNV - 6/6
11-47807774-T-C NUP160 c.3848+231A>G - IntronicSNV - 32/35
12-125814387-C-T TMEM132B c.52+3166C>T - IntronicSNV - 1/8
10-12676957-T-C CAMK1D c.225-31778T>C - IntronicSNV - 2/9
3-105441133-T-C CBLB c.1204-2039A>G - IntronicSNV - 9/18
3-105441133-T-A CBLB c.1204-2039A>T - IntronicSNV - 9/18
21-44323590-T-C NDUFV3 c.170-5384T>C - IntronicSNV - 2/2
17-44187492-A-G KANSL1 c.1290-15425T>C - IntronicSNV - 2/14
4-38079475-A-G TBC1D1 c.2051-12078A>G - IntronicSNV - 12/19
2-24391129-A-C FAM228B c.*14+577A>C - intron_variant - 11/11
2-24391129-A-T FAM228B c.*14+577A>T - intron_variant - 11/11
2-24391129-A-G FAM228B c.*14+577A>G - intron_variant - 11/11
8-642842-G-A ERICH1 c.170-230C>T - IntronicSNV - 2/5
3-186449916-T-C KNG1 c.758-375T>C - IntronicSNV - 6/9
4-38046569-T-C TBC1D1 c.1542+458T>C - IntronicSNV - 9/19
4-38046569-T-A TBC1D1 c.1542+458T>A - IntronicSNV - 9/19
6-33178010-G-T RING1 c.455+103G>T - IntronicSNV - 4/6
16-4855279-A-G GLYR1 c.1620T>C p.Ser540Ser Synonymous 16/16 -
16-4013467-C-T ADCY9 c.*2309G>A - 3-UTRSNV 11/11 -
10-104848123-G-A NT5C2 c.*1306C>T - 3-UTRSNV 19/19 -
19-44562928-A-G ZNF223 c.16-1680A>G - IntronicSNV - 2/4
12-112245170-A-C ALDH2 c.1522-2177A>C - IntronicSNV - 12/12
13-44439169-T-C CCDC122 c.156+3661A>G - IntronicSNV - 4/6
2-219154781-G-A TMBIM1 c.-41+2408C>T - intron_variant - 1/11
15-86311695-G-T KLHL25 c.1347C>A p.Phe449Leu Missense 2/3 -
4-48999842-G-A CWH43 c.714-635G>A - IntronicSNV - 5/15
19-41932120-C-T B3GNT8 c.564G>A p.Val188Val Synonymous 3/3 -
17-7395549-A-G POLR2A c.94-3711A>G - IntronicSNV - 1/28
4-26337615-T-A RBPJ c.20+14945T>A - IntronicSNV - 1/10
7-75696420-A-G MDH2 c.*692A>G - IntergenicSNV 9/9 -
15-78833758-G-A PSMA4 c.1-512G>A - IntronicSNV - 1/8
15-78833758-G-C PSMA4 c.1-512G>C - IntronicSNV - 1/8
5-1052360-C-T SLC12A7 c.*115G>A - 3-UTRSNV 24/24 -
2-204292517-T-A ABI2 c.*442T>A - 3-UTRSNV 10/10 -
2-204292517-T-C ABI2 c.*442T>C - 3-UTRSNV 10/10 -
17-30281992-T-C SUZ12 c.455+7288T>C - IntronicSNV - 4/15
6-31475127-A-G MICB c.892+50A>G - IntronicSNV - 4/5
6-31475127-A-T MICB c.892+50A>T - IntronicSNV - 4/5
7-1882227-C-T MAD1L1 c.1999-26363G>A - IntronicSNV - 18/18
7-1882227-C-A MAD1L1 c.1999-26363G>T - IntronicSNV - 18/18
4-100058727-C-T ADH4 c.351-879G>A - IntronicSNV - 4/8
15-78871288-T-C CHRNA5 c.107-1865T>C - IntronicSNV - 1/5
19-10668673-A-C KRI1 c.1334T>G - missense_variant 14/19 -
2-55798108-C-T PPP4R3B c.1510-2609G>A - intron_variant - 10/14
6-30679628-T-A MDC1 c.2068+23A>T - IntronicSNV - 5/14
17-56585872-G-C MTMR4 c.508C>G p.Leu170Val Missense 7/19 -
16-10208218-G-T GRIN2A c.414+65637C>A - IntronicSNV - 3/13
7-1053958-C-T C7orf50 c.130-4179G>A - IntronicSNV - 2/4
10-94354204-T-C KIF11 c.77+995T>C - IntronicSNV - 1/21
10-94354204-T-G KIF11 c.77+995T>G - IntronicSNV - 1/21
15-80190308-A-G ST20-MTHFS c.46-8612T>C - IntronicSNV - 2/3
8-144413416-G-A TOP1MT c.216C>T p.Asp72Asp Synonymous 2/14 -
13-52548140-A-C ATP7B c.1216T>G p.Ser406Ala Missense 2/21 -
X-44184600-T-C EFHC2 c.43-12598A>G - IntronicSNV - 1/14
11-8709551-T-C RPL27A c.*2198T>C - 3-UTRSNV 5/5 -
17-6483046-T-C KIAA0753 c.*21A>G - 3-UTRSNV 19/19 -
17-56585872-G-T MTMR4 c.508C>A p.Leu170Met Missense 7/19 -
7-2753725-C-T AMZ1 c.*1213C>T - 3-UTRSNV 7/7 -
19-38249671-A-T ZNF573 c.1-435T>A - IntronicSNV - 1/7
19-38249671-A-C ZNF573 c.1-435T>G - IntronicSNV - 1/7
4-87754419-C-T SLC10A6 c.496+40G>A - IntronicSNV - 2/5
4-100054970-A-G ADH4 c.583-2055T>C - IntronicSNV - 5/8
19-33106621-C-T ANKRD27 c.2118G>A p.Ala706Ala Synonymous 22/29 -
17-6538355-G-A KIAA0753 c.69C>T p.Ser23Ser Synonymous 2/19 -
11-791462-G-A SLC25A22 c.*453C>T - 3-UTRSNV 10/10 -
12-31241345-A-G DDX11 c.684+428A>G - IntronicSNV - 6/26
2-219541056-T-C STK36 c.684+55T>C - IntronicSNV - 6/26
6-32411726-G-A HLA-DRA c.*39G>A - IntronicSNV - 4/4
10-54529257-A-G MBL2 c.305-182T>C - IntronicSNV - 2/3
19-44532767-G-A ZNF222 c.262+1125G>A - IntronicSNV - 3/3
7-1947895-C-T MAD1L1 c.1808-9869G>A - IntronicSNV - 17/18
2-109893210-G-A SH3RF3 c.574-70920G>A - IntronicSNV - 1/9
5-74382081-G-A ANKRD31 c.5302-1882C>T - IntronicSNV - 22/24
17-35632979-C-A ACACA c.692-37G>T - IntronicSNV - 7/55
6-116314634-C-A FRK c.466+10406G>T - IntronicSNV - 2/7
17-78591111-A-C RPTOR c.163-8380A>C - IntronicSNV - 1/33
3-15737610-T-C ANKRD28 c.1569+31A>G - IntronicSNV - 15/27