PMID: 31596850

Bayesian multivariate reanalysis of large genetic studies identifies many new associations.

PLoS genetics
MC Turchin, M Stephens
2019-10

1400 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-84580582-A-T ADAMTSL3 c.1701-1262A>T - IntronicSNV - 15/29
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
10-80928793-G-T ZMIZ1 c.-50+6903G>T - intron_variant - 4/24
11-33913568-T-C LMO2 c.-562A>G - 5_prime_UTR_variant 1/6 -
4-38688362-C-T KLF3 c.58-1844C>T - IntronicSNV - 2/5
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
20-34023962-G-A GDF5 c.631+1116C>T - IntronicSNV - 1/1
12-65677086-T-C MSRB3 c.97+4441T>C - IntronicSNV - 1/5
15-86249722-G-A AKAP13 c.5465-1528G>A - IntronicSNV - 17/36
5-141494934-C-T NDFIP1 c.63+6332C>T - IntronicSNV - 1/7
19-44278781-G-A KCNN4 c.256-10C>T - IntronicSNV - 2/8
4-2218888-C-G POLN c.134-4035G>C - IntronicSNV - 3/25
4-2218888-C-T POLN c.134-4035G>A - IntronicSNV - 3/25
8-41630447-G-A ANK1 c.28-14792C>T - IntronicSNV - 1/41
19-4061544-C-T ZBTB7A c.-16+5136G>A - intron_variant - 1/2
5-176675423-A-G NSD1 c.3834+98A>G - IntronicSNV - 12/23
2-46353166-A-G PRKCE c.1593-19066A>G - IntronicSNV - 11/14
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
5-72144005-C-T TNPO1 c.16-207C>T - IntronicSNV - 1/24
22-40713861-T-A TNRC6B c.2562+1845T>A - IntronicSNV - 22/23
2-165548569-G-T COBLL1 c.3414+162C>A - IntronicSNV - 13/13
10-101912064-T-C ERLIN1 c.871A>G p.Ile291Val Missense 11/11 -
10-101805442-C-T CPN1 c.1230+3073G>A - IntronicSNV - 8/8
1-153927052-C-G CRTC2 c.373-260G>C - IntronicSNV - 3/13
8-135650483-G-A ZFAT c.161-528C>T - IntronicSNV - 3/16
4-122736053-T-C EXOSC9 c.1156+851T>C - IntronicSNV - 10/11
19-17240393-G-A MYO9B c.841-15814G>A - IntronicSNV - 2/39
9-95429120-A-C IPPK c.81+3070T>G - IntronicSNV - 1/12
14-91465976-C-A RPS6KA5 c.175+1456G>T - IntronicSNV - 2/16
7-50428445-T-C IKZF1 c.161-15786T>C - intron_variant - 3/7
17-2005136-C-G SMG6 c.634-15941G>C - IntronicSNV - 6/11
19-2177193-C-A DOT1L c.82-3519C>A - IntronicSNV - 1/27
19-2177193-C-T DOT1L c.82-3519C>T - IntronicSNV - 1/27
3-141163045-T-C ZBTB38 c.1815T>C p.Val605Val Synonymous 8/8 -
18-2766938-A-G SMCHD1 c.4720-2754A>G - IntronicSNV - 37/47
6-45244415-T-C SUPT3H c.134+45118A>G - IntronicSNV - 4/12
3-81792112-C-A GBE1 c.143+18414G>T - IntronicSNV - 1/15
19-2177193-C-G DOT1L c.82-3519C>G - IntronicSNV - 1/27
11-57004344-G-A APLNR c.135C>T p.Gly45Gly Synonymous 1/1 -
14-74218569-C-T ELMSAN1 c.-248+7897G>A - intron_variant - 1/11
11-118486067-T-C PHLDB1 c.184+670T>C - IntronicSNV - 4/23
6-160774441-G-C SLC22A3 c.429+4561G>C - IntronicSNV - 1/10
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
11-8604593-T-C STK33 c.-311+10698A>G - intron_variant - 1/13
19-8456281-G-A RAB11B c.40+941G>A - IntronicSNV - 1/4
4-15655721-A-G FBXL5 c.84+1106T>C - IntronicSNV - 1/10
11-61604814-C-A FADS2 c.208-436C>A - IntronicSNV - 1/11
6-127452935-C-T RSPO3 c.97+12501C>T - IntronicSNV - 1/4
3-69845508-A-T MITF c.104+56656A>T - IntronicSNV - 1/9
19-44082429-C-A PINLYP c.71-313C>A - intron_variant - 2/5
8-4827332-T-C CSMD1 c.85+24522A>G - IntronicSNV - 1/69
6-111280332-G-C GTF3C6 c.58-43G>C - IntronicSNV - 1/5
13-33723244-C-T STARD13 c.300-6734G>A - IntronicSNV - 3/7
3-51071713-T-C DOCK3 c.316-30166T>C - IntronicSNV - 5/52
19-4929473-A-G UHRF1 c.393A>G p.Glu131Glu Synonymous 3/18 -
19-4929473-A-C UHRF1 c.393A>C p.Glu131Asp Missense 3/18 -
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
2-33361425-A-G LTBP1 c.1201+1398A>G - IntronicSNV - 5/33
5-36065463-C-G UGT3A2 c.95-1011G>C - IntronicSNV - 1/6
5-36065463-C-T UGT3A2 c.95-1011G>A - IntronicSNV - 1/6
18-46207268-G-A CTIF c.507+10153G>A - IntronicSNV - 6/11
12-112003695-T-A ATXN2 c.252-9972A>T - intron_variant - 1/24
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-150958836-A-G ANXA9 c.497A>G p.Asp166Gly Missense 8/14 -
9-4118111-G-T GLIS3 c.902C>A p.Pro301Gln Missense 3/10 -
12-11855773-G-A ETV6 c.34-49611G>A - IntronicSNV - 1/7
14-64703593-G-A ESR2 c.1226-1725C>T - IntronicSNV - 7/8
13-21570246-T-G LATS2 c.343-4703A>C - IntronicSNV - 2/7
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
3-47927484-T-C MAP4 c.2000-8471A>G - IntronicSNV - 8/18
17-17420199-G-A PEMT c.210-4231C>T - IntronicSNV - 3/6
15-75845097-T-C PTPN9 c.64-25495A>G - IntronicSNV - 1/12
13-28015542-G-A MTIF3 c.1-957C>T - IntronicSNV - 1/4
22-39907661-G-A MIEF1 c.145-193G>A - IntronicSNV - 3/5
19-4366219-A-G SH3GL1 c.187+279T>C - IntronicSNV - 3/9
4-124066948-G-A SPATA5 c.2340+55088G>A - IntronicSNV - 14/15
19-2176403-G-A DOT1L c.82-4309G>A - IntronicSNV - 1/27
2-26357748-G-C RAB10 c.520-59G>C - IntronicSNV - 5/5
11-61571478-T-C FADS1 c.1054-239A>G - IntronicSNV - 7/11
12-121154221-T-C UNC119B c.359-210T>C - IntronicSNV - 2/4
2-25040082-C-T CENPO c.766+396C>T - IntronicSNV - 6/7
9-119422807-T-A ASTN2 c.2654-8735A>T - IntronicSNV - 15/21
6-7804377-T-C BMP6 c.665-40996T>C - IntronicSNV - 1/6
15-101762539-C-T CHSY1 c.816+12748G>A - IntronicSNV - 2/2
18-43833278-G-A C18orf25 c.899-385G>A - IntronicSNV - 3/4
16-11445040-G-A RMI2 c.*393G>A - 3-UTRSNV 2/2 -
4-88022709-C-T AFF1 c.1263-4071C>T - IntronicSNV - 7/19
15-51269629-A-G AP4E1 c.1742-6590A>G - IntronicSNV - 15/20
17-7578115-T-A TP53 c.672+62A>T - IntronicSNV - 6/10
17-7578115-T-C TP53 c.672+62A>G - IntronicSNV - 6/10
4-88022709-C-A AFF1 c.1263-4071C>A - IntronicSNV - 7/19
1-231558054-G-A EGLN1 c.1-420C>T - 5-UTRSNV 1/5 -
10-104595849-G-C CYP17A1 c.298-700C>G - IntronicSNV - 1/7
10-104595849-G-A CYP17A1 c.298-700C>T - IntronicSNV - 1/7
10-104595849-G-T CYP17A1 c.298-700C>A - IntronicSNV - 1/7
11-61549025-G-A MYRF c.2660-20G>A - IntronicSNV - 20/25
2-190432985-C-G SLC40A1 c.515-2660G>C - IntronicSNV - 5/7
1-231558054-G-C EGLN1 c.1-420C>G - 5-UTRSNV 1/5 -
5-176817636-A-G SLC34A1 c.936+2263A>G - IntronicSNV - 8/12
18-46463136-A-C SMAD7 c.742+5715T>G - IntronicSNV - 3/3
4-77129568-C-G SCARB2 c.117+5012G>C - IntronicSNV - 1/11
3-185818882-A-G ETV5 c.232+4212T>C - IntronicSNV - 5/12
4-48687351-A-G FRYL c.-203-539T>C - intron_variant - 2/63
2-183219101-C-A PDE1A c.102-89960G>T - IntronicSNV - 2/14
5-79836192-G-T FAM151B c.672-1300G>T - IntronicSNV - 5/5
7-80298173-C-T CD36 c.749-1096C>T - IntronicSNV - 8/13
10-80928793-G-C ZMIZ1 c.-50+6903G>C - intron_variant - 4/24
18-46460903-C-A SMAD7 c.742+7948G>T - IntronicSNV - 3/3
18-46460903-C-G SMAD7 c.742+7948G>C - IntronicSNV - 3/3
10-87410904-A-G GRID1 c.1998-3750T>C - IntronicSNV - 12/15
2-114653871-A-G ACTR3 c.44+5971A>G - IntronicSNV - 1/11
10-102684380-C-A SLF2 c.1622C>A p.Ser541Tyr Missense 5/19 -
20-33175466-C-T PIGU c.782+791G>A - IntronicSNV - 8/11
12-111884608-T-C SH2B3 c.784T>C p.Trp262Arg Missense 3/8 -
12-111884608-T-A SH2B3 c.784T>A p.Trp262Arg Missense 3/8 -
7-95169514-G-T ASB4 c.*2443G>T - 3-UTRSNV 5/5 -
3-24341268-A-G THRB c.-43+37523T>C - intron_variant - 2/9
3-191111160-A-G CCDC50 c.*1611A>G - 3-UTRSNV 11/11 -
11-47468569-A-G RAPSN c.531+795T>C - IntronicSNV - 2/7
12-20857467-A-C SLCO1C1 c.272-1416A>C - IntronicSNV - 3/14
17-29262773-T-C ADAP2 c.510+1458T>C - IntronicSNV - 5/10
15-84514290-C-G ADAMTSL3 c.727+7323C>G - IntronicSNV - 7/29
15-84514290-C-A ADAMTSL3 c.727+7323C>A - IntronicSNV - 7/29
15-84514290-C-T ADAMTSL3 c.727+7323C>T - IntronicSNV - 7/29
9-139111870-G-T QSOX2 c.822-860C>A - IntronicSNV - 6/11
9-2640759-A-G VLDLR c.326-618A>G - IntronicSNV - 3/18
15-78591037-A-G WDR61 c.-40+867T>C - intron_variant - 1/10
19-18577873-G-C ELL c.184-1145C>G - IntronicSNV - 2/11
14-65568215-G-A MAX c.63+49C>T - IntronicSNV - 2/3
1-25636197-A-G RHD c.1073+2977A>G - IntronicSNV - 7/9
11-86881464-G-T TMEM135 c.462+13016G>T - IntronicSNV - 5/14
11-128586155-C-T FLI1 c.18+21984C>T - IntronicSNV - 1/8
19-33356891-T-C SLC7A9 c.88-1209A>G - IntronicSNV - 2/12
10-114756041-A-G TCF7L2 c.382-43743A>G - IntronicSNV - 3/13
2-219557738-G-T STK36 c.2044-225G>T - IntronicSNV - 16/26
2-73868328-A-G NAT8 c.428T>C p.Phe143Ser Missense 2/2 -
11-18560317-G-C UEVLD c.1061-2301C>G - IntronicSNV - 9/10
4-186697494-T-C SORBS2 c.-180-974A>G - intron_variant - 1/22
17-53242391-A-T STXBP4 c.*5119A>T - IntergenicSNV 18/18 -
10-18727959-C-T CACNB2 c.168+36987C>T - IntronicSNV - 2/12
10-18727959-C-G CACNB2 c.168+36987C>G - IntronicSNV - 2/12
19-52324216-G-C FPR3 c.1-2786G>C - IntronicSNV - 1/1
2-44768202-T-C CAMKMT c.376+150758T>C - IntronicSNV - 3/10
3-41877414-T-C ULK4 c.1706A>G p.Lys569Arg Missense 18/37 -
6-19840926-T-C ID4 c.*2067T>C - 3-UTRSNV 3/3 -
1-11889815-G-A CLCN6 c.1248+436G>A - IntronicSNV - 13/22
11-244552-A-G PSMD13 c.309+83A>G - IntronicSNV - 5/12
19-50044741-C-T RCN3 c.680-1069C>T - IntronicSNV - 5/6
17-27955540-C-G SSH2 c.*2319G>C - 3-UTRSNV 15/15 -
22-37462936-A-T TMPRSS6 c.2207T>A p.Val736Asp Missense 17/18 -
1-11284336-A-T MTOR c.3030+4389T>A - IntronicSNV - 19/57
15-66007972-A-T DENND4A c.1808-11T>A - IntronicSNV - 13/31
8-118185733-A-G SLC30A8 c.*813A>G - 3-UTRSNV 8/8 -
19-50044741-C-G RCN3 c.680-1069C>G - IntronicSNV - 5/6
9-119122342-C-T PAPPA c.4348-2529C>T - IntronicSNV - 17/21
15-66066618-G-C DENND4A c.-94-12842C>G - intron_variant - 1/31
1-203650945-C-T ATP2B4 c.1-1389C>T - IntronicSNV - 1/21
1-11284336-A-G MTOR c.3030+4389T>C - IntronicSNV - 19/57
19-52324216-G-A FPR3 c.1-2786G>A - IntronicSNV - 1/1
4-3473139-A-G DOK7 c.101-1994A>G - IntronicSNV - 2/6
6-33628863-A-G ITPR3 c.712-1442A>G - IntronicSNV - 7/57
12-53664015-G-A ESPL1 c.1143+146G>A - IntronicSNV - 3/30
22-32880585-T-A FBXO7 c.409-470T>A - IntronicSNV - 3/8
22-32880585-T-C FBXO7 c.409-470T>C - IntronicSNV - 3/8
4-77368847-G-A SHROOM3 c.168+11474G>A - IntronicSNV - 1/10
16-88777242-C-T CTU2 c.282+552C>T - IntronicSNV - 4/13
11-8938049-A-T AKIP1 c.409-785A>T - IntronicSNV - 4/5
2-23897725-G-A KLHL29 c.941-9544G>A - IntronicSNV - 5/13
5-37046626-A-G NIPBL c.6589+325A>G - IntronicSNV - 38/45
5-129054621-A-T ADAMTS19 c.3312+14537A>T - intron_variant - 21/22
1-214176779-C-T PROX1 c.1726-1729C>T - IntronicSNV - 2/4
17-7571752-T-G TP53 c.*1175A>C - 3-UTRSNV 11/11 -
8-123980551-C-T ZHX2 c.*5-4931C>T - intron_variant - 3/3
3-141231932-G-A RASA2 c.251+810G>A - IntronicSNV - 2/23
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
5-176576293-C-A NSD1 c.120+13262C>A - IntronicSNV - 3/23
3-24341268-A-T THRB c.-43+37523T>A - intron_variant - 2/9
4-115569030-T-G UGT8 c.823-16121T>G - IntronicSNV - 1/4
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
15-67033151-T-C SMAD6 c.952+24315T>C - IntronicSNV - 3/3
9-136146597-C-A ABO c.28+3981G>T - IntronicSNV - 1/7
9-136146597-C-T ABO c.28+3981G>A - IntronicSNV - 1/7
17-44227393-T-A KANSL1 c.1289+20828A>T - IntronicSNV - 2/14
17-44227393-T-C KANSL1 c.1289+20828A>G - IntronicSNV - 2/14
7-129080620-A-G STRIP2 c.199+688A>G - IntronicSNV - 2/19
5-108113344-C-T FER c.-60+9405C>T - intron_variant - 2/19
11-110016519-T-G ZC3H12C c.774-7125T>G - IntronicSNV - 2/5
10-1156165-T-C WDR37 c.1103+4958T>C - IntronicSNV - 11/13
2-113965198-T-A PSD4 c.*6206T>A - IntergenicSNV 17/17 -
19-17252041-G-A MYO9B c.841-4166G>A - IntronicSNV - 2/39
7-137611566-A-T CREB3L2 c.319+1330T>A - IntronicSNV - 2/11
5-176798040-T-G RGS14 c.1254+8T>G - IntronicSNV - 11/14
7-137611566-A-C CREB3L2 c.319+1330T>G - IntronicSNV - 2/11
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
2-183219101-C-G PDE1A c.102-89960G>C - IntronicSNV - 2/14
7-20382377-C-G ITGB8 c.127+10821C>G - IntronicSNV - 1/13
9-123381222-C-A MEGF9 c.943+3672G>T - IntronicSNV - 3/5
16-53515118-G-T RBL2 c.3084+437G>T - IntronicSNV - 20/21
1-172083881-G-A DNM3 c.1546-16434G>A - IntronicSNV - 13/20
3-4728104-G-A ITPR1 c.3630+1214G>A - IntronicSNV - 29/57
16-53515118-G-A RBL2 c.3084+437G>A - IntronicSNV - 20/21
5-54955071-T-C SLC38A9 c.698-2469A>G - IntronicSNV - 8/15
22-28181399-C-T MN1 c.3781+11352G>A - IntronicSNV - 1/1
22-28181399-C-G MN1 c.3781+11352G>C - IntronicSNV - 1/1
8-120596023-A-G ENPP2 c.1477T>C p.Ser493Pro Missense 17/25 -
6-47475022-T-G CD2AP c.165+3846T>G - IntronicSNV - 2/17
17-79525660-A-G NPLOC4 c.*625T>C - 3-UTRSNV 17/17 -
6-127452639-C-G RSPO3 c.97+12205C>G - IntronicSNV - 1/4
1-10325610-A-G KIF1B c.430-1828A>G - IntronicSNV - 5/46
17-76718842-C-T CYTH1 c.23-13028G>A - IntronicSNV - 1/12
17-76718842-C-A CYTH1 c.23-13028G>T - IntronicSNV - 1/12
22-29449477-A-G ZNRF3 c.2768-90A>G - IntronicSNV - 8/8
1-3318769-C-A PRDM16 c.677-586C>A - IntronicSNV - 5/16
1-3318769-C-G PRDM16 c.677-586C>G - IntronicSNV - 5/16
9-15634326-T-A CCDC171 c.822+10915T>A - IntronicSNV - 7/25
12-111884608-T-G SH2B3 c.784T>G p.Trp262Gly Missense 3/8 -
12-21331549-T-C SLCO1B1 c.521T>C p.Val174Ala Missense 6/15 -
20-21356545-C-T XRN2 c.2585-6087C>T - IntronicSNV - 27/29
1-67510474-A-G SLC35D1 c.637-2463T>C - IntronicSNV - 7/11
16-30015337-A-G INO80E c.514-1205A>G - IntronicSNV - 6/6
1-156963975-G-A ARHGEF11 c.33-8010C>T - IntronicSNV - 1/40
2-43464818-G-A THADA c.5297-4797C>T - IntronicSNV - 36/37
1-17306675-C-A MFAP2 c.-42+407G>T - intron_variant - 1/8
1-146692373-C-T FMO5 c.135+4114G>A - IntronicSNV - 2/8
6-131328080-G-C EPB41L2 c.1-50455C>G - IntronicSNV - 1/14
22-36758547-A-G MYH9 c.1-13266T>C - IntronicSNV - 1/40
2-71584485-G-A ZNF638 c.1379+1575G>A - IntronicSNV - 3/27
1-205201325-A-C TMCC2 c.207+3426A>C - IntronicSNV - 1/4
22-46627603-C-T PPARA c.712-86C>T - IntronicSNV - 6/7
5-67593016-T-C PIK3R1 c.1176-224T>C - IntronicSNV - 9/9
5-67593016-T-A PIK3R1 c.1176-224T>A - IntronicSNV - 9/9
6-142703877-G-A ADGRG6 c.1138+721G>A - IntronicSNV - 5/24
6-127448249-C-G RSPO3 c.97+7815C>G - IntronicSNV - 1/4
10-46009818-C-T MARCH8 c.102+18740G>A - IntronicSNV - 2/6
3-52567617-A-G NT5DC2 c.121+932T>C - IntronicSNV - 1/13
20-34025756-A-G GDF5 c.1-48T>C - 5-UTRSNV 1/2 -
7-100235970-C-A TFR2 c.473+2339G>T - IntronicSNV - 3/17
19-47597102-T-C ZC3H4 c.492+125A>G - IntronicSNV - 4/14
11-30347927-A-G ARL14EP c.-64+3178A>G - intron_variant - 1/3
20-47772264-A-T STAU1 c.206-1656T>A - IntronicSNV - 3/13
20-3742066-T-C C20orf27 c.1-1319A>G - IntronicSNV - 1/5
2-176974104-G-T HOXD11 c.*234G>T - 3-UTRSNV 2/2 -
10-114756041-A-T TCF7L2 c.382-43743A>T - IntronicSNV - 3/13
9-136131463-G-A ABO c.654C>T p.Thr218Thr Synonymous 8/8 -
14-35241254-G-A BAZ1A c.3153-389C>T - IntronicSNV - 20/26
16-81589983-A-C CMIP c.19-51189A>C - IntronicSNV - 1/20
1-54119578-G-A GLIS1 c.-266-53627C>T - intron_variant - 1/9
3-69841880-C-A MITF c.104+53028C>A - IntronicSNV - 1/9
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
6-160774441-G-A SLC22A3 c.429+4561G>A - IntronicSNV - 1/10
6-160774441-G-T SLC22A3 c.429+4561G>T - IntronicSNV - 1/10
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
14-37144516-C-T PAX9 c.772-887C>T - IntronicSNV - 4/4
7-135394174-A-T SLC13A4 c.229-1176T>A - IntronicSNV - 2/15
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
8-25298710-G-C KCTD9 c.215-521C>G - IntronicSNV - 3/11
15-89415247-C-G ACAN c.7005C>G p.Asp2335Glu Missense 14/16 -
1-119491784-A-G TBX15 c.1-17442T>C - IntronicSNV - 1/7
1-248038210-G-A TRIM58 c.872-992G>A - IntronicSNV - 5/5
1-149938898-T-C OTUD7B c.502+321A>G - IntronicSNV - 4/11
12-66359752-C-A HMGA2 c.*2680C>A - 3-UTRSNV 5/5 -
1-17306675-C-G MFAP2 c.-42+407G>C - intron_variant - 1/8
7-98775453-C-G KPNA7 c.1464+90G>C - IntronicSNV - 9/9
7-98775453-C-A KPNA7 c.1464+90G>T - IntronicSNV - 9/9
19-12186611-A-G ZNF844 c.676A>G p.Lys226Glu Missense 4/4 -
1-184023529-A-T TSEN15 c.177A>T p.Gln59His Missense 2/4 -
1-184023529-A-C TSEN15 c.177A>C p.Gln59His Missense 2/4 -
1-184023529-A-G TSEN15 c.177A>G p.Gln59Gln Synonymous 2/4 -
1-214180721-A-G PROX1 c.1833+2106A>G - IntronicSNV - 3/4
3-47511698-T-C SCAP c.-99+5591A>G - intron_variant - 1/22
3-16932989-G-A PLCL2 c.327+6124G>A - intron_variant - 4/8
17-27955540-C-T SSH2 c.*2319G>A - 3-UTRSNV 15/15 -
21-37834258-T-C CLDN14 c.1-265A>G - IntronicSNV - 2/2
3-51071713-T-G DOCK3 c.316-30166T>G - IntronicSNV - 5/52
2-113962835-G-C PSD4 c.*3843G>C - IntergenicSNV 17/17 -
2-113962835-G-A PSD4 c.*3843G>A - IntergenicSNV 17/17 -
19-45395619-A-G TOMM40 c.275-31A>G - IntronicSNV - 2/9
11-56230069-T-C OR5M9 c.809A>G p.Lys270Arg Missense 1/1 -
12-28534415-G-C CCDC91 c.655-9822G>C - IntronicSNV - 7/12
12-28534415-G-T CCDC91 c.655-9822G>T - IntronicSNV - 7/12
9-4847570-T-C RCL1 c.868-1877T>C - IntronicSNV - 7/8
9-4847570-T-A RCL1 c.868-1877T>A - IntronicSNV - 7/8
1-113202571-G-A CAPZA1 c.585+170G>A - IntronicSNV - 7/9
22-44324730-C-T PNPLA3 c.447C>T p.Pro149Pro Synonymous 3/9 -
16-89734831-A-G SPATA33 c.209-863A>G - IntronicSNV - 2/2
2-190432985-C-T SLC40A1 c.515-2660G>A - IntronicSNV - 5/7
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
16-81070008-G-A ATMIN c.336+197G>A - IntronicSNV - 1/3
16-81070008-G-C ATMIN c.336+197G>C - IntronicSNV - 1/3
16-81070008-G-T ATMIN c.336+197G>T - IntronicSNV - 1/3
19-33525713-T-G RHPN2 c.186-8175A>C - IntronicSNV - 2/14
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
3-141275436-G-T RASA2 c.684+682G>T - IntronicSNV - 7/23
14-75038689-T-C LTBP2 c.830+13868A>G - IntronicSNV - 3/35
7-114313218-A-G FOXP2 c.2003+8727A>G - IntronicSNV - 16/16
2-46355051-A-C PRKCE c.1593-17181A>C - IntronicSNV - 11/14
10-126358073-G-T FAM53B c.906+12103C>A - IntronicSNV - 4/4
22-29451671-A-G ZNRF3 c.*2061A>G - 3-UTRSNV 9/9 -
12-121204682-C-G SPPL3 c.974-507G>C - IntronicSNV - 9/10
12-121204682-C-T SPPL3 c.974-507G>A - IntronicSNV - 9/10
6-25590834-T-TT CARMIL1 c.3007-3809_3007-3809dup - IntronicInsertion - 31/36
1-172140548-C-T DNM3 c.1659+40120C>T - IntronicSNV - 14/20
16-30985994-G-T SETD1A c.3358+2954G>T - IntronicSNV - 13/18
16-30985994-G-C SETD1A c.3358+2954G>C - IntronicSNV - 13/18
16-990815-C-T LMF1 c.504-6561G>A - IntronicSNV - 2/10
1-68656697-T-A WLS c.379+2941A>T - IntronicSNV - 2/11
1-68656697-T-C WLS c.379+2941A>G - IntronicSNV - 2/11
21-39838035-T-A ERG c.19-20491A>T - IntronicSNV - 1/9
10-5247098-G-A AKR1C4 c.370-622G>A - IntronicSNV - 3/8
1-3691528-A-G SMIM1 c.1-410A>G - IntronicSNV - 2/3
1-172053287-T-C DNM3 c.1493+2245T>C - IntronicSNV - 12/20
17-599811-A-C VPS53 c.285+847T>G - IntronicSNV - 4/17
17-599811-A-G VPS53 c.285+847T>C - IntronicSNV - 4/17
6-133630561-G-A EYA4 c.33+34610G>A - IntronicSNV - 2/19
19-37441980-A-G ZNF568 c.1925A>G p.Gln642Arg Missense 7/7 -
19-37441980-A-T ZNF568 c.1925A>T p.Gln642Leu Missense 7/7 -
1-149876124-T-C SV2A c.*442A>G - 3-UTRSNV 3/3 -
6-144079629-T-G PHACTR2 c.422-1909T>G - IntronicSNV - 4/12
12-109095137-A-T CORO1C c.1-43T>A - IntronicSNV - 1/10
2-1645673-C-T PXDN c.3952+1467G>A - IntronicSNV - 19/22
12-133069894-G-A FBRSL1 c.291+2447G>A - IntronicSNV - 1/16
4-5016883-G-A CYTL1 c.406C>T p.Arg136Cys Missense 4/4 -
13-110407906-T-C IRS2 c.*745A>G - 3-UTRSNV 2/2 -
1-176792249-A-G PAPPA2 c.5203-17060A>G - IntronicSNV - 21/22
3-133477701-T-C TF c.1049-318T>C - IntronicSNV - 8/16
4-39343940-C-A RFC1 c.331+25G>T - IntronicSNV - 4/24
6-130374461-T-G L3MBTL3 c.582+325T>G - IntronicSNV - 7/22
6-130374461-T-A L3MBTL3 c.582+325T>A - IntronicSNV - 7/22
13-32953388-T-C BRCA2 c.8755-66T>C - IntronicSNV - 21/26
9-71434707-A-C PIP5K1B c.-1+1246A>C - intron_variant - 3/15
9-71434707-A-T PIP5K1B c.-1+1246A>T - intron_variant - 3/15
17-8162820-T-C PFAS c.1336+1303T>C - IntronicSNV - 11/27
9-78542286-G-A PCSK5 c.193-5009G>A - IntronicSNV - 1/36
21-35150947-A-G ITSN1 c.1597-2818A>G - IntronicSNV - 14/39
9-28414339-A-G LINGO2 c.-278-41473T>C - intron_variant - 3/6
17-29164023-C-A ATAD5 c.1968-201C>A - IntronicSNV - 2/22
17-29164023-C-G ATAD5 c.1968-201C>G - IntronicSNV - 2/22
4-77373079-C-T SHROOM3 c.168+15706C>T - IntronicSNV - 1/10
9-117011595-C-T COL27A1 c.2980-1300C>T - IntronicSNV - 24/60
17-44856641-G-C WNT3 c.81-5366C>G - IntronicSNV - 1/4
15-40312615-A-G EIF2AK4 c.4174-485A>G - IntronicSNV - 30/38
8-30280630-A-G RBPMS c.66+37956A>G - IntronicSNV - 1/8
2-203532304-A-G FAM117B c.602-28300A>G - IntronicSNV - 1/7
22-30487619-G-A HORMAD2 c.1-2323G>A - IntronicSNV - 1/10
6-158929442-T-A TULP4 c.*1716T>A - 3-UTRSNV 14/14 -
2-169707428-C-T NOSTRIN c.397-166C>T - IntronicSNV - 7/14
17-43906828-G-A CRHR1 c.435-99G>A - IntronicSNV - 5/13
7-80299850-T-A CD36 c.819-443T>A - IntronicSNV - 9/13
10-61469090-C-T SLC16A9 c.-37+147G>A - intron_variant - 1/5
1-40777842-A-G COL9A2 c.364-58T>C - IntronicSNV - 7/31
7-151407801-G-A PRKAG2 c.467-35078C>T - IntronicSNV - 3/15
1-23766233-C-T ASAP3 c.945-510G>A - IntronicSNV - 10/24
4-88024738-A-G AFF1 c.1263-2042A>G - IntronicSNV - 7/19
11-85432420-A-T SYTL2 c.5327-418T>A - intron_variant - 8/19
2-219305404-G-C VIL1 c.2230-41G>C - IntronicSNV - 18/19
4-106106353-C-T TET2 c.-192-5164C>T - intron_variant - 1/2
10-46002954-C-A MARCH8 c.103-18089G>T - IntronicSNV - 2/6
10-32557592-G-C EPC1 c.*399C>G - 3-UTRSNV 14/14 -
17-21284223-A-G KCNJ12 c.-179+3998A>G - intron_variant - 1/2
4-106106353-C-A TET2 c.-192-5164C>A - intron_variant - 1/2
4-106106353-C-G TET2 c.-192-5164C>G - intron_variant - 1/2
6-109723939-G-A PPIL6 c.766+295C>T - IntronicSNV - 7/8
1-201784287-A-C NAV1 c.5340+1901A>C - IntronicSNV - 28/29
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
3-105204701-T-C ALCAM c.74-34210T>C - IntronicSNV - 1/15
8-57095808-T-C PLAG1 c.-321-3736A>G - intron_variant - 1/4
4-145035788-G-A GYPA c.436+54C>T - IntronicSNV - 6/6
1-93558818-A-G MTF2 c.5+13730A>G - IntronicSNV - 1/14
1-93558818-A-T MTF2 c.5+13730A>T - IntronicSNV - 1/14
5-173362458-G-A CPEB4 c.1258+2955G>A - IntronicSNV - 3/9
15-90623052-T-C ZNF710 c.1986T>C p.Asn662Asn Synonymous 5/5 -
7-55889334-G-A SEPT14 c.721-2418C>T - IntronicSNV - 6/9
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
12-120589160-A-T GCN1 c.4098T>A p.Leu1366Leu Synonymous 34/58 -
12-120589160-A-G GCN1 c.4098T>C p.Leu1366Leu Synonymous 34/58 -
12-28112256-C-T PTHLH c.525-755G>A - IntronicSNV - 5/5
12-28112256-C-A PTHLH c.525-755G>T - IntronicSNV - 5/5
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
11-75531695-C-T UVRAG c.117+5126C>T - IntronicSNV - 1/14
11-75531695-C-A UVRAG c.117+5126C>A - IntronicSNV - 1/14
6-151874122-A-G CCDC170 c.774+4498A>G - IntronicSNV - 5/10
8-116533758-A-G TRPS1 c.2700+65470T>C - IntronicSNV - 5/6
15-51530495-G-A CYP19A1 c.146-1289C>T - IntronicSNV - 2/9
15-56504598-G-A RFX7 c.161+30725C>T - IntronicSNV - 2/9
3-52831701-C-G ITIH3 c.550-132C>G - IntronicSNV - 5/21
21-30499897-A-C MAP3K7CL c.371-21613A>C - IntronicSNV - 7/9
14-55245149-A-G SAMD4A c.2044+1891A>G - IntronicSNV - 11/12
7-106792704-T-C PRKAR2B c.844-918T>C - IntronicSNV - 7/10
4-88750703-C-T MEPE c.1-5164C>T - IntronicSNV - 1/3
1-10357806-G-C KIF1B c.1977+502G>C - IntronicSNV - 20/46
21-35107734-C-T ITSN1 c.346+225C>T - IntronicSNV - 5/39
15-61408362-G-A RORA c.166+112890C>T - IntronicSNV - 1/10
1-110154688-T-C GNAT2 c.118+687A>G - IntronicSNV - 1/7
12-94126925-T-G CRADD c.298+54077T>G - IntronicSNV - 2/2
14-55203126-G-A SAMD4A c.716-616G>A - IntronicSNV - 3/12
13-109419159-G-T MYO16 c.442-18824G>T - IntronicSNV - 4/34
4-39365720-A-G RFC1 c.3+2139T>C - IntronicSNV - 1/24
12-66351826-T-G HMGA2 c.283-5199T>G - IntronicSNV - 4/4
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
2-24007122-T-C ATAD2B c.2974-1224A>G - IntronicSNV - 21/27
2-56111309-C-T EFEMP1 c.518-2440G>A - IntronicSNV - 5/11
12-20536371-G-A PDE3A c.960+13193G>A - IntronicSNV - 1/15
10-104869038-T-C NT5C2 c.176-2575A>G - IntronicSNV - 4/18
2-33405151-T-C LTBP1 c.1202-6772T>C - IntronicSNV - 5/33
16-15129970-A-G PDXDC1 c.2205A>G p.Leu735Leu Synonymous 23/23 -
19-35556744-T-C HPN c.1051-28T>C - IntronicSNV - 12/13
1-11862778-A-G MTHFR c.236+160T>C - IntronicSNV - 2/11
17-36922196-A-G PIP4K2B c.*3748T>C - 3-UTRSNV 10/10 -
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
12-121126438-T-C MLEC c.235+1104T>C - IntronicSNV - 1/4
12-121126438-T-G MLEC c.235+1104T>G - IntronicSNV - 1/4
4-40151912-C-T N4BP2 c.5144-2488C>T - IntronicSNV - 16/17
4-40151912-C-A N4BP2 c.5144-2488C>A - IntronicSNV - 16/17
1-120272477-T-C PHGDH c.510+2752T>C - IntronicSNV - 5/11
3-71521494-C-T FOXP1 c.-168+21083G>A - intron_variant - 3/20
3-12632652-G-C RAF1 c.1194-179C>G - IntronicSNV - 11/16
3-135974216-G-A PCCB c.184-482G>A - IntronicSNV - 1/14
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
17-37665554-G-C CDK12 c.2610-404G>C - IntronicSNV - 6/13
17-37665554-G-A CDK12 c.2610-404G>A - IntronicSNV - 6/13
12-56740682-C-G STAT2 c.1782G>C p.Met594Ile Missense 20/24 -
17-64210580-A-G APOH c.973T>C p.Cys325Arg Missense 7/8 -
6-35246903-G-A ZNF76 c.1-2026G>A - IntronicSNV - 1/13
7-121033121-T-C FAM3C c.-42+3135A>G - intron_variant - 1/9
3-123065778-A-G ADCY5 c.1406+851T>C - IntronicSNV - 3/20
2-169763148-T-C G6PC2 c.441-26T>C - IntronicSNV - 3/4
5-112176756-T-A APC c.5465T>A p.Val1822Asp Missense 16/16 -
5-112176756-T-G APC c.5465T>G p.Val1822Gly Missense 16/16 -
10-71094504-T-C HK1 c.64-9079T>C - IntronicSNV - 1/17
10-101912194-C-T ERLIN1 c.826-85G>A - IntronicSNV - 10/10
6-85448103-C-T TBX18 c.1099+112G>A - IntronicSNV - 7/7
2-44774202-C-T CAMKMT c.376+156758C>T - IntronicSNV - 3/10
2-44774202-C-A CAMKMT c.376+156758C>A - IntronicSNV - 3/10
8-8863059-C-G ERI1 c.108+2378C>G - IntronicSNV - 1/6
7-28751137-T-C CREB5 c.444-7233T>C - IntronicSNV - 5/10
7-28751137-T-G CREB5 c.444-7233T>G - IntronicSNV - 5/10
1-51440093-C-T CDKN2C c.*151C>T - 3-UTRSNV 3/3 -
1-51440093-C-A CDKN2C c.*151C>A - 3-UTRSNV 3/3 -
2-178684720-G-C PDE11A c.244+227C>G - IntronicSNV - 4/16
2-178684720-G-A PDE11A c.244+227C>T - IntronicSNV - 4/16
2-36768875-G-A CRIM1 c.2624-2644G>A - IntronicSNV - 14/16
14-103878774-C-A MARK3 c.243+7170C>A - IntronicSNV - 2/17
19-1855583-C-T KLF16 c.458-824G>A - IntronicSNV - 1/1
1-183054827-A-G LAMC1 c.419-17636A>G - IntronicSNV - 1/27
1-183054827-A-C LAMC1 c.419-17636A>C - IntronicSNV - 1/27
10-104791595-C-G CNNM2 c.1622-17869C>G - IntronicSNV - 1/7
10-104791595-C-T CNNM2 c.1622-17869C>T - IntronicSNV - 1/7
3-49898000-A-G CAMKV c.776-18T>C - IntronicSNV - 8/10
11-128577624-G-C FLI1 c.18+13453G>C - IntronicSNV - 1/8
3-196516288-A-C PAK2 c.187+6584A>C - IntronicSNV - 2/14
3-196516288-A-G PAK2 c.187+6584A>G - IntronicSNV - 2/14
3-58374029-A-G PXK c.389-2280A>G - IntronicSNV - 4/17
17-59448945-A-G BCAS3 c.2593+3090A>G - IntronicSNV - 23/23
3-185651001-T-C TRA2B c.36+4612A>G - IntronicSNV - 1/8
18-50818827-C-A DCC c.1912-13121C>A - IntronicSNV - 12/28
10-105577409-G-A SH3PXD2A c.73-16289C>T - IntronicSNV - 1/13
20-62711459-C-T OPRL1 c.-431C>T - 5_prime_UTR_variant 1/5 -
17-63549488-A-C AXIN2 c.816-3710T>G - IntronicSNV - 2/10
17-63549488-A-G AXIN2 c.816-3710T>C - IntronicSNV - 2/10
10-104792400-A-G CNNM2 c.1622-17064A>G - IntronicSNV - 1/7
10-104792400-A-T CNNM2 c.1622-17064A>T - IntronicSNV - 1/7
19-35747663-C-T LSR c.599-2185C>T - IntronicSNV - 2/8
6-2167225-T-C GMDS c.12+8941A>G - IntronicSNV - 1/10
3-12358230-T-A PPARG c.-3+28711T>A - intron_variant - 1/6
3-141266493-G-A RASA2 c.528-6206G>A - IntronicSNV - 5/23
11-69933717-T-C ANO1 c.109-141T>C - IntronicSNV - 1/25
12-110314312-G-A GLTP c.103+3765C>T - IntronicSNV - 1/4
9-119688061-G-A ASTN2 c.1736+49426C>T - IntronicSNV - 9/21
19-18589943-C-T ELL c.136-6251G>A - IntronicSNV - 1/11
5-457261-C-A EXOC3 c.1164+140C>A - IntronicSNV - 5/12
3-183355405-A-G KLHL24 c.-125+1824A>G - intron_variant - 1/7
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
20-25517425-T-G NINL c.1-10202A>C - IntronicSNV - 1/23
5-130613600-T-C CDC42SE2 c.-455+13741T>C - intron_variant - 1/5
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
17-1782952-A-G RPA1 c.1051A>G p.Thr351Ala Missense 11/17 -
16-3796147-T-C CREBBP c.3837-792A>G - IntronicSNV - 21/30
17-19442036-A-T SLC47A1 c.136-3670A>T - IntronicSNV - 1/16
2-33315750-G-C LTBP1 c.864-19899G>C - IntronicSNV - 3/33
11-108288808-G-T C11orf65 c.175-10932C>A - IntronicSNV - 3/8
4-89741269-G-C FAM13A c.29+2858C>G - IntronicSNV - 1/17
4-89741269-G-A FAM13A c.29+2858C>T - IntronicSNV - 1/17
16-10745099-G-T TEKT5 c.1087-15324C>A - IntronicSNV - 5/6
11-45873091-A-C CRY2 c.215+3835A>C - intron_variant - 1/11
12-28600244-C-T CCDC91 c.763-2850C>T - IntronicSNV - 8/12
11-45936035-G-A PEX16 c.542-16C>T - IntronicSNV - 6/10
11-45936035-G-T PEX16 c.542-16C>A - IntronicSNV - 6/10
14-58737766-A-G PSMA3 c.723+50A>G - IntronicSNV - 10/10
14-58737766-A-C PSMA3 c.723+50A>C - IntronicSNV - 10/10
14-58737766-A-T PSMA3 c.723+50A>T - IntronicSNV - 10/10
3-85884150-A-G CADM2 c.217+32804A>G - IntronicSNV - 2/9
12-9082581-A-G PHC1 c.613-450A>G - IntronicSNV - 6/14
7-28205303-T-C JAZF1 c.115+14779A>G - IntronicSNV - 1/4
22-46364161-G-A WNT7B c.71+8403C>T - IntronicSNV - 1/3
2-56096892-A-G EFEMP1 c.1320+963T>C - IntronicSNV - 11/11
10-5254847-A-G AKR1C4 c.681-110A>G - IntronicSNV - 6/8
4-7055253-C-T TADA2B c.271-536C>T - IntronicSNV - 1/1
4-7055253-C-A TADA2B c.271-536C>A - IntronicSNV - 1/1
19-13024250-A-T SYCE2 c.131+4786T>A - IntronicSNV - 2/5
19-13024250-A-C SYCE2 c.131+4786T>G - IntronicSNV - 2/5
2-121612659-G-A GLI2 c.148+57615G>A - IntronicSNV - 2/13
5-173363889-C-T CPEB4 c.1258+4386C>T - IntronicSNV - 3/9
7-93197732-G-C CALCR c.-27+5869C>G - intron_variant - 2/13
5-1284135-C-T TERT c.1574-1396G>A - IntronicSNV - 2/14
22-38129332-G-A TRIOBP c.3975G>A p.Gln1325Gln Synonymous 8/24 -
12-109095137-A-G CORO1C c.1-43T>C - IntronicSNV - 1/10
17-49244747-G-C NME1-NME2 c.471+430G>C - IntronicSNV - 5/7
10-93037409-A-G PCGF5 c.724-617A>G - IntronicSNV - 9/9
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
1-103473494-C-G COL11A1 c.1335+525G>C - IntronicSNV - 13/64
5-55001899-G-A SLC38A9 c.-35+5381C>T - intron_variant - 2/15
3-11646954-G-C VGLL4 c.65-3458C>G - IntronicSNV - 2/5
8-42405155-C-T SMIM19 c.259+1232C>T - IntronicSNV - 3/3
3-132163200-G-T DNAJC13 c.69-2119G>T - IntronicSNV - 2/55
12-2517887-G-A CACNA1C c.478-40255G>A - IntronicSNV - 3/46
22-33056859-C-T SYN3 c.709-64137G>A - IntronicSNV - 6/13
6-127452116-C-T RSPO3 c.97+11682C>T - IntronicSNV - 1/4
20-57472043-A-G GNAS c.212+1304A>G - IntronicSNV - 2/12
15-99194896-C-G IGF1R c.94+1992C>G - IntronicSNV - 1/20
11-13355770-C-T ARNTL c.-135+7756C>T - intron_variant - 3/19
18-46270114-A-G CTIF c.585-14176A>G - IntronicSNV - 7/11
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
11-8913085-G-A ST5 c.-255-10429C>T - intron_variant - 1/22
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
2-223917983-T-A KCNE4 c.588T>A p.Asp196Glu Missense 2/2 -
2-223917983-T-G KCNE4 c.588T>G p.Asp196Glu Missense 2/2 -
7-95169514-G-A ASB4 c.*2443G>A - 3-UTRSNV 5/5 -
22-33056341-T-C SYN3 c.709-63619A>G - IntronicSNV - 6/13
19-46018119-G-A VASP c.6-2802G>A - IntronicSNV - 1/12
1-46024454-G-A AKR1A1 c.1-3013G>A - IntronicSNV - 2/9
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24
16-53803574-T-A FTO c.46-40478T>A - IntronicSNV - 1/8
3-133477701-T-G TF c.1049-318T>G - IntronicSNV - 8/16
6-7804377-T-A BMP6 c.665-40996T>A - IntronicSNV - 1/6
1-103519589-G-A COL11A1 c.651+20585C>T - IntronicSNV - 4/64
1-66089782-C-T LEPR c.2673+1118C>T - IntronicSNV - 19/19
17-7578115-T-G TP53 c.672+62A>C - IntronicSNV - 6/10
2-232982257-A-T DIS3L2 c.602-13072A>T - IntronicSNV - 6/20
12-66351826-T-C HMGA2 c.283-5199T>C - IntronicSNV - 4/4
14-96003198-G-A GLRX5 c.295+1477G>A - IntronicSNV - 1/1
17-64210580-A-C APOH c.973T>G p.Cys325Gly Missense 7/8 -
1-2069172-C-T PRKCZ c.420+2386C>T - IntronicSNV - 5/17
13-41160270-T-C FOXO1 c.631-25273A>G - IntronicSNV - 1/2
6-16288192-G-A GMPR c.697+2126G>A - IntronicSNV - 7/8
6-16288192-G-C GMPR c.697+2126G>C - IntronicSNV - 7/8
18-19450303-A-G MIB1 c.*5676A>G - 3-UTRSNV 21/21 -
2-86993770-A-G RMND5A c.854+623A>G - IntronicSNV - 6/8
6-30711805-C-G IER3 c.379G>C p.Ala127Pro Missense 2/2 -
6-152229850-G-A ESR1 c.760+27944G>A - IntronicSNV - 3/7
20-30306724-T-G BCL2L1 c.564+2734A>C - IntronicSNV - 2/2
20-30306724-T-C BCL2L1 c.564+2734A>G - IntronicSNV - 2/2
2-219903723-C-T CFAP65 c.48G>A p.Val16Val Synonymous 3/35 -
1-47684677-T-C TAL1 c.*715A>G - 3-UTRSNV 6/6 -
1-47684677-T-G TAL1 c.*715A>C - 3-UTRSNV 6/6 -
5-170875097-A-C FGF18 c.251-1054A>C - IntronicSNV - 3/4
2-88924622-T-C EIF2AK3 c.308+1863A>G - IntronicSNV - 1/16
19-3428834-G-C NFIC c.634+3659G>C - IntronicSNV - 3/8
18-60845884-T-C BCL2 c.586-49892A>G - IntronicSNV - 2/2
1-40039707-G-A PABPC4 c.194-1449C>T - IntronicSNV - 1/15
7-100083971-G-A NYAP1 c.69-473G>A - IntronicSNV - 2/6
4-1701317-G-A SLBP c.453C>T p.Tyr151Tyr Synonymous 5/8 -
19-7224431-G-A INSR c.653-39783C>T - IntronicSNV - 2/21
3-114214611-C-A ZBTB20 c.-310+4588G>T - intron_variant - 6/9
15-67414911-T-G SMAD3 c.207-42322T>G - IntronicSNV - 1/8
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
19-33899065-G-A PEPD c.818+3513C>T - IntronicSNV - 11/14
10-18707448-T-C CACNB2 c.168+16476T>C - IntronicSNV - 2/12
17-76121864-A-G TMC6 c.373T>C p.Trp125Arg Missense 5/20 -
11-67207426-G-A CORO1B c.1008-112C>T - IntronicSNV - 8/10
11-67207426-G-C CORO1B c.1008-112C>G - IntronicSNV - 8/10
9-95387983-C-T IPPK c.1171-6136G>A - IntronicSNV - 11/12
2-53964506-A-G GPR75-ASB3 c.470-7799T>C - IntronicSNV - 3/9
19-31047269-A-G ZNF536 c.3896-795A>G - IntronicSNV - 4/4
6-81038921-T-G BCKDHB c.1039-14460T>G - IntronicSNV - 9/10
17-57821430-G-A VMP1 c.414+5122G>A - IntronicSNV - 5/11
20-45597546-T-C EYA2 c.1-21104T>C - IntronicSNV - 1/15
7-92244422-C-T CDK6 c.*32G>A - 3-UTRSNV 8/8 -
15-100761190-T-C ADAMTS17 c.1076-21562A>G - IntronicSNV - 7/21
3-72437413-C-T RYBP c.129-8835G>A - IntronicSNV - 1/3
20-42673848-C-T TOX2 c.286-6098C>T - IntronicSNV - 3/8
6-42932715-C-T PEX6 c.2667-48G>A - IntronicSNV - 15/16
1-74991644-A-G FPGT-TNNI3K c.2694-14274A>G - IntronicSNV - 25/26
1-77951330-A-T AK5 c.1103-663A>T - IntronicSNV - 9/13
7-150816225-T-C AGAP3 c.969+506T>C - IntronicSNV - 7/17
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
7-23475919-G-A IGF2BP3 c.237-17476C>T - IntronicSNV - 2/14
14-74223968-C-A ELMSAN1 c.-248+2498G>T - intron_variant - 1/11
14-74223968-C-G ELMSAN1 c.-248+2498G>C - intron_variant - 1/11
14-74223968-C-T ELMSAN1 c.-248+2498G>A - intron_variant - 1/11
3-169100886-T-C MECOM c.38-1574A>G - IntronicSNV - 1/16
2-43629612-A-G THADA c.4059-4334T>C - IntronicSNV - 28/37
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
12-117365506-G-A FBXW8 c.121-322G>A - IntronicSNV - 1/10
4-83895232-A-G LIN54 c.809-3610T>C - IntronicSNV - 3/12
4-83895232-A-T LIN54 c.809-3610T>A - IntronicSNV - 3/12
11-12698040-A-G TEAD1 c.-55+932A>G - intron_variant - 2/12
22-31813058-A-T DRG1 c.413-3184A>T - IntronicSNV - 4/8
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
3-71256309-C-T FOXP1 c.1-8777G>A - IntronicSNV - 5/20
18-60054857-A-C TNFRSF11A c.*2865A>C - 3-UTRSNV 9/9 -
18-60054857-A-T TNFRSF11A c.*2865A>T - 3-UTRSNV 9/9 -
15-89356832-G-T ACAN c.-8+9792G>T - intron_variant - 1/15
2-113965200-A-T PSD4 c.*6208A>T - IntergenicSNV 17/17 -
2-113965200-A-C PSD4 c.*6208A>C - IntergenicSNV 17/17 -
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
13-109412704-A-G MYO16 c.442-25279A>G - IntronicSNV - 4/34
1-26450009-C-T PDIK1L c.*941C>T - 3-UTRSNV 3/3 -
6-35286295-G-C DEF6 c.1215+47G>C - IntronicSNV - 7/10
6-35286295-G-T DEF6 c.1215+47G>T - IntronicSNV - 7/10
15-76158983-G-A UBE2Q2 c.388-2309G>A - IntronicSNV - 3/12
11-68830628-T-G TPCN2 c.653+170T>G - IntronicSNV - 6/24
15-66070693-C-A DENND4A c.-95+13655G>T - intron_variant - 1/31
15-66070693-C-T DENND4A c.-95+13655G>A - intron_variant - 1/31
7-116358044-A-T MET c.1201-13678A>T - IntronicSNV - 2/20
7-116358044-A-G MET c.1201-13678A>G - IntronicSNV - 2/20
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
4-15603069-G-C CC2D2A c.*21G>C - 3-UTRSNV 38/38 -
4-15603069-G-T CC2D2A c.*21G>T - 3-UTRSNV 38/38 -
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
15-51748610-A-G DMXL2 c.8272-44T>C - IntronicSNV - 36/42
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
2-86987987-G-A RMND5A c.522-4163G>A - IntronicSNV - 4/8
12-48736303-C-A ZNF641 c.*453G>T - 3-UTRSNV 7/7 -
8-135653832-G-T ZFAT c.161-3877C>A - IntronicSNV - 3/16
8-135653832-G-A ZFAT c.161-3877C>T - IntronicSNV - 3/16
17-7363088-T-A ZBTB4 c.*2171A>T - 3-UTRSNV 4/4 -
17-38632761-C-A TNS4 c.*1079G>T - 3-UTRSNV 13/13 -
17-38632761-C-G TNS4 c.*1079G>C - 3-UTRSNV 13/13 -
5-79836192-G-A FAM151B c.672-1300G>A - IntronicSNV - 5/5
12-122461566-G-A BCL7A c.92+1477G>A - IntronicSNV - 1/5
17-7363088-T-C ZBTB4 c.*2171A>G - 3-UTRSNV 4/4 -
10-79611767-A-G DLG5 c.864+1345T>C - IntronicSNV - 5/31
10-79611767-A-C DLG5 c.864+1345T>G - IntronicSNV - 5/31
19-46202172-C-T QPCTL c.886+14C>T - IntronicSNV - 5/6
3-20105673-A-T KAT2B c.304-8152A>T - IntronicSNV - 1/17
13-115027462-T-A CDC16 c.1376+39T>A - IntronicSNV - 15/18
1-203800735-G-C ZC3H11A c.701-54G>C - IntronicSNV - 10/19
12-2523355-A-G CACNA1C c.478-34787A>G - IntronicSNV - 3/46
3-24347800-T-C THRB c.-43+30991A>G - intron_variant - 2/9
16-67876823-A-G THAP11 c.366A>G p.Gln122Gln Synonymous 1/1 -
6-130349119-C-T L3MBTL3 c.-16+5669C>T - intron_variant - 2/22
12-65832468-T-G MSRB3 c.314-15040T>G - IntronicSNV - 4/5
10-104341435-T-C SUFU c.455-10904T>C - IntronicSNV - 3/11
18-46463136-A-T SMAD7 c.742+5715T>A - IntronicSNV - 3/3
10-22871123-G-T PIP4K2A c.493-8737C>A - IntronicSNV - 4/9
15-53946593-A-C WDR72 c.1962+11176T>G - IntronicSNV - 14/19
10-22871123-G-C PIP4K2A c.493-8737C>G - IntronicSNV - 4/9
11-47336320-A-T MADD c.3961-451A>T - IntronicSNV - 26/32
16-28944700-G-T CD19 c.705G>T p.Pro235Pro Synonymous 4/15 -
8-8747894-A-T MFHAS1 c.2675T>A p.Leu892His Missense 1/3 -
16-28944700-G-A CD19 c.705G>A p.Pro235Pro Synonymous 4/15 -
8-8747894-A-G MFHAS1 c.2675T>C p.Leu892Pro Missense 1/3 -
8-8747894-A-C MFHAS1 c.2675T>G p.Leu892Arg Missense 1/3 -
20-33718706-G-A EDEM2 c.844+739C>T - IntronicSNV - 7/10
10-90756065-C-T FAS c.30+5402C>T - IntronicSNV - 1/8
13-96749461-G-A HS6ST3 c.707+5638G>A - IntronicSNV - 1/1
2-232989831-T-G DIS3L2 c.602-5498T>G - IntronicSNV - 6/20
12-56680636-A-G CS c.43-207T>C - IntronicSNV - 1/10
3-132411168-C-T NPHP3 c.2475+330G>A - IntronicSNV - 17/26
20-39797465-T-C PLCG1 c.2438T>C p.Ile813Thr Missense 21/32 -
2-25187599-C-T DNAJC27 c.171-1256G>A - IntronicSNV - 2/6
17-11984232-G-C MAP2K4 c.252-441G>C - IntronicSNV - 3/11
5-67596088-G-C PIK3R1 c.*2659G>C - 3-UTRSNV 10/10 -
5-67596088-G-A PIK3R1 c.*2659G>A - 3-UTRSNV 10/10 -
14-70365924-A-C SMOC1 c.99+19430A>C - IntronicSNV - 1/11
2-169830155-G-A ABCB11 c.1434+70C>T - IntronicSNV - 13/27
11-120257495-A-G ARHGEF12 c.33-19332A>G - IntronicSNV - 1/40
2-43748054-GGGA-GGGAGGGA THADA c.3374+6972_3374+6975dup - IntronicInsertion - 22/37
7-92248076-C-T CDK6 c.699-555G>A - IntronicSNV - 6/7
5-168250903-G-A SLIT3 c.558-567C>T - IntronicSNV - 6/35
3-170717521-T-A SLC2A2 c.1069-566A>T - IntronicSNV - 8/10
15-48914926-A-G FBN1 c.165-9637T>C - IntronicSNV - 2/65
3-169186293-G-A MECOM c.38-86981C>T - IntronicSNV - 1/16
19-50078276-T-C NOSIP c.-2+5496A>G - intron_variant - 1/8
17-40852841-G-C EZH1 c.*1709C>G - 3-UTRSNV 21/21 -
17-40852841-G-A EZH1 c.*1709C>T - 3-UTRSNV 21/21 -
14-70365924-A-G SMOC1 c.99+19430A>G - IntronicSNV - 1/11
12-46249427-T-C ARID2 c.4773+2748T>C - IntronicSNV - 15/20
2-44907331-G-C CAMKMT c.377-24091G>C - IntronicSNV - 3/10
2-44907331-G-A CAMKMT c.377-24091G>A - IntronicSNV - 3/10
2-219557738-G-A STK36 c.2044-225G>A - IntronicSNV - 16/26
2-25463483-G-A DNMT3A c.2173+26C>T - IntronicSNV - 18/22
6-130345835-G-A L3MBTL3 c.-16+2385G>A - intron_variant - 2/22
4-145659064-T-C HHIP c.2058T>C p.Ile686Ile Synonymous 13/13 -
11-10040886-C-T SBF2 c.619+9113G>A - IntronicSNV - 6/39
3-41243742-T-G CTNNB1 c.-49+2581T>G - intron_variant - 1/15
3-38047954-G-C VILL c.2220G>C p.Leu740Phe Missense 18/19 -
16-68733646-G-C CDH3 c.*1343G>C - IntergenicSNV 16/16 -
11-2320884-A-G C11orf21 c.339T>C p.Gly113Gly Synonymous 4/5 -
3-141150026-A-G ZBTB38 c.1-11205A>G - IntronicSNV - 7/7
12-133105852-A-G FBRSL1 c.615+1278A>G - IntronicSNV - 4/16
7-121000718-C-T FAM3C c.383-537G>A - IntronicSNV - 7/9
1-172346548-G-A DNM3 c.1894-1610G>A - IntronicSNV - 17/20
6-160668389-A-G SLC22A2 c.843-59T>C - IntronicSNV - 4/10
4-145568352-T-C HHIP c.279+246T>C - IntronicSNV - 1/12
12-112003695-T-G ATXN2 c.252-9972A>C - intron_variant - 1/24
11-85432420-A-G SYTL2 c.5327-418T>C - intron_variant - 8/19
7-5234662-C-G WIPI2 c.128+1860C>G - IntronicSNV - 2/12
17-5283252-A-G RABEP1 c.2272-407A>G - IntronicSNV - 15/17
1-172141403-A-T DNM3 c.1659+40975A>T - IntronicSNV - 14/20
9-137301866-A-G RXRA c.610+901A>G - IntronicSNV - 4/9
9-113792706-C-A LPAR1 c.-182+7415G>T - intron_variant - 1/4
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
11-63862612-G-A MACROD1 c.517+56099C>T - IntronicSNV - 3/10
20-10644158-A-G JAG1 c.439+453T>C - IntronicSNV - 3/25
2-26357294-C-T RAB10 c.520-513C>T - IntronicSNV - 5/5
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
12-576984-C-T B4GALNT3 c.169+7273C>T - IntronicSNV - 1/19
1-154991389-T-C DCST2 c.2106-153A>G - IntronicSNV - 14/14
10-127673877-C-T FANK1 c.192-3243C>T - IntronicSNV - 2/10
12-123823546-A-G SBNO1 c.648+1989T>C - IntronicSNV - 5/31
15-84580582-A-C ADAMTSL3 c.1701-1262A>C - IntronicSNV - 15/29
8-48885436-T-A MCM4 c.1948T>A p.Leu650Met Missense 13/16 -
1-26872832-G-A RPS6KA1 c.109-526G>A - IntronicSNV - 2/21
17-65870073-C-G BPTF c.1661-860C>G - IntronicSNV - 3/29
3-169100886-T-A MECOM c.38-1574A>T - IntronicSNV - 1/16
8-145037573-T-A PLEC c.193+11772A>T - IntronicSNV - 2/32
11-108306236-C-A C11orf65 c.82-3671G>T - IntronicSNV - 2/8
8-30373040-G-A RBPMS c.397+11087G>A - IntronicSNV - 5/8
1-172355841-C-A DNM3 c.2059-432C>A - IntronicSNV - 18/20
6-16281187-C-T GMPR c.654+2066C>T - IntronicSNV - 6/8
3-141105570-A-G ZBTB38 c.-416-144A>G - intron_variant - 4/7
6-34302869-A-G RPS10-NUDT3 c.567+6770T>C - IntronicSNV - 6/8
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
22-39121252-A-G GTPBP1 c.1074-759A>G - IntronicSNV - 6/11
1-2300557-G-A MORN1 c.745+3363C>T - IntronicSNV - 8/13
6-80956208-C-T BCKDHB c.952-26644C>T - IntronicSNV - 8/10
1-172352990-G-A DNM3 c.2059-3283G>A - IntronicSNV - 18/20
2-208003579-A-G KLF7 c.103-14451T>C - IntronicSNV - 1/3
3-171969077-C-G FNDC3B c.536C>G p.Thr179Ser Missense 6/26 -
11-66826160-C-T RHOD c.132+1655C>T - IntronicSNV - 1/4
8-120596023-A-T ENPP2 c.1477T>A p.Ser493Thr Missense 17/25 -
1-212237798-G-A DTL c.527-461G>A - IntronicSNV - 6/14
3-142233990-T-C ATR c.4503+247A>G - IntronicSNV - 25/46
3-142233990-T-A ATR c.4503+247A>T - IntronicSNV - 25/46
18-46959500-G-C DYM c.1-2736C>G - IntronicSNV - 1/16
18-46959500-G-T DYM c.1-2736C>A - IntronicSNV - 1/16
20-60990162-G-A RBBP8NL c.794+15C>T - IntronicSNV - 9/13
7-672509-G-A PRKAR1B c.441-25420C>T - IntronicSNV - 4/10
17-45013271-T-C GOSR2 c.*625T>C - 3-UTRSNV 5/5 -
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
3-66448307-A-G LRIG1 c.1304+229T>C - IntronicSNV - 11/18
7-8086639-A-G GLCCI1 c.697-8424A>G - IntronicSNV - 3/7
7-8086639-A-T GLCCI1 c.697-8424A>T - IntronicSNV - 3/7
19-52320115-G-C FPR3 c.1-6887G>C - IntronicSNV - 1/1
19-52320115-G-A FPR3 c.1-6887G>A - IntronicSNV - 1/1
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
3-185824004-T-C ETV5 c.1-347A>G - IntronicSNV - 1/12
8-116637685-T-C TRPS1 c.1-1821A>G - IntronicSNV - 1/6
1-119503843-C-G TBX15 c.-114+28135G>C - intron_variant - 1/7
1-119503843-C-A TBX15 c.-114+28135G>T - intron_variant - 1/7
20-60990162-G-T RBBP8NL c.794+15C>A - IntronicSNV - 9/13
2-56113538-G-A EFEMP1 c.518-4669C>T - IntronicSNV - 5/11
8-4827332-T-A CSMD1 c.85+24522A>T - IntronicSNV - 1/69
19-46177235-T-C GIPR c.385-97T>C - IntronicSNV - 5/13
16-28333411-G-A SBK1 c.*1169G>A - 3-UTRSNV 4/4 -
1-172355841-C-T DNM3 c.2059-432C>T - IntronicSNV - 18/20
15-70364352-G-A TLE3 c.372+2520C>T - IntronicSNV - 6/19
10-95895940-A-G PLCE1 c.1492+3724A>G - IntronicSNV - 3/32
1-3684954-C-A CCDC27 c.1743+945C>A - IntronicSNV - 10/11
14-79899454-C-T NRXN3 c.248-34110C>T - IntronicSNV - 1/6
11-128586155-C-A FLI1 c.18+21984C>A - IntronicSNV - 1/8
8-135637337-C-G ZFAT c.412+12367G>C - IntronicSNV - 4/16
14-37477461-A-T SLC25A21 c.71-133252T>A - IntronicSNV - 1/9
1-214627419-C-T PTPN14 c.175-2102G>A - IntronicSNV - 2/18
8-13273477-G-C DLC1 c.1024-14349C>G - IntronicSNV - 2/17
3-178740422-T-G ZMAT3 c.*2383A>C - 3-UTRSNV 7/7 -
3-178740422-T-A ZMAT3 c.*2383A>T - 3-UTRSNV 7/7 -
1-47693220-A-G TAL1 c.-2+1648T>C - intron_variant - 3/5
8-13273477-G-T DLC1 c.1024-14349C>A - IntronicSNV - 2/17
1-11881141-C-A CLCN6 c.346+1530C>A - IntronicSNV - 5/22
1-20916238-G-A CDA c.154+462G>A - IntronicSNV - 1/3
7-23502974-T-A IGF2BP3 c.236+5127A>T - IntronicSNV - 2/14
4-184215675-A-G WWC2 c.3384+4887A>G - IntronicSNV - 21/22
4-184215675-A-T WWC2 c.3384+4887A>T - IntronicSNV - 21/22
3-52540773-T-C STAB1 c.1896T>C p.Gly632Gly Synonymous 18/69 -
1-41556253-C-T SCMH1 c.716-15130G>A - IntronicSNV - 8/15
1-151259043-C-T ZNF687 c.276C>T p.Pro92Pro Synonymous 2/9 -
14-74990746-A-G LTBP2 c.2530+1081T>C - IntronicSNV - 15/35
22-32883282-A-G FBXO7 c.551-450A>G - IntronicSNV - 4/8
4-87976055-G-C AFF1 c.1038+7309G>C - IntronicSNV - 3/19
4-87976055-G-A AFF1 c.1038+7309G>A - IntronicSNV - 3/19
17-73468434-G-A TMEM94 c.24+424G>A - IntronicSNV - 2/31
22-44340904-C-G PNPLA3 c.1217+229C>G - IntronicSNV - 8/8
22-44340904-C-T PNPLA3 c.1217+229C>T - IntronicSNV - 8/8
6-26091179-C-G HFE c.187C>G p.His63Asp Missense 2/6 -
19-35767866-T-C USF2 c.728-1735T>C - IntronicSNV - 7/9
1-79466799-C-T ADGRL4 c.172+3956G>A - IntronicSNV - 2/14
22-31813058-A-G DRG1 c.413-3184A>G - IntronicSNV - 4/8
17-2048713-C-G SMG6 c.633+27239G>C - IntronicSNV - 6/11
17-2048713-C-T SMG6 c.633+27239G>A - IntronicSNV - 6/11
4-41388425-G-C LIMCH1 c.96+25472G>C - IntronicSNV - 1/26
3-48721040-A-G NCKIPSD c.172-595T>C - IntronicSNV - 1/12
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
9-2622278-G-A VLDLR c.82+7G>A - IntronicSNV - 1/18
10-71099888-G-A HK1 c.64-3695G>A - IntronicSNV - 1/17
7-26397239-C-A SNX10 c.25-3356C>A - IntronicSNV - 2/6
11-18560317-G-T UEVLD c.1061-2301C>A - IntronicSNV - 9/10
14-55203126-G-C SAMD4A c.716-616G>C - IntronicSNV - 3/12
3-132226100-A-G DNAJC13 c.5018A>G p.Tyr1673Cys Missense 43/56 -
3-32533010-C-T CMTM6 c.315+192G>A - IntronicSNV - 2/3
21-45080552-A-T RRP1B c.130+877A>T - IntronicSNV - 1/15
2-26928811-G-A KCNK3 c.283+12785G>A - IntronicSNV - 1/1
17-56709034-G-A TEX14 c.137-1119C>T - IntronicSNV - 2/32
4-8608634-C-T CPZ c.1035+9C>T - IntronicSNV - 5/9
5-32772043-A-G NPR3 c.1060-2771A>G - IntronicSNV - 3/7
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
10-97805074-G-A CCNJ c.69+855G>A - IntronicSNV - 2/5
10-126358073-G-A FAM53B c.906+12103C>T - IntronicSNV - 4/4
3-169113110-C-A MECOM c.38-13798G>T - IntronicSNV - 1/16
4-110865468-A-C EGF c.737+243A>C - IntronicSNV - 4/22
4-110865468-A-G EGF c.737+243A>G - IntronicSNV - 4/22
4-145574844-A-G HHIP c.472+895A>G - IntronicSNV - 2/12
11-100593538-G-C ARHGAP42 c.154+34975G>C - IntronicSNV - 1/23
6-31380529-A-T MICA c.*321A>T - IntronicSNV - 5/5
22-30378703-C-T MTMR3 c.210+3662C>T - IntronicSNV - 5/19
17-57821430-G-T VMP1 c.414+5122G>T - IntronicSNV - 5/11
13-29239630-T-C POMP c.162+924T>C - IntronicSNV - 3/5
6-31380529-A-G MICA c.*321A>G - IntronicSNV - 5/5
19-17283303-T-C MYO9B c.1935+16T>C - IntronicSNV - 12/39
1-203655121-A-G ATP2B4 c.193+2595A>G - IntronicSNV - 2/21
8-23173053-A-T LOXL2 c.1636+1409T>A - IntronicSNV - 9/13
8-23173053-A-G LOXL2 c.1636+1409T>C - IntronicSNV - 9/13
8-21779937-C-G XPO7 c.18+2638C>G - IntronicSNV - 1/27
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
15-44720011-C-T CTDSPL2 c.-25+41C>T - intron_variant - 1/12
17-56709034-G-C TEX14 c.137-1119C>G - IntronicSNV - 2/32
17-56436109-C-T RNF43 c.1028G>A p.Arg343His Missense 9/10 -
17-43216281-C-T ACBD4 c.650-107C>T - IntronicSNV - 7/8
1-158586966-A-T SPTA1 c.6600+361T>A - IntronicSNV - 47/51
1-78512566-T-A GIPC2 c.240+548T>A - IntronicSNV - 1/5
6-31106459-C-T PSORS1C1 c.70C>T p.Pro24Ser Missense 5/6 -
6-31106459-C-A PSORS1C1 c.70C>A p.Pro24Thr Missense 5/6 -
7-2795957-A-G GNA12 c.526-22822T>C - IntronicSNV - 2/3
1-203655121-A-T ATP2B4 c.193+2595A>T - IntronicSNV - 2/21
15-76158983-G-T UBE2Q2 c.388-2309G>T - IntronicSNV - 3/12
14-21545251-A-G ARHGEF40 c.1-1293A>G - IntronicSNV 3/24 -
12-14520701-A-G ATF7IP c.-8+1940A>G - intron_variant - 1/14
10-121129797-G-T GRK5 c.149-10530G>T - IntronicSNV - 2/15
10-121129797-G-A GRK5 c.149-10530G>A - IntronicSNV - 2/15
1-119574587-C-T WARS2 c.*947G>A - 3-UTRSNV 6/6 -
5-173363667-G-T CPEB4 c.1258+4164G>T - IntronicSNV - 3/9
6-108977663-T-C FOXO3 c.622-6995T>C - IntronicSNV - 1/2
1-77967507-T-A AK5 c.1147+15470T>A - IntronicSNV - 10/13
6-2050791-A-C GMDS c.255+65214T>G - IntronicSNV - 4/10
3-50129399-C-T RBM5 c.18-77C>T - IntronicSNV - 2/24
15-76293971-A-G NRG4 c.104+7570T>C - IntronicSNV - 3/5
2-233087483-T-G DIS3L2 c.1204+12368T>G - IntronicSNV - 10/20
2-233087483-T-C DIS3L2 c.1204+12368T>C - IntronicSNV - 10/20
2-211540489-C-A CPS1 c.4217C>A p.Ala1406Asp Missense 37/39 -
20-34432670-A-G PHF20 c.255+2004A>G - IntronicSNV - 3/17
20-34432670-A-T PHF20 c.255+2004A>T - IntronicSNV - 3/17
8-41630405-G-A ANK1 c.28-14750C>T - IntronicSNV - 1/41
22-37462936-A-G TMPRSS6 c.2207T>C p.Val736Ala Missense 17/18 -
16-30103160-C-A TBX6 c.-49+34G>T - intron_variant - 1/8
9-139341612-T-C SEC16A c.6697+67A>G - IntronicSNV - 27/31
1-248039451-C-T TRIM58 c.1121C>T p.Thr374Met Missense 6/6 -
19-19591066-A-G GATAD2A c.270-12049A>G - IntronicSNV - 2/11
16-170328-C-T NPRL3 c.1-7698G>A - IntronicSNV - 2/11
12-2522981-A-G CACNA1C c.478-35161A>G - IntronicSNV - 3/46
4-18010384-A-G LCORL c.154+12837T>C - IntronicSNV - 1/6
10-46009818-C-A MARCH8 c.102+18740G>T - IntronicSNV - 2/6
2-98333290-T-C ZAP70 c.-22+2833T>C - intron_variant - 2/13
3-52532118-A-T STAB1 c.78+2611A>T - IntronicSNV - 1/68
1-79466799-C-A ADGRL4 c.172+3956G>T - IntronicSNV - 2/14
12-122494809-T-C BCL7A c.561+1977T>C - IntronicSNV - 5/5
6-7232389-C-T RREB1 c.3808+249C>T - IntronicSNV - 10/11
2-42462930-A-G EML4 c.26-9715A>G - IntronicSNV - 1/22
20-47772264-A-G STAU1 c.206-1656T>C - IntronicSNV - 3/13
4-123835656-C-A NUDT6 c.443-1878G>T - IntronicSNV - 2/4
2-164567689-T-C FIGN c.25+23724A>G - IntronicSNV - 2/2
9-16455833-G-C BNC2 c.667-18311C>G - intron_variant - 4/5
9-16455833-G-A BNC2 c.667-18311C>T - intron_variant - 4/5
2-219154781-G-A TMBIM1 c.-41+2408C>T - intron_variant - 1/11
5-72201058-G-A TNPO1 c.2590-72G>A - IntronicSNV - 23/24
22-43114551-G-A A4GALT c.-188+2252C>T - intron_variant - 1/2
8-116495909-T-A TRPS1 c.2701-65229A>T - IntronicSNV - 5/6
1-53309097-A-G ZYG11A c.90+452A>G - IntronicSNV - 1/13
19-2136102-T-C AP3D1 c.354+908A>G - IntronicSNV - 4/31
11-8899528-A-G ST5 c.-156+3029T>C - intron_variant - 2/22
11-8673939-C-G TRIM66 c.1-584G>C - IntronicSNV - 1/19
14-37708019-T-A MIPOL1 c.1-9075T>A - IntronicSNV - 1/13
17-42294337-A-C UBTF c.59-265T>G - IntronicSNV - 2/20
1-203650945-C-G ATP2B4 c.1-1389C>G - IntronicSNV - 1/21
2-54966407-A-G EML6 c.197+14012A>G - IntronicSNV - 1/40
2-26357748-G-T RAB10 c.520-59G>T - IntronicSNV - 5/5
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
18-43831259-A-G C18orf25 c.899-2404A>G - IntronicSNV - 3/4
10-52762887-T-C PRKG1 c.266+11483T>C - IntronicSNV - 1/17
18-60845884-T-A BCL2 c.586-49892A>T - IntronicSNV - 2/2
19-47569003-G-A ZC3H4 c.*610C>T - 3-UTRSNV 15/15 -
2-241818527-A-G AGXT c.*289A>G - 3-UTRSNV 11/11 -
14-21890683-C-G CHD8 c.879+3604G>C - IntronicSNV - 5/37
7-151406005-C-T PRKAG2 c.467-33282G>A - IntronicSNV - 3/15
12-15332342-G-C RERG c.61+38021C>G - IntronicSNV - 2/4
2-9662210-G-T ADAM17 c.844-765C>A - IntronicSNV - 7/18
1-170649277-C-T PRRX1 c.241+15677C>T - IntronicSNV - 1/4
1-170649277-C-A PRRX1 c.241+15677C>A - IntronicSNV - 1/4
9-119129257-T-C PAPPA c.4496-667T>C - IntronicSNV - 18/21
9-119129257-T-A PAPPA c.4496-667T>A - IntronicSNV - 18/21
9-119129257-T-G PAPPA c.4496-667T>G - IntronicSNV - 18/21
5-90151589-G-A ADGRV1 c.17626G>A p.Val5876Ile Missense 82/90 -
3-47061183-G-A SETD2 c.7431+67C>T - IntronicSNV - 19/20
3-47061183-G-C SETD2 c.7431+67C>G - IntronicSNV - 19/20
3-24211250-C-G THRB c.284-17269G>C - IntronicSNV - 4/9
15-100513158-C-T ADAMTS17 c.*1449G>A - 3-UTRSNV 22/22 -
1-46432105-A-G MAST2 c.592+6956A>G - IntronicSNV - 5/28
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
3-53134098-T-C RFT1 c.1103-596A>G - IntronicSNV - 10/12
11-64031798-G-C PLCB3 c.2652+214G>C - IntronicSNV - 22/30
20-44570192-C-T PCIF1 c.673+346C>T - IntronicSNV - 7/16
6-7213016-G-A RREB1 c.707+1074G>A - IntronicSNV - 8/11
15-41796498-T-A LTK c.1956+42A>T - IntronicSNV - 17/17
11-13357183-G-A ARNTL c.-135+9169G>A - intron_variant - 3/19
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
9-129460914-A-G LMX1B c.*2184A>G - 3-UTRSNV 8/8 -
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
9-129460914-A-T LMX1B c.*2184A>T - 3-UTRSNV 8/8 -
13-78474468-A-C EDNRB c.1085+188T>G - IntronicSNV - 6/7
1-46073489-G-A NASP c.906G>A p.Pro302Pro Synonymous 6/15 -
2-33315750-G-T LTBP1 c.864-19899G>T - IntronicSNV - 3/33
11-47650993-C-T MTCH2 c.540-395G>A - IntronicSNV - 8/12
10-126752234-T-A CTBP2 c.1-24611A>T - IntronicSNV - 1/10
17-38632761-C-T TNS4 c.*1079G>A - 3-UTRSNV 13/13 -
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
3-170727218-G-A SLC2A2 c.496+529C>T - IntronicSNV - 4/10
16-4445327-C-T CORO7-PAM16 c.578G>A p.Arg193Gln Missense 7/31 -
6-116451442-A-G NT5DC1 c.529+12334A>G - IntronicSNV - 6/11
1-21583311-T-C ECE1 c.829-680A>G - IntronicSNV - 7/18
2-118579085-A-G DDX18 c.651-141A>G - IntronicSNV - 4/13
16-75328308-T-C CFDP1 c.810-368A>G - IntronicSNV - 6/6
13-28015542-G-C MTIF3 c.1-957C>G - IntronicSNV - 1/4
16-88777242-C-A CTU2 c.282+552C>A - IntronicSNV - 4/13
4-56399648-T-C CLOCK c.-290+13301A>G - intron_variant - 1/22
1-85988158-C-T DDAH1 c.-122-26194G>A - intron_variant - 1/6
14-65487694-T-C CHURC1-FNTB c.236+5260T>C - IntronicSNV - 5/12
9-99161512-C-G ZNF367 c.421-916G>C - IntronicSNV - 1/4
5-133898136-C-T JADE2 c.852+79C>T - IntronicSNV - 7/10
5-133898136-C-G JADE2 c.852+79C>G - IntronicSNV - 7/10
16-2488211-T-G CCNF c.594+87T>G - IntronicSNV - 6/16
16-2488211-T-C CCNF c.594+87T>C - IntronicSNV - 6/16
5-42436916-A-C GHR c.-12+12859A>C - intron_variant - 1/9
5-42436916-A-G GHR c.-12+12859A>G - intron_variant - 1/9
20-30387992-G-T TPX2 c.2134-781G>T - IntronicSNV - 17/17
2-63053048-G-A EHBP1 c.313-174G>A - IntronicSNV - 5/24
5-118729286-C-T TNFAIP8 c.*210C>T - 3-UTRSNV 2/2 -
1-23840570-T-C E2F2 c.1045+2257A>G - IntronicSNV - 6/6
7-12276522-G-A TMEM106B c.*4921G>A - 3-UTRSNV 9/9 -
7-12276522-G-T TMEM106B c.*4921G>T - 3-UTRSNV 9/9 -
17-47390014-G-C ZNF652 c.1048+46C>G - IntronicSNV - 3/5
17-47390014-G-A ZNF652 c.1048+46C>T - IntronicSNV - 3/5
9-4844265-T-C RCL1 c.711-260T>C - IntronicSNV - 6/8
4-123835656-C-T NUDT6 c.443-1878G>A - IntronicSNV - 2/4
6-131327956-G-A EPB41L2 c.1-50331C>T - IntronicSNV - 1/14
6-131327956-G-T EPB41L2 c.1-50331C>A - IntronicSNV - 1/14
2-219349752-C-T USP37 c.1670+635G>A - IntronicSNV - 16/25
18-74983055-A-G GALR1 c.*2197A>G - IntergenicSNV 3/3 -
7-1058193-G-A C7orf50 c.130-8414C>T - IntronicSNV - 2/4
5-37046626-A-T NIPBL c.6589+325A>T - IntronicSNV - 38/45
1-11278813-G-C MTOR c.3031-2522C>G - IntronicSNV - 19/57
10-124171857-T-C PLEKHA1 c.343-579T>C - IntronicSNV - 5/11
13-73567191-G-A PIBF1 c.2050-5769G>A - IntronicSNV - 16/17
12-123822711-G-A SBNO1 c.649-1673C>T - IntronicSNV - 5/31
2-114653871-A-T ACTR3 c.44+5971A>T - IntronicSNV - 1/11
3-85807590-T-G CADM2 c.67+31892T>G - IntronicSNV - 1/9
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
19-3434028-A-C NFIC c.710-247A>C - IntronicSNV - 4/8
19-3434028-A-T NFIC c.710-247A>T - IntronicSNV - 4/8
14-75626131-T-C TMED10 c.226-7285A>G - IntronicSNV - 1/4
2-20151819-G-C WDR35 c.1401-574C>G - IntronicSNV - 12/26
19-3428834-G-A NFIC c.634+3659G>A - IntronicSNV - 3/8
12-53778650-G-T SP1 c.1531+1244G>T - IntronicSNV - 3/5
9-18629792-G-A ADAMTSL1 c.602-6149G>A - IntronicSNV - 5/28
11-2810731-C-T KCNQ1 c.1794+11464C>T - IntronicSNV - 15/15
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
15-89395626-A-G ACAN c.2266+362A>G - IntronicSNV - 11/15
10-45966422-G-A MARCH8 c.154-6647C>T - IntronicSNV - 3/6
19-44248878-A-G SMG9 c.701+46T>C - IntronicSNV - 6/13
20-35544673-A-G SAMHD1 c.1062+452T>C - IntronicSNV - 9/15
7-15721178-C-T MEOX2 c.517+4333G>A - IntronicSNV - 1/2
7-15721178-C-A MEOX2 c.517+4333G>T - IntronicSNV - 1/2
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
16-89875710-A-C FANCA c.523-935T>G - IntronicSNV - 5/42
14-56111707-G-A KTN1 c.2173-1984G>A - IntronicSNV - 18/43
8-141876287-C-G PTK2 c.429-1789G>C - IntronicSNV - 4/31
16-4021734-A-G ADCY9 c.2870+2936T>C - IntronicSNV - 10/10
21-38072356-G-C SIM2 c.175+135G>C - IntronicSNV - 1/9
5-54955071-T-A SLC38A9 c.698-2469A>T - IntronicSNV - 8/15
7-151413194-T-C PRKAG2 c.467-40471A>G - IntronicSNV - 3/15
17-73368985-A-G GRB2 c.78+20647T>C - IntronicSNV - 2/5
1-205041952-C-G CNTN2 c.2844+229C>G - IntronicSNV - 21/22
1-205041952-C-T CNTN2 c.2844+229C>T - IntronicSNV - 21/22
16-81589983-A-T CMIP c.19-51189A>T - IntronicSNV - 1/20
17-59456589-C-T BCAS3 c.2593+10734C>T - IntronicSNV - 23/23
5-127696022-A-C FBN2 c.2554+1394T>G - IntronicSNV - 19/64
6-122811850-T-C PKIB c.-248+8439T>C - intron_variant - 3/7
20-32304653-C-G PXMP4 c.114-2111G>C - IntronicSNV - 1/3
7-17919258-G-T SNX13 c.441-3845C>A - IntronicSNV - 5/25
7-17919258-G-A SNX13 c.441-3845C>T - IntronicSNV - 5/25
1-155178782-A-T MTX1 c.187A>T p.Thr63Ser Missense 1/7 -
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
4-145919657-T-A ANAPC10 c.328-2902A>T - IntronicSNV - 4/4
6-126216403-C-G NCOA7 c.2096+4447C>G - IntronicSNV - 11/16
3-61236462-C-T FHIT c.-213+513G>A - intron_variant - 1/9
10-126752234-T-C CTBP2 c.1-24611A>G - IntronicSNV - 1/10
3-24348008-T-C THRB c.-43+30783A>G - intron_variant - 2/9
12-13046211-C-T GPRC5A c.-8+1613C>T - intron_variant - 1/3
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
2-208003579-A-T KLF7 c.103-14451T>A - IntronicSNV - 1/3
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
1-158604143-G-A SPTA1 c.5565+190C>T - IntronicSNV - 39/51
15-89388905-C-T ACAN c.1221C>T p.Val407Val Synonymous 7/16 -
1-118492052-T-C WDR3 c.1525-322T>C - IntronicSNV - 13/26
6-2096081-T-C GMDS c.255+19924A>G - IntronicSNV - 4/10
1-229738236-G-A TAF5L c.678C>T p.Pro226Pro Synonymous 4/5 -
6-117868051-T-C DCBLD1 c.1615+1291T>C - IntronicSNV - 14/14
12-124440110-C-T CCDC92 c.1-11258G>A - IntronicSNV - 1/4
12-124440110-C-A CCDC92 c.1-11258G>T - IntronicSNV - 1/4
7-2801803-C-T GNA12 c.526-28668G>A - IntronicSNV - 2/3
9-35808334-C-G NPR2 c.2713-172C>G - IntronicSNV - 18/21
9-35808334-C-A NPR2 c.2713-172C>A - IntronicSNV - 18/21
16-31129895-A-G KAT8 c.211+682A>G - IntronicSNV - 1/10
3-52532118-A-G STAB1 c.78+2611A>G - IntronicSNV - 1/68
16-2336394-T-C ABCA3 c.3278+301A>G - IntronicSNV - 22/32
13-72347696-A-C DACH1 c.855-91654T>G - IntronicSNV - 1/6
14-103878774-C-G MARK3 c.243+7170C>G - IntronicSNV - 2/17
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
19-7184762-A-G INSR c.653-114T>C - IntronicSNV - 2/21
1-43415346-G-A SLC2A1 c.19-6354C>T - IntronicSNV - 1/9
1-43415346-G-T SLC2A1 c.19-6354C>A - IntronicSNV - 1/9
6-111529453-A-T SLC16A10 c.1086+1515A>T - IntronicSNV - 4/5
17-57825572-A-C VMP1 c.414+9264A>C - IntronicSNV - 5/11
3-133467377-T-A TF c.165T>A p.Ser55Arg Missense 2/17 -
15-100759614-C-T ADAMTS17 c.1076-19986G>A - IntronicSNV - 7/21
15-100759614-C-A ADAMTS17 c.1076-19986G>T - IntronicSNV - 7/21
5-168256240-G-A SLIT3 c.558-5904C>T - IntronicSNV - 6/35
15-75116167-C-T LMAN1L c.1323+144C>T - IntronicSNV - 12/13
3-72455355-C-A RYBP c.129-26777G>T - IntronicSNV - 1/3
7-20381674-G-A ITGB8 c.127+10118G>A - IntronicSNV - 1/13
11-2320013-C-T C11orf21 c.*673G>A - IntronicSNV - 4/4
2-62357544-C-G COMMD1 c.463-5422C>G - IntronicSNV - 2/2
2-62357544-C-A COMMD1 c.463-5422C>A - IntronicSNV - 2/2
1-176794066-G-A PAPPA2 c.5203-15243G>A - IntronicSNV - 21/22
2-165548569-G-A COBLL1 c.3414+162C>T - IntronicSNV - 13/13
3-72455355-C-T RYBP c.129-26777G>A - IntronicSNV - 1/3
2-232989831-T-C DIS3L2 c.602-5498T>C - IntronicSNV - 6/20
2-121995638-G-C TFCP2L1 c.861-212C>G - IntronicSNV - 8/14
9-140100317-C-G NDOR1 c.88C>G p.Arg30Gly Missense 1/14 -
19-41204070-G-A COQ8B c.1143+1902C>T - IntronicSNV - 12/14
17-65870073-C-T BPTF c.1661-860C>T - IntronicSNV - 3/29
1-218609702-A-T TGFB2 c.932+213A>T - IntronicSNV - 5/6
1-218609702-A-G TGFB2 c.932+213A>G - IntronicSNV - 5/6
6-152345162-G-A ESR1 c.1235+12233G>A - IntronicSNV - 5/7
10-69937192-A-G MYPN c.2703+1974A>G - IntronicSNV - 12/19
10-69937192-A-C MYPN c.2703+1974A>C - IntronicSNV - 12/19
13-113875080-C-T CUL4A c.68+1718C>T - IntronicSNV - 3/19
6-131353680-T-C EPB41L2 c.-15+30615A>G - intron_variant - 1/14
7-5234662-C-T WIPI2 c.128+1860C>T - IntronicSNV - 2/12
12-53645885-T-C MFSD5 c.-186T>C - 5_prime_UTR_variant 1/2 -
1-79466799-C-G ADGRL4 c.172+3956G>C - IntronicSNV - 2/14
5-32789852-T-C NPR3 c.*3401T>C - 3-UTRSNV 8/8 -
1-203655121-A-C ATP2B4 c.193+2595A>C - IntronicSNV - 2/21
4-144442611-T-A SMARCA5 c.282T>A p.Tyr94* Nonsense 3/24 -
4-103188709-C-A SLC39A8 c.1171G>T p.Ala391Ser Missense 7/8 -
18-46463136-A-G SMAD7 c.742+5715T>C - IntronicSNV - 3/3
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
2-46360907-G-C PRKCE c.1593-11325G>C - IntronicSNV - 11/14
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
17-61845425-T-A CCDC47 c.1-1890A>T - IntronicSNV - 1/12
17-61845425-T-C CCDC47 c.1-1890A>G - IntronicSNV - 1/12
4-144442611-T-C SMARCA5 c.282T>C p.Tyr94Tyr Synonymous 3/24 -
19-4119012-A-G MAP2K2 c.93-1385T>C - IntronicSNV - 1/10
11-47294626-T-C MADD c.1-840T>C - IntronicSNV - 1/32
4-103188709-C-T SLC39A8 c.1171G>A p.Ala391Thr Missense 7/8 -
2-174815898-A-C SP3 c.1639+3703T>G - IntronicSNV - 4/6
16-69887707-C-G WWP2 c.575+11684C>G - IntronicSNV - 7/24
11-31424823-T-C DNAJC24 c.112-11535T>C - IntronicSNV - 2/4
15-100761190-T-A ADAMTS17 c.1076-21562A>T - IntronicSNV - 7/21
2-207999713-G-A KLF7 c.103-10585C>T - IntronicSNV - 1/3
3-142120786-C-T XRN1 c.2104-1397G>A - IntronicSNV - 18/41
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
4-88044336-G-A AFF1 c.2446-1853G>A - IntronicSNV - 11/19
17-36929578-C-T PIP4K2B c.808-2053G>A - IntronicSNV - 7/9
10-114758349-C-T TCF7L2 c.382-41435C>T - IntronicSNV - 3/13
10-114758349-C-G TCF7L2 c.382-41435C>G - IntronicSNV - 3/13
8-30279453-A-G RBPMS c.66+36779A>G - IntronicSNV - 1/8
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
7-28189946-A-G JAZF1 c.115+30136T>C - IntronicSNV - 1/4
19-16241886-G-A RAB8A c.532-1136G>A - IntronicSNV - 7/7
10-95895177-G-C PLCE1 c.1492+2961G>C - IntronicSNV - 3/32
10-95895177-G-A PLCE1 c.1492+2961G>A - IntronicSNV - 3/32
2-241818527-A-C AGXT c.*289A>C - 3-UTRSNV 11/11 -
16-20880040-A-T DCUN1D3 c.1-6180T>A - IntronicSNV - 1/2
3-69811900-C-T MITF c.104+23048C>T - IntronicSNV - 1/9
17-64302652-G-A PRKCA c.205+407G>A - IntronicSNV - 2/16
7-5268516-C-G WIPI2 c.1121+674C>G - IntronicSNV - 11/12
7-5268516-C-A WIPI2 c.1121+674C>A - IntronicSNV - 11/12
10-104939215-T-C NT5C2 c.-25+1773A>G - intron_variant - 2/18
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
20-30387992-G-C TPX2 c.2134-781G>C - IntronicSNV - 17/17
20-43516156-G-A YWHAB c.-98-133G>A - intron_variant - 1/6
9-78759705-T-A PCSK5 c.1312+10577T>A - IntronicSNV - 10/36
2-242262986-G-A SEPT2 c.1-662G>A - IntronicSNV - 1/12
10-124171857-T-A PLEKHA1 c.343-579T>A - IntronicSNV - 5/11
11-43864278-T-C HSD17B12 c.684+2664T>C - IntronicSNV - 9/10
11-8862530-G-A ST5 c.-155-1633C>T - intron_variant - 2/22
18-13094132-G-A CEP192 c.6255-1370G>A - IntronicSNV - 34/44
16-163598-G-A NPRL3 c.1-968C>T - IntronicSNV - 2/11
16-67384226-A-T LRRC36 c.577+33A>T - IntronicSNV - 5/13
16-67384226-A-G LRRC36 c.577+33A>G - IntronicSNV - 5/13
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
16-20880040-A-G DCUN1D3 c.1-6180T>C - IntronicSNV - 1/2
3-114697457-C-G ZBTB20 c.-561-4194G>C - intron_variant - 1/9
9-136131188-C-T ABO c.927G>A - synonymous_variant 8/8 -
4-17936634-T-C LCORL c.431-25666A>G - IntronicSNV - 4/6
13-32963707-C-T BRCA2 c.9257-5119C>T - IntronicSNV - 24/26
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
1-120264823-C-G PHGDH c.290+879C>G - IntronicSNV - 2/11
18-46657358-C-T DYM c.1564-12062G>A - IntronicSNV - 14/16
12-15332342-G-A RERG c.61+38021C>T - IntronicSNV - 2/4
11-92708710-C-G MTNR1B c.223+5596C>G - IntronicSNV - 1/1
2-25483121-G-A DNMT3A c.640-12000C>T - IntronicSNV - 6/22
4-145592686-G-A HHIP c.831+11696G>A - IntronicSNV - 4/12
17-47875333-G-A KAT7 c.341-348G>A - IntronicSNV - 3/14
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
16-3627358-C-T NLRC3 c.-377G>A - 5_prime_UTR_variant 1/21 -
3-133476769-C-T TF c.1027C>T p.Arg343Trp Missense 8/17 -
9-4849647-T-C RCL1 c.971+97T>C - IntronicSNV - 8/8
12-349298-C-T SLC6A13 c.479-2122G>A - IntronicSNV - 4/14
14-102907653-C-T TECPR2 c.2752+707C>T - IntronicSNV - 11/19
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
8-135612595-A-G ZFAT c.2439+84T>C - IntronicSNV - 8/16
11-10178437-T-C SBF2 c.141+37012A>G - IntronicSNV - 2/39
9-123381222-C-T MEGF9 c.943+3672G>A - IntronicSNV - 3/5
11-57004344-G-T APLNR c.135C>A p.Gly45Gly Synonymous 1/1 -
20-36989096-G-A LBP c.589-262G>A - IntronicSNV - 5/14
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
18-672035-C-T TYMS c.804+584C>T - IntronicSNV - 6/6
17-8161149-C-T PFAS c.1100C>T p.Pro367Leu Missense 10/28 -
6-31616366-G-A BAG6 c.552+88C>T - IntronicSNV - 6/24
9-98266370-A-G PTCH1 c.394+2319T>C - IntronicSNV - 2/23
9-98266370-A-C PTCH1 c.394+2319T>G - IntronicSNV - 2/23
19-47596131-T-C ZC3H4 c.492+1096A>G - IntronicSNV - 4/14
1-203654085-G-A ATP2B4 c.193+1559G>A - IntronicSNV - 2/21
15-76298744-A-G NRG4 c.104+2797T>C - IntronicSNV - 3/5
10-28478492-C-A MPP7 c.156+12590G>T - IntronicSNV - 5/18
9-136929586-C-T BRD3 c.-114+3481G>A - intron_variant - 1/11
7-69784313-A-T AUTS2 c.661-116425A>T - IntronicSNV - 4/17
11-65351364-G-A EHBP1L1 c.3093+128G>A - IntronicSNV - 9/18
9-131042734-T-G SWI5 c.426+3700T>G - IntronicSNV - 2/4
20-45558831-A-G EYA2 c.-11+35205A>G - intron_variant - 1/15
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
6-16294722-C-G GMPR c.858-515C>G - IntronicSNV - 8/8
4-87973668-C-T AFF1 c.1038+4922C>T - IntronicSNV - 3/19
17-62007498-A-G CD79B c.366T>C p.Cys122Cys Synonymous 3/6 -
7-120777619-G-A CPED1 c.1699+1475G>A - IntronicSNV - 14/22
12-57146069-T-G PRIM1 c.14A>C p.Asp5Ala Missense 1/13 -
15-75332485-A-G PPCDC c.136-3297A>G - IntronicSNV - 2/5
15-75332485-A-T PPCDC c.136-3297A>T - IntronicSNV - 2/5
6-109783941-A-G ZBTB24 c.*3113T>C - 3-UTRSNV 7/7 -
6-152157881-C-T ESR1 c.453-5851C>T - IntronicSNV - 1/7
11-57069056-A-G TNKS1BP1 c.4971+225T>C - IntronicSNV - 9/11
3-52506426-C-T NISCH c.669+12C>T - IntronicSNV - 6/20
22-28181399-C-A MN1 c.3781+11352G>T - IntronicSNV - 1/1
2-136608646-G-A MCM6 c.1917+326C>T - IntronicSNV - 13/16
2-136608646-G-C MCM6 c.1917+326C>G - IntronicSNV - 13/16
17-67081278-A-G ABCA6 c.4075T>C p.Cys1359Arg Missense 32/39 -
1-46432105-A-C MAST2 c.592+6956A>C - IntronicSNV - 5/28
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
1-161485259-G-T FCGR2A c.777+1537G>T - IntronicSNV - 6/6
3-52833805-C-A ITIH3 c.943C>A p.Gln315Lys Missense 9/22 -
1-243618317-G-T SDCCAG8 c.1985+28457G>T - IntronicSNV - 16/17
2-219949184-C-T NHEJ1 c.589-6256G>A - IntronicSNV - 5/7
8-8863059-C-T ERI1 c.108+2378C>T - IntronicSNV - 1/6
3-136107549-G-A STAG1 c.2277+10042C>T - IntronicSNV - 22/33
13-113853035-A-G PCID2 c.127-457T>C - IntronicSNV - 2/14
1-15845197-G-A CASP9 c.1-424C>T - IntronicSNV - 1/8
10-45972119-A-C MARCH8 c.154-12344T>G - IntronicSNV - 3/6
11-17351683-C-G NUCB2 c.1012C>G p.Gln338Glu Missense 12/14 -
22-35711098-A-G TOM1 c.53-2772A>G - IntronicSNV - 1/14
1-15845197-G-C CASP9 c.1-424C>G - IntronicSNV - 1/8
3-185488882-G-A IGF2BP2 c.239+52059C>T - IntronicSNV - 2/15
7-27223771-C-T HOXA11 c.709+284G>A - IntronicSNV - 1/1
4-122751061-G-A BBS7 c.1677-1178C>T - IntronicSNV - 15/17
3-169121931-A-T MECOM c.38-22619T>A - IntronicSNV - 1/16
8-131442851-T-C ASAP1 c.-28+12855A>G - intron_variant - 1/29
20-21180259-C-T KIZ c.1353-5871C>T - IntronicSNV - 6/13
11-73009084-G-A P2RY6 c.*534G>A - 3-UTRSNV 3/3 -
7-50427982-G-A IKZF1 c.161-16249G>A - intron_variant - 3/7
6-7792947-T-C BMP6 c.665-52426T>C - IntronicSNV - 1/6
15-72842705-G-A ARIH1 c.589-4907G>A - IntronicSNV - 3/13
2-23901362-A-G KLHL29 c.941-5907A>G - IntronicSNV - 5/13
2-23901362-A-C KLHL29 c.941-5907A>C - IntronicSNV - 5/13
16-67213923-C-T KIAA0895L c.570+21G>A - IntronicSNV - 2/6
15-75321262-T-C PPCDC c.135+468T>C - IntronicSNV - 2/5
2-232322779-G-A NCL c.1289+198C>T - IntronicSNV - 8/13
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
19-41922352-A-G BCKDHA c.484+2290A>G - IntronicSNV - 4/8
7-99817196-G-T PVRIG c.1-338G>T - IntronicSNV - 1/5
7-99817196-G-A PVRIG c.1-338G>A - IntronicSNV - 1/5
10-17204944-T-C TRDMT1 c.252-708A>G - IntronicSNV - 3/10
16-3192651-T-C ZNF213 c.*1303T>C - 3-UTRSNV 6/6 -
17-45811354-C-G TBX21 c.491+43C>G - IntronicSNV - 1/5
1-75002193-G-A FPGT-TNNI3K c.2694-3725G>A - IntronicSNV - 25/26
1-218615451-A-C TGFB2 c.*747A>C - 3-UTRSNV 7/7 -
11-61569830-C-T FADS1 c.*53G>A - 3-UTRSNV 12/12 -
12-52466182-C-T ATG101 c.1-1253C>T - IntronicSNV - 2/3
12-107174646-A-C RIC8B c.85-3129A>C - IntronicSNV - 1/8
8-25298710-G-A KCTD9 c.215-521C>T - IntronicSNV - 3/11
17-68090207-C-A KCNJ16 c.-275-6592C>A - intron_variant - 1/4
9-118921327-G-C PAPPA c.415+4461G>C - IntronicSNV - 1/21
9-118921327-G-T PAPPA c.415+4461G>T - IntronicSNV - 1/21
5-179731014-T-C GFPT2 c.1842+758A>G - IntronicSNV - 17/18
2-136187345-C-T ZRANB3 c.162-38955G>A - IntronicSNV - 2/20
3-51192126-G-C DOCK3 c.829-4549G>C - IntronicSNV - 10/52
3-51192126-G-A DOCK3 c.829-4549G>A - IntronicSNV - 10/52
2-27730940-T-C GCKR c.1337T>C p.Leu446Pro Missense 15/19 -
6-50803050-A-G TFAP2B c.602-724A>G - IntronicSNV - 3/6
9-98256235-T-G PTCH1 c.395-8079A>C - IntronicSNV - 2/23
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
3-77667044-G-A ROBO2 c.3602+120G>A - IntronicSNV - 23/26
12-133105852-A-T FBRSL1 c.615+1278A>T - IntronicSNV - 4/16
15-67446831-G-A SMAD3 c.207-10402G>A - IntronicSNV - 1/8
17-78615571-G-A RPTOR c.266-1957G>A - IntronicSNV - 2/33
1-19763396-C-T CAPZB c.4-17152G>A - IntronicSNV - 1/9
18-77222862-T-G NFATC1 c.1959+1496T>G - IntronicSNV - 7/7
14-102904179-G-T TECPR2 c.2395-180G>T - IntronicSNV - 9/19
14-102904179-G-C TECPR2 c.2395-180G>C - IntronicSNV - 9/19
14-102904179-G-A TECPR2 c.2395-180G>A - IntronicSNV - 9/19
15-74226765-G-C LOXL1 c.1102+6539G>C - IntronicSNV - 1/6
5-77505876-C-T AP3B1 c.639+6003G>A - IntronicSNV - 7/26
17-40466092-G-A STAT3 c.*1671C>T - 3-UTRSNV 24/24 -
11-17316029-C-T NUCB2 c.1-842C>T - IntronicSNV - 2/13
2-9662210-G-A ADAM17 c.844-765C>T - IntronicSNV - 7/18
4-79700562-C-T BMP2K c.178+2687C>T - IntronicSNV - 1/13
1-2996602-T-C PRDM16 c.37+10742T>C - IntronicSNV - 1/16
12-104344836-A-G C12orf73 c.*465T>C - 3-UTRSNV 3/3 -
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
3-119560606-T-A GSK3B c.1195+1496A>T - IntronicSNV - 10/10
3-119560606-T-C GSK3B c.1195+1496A>G - IntronicSNV - 10/10
9-33827694-C-T UBE2R2 c.177+9762C>T - IntronicSNV - 1/4
4-128568966-C-T INTU c.682+3755C>T - IntronicSNV - 2/15
4-89713121-C-T FAM13A c.72-1343G>A - IntronicSNV - 2/17
7-151411494-G-A PRKAG2 c.467-38771C>T - IntronicSNV - 3/15
7-151411494-G-T PRKAG2 c.467-38771C>A - IntronicSNV - 3/15
8-27527995-C-T SCARA3 c.1370-422C>T - IntronicSNV - 5/5
17-47402807-C-T ZNF652 c.1-7720G>A - IntronicSNV - 1/5
17-45377577-G-T ITGB3 c.1914-267G>T - IntronicSNV - 11/14
20-30433352-C-T FOXS1 c.1-7G>A - 5-UTRSNV 1/1 -
10-124088725-C-T BTBD16 c.912-270C>T - IntronicSNV - 10/15
18-50818827-C-T DCC c.1912-13121C>T - IntronicSNV - 12/28
20-45558831-A-C EYA2 c.-11+35205A>C - intron_variant - 1/15
8-21791772-C-T XPO7 c.18+14473C>T - IntronicSNV - 1/27
16-82184201-A-C MPHOSPH6 c.255+828T>G - IntronicSNV - 3/4
18-23627138-G-T SS18 c.607+5450C>A - IntronicSNV - 5/10
16-67801391-A-G RANBP10 c.400+4546T>C - IntronicSNV - 3/13
16-67801391-A-C RANBP10 c.400+4546T>G - IntronicSNV - 3/13
18-23627138-G-A SS18 c.607+5450C>T - IntronicSNV - 5/10
18-23627138-G-C SS18 c.607+5450C>G - IntronicSNV - 5/10
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4
19-18454825-A-G PGPEP1 c.87+1104A>G - IntronicSNV - 2/4
3-172165727-C-T GHSR c.477G>A p.Arg159Arg Synonymous 1/1 -
7-128410012-G-A CALU c.*791G>A - 3-UTRSNV 7/7 -
14-79936964-T-C NRXN3 c.429+3219T>C - IntronicSNV - 2/6
2-145231349-A-G ZEB2 c.73+43496T>C - IntronicSNV - 2/9
1-86330770-C-T COL24A1 c.3300+3432G>A - IntronicSNV - 37/59
1-26758773-G-A DHDDS c.-150G>A - 5_prime_UTR_variant 1/9 -
15-100687967-A-G ADAMTS17 c.1473+4850T>C - IntronicSNV - 10/21
15-100687967-A-C ADAMTS17 c.1473+4850T>G - IntronicSNV - 10/21
19-44141015-T-C CADM4 c.64+2864A>G - IntronicSNV - 1/8
7-44808223-G-A ZMIZ2 c.*1001G>A - 3-UTRSNV 19/19 -
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
16-377367-A-G AXIN1 c.879-12684T>C - IntronicSNV - 2/10
2-9662210-G-C ADAM17 c.844-765C>G - IntronicSNV - 7/18
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
6-160668389-A-T SLC22A2 c.843-59T>A - IntronicSNV - 4/10
15-89851580-G-A FANCI c.3471+677G>A - IntronicSNV - 33/36
6-26091179-C-T HFE c.187C>T p.His63Tyr Missense 2/6 -
14-63423687-G-A KCNH5 c.943-6410C>T - IntronicSNV - 6/10
3-11646954-G-T VGLL4 c.65-3458C>A - IntronicSNV - 2/5
3-11646954-G-A VGLL4 c.65-3458C>T - IntronicSNV - 2/5
11-12924265-G-A TEAD1 c.873+605G>A - IntronicSNV - 10/12
5-64674446-C-T ADAMTS6 c.1074-44534G>A - IntronicSNV - 7/24
9-136149150-C-T ABO c.28+1428G>A - IntronicSNV - 1/7
9-139089717-T-G LHX3 c.791-128A>C - IntronicSNV - 5/5
1-93009438-C-G EVI5 c.2118+19761G>C - IntronicSNV - 17/17
15-84266145-G-T SH3GL3 c.838+8622G>T - IntronicSNV - 8/8
15-84266145-G-A SH3GL3 c.838+8622G>A - IntronicSNV - 8/8
9-15634326-T-C CCDC171 c.822+10915T>C - IntronicSNV - 7/25
3-20105673-A-G KAT2B c.304-8152A>G - IntronicSNV - 1/17
22-43115576-T-C A4GALT c.-188+1227A>G - intron_variant - 1/2
4-9938969-T-C SLC2A9 c.727+4568A>G - IntronicSNV - 7/12
19-50028163-A-T FCGRT c.871+130A>T - IntronicSNV - 5/6
19-50028163-A-G FCGRT c.871+130A>G - IntronicSNV - 5/6
15-66997087-A-G SMAD6 c.817+674A>G - IntronicSNV - 1/3
16-67087407-T-C CBFB c.283-13178T>C - IntronicSNV - 3/5
15-72118777-G-C MYO9A c.*144C>G - 3-UTRSNV 42/42 -
3-12368233-A-T PPARG c.-3+38714A>T - intron_variant - 1/6
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
1-37962756-A-C MEAF6 c.534-419T>G - IntronicSNV - 5/7
20-20068635-C-G CFAP61 c.567-2853C>G - IntronicSNV - 6/26
15-76740219-C-G SCAPER c.3079-13568G>C - IntronicSNV - 25/31
11-100593538-G-A ARHGAP42 c.154+34975G>A - IntronicSNV - 1/23
19-50100295-A-G PRR12 c.2703A>G p.Pro901Pro Synonymous 4/14 -
3-58381287-G-A PXK c.721-98G>A - IntronicSNV - 8/17
6-2050791-A-G GMDS c.255+65214T>C - IntronicSNV - 4/10
7-75163169-A-G HIP1 c.*4324T>C - 3-UTRSNV 31/31 -
2-62286552-A-G COMMD1 c.462+58435A>G - IntronicSNV - 2/2
11-83276168-A-T DLG2 c.1626-23267T>A - IntronicSNV - 14/22
11-83276168-A-G DLG2 c.1626-23267T>C - IntronicSNV - 14/22
3-49649873-A-G BSN c.225-12535A>G - IntronicSNV - 1/11
17-62007498-A-T CD79B c.366T>A p.Cys122* Nonsense 3/6 -
11-100610546-T-C ARHGAP42 c.155-30528T>C - IntronicSNV - 1/23
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
5-176576293-C-T NSD1 c.120+13262C>T - IntronicSNV - 3/23
5-176576293-C-G NSD1 c.120+13262C>G - IntronicSNV - 3/23
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
18-60920854-C-T BCL2 c.585+64461G>A - IntronicSNV - 2/2
12-10568525-A-G KLRC3 c.588-132T>C - IntronicSNV - 5/6
3-58013573-C-T FLNB c.292+18990C>T - IntronicSNV - 1/45
6-90739331-C-A BACH2 c.1-20768G>T - IntronicSNV - 3/8
4-77410318-C-A SHROOM3 c.168+52945C>A - IntronicSNV - 1/10
2-100756009-T-C AFF3 c.-145+2937A>G - intron_variant - 1/23
1-26741544-A-G LIN28A c.228+3471A>G - IntronicSNV - 2/3
5-1286516-C-A TERT c.1574-3777G>T - IntronicSNV - 2/14
10-80940740-A-T ZMIZ1 c.-50+18850A>T - intron_variant - 4/24
17-76393413-G-A PGS1 c.412-920G>A - IntronicSNV - 3/9
2-242191410-C-G HDLBP c.1372+962G>C - IntronicSNV - 11/27
11-10180991-A-G SBF2 c.141+34458T>C - IntronicSNV - 2/39
12-122781897-G-C CLIP1 c.3562-8809C>G - IntronicSNV - 19/24
12-122781897-G-A CLIP1 c.3562-8809C>T - IntronicSNV - 19/24
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
17-76393413-G-C PGS1 c.412-920G>C - IntronicSNV - 3/9
22-46364161-G-C WNT7B c.71+8403C>G - IntronicSNV - 1/3
14-105758964-C-T BRF1 c.185-6251G>A - IntronicSNV - 1/17
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
16-375782-C-T AXIN1 c.879-11099G>A - IntronicSNV - 2/10
1-49589847-A-G AGBL4 c.378-78375T>C - IntronicSNV - 4/13
2-190441317-A-G SLC40A1 c.112-1271T>C - IntronicSNV - 2/7
12-51158262-C-T ATF1 c.-7+172C>T - intron_variant - 1/6
9-133464084-A-G FUBP3 c.85-6786A>G - IntronicSNV - 1/18
15-44324183-44324184---ACTGGTACTAAA FRMD5 c.103-107688_103-107677dup - intron_variant - 1/13
1-53581972-C-G SLC1A7 c.216-1327G>C - IntronicSNV - 2/10
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
10-65317045-G-C REEP3 c.33-9053G>C - IntronicSNV - 1/7
10-65317045-G-T REEP3 c.33-9053G>T - IntronicSNV - 1/7
2-163167746-C-G IFIH1 c.454-303G>C - IntronicSNV - 1/15
7-98775453-C-T KPNA7 c.1464+90G>A - IntronicSNV - 9/9
19-47572987-T-C ZC3H4 c.2147-387A>G - IntronicSNV - 13/14
20-8604181-C-T PLCB1 c.247-4760C>T - IntronicSNV - 3/31
17-68090207-C-T KCNJ16 c.-275-6592C>T - intron_variant - 1/4
3-24350811-A-G THRB c.-43+27980T>C - intron_variant - 2/9
10-28478492-C-T MPP7 c.156+12590G>A - IntronicSNV - 5/18
16-68733646-G-A CDH3 c.*1343G>A - IntergenicSNV 16/16 -
17-66303352-G-A ARSG c.1-283G>A - 5-UTRSNV 2/12 -
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
5-39397132-T-A DAB2 c.1-2710A>T - IntronicSNV - 1/14
11-48098280-G-A PTPRJ c.97-33330G>A - IntronicSNV - 1/8
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
1-172241251-C-T DNM3 c.1769+18429C>T - IntronicSNV - 15/20
3-142120786-C-G XRN1 c.2104-1397G>C - IntronicSNV - 18/41
14-64703593-G-T ESR2 c.1226-1725C>A - IntronicSNV - 7/8
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -
1-19763396-C-A CAPZB c.4-17152G>T - IntronicSNV - 1/9
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
12-29496991-C-T ERGIC2 c.826-776G>A - IntronicSNV - 11/13
10-12943973-C-T CCDC3 c.550-3294G>A - IntronicSNV - 2/2
10-70196580-T-C DNA2 c.1646+188A>G - IntronicSNV - 10/20
3-38219585-G-A OXSR1 c.71-4909G>A - IntronicSNV - 1/17
6-151932778-A-G CCDC170 c.1711-3800A>G - IntronicSNV - 9/10
13-114551993-T-C GAS6 c.256-970A>G - IntronicSNV - 2/14
6-44946506-T-A SUPT3H c.538-16941A>T - IntronicSNV - 8/12
6-35614026-T-C FKBP5 c.1-3425A>G - IntronicSNV - 2/11
5-31541142-G-T C5orf22 c.870+24G>T - IntronicSNV - 5/8
1-205201325-A-T TMCC2 c.207+3426A>T - IntronicSNV - 1/4
5-173320815-G-A CPEB4 c.1125+2954G>A - IntronicSNV - 1/9
11-18560317-G-A UEVLD c.1061-2301C>T - IntronicSNV - 9/10
16-87886490-C-T SLC7A5 c.539-1035G>A - IntronicSNV - 1/9
16-87886490-C-G SLC7A5 c.539-1035G>C - IntronicSNV - 1/9
14-65502239-G-A CHURC1-FNTB c.554+2825G>A - IntronicSNV - 8/12
19-7244233-A-C INSR c.652+23123T>G - IntronicSNV - 2/21
7-120742980-C-T CPED1 c.918+2832C>T - IntronicSNV - 7/22
11-9769562-C-G SWAP70 c.1513C>G p.Gln505Glu Missense 10/12 -
15-72161403-T-C MYO9A c.5980-6451A>G - IntronicSNV - 32/41
2-37409499-C-T SULT6B1 c.288+1069G>A - IntronicSNV - 5/8
3-11400249-C-A ATG7 c.1479+163C>A - IntronicSNV - 13/18
2-241510903-G-A RNPEPL1 c.529-937G>A - IntronicSNV - 1/10
9-101743336-T-C COL15A1 c.101-4511T>C - IntronicSNV - 2/41
4-122769967-T-C BBS7 c.934+32A>G - IntronicSNV - 9/17
2-37409499-C-G SULT6B1 c.288+1069G>C - IntronicSNV - 5/8
10-80928793-G-A ZMIZ1 c.-50+6903G>A - intron_variant - 4/24
3-11400249-C-T ATG7 c.1479+163C>T - IntronicSNV - 13/18