PMID: 29500431

Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits.

Nature communications
Y Wu, J Zeng, F Zhang, Z Zhu, T Qi, Z Zheng, LR Lloyd-Jones, RE Marioni, NG Martin, GW Montgomery, IJ Deary, NR Wray, PM Visscher, AF McRae, J Yang
2018-03-02

1912 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-139103955-G-A QSOX2 c.1361-657C>T - IntronicSNV - 10/11
11-65558309-C-T OVOL1 c.101-3193C>T - IntronicSNV - 1/3
2-220003241-T-A NHEJ1 c.588+8161A>T - IntronicSNV - 5/7
10-126844523-T-A CTBP2 c.-206+4873A>T - intron_variant - 1/10
12-56680531-T-C CS c.43-102A>G - IntronicSNV - 1/10
1-149906413-T-C MTMR11 c.259A>G p.Met87Val Missense 5/17 -
3-49982765-C-T RBM6 c.-67+5107C>T - intron_variant - 1/20
2-233792109-G-A NGEF c.384-213C>T - IntronicSNV - 3/14
2-233792109-G-T NGEF c.384-213C>A - IntronicSNV - 3/14
6-44799657-A-T SUPT3H c.946-2063T>A - IntronicSNV - 12/12
19-41908871-G-A BCKDHA c.108+5031G>A - IntronicSNV - 1/8
19-41908871-G-C BCKDHA c.108+5031G>C - IntronicSNV - 1/8
19-17488141-A-C PLVAP c.1-44T>G - IntergenicSNV 1/6 -
1-8021973-G-T PARK7 c.-24+120G>T - intron_variant - 1/6
17-43242694-G-A HEXIM2 c.66+2468G>A - IntronicSNV - 3/3
10-121584624-C-T INPP5F c.2249+1210C>T - IntronicSNV - 19/19
3-128990998-T-C COPG1 c.1987-89T>C - IntronicSNV - 19/23
3-134211064-C-T CEP63 c.1-3099C>T - IntronicSNV - 2/15
16-50382559-C-T BRD7 c.591+1375G>A - IntronicSNV - 5/16
20-25293570-G-C ABHD12 c.619+1991C>G - IntronicSNV - 6/12
7-2052318-C-T MAD1L1 c.1359+1819G>A - IntronicSNV - 13/18
1-63034363-A-C DOCK7 c.2113-6989T>G - IntronicSNV - 18/48
3-49572140-A-G DAG1 c.*1508A>G - 3-UTRSNV 6/6 -
9-139328369-T-C INPP5E c.1034+120A>G - IntronicSNV - 3/9
2-219104827-G-C ARPC2 c.549+620G>C - IntronicSNV - 6/9
2-219104827-G-A ARPC2 c.549+620G>A - IntronicSNV - 6/9
2-109206464-T-A LIMS1 c.-5+1583T>A - intron_variant - 1/9
2-109206464-T-C LIMS1 c.-5+1583T>C - intron_variant - 1/9
17-47016817-T-C SNF8 c.244+1469A>G - IntronicSNV - 3/7
22-42341308-A-G CENPM c.231T>C p.Ser77Ser Synonymous 4/6 -
20-54935242-A-T FAM210B c.186+995A>T - IntronicSNV - 1/2
17-7350050-C-A CHRNB1 c.244-102C>A - IntronicSNV - 3/10
16-716428-G-A WDR90 c.4741-27G>A - IntronicSNV - 37/40
11-130785304-T-C SNX19 c.531A>G p.Ala177Ala Synonymous 1/11 -
6-33670482-A-G UQCC2 c.139-1285T>C - IntronicSNV - 1/3
14-65541381-G-A MAX c.171+19045C>T - IntronicSNV - 3/3
9-95017588-C-T IARS c.2137+1374G>A - IntronicSNV - 20/33
11-117070857-G-T TAGLN c.-13+312G>T - intron_variant - 1/4
19-17534898-C-T MVB12A c.702+22C>T - IntronicSNV - 7/8
7-73019975-A-G MLXIPL c.901+43T>C - IntronicSNV - 7/16
20-47673002-G-C CSE1L c.1-1999G>C - IntronicSNV - 1/24
3-49427319-G-C RHOA c.1-14297C>G - IntronicSNV - 1/4
3-141105570-A-G ZBTB38 c.-416-144A>G - intron_variant - 4/7
5-56225769-T-C MIER3 c.829+722A>G - IntronicSNV - 9/12
16-2136624-T-C TSC2 c.4850-109T>C - IntronicSNV - 37/41
16-2136624-T-G TSC2 c.4850-109T>G - IntronicSNV - 37/41
12-46661387-A-G SLC38A1 c.-209+1261T>C - intron_variant - 1/16
12-46661387-A-C SLC38A1 c.-209+1261T>G - intron_variant - 1/16
1-2524915-G-T MMEL1 c.1867+338C>A - IntronicSNV - 19/23
17-43111688-G-A DCAKD c.183C>T p.Asn61Asn Synonymous 3/5 -
20-32245869-C-T NECAB3 c.969-30G>A - IntronicSNV - 11/12
8-145048666-T-G PLEC c.193+679A>C - IntronicSNV - 2/32
6-12892486-A-G PHACTR1 c.250+142464A>G - IntronicSNV - 4/14
11-2321650-A-G C11orf21 c.285+100T>C - IntronicSNV - 3/4
11-116645275-C-A ZPR1 c.*4366G>T - IntergenicSNV 14/14 -
11-116645275-C-T ZPR1 c.*4366G>A - IntergenicSNV 14/14 -
13-28000282-C-A GTF3A c.202-947C>A - IntronicSNV - 1/8
13-28000282-C-T GTF3A c.202-947C>T - IntronicSNV - 1/8
15-58759940-A-T LIPC c.88+35621A>T - IntronicSNV - 1/8
11-65109233-A-G DPF2 c.465+200A>G - IntronicSNV - 4/10
11-65109233-A-C DPF2 c.465+200A>C - IntronicSNV - 4/10
7-2803510-C-T GNA12 c.526-30375G>A - IntronicSNV - 2/3
7-2803510-C-G GNA12 c.526-30375G>C - IntronicSNV - 2/3
16-661142-T-C RAB40C c.143-6066T>C - IntronicSNV - 1/5
11-47702395-A-G AGBL2 c.1916-770T>C - IntronicSNV - 12/18
16-50371463-T-G BRD7 c.702+2424A>C - IntronicSNV - 6/16
19-45372329-A-G NECTIN2 c.479-2781A>G - IntronicSNV - 2/5
1-17289911-C-G CROCC c.4405+2286C>G - IntronicSNV - 27/36
1-17289911-C-T CROCC c.4405+2286C>T - IntronicSNV - 27/36
20-44643592-A-G MMP9 c.2005+479A>G - IntronicSNV - 12/12
11-117021759-T-A PAFAH1B2 c.1-1405T>A - IntronicSNV - 1/5
17-37834998-C-T PGAP3 c.433-4066G>A - IntronicSNV - 3/7
20-33600740-C-T TRPC4AP c.1409+71G>A - IntronicSNV - 11/18
8-19806631-T-C LPL c.249+780T>C - IntronicSNV - 2/9
11-117021759-T-C PAFAH1B2 c.1-1405T>C - IntronicSNV - 1/5
17-37794351-T-A STARD3 c.-52+867T>A - intron_variant - 1/14
1-2060058-C-T PRKCZ c.335-6643C>T - IntronicSNV - 4/17
12-123544878-A-G PITPNM2 c.1-25741T>C - IntronicSNV - 1/24
11-61582708-T-C FADS1 c.375+1319A>G - IntronicSNV - 1/11
3-56779011-G-A ARHGEF3 c.870+222C>T - IntronicSNV - 7/9
16-28333411-G-A SBK1 c.*1169G>A - 3-UTRSNV 4/4 -
17-37835755-T-C PGAP3 c.433-4823A>G - IntronicSNV - 3/7
20-33523155-G-T GSS c.834+224C>A - IntronicSNV - 9/12
15-70364352-G-A TLE3 c.372+2520C>T - IntronicSNV - 6/19
19-19657198-C-T CILP2 c.*373C>T - 3-UTRSNV 8/8 -
4-122764725-A-C BBS7 c.1305+357T>G - IntronicSNV - 12/17
21-43855067-A-C UBASH3A c.1279+3A>C - IntronicSNV - 9/13
21-43855067-A-G UBASH3A c.1279+3A>G - IntronicSNV - 9/13
1-27052710-A-C ARID1A c.1138-3432A>C - IntronicSNV - 1/19
3-136027549-A-T PCCB c.966+7596A>T - IntronicSNV - 9/14
19-19562902-G-A GATAD2A c.1-13253G>A - IntronicSNV - 1/11
3-50223593-T-A SEMA3F c.1745+114T>A - IntronicSNV - 16/18
12-123568619-A-C PITPNM2 c.-96+26313T>G - intron_variant - 1/24
11-61599347-G-A FADS2 c.207+3278G>A - IntronicSNV - 1/11
20-33442138-A-C GGT7 c.1319+196T>G - IntronicSNV - 10/14
1-2042543-A-G PRKCZ c.335-24158A>G - IntronicSNV - 4/17
17-7477477-A-G EIF4A1 c.24-101A>G - IntronicSNV - 1/10
17-47016837-G-C SNF8 c.244+1449C>G - IntronicSNV - 3/7
17-47016837-G-T SNF8 c.244+1449C>A - IntronicSNV - 3/7
17-47016837-G-A SNF8 c.244+1449C>T - IntronicSNV - 3/7
7-23502974-T-A IGF2BP3 c.236+5127A>T - IntronicSNV - 2/14
14-35594106-C-G KIAA0391 c.986+669C>G - IntronicSNV - 2/7
6-35191519-G-A SCUBE3 c.86-3838G>A - IntronicSNV - 1/21
16-67469733-C-T HSD11B2 c.468C>T p.Thr156Thr Synonymous 2/5 -
11-117030581-T-A PAFAH1B2 c.82-69T>A - IntronicSNV - 2/5
20-33857544-C-A MMP24 c.1195-19C>A - IntronicSNV - 6/8
16-67469733-C-G HSD11B2 c.468C>G p.Thr156Thr Synonymous 2/5 -
15-76914528-A-C SCAPER c.2646-358T>G - IntronicSNV - 21/31
1-243428152-T-G SDCCAG8 c.68-5255T>G - IntronicSNV - 1/17
6-33413019-A-C SYNGAP1 c.3582+625A>C - IntronicSNV - 16/18
1-114450964-T-C DCLRE1B c.538+151T>C - IntronicSNV - 3/3
1-114450964-T-G DCLRE1B c.538+151T>G - IntronicSNV - 3/3
13-33091241-G-C N4BP2L2 c.*698C>G - 3-UTRSNV 6/6 -
17-43183028-G-A NMT1 c.*21G>A - 3-UTRSNV 12/12 -
14-74990746-A-G LTBP2 c.2530+1081T>C - IntronicSNV - 15/35
11-47372377-G-C MYBPC3 c.293-211C>G - IntronicSNV - 2/34
3-141076084-T-C ZBTB38 c.-738-11379T>C - intron_variant - 1/7
6-109764535-G-A SMPD2 c.795G>A p.Arg265Arg Synonymous 9/10 -
6-109764535-G-T SMPD2 c.795G>T p.Arg265Ser Missense 9/10 -
12-56474480-A-G ERBB3 c.82+314A>G - IntronicSNV - 1/27
6-35420967-G-A FANCE c.248+397G>A - IntronicSNV - 1/9
1-183072590-T-C LAMC1 c.546T>C p.Cys182Cys Synonymous 2/28 -
11-116727936-A-T SIK3 c.3511+590T>A - intron_variant - 20/23
11-65391317-G-A PCNX3 c.2512-83G>A - IntronicSNV - 12/34
1-17328200-A-T ATP13A2 c.705+329T>A - IntronicSNV - 8/28
3-53053924-C-T SFMBT1 c.-131+25908G>A - intron_variant - 1/20
17-17460674-G-A PEMT c.93+19560C>T - IntronicSNV - 2/6
2-68470814-C-T PPP3R1 c.3+8443G>A - IntronicSNV - 1/5
2-24194314-C-T UBXN2A c.180+30C>T - IntronicSNV - 3/6
7-2015970-C-T MAD1L1 c.1505+4118G>A - IntronicSNV - 15/18
17-40873303-T-C EZH1 c.488-836A>G - IntronicSNV - 6/20
22-38051999-C-T SH3BP1 c.*308C>T - 3-UTRSNV 18/18 -
1-19781155-G-A CAPZB c.3+30775C>T - IntronicSNV - 1/9
1-19781155-G-C CAPZB c.3+30775C>G - IntronicSNV - 1/9
9-95019379-G-A IARS c.2017-297C>T - IntronicSNV - 19/33
18-46678717-A-G DYM c.1563+11338T>C - IntronicSNV - 14/16
19-52327784-C-T FPR3 c.783C>T p.Gly261Gly Synonymous 2/2 -
17-37814080-G-A STARD3 c.350G>A p.Arg117Gln Missense 4/15 -
1-155034632-C-G ADAM15 c.2278-89C>G - IntronicSNV - 19/20
12-123642220-G-T MPHOSPH9 c.3451-765C>A - IntronicSNV - 23/23
18-46678717-A-T DYM c.1563+11338T>A - IntronicSNV - 14/16
16-68414975-C-G SMPD3 c.-207+5526G>C - intron_variant - 2/8
16-68414975-C-T SMPD3 c.-207+5526G>A - intron_variant - 2/8
11-119006300-C-T HINFP c.*1092C>T - IntergenicSNV 11/11 -
14-103996733-C-G TRMT61A c.331+87C>G - IntronicSNV - 2/3
14-75626042-A-C TMED10 c.226-7196T>G - IntronicSNV - 1/4
2-24931288-C-G NCOA1 c.2418+531C>G - IntronicSNV - 12/22
11-119006300-C-A HINFP c.*1092C>A - IntergenicSNV 11/11 -
11-119006300-C-G HINFP c.*1092C>G - IntergenicSNV 11/11 -
15-99219905-C-G IGF1R c.94+27001C>G - IntronicSNV - 1/20
3-135772078-C-T PPP2R3A c.2469+3875C>T - IntronicSNV - 5/13
15-99219905-C-T IGF1R c.94+27001C>T - IntronicSNV - 1/20
6-35189999-G-T SCUBE3 c.86-5358G>T - IntronicSNV - 1/21
3-52563718-C-T NT5DC2 c.122-368G>A - IntronicSNV - 1/13
7-23477027-A-T IGF2BP3 c.237-18584T>A - IntronicSNV - 2/14
17-59483766-C-T TBX2 c.1686+569C>T - IntronicSNV - 6/6
17-46020698-C-T PNPO c.165C>T p.Ser55Ser Synonymous 2/7 -
7-23477027-A-C IGF2BP3 c.237-18584T>G - IntronicSNV - 2/14
9-139266405-G-A CARD9 c.126C>T p.Pro42Pro Synonymous 2/13 -
14-35588296-A-G PPP2R3C c.59-2353T>C - IntronicSNV - 1/12
6-33383974-G-C PHF1 c.*323G>C - 3-UTRSNV 14/14 -
20-34060286-T-C CEP250 c.1051-212T>C - IntronicSNV - 11/34
7-91891192-T-C ANKIB1 c.-91+15359T>C - intron_variant - 1/19
9-139107925-G-A QSOX2 c.1209+521C>T - IntronicSNV - 9/11
4-145574844-A-G HHIP c.472+895A>G - IntronicSNV - 2/12
20-33590417-G-A TRPC4AP c.*532C>T - 3-UTRSNV 19/19 -
6-33656850-C-T ITPR3 c.6695-165C>T - IntronicSNV - 49/57
1-10378451-C-G KIF1B c.1978-1650C>G - IntronicSNV - 20/46
20-33262874-G-C PIGU c.130+1886C>G - IntronicSNV - 1/11
13-115008388-T-C CDC16 c.542-344T>C - IntronicSNV - 6/18
5-131821558-A-C IRF1 c.668-150T>G - IntronicSNV - 7/9
3-141094209-G-A ZBTB38 c.-480+5421G>A - intron_variant - 3/7
2-219000734-T-C CXCR2 c.*127T>C - 3-UTRSNV 3/3 -
19-49228272-T-C RASIP1 c.2128-55A>G - IntronicSNV - 8/11
16-769566-C-G METRN c.*2179C>G - IntergenicSNV 4/4 -
14-59800800-A-C DAAM1 c.1968+2162A>C - IntronicSNV - 14/24
3-52744460-A-G NEK4 c.*1333T>C - IntergenicSNV 16/16 -
3-38051941-T-C PLCD1 c.966A>G p.Pro322Pro Synonymous 6/15 -
16-68290200-G-T PLA2G15 c.727+307G>T - IntronicSNV - 5/5
6-43304007-C-A ZNF318 c.*889G>T - 3-UTRSNV 10/10 -
1-67482550-A-G SLC35D1 c.876+3502T>C - IntronicSNV - 10/11
15-74282880-C-T STOML1 c.134-82G>A - IntronicSNV - 1/6
1-201872264-C-T LMOD1 c.262-2385G>A - IntronicSNV - 1/2
1-98121991-T-C DPYD c.850+22660A>G - IntronicSNV - 8/22
17-61894578-T-C DDX42 c.2112+252T>C - IntronicSNV - 18/18
7-1948110-G-T MAD1L1 c.1808-10084C>A - IntronicSNV - 17/18
6-33659046-G-C ITPR3 c.7225+160G>C - IntronicSNV - 52/57
6-33659046-G-A ITPR3 c.7225+160G>A - IntronicSNV - 52/57
16-651279-G-C RAB40C c.142+10846G>C - IntronicSNV - 1/5
10-22826093-A-C PIP4K2A c.*37T>G - 3-UTRSNV 10/10 -
9-98236202-A-G PTCH1 c.1728+2114T>C - IntronicSNV - 12/23
9-139267533-G-A CARD9 c.-17+451C>T - intron_variant - 1/12
19-10397238-C-T ICAM1 c.*1275C>T - 3-UTRSNV 7/7 -
8-145703413-T-G PPP1R16A c.-1108T>G - 5_prime_UTR_variant 1/13 -
8-145703413-T-C PPP1R16A c.-1108T>C - 5_prime_UTR_variant 1/13 -
7-2754625-A-G AMZ1 c.*2113A>G - 3-UTRSNV 7/7 -
6-35270579-T-C DEF6 c.96+4850T>C - IntronicSNV - 1/10
20-32022251-A-C SNTA1 c.496+4396T>G - IntronicSNV - 2/7
14-74957153-T-C NPC2 c.82+2743A>G - IntronicSNV - 1/4
20-32022251-A-T SNTA1 c.496+4396T>A - IntronicSNV - 2/7
20-32110204-T-C CBFA2T2 c.34+32097T>C - IntronicSNV - 1/10
1-2090816-T-C PRKCZ c.974+3285T>C - IntronicSNV - 10/17
20-44643111-G-A MMP9 c.2003G>A p.Arg668Gln Missense 12/13 -
17-7417663-C-T POLR2A c.*167C>T - 3-UTRSNV 29/29 -
20-33179367-T-C PIGU c.628-2956A>G - IntronicSNV - 7/11
20-33179367-T-A PIGU c.628-2956A>T - IntronicSNV - 7/11
7-128668510-T-A TNPO3 c.121-10299A>T - IntronicSNV - 1/22
4-88286409-C-T HSD17B11 c.557+7452G>A - IntronicSNV - 4/6
7-128668510-T-G TNPO3 c.121-10299A>C - IntronicSNV - 1/22
6-35214971-G-T SCUBE3 c.2832+909G>T - IntronicSNV - 21/21
3-49035211-G-A P4HTM c.437-3660G>A - IntronicSNV - 2/8
2-162048975-T-G TANK c.100-11023T>G - IntronicSNV - 2/3
2-162048975-T-C TANK c.100-11023T>C - IntronicSNV - 2/3
2-162048975-T-A TANK c.100-11023T>A - IntronicSNV - 2/3
17-7464413-C-T TNFSF13 c.*263C>T - 3-UTRSNV 6/6 -
11-47682763-G-T AGBL2 c.2536-865C>A - IntronicSNV - 18/18
6-35214971-G-C SCUBE3 c.2832+909G>C - IntronicSNV - 21/21
17-5312672-C-A NUP88 c.681-443G>T - IntronicSNV - 4/16
16-68290200-G-A PLA2G15 c.727+307G>A - IntronicSNV - 5/5
1-201860626-A-G SHISA4 c.477A>G p.Ile159Met Missense 4/5 -
16-68323654-G-A SLC7A6 c.650-645G>A - IntronicSNV - 4/10
7-143104816-G-A EPHA1 c.83-45C>T - IntronicSNV - 1/17
1-227919190-G-A JMJD4 c.*903C>T - 3-UTRSNV 6/6 -
1-201860626-A-C SHISA4 c.477A>C p.Ile159Ile Synonymous 4/5 -
4-114822605-A-C ARSJ c.*825T>G - 3-UTRSNV 2/2 -
1-230284257-C-A GALNT2 c.127-29707C>A - IntronicSNV - 1/15
13-33204742-T-C PDS5B c.1-18168T>C - IntronicSNV - 1/34
15-74320888-T-G PML c.1254+3620T>G - IntronicSNV - 4/7
11-61567753-C-A FADS1 c.*2130G>T - 3-UTRSNV 12/12 -
13-99105892-G-C STK24 c.1296-429C>G - IntronicSNV - 10/10
5-131674888-T-C SLC22A4 c.1445-1370T>C - IntronicSNV - 8/9
2-234183368-A-G ATG16L1 c.841A>G p.Thr281Ala Missense 8/17 -
4-2255063-A-G MXD4 c.195-814T>C - IntronicSNV - 3/5
15-63429258-C-G LACTB c.1119-4221C>G - IntronicSNV - 5/5
3-191080723-C-T CCDC50 c.330+1775C>T - IntronicSNV - 4/10
16-4013467-C-T ADCY9 c.*2309G>A - 3-UTRSNV 11/11 -
1-22054427-C-A USP48 c.1450+636G>T - IntronicSNV - 11/26
4-1740985-A-T TACC3 c.1942-444A>T - IntronicSNV - 10/15
4-1740985-A-C TACC3 c.1942-444A>C - IntronicSNV - 10/15
17-43165384-T-A NMT1 c.385+1364T>A - IntronicSNV - 3/11
1-8497307-T-C RERE c.1204-14440A>G - IntronicSNV - 11/22
1-8497307-T-A RERE c.1204-14440A>T - IntronicSNV - 11/22
1-172193820-T-C DNM3 c.1660-28893T>C - IntronicSNV - 14/20
2-232669610-G-A COPS7B c.637-2587G>A - IntronicSNV - 6/6
22-50435480-A-G IL17REL c.998T>C p.Leu333Pro Missense 14/15 -
22-39855883-C-G MGAT3 c.-2+2321C>G - intron_variant - 1/1
16-28574615-A-G SGF29 c.-16+9197A>G - intron_variant - 1/9
3-141106063-T-A ZBTB38 c.-351+284T>A - intron_variant - 5/7
1-224565178-C-T CNIH4 c.*1654C>T - IntergenicSNV 5/5 -
3-141106063-T-C ZBTB38 c.-351+284T>C - intron_variant - 5/7
5-96327289-C-T LNPEP c.1132-1430C>T - IntronicSNV - 4/17
17-38080865-A-T ORMDL3 c.1-409T>A - IntronicSNV - 1/3
20-34457513-G-A PHF20 c.922+40G>A - IntronicSNV - 7/17
8-38106777-A-C DDHD2 c.1249-449A>C - IntronicSNV - 10/17
2-27671255-T-C IFT172 c.4429-466A>G - IntronicSNV - 40/47
1-160317021-C-A NCSTN c.191-1768C>A - IntronicSNV - 2/16
1-17421923-C-A PADI2 c.411+481G>T - IntronicSNV - 4/15
1-17421923-C-G PADI2 c.411+481G>C - IntronicSNV - 4/15
3-191046770-G-A UTS2B c.-664-272C>T - intron_variant - 1/8
1-160317021-C-T NCSTN c.191-1768C>T - IntronicSNV - 2/16
9-95488414-C-A BICD2 c.453+2892G>T - IntronicSNV - 2/7
15-91422543-T-C FURIN c.1054-131T>C - IntronicSNV - 9/15
14-23422453-A-G HAUS4 c.56-561T>C - IntronicSNV - 2/9
11-47527052-G-A CELF1 c.1-16486C>T - IntronicSNV - 1/13
14-23422453-A-T HAUS4 c.56-561T>A - IntronicSNV - 2/9
9-98236664-C-T PTCH1 c.1728+1652G>A - IntronicSNV - 12/23
15-89354339-G-T ACAN c.-8+7299G>T - intron_variant - 1/15
12-110027795-A-G MVK c.678-781A>G - IntronicSNV - 7/10
1-26518470-C-T CATSPER4 c.357+549C>T - IntronicSNV - 2/9
4-2164941-C-A POLN c.1555-4003G>T - IntronicSNV - 13/25
3-51432895-T-A RBM15B c.*1392T>A - 3-UTRSNV 1/1 -
16-67208048-C-G NOL3 c.1-25C>G - IntronicSNV 1/4 -
20-35945238-C-G MANBAL c.*420C>G - 3-UTRSNV 4/4 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
5-60385896-C-A NDUFAF2 c.218-8923C>A - IntronicSNV - 2/3
1-243500994-C-T SDCCAG8 c.1222-3347C>T - IntronicSNV - 10/17
20-34142512-G-A ERGIC3 c.686-303G>A - IntronicSNV - 7/12
7-44611890-A-G DDX56 c.645+56T>C - IntronicSNV - 5/13
6-170886531-T-C PDCD2 c.*116A>G - 3-UTRSNV 6/6 -
10-104140602-G-A GBF1 c.5161+159G>A - IntronicSNV - 38/39
20-37393470-G-A ACTR5 c.1177-575G>A - IntronicSNV - 5/8
12-11876394-A-G ETV6 c.34-28990A>G - IntronicSNV - 1/7
7-1895629-G-C MAD1L1 c.1999-39765C>G - IntronicSNV - 18/18
2-46978349-A-G SOCS5 c.1-7321A>G - IntronicSNV - 1/1
5-74670454-C-T COL4A3BP c.*10-438G>A - intron_variant - 17/17
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
19-2190690-T-C DOT1L c.265-321T>C - IntronicSNV - 4/27
10-80924404-C-G ZMIZ1 c.-50+2514C>G - intron_variant - 4/24
16-731725-T-G JMJD8 c.*1069A>C - 3-UTRSNV 9/9 -
17-37639327-G-A CDK12 c.1932-7483G>A - IntronicSNV - 2/13
20-33449769-T-C GGT7 c.558-404A>G - IntronicSNV - 3/14
1-113217311-G-C MOV10 c.-122G>C - 5_prime_UTR_variant 1/21 -
17-37807698-A-C STARD3 c.1-2087A>C - IntronicSNV - 1/14
7-2776698-T-A GNA12 c.526-3563A>T - IntronicSNV - 2/3
7-2776698-T-G GNA12 c.526-3563A>C - IntronicSNV - 2/3
1-8445360-C-T RERE c.1285-19326G>A - IntronicSNV - 12/22
3-51032607-A-C DOCK3 c.315+61099A>C - IntronicSNV - 5/52
17-18023897-G-C MYO15A c.1783G>C p.Ala595Pro Missense 2/66 -
1-44393533-C-T ST3GAL3 c.1246-2271C>T - IntronicSNV - 12/12
10-80924404-C-T ZMIZ1 c.-50+2514C>T - intron_variant - 4/24
12-66360068-C-T HMGA2 c.*2996C>T - 3-UTRSNV 5/5 -
10-121215348-C-A GRK5 c.*769C>A - IntergenicSNV 16/16 -
6-33743264-C-A LEMD2 c.1361+1467G>T - IntronicSNV - 8/8
12-117491703-T-C TESC c.209+2908A>G - IntronicSNV - 3/7
4-2221089-A-G POLN c.134-6236T>C - IntronicSNV - 3/25
5-131607402-T-C PDLIM4 c.671-82T>C - IntronicSNV - 5/6
16-633354-G-C PIGQ c.*319G>C - 3-UTRSNV 11/11 -
14-65500149-G-A CHURC1-FNTB c.554+735G>A - IntronicSNV - 8/12
2-100715803-G-A AFF3 c.53+5061C>T - IntronicSNV - 3/23
1-17287414-T-G CROCC c.4194T>G p.Ala1398Ala Synonymous 27/37 -
11-47169228-G-C C11orf49 c.366-7499G>C - IntronicSNV - 4/8
9-139105940-G-A QSOX2 c.1360+1060C>T - IntronicSNV - 10/11
3-52558133-T-C STAB1 c.7560T>C p.Asp2520Asp Synonymous 68/69 -
1-109949008-A-C PSMA5 c.648+3542T>G - IntronicSNV - 8/8
7-107575557-G-A LAMB1 c.4188+303C>T - IntronicSNV - 27/33
11-48102867-G-A PTPRJ c.97-28743G>A - IntronicSNV - 1/8
7-107575162-C-G LAMB1 c.4188+698G>C - IntronicSNV - 27/33
2-56094999-T-C EFEMP1 c.1321-630A>G - IntronicSNV - 11/11
17-76382079-C-T PGS1 c.144-6478C>T - IntronicSNV - 1/9
12-29426693-T-C FAR2 c.189+3122T>C - IntronicSNV - 2/11
1-2046786-G-A PRKCZ c.335-19915G>A - IntronicSNV - 4/17
5-74918856-G-T ANKDD1B c.397-2616G>T - IntronicSNV - 3/13
11-17299390-T-G NUCB2 c.-156+1015T>G - intron_variant - 1/13
11-17299390-T-C NUCB2 c.-156+1015T>C - intron_variant - 1/13
7-107575162-C-T LAMB1 c.4188+698G>A - IntronicSNV - 27/33
20-47697253-T-A CSE1L c.1482+2094T>A - IntronicSNV - 14/24
16-68029739-C-T DPEP2 c.1-2624G>A - IntronicSNV - 1/10
6-33395199-G-T SYNGAP1 c.295+1519G>T - IntronicSNV - 3/18
6-33395199-G-A SYNGAP1 c.295+1519G>A - IntronicSNV - 3/18
2-85783128-T-G GGCX c.618+177A>C - IntronicSNV - 5/14
7-73017657-C-T MLXIPL c.901+2361G>A - IntronicSNV - 7/16
2-219110625-G-A ARPC2 c.676+356G>A - IntronicSNV - 7/9
15-83219340-G-A CPEB1 c.1201-932C>T - IntronicSNV - 8/11
11-116641028-C-T BUD13 c.144-90G>A - IntronicSNV - 1/9
2-99743419-G-A TSGA10 c.-356+92C>T - intron_variant - 2/19
3-52288945-T-C WDR82 c.*2561A>G - 3-UTRSNV 9/9 -
7-2855326-G-A GNA12 c.310-20549C>T - IntronicSNV - 1/3
7-2855326-G-C GNA12 c.310-20549C>G - IntronicSNV - 1/3
3-158236860-A-G RSRC1 c.653-18021A>G - IntronicSNV - 7/9
8-145001031-T-C PLEC c.4046A>G p.His1349Arg Missense 31/33 -
3-158236860-A-T RSRC1 c.653-18021A>T - IntronicSNV - 7/9
17-37580704-C-T MED1 c.851+176G>A - IntronicSNV - 11/16
1-109891423-G-C SORT1 c.783-1269C>G - IntronicSNV - 6/19
9-139317869-T-C PMPCA c.*153T>C - 3-UTRSNV 13/13 -
1-109891423-G-A SORT1 c.783-1269C>T - IntronicSNV - 6/19
15-74222202-T-C LOXL1 c.1102+1976T>C - IntronicSNV - 1/6
17-7454528-C-T TNFSF12 c.373+233C>T - IntronicSNV - 5/6
17-7454528-C-G TNFSF12 c.373+233C>G - IntronicSNV - 5/6
2-232264914-G-T B3GNT7 c.*1278G>T - 3-UTRSNV 2/2 -
14-103895302-A-G MARK3 c.297+525A>G - IntronicSNV - 3/17
2-232264914-G-C B3GNT7 c.*1278G>C - 3-UTRSNV 2/2 -
2-232264914-G-A B3GNT7 c.*1278G>A - 3-UTRSNV 2/2 -
19-3434028-A-C NFIC c.710-247A>C - IntronicSNV - 4/8
19-3434028-A-T NFIC c.710-247A>T - IntronicSNV - 4/8
3-49890613-C-A TRAIP c.98+3176G>T - IntronicSNV - 1/14
4-48633500-C-A FRYL c.120+2808G>T - IntronicSNV - 4/63
4-48633500-C-G FRYL c.120+2808G>C - IntronicSNV - 4/63
12-124100423-A-G DDX55 c.956+560A>G - IntronicSNV - 9/13
6-33689520-C-T IP6K3 c.*977G>A - 3-UTRSNV 6/6 -
6-45177025-A-G SUPT3H c.135-103282T>C - IntronicSNV - 4/12
17-40817448-G-T TUBG2 c.607-46G>T - IntronicSNV - 6/10
6-116381994-T-C FRK c.1-520A>G - IntergenicSNV 1/8 -
4-17853726-A-C LCORL c.777-6202T>G - IntronicSNV - 6/6
7-2778496-G-A GNA12 c.526-5361C>T - IntronicSNV - 2/3
16-67871501-C-T CENPT c.-491-1940G>A - intron_variant - 1/15
7-2808595-C-T GNA12 c.525+25967G>A - IntronicSNV - 2/3
4-39518264-C-T UGDH c.163-2460G>A - IntronicSNV - 2/11
2-234249385-C-T SAG c.1046+261C>T - IntronicSNV - 13/15
6-35042226-T-A ANKS1A c.2185-4109T>A - IntronicSNV - 13/23
6-35042226-T-C ANKS1A c.2185-4109T>C - IntronicSNV - 13/23
12-123719444-G-A C12orf65 c.-29+1366G>A - intron_variant - 1/2
20-33649930-T-A TRPC4AP c.415-4556A>T - IntronicSNV - 3/18
4-17591648-A-G LAP3 c.863+1048A>G - IntronicSNV - 7/12
15-74284209-C-G STOML1 c.133+223G>C - IntronicSNV - 1/6
12-93970026-T-C SOCS2 c.*1071T>C - 3-UTRSNV 3/3 -
8-145005450-T-C PLEC c.2385+252A>G - IntronicSNV - 20/32
8-145005450-T-G PLEC c.2385+252A>C - IntronicSNV - 20/32
11-116828121-T-C SIK3 c.274-341A>G - intron_variant - 1/23
12-124499839-C-T ZNF664 c.*2362C>T - 3-UTRSNV 5/5 -
17-47001801-A-G UBE2Z c.894+1502A>G - IntronicSNV - 6/6
7-2811543-T-A GNA12 c.525+23019A>T - IntronicSNV - 2/3
2-89001005-A-T RPIA c.402+1423A>T - IntronicSNV - 3/8
4-1743336-C-T TACC3 c.2223+623C>T - IntronicSNV - 13/15
2-89001005-A-G RPIA c.402+1423A>G - IntronicSNV - 3/8
1-109705022-A-G KIAA1324 c.274+386A>G - IntronicSNV - 2/21
1-110136846-T-A GNAI3 c.*1902T>A - 3_prime_UTR_variant 9/9 -
2-24183805-G-A UBXN2A c.41+2580G>A - IntronicSNV - 2/6
6-158743188-G-A TULP4 c.252+7888G>A - IntronicSNV - 1/13
2-24183805-G-T UBXN2A c.41+2580G>T - IntronicSNV - 2/6
3-52731598-T-C GLT8D1 c.329+139A>G - IntronicSNV - 4/9
3-134205071-G-T CEP63 c.-425G>T - 5_prime_UTR_variant 1/16 -
5-176359335-T-C UIMC1 c.1597+11001A>G - IntronicSNV - 10/14
5-176359335-T-A UIMC1 c.1597+11001A>T - IntronicSNV - 10/14
6-33750086-A-G LEMD2 c.854-1156T>C - IntronicSNV - 3/8
1-44118406-G-A KDM4A c.1-441G>A - IntronicSNV - 1/21
3-48666503-G-A SLC26A6 c.1600-356C>T - IntronicSNV - 14/20
4-17782264-T-C FAM184B c.141+518A>G - IntronicSNV - 1/17
1-16530049-C-T ARHGEF19 c.1908-980G>A - IntronicSNV - 12/15
20-62369895-A-G LIME1 c.585+43A>G - IntronicSNV - 5/5
8-145031265-G-T PLEC c.193+18080C>A - IntronicSNV - 2/32
8-11629852-A-T NEIL2 c.138+758A>T - IntronicSNV - 2/4
19-19579557-A-G GATAD2A c.269+3134A>G - IntronicSNV - 2/11
9-136132633-A-G ABO c.371+163T>C - intron_variant - 7/7
18-12809340-A-G PTPN2 c.858+4862T>C - IntronicSNV - 7/8
1-17421923-C-T PADI2 c.411+481G>A - IntronicSNV - 4/15
6-44863106-A-G SUPT3H c.945+37284T>C - IntronicSNV - 12/12
1-156311165-G-T TSACC c.34+1583G>T - IntronicSNV - 2/3
12-123697531-T-C MPHOSPH9 c.1087+1760A>G - IntronicSNV - 7/23
1-20211670-G-A OTUD3 c.221+2443G>A - IntronicSNV - 1/7
8-145031265-G-A PLEC c.193+18080C>T - IntronicSNV - 2/32
15-38834033-T-C RASGRP1 c.221-15428A>G - IntronicSNV - 2/16
12-123444801-G-C ABCB9 c.1-19C>G - 5-UTRSNV - 1/10
15-100530216-A-T ADAMTS17 c.2949+3037T>A - IntronicSNV - 20/21
15-100530216-A-C ADAMTS17 c.2949+3037T>G - IntronicSNV - 20/21
7-1083777-A-G C7orf50 c.130-33998T>C - IntronicSNV - 2/4
19-3403004-A-G NFIC c.562+20763A>G - IntronicSNV - 2/8
12-124832606-A-G NCOR2 c.3985+114T>C - IntronicSNV - 31/48
20-33704108-T-C EDEM2 c.1237-372A>G - IntronicSNV - 10/10
10-120920588-T-C SFXN4 c.258A>G p.Gln86Gln Synonymous 4/14 -
5-79943002-T-G DHFR c.242+2206A>C - IntronicSNV - 3/5
20-33704108-T-A EDEM2 c.1237-372A>T - IntronicSNV - 10/10
16-3191356-G-A ZNF213 c.*8G>A - 3-UTRSNV 6/6 -
2-219229641-T-C CATIP c.755+166T>C - IntronicSNV - 7/9
6-160564476-C-G SLC22A1 c.1277-97C>G - IntronicSNV - 7/10
17-42805485-C-T DBF4B c.226-1788C>T - IntronicSNV - 3/14
16-69373414-T-G COG8 c.42A>C p.Thr14Thr Synonymous 1/6 -
16-82187181-T-A MPHOSPH6 c.165-2062A>T - IntronicSNV - 2/4
16-82187181-T-C MPHOSPH6 c.165-2062A>G - IntronicSNV - 2/4
3-53026714-A-T SFMBT1 c.1-23570T>A - IntronicSNV - 1/20
2-219599268-G-A TTLL4 c.1-3132G>A - IntronicSNV - 2/19
14-75545685-G-A ZC2HC1C c.*1446G>A - IntergenicSNV 3/3 -
7-2809087-G-A GNA12 c.525+25475C>T - IntronicSNV - 2/3
22-50441985-A-C IL17REL c.1-2366T>G - IntronicSNV - 3/14
22-50441985-A-G IL17REL c.1-2366T>C - IntronicSNV - 3/14
7-2801803-C-T GNA12 c.526-28668G>A - IntronicSNV - 2/3
17-7452977-C-G TNFSF12 c.207+139C>G - IntronicSNV - 2/6
6-35021517-G-C ANKS1A c.2011-359G>C - IntronicSNV - 11/23
15-89354339-G-A ACAN c.-8+7299G>A - intron_variant - 1/15
1-2089526-G-A PRKCZ c.974+1995G>A - IntronicSNV - 10/17
11-61543961-T-C MYRF c.1472+57T>C - IntronicSNV - 10/25
20-33857544-C-T MMP24 c.1195-19C>T - IntronicSNV - 6/8
20-33449739-C-A GGT7 c.558-374G>T - IntronicSNV - 3/14
12-2306128-A-G CACNA1C c.477+76532A>G - IntronicSNV - 3/46
6-33670028-A-G UQCC2 c.139-831T>C - IntronicSNV - 1/3
15-85147910-G-T ZSCAN2 c.406+346G>T - IntronicSNV - 2/2
6-33703230-G-A IP6K3 c.24C>T p.Asp8Asp Synonymous 2/6 -
5-131652529-A-C SLC22A4 c.652+3068A>C - IntronicSNV - 3/9
16-57000284-G-C CETP c.234-3014G>C - IntronicSNV - 2/15
11-77311259-C-T AQP11 c.620-3342C>T - IntronicSNV - 1/2
15-67442596-C-T SMAD3 c.207-14637C>T - IntronicSNV - 1/8
12-124393697-G-T DNAH10 c.9462-111G>T - IntronicSNV - 56/77
2-54821704-G-A SPTBN1 c.149-4525G>A - IntronicSNV - 2/35
2-54821704-G-T SPTBN1 c.149-4525G>T - IntronicSNV - 2/35
8-144681777-G-C TIGD5 c.1704G>C p.Met568Ile Missense 1/1 -
8-144681777-G-T TIGD5 c.1704G>T p.Met568Ile Missense 1/1 -
20-33449739-C-G GGT7 c.558-374G>C - IntronicSNV - 3/14
6-33670028-A-T UQCC2 c.139-831T>A - IntronicSNV - 1/3
9-99236092-G-A HABP4 c.827+2716G>A - IntronicSNV - 5/7
12-56379060-A-T RAB5B c.1-1685A>T - IntronicSNV - 1/5
16-2244531-T-C CASKIN1 c.94+1809A>G - IntronicSNV - 1/19
11-66832528-G-A RHOD c.133-839G>A - IntronicSNV - 1/4
6-33755711-G-C LEMD2 c.736+447C>G - IntronicSNV - 1/8
17-21193618-G-A MAP2K3 c.49+5337G>A - IntronicSNV - 1/11
14-75536369-G-A ZC2HC1C c.-103G>A - 5_prime_UTR_variant 1/3 -
15-99217474-G-T IGF1R c.94+24570G>T - IntronicSNV - 1/20
16-56490549-G-A OGFOD1 c.301-1911G>A - IntronicSNV - 2/12
2-20096936-C-A TTC32 c.317-49G>T - IntronicSNV - 2/2
17-37832279-C-T PGAP3 c.433-1347G>A - IntronicSNV - 3/7
3-100432975-C-T TFG c.184+262C>T - IntronicSNV - 2/7
19-44952066-T-G ZNF229 c.-265-278A>C - intron_variant - 1/5
17-59479580-C-G TBX2 c.663+268C>G - IntronicSNV - 2/6
16-2260935-G-A BRICD5 c.1-101C>T - 5-UTRSNV 1/6 -
12-2324042-T-C CACNA1C c.477+94446T>C - IntronicSNV - 3/46
7-56120881-G-A CCT6A c.201+703G>A - IntronicSNV - 2/13
16-89851574-A-G FANCA c.1360-202T>C - IntronicSNV - 14/42
22-39797178-G-A TAB1 c.33+1338G>A - IntronicSNV - 1/10
19-19432811-T-C MAU2 c.276+867T>C - IntronicSNV - 1/18
22-39797178-G-C TAB1 c.33+1338G>C - IntronicSNV - 1/10
18-20880290-G-A TMEM241 c.831-2259C>T - IntronicSNV - 14/14
3-49890613-C-T TRAIP c.98+3176G>A - IntronicSNV - 1/14
11-47529947-C-A CELF1 c.1-19381G>T - IntronicSNV - 1/13
16-2145787-A-C PKD1 c.10496+1362T>G - IntronicSNV - 34/45
1-2531372-A-T MMEL1 c.1042-1143T>A - IntronicSNV - 11/23
3-49552295-T-C DAG1 c.285+4043T>C - IntronicSNV - 5/5
20-33987298-T-C UQCC1 c.25-5299A>G - IntronicSNV - 1/9
7-2768935-G-T GNA12 c.*1880C>A - 3-UTRSNV 4/4 -
1-110213514-A-G GSTM2 c.361-395A>G - IntronicSNV - 5/7
1-17423310-C-A PADI2 c.350-845G>T - IntronicSNV - 3/15
8-145691915-G-C KIFC2 c.99+14G>C - IntronicSNV - 1/16
8-145691915-G-T KIFC2 c.99+14G>T - IntronicSNV - 1/16
3-136027549-A-G PCCB c.966+7596A>G - IntronicSNV - 9/14
4-144442611-T-A SMARCA5 c.282T>A p.Tyr94* Nonsense 3/24 -
1-172323134-G-A DNM3 c.1894-25024G>A - IntronicSNV - 17/20
12-123642220-G-C MPHOSPH9 c.3451-765C>G - IntronicSNV - 23/23
2-27709965-A-G IFT172 c.40-1595T>C - IntronicSNV - 1/47
17-40835922-A-G CNTNAP1 c.151A>G p.Arg51Gly Missense 2/24 -
20-33987298-T-A UQCC1 c.25-5299A>T - IntronicSNV - 1/9
1-183989971-T-C COLGALT2 c.263+16258A>G - IntronicSNV - 1/11
17-30324293-A-C SUZ12 c.1874+397A>C - IntronicSNV - 15/15
1-110213514-A-T GSTM2 c.361-395A>T - IntronicSNV - 5/7
20-32245869-C-G NECAB3 c.969-30G>C - IntronicSNV - 11/12
16-28604686-A-G SULT1A2 c.500-19T>C - IntronicSNV - 5/7
16-72125733-A-C TXNL4B c.1-1085T>G - IntronicSNV - 1/3
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
17-43902997-G-A CRHR1 c.328-3584G>A - IntronicSNV - 4/13
14-24760764-G-A DHRS1 c.722C>T p.Thr241Ile Missense 7/9 -
4-18011202-A-G LCORL c.154+12019T>C - IntronicSNV - 1/6
4-144442611-T-C SMARCA5 c.282T>C p.Tyr94Tyr Synonymous 3/24 -
16-735921-T-C WDR24 c.1521A>G p.Ala507Ala Synonymous 5/9 -
14-24786976-T-G LTB4R c.*1060T>G - 3-UTRSNV 2/2 -
14-24786976-T-C LTB4R c.*1060T>C - 3-UTRSNV 2/2 -
16-769566-C-A METRN c.*2179C>A - IntergenicSNV 4/4 -
16-2239402-C-T CASKIN1 c.390+18G>A - IntronicSNV - 4/19
17-40286827-C-T RAB5C c.1-4307G>A - IntronicSNV - 1/5
7-1908727-G-C MAD1L1 c.1998+29109C>G - IntronicSNV - 18/18
7-1908727-G-A MAD1L1 c.1998+29109C>T - IntronicSNV - 18/18
17-38066372-T-C GSDMB c.408-195A>G - IntronicSNV - 2/7
17-40286827-C-G RAB5C c.1-4307G>C - IntronicSNV - 1/5
4-48663375-G-A FRYL c.-81+23315C>T - intron_variant - 3/63
17-5312672-C-T NUP88 c.681-443G>A - IntronicSNV - 4/16
3-12700211-A-G RAF1 c.-27+5101T>C - intron_variant - 1/16
3-12700211-A-C RAF1 c.-27+5101T>G - intron_variant - 1/16
1-224565178-C-G CNIH4 c.*1654C>G - IntergenicSNV 5/5 -
7-110915339-C-T IMMP2L c.239+211955G>A - IntronicSNV - 3/5
2-25334340-C-T EFR3B c.363+7684C>T - IntronicSNV - 4/22
1-2090095-T-A PRKCZ c.974+2564T>A - IntronicSNV - 10/17
9-127965017-G-A RABEPK c.1-276G>A - IntronicSNV 1/8 -
9-127965017-G-T RABEPK c.1-276G>T - IntronicSNV 1/8 -
1-2090095-T-G PRKCZ c.974+2564T>G - IntronicSNV - 10/17
17-36929578-C-T PIP4K2B c.808-2053G>A - IntronicSNV - 7/9
13-33277086-C-T PDS5B c.1856+1511C>T - IntronicSNV - 17/34
11-1977552-G-A MRPL23 c.364G>A p.Ala122Thr Missense 5/5 -
9-98250674-T-C PTCH1 c.395-2518A>G - IntronicSNV - 2/23
6-33653448-C-T ITPR3 c.5511C>T p.Gly1837Gly Synonymous 41/58 -
7-73097713-G-A DNAJC30 c.41C>T p.Pro14Leu Missense 1/1 -
19-2141209-C-T AP3D1 c.97-2496G>A - IntronicSNV - 1/31
15-74241624-A-T LOXL1 c.1603-176A>T - IntronicSNV - 5/6
5-74487714-G-A ANKRD31 c.1408+778C>T - IntronicSNV - 9/24
12-121288685-A-G SPPL3 c.24-39996T>C - IntronicSNV - 1/10
14-104001517-G-A TRMT61A c.*359G>A - 3-UTRSNV 4/4 -
17-40817448-G-A TUBG2 c.607-46G>A - IntronicSNV - 6/10
17-40817448-G-C TUBG2 c.607-46G>C - IntronicSNV - 6/10
15-41689166-C-G NDUFAF1 c.92G>C p.Arg31Pro Missense 2/5 -
16-1007461-A-T LMF1 c.194-2795T>A - IntronicSNV - 1/10
2-219902653-T-C CFAP65 c.357+444A>G - IntronicSNV - 4/34
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
22-39913420-C-T MIEF1 c.*3092C>T - 3-UTRSNV 6/6 -
14-35588296-A-C PPP2R3C c.59-2353T>G - IntronicSNV - 1/12
17-61918082-A-G SMARCD2 c.216+1737T>C - IntronicSNV - 1/12
1-113196896-G-T CAPZA1 c.220-191G>T - IntronicSNV - 4/9
16-57000284-G-A CETP c.234-3014G>A - IntronicSNV - 2/15
20-33020957-A-G ITCH c.645-5322A>G - IntronicSNV - 8/25
16-68061763-G-C DUS2 c.-19+2366G>C - intron_variant - 2/16
10-104414221-A-G TRIM8 c.571-189A>G - IntronicSNV - 1/5
6-142699948-A-C ADGRG6 c.1070-3140A>C - IntronicSNV - 4/24
19-19452763-G-A MAU2 c.735+547G>A - IntronicSNV - 7/18
15-41689166-C-T NDUFAF1 c.92G>A p.Arg31His Missense 2/5 -
15-41689166-C-A NDUFAF1 c.92G>T p.Arg31Leu Missense 2/5 -
12-123697531-T-A MPHOSPH9 c.1087+1760A>T - IntronicSNV - 7/23
19-19452763-G-T MAU2 c.735+547G>T - IntronicSNV - 7/18
8-145007989-A-G PLEC c.1344+177T>C - IntronicSNV - 13/32
1-17337391-G-A ATP13A2 c.10+833C>T - IntronicSNV - 1/28
1-113196896-G-A CAPZA1 c.220-191G>A - IntronicSNV - 4/9
19-45543787-C-T CLASRP c.99+218C>T - IntronicSNV - 2/20
6-34734809-T-A SNRPC c.161-876T>A - IntronicSNV - 3/5
17-27898828-T-C TP53I13 c.313-47T>C - IntronicSNV - 4/6
2-234185999-G-A ATG16L1 c.898-215G>A - IntronicSNV - 8/16
1-2095582-G-T PRKCZ c.975-5375G>T - IntronicSNV - 10/17
6-33767579-G-C MLN c.118-581C>G - IntronicSNV - 2/4
16-82188801-C-G MPHOSPH6 c.165-3682G>C - IntronicSNV - 2/4
16-82188801-C-T MPHOSPH6 c.165-3682G>A - IntronicSNV - 2/4
20-32299042-C-G PXMP4 c.177-483G>C - IntronicSNV - 2/3
6-33541719-A-G BAK1 c.532-35T>C - IntronicSNV - 5/5
20-32299042-C-A PXMP4 c.177-483G>T - IntronicSNV - 2/3
12-123728230-G-A C12orf65 c.1-9992G>A - IntronicSNV - 1/2
2-27677691-G-A IFT172 c.3372-164C>T - IntronicSNV - 30/47
16-56873789-T-C NUP93 c.2220+273T>C - IntronicSNV - 20/21
17-76677481-A-G CYTH1 c.892-357T>C - IntronicSNV - 10/12
14-23370197-G-C RBM23 c.*742C>G - 3-UTRSNV 14/14 -
10-104697781-C-G CNNM2 c.1621+17923C>G - IntronicSNV - 1/7
17-30218317-C-T UTP6 c.424+962G>A - IntronicSNV - 6/18
20-33716263-A-G EDEM2 c.845-2085T>C - IntronicSNV - 7/10
11-61618608-A-G FADS2 c.744+2852A>G - IntronicSNV - 5/11
16-88927221-T-C TRAPPC2L c.375-98T>C - IntronicSNV - 4/4
11-48050391-G-A PTPRJ c.96+47831G>A - IntronicSNV - 1/8
20-44539492-G-C PLTP c.200+299C>G - IntronicSNV - 3/15
12-11876394-A-T ETV6 c.34-28990A>T - IntronicSNV - 1/7
11-57004344-G-T APLNR c.135C>A p.Gly45Gly Synonymous 1/1 -
8-144993377-A-G PLEC c.10693T>C p.Leu3565Leu Synonymous 33/33 -
17-59485393-C-T TBX2 c.1687-22C>T - IntronicSNV - 6/6
10-91007360-T-G LIPA c.46A>C p.Thr16Pro Missense 2/10 -
11-66718431-C-G PC c.-1+1470G>C - intron_variant - 3/22
11-66718431-C-T PC c.-1+1470G>A - intron_variant - 3/22
20-34543125-G-A SCAND1 c.-547C>T - 5_prime_UTR_variant 1/3 -
22-37258503-T-A NCF4 c.32+1258T>A - IntronicSNV - 1/9
22-37258503-T-C NCF4 c.32+1258T>C - IntronicSNV - 1/9
20-62373079-G-T SLC2A4RG c.392-143G>T - IntronicSNV - 3/7
20-62373079-G-C SLC2A4RG c.392-143G>C - IntronicSNV - 3/7
8-10240202-G-C MSRA c.544-45456G>C - IntronicSNV - 5/5
8-10240202-G-T MSRA c.544-45456G>T - IntronicSNV - 5/5
16-737793-G-A WDR24 c.482-54C>T - IntronicSNV - 1/8
20-44639511-C-T MMP9 c.521-50C>T - IntronicSNV - 3/12
17-8161149-C-T PFAS c.1100C>T p.Pro367Leu Missense 10/28 -
3-135739341-C-T PPP2R3A c.1996-6333C>T - IntronicSNV - 2/13
16-28895130-A-G ATP2A1 c.464-766A>G - IntronicSNV - 5/22
4-39124750-C-A KLHL5 c.*2064C>A - 3-UTRSNV 12/12 -
6-167532793-A-G CCR6 c.-98+7291A>G - intron_variant - 1/2
6-34381937-A-G RPS10-NUDT3 c.456+4209T>C - IntronicSNV - 5/8
14-23376315-G-A RBM23 c.228-738C>T - IntronicSNV - 4/13
9-98217348-A-G PTCH1 c.3306+1210T>C - IntronicSNV - 19/23
9-98217348-A-C PTCH1 c.3306+1210T>G - IntronicSNV - 19/23
9-98217348-A-T PTCH1 c.3306+1210T>A - IntronicSNV - 19/23
2-24252436-A-G WDCP c.*1367T>C - 3-UTRSNV 4/4 -
22-38556260-T-G PLA2G6 c.209+8965A>C - IntronicSNV - 2/15
9-136137065-A-C ABO c.99-288T>G - IntronicSNV - 2/7
17-46495412-T-G SKAP1 c.46+12025A>C - IntronicSNV - 1/12
8-144993377-A-T PLEC c.10693T>A p.Leu3565Met Missense 33/33 -
6-167549326-G-C CCR6 c.1-297G>C - IntronicSNV 1/3 -
1-2104981-A-G PRKCZ c.1286-355A>G - IntronicSNV - 13/17
16-28895130-A-C ATP2A1 c.464-766A>C - IntronicSNV - 5/22
8-11702594-G-T CTSB c.*40C>A - 3-UTRSNV 12/12 -
8-11702594-G-C CTSB c.*40C>G - 3-UTRSNV 12/12 -
8-11702594-G-A CTSB c.*40C>T - 3-UTRSNV 12/12 -
7-158497277-C-G NCAPG2 c.-40+138G>C - intron_variant - 1/27
7-158497277-C-T NCAPG2 c.-40+138G>A - intron_variant - 1/27
19-19650096-A-G CILP2 c.65-392A>G - IntronicSNV - 1/7
14-23370197-G-A RBM23 c.*742C>T - 3-UTRSNV 14/14 -
16-716798-C-T WDR90 c.5004+6C>T - IntronicSNV - 39/40
10-126846214-A-T CTBP2 c.-206+3182T>A - intron_variant - 1/10
13-115006932-T-C CDC16 c.382-664T>C - IntronicSNV - 5/18
6-33743264-C-T LEMD2 c.1361+1467G>A - IntronicSNV - 8/8
14-24839083-G-C NFATC4 c.479G>C p.Gly160Ala Missense 2/10 -
1-2047547-G-A PRKCZ c.335-19154G>A - IntronicSNV - 4/17
3-53127876-A-G RFT1 c.1209-1242T>C - IntronicSNV - 11/12
11-48050391-G-C PTPRJ c.96+47831G>C - IntronicSNV - 1/8
3-196044894-G-C TCTEX1D2 c.113+17C>G - IntronicSNV - 1/4
3-196044894-G-A TCTEX1D2 c.113+17C>T - IntronicSNV - 1/4
3-49821625-T-C IP6K1 c.-129+2162A>G - intron_variant - 1/5
20-44574533-C-T PCIF1 c.1341+11C>T - IntronicSNV - 12/16
16-68317061-T-C SLC7A6 c.524-4588T>C - IntronicSNV - 3/10
5-131676320-C-T SLC22A4 c.1507C>T p.Leu503Phe Missense 9/10 -
11-14331627-C-A RRAS2 c.109-14226G>T - IntronicSNV - 1/5
11-14331627-C-T RRAS2 c.109-14226G>A - IntronicSNV - 1/5
2-24787768-G-A NCOA1 c.-259-19577G>A - intron_variant - 1/22
2-24787768-G-C NCOA1 c.-259-19577G>C - intron_variant - 1/22
8-145008560-A-G PLEC c.1176T>C p.Asp392Asp Synonymous 12/33 -
12-58162739-A-G METTL1 c.*40T>C - 3-UTRSNV 6/6 -
8-11629852-A-G NEIL2 c.138+758A>G - IntronicSNV - 2/4
12-123750748-G-C CDK2AP1 c.154-879C>G - IntronicSNV - 2/3
8-10285497-C-T MSRA c.544-161C>T - IntronicSNV - 5/5
16-67617186-A-G CTCF c.-10+12019A>G - intron_variant - 2/11
17-46989154-A-G UBE2Z c.390+912A>G - IntronicSNV - 2/6
12-123735937-G-A C12orf65 c.1-2285G>A - IntronicSNV - 1/2
1-23471096-G-T LUZP1 c.-292+24163C>A - intron_variant - 1/4
2-203032111-G-A KIAA2012 c.2119+2032G>A - intron_variant - 15/23
11-116640768-G-A BUD13 c.237+77C>T - IntronicSNV - 2/9
10-104897901-T-C NT5C2 c.175+1262A>G - IntronicSNV - 4/18
9-139120043-C-G QSOX2 c.329-1323G>C - IntronicSNV - 1/11
3-52568805-G-T NT5DC2 c.1-136C>A - 5-UTRSNV 1/14 -
19-45253582-G-A BCL3 c.257-902G>A - IntronicSNV - 1/8
1-2195117-C-T SKI c.969+33943C>T - IntronicSNV - 1/6
17-37822311-A-G TCAP c.453A>G p.Ala151Ala Synonymous 2/2 -
17-37822311-A-C TCAP c.453A>C p.Ala151Ala Synonymous 2/2 -
1-2195117-C-G SKI c.969+33943C>G - IntronicSNV - 1/6
16-72058881-A-G DHODH c.*783A>G - 3-UTRSNV 9/9 -
11-95503636-T-C FAM76B c.*1089A>G - 3-UTRSNV 10/10 -
11-124612932-A-G NRGN c.16-2467A>G - IntronicSNV - 1/3
3-50678280-G-C MAPKAPK3 c.359+344G>C - IntronicSNV - 3/10
20-33880146-T-A FAM83C c.1-39A>T - 5-UTRSNV 1/4 -
20-33437621-G-A GGT7 c.1825+143C>T - IntronicSNV - 14/14
9-98248328-A-G PTCH1 c.395-172T>C - IntronicSNV - 2/23
1-16060678-T-C PLEKHM2 c.*249T>C - 3-UTRSNV 20/20 -
11-65767862-C-T EIF1AD c.1-2G>A - 5-UTRSNV - 1/5
15-74275170-A-G STOML1 c.*1108T>C - IntergenicSNV 7/7 -
16-633354-G-A PIGQ c.*319G>A - 3-UTRSNV 11/11 -
7-2037215-G-A MAD1L1 c.1416+4485C>T - IntronicSNV - 14/18
20-62373079-G-A SLC2A4RG c.392-143G>A - IntronicSNV - 3/7
1-2539796-C-T MMEL1 c.535+982G>A - IntronicSNV - 6/23
9-139265870-G-A CARD9 c.228C>T p.Tyr76Tyr Synonymous 3/13 -
8-145022657-G-T PLEC c.194-9797C>A - IntronicSNV - 2/32
20-33733078-T-C EDEM2 c.219-257A>G - IntronicSNV - 2/10
8-145022657-G-A PLEC c.194-9797C>T - IntronicSNV - 2/32
16-2329261-C-T ABCA3 c.4360-130G>A - IntronicSNV - 28/32
5-179731014-T-C GFPT2 c.1842+758A>G - IntronicSNV - 17/18
17-47092076-C-G IGF2BP1 c.237-10904C>G - IntronicSNV - 2/14
18-21146085-C-T NPC1 c.463+2702G>A - IntronicSNV - 4/24
3-50644134-C-T CISH c.*904G>A - 3-UTRSNV 3/3 -
1-114420462-G-A BCL2L15 c.*3283C>T - 3-UTRSNV 4/4 -
1-41493111-A-G SCMH1 c.*755T>C - 3-UTRSNV 16/16 -
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
6-50803050-A-G TFAP2B c.602-724A>G - IntronicSNV - 3/6
1-47056227-T-C MKNK1 c.-3+3558A>G - intron_variant - 2/13
19-46172278-G-A GIPR c.1-501G>A - IntronicSNV - 1/13
7-2843161-C-G GNA12 c.310-8384G>C - IntronicSNV - 1/3
11-61581656-G-A FADS1 c.376-831C>T - IntronicSNV - 1/11
17-18023897-G-T MYO15A c.1783G>T p.Ala595Ser Missense 2/66 -
17-18023897-G-A MYO15A c.1783G>A p.Ala595Thr Missense 2/66 -
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
16-81579729-C-T CMIP c.18+50630C>T - IntronicSNV - 1/20
16-81579729-C-G CMIP c.18+50630C>G - IntronicSNV - 1/20
3-52785238-A-G NEK4 c.1368+710T>C - IntronicSNV - 7/15
2-27657167-T-C NRBP1 c.436-171T>C - IntronicSNV - 4/17
3-10164783-A-G BRK1 c.119-2527A>G - IntronicSNV - 1/2
7-150667210-C-A KCNH2 c.307+4589G>T - IntronicSNV - 2/14
7-1886865-C-A MAD1L1 c.1999-31001G>T - IntronicSNV - 18/18
5-131595784-T-C PDLIM4 c.93+2264T>C - IntronicSNV - 1/6
5-131595784-T-A PDLIM4 c.93+2264T>A - IntronicSNV - 1/6
5-178542757-T-C ADAMTS2 c.3179-1432A>G - IntronicSNV - 21/21
18-21044607-G-A RIOK3 c.543+15G>A - IntronicSNV - 5/12
18-77222862-T-G NFATC1 c.1959+1496T>G - IntronicSNV - 7/7
11-47336442-G-C MADD c.3961-329G>C - IntronicSNV - 26/32
10-104008751-G-A GBF1 c.-11+3213G>A - intron_variant - 1/39
7-2139990-G-A MAD1L1 c.1074-31017C>T - IntronicSNV - 11/18
8-145058986-A-G PARP10 c.1184T>C p.Leu395Pro Missense 5/11 -
16-67879827-C-G CENPT c.-492+1477G>C - intron_variant - 1/15
20-32265839-A-G E2F1 c.725+168T>C - IntronicSNV - 4/6
16-67854482-T-G TSNAXIP1 c.1-275T>G - IntronicSNV 1/16 -
19-19568659-T-C GATAD2A c.1-7496T>C - IntronicSNV - 1/11
1-46806393-T-C NSUN4 c.1-106T>C - 5-UTRSNV 1/6 -
1-2534978-G-A MMEL1 c.1041+345C>T - IntronicSNV - 11/23
17-80893271-C-T TBCD c.3192-1876C>T - IntronicSNV - 34/38
1-46493460-T-G MAST2 c.1977T>G p.Ile659Met Missense 17/29 -
1-204601875-C-T LRRN2 c.1-12755G>A - IntronicSNV - 2/2
11-57452021-G-A ZDHHC5 c.226+2006G>A - IntronicSNV - 3/11
17-7452977-C-T TNFSF12 c.207+139C>T - IntronicSNV - 2/6
3-52780509-A-T NEK4 c.1677+241T>A - IntronicSNV - 9/15
5-130689713-A-T CDC42SE2 c.1-5474A>T - IntronicSNV - 2/5
4-57781754-A-G REST c.898+4052A>G - IntronicSNV - 2/3
7-2814635-C-T GNA12 c.525+19927G>A - IntronicSNV - 2/3
16-50383077-C-T BRD7 c.591+857G>A - IntronicSNV - 5/16
9-137256078-G-A RXRA c.29-37400G>A - IntronicSNV - 1/9
4-2901600-C-T ADD1 c.1161+438C>T - IntronicSNV - 9/14
2-219538799-A-C STK36 c.303+120A>C - IntronicSNV - 4/26
16-50743331-G-A NOD2 c.647-1138G>A - IntronicSNV - 3/11
3-191050605-G-A CCDC50 c.49+3093G>A - IntronicSNV - 1/10
12-122611200-G-T MLXIP c.414-603G>T - intron_variant - 1/16
3-53066280-G-C SFMBT1 c.-131+13552C>G - intron_variant - 1/20
5-130689713-A-G CDC42SE2 c.1-5474A>G - IntronicSNV - 2/5
7-2777825-A-G GNA12 c.526-4690T>C - IntronicSNV - 2/3
20-33382665-T-G NCOA6 c.-163-2299A>C - intron_variant - 1/14
2-100743492-G-C AFF3 c.-145+15454C>G - intron_variant - 1/23
3-52959216-G-A SFMBT1 c.1131+831C>T - IntronicSNV - 10/20
12-94108529-G-A CRADD c.298+35681G>A - IntronicSNV - 2/2
1-114185855-C-A MAGI3 c.1967-510C>A - IntronicSNV - 10/20
2-219543433-T-C STK36 c.685-458T>C - IntronicSNV - 6/26
1-46024526-A-G AKR1A1 c.1-2941A>G - IntronicSNV - 2/9
19-19656615-C-T CILP2 c.3261C>T p.Gly1087Gly Synonymous 8/8 -
1-2531372-A-C MMEL1 c.1042-1143T>G - IntronicSNV - 11/23
6-35424188-A-T FANCE c.855+58A>T - IntronicSNV - 2/9
6-35424188-A-G FANCE c.855+58A>G - IntronicSNV - 2/9
16-28993049-A-C SPNS1 c.809+113A>C - IntronicSNV - 6/11
4-48860817-A-G OCIAD1 c.700+1435A>G - IntronicSNV - 8/8
19-10723019-T-G SLC44A2 c.31+9782T>G - IntronicSNV - 1/21
1-2525660-G-T MMEL1 c.1747+164C>A - IntronicSNV - 18/23
12-123677810-A-T MPHOSPH9 c.2241+1123T>A - IntronicSNV - 13/23
19-4913648-A-T UHRF1 c.153+2598A>T - IntronicSNV - 2/17
17-43173273-T-C NMT1 c.505-289T>C - IntronicSNV - 4/11
8-145744618-G-A LRRC14 c.1-492G>A - IntronicSNV - 1/3
9-95180558-G-A CENPP c.564+38417G>A - IntronicSNV - 5/7
4-48489267-T-C SLC10A4 c.802-1177T>C - IntronicSNV - 2/2
12-123677810-A-G MPHOSPH9 c.2241+1123T>C - IntronicSNV - 13/23
12-49318546-G-A FKBP11 c.196-115C>T - IntronicSNV - 2/5
4-1234028-C-G CTBP1 c.41-1903G>C - IntronicSNV - 1/8
3-52561779-C-T NT5DC2 c.825-45G>A - IntronicSNV - 8/13
17-80161081-A-C CCDC57 c.1-1261T>G - IntronicSNV - 1/16
3-52752075-T-G NEK4 c.2434-6190A>C - IntronicSNV - 15/15
17-62008318-T-C CD79B c.118+377A>G - IntronicSNV - 2/5
1-113217311-G-T MOV10 c.-122G>T - 5_prime_UTR_variant 1/21 -
2-85788175-T-A GGCX c.44-67A>T - IntronicSNV - 1/14
2-85788175-T-C GGCX c.44-67A>G - IntronicSNV - 1/14
16-1036640-T-C SOX8 c.*1254T>C - 3-UTRSNV 3/3 -
8-145046662-C-G PLEC c.193+2683G>C - IntronicSNV - 2/32
12-123528405-G-A PITPNM2 c.1-9268C>T - IntronicSNV - 1/24
5-131677047-G-T SLC22A4 c.1580+654G>T - IntronicSNV - 9/9
19-45404691-A-T TOMM40 c.946+124A>T - IntronicSNV - 9/9
1-17287414-T-C CROCC c.4194T>C p.Ala1398Ala Synonymous 27/37 -
5-55444683-G-A ANKRD55 c.484-4927C>T - IntronicSNV - 6/11
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 -
2-219608654-A-G TTLL4 c.1662-1178A>G - IntronicSNV - 5/19
3-52558133-T-G STAB1 c.7560T>G p.Asp2520Glu Missense 68/69 -
20-47874005-A-T ZNFX1 c.2613T>A p.His871Gln Missense 8/14 -
20-47874005-A-G ZNFX1 c.2613T>C p.His871His Synonymous 8/14 -
17-43141756-A-G NMT1 c.131+2928A>G - IntronicSNV - 1/11
2-100729293-T-G AFF3 c.-144-7248A>C - intron_variant - 1/23
1-93741025-C-T CCDC18 c.3886-2995C>T - IntronicSNV - 27/27
17-44812188-C-T NSF c.1908+5888C>T - IntronicSNV - 17/20
10-104456686-T-C ARL3 c.264+2444A>G - IntronicSNV - 3/5
5-56221938-T-C MIER3 c.922-2069A>G - IntronicSNV - 10/12
5-56221938-T-A MIER3 c.922-2069A>T - IntronicSNV - 10/12
11-74489069-C-T RNF169 c.503-11602C>T - IntronicSNV - 1/5
2-203093176-A-T SUMO1 c.13-8347T>A - IntronicSNV - 1/4
20-33871661-T-C EIF6 c.193+318A>G - IntronicSNV - 3/6
8-145046662-C-T PLEC c.193+2683G>A - IntronicSNV - 2/32
5-131677047-G-A SLC22A4 c.1580+654G>A - IntronicSNV - 9/9
12-56689535-G-C CS c.42+4409C>G - IntronicSNV - 1/10
12-56689535-G-A CS c.42+4409C>T - IntronicSNV - 1/10
12-123593485-T-A PITPNM2 c.-96+1447A>T - intron_variant - 1/24
3-52952433-C-T SFMBT1 c.1415+67G>A - IntronicSNV - 13/20
3-52952433-C-A SFMBT1 c.1415+67G>T - IntronicSNV - 13/20
20-33081906-C-A ITCH c.2539+1504C>A - IntronicSNV - 24/25
16-68104422-T-C DUS2 c.641+299T>C - IntronicSNV - 11/16
6-33384473-C-T CUTA c.425G>A p.Arg142His Missense 5/5 -
16-4015729-C-T ADCY9 c.*47G>A - 3-UTRSNV 11/11 -
2-100620017-C-T AFF3 c.873+3077G>A - IntronicSNV - 6/23
17-62008318-T-G CD79B c.118+377A>C - IntronicSNV - 2/5
15-89851580-G-A FANCI c.3471+677G>A - IntronicSNV - 33/36
16-67644173-G-A CTCF c.1-563G>A - IntronicSNV - 2/11
1-119574074-G-T WARS2 c.*1460C>A - 3-UTRSNV 6/6 -
11-12758660-C-T TEAD1 c.1-27120C>T - IntronicSNV - 2/12
3-12638730-C-A RAF1 c.1108+2460G>T - IntronicSNV - 10/16
3-134200682-C-T ANAPC13 c.99+966G>A - IntronicSNV - 2/2
6-142481723-C-T VTA1 c.113-5642C>T - IntronicSNV - 1/7
2-224890840-C-A SERPINE2 c.-23+12976G>T - intron_variant - 1/8
5-131672657-T-C SLC22A4 c.1444+964T>C - IntronicSNV - 8/9
6-116840536-G-A TRAPPC3L c.241-18707C>T - IntronicSNV - 3/4
1-27052710-A-G ARID1A c.1138-3432A>G - IntronicSNV - 1/19
10-91002804-C-T LIPA c.229+2629G>A - IntronicSNV - 3/9
14-104023704-C-T BAG5 c.*2454G>A - 3-UTRSNV 2/2 -
9-95792388-C-T FGD3 c.1680+110C>T - IntronicSNV - 15/17
9-95792388-C-A FGD3 c.1680+110C>A - IntronicSNV - 15/17
2-219231012-A-G CATIP c.756-735A>G - IntronicSNV - 7/9
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
8-10668751-T-A PINX1 c.471+8952A>T - IntronicSNV - 6/6
10-104368294-A-G SUFU c.1023-6731A>G - IntronicSNV - 8/11
16-68086105-A-G DUS2 c.173-1362A>G - IntronicSNV - 4/16
6-35709678-C-A ARMC12 c.525+3383C>A - IntronicSNV - 3/5
6-109994310-T-C AK9 c.182-940A>G - IntronicSNV - 3/40
17-46495412-T-A SKAP1 c.46+12025A>T - IntronicSNV - 1/12
5-131608794-T-G PDLIM4 c.*872T>G - 3-UTRSNV 7/7 -
15-75770521-G-T PTPN9 c.1129+1668C>A - IntronicSNV - 9/12
11-59945745-T-C MS4A6A c.411A>G p.Leu137Leu Synonymous 5/7 -
17-38080865-A-G ORMDL3 c.1-409T>C - IntronicSNV - 1/3
8-145750506-G-C LRRC24 c.1-148C>G - IntronicSNV - 1/4
6-116731075-G-T DSE c.416+10246G>T - IntronicSNV - 2/5
2-219360065-A-C USP37 c.1472+418T>G - IntronicSNV - 14/25
2-219360065-A-G USP37 c.1472+418T>C - IntronicSNV - 14/25
3-141125439-T-C ZBTB38 c.-1+2566T>C - intron_variant - 7/7
5-60234242-A-G ERCC8 c.77+6517T>C - IntronicSNV - 1/11
17-5312672-C-G NUP88 c.681-443G>C - IntronicSNV - 4/16
3-48670827-G-T SLC26A6 c.183-4C>A - IntronicSNV - 2/20
16-68205656-A-G NFATC3 c.1775-2621A>G - IntronicSNV - 5/10
11-119005132-C-T HINFP c.1478C>T p.Ala493Val Missense 11/11 -
19-19592232-T-G GATAD2A c.270-10883T>G - IntronicSNV - 2/11
19-19592232-T-A GATAD2A c.270-10883T>A - IntronicSNV - 2/11
19-19566255-T-C GATAD2A c.1-9900T>C - IntronicSNV - 1/11
17-30547537-G-A RHOT1 c.1740-4098G>A - IntronicSNV - 18/18
7-75163169-A-G HIP1 c.*4324T>C - 3-UTRSNV 31/31 -
8-145750506-G-A LRRC24 c.1-148C>T - IntronicSNV - 1/4
11-47380061-A-C SPI1 c.493+334T>G - IntronicSNV - 4/4
6-116731075-G-A DSE c.416+10246G>A - IntronicSNV - 2/5
18-55215573-A-C FECH c.*2371T>G - 3-UTRSNV 11/11 -
20-33385102-G-C NCOA6 c.-163-4736C>G - intron_variant - 1/14
15-41794454-C-T ITPKA c.1008+55C>T - IntronicSNV - 4/6
11-85435730-C-T SYTL2 c.4671G>A - synonymous_variant 8/20 -
14-24796813-A-C ADCY4 c.1525-1265T>G - IntronicSNV - 10/24
2-219293326-C-T VIL1 c.567+266C>T - IntronicSNV - 6/19
7-143081942-G-C ZYX c.1023+1527G>C - IntronicSNV - 5/9
10-104824324-T-A CNNM2 c.2074-4062T>A - IntronicSNV - 4/7
14-104111794-C-T KLC1 c.1-9108C>T - IntronicSNV - 1/14
14-24796813-A-T ADCY4 c.1525-1265T>A - IntronicSNV - 10/24
14-24796813-A-G ADCY4 c.1525-1265T>C - IntronicSNV - 10/24
3-41260369-C-T CTNNB1 c.1-5191C>T - IntronicSNV - 1/15
15-78826948-T-C HYKK c.*936T>C - IntergenicSNV 5/5 -
2-85808982-T-G VAMP8 c.*143T>G - 3-UTRSNV 3/3 -
2-85808982-T-C VAMP8 c.*143T>C - 3-UTRSNV 3/3 -
15-89056040-C-A DET1 c.*142G>T - 3-UTRSNV 6/6 -
12-122231573-C-T RHOF c.1-34G>A - 5-UTRSNV 1/5 -
3-52244051-A-T ALAS1 c.1331-1248A>T - IntronicSNV - 9/11
10-91007470-C-A LIPA c.1-65G>T - IntronicSNV - 1/9
3-52244051-A-C ALAS1 c.1331-1248A>C - IntronicSNV - 9/11
17-59479580-C-T TBX2 c.663+268C>T - IntronicSNV - 2/6
4-122749541-C-A BBS7 c.1890+16G>T - IntronicSNV - 17/17
14-24839083-G-A NFATC4 c.479G>A p.Gly160Asp Missense 2/10 -
4-122749541-C-T BBS7 c.1890+16G>A - IntronicSNV - 17/17
5-131705458-C-G SLC22A5 c.1-207C>G - 5-UTRSNV 1/10 -
1-172244386-T-A DNM3 c.1769+21564T>A - IntronicSNV - 15/20
1-172244386-T-G DNM3 c.1769+21564T>G - IntronicSNV - 15/20
2-27655447-T-G NRBP1 c.1-694T>G - IntronicSNV - 1/17
16-67208048-C-T NOL3 c.1-25C>T - IntronicSNV 1/4 -
1-46806393-T-G NSUN4 c.1-106T>G - 5-UTRSNV 1/6 -
18-77226947-A-G NFATC1 c.1960-503A>G - IntronicSNV - 7/7
9-139257147-G-C DNLZ c.368+294C>G - IntronicSNV - 2/2
8-135565420-T-C ZFAT c.2940+12156A>G - IntronicSNV - 12/16
19-1055718-C-T ABCA7 c.4206-188C>T - IntronicSNV - 30/46
10-104387019-T-C SUFU c.1365+19T>C - IntronicSNV - 11/11
17-38064876-G-A GSDMB c.661+335C>T - IntronicSNV - 4/7
2-25276284-G-A EFR3B c.7+11096G>A - IntronicSNV - 1/22
1-183029070-T-G LAMC1 c.418+35801T>G - IntronicSNV - 1/27
2-27705437-T-C IFT172 c.570+719A>G - IntronicSNV - 7/47
17-48625928-C-G SPATA20 c.310C>G p.Gln104Glu Missense 4/17 -
22-39797779-G-A TAB1 c.33+1939G>A - IntronicSNV - 1/10
11-47716324-G-C AGBL2 c.695-2516C>G - IntronicSNV - 8/18
7-6475799-T-C DAGLB c.419+194A>G - IntronicSNV - 3/14
19-10793749-A-C ILF3 c.1549-52A>C - IntronicSNV - 13/17
16-711905-A-G WDR90 c.3879A>G p.Pro1293Pro Synonymous 32/41 -
16-75438761-A-G CFDP1 c.530+6962T>C - IntronicSNV - 4/6
20-44643111-G-C MMP9 c.2003G>C p.Arg668Pro Missense 12/13 -
19-10793749-A-G ILF3 c.1549-52A>G - IntronicSNV - 13/17
1-26517794-A-G CATSPER4 c.230A>G p.Gln77Arg Missense 2/10 -
6-33410139-T-C SYNGAP1 c.2295-91T>C - IntronicSNV - 13/18
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
19-11004833-C-T CARM1 c.221-10794C>T - IntronicSNV - 1/15
19-19786099-A-G ZNF101 c.4-2574A>G - IntronicSNV - 1/3
7-91842554-T-C KRIT1 c.1836A>G p.Val612Val Synonymous 15/17 -
1-85029077-C-T CTBS c.820G>A p.Val274Ile Missense 6/7 -
19-10466123-C-T TYK2 c.2618-838G>A - IntronicSNV - 18/24
8-145040856-G-T PLEC c.193+8489C>A - IntronicSNV - 2/32
5-96252589-T-C ERAP2 c.2740-577T>C - IntronicSNV - 18/18
10-104623578-C-T BORCS7 c.*100C>T - 3_prime_UTR_variant 6/6 -
7-1966492-G-C MAD1L1 c.1807+9831C>G - IntronicSNV - 17/18
1-114423653-C-T BCL2L15 c.*92G>A - 3-UTRSNV 4/4 -
6-33606523-C-T ITPR3 c.90-1738C>T - IntronicSNV - 1/57
8-145703413-T-A PPP1R16A c.-1108T>A - 5_prime_UTR_variant 1/13 -
10-104261359-C-T ACTR1A c.48+998G>A - IntronicSNV - 1/10
2-219972375-G-C NHEJ1 c.589-29447C>G - IntronicSNV - 5/7
1-2047547-G-C PRKCZ c.335-19154G>C - IntronicSNV - 4/17
16-67955554-G-C PSKH1 c.958-5674G>C - IntronicSNV - 2/2
5-173320815-G-A CPEB4 c.1125+2954G>A - IntronicSNV - 1/9
1-2071765-A-T PRKCZ c.421-3884A>T - IntronicSNV - 5/17
16-1889645-C-T FAHD1 c.*391C>T - 3_prime_UTR_variant 3/3 -
20-33857544-C-G MMP24 c.1195-19C>G - IntronicSNV - 6/8
2-109206464-T-G LIMS1 c.-5+1583T>G - intron_variant - 1/9
9-27193847-A-G TEK c.1624+1226A>G - IntronicSNV - 11/22
11-65064690-G-A POLA2 c.1747G>A p.Gly583Arg Missense 18/18 -
11-119005132-C-G HINFP c.1478C>G p.Ala493Gly Missense 11/11 -
3-56630653-A-G CCDC66 c.1302+2597A>G - IntronicSNV - 10/17
2-27715416-C-T FNDC4 c.670-71G>A - IntronicSNV - 6/6
4-144303897-G-A GAB1 c.73-32733G>A - IntronicSNV - 1/9
7-2768864-T-C GNA12 c.*1951A>G - 3-UTRSNV 4/4 -
7-2768864-T-A GNA12 c.*1951A>T - 3-UTRSNV 4/4 -
17-66284635-T-G SLC16A6 c.-8+2592A>C - intron_variant - 1/5
17-40861424-G-A EZH1 c.1493+440C>T - IntronicSNV - 13/20
17-40835649-T-C CNTNAP1 c.68-190T>C - IntronicSNV - 1/23
7-21498621-C-G SP4 c.1679-18076C>G - IntronicSNV - 3/5
4-122769967-T-C BBS7 c.934+32A>G - IntronicSNV - 9/17
19-19619317-T-C GATAD2A c.*3034T>C - 3-UTRSNV 12/12 -
16-67955554-G-A PSKH1 c.958-5674G>A - IntronicSNV - 2/2
6-116840536-G-C TRAPPC3L c.241-18707C>G - IntronicSNV - 3/4
12-121441333-T-C C12orf43 c.*623A>G - 3-UTRSNV 6/6 -
1-2071765-A-G PRKCZ c.421-3884A>G - IntronicSNV - 5/17
17-7732957-A-C DNAH2 c.11854-661A>C - IntronicSNV - 77/85
11-65064690-G-T POLA2 c.1747G>T p.Gly583Trp Missense 18/18 -
2-68385955-C-T PNO1 c.357+294C>T - IntronicSNV - 2/6
5-173318254-A-G CPEB4 c.1125+393A>G - IntronicSNV - 1/9
9-139323311-T-C INPP5E c.*816A>G - 3-UTRSNV 10/10 -
2-46800150-C-T RHOQ c.202-3076C>T - IntronicSNV - 2/4
15-72161403-T-C MYO9A c.5980-6451A>G - IntronicSNV - 32/41
1-150437395-G-A RPRD2 c.1612+192G>A - IntronicSNV - 10/10
17-37836353-T-C PGAP3 c.432+4497A>G - IntronicSNV - 3/7
7-2811543-T-C GNA12 c.525+23019A>G - IntronicSNV - 2/3
19-10793749-A-T ILF3 c.1549-52A>T - IntronicSNV - 13/17
14-56146694-G-T KTN1 c.4069+291G>T - IntronicSNV - 43/43
22-41548008-A-G EP300 c.2989A>G p.Ile997Val Missense 15/31 -
17-37631924-G-A CDK12 c.1931+3908G>A - IntronicSNV - 2/13
14-56146694-G-A KTN1 c.4069+291G>A - IntronicSNV - 43/43
3-56630653-A-C CCDC66 c.1302+2597A>C - IntronicSNV - 10/17
6-47461913-C-A CD2AP c.5-9103C>A - IntronicSNV - 1/17
17-30183857-T-C COPRS c.127A>G p.Ser43Gly Missense 2/4 -
20-35869619-C-T RPN2 c.1884-87C>T - IntronicSNV - 16/16
1-45478433-C-T UROD c.21-146C>T - IntronicSNV - 1/9
11-66362997-A-T CCS c.112+1812A>T - IntronicSNV - 2/7
5-131597392-A-G PDLIM4 c.94-910A>G - IntronicSNV - 1/6
4-57841213-G-C NOA1 c.1145-1025C>G - IntronicSNV - 1/6
17-37921742-C-T IKZF3 c.*301G>A - 3-UTRSNV 8/8 -
14-23369294-C-A RBM23 c.*1645G>T - IntergenicSNV 14/14 -
3-50210289-C-A SEMA3F c.113-937C>A - IntronicSNV - 2/18
14-23369294-C-G RBM23 c.*1645G>C - IntergenicSNV 14/14 -
5-130766662-T-C RAPGEF6 c.4355A>G p.Gln1452Arg Missense 26/28 -
9-98235310-T-C PTCH1 c.1728+3006A>G - IntronicSNV - 12/23
2-100659409-C-T AFF3 c.54-34015G>A - IntronicSNV - 3/23
17-47014127-T-C SNF8 c.349+255A>G - IntronicSNV - 4/7
6-152129077-T-C ESR1 c.30T>C p.Ser10Ser Synonymous 1/8 -
14-104149475-A-G KLC1 c.1651-1848A>G - IntronicSNV - 13/14
16-3634746-C-A SLX4 c.4739+24G>T - IntronicSNV - 13/14
2-220113728-G-A STK16 c.*447G>A - 3-UTRSNV 8/8 -
16-50820406-C-T CYLD c.1941-360C>T - IntronicSNV - 11/17
4-57841213-G-T NOA1 c.1145-1025C>A - IntronicSNV - 1/6
20-33819415-A-G MMP24 c.246+4628A>G - IntronicSNV - 1/8
9-99174531-C-T ZNF367 c.420+5364G>A - IntronicSNV - 1/4
19-2177193-C-T DOT1L c.82-3519C>T - IntronicSNV - 1/27
19-19358207-C-T NCAN c.3638-1302C>T - IntronicSNV - 13/14
15-85149575-T-C ZSCAN2 c.407-185T>C - IntronicSNV - 2/2
11-47716381-T-G AGBL2 c.695-2573A>C - IntronicSNV - 8/18
11-47383275-T-C SPI1 c.143-1684A>G - IntronicSNV - 2/4
9-139286844-G-C SNAPC4 c.810+130C>G - IntronicSNV - 8/22
11-126228000-C-T ST3GAL4 c.-61+1803C>T - intron_variant - 1/10
17-37580704-C-G MED1 c.851+176G>C - IntronicSNV - 11/16
12-58239548-T-C CTDSP2 c.64+607A>G - IntronicSNV - 1/7
15-72553422-T-C PARP6 c.546-393A>G - IntronicSNV - 9/23
8-145744429-C-T LRRC14 c.1-681C>T - IntronicSNV - 1/3
7-2830498-C-T GNA12 c.525+4064G>A - IntronicSNV - 2/3
2-1746140-T-G PXDN c.200+1888A>C - IntronicSNV - 1/22
10-59954081-C-T IPMK c.*1756G>A - 3-UTRSNV 6/6 -
15-85190470-G-T WDR73 c.352+651C>A - IntronicSNV - 5/7
3-183540485-T-C MAP6D1 c.401+2450A>G - IntronicSNV - 1/2
3-183540485-T-A MAP6D1 c.401+2450A>T - IntronicSNV - 1/2
3-52868445-G-A MUSTN1 c.9+511C>T - IntronicSNV - 1/2
4-38690049-G-A KLF3 c.58-157G>A - IntronicSNV - 2/5
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
19-2177193-C-A DOT1L c.82-3519C>A - IntronicSNV - 1/27
19-2177193-C-G DOT1L c.82-3519C>G - IntronicSNV - 1/27
16-56535059-A-G BBS2 c.1226-122T>C - IntronicSNV - 10/16
1-72712607-A-T NEGR1 c.176+35395T>A - IntronicSNV - 1/6
11-57004344-G-A APLNR c.135C>T p.Gly45Gly Synonymous 1/1 -
16-89950901-G-A TCF25 c.355-89G>A - IntronicSNV - 2/17
16-57054086-C-T NLRC5 c.1-539C>T - IntronicSNV - 1/47
16-57054086-C-G NLRC5 c.1-539C>G - IntronicSNV - 1/47
8-23418444-A-C SLC25A37 c.211-5177A>C - IntronicSNV - 1/3
1-17298496-A-G CROCC c.5967+354A>G - IntronicSNV - 36/36
3-133910492-A-G RYK c.1018+201T>C - intron_variant - 10/16
14-92339850-G-A FBLN5 c.1186-3121C>T - IntronicSNV - 10/10
11-118992502-T-G HINFP c.-128+153T>G - intron_variant - 1/10
3-49427319-G-A RHOA c.1-14297C>T - IntronicSNV - 1/4
17-61780793-G-A STRADA c.*166C>T - 3-UTRSNV 11/11 -
3-50210289-C-G SEMA3F c.113-937C>G - IntronicSNV - 2/18
3-50210289-C-T SEMA3F c.113-937C>T - IntronicSNV - 2/18
16-50745926-C-T NOD2 c.2104C>T p.Arg702Trp Missense 4/12 -
12-123447928-T-C ABCB9 c.-88+2906A>G - intron_variant - 1/10
19-4060707-C-G ZBTB7A c.1-5477G>C - IntronicSNV - 1/2
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12
16-20909404-C-T DCUN1D3 c.-106+2122G>A - intron_variant - 1/2
17-40835922-A-C CNTNAP1 c.151A>C p.Arg51Arg Synonymous 2/24 -
6-33763688-A-C MLN c.235-306T>G - IntronicSNV - 3/4
12-28371672-A-G CCDC91 c.-15+28098A>G - intron_variant - 1/12
1-2005740-T-C PRKCZ c.334+14710T>C - IntronicSNV - 4/17
12-123471094-G-A PITPNM2 c.3615C>T p.His1205His Synonymous 24/25 -
17-40818699-A-G TUBG2 c.1237A>G p.Met413Val Missense 11/11 -
2-102991181-C-T IL18R1 c.469-1186C>T - IntronicSNV - 4/10
2-102991181-C-G IL18R1 c.469-1186C>G - IntronicSNV - 4/10
12-54418920-G-A HOXC4 c.-124+7722G>A - intron_variant - 1/3
3-51071713-T-C DOCK3 c.316-30166T>C - IntronicSNV - 5/52
15-78754102-A-G IREB2 c.107-1162A>G - IntronicSNV - 2/21
1-227173477-G-C COQ8A c.1659+436G>C - IntronicSNV - 14/14
16-89589125-G-A SPG7 c.377-1289G>A - IntronicSNV - 3/16
3-49656789-G-A BSN c.225-5619G>A - IntronicSNV - 1/11
1-47825586-C-G CMPK1 c.172-8555C>G - IntronicSNV - 1/5
6-47552817-C-A CD2AP c.1108+3016C>A - IntronicSNV - 11/17
16-84211969-A-T TAF1C c.*578T>A - 3-UTRSNV 15/15 -
16-84211969-A-C TAF1C c.*578T>G - 3-UTRSNV 15/15 -
1-230294715-C-A GALNT2 c.127-19249C>A - IntronicSNV - 1/15
11-122851155-G-A BSX c.262+963C>T - IntronicSNV - 1/2
19-43979439-T-C PHLDB3 c.*123A>G - 3-UTRSNV 16/16 -
16-68289059-C-T PLA2G15 c.403+119C>T - IntronicSNV - 3/5
15-100544429-T-A ADAMTS17 c.2592-6635A>T - IntronicSNV - 18/21
15-100544429-T-C ADAMTS17 c.2592-6635A>G - IntronicSNV - 18/21
5-74898866-C-G POLK c.*5023C>G - IntergenicSNV 15/15 -
19-50059982-C-G NOSIP c.549G>C p.Val183Val Synonymous 7/9 -
6-35004819-C-T ANKS1A c.2011-17057C>T - IntronicSNV - 11/23
16-746611-G-T FBXL16 c.633+162C>A - IntronicSNV - 2/5
6-33280505-C-A TAPBP c.469+489G>T - IntronicSNV - 3/7
8-27220310-G-A PTK2B c.1-34792G>A - IntronicSNV - 2/31
9-136909261-C-G BRD3 c.1215+1154G>C - IntronicSNV - 7/11
9-136909261-C-A BRD3 c.1215+1154G>T - IntronicSNV - 7/11
3-50144951-T-C RBM5 c.990T>C p.Ala330Ala Synonymous 12/25 -
7-2795882-T-G GNA12 c.526-22747A>C - IntronicSNV - 2/3
1-109817245-C-T CELSR2 c.*574C>T - 3-UTRSNV 34/34 -
1-109817245-C-G CELSR2 c.*574C>G - 3-UTRSNV 34/34 -
5-74787620-G-A COL4A3BP c.231+14187C>T - IntronicSNV - 2/17
2-219610322-G-A TTLL4 c.1787-92G>A - IntronicSNV - 6/19
11-68177510-C-T LRP5 c.2220C>T p.Asn740Asn Synonymous 10/23 -
19-19562349-G-A GATAD2A c.1-13806G>A - IntronicSNV - 1/11
22-39855883-C-T MGAT3 c.-2+2321C>T - intron_variant - 1/1
12-66347870-A-C HMGA2 c.282+2675A>C - IntronicSNV - 4/4
3-49656789-G-T BSN c.225-5619G>T - IntronicSNV - 1/11
7-2802173-T-C GNA12 c.526-29038A>G - IntronicSNV - 2/3
7-73017005-A-G MLXIPL c.902-2980T>C - IntronicSNV - 7/16
8-57214729-C-A SDR16C5 c.837-597G>T - IntronicSNV - 6/6
16-28490517-T-C CLN3 c.1057-1319A>G - IntronicSNV - 13/14
14-103959289-G-T MARK3 c.1844+918G>T - IntronicSNV - 15/17
9-98226307-C-T PTCH1 c.2561-2027G>A - IntronicSNV - 15/23
2-25371477-G-A EFR3B c.2143-1086G>A - IntronicSNV - 19/22
16-778024-T-C HAGHL c.165T>C p.His55His Synonymous 2/8 -
10-104897901-T-G NT5C2 c.175+1262A>C - IntronicSNV - 4/18
14-104184737-G-A ZFYVE21 c.138+2421G>A - IntronicSNV - 1/6
16-769247-G-A METRN c.*1860G>A - IntergenicSNV 4/4 -
9-88881410-A-G ISCA1 c.242-304T>C - IntronicSNV - 3/3
9-88881410-A-T ISCA1 c.242-304T>A - IntronicSNV - 3/3
9-139995065-C-A MAN1B1 c.917-392C>A - IntronicSNV - 6/12
19-10765819-C-T ILF3 c.-91+656C>T - intron_variant - 1/17
19-1055718-C-G ABCA7 c.4206-188C>G - IntronicSNV - 30/46
9-136909261-C-T BRD3 c.1215+1154G>A - IntronicSNV - 7/11
6-33281843-A-T TAPBP c.1-25T>A - 5-UTRSNV 1/8 -
16-67418957-A-G LRRC36 c.2230A>G p.Ser744Gly Missense 14/14 -
20-33986271-T-C UQCC1 c.25-4272A>G - IntronicSNV - 1/9
19-8489069-T-A MARCH2 c.176+2169T>A - IntronicSNV - 3/5
2-219293326-C-G VIL1 c.567+266C>G - IntronicSNV - 6/19
17-30272879-G-T SUZ12 c.387-1757G>T - IntronicSNV - 3/15
1-46078884-C-T NASP c.1470C>T p.Thr490Thr Synonymous 7/15 -
8-145009610-A-G PLEC c.684-129T>C - IntronicSNV - 7/32
16-53536345-C-T AKTIP c.-71+714G>A - intron_variant - 1/9
11-61549025-G-A MYRF c.2660-20G>A - IntronicSNV - 20/25
17-30199537-T-G UTP6 c.1496+860A>C - IntronicSNV - 16/18
17-30199537-T-C UTP6 c.1496+860A>G - IntronicSNV - 16/18
9-95180558-G-T CENPP c.564+38417G>T - IntronicSNV - 5/7
9-86617265-A-G RMI1 c.1364A>G p.Asn455Ser Missense 3/3 -
14-101010730-T-C BEGAIN c.244-428A>G - IntronicSNV - 4/6
16-67708897-A-G GFOD2 c.*161T>C - 3-UTRSNV 3/3 -
19-19499598-A-G GATAD2A c.-7+2651A>G - intron_variant - 1/11
1-17276627-C-T CROCC c.2837-821C>T - IntronicSNV - 19/36
15-79082431-A-G ADAMTS7 c.1029-251T>C - IntronicSNV - 6/23
5-131594628-G-C PDLIM4 c.93+1108G>C - IntronicSNV - 1/6
6-33704194-T-C IP6K3 c.1-941A>G - IntronicSNV - 1/5
18-46645617-C-T DYM c.1564-321G>A - IntronicSNV - 14/16
17-30272879-G-A SUZ12 c.387-1757G>A - IntronicSNV - 3/15
12-123686127-A-T MPHOSPH9 c.1937+584T>A - IntronicSNV - 11/23
12-123686127-A-C MPHOSPH9 c.1937+584T>G - IntronicSNV - 11/23
16-3167795-A-C ZNF205 c.485-1111A>C - IntronicSNV - 5/6
3-134205227-C-T CEP63 c.-269C>T - 5_prime_UTR_variant 1/16 -
3-150175231-T-A TSC22D2 c.2082+317T>A - IntronicSNV - 3/3
3-150175231-T-C TSC22D2 c.2082+317T>C - IntronicSNV - 3/3
20-25293570-G-A ABHD12 c.619+1991C>T - IntronicSNV - 6/12
16-68258981-G-A NFATC3 c.*4-1272G>A - intron_variant - 10/10
9-86617265-A-T RMI1 c.1364A>T p.Asn455Ile Missense 3/3 -
2-24342505-T-C PFN4 c.303A>G p.Val101Val Synonymous 4/5 -
12-11859731-A-G ETV6 c.34-45653A>G - IntronicSNV - 1/7
11-118128455-G-A MPZL2 c.585-427C>T - IntronicSNV - 4/5
6-12900977-C-T PHACTR1 c.250+150955C>T - IntronicSNV - 4/14
20-44585420-A-G ZNF335 c.2442+805T>C - IntronicSNV - 17/27
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
16-746884-A-C FBXL16 c.522T>G p.Val174Val Synonymous 2/6 -
9-98266855-T-A PTCH1 c.394+1834A>T - IntronicSNV - 2/23
6-33661091-G-A ITPR3 c.7625-231G>A - IntronicSNV - 55/57
16-778820-G-A HAGHL c.525G>A p.Thr175Thr Synonymous 6/8 -
22-41627527-A-G CHADL c.2263-1793T>C - IntronicSNV - 5/5
16-778820-G-T HAGHL c.525G>T p.Thr175Thr Synonymous 6/8 -
3-49832261-A-G CDHR4 c.1185+119T>C - IntronicSNV - 9/18
20-33254986-A-C PIGU c.130+9774T>G - IntronicSNV - 1/11
12-122231573-C-G RHOF c.1-34G>C - 5-UTRSNV 1/5 -
11-47468569-A-G RAPSN c.531+795T>C - IntronicSNV - 2/7
6-17600619-A-G FAM8A1 c.1-22A>G - 5-UTRSNV 1/5 -
20-60969451-C-T CABLES2 c.606-130G>A - IntronicSNV - 4/9
16-28489346-T-C CLN3 c.1057-148A>G - IntronicSNV - 13/14
17-63554591-G-A AXIN2 c.148C>T p.Pro50Ser Missense 2/11 -
2-219097738-G-A ARPC2 c.223-1337G>A - IntronicSNV - 3/9
2-100908634-A-T LONRF2 c.1758-1752T>A - IntronicSNV - 9/11
8-145008931-G-C PLEC c.1027-33C>G - IntronicSNV - 10/32
8-145008931-G-A PLEC c.1027-33C>T - IntronicSNV - 10/32
12-110026024-G-T MVK c.677+1420G>T - IntronicSNV - 7/10
18-46770186-T-G DYM c.1460+13194A>C - IntronicSNV - 13/16
16-747454-T-C FBXL16 c.1-49A>G - IntronicSNV - 1/5
5-173373488-A-C CPEB4 c.1456+1345A>C - IntronicSNV - 5/9
1-40035686-C-T PABPC4 c.504-12G>A - IntronicSNV - 3/15
6-26370707-T-C BTN3A2 c.591T>C p.Asp197Asp Synonymous 3/9 -
8-145000321-C-T PLEC c.4126-269G>A - IntronicSNV - 31/32
1-154415396-C-T IL6R c.950-5205C>T - IntronicSNV - 6/9
9-98214367-A-G PTCH1 c.3449+1393T>C - IntronicSNV - 20/23
6-109689431-A-G CD164 c.*623T>C - 3-UTRSNV 6/6 -
6-109689431-A-T CD164 c.*623T>A - 3-UTRSNV 6/6 -
1-2523723-C-T MMEL1 c.2068-257G>A - IntronicSNV - 21/23
2-100908634-A-C LONRF2 c.1758-1752T>G - IntronicSNV - 9/11
11-118529127-G-A TREH c.1623C>T p.Gly541Gly Synonymous 15/16 -
1-63133930-G-A DOCK7 c.39-5129C>T - IntronicSNV - 1/48
6-35968448-A-T SLC26A8 c.329-563T>A - IntronicSNV - 3/19
1-40035686-C-A PABPC4 c.504-12G>T - IntronicSNV - 3/15
1-154415396-C-A IL6R c.950-5205C>A - IntronicSNV - 6/9
16-9212987-T-C C16orf72 c.*2218T>C - 3-UTRSNV 4/4 -
19-19545428-A-G GATAD2A c.1-30727A>G - IntronicSNV - 1/11
2-27725572-C-A GCKR c.645-809C>A - IntronicSNV - 8/18
6-35256719-T-C ZNF76 c.432+1097T>C - IntronicSNV - 5/13
6-35256719-T-G ZNF76 c.432+1097T>G - IntronicSNV - 5/13
16-28618071-C-G SULT1A1 c.594+11G>C - IntronicSNV - 6/7
20-44640959-G-A MMP9 c.1174+7G>A - IntronicSNV - 7/12
1-19775113-T-C CAPZB c.4-28869A>G - IntronicSNV - 1/9
16-89630630-C-T RPL13 c.*1180C>T - 3-UTRSNV 6/6 -
8-10684755-C-G PINX1 c.302-1001G>C - IntronicSNV - 4/6
22-50439430-A-G IL17REL c.109+81T>C - IntronicSNV - 4/14
2-203165534-C-T NOP58 c.1402+444C>T - IntronicSNV - 13/14
12-120565188-G-A GCN1 c.*465C>T - 3-UTRSNV 58/58 -
2-203673073-G-A ICA1L c.910+3396C>T - IntronicSNV - 10/13
13-114875618-G-C RASA3 c.55+22292C>G - IntronicSNV - 1/23
1-114423653-C-G BCL2L15 c.*92G>C - 3-UTRSNV 4/4 -
10-104140602-G-T GBF1 c.5161+159G>T - IntronicSNV - 38/39
1-62960250-T-C DOCK7 c.4932-112A>G - IntronicSNV - 38/48
1-47825586-C-A CMPK1 c.172-8555C>A - IntronicSNV - 1/5
10-126846214-A-G CTBP2 c.-206+3182T>C - intron_variant - 1/10
18-46572136-G-A DYM c.1861-1562C>T - IntronicSNV - 16/16
9-139286844-G-T SNAPC4 c.810+130C>A - IntronicSNV - 8/22
10-126846214-A-C CTBP2 c.-206+3182T>G - intron_variant - 1/10
10-126330565-C-T FAM53B c.907-18392G>A - IntronicSNV - 4/4
12-121288685-A-T SPPL3 c.24-39996T>A - IntronicSNV - 1/10
20-62309554-C-T RTEL1 c.1030+18C>T - IntronicSNV - 11/34
20-34537160-G-T PHF20 c.*1611G>T - 3-UTRSNV 18/18 -
11-47269159-T-C ACP2 c.297+33A>G - IntronicSNV - 3/10
22-39747780-G-A SYNGR1 c.99+1666G>A - IntronicSNV - 1/3
19-19632970-T-C NDUFA13 c.95-4021T>C - IntronicSNV - 1/4
3-53026714-A-C SFMBT1 c.1-23570T>G - IntronicSNV - 1/20
5-131600187-A-G PDLIM4 c.245+1734A>G - IntronicSNV - 2/6
1-155033308-G-A ADAM15 c.2277G>A p.Lys759Lys Synonymous 19/21 -
9-136146597-C-T ABO c.28+3981G>A - IntronicSNV - 1/7
9-123683106-C-T TRAF1 c.228+2877G>A - IntronicSNV - 3/7
17-27907313-A-G GIT1 c.761+1043T>C - IntronicSNV - 7/19
17-47092076-C-T IGF2BP1 c.237-10904C>T - IntronicSNV - 2/14
13-115029162-G-A CDC16 c.1512+673G>A - IntronicSNV - 16/18
13-115029162-G-T CDC16 c.1512+673G>T - IntronicSNV - 16/18
16-88780175-G-A CTU2 c.994G>A p.Val332Ile Missense 9/14 -
16-88780175-G-T CTU2 c.994G>T p.Val332Phe Missense 9/14 -
16-67219107-G-C EXOC3L1 c.1681C>G p.Gln561Glu Missense 11/14 -
3-52573844-G-A SMIM4 c.152-596G>A - IntronicSNV - 1/1
17-47037024-A-T GIP c.453-946T>A - IntronicSNV - 5/5
3-49697459-G-A BSN c.8641-460G>A - IntronicSNV - 5/11
11-47714610-G-A AGBL2 c.695-802C>T - IntronicSNV - 8/18
19-19366643-G-A HAPLN4 c.*1983C>T - 3-UTRSNV 5/5 -
2-1746140-T-C PXDN c.200+1888A>G - IntronicSNV - 1/22
15-79231478-T-C CTSH c.123+4A>G - IntronicSNV - 2/11
11-48011180-A-G PTPRJ c.96+8620A>G - IntronicSNV - 1/8
6-167549326-G-T CCR6 c.1-297G>T - IntronicSNV 1/3 -
6-44863106-A-T SUPT3H c.945+37284T>A - IntronicSNV - 12/12
20-34537160-G-A PHF20 c.*1611G>A - 3-UTRSNV 18/18 -
11-47565103-G-T CELF1 c.-11+9441C>A - intron_variant - 1/13
22-39747780-G-T SYNGR1 c.99+1666G>T - IntronicSNV - 1/3
9-139371786-A-C SEC16A c.282T>G p.Val94Val Synonymous 3/32 -
11-61597972-A-G FADS2 c.207+1903A>G - IntronicSNV - 1/11
16-28853996-A-C TUFM c.*300T>G - 3-UTRSNV 10/10 -
9-136137065-A-G ABO c.99-288T>C - IntronicSNV - 2/7
8-144991176-T-C PLEC c.12894A>G p.Ser4298Ser Synonymous 33/33 -
4-122791601-G-C BBS7 c.1-133C>G - 5-UTRSNV 1/18 -
1-221055463-G-A HLX c.773-43G>A - IntronicSNV - 2/3
9-136137106-G-A ABO c.99-329C>T - IntronicSNV - 2/7
2-191793941-G-A GLS c.1426-1222G>A - IntronicSNV - 12/14
9-136146597-C-A ABO c.28+3981G>T - IntronicSNV - 1/7
1-2044054-A-C PRKCZ c.335-22647A>C - IntronicSNV - 4/17
12-123648032-C-T MPHOSPH9 c.2909-351G>A - IntronicSNV - 19/23
1-2044054-A-T PRKCZ c.335-22647A>T - IntronicSNV - 4/17
3-52558133-T-A STAB1 c.7560T>A p.Asp2520Glu Missense 68/69 -
17-37631924-G-T CDK12 c.1931+3908G>T - IntronicSNV - 2/13
19-17345427-G-C NR2F6 c.940+881C>G - IntronicSNV - 3/3
12-124454235-T-C CCDC92 c.-60+2841A>G - intron_variant - 1/4
3-50078221-T-C RBM6 c.1558-7457T>C - IntronicSNV - 6/20
17-37631924-G-C CDK12 c.1931+3908G>C - IntronicSNV - 2/13
1-184001892-C-T COLGALT2 c.263+4337G>A - IntronicSNV - 1/11
19-38896075-C-T FAM98C c.633+14C>T - IntronicSNV - 5/7
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
11-9004002-C-T NRIP3 c.*1090G>A - 3-UTRSNV 7/7 -
1-172307678-T-C DNM3 c.1893+15198T>C - IntronicSNV - 17/20
2-44057570-A-C ABCG5 c.501+1338T>G - IntronicSNV - 4/12
3-38038982-T-C VILL c.570T>C p.Ala190Ala Synonymous 6/19 -
7-6474073-C-T DAGLB c.678+320G>A - IntronicSNV - 4/14
17-38029120-C-G ZPBP2 c.560-177C>G - IntronicSNV - 4/6
19-19370917-C-T HAPLN4 c.484+705G>A - IntronicSNV - 3/4
17-47039254-T-A GIP c.258-73A>T - IntronicSNV - 3/5
2-44057570-A-G ABCG5 c.501+1338T>C - IntronicSNV - 4/12
16-69373414-T-C COG8 c.42A>G p.Thr14Thr Synonymous 1/6 -
16-68225515-G-A NFATC3 c.2943G>A p.Thr981Thr Synonymous 9/11 -
11-57321322-T-C UBE2L6 c.310+588A>G - IntronicSNV - 3/3
19-44283843-G-C KCNN4 c.159+1012C>G - IntronicSNV - 1/8
1-36628033-G-A MAP7D1 c.46+5969G>A - IntronicSNV - 1/16
9-98245026-A-G PTCH1 c.585-541T>C - IntronicSNV - 3/23
17-37639327-G-C CDK12 c.1932-7483G>C - IntronicSNV - 2/13
3-151035399-C-T MED12L c.2146-32448C>T - IntronicSNV - 14/42
2-100620017-C-A AFF3 c.873+3077G>T - IntronicSNV - 6/23
2-100729293-T-C AFF3 c.-144-7248A>G - intron_variant - 1/23
17-61908556-C-T PSMC5 c.840C>T p.Leu280Leu Synonymous 8/12 -
17-61908556-C-G PSMC5 c.840C>G p.Leu280Leu Synonymous 8/12 -
11-65739549-T-G SART1 c.1572+4257T>G - IntronicSNV - 12/19
10-5019320-C-A AKR1C1 c.930-572C>A - IntronicSNV - 8/8
17-7380305-G-T ZBTB4 c.-81+7018C>A - intron_variant - 1/3
10-5019320-C-T AKR1C1 c.930-572C>T - IntronicSNV - 8/8
17-47039254-T-C GIP c.258-73A>G - IntronicSNV - 3/5
11-66690454-C-T PC c.-1+29447G>A - intron_variant - 3/22
12-58165085-C-T METTL1 c.111-45G>A - IntronicSNV - 1/5
16-31370090-T-G ITGAX c.431-931T>G - IntronicSNV - 5/29
3-141133960-G-A ZBTB38 c.-1+11087G>A - intron_variant - 7/7
3-49951316-T-C MON1A c.279-524A>G - IntronicSNV - 1/5
12-122628219-T-C MLXIP c.*1860T>C - 3_prime_UTR_variant 17/17 -
17-27955761-G-A SSH2 c.*2098C>T - 3-UTRSNV 15/15 -
2-203693277-G-A ICA1L c.162+294C>T - IntronicSNV - 3/13
16-88751528-T-G SNAI3 c.76+1211A>C - IntronicSNV - 1/2
17-43893716-C-T CRHR1 c.122-113C>T - IntronicSNV - 2/13
11-66362997-A-G CCS c.112+1812A>G - IntronicSNV - 2/7
15-41347658-G-A INO80 c.2071-96C>T - IntronicSNV - 17/35
17-46291414-G-A SKAP1 c.281-24552C>T - IntronicSNV - 4/12
12-124476873-C-T ZNF664 c.-661+4188C>T - intron_variant - 3/4
19-45451620-T-A APOC2 c.1-116T>A - IntronicSNV - 1/3
17-40818699-A-T TUBG2 c.1237A>T p.Met413Leu Missense 11/11 -
1-2005740-T-G PRKCZ c.334+14710T>G - IntronicSNV - 4/17
17-80161081-A-G CCDC57 c.1-1261T>C - IntronicSNV - 1/16
3-52567617-A-G NT5DC2 c.121+932T>C - IntronicSNV - 1/13
17-38031164-T-C ZPBP2 c.643-343T>C - IntronicSNV - 5/6
20-34025756-A-G GDF5 c.1-48T>C - 5-UTRSNV 1/2 -
15-75770521-G-A PTPN9 c.1129+1668C>T - IntronicSNV - 9/12
16-642610-T-C RAB40C c.142+2177T>C - IntronicSNV - 1/5
17-7379650-G-A ZBTB4 c.-81+7673C>T - intron_variant - 1/3
1-109706880-A-G KIAA1324 c.275-241A>G - IntronicSNV - 2/21
8-143384727-C-G TSNARE1 c.1132-2722G>C - IntronicSNV - 9/13
1-109706880-A-T KIAA1324 c.275-241A>T - IntronicSNV - 2/21
15-74494946-G-T STRA6 c.1-338C>A - IntronicSNV - 1/18
15-74494946-G-A STRA6 c.1-338C>T - IntronicSNV - 1/18
12-121476423-A-G OASL c.198+154T>C - IntronicSNV - 1/5
1-2060732-C-T PRKCZ c.335-5969C>T - IntronicSNV - 4/17
1-2060732-C-G PRKCZ c.335-5969C>G - IntronicSNV - 4/17
1-47829507-C-A CMPK1 c.172-4634C>A - IntronicSNV - 1/5
11-119003322-C-A HINFP c.754+39C>A - IntronicSNV - 7/10
11-119003322-C-G HINFP c.754+39C>G - IntronicSNV - 7/10
2-233417312-T-G EIF4E2 c.20+1858T>G - IntronicSNV - 1/6
20-34249061-C-T RBM12 c.-107-2125G>A - intron_variant - 1/2
16-2484783-A-C CCNF c.279-1024A>C - IntronicSNV - 3/16
12-49318546-G-C FKBP11 c.196-115C>G - IntronicSNV - 2/5
3-141133960-G-C ZBTB38 c.-1+11087G>C - intron_variant - 7/7
20-33442138-A-T GGT7 c.1319+196T>A - IntronicSNV - 10/14
7-128605594-A-C TNPO3 c.2711+1740T>G - IntronicSNV - 21/22
11-61623140-C-T FADS2 c.745-1343C>T - IntronicSNV - 5/11
11-61623140-C-A FADS2 c.745-1343C>A - IntronicSNV - 5/11
12-123641200-C-T MPHOSPH9 c.*154G>A - 3-UTRSNV 24/24 -
8-145000602-T-C PLEC c.4125+350A>G - IntronicSNV - 31/32
5-74934009-A-T ANKDD1B c.798+2302A>T - IntronicSNV - 7/13
16-337017-G-A PDIA2 c.1534-52G>A - IntronicSNV - 10/10
5-131602166-T-C PDLIM4 c.255T>C p.Gly85Gly Synonymous 3/7 -
7-45093279-C-T CCM2 c.205-10238C>T - IntronicSNV - 2/9
17-17749056-A-G TOM1L2 c.*1893T>C - 3-UTRSNV 14/14 -
12-54418920-G-C HOXC4 c.-124+7722G>C - intron_variant - 1/3
17-38029120-C-T ZPBP2 c.560-177C>T - IntronicSNV - 4/6
3-51071713-T-G DOCK3 c.316-30166T>G - IntronicSNV - 5/52
7-158608223-T-A ESYT2 c.330+13557A>T - intron_variant - 1/21
8-32432753-G-T NRG1 c.38-20593G>T - IntronicSNV - 1/11
8-144996029-A-G PLEC c.8041T>C p.Ser2681Pro Missense 33/33 -
9-139121740-A-T QSOX2 c.329-3020T>A - IntronicSNV - 1/11
1-2534087-C-T MMEL1 c.1041+1236G>A - IntronicSNV - 11/23
15-86050890-A-T AKAP13 c.34-13769A>T - IntronicSNV - 2/36
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
17-61763534-A-C MAP3K3 c.710+584A>C - IntronicSNV - 8/15
22-39858196-A-G MGAT3 c.-2+4634A>G - intron_variant - 1/1
3-57582378-A-T ARF4 c.67+423T>A - IntronicSNV - 1/5
16-633353-T-C PIGQ c.*318T>C - 3-UTRSNV 11/11 -
16-68092850-G-C DUS2 c.370-2119G>C - IntronicSNV - 7/16
3-57582378-A-G ARF4 c.67+423T>C - IntronicSNV - 1/5
2-219151926-T-C TMBIM1 c.1-5062A>G - IntronicSNV - 1/11
9-139270876-G-A SNAPC4 c.4342C>T p.Pro1448Ser Missense 22/23 -
12-123648032-C-G MPHOSPH9 c.2909-351G>C - IntronicSNV - 19/23
11-118981025-A-G C2CD2L c.450+116A>G - IntronicSNV - 2/13
8-145008931-G-T PLEC c.1027-33C>A - IntronicSNV - 10/32
1-109817192-A-G CELSR2 c.*521A>G - 3-UTRSNV 34/34 -
6-109946561-G-A AK9 c.1255-6122C>T - IntronicSNV - 12/40
20-44644965-G-A MMP9 c.2082G>A p.Val694Val Synonymous 13/13 -
7-148000654-G-C CNTNAP2 c.3475+36436G>C - IntronicSNV - 21/23
12-53793209-G-A SP1 c.1532-7160G>A - IntronicSNV - 3/5
12-53793209-G-C SP1 c.1532-7160G>C - IntronicSNV - 3/5
7-107582323-T-C LAMB1 c.3392-1520A>G - IntronicSNV - 24/33
7-1886865-C-G MAD1L1 c.1999-31001G>C - IntronicSNV - 18/18
20-33145868-G-A MAP1LC3A c.53-1144G>A - IntronicSNV - 2/4
7-72885810-G-A BAZ1B c.2594-997C>T - IntronicSNV - 7/19
16-67469733-C-A HSD11B2 c.468C>A p.Thr156Thr Synonymous 2/5 -
7-72984780-T-C TBL2 c.*57A>G - 3-UTRSNV 7/7 -
5-96323503-A-G LNPEP c.1131+1129A>G - IntronicSNV - 4/17
3-49705512-T-A BSN c.*594T>A - 3_prime_UTR_variant 12/12 -
16-28898793-T-C ATP2A1 c.678T>C p.Thr226Thr Synonymous 8/23 -
16-1583634-T-C IFT140 c.2400-6837A>G - IntronicSNV - 19/30
16-720986-G-A RHOT2 c.734G>A p.Arg245Gln Missense 10/19 -
16-720986-G-C RHOT2 c.734G>C p.Arg245Pro Missense 10/19 -
16-28582142-G-T SGF29 c.1-10249G>T - IntronicSNV - 1/9
12-123200768-T-C HCAR3 c.517A>G p.Thr173Ala Missense 1/1 -
12-123200768-T-G HCAR3 c.517A>C p.Thr173Pro Missense 1/1 -
11-126072294-C-T RPUSD4 c.*1019G>A - 3-UTRSNV 7/7 -
11-14340504-T-C RRAS2 c.109-23103A>G - IntronicSNV - 1/5
15-63423739-A-G LACTB c.1118+1890A>G - IntronicSNV - 5/5
14-24839165-C-T NFATC4 c.561C>T p.Asp187Asp Synonymous 2/10 -
15-63423739-A-T LACTB c.1118+1890A>T - IntronicSNV - 5/5
1-230294715-C-T GALNT2 c.127-19249C>T - IntronicSNV - 1/15
2-219547027-T-A STK36 c.1236+1602T>A - IntronicSNV - 10/26
11-47336442-G-A MADD c.3961-329G>A - IntronicSNV - 26/32
2-219547027-T-G STK36 c.1236+1602T>G - IntronicSNV - 10/26
16-1512731-A-G CLCN7 c.214-1056T>C - IntronicSNV - 2/24
8-145031968-C-T PLEC c.193+17377G>A - IntronicSNV - 2/32
1-89430420-A-G KYAT3 c.453+92T>C - IntronicSNV - 5/13
16-72057282-A-G DHODH c.973+65A>G - IntronicSNV - 7/8
6-126149127-C-G NCOA7 c.50+12577C>G - IntronicSNV - 3/16
6-126149127-C-T NCOA7 c.50+12577C>T - IntronicSNV - 3/16
16-67446553-G-A ZDHHC1 c.-39+3521C>T - intron_variant - 1/10
14-24799578-C-G ADCY4 c.931-77G>C - IntronicSNV - 6/24
18-12999376-T-C CEP192 c.1-48T>C - IntronicSNV 1/45 -
17-27909352-C-T GIT1 c.406-190G>A - IntronicSNV - 4/19
6-45121699-C-T SUPT3H c.135-47956G>A - IntronicSNV - 4/12
13-115007089-A-G CDC16 c.382-507A>G - IntronicSNV - 5/18
12-123723735-G-C C12orf65 c.-29+5657G>C - intron_variant - 1/2
8-19807341-A-C LPL c.249+1490A>C - IntronicSNV - 2/9
2-25350321-G-T EFR3B c.486-731G>T - IntronicSNV - 5/22
9-139130364-G-A QSOX2 c.328+6958C>T - IntronicSNV - 1/11
3-11654007-A-C VGLL4 c.65-10511T>G - IntronicSNV - 2/5
3-11654007-A-T VGLL4 c.65-10511T>A - IntronicSNV - 2/5
3-11654007-A-G VGLL4 c.65-10511T>C - IntronicSNV - 2/5
3-52960261-C-A SFMBT1 c.1049-132G>T - IntronicSNV - 9/20
2-100744683-G-T AFF3 c.-145+14263C>A - intron_variant - 1/23
9-98245974-A-G PTCH1 c.585-1489T>C - IntronicSNV - 3/23
1-2163568-C-A SKI c.969+2394C>A - IntronicSNV - 1/6
3-184026703-C-T PSMD2 c.*25C>T - 3-UTRSNV 21/21 -
11-47372377-G-A MYBPC3 c.293-211C>T - IntronicSNV - 2/34
14-24736961-T-C RABGGTA c.1258A>G p.Thr420Ala Missense 14/17 -
16-715060-T-C WDR90 c.4312-619T>C - IntronicSNV - 34/40
14-65389403-A-G CHURC1-FNTB c.1-1436A>G - IntronicSNV - 1/12
4-57838583-G-T NOA1 c.1515+731C>A - IntronicSNV - 3/6
6-137095679-G-C MAP3K5 c.448+17169C>G - IntronicSNV - 1/29
6-137095679-G-A MAP3K5 c.448+17169C>T - IntronicSNV - 1/29
1-2163568-C-T SKI c.969+2394C>T - IntronicSNV - 1/6
16-31085470-T-C ZNF668 c.-513A>G - 5_prime_UTR_variant 1/3 -
3-36943118-T-C TRANK1 c.150+1522A>G - IntronicSNV - 2/22
1-2038662-G-A PRKCZ c.335-28039G>A - IntronicSNV - 4/17
16-56998572-G-C CETP c.233+1536G>C - IntronicSNV - 2/15
16-31085470-T-A ZNF668 c.-513A>T - 5_prime_UTR_variant 1/3 -
16-28575917-C-T SGF29 c.-16+10499C>T - intron_variant - 1/9
20-34132256-C-T ERGIC3 c.367+1566C>T - IntronicSNV - 4/12
17-46488447-T-C SKAP1 c.47-14300A>G - IntronicSNV - 1/12
6-130374461-T-G L3MBTL3 c.582+325T>G - IntronicSNV - 7/22
6-130374461-T-A L3MBTL3 c.582+325T>A - IntronicSNV - 7/22
17-40501579-A-T STAT3 c.1-1045T>A - IntronicSNV - 1/23
9-107665978-C-G ABCA1 c.1-18G>C - 5-UTRSNV 2/50 -
9-107665978-C-T ABCA1 c.1-18G>A - 5-UTRSNV 2/50 -
17-46620288-G-A HOXB2 c.*142C>T - 3-UTRSNV 2/2 -
1-172376809-T-C DNM3 c.2523-103T>C - IntronicSNV - 20/20
1-155260383-G-T PKLR c.1705C>A p.Arg569Arg Synonymous 11/11 -
17-46171099-T-G CBX1 c.-38+7018A>C - intron_variant - 1/4
1-155260383-G-A PKLR c.1705C>T p.Arg569Trp Missense 11/11 -
2-234190740-T-C ATG16L1 c.1075-588T>C - IntronicSNV - 10/16
17-46171099-T-A CBX1 c.-38+7018A>T - intron_variant - 1/4
17-61646000-G-A DCAF7 c.139-9831G>A - IntronicSNV - 1/7
16-56864398-C-T NUP93 c.928-42C>T - IntronicSNV - 9/21
16-68100461-C-G DUS2 c.484-8C>G - IntronicSNV - 9/16
16-68100461-C-T DUS2 c.484-8C>T - IntronicSNV - 9/16
17-19224397-G-C EPN2 c.1148-7627G>C - IntronicSNV - 7/10
20-33488079-T-C ACSS2 c.375-12820T>C - IntronicSNV - 2/17
12-56435929-C-T RPS26 c.1-22C>T - 5-UTRSNV 1/4 -
7-2795882-T-A GNA12 c.526-22747A>T - IntronicSNV - 2/3
12-56435929-C-G RPS26 c.1-22C>G - 5-UTRSNV 1/4 -
12-56435929-C-A RPS26 c.1-22C>A - 5-UTRSNV 1/4 -
6-142710988-C-G ADGRG6 c.1139-407C>G - IntronicSNV - 5/24
2-60748945-T-C BCL11A c.385+24161A>G - IntronicSNV - 2/3
6-35046548-A-T ANKS1A c.2283+115A>T - IntronicSNV - 14/23
6-35046548-A-G ANKS1A c.2283+115A>G - IntronicSNV - 14/23
5-178507270-A-G ZNF354C c.*172A>G - 3-UTRSNV 5/5 -
10-35450147-C-T CREM c.120+12728C>T - IntronicSNV - 2/3
2-27663215-T-G NRBP1 c.1037-55T>G - IntronicSNV - 11/17
2-27663215-T-A NRBP1 c.1037-55T>A - IntronicSNV - 11/17
9-139105229-T-C QSOX2 c.1360+1771A>G - IntronicSNV - 10/11
5-133947011-T-C SAR1B c.244+1370A>G - IntronicSNV - 4/6
20-32405217-A-G CHMP4B c.190+5753A>G - IntronicSNV - 1/4
20-33984976-T-G UQCC1 c.25-2977A>C - IntronicSNV - 1/9
20-33984976-T-C UQCC1 c.25-2977A>G - IntronicSNV - 1/9
20-33984976-T-A UQCC1 c.25-2977A>T - IntronicSNV - 1/9
17-43227214-T-C HEXIM1 c.657T>C p.Asp219Asp Synonymous 1/1 -
20-33672123-A-C TRPC4AP c.169-6146T>G - IntronicSNV - 1/18
11-48013484-G-A PTPRJ c.96+10924G>A - IntronicSNV - 1/8
3-136153468-T-C STAG1 c.1547-967A>G - IntronicSNV - 15/33
3-136153468-T-G STAG1 c.1547-967A>C - IntronicSNV - 15/33
6-127443092-T-C RSPO3 c.97+2658T>C - IntronicSNV - 1/4
2-198907143-C-T PLCL1 c.241-41339C>T - IntronicSNV - 1/5
20-33672123-A-T TRPC4AP c.169-6146T>A - IntronicSNV - 1/18
1-47829507-C-T CMPK1 c.172-4634C>T - IntronicSNV - 1/5
12-57492996-G-A STAT6 c.1891+81C>T - IntronicSNV - 16/21
15-100519833-A-G ADAMTS17 c.2950-3406T>C - IntronicSNV - 20/21
6-35267548-G-A DEF6 c.96+1819G>A - IntronicSNV - 1/10
6-116373616-C-T FRK c.344+7515G>A - IntronicSNV - 1/7
15-75912889-A-T SNUPN c.158+346T>A - IntronicSNV - 2/8
2-127839781-C-A BIN1 c.85-5499G>T - IntronicSNV - 1/18
2-127839781-C-T BIN1 c.85-5499G>A - IntronicSNV - 1/18
11-9759918-G-A SWAP70 c.1188+51G>A - IntronicSNV - 8/11
17-30185022-A-G COPRS c.99+1098T>C - IntronicSNV - 1/3
1-8021973-G-C PARK7 c.-24+120G>C - intron_variant - 1/6
9-123370345-C-G MEGF9 c.1088-57G>C - IntronicSNV - 4/5
11-117070857-G-A TAGLN c.-13+312G>A - intron_variant - 1/4
15-77759896-C-T HMG20A c.450+247C>T - IntronicSNV - 5/10
6-47461913-C-T CD2AP c.5-9103C>T - IntronicSNV - 1/17
5-131710399-A-C SLC22A5 c.394-3671A>C - IntronicSNV - 1/9
1-26392535-C-T TRIM63 c.332+224G>A - IntronicSNV - 2/8
19-19440066-C-T MAU2 c.277-6461C>T - IntronicSNV - 1/18
4-1721654-A-G TMEM129 c.205+706T>C - IntronicSNV - 1/2
12-124815504-C-T NCOR2 c.6905-60G>A - IntronicSNV - 45/48
4-140725750-C-T MAML3 c.2080-73929G>A - IntronicSNV - 2/4
3-50223593-T-C SEMA3F c.1745+114T>C - IntronicSNV - 16/18
3-50223593-T-G SEMA3F c.1745+114T>G - IntronicSNV - 16/18
1-2075560-T-G PRKCZ c.421-89T>G - IntronicSNV - 5/17
12-124815504-C-A NCOR2 c.6905-60G>T - IntronicSNV - 45/48
1-89426260-T-C KYAT3 c.787+590A>G - IntronicSNV - 8/13
10-104573936-T-C WBP1L c.*848T>C - 3-UTRSNV 4/4 -
10-105075712-C-T PCGF6 c.685-1683G>A - IntronicSNV - 5/6
17-45406345-T-G EFCAB13 c.30+596T>G - IntronicSNV - 4/24
17-45406345-T-C EFCAB13 c.30+596T>C - IntronicSNV - 4/24
8-23309475-A-T ENTPD4 c.1-2062T>A - IntronicSNV - 1/12
16-67856240-A-G TSNAXIP1 c.225+1112A>G - IntronicSNV - 4/15
8-23309475-A-G ENTPD4 c.1-2062T>C - IntronicSNV - 1/12
9-136132350-T-C ABO c.371+446A>G - intron_variant - 7/7
16-67651879-G-A CTCF c.1086+1098G>A - IntronicSNV - 5/11
3-134205227-C-A CEP63 c.-269C>A - 5_prime_UTR_variant 1/16 -
17-37833328-A-T PGAP3 c.433-2396T>A - IntronicSNV - 3/7
7-2836848-T-G GNA12 c.310-2071A>C - IntronicSNV - 1/3
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
19-19449603-G-C MAU2 c.457-51G>C - IntronicSNV - 4/18
19-19449603-G-A MAU2 c.457-51G>A - IntronicSNV - 4/18
17-30197323-T-C UTP6 c.1497-2192A>G - IntronicSNV - 16/18
6-138664594-G-T ARFGEF3 c.*6971G>T - 3-UTRSNV 34/34 -
3-49687486-C-T BSN c.1519-559C>T - IntronicSNV - 3/11
16-68299771-G-A SLC7A6 c.-165-725G>A - intron_variant - 1/10
10-63811678-T-A ARID5B c.846+919T>A - IntronicSNV - 5/9
11-47269159-T-A ACP2 c.297+33A>T - IntronicSNV - 3/10
3-52529773-T-G STAB1 c.78+266T>G - IntronicSNV - 1/68
11-47527052-G-T CELF1 c.1-16486C>A - IntronicSNV - 1/13
17-43108899-G-C DCAKD c.317-1352C>G - IntronicSNV - 3/4
17-43108899-G-A DCAKD c.317-1352C>T - IntronicSNV - 3/4
3-47901803-C-A MAP4 c.3067-2801G>T - IntronicSNV - 15/18
16-28545785-A-G NUPR1 c.*3555T>C - IntergenicSNV 3/3 -
16-68243054-A-T NFATC3 c.3107-5178A>T - IntronicSNV - 9/10
17-36932200-C-G PIP4K2B c.807+1740G>C - IntronicSNV - 7/9
10-104464763-G-A ARL3 c.147+340C>T - IntronicSNV - 2/5
6-109726739-T-C PPIL6 c.689-2428A>G - IntronicSNV - 6/8
1-109949008-A-G PSMA5 c.648+3542T>C - IntronicSNV - 8/8
1-109949008-A-T PSMA5 c.648+3542T>A - IntronicSNV - 8/8
19-47579613-T-A ZC3H4 c.1441-3643A>T - IntronicSNV - 11/14
7-2883006-C-G GNA12 c.309+481G>C - IntronicSNV - 1/3
7-2883006-C-A GNA12 c.309+481G>T - IntronicSNV - 1/3
12-66347870-A-G HMGA2 c.282+2675A>G - IntronicSNV - 4/4
2-25347046-T-C EFR3B c.485+2383T>C - IntronicSNV - 5/22
9-123677827-C-G TRAF1 c.229-1249G>C - IntronicSNV - 3/7
12-122692820-T-C DIABLO c.*108A>G - 3-UTRSNV 7/7 -
9-123677827-C-T TRAF1 c.229-1249G>A - IntronicSNV - 3/7
12-122692820-T-A DIABLO c.*108A>T - 3-UTRSNV 7/7 -
8-144990528-A-G PLEC c.13542T>C p.Ala4514Ala Synonymous 33/33 -
14-23381444-C-A RBM23 c.1-842G>T - IntronicSNV - 1/13
15-85186577-C-T WDR73 c.*124G>A - 3-UTRSNV 8/8 -
2-232877509-G-A DIS3L2 c.1-2129G>A - IntronicSNV - 1/20
14-23790059-T-C BCL2L2-PABPN1 c.433-1331T>C - IntronicSNV - 3/8
2-232877509-G-T DIS3L2 c.1-2129G>T - IntronicSNV - 1/20
19-38456823-A-G SIPA1L3 c.-379+58825A>G - intron_variant - 1/21
1-23451892-T-C LUZP1 c.-291-15749A>G - intron_variant - 1/4
19-38456823-A-T SIPA1L3 c.-379+58825A>T - intron_variant - 1/21
2-219658170-A-T CYP27A1 c.255+11010A>T - IntronicSNV - 1/8
17-38031138-A-G ZPBP2 c.643-369A>G - IntronicSNV - 5/6
4-965720-A-G DGKQ c.272-860T>C - IntronicSNV - 1/22
7-32915204-C-A KBTBD2 c.171-435G>T - IntronicSNV - 2/3
8-79607893-A-C ZC2HC1A c.505-1749A>C - IntronicSNV - 5/8
15-85147910-G-C ZSCAN2 c.406+346G>C - IntronicSNV - 2/2
9-95153729-C-A CENPP c.564+11588C>A - IntronicSNV - 5/7
9-95153729-C-G CENPP c.564+11588C>G - IntronicSNV - 5/7
8-79607893-A-G ZC2HC1A c.505-1749A>G - IntronicSNV - 5/8
16-28583865-C-T SGF29 c.1-8526C>T - IntronicSNV - 1/9
20-47865509-G-A ZNFX1 c.4052C>T p.Thr1351Ile Missense 14/14 -
16-68384496-T-C PRMT7 c.1414-1655T>C - IntronicSNV - 14/18
2-60753593-C-A BCL11A c.385+19513G>T - IntronicSNV - 2/3
10-124139393-C-T PLEKHA1 c.-21+5071C>T - intron_variant - 1/11
2-60753593-C-G BCL11A c.385+19513G>C - IntronicSNV - 2/3
12-56740682-C-G STAT2 c.1782G>C p.Met594Ile Missense 20/24 -
16-67879827-C-A CENPT c.-492+1477G>T - intron_variant - 1/15
6-35246903-G-A ZNF76 c.1-2026G>A - IntronicSNV - 1/13
17-76739850-C-T CYTH1 c.23-34036G>A - IntronicSNV - 1/12
10-63811678-T-C ARID5B c.846+919T>C - IntronicSNV - 5/9
12-109886603-G-A KCTD10 c.*2797C>T - 3-UTRSNV 7/7 -
6-36645696-A-G CDKN1A c.-20A>G - 5_prime_UTR_variant 2/4 -
5-131717050-G-A SLC22A5 c.498-2789G>A - IntronicSNV - 2/9
1-2110848-T-G PRKCZ c.1575+4096T>G - IntronicSNV - 16/17
19-49208501-A-G FUT2 c.*1256A>G - 3-UTRSNV 2/2 -
15-74228810-G-A LOXL1 c.1103-6385G>A - IntronicSNV - 1/6
1-2110260-G-A PRKCZ c.1575+3508G>A - IntronicSNV - 16/17
3-38023553-A-G CTDSPL c.*1195A>G - 3-UTRSNV 7/7 -
1-203831261-G-A SNRPE c.55-63G>A - IntronicSNV - 1/4
20-33569511-T-C MYH7B c.653+648T>C - IntronicSNV - 9/44
15-100271821-G-A LYSMD4 c.194+102C>T - IntronicSNV - 3/5
8-144992862-A-T PLEC c.11208T>A p.Ala3736Ala Synonymous 33/33 -
6-152129077-T-A ESR1 c.30T>A p.Ser10Ser Synonymous 1/8 -
2-103049074-A-G IL18RAP c.580-4598A>G - IntronicSNV - 5/11
16-72101525-C-G HPR c.5+4366C>G - IntronicSNV - 1/4
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
19-19468734-G-A MAU2 c.*2143G>A - 3-UTRSNV 19/19 -
19-19468734-G-C MAU2 c.*2143G>C - 3-UTRSNV 19/19 -
3-52727257-G-A GNL3 c.1099G>A p.Val367Met Missense 11/15 -
19-41905540-C-T BCKDHA c.108+1700C>T - IntronicSNV - 1/8
4-1730299-A-G TACC3 c.1170A>G p.Ala390Ala Synonymous 4/16 -
8-144992862-A-G PLEC c.11208T>C p.Ala3736Ala Synonymous 33/33 -
17-45506682-T-G EFCAB13 c.2495-502T>G - IntronicSNV - 23/24
17-45506682-T-A EFCAB13 c.2495-502T>A - IntronicSNV - 23/24
10-120970543-G-A GRK5 c.52+3062G>A - IntronicSNV - 1/15
6-35420967-G-C FANCE c.248+397G>C - IntronicSNV - 1/9
11-64110683-G-C CCDC88B c.1095G>C p.Ala365Ala Synonymous 11/27 -
11-116770517-A-G SIK3 c.617-2484T>C - intron_variant - 4/23
3-134202506-T-G ANAPC13 c.1-760A>C - IntronicSNV - 1/2
12-124446898-T-C CCDC92 c.-60+10178A>G - intron_variant - 1/4
17-63549488-A-G AXIN2 c.816-3710T>C - IntronicSNV - 2/10
2-165398259-G-T GRB14 c.481+5911C>A - IntronicSNV - 3/13
17-37794351-T-C STARD3 c.-52+867T>C - intron_variant - 1/14
17-63549488-A-C AXIN2 c.816-3710T>G - IntronicSNV - 2/10
5-179738101-A-G GFPT2 c.1546+1329T>C - IntronicSNV - 15/18
19-45404691-A-G TOMM40 c.946+124A>G - IntronicSNV - 9/9
1-2529360-G-A MMEL1 c.1272+286C>T - IntronicSNV - 13/23
1-2529360-G-C MMEL1 c.1272+286C>G - IntronicSNV - 13/23
16-53474250-G-A RBL2 c.371+1192G>A - IntronicSNV - 2/21
7-73027450-C-A MLXIPL c.400+2951G>T - IntronicSNV - 2/16
7-73027450-C-G MLXIPL c.400+2951G>C - IntronicSNV - 2/16
3-52864135-T-C ITIH4 c.90+434A>G - IntronicSNV - 1/23
2-44004099-T-G DYNC2LI1 c.126+61T>G - IntronicSNV - 2/12
2-131877646-G-A PLEKHB2 c.1-869G>A - IntronicSNV - 1/7
4-1352954-G-A UVSSA c.1176+3921G>A - IntronicSNV - 7/13
3-134254989-C-G CEP63 c.442-1008C>G - IntronicSNV - 6/15
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
16-31075175-G-A ZNF668 c.606C>T p.Gly202Gly Synonymous 2/3 -
2-27711893-A-G IFT172 c.39+589T>C - IntronicSNV - 1/47
2-27711893-A-C IFT172 c.39+589T>G - IntronicSNV - 1/47
8-25310275-G-A KCTD9 c.48+5440C>T - IntronicSNV - 1/11
3-185384473-C-A IGF2BP2 c.1200+5856G>T - IntronicSNV - 10/15
4-48894981-G-A OCIAD2 c.265+1042C>T - IntronicSNV - 5/5
11-61581764-T-C FADS1 c.376-939A>G - IntronicSNV - 1/11
16-28988269-C-G SPNS1 c.308-960C>G - IntronicSNV - 2/11
1-230279410-G-A GALNT2 c.127-34554G>A - IntronicSNV - 1/15
17-38496320-G-A RARA c.179-8248G>A - IntronicSNV - 2/8
12-123518866-T-C PITPNM2 c.78+194A>G - IntronicSNV - 2/24
7-150707488-C-T NOS3 c.2685+113C>T - IntronicSNV - 21/26
22-39798449-T-G TAB1 c.33+2609T>G - IntronicSNV - 1/10
22-39798449-T-C TAB1 c.33+2609T>C - IntronicSNV - 1/10
16-778158-C-G HAGHL c.213C>G p.Pro71Pro Synonymous 3/8 -
16-778158-C-T HAGHL c.213C>T p.Pro71Pro Synonymous 3/8 -
8-25280355-A-T GNRH1 c.141+351T>A - IntronicSNV - 2/3
12-120902279-T-G SRSF9 c.350-354A>C - IntronicSNV - 2/3
12-120902279-T-C SRSF9 c.350-354A>G - IntronicSNV - 2/3
11-118989098-C-A C2CD2L c.*2132C>A - IntergenicSNV 14/14 -
11-118989098-C-G C2CD2L c.*2132C>G - IntergenicSNV 14/14 -
11-65732800-T-C SART1 c.555-13T>C - IntronicSNV - 4/19
7-1896413-A-G MAD1L1 c.1999-40549T>C - IntronicSNV - 18/18
9-136291063-C-T ADAMTS13 c.420C>T p.Ala140Ala Synonymous 5/29 -
5-153646663-A-T GALNT10 c.160-27713A>T - IntronicSNV - 1/11
22-39266451-C-A CBX6 c.246+1034G>T - IntronicSNV - 4/4
9-139257411-T-C DNLZ c.368+30A>G - IntronicSNV - 2/2
3-52975987-C-G SFMBT1 c.364+1382G>C - IntronicSNV - 4/20
20-33484545-G-T ACSS2 c.374+13753G>T - IntronicSNV - 2/17
3-50010571-G-T RBM6 c.1413+990G>T - IntronicSNV - 4/20
6-33670028-A-C UQCC2 c.139-831T>G - IntronicSNV - 1/3
3-136056861-T-C STAG1 c.*235A>G - 3-UTRSNV 34/34 -
12-123697898-T-C MPHOSPH9 c.1087+1393A>G - IntronicSNV - 7/23
15-74275676-A-G STOML1 c.*602T>C - 3-UTRSNV 7/7 -
12-123697898-T-A MPHOSPH9 c.1087+1393A>T - IntronicSNV - 7/23
7-2797267-T-C GNA12 c.526-24132A>G - IntronicSNV - 2/3
17-38489170-A-G RARA c.178+1522A>G - IntronicSNV - 2/8
1-2082489-G-A PRKCZ c.876+72G>A - IntronicSNV - 9/17
3-49810961-A-G IP6K1 c.-129+12826T>C - intron_variant - 1/5
22-31283719-C-G OSBP2 c.1300+114C>G - IntronicSNV - 4/13
1-2045886-G-T PRKCZ c.335-20815G>T - IntronicSNV - 4/17
12-56648777-C-T ANKRD52 c.463-41G>A - IntronicSNV - 5/27
16-749057-G-A FBXL16 c.1-1652C>T - IntronicSNV - 1/5
8-145040856-G-A PLEC c.193+8489C>T - IntronicSNV - 2/32
4-8617560-G-A CPZ c.1470+1335G>A - IntronicSNV - 8/9
2-100744683-G-A AFF3 c.-145+14263C>T - intron_variant - 1/23
4-8617560-G-T CPZ c.1470+1335G>T - IntronicSNV - 8/9
4-8617560-G-C CPZ c.1470+1335G>C - IntronicSNV - 8/9
2-23931036-C-T KLHL29 c.*1502C>T - 3-UTRSNV 14/14 -
1-157669278-C-T FCRL3 c.52+204G>A - IntronicSNV - 3/14
1-157669278-C-G FCRL3 c.52+204G>C - IntronicSNV - 3/14
1-157669278-C-A FCRL3 c.52+204G>T - IntronicSNV - 3/14
2-23931036-C-A KLHL29 c.*1502C>A - 3-UTRSNV 14/14 -
17-7414958-G-T POLR2A c.4101+51G>T - IntronicSNV - 24/28
9-98248387-A-G PTCH1 c.395-231T>C - IntronicSNV - 2/23
17-7414958-G-C POLR2A c.4101+51G>C - IntronicSNV - 24/28
7-56150289-A-G PHKG1 c.548-343T>C - IntronicSNV - 6/9
3-52765646-C-T NEK4 c.2433+5956G>A - IntronicSNV - 15/15
3-50078221-T-A RBM6 c.1558-7457T>A - IntronicSNV - 6/20
16-28847246-T-C ATXN2L c.2896-8T>C - IntronicSNV - 21/21
11-122534504-T-C UBASH3B c.161+7586T>C - IntronicSNV - 1/13
3-56628031-G-T CCDC66 c.1277G>T p.Arg426Leu Missense 10/18 -
3-56628031-G-A CCDC66 c.1277G>A p.Arg426Gln Missense 10/18 -
1-171711152-A-C VAMP4 c.-152T>G - 5_prime_UTR_variant 1/8 -
6-35203745-T-C SCUBE3 c.713-1934T>C - IntronicSNV - 6/21
16-28618071-C-T SULT1A1 c.594+11G>A - IntronicSNV - 6/7
17-19578140-T-C ALDH3A2 c.1444-731T>C - IntronicSNV - 9/9
2-27693485-T-C IFT172 c.1692+310A>G - IntronicSNV - 16/47
16-72088964-C-T HP c.5+408C>T - IntronicSNV - 1/6
1-2071340-C-A PRKCZ c.421-4309C>A - IntronicSNV - 5/17
8-145051414-G-A PARP10 c.*238C>T - 3-UTRSNV 11/11 -
8-145021428-G-C PLEC c.194-8568C>G - IntronicSNV - 2/32
16-68228119-T-C NFATC3 c.3106+2441T>C - IntronicSNV - 9/10
16-28545587-G-C NUPR1 c.*3417C>G - 3_prime_UTR_variant 3/3 -
16-28545587-G-A NUPR1 c.*3417C>T - 3_prime_UTR_variant 3/3 -
1-46094027-A-G GPBP1L1 c.1326T>C p.Ser442Ser Synonymous 13/13 -
1-183936470-G-A COLGALT2 c.832+1933C>T - IntronicSNV - 5/11
9-123370345-C-T MEGF9 c.1088-57G>A - IntronicSNV - 4/5
5-156383422-A-G TIMD4 c.59-1655T>C - IntronicSNV - 1/8
5-156383422-A-C TIMD4 c.59-1655T>G - IntronicSNV - 1/8
16-69373414-T-A COG8 c.42A>T p.Thr14Thr Synonymous 1/6 -
17-37571925-T-C MED1 c.1298-333A>G - IntronicSNV - 14/16
19-11139636-G-T SMARCA4 c.3382+1010G>T - IntronicSNV - 24/34
19-19469296-G-T MAU2 c.*2705G>T - 3-UTRSNV 19/19 -
13-114876521-C-G RASA3 c.55+21389G>C - IntronicSNV - 1/23
13-114876521-C-A RASA3 c.55+21389G>T - IntronicSNV - 1/23
6-34773727-C-T UHRF1BP1 c.44+13656C>T - IntronicSNV - 1/20
1-2525660-G-A MMEL1 c.1747+164C>T - IntronicSNV - 18/23
20-34239382-C-T RBM12 c.*1064G>A - 3-UTRSNV 3/3 -
9-139270876-G-C SNAPC4 c.4342C>G p.Pro1448Ala Missense 22/23 -
7-2781249-G-A GNA12 c.526-8114C>T - IntronicSNV - 2/3
7-2781249-G-C GNA12 c.526-8114C>G - IntronicSNV - 2/3
16-28545587-G-T NUPR1 c.*3417C>A - 3_prime_UTR_variant 3/3 -
19-46182304-T-A GIPR c.1152+820T>A - IntronicSNV - 12/13
12-124470333-T-C ZNF664 c.-756-2257T>C - intron_variant - 2/4
9-123370345-C-A MEGF9 c.1088-57G>T - IntronicSNV - 4/5
10-104824387-G-A CNNM2 c.2074-3999G>A - IntronicSNV - 4/7
19-19440066-C-G MAU2 c.277-6461C>G - IntronicSNV - 1/18
19-19469296-G-C MAU2 c.*2705G>C - 3-UTRSNV 19/19 -
19-19469296-G-A MAU2 c.*2705G>A - 3-UTRSNV 19/19 -
9-139121740-A-C QSOX2 c.329-3020T>G - IntronicSNV - 1/11
11-130773076-G-A SNX19 c.2573+74C>T - IntronicSNV - 8/10
13-114876521-C-T RASA3 c.55+21389G>A - IntronicSNV - 1/23
21-47960493-T-C DIP2A c.2036+589T>C - IntronicSNV - 17/37
16-68210604-A-G NFATC3 c.1915+2187A>G - IntronicSNV - 6/10
9-139270876-G-T SNAPC4 c.4342C>A p.Pro1448Thr Missense 22/23 -
16-88766359-C-T RNF166 c.313-219G>A - IntronicSNV - 2/5
19-3435254-T-C NFIC c.958+49T>C - IntronicSNV - 6/8
19-19649748-G-C CILP2 c.64+526G>C - IntronicSNV - 1/7
19-19649748-G-A CILP2 c.64+526G>A - IntronicSNV - 1/7
17-7411447-C-T POLR2A c.3241-123C>T - IntronicSNV - 19/28
3-52567014-G-T NT5DC2 c.121+1535C>A - IntronicSNV - 1/13
9-136132754-C-A ABO c.371+42G>T - intron_variant - 7/7
18-21120444-T-A NPC1 c.2572A>T p.Ile858Phe Missense 17/25 -
16-67671804-T-G CTCF c.*29T>G - 3-UTRSNV 12/12 -
16-67671804-T-A CTCF c.*29T>A - 3-UTRSNV 12/12 -
18-21120444-T-C NPC1 c.2572A>G p.Ile858Val Missense 17/25 -
3-141078188-C-A ZBTB38 c.-738-9275C>A - intron_variant - 1/7
15-48766015-T-A FBN1 c.4210+437A>T - IntronicSNV - 34/65
5-141530696-G-C NDFIP1 c.*3-600G>C - intron_variant - 7/7
8-27402074-A-G EPHX2 c.*35A>G - 3-UTRSNV 19/19 -
1-230317687-C-T GALNT2 c.220+3630C>T - IntronicSNV - 2/15
17-37833328-A-G PGAP3 c.433-2396T>C - IntronicSNV - 3/7
10-101293468-A-G NKX2-3 c.358+222A>G - IntronicSNV - 1/1
17-37810218-C-G STARD3 c.219+215C>G - IntronicSNV - 2/14
10-101293468-A-C NKX2-3 c.358+222A>C - IntronicSNV - 1/1
6-36107172-G-A MAPK13 c.*22G>A - 3-UTRSNV 12/12 -
20-33577361-A-G MYH7B c.1714-182A>G - IntronicSNV - 19/44
16-28565667-C-A SGF29 c.-16+249C>A - intron_variant - 1/9
14-35588296-A-T PPP2R3C c.59-2353T>A - IntronicSNV - 1/12
7-2046188-G-C MAD1L1 c.1360-4432C>G - IntronicSNV - 13/18
1-45890155-T-C TESK2 c.223-2637A>G - IntronicSNV - 2/10
16-50739582-C-G NOD2 c.541-2184C>G - IntronicSNV - 2/11
2-27703495-A-T IFT172 c.785+418T>A - IntronicSNV - 8/47
9-139271355-T-C SNAPC4 c.4285-422A>G - IntronicSNV - 21/22
1-41618442-A-T SCMH1 c.1-96T>A - IntronicSNV - 3/15
14-35594106-C-T KIAA0391 c.986+669C>T - IntronicSNV - 2/7
2-219374117-T-A USP37 c.1025+585A>T - IntronicSNV - 11/25
3-11650010-G-A VGLL4 c.65-6514C>T - IntronicSNV - 2/5
16-769538-G-A METRN c.*2151G>A - IntergenicSNV 4/4 -
3-46289113-G-A CCR3 c.-18+5084G>A - intron_variant - 1/2
1-2121118-C-T FAAP20 c.*30G>A - 3-UTRSNV 4/4 -
16-28565667-C-G SGF29 c.-16+249C>G - intron_variant - 1/9
3-51033741-T-C DOCK3 c.315+62233T>C - IntronicSNV - 5/52
10-104697781-C-T CNNM2 c.1621+17923C>T - IntronicSNV - 1/7
17-37551988-G-A FBXL20 c.42+5626C>T - IntronicSNV - 1/14
7-2046188-G-A MAD1L1 c.1360-4432C>T - IntronicSNV - 13/18
15-43617493-T-C LCMT2 c.*3134A>G - IntergenicSNV 1/1 -
2-27703495-A-G IFT172 c.785+418T>C - IntronicSNV - 8/47
19-19578591-G-A GATAD2A c.269+2168G>A - IntronicSNV - 2/11
1-2051513-T-G PRKCZ c.335-15188T>G - IntronicSNV - 4/17
16-750107-C-T FBXL16 c.1-2702G>A - IntronicSNV - 1/5
20-47582884-G-A ARFGEF2 c.1059+324G>A - IntronicSNV - 8/38
12-121441333-T-A C12orf43 c.*623A>T - 3-UTRSNV 6/6 -
14-104002234-G-A TRMT61A c.*1076G>A - 3-UTRSNV 4/4 -
8-145279531-T-A MROH1 c.1338+1398T>A - IntronicSNV - 14/43
9-98256309-G-A PTCH1 c.395-8153C>T - IntronicSNV - 2/23
15-85226652-A-T SEC11A c.312-2589T>A - IntronicSNV - 3/5
6-33691501-G-T IP6K3 c.766-537C>A - IntronicSNV - 5/5
9-107665978-C-A ABCA1 c.1-18G>T - 5-UTRSNV 2/50 -
3-191084242-C-A CCDC50 c.331-3466C>A - IntronicSNV - 4/10
3-191084242-C-T CCDC50 c.331-3466C>T - IntronicSNV - 4/10
15-89868256-A-C POLG c.1949+425T>G - IntronicSNV - 10/22
3-52720080-A-C GNL3 c.1-29A>C - 5-UTRSNV 1/15 -
6-35021517-G-A ANKS1A c.2011-359G>A - IntronicSNV - 11/23
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 -
3-141140968-C-T ZBTB38 c.-1+18095C>T - intron_variant - 7/7
3-72447890-C-G RYBP c.129-19312G>C - IntronicSNV - 1/3
17-59470055-A-T BCAS3 c.*569A>T - 3-UTRSNV 24/24 -
17-59470055-A-C BCAS3 c.*569A>C - 3-UTRSNV 24/24 -
6-34825662-T-C UHRF1BP1 c.1735T>C p.Leu579Leu Synonymous 13/21 -
2-233790482-C-G NGEF c.526+1272G>C - IntronicSNV - 4/14
19-54612628-A-G TFPT c.353+806T>C - IntronicSNV - 3/5
2-219402371-G-A USP37 c.681-2942C>T - IntronicSNV - 8/25
5-131821558-A-G IRF1 c.668-150T>C - IntronicSNV - 7/9
19-11240053-G-A LDLR c.2390-136G>A - IntronicSNV - 16/17
4-144448347-A-G SMARCA5 c.802-674A>G - IntronicSNV - 6/23
7-38256938-C-T STARD3NL c.553+32C>T - IntronicSNV - 6/8
7-38256938-C-A STARD3NL c.553+32C>A - IntronicSNV - 6/8
4-2197313-C-T POLN c.909-2270G>A - IntronicSNV - 6/25
17-40725656-G-C PSMC3IP c.338-51C>G - IntronicSNV - 4/7
17-40725656-G-A PSMC3IP c.338-51C>T - IntronicSNV - 4/7
9-95872885-C-T CARD19 c.186C>T p.Leu62Leu Synonymous 3/6 -
13-115002305-G-A CDC16 c.135G>A p.Gln45Gln Synonymous 3/19 -
13-115002305-G-T CDC16 c.135G>T p.Gln45His Missense 3/19 -
11-679915-G-A DEAF1 c.998-99C>T - IntronicSNV - 7/11
17-30199537-T-A UTP6 c.1496+860A>T - IntronicSNV - 16/18
6-33670482-A-T UQCC2 c.139-1285T>A - IntronicSNV - 1/3
7-1948110-G-A MAD1L1 c.1808-10084C>T - IntronicSNV - 17/18
2-10194192-T-C KLF11 c.*1558T>C - 3-UTRSNV 4/4 -
20-33864484-A-G MMP24 c.*2072A>G - 3-UTRSNV 9/9 -
16-67942320-G-A PSKH1 c.1-333G>A - IntronicSNV - 1/2
16-1007461-A-C LMF1 c.194-2795T>G - IntronicSNV - 1/10
1-2059143-G-A PRKCZ c.335-7558G>A - IntronicSNV - 4/17
1-2059143-G-T PRKCZ c.335-7558G>T - IntronicSNV - 4/17
19-11240053-G-T LDLR c.2390-136G>T - IntronicSNV - 16/17
4-144448347-A-T SMARCA5 c.802-674A>T - IntronicSNV - 6/23
17-40725656-G-T PSMC3IP c.338-51C>A - IntronicSNV - 4/7
12-124826462-C-T NCOR2 c.5095G>A p.Ala1699Thr Missense 36/49 -
12-124826462-C-G NCOR2 c.5095G>C p.Ala1699Pro Missense 36/49 -
7-2775718-G-A GNA12 c.526-2583C>T - IntronicSNV - 2/3
19-19740729-C-A GMIP c.*43G>T - 3-UTRSNV 21/21 -
19-19740729-C-G GMIP c.*43G>C - 3-UTRSNV 21/21 -
2-219473914-A-T PLCD4 c.-34+1121A>T - intron_variant - 1/15
20-62272583-G-T STMN3 c.*108C>A - 3-UTRSNV 5/5 -
6-44799657-A-G SUPT3H c.946-2063T>C - IntronicSNV - 12/12
19-17361116-G-A USHBP1 c.2030C>T p.Ala677Val Missense 13/13 -
7-1881369-C-G MAD1L1 c.1999-25505G>C - IntronicSNV - 18/18
7-1881369-C-T MAD1L1 c.1999-25505G>A - IntronicSNV - 18/18
10-60003684-G-A IPMK c.191-6109C>T - IntronicSNV - 1/5
10-60003684-G-C IPMK c.191-6109C>G - IntronicSNV - 1/5
16-68258981-G-T NFATC3 c.*4-1272G>T - intron_variant - 10/10
16-646865-C-G RAB40C c.142+6432C>G - IntronicSNV - 1/5
16-646865-C-T RAB40C c.142+6432C>T - IntronicSNV - 1/5
4-1731126-G-A TACC3 c.1385+612G>A - IntronicSNV - 4/15
16-31081585-A-G ZNF668 c.-23+3395T>C - intron_variant - 1/2
2-24194314-C-G UBXN2A c.180+30C>G - IntronicSNV - 3/6
16-68064472-T-C DUS2 c.-19+5075T>C - intron_variant - 2/16
1-92941357-A-G GFI1 c.*229T>C - 3-UTRSNV 7/7 -
11-47354787-C-T MYBPC3 c.3288G>A p.Glu1096Glu Synonymous 30/35 -
16-53520613-G-A RBL2 c.3250-3429G>A - IntronicSNV - 21/21
14-65539463-C-G MAX c.171+20963G>C - IntronicSNV - 3/3
17-59479580-C-A TBX2 c.663+268C>A - IntronicSNV - 2/6
11-47286414-G-A NR1H3 c.808+2845G>A - IntronicSNV - 6/8
6-126661154-T-C CENPW c.1-266T>C - IntergenicSNV 1/3 -
2-219108913-C-A ARPC2 c.550-1230C>A - IntronicSNV - 6/9
7-1923695-C-T MAD1L1 c.1998+14141G>A - IntronicSNV - 18/18
7-2854380-A-T GNA12 c.310-19603T>A - IntronicSNV - 1/3
6-35256719-T-A ZNF76 c.432+1097T>A - IntronicSNV - 5/13
9-136132617-G-A ABO c.371+179C>T - intron_variant - 7/7
2-219353195-C-T USP37 c.1473-51G>A - IntronicSNV - 14/25
12-109938465-A-T UBE3B c.1119-711A>T - IntronicSNV - 12/27
16-2260935-G-C BRICD5 c.1-101C>G - 5-UTRSNV 1/6 -
15-74229603-T-C LOXL1 c.1103-5592T>C - IntronicSNV - 1/6
1-110198727-C-G GSTM4 c.1-285C>G - 5-UTRSNV 1/8 -
16-28606160-G-A SULT1A2 c.372+528C>T - IntronicSNV - 4/7
20-34283626-A-G NFS1 c.408+673T>C - IntronicSNV - 4/12
18-21619931-A-T TTC39C c.1-24189A>T - IntronicSNV - 1/13
10-101976501-G-C CHUK c.933+1251C>G - IntronicSNV - 9/20
7-21520212-T-G SP4 c.1908-1330T>G - IntronicSNV - 4/5
1-230313911-T-C GALNT2 c.127-53T>C - IntronicSNV - 1/15
19-37583042-G-C ZNF420 c.136+1019G>C - IntronicSNV - 4/4
1-2082566-T-C PRKCZ c.876+149T>C - IntronicSNV - 9/17
16-67655133-T-C CTCF c.1208-212T>C - IntronicSNV - 6/11
6-109903786-C-T AK9 c.2114+2540G>A - IntronicSNV - 19/40
20-33306904-T-C NCOA6 c.6149-3735A>G - IntronicSNV - 14/14
10-69932878-T-G MYPN c.1974-945T>G - IntronicSNV - 10/19
7-23483815-A-G IGF2BP3 c.236+24286T>C - IntronicSNV - 2/14
1-17301672-T-C MFAP2 c.448+92A>G - IntronicSNV - 8/8
10-124164654-A-G PLEKHA1 c.245-1438A>G - IntronicSNV - 4/11
10-81114060-G-A PPIF c.*462G>A - 3-UTRSNV 6/6 -
10-70527832-T-C CCAR1 c.2298+1996T>C - IntronicSNV - 17/24
5-74908446-G-C ANKDD1B c.193+794G>C - IntronicSNV - 1/13
16-28606160-G-T SULT1A2 c.372+528C>A - IntronicSNV - 4/7
18-21619931-A-G TTC39C c.1-24189A>G - IntronicSNV - 1/13
1-9300608-T-C H6PD c.1-4386T>C - IntronicSNV - 1/4
3-51432895-T-C RBM15B c.*1392T>C - 3-UTRSNV 1/1 -
7-2267666-G-A MAD1L1 c.150+1953C>T - IntronicSNV - 3/18
16-68335392-T-C SLC7A6 c.*4161T>C - 3-UTRSNV 11/11 -
6-44796596-C-T SUPT3H c.*957G>A - 3-UTRSNV 13/13 -
16-28988269-C-T SPNS1 c.308-960C>T - IntronicSNV - 2/11
8-116602874-G-A TRPS1 c.2097-3043C>T - IntronicSNV - 4/6
10-104844872-T-C CNNM2 c.*7935T>C - IntergenicSNV 8/8 -
10-124164654-A-C PLEKHA1 c.245-1438A>C - IntronicSNV - 4/11
20-33718706-G-A EDEM2 c.844+739C>T - IntronicSNV - 7/10
11-61579760-T-C FADS1 c.684+183A>G - 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 -
6-33656850-C-G ITPR3 c.6695-165C>G - IntronicSNV - 49/57
13-33341817-A-G PDS5B c.3625-2442A>G - IntronicSNV - 31/34
17-7406134-A-T POLR2A c.2756+114A>T - IntronicSNV - 16/28
11-116796846-A-T SIK3 c.616+1089T>A - intron_variant - 4/23
17-7406134-A-G POLR2A c.2756+114A>G - IntronicSNV - 16/28
15-91426560-G-C FURIN c.*1452G>C - 3-UTRSNV 16/16 -
15-91426560-G-A FURIN c.*1452G>A - 3-UTRSNV 16/16 -
11-48050995-A-G PTPRJ c.96+48435A>G - IntronicSNV - 1/8
19-11224265-A-G LDLR c.1413A>G p.Arg471Arg Synonymous 10/18 -
2-232788325-C-T NPPC c.*21-1300G>A - intron_variant - 2/2
12-123569375-A-G PITPNM2 c.-96+25557T>C - intron_variant - 1/24
12-123569375-A-T PITPNM2 c.-96+25557T>A - intron_variant - 1/24
11-130779668-T-C SNX19 c.2034+245A>G - IntronicSNV - 4/10
1-243420388-A-G SDCCAG8 c.67+846A>G - IntronicSNV - 1/17
20-33923566-A-G UQCC1 c.573+11401T>C - IntronicSNV - 7/9
7-56140618-T-G SUMF2 c.225-72T>G - intron_variant - 2/8
16-28582849-A-G SGF29 c.1-9542A>G - IntronicSNV - 1/9
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
22-39797779-G-C TAB1 c.33+1939G>C - IntronicSNV - 1/10
12-125335253-C-A SCARB1 c.126+12888G>T - IntronicSNV - 1/12
3-49878113-T-C TRAIP c.705+305A>G - IntronicSNV - 8/14
12-94163463-C-G CRADD c.299-80283C>G - IntronicSNV - 2/2
3-50678280-G-A MAPKAPK3 c.359+344G>A - IntronicSNV - 3/10
7-150667210-C-T KCNH2 c.307+4589G>A - IntronicSNV - 2/14
20-33649930-T-C TRPC4AP c.415-4556A>G - IntronicSNV - 3/18
6-33710038-T-C IP6K3 c.-180+4497A>G - intron_variant - 1/5
9-139107879-C-T QSOX2 c.1209+567G>A - IntronicSNV - 9/11
1-2048729-G-A PRKCZ c.335-17972G>A - IntronicSNV - 4/17
4-145568352-T-C HHIP c.279+246T>C - IntronicSNV - 1/12
9-139327439-A-G INPP5E c.1248T>C p.Thr416Thr Synonymous 5/10 -
3-49714225-T-G APEH c.852T>G p.Tyr284* Nonsense 9/22 -
3-49714225-T-C APEH c.852T>C p.Tyr284Tyr Synonymous 9/22 -
12-123528405-G-T PITPNM2 c.1-9268C>A - IntronicSNV - 1/24
6-33648661-G-A ITPR3 c.4476+204G>A - IntronicSNV - 33/57
1-119574074-G-C WARS2 c.*1460C>G - 3-UTRSNV 6/6 -
2-232263127-G-A B3GNT7 c.697G>A p.Val233Ile Missense 2/2 -
15-85200946-G-C NMB c.157+281C>G - IntronicSNV - 1/2
10-120970027-G-A GRK5 c.52+2546G>A - IntronicSNV - 1/15
3-191081486-A-C CCDC50 c.330+2538A>C - IntronicSNV - 4/10
1-114377769-G-A PTPN22 c.1811-154C>T - IntronicSNV - 13/20
6-33650621-G-A ITPR3 c.4597+200G>A - IntronicSNV - 34/57
2-219658617-A-T CYP27A1 c.255+11457A>T - IntronicSNV - 1/8
19-19504167-T-C GATAD2A c.-7+7220T>C - intron_variant - 1/11
9-139107879-C-A QSOX2 c.1209+567G>T - IntronicSNV - 9/11
11-47432034-G-C SLC39A13 c.301+88G>C - IntronicSNV - 2/9
17-38066240-T-C GSDMB c.408-63A>G - IntronicSNV - 2/7
17-76405837-T-C PGS1 c.1403-5123T>C - IntronicSNV - 7/9
9-137301866-A-G RXRA c.610+901A>G - IntronicSNV - 4/9
14-102965897-G-A TECPR2 c.*1303G>A - 3-UTRSNV 20/20 -