PMID: 24740359

Mapping the genetic architecture of gene regulation in whole blood.

PloS one
K Schramm, C Marzi, C Schurmann, M Carstensen, E Reinmaa, R Biffar, G Eckstein, C Gieger, HJ Grabe, G Homuth, G Kastenmüller, R Mägi, A Metspalu, E Mihailov, A Peters, A Petersmann, M Roden, K Strauch, K Suhre, A Teumer, U Völker, H Völzke, R Wang-Sattler, M Waldenberger, T Meitinger, T Illig, C Herder, H Grallert, H Prokisch
2014

2594 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-140313025-C-T EXD3 c.-48+4541G>A - intron_variant - 1/21
2-11300869-T-C PQLC3 c.296+49T>C - IntronicSNV - 3/6
2-11300869-T-A PQLC3 c.296+49T>A - IntronicSNV - 3/6
12-54581064-A-G SMUG1 c.-20+539T>C - intron_variant - 2/3
1-25717365-C-G RHCE c.676G>C p.Ala226Pro Missense 5/10 -
19-50335872-A-G MED25 c.1482+200A>G - IntronicSNV - 13/17
6-144354303-G-A PLAGL1 c.-616+31285C>T - intron_variant - 1/7
4-76574403-C-T G3BP2 c.826-478G>A - IntronicSNV - 8/11
21-40584412-A-T BRWD1 c.3900+180T>A - IntronicSNV - 34/40
12-8619562-C-T CLEC6A c.369+1337C>T - IntronicSNV - 4/5
6-155536606-C-T TIAM2 c.3168+4165C>T - IntronicSNV - 14/25
1-3696000-T-C LRRC47 c.*1652A>G - IntergenicSNV 7/7 -
7-112103055-A-G IFRD1 c.906+622A>G - IntronicSNV - 8/11
14-65500149-G-A CHURC1-FNTB c.554+735G>A - IntronicSNV - 8/12
13-75881080-A-G TBC1D4 c.2594-473T>C - IntronicSNV - 14/20
17-7455536-C-T TNFSF12 c.373+1241C>T - IntronicSNV - 5/6
2-39243129-A-T SOS1 c.1859-1142T>A - IntronicSNV - 10/22
17-7455536-C-G TNFSF12 c.373+1241C>G - IntronicSNV - 5/6
17-7455536-C-A TNFSF12 c.373+1241C>A - IntronicSNV - 5/6
2-118575215-C-G DDX18 c.281C>G p.Thr94Ser Missense 2/14 -
15-44058634-G-C PDIA3 c.846-292G>C - IntronicSNV - 7/12
1-231172281-C-T FAM89A c.291+3386G>A - IntronicSNV - 1/1
2-39243129-A-G SOS1 c.1859-1142T>C - IntronicSNV - 10/22
10-1282828-T-C ADARB2 c.1361+1366A>G - IntronicSNV - 5/9
7-123381530-G-C WASL c.117+7142C>G - IntronicSNV - 1/10
20-34467215-T-C PHF20 c.1282+7464T>C - IntronicSNV - 9/17
11-124746770-T-A ROBO3 c.2780-287T>A - IntronicSNV - 17/27
19-39334811-T-A HNRNPL c.312-67A>T - IntronicSNV - 4/12
5-151042029-G-A SPARC c.*1103C>T - 3-UTRSNV 10/10 -
18-54694713-T-A WDR7 c.*275T>A - 3-UTRSNV 28/28 -
18-54694713-T-C WDR7 c.*275T>C - 3-UTRSNV 28/28 -
12-117411080-C-A FBXW8 c.637+8421C>A - IntronicSNV - 5/10
12-122212659-C-T TMEM120B c.837+31C>T - IntronicSNV - 10/11
12-117411080-C-T FBXW8 c.637+8421C>T - IntronicSNV - 5/10
12-6622111-A-G NCAPD2 c.588-1320A>G - IntronicSNV - 6/31
15-45663684-T-C GATM c.289-1965A>G - IntronicSNV - 2/8
2-131895230-T-C PLEKHB2 c.424-2513T>C - IntronicSNV - 6/7
22-50966914-T-C TYMP c.516+27A>G - IntronicSNV - 4/9
19-41310571-A-G EGLN2 c.844-1889A>G - IntronicSNV - 2/5
22-50966914-T-G TYMP c.516+27A>C - IntronicSNV - 4/9
14-96852071-T-G GSKIP c.*50T>G - 3-UTRSNV 4/4 -
14-96852071-T-C GSKIP c.*50T>C - 3-UTRSNV 4/4 -
4-177250491-T-C SPCS3 c.*1010T>C - 3-UTRSNV 5/5 -
22-31092425-T-A OSBP2 c.644+885T>A - IntronicSNV - 1/13
1-181028733-T-C MR1 c.*4332T>C - 3-UTRSNV 7/7 -
1-181028733-T-A MR1 c.*4332T>A - 3-UTRSNV 7/7 -
15-74317871-C-G PML c.1254+603C>G - IntronicSNV - 4/7
15-58765183-T-G LIPC c.88+40864T>G - IntronicSNV - 1/8
15-58765183-T-A LIPC c.88+40864T>A - IntronicSNV - 1/8
15-58765183-T-C LIPC c.88+40864T>C - IntronicSNV - 1/8
9-4719031-G-A AK3 c.444+104C>T - IntronicSNV - 3/4
9-138837113-T-C UBAC1 c.654-17A>G - IntronicSNV - 6/9
4-1224811-A-G CTBP1 c.196-2680T>C - IntronicSNV - 2/8
22-45583898-A-G NUP50 c.*3362A>G - IntergenicSNV 8/8 -
22-45583898-A-T NUP50 c.*3362A>T - IntergenicSNV 8/8 -
5-127468177-T-C SLC12A2 c.1188+1279T>C - IntronicSNV - 5/26
14-50096560-C-T DNAAF2 c.1863+3445G>A - IntronicSNV - 1/1
11-68476011-A-G TESMIN c.1335-43T>C - IntronicSNV - 9/9
9-139427066-C-T NOTCH1 c.141-8635G>A - IntronicSNV - 2/33
3-52728804-C-T GLT8D1 c.*57G>A - 3-UTRSNV 10/10 -
8-33348000-A-T MAK16 c.447+143A>T - IntronicSNV - 6/9
2-86096832-C-A ST3GAL5 c.83-6224G>T - IntronicSNV - 1/6
17-61858537-G-A DDX42 c.1-5873G>A - IntronicSNV - 2/18
17-61858537-G-C DDX42 c.1-5873G>C - IntronicSNV - 2/18
19-58084930-G-A ZNF416 c.342C>T p.Thr114Thr Synonymous 4/4 -
8-33348000-A-G MAK16 c.447+143A>G - IntronicSNV - 6/9
18-59720984-A-G PIGN c.2673-7772T>C - IntronicSNV - 30/30
17-73242501-G-T GGA3 c.201+89C>A - IntronicSNV - 3/16
6-57076552-G-C RAB23 c.1-1374C>G - IntronicSNV - 1/6
6-57076552-G-A RAB23 c.1-1374C>T - IntronicSNV - 1/6
6-125574696-A-G TPD52L1 c.300-167A>G - IntronicSNV - 4/6
2-38977371-C-T SRSF7 c.29-35G>A - IntronicSNV - 1/7
7-871369-T-C SUN1 c.1-7139T>C - IntronicSNV - 1/17
20-57478807-C-G GNAS c.393C>G p.Ile131Met Missense 5/13 -
6-133074133-G-A VNN2 c.537+2849C>T - IntronicSNV - 3/4
16-630902-C-T PIGQ c.1461C>T p.Leu487Leu Synonymous 9/11 -
20-57478807-C-T GNAS c.393C>T p.Ile131Ile Synonymous 5/13 -
3-32197092-G-A GPD1L c.619-3276G>A - IntronicSNV - 5/7
17-78184393-C-T SGSH c.1367G>A p.Arg456His Missense 8/8 -
3-32197092-G-T GPD1L c.619-3276G>T - IntronicSNV - 5/7
6-26458265-T-C BTN2A1 c.-136T>C - 5_prime_UTR_variant 1/8 -
14-21928383-T-C RAB2B c.*972A>G - 3-UTRSNV 7/7 -
19-2619143-C-T GNG7 c.-78+27079G>A - intron_variant - 2/4
1-212925361-T-C NSL1 c.500-12418A>G - IntronicSNV - 4/5
7-21545690-G-C SP4 c.2108-4950G>C - IntronicSNV - 5/5
17-78184393-C-G SGSH c.1367G>C p.Arg456Pro Missense 8/8 -
12-124110122-A-G EIF2B1 c.552-713T>C - IntronicSNV - 6/8
10-75786395-C-A VCL c.169-16446C>A - IntronicSNV - 1/20
8-103249111-T-C RRM2B c.264+1676A>G - IntronicSNV - 1/8
21-45152500-G-A PDXK c.88-1450G>A - IntronicSNV - 1/10
6-148693135-C-A SASH1 c.157-18135C>A - IntronicSNV - 1/19
2-152134149-G-A NMI c.340+1193C>T - IntronicSNV - 4/7
11-9241219-G-A DENND5A c.110-12040C>T - IntronicSNV - 1/22
1-207246004-A-G PFKFB2 c.1350+1086A>G - IntronicSNV - 14/14
9-115915624-A-G SLC31A2 c.6+2264A>G - IntronicSNV - 1/3
4-1671772-G-A FAM53A c.1-1304C>T - IntronicSNV - 1/4
3-134231251-T-C CEP63 c.222+5123T>C - IntronicSNV - 4/15
9-111753159-G-T CTNNAL1 c.520-34C>A - IntronicSNV - 3/18
2-190444392-T-C SLC40A1 c.111+147A>G - IntronicSNV - 2/7
1-150674053-T-G HORMAD1 c.1033-1394A>C - IntronicSNV - 13/14
10-111978723-T-C MXI1 c.275-9224T>C - IntronicSNV - 1/5
7-64454022-G-A ERV3-1 c.1-618C>T - IntronicSNV - 1/1
19-13870227-C-G CCDC130 c.573+141C>G - IntronicSNV - 8/9
19-13870227-C-T CCDC130 c.573+141C>T - IntronicSNV - 8/9
13-95240291-C-T TGDS c.313+2816G>A - IntronicSNV - 4/11
13-95240291-C-A TGDS c.313+2816G>T - IntronicSNV - 4/11
17-26695832-A-G VTN c.826+61T>C - IntronicSNV - 5/7
16-70393756-G-A DDX19A c.294-1565G>A - IntronicSNV - 4/11
4-39500514-T-C UGDH c.*1249A>G - 3-UTRSNV 12/12 -
1-181030499-A-G MR1 c.*6098A>G - 3-UTRSNV 7/7 -
16-66606901-G-A CKLF-CMTM1 c.79-4106G>A - IntronicSNV - 1/2
18-21759593-T-C OSBPL1A c.1910+109A>G - IntronicSNV - 20/27
7-116547015-C-T CAPZA2 c.506+619C>T - IntronicSNV - 6/9
1-180011722-A-G CEP350 c.4363-469A>G - IntronicSNV - 19/37
8-144774089-A-C ZNF707 c.256+206A>C - IntronicSNV - 6/6
22-31288769-G-C OSBP2 c.1870-340G>C - IntronicSNV - 8/13
22-31288769-G-A OSBP2 c.1870-340G>A - IntronicSNV - 8/13
22-20016971-G-A TANGO2 c.1-7351G>A - IntronicSNV - 1/8
11-115092997-G-T CADM1 c.722-4286C>A - IntronicSNV - 5/9
11-115092997-G-A CADM1 c.722-4286C>T - IntronicSNV - 5/9
4-39518264-C-T UGDH c.163-2460G>A - IntronicSNV - 2/11
11-65087533-A-C CDC42EP2 c.1-837A>C - IntronicSNV - 1/1
5-131665378-A-G SLC22A4 c.952-2071A>G - IntronicSNV - 5/9
1-246829616-T-C CNST c.*409T>C - 3-UTRSNV 11/11 -
17-25964779-C-T LGALS9 c.40-510C>T - IntronicSNV - 1/10
6-130390657-G-C L3MBTL3 c.1092+1091G>C - IntronicSNV - 12/22
5-180361266-A-T BTNL8 c.674-13246A>T - IntronicSNV - 3/7
1-1721479-C-T GNB1 c.699+355G>A - IntronicSNV - 9/11
10-104228149-G-A MFSD13A c.1-638G>A - IntronicSNV - 2/9
17-80680449-G-T FN3KRP c.386-231G>T - IntronicSNV - 3/5
12-66788838-C-G GRIP1 c.1829-706G>C - IntronicSNV - 15/22
10-91165833-C-T IFIT1 c.*2364C>T - 3-UTRSNV 2/2 -
20-397928-C-T RBCK1 c.168-242C>T - IntronicSNV - 2/11
10-76359075-T-A ADK c.763-1062T>A - IntronicSNV - 8/10
17-34944593-G-A GGNBP2 c.1890+918G>A - IntronicSNV - 13/13
19-52299353-A-G FPR3 c.-11+769A>G - intron_variant - 1/1
11-47393303-A-T SPI1 c.142+3881T>A - IntronicSNV - 2/4
11-2925915-T-G SLC22A18 c.144+1196T>G - IntronicSNV - 2/10
8-95418788-T-C RAD54B c.781+879A>G - IntronicSNV - 5/14
11-76700656-G-A ACER3 c.403-927G>A - IntronicSNV - 5/10
14-77241392-C-T VASH1 c.531-843C>T - IntronicSNV - 4/6
15-90392153-G-C AP3S2 c.346-11199C>G - IntronicSNV - 4/5
8-25272364-C-G DOCK5 c.*3550C>G - IntergenicSNV 52/52 -
15-90392153-G-A AP3S2 c.346-11199C>T - IntronicSNV - 4/5
12-49347819-A-C ARF3 c.-94+3274T>G - intron_variant - 1/4
2-9554255-G-A ITGB1BP1 c.151+52C>T - IntronicSNV - 3/6
4-9946163-T-C SLC2A9 c.595-2494A>G - IntronicSNV - 6/12
1-33796229-T-C PHC2 c.2004-416A>G - IntronicSNV - 11/13
16-3164699-G-A ZNF205 c.58-657G>A - IntronicSNV - 2/6
16-3164699-G-C ZNF205 c.58-657G>C - IntronicSNV - 2/6
14-21770681-A-G RPGRIP1 c.525A>G p.Pro175Pro Synonymous 4/24 -
10-99122178-T-C RRP12 c.3567+1433A>G - IntronicSNV - 30/33
1-20936176-C-T CDA c.267-4159C>T - IntronicSNV - 2/3
1-22972098-C-T C1QC c.181+1401C>T - IntronicSNV - 2/2
10-135076596-T-A ADAM8 c.*64A>T - 3-UTRSNV 23/23 -
10-135076596-T-C ADAM8 c.*64A>G - 3-UTRSNV 23/23 -
3-3193676-A-C CRBN c.1148+464T>G - IntronicSNV - 10/10
1-22972098-C-A C1QC c.181+1401C>A - IntronicSNV - 2/2
11-7692194-G-T CYB5R2 c.152-1232C>A - IntronicSNV - 3/8
22-19787736-C-T GNB1L c.732+1788G>A - IntronicSNV - 7/7
3-124990888-A-G ZNF148 c.667+5682T>C - IntronicSNV - 7/8
6-158571706-G-A SERAC1 c.129-85C>T - IntronicSNV - 3/16
6-158571706-G-C SERAC1 c.129-85C>G - IntronicSNV - 3/16
17-42977192-G-A CCDC103 c.-45G>A - 5_prime_UTR_variant 1/4 -
19-42130776-G-A CEACAM4 c.424+1199C>T - IntronicSNV - 2/6
14-59956155-A-T JKAMP c.233+1609A>T - IntronicSNV - 3/6
17-7468688-G-T SENP3 c.1068-69G>T - IntronicSNV - 4/11
19-30199851-C-T C19orf12 c.1-531G>A - IntronicSNV - 1/2
15-45341718-A-C SORD c.265+6099A>C - IntronicSNV - 3/8
11-6634149-C-A TPP1 c.*1628G>T - 3-UTRSNV 13/13 -
10-1048343-T-C GTPBP4 c.912+1390T>C - IntronicSNV - 8/16
8-17829680-T-C PCM1 c.3585-158T>C - IntronicSNV - 22/38
14-56050989-T-C KTN1 c.-31+3917T>C - intron_variant - 1/43
11-64900270-G-T SYVN1 c.379-19C>A - IntronicSNV - 4/15
1-26597144-G-A CEP85 c.1650-361G>A - IntronicSNV - 9/13
1-62189541-T-C TM2D1 c.165-83A>G - IntronicSNV - 1/6
2-10541712-T-G HPCAL1 c.-25+4666T>G - intron_variant - 2/4
1-53344976-C-G ZYG11A c.1749+1335C>G - IntronicSNV - 10/13
9-95078852-C-A NOL8 c.487-432G>T - IntronicSNV - 6/16
9-95078852-C-G NOL8 c.487-432G>C - IntronicSNV - 6/16
22-30200399-A-C ASCC2 c.1353+228T>G - IntronicSNV - 13/19
22-30200399-A-G ASCC2 c.1353+228T>C - IntronicSNV - 13/19
1-25688276-A-G TMEM50A c.*1080A>G - 3-UTRSNV 7/7 -
1-25688276-A-T TMEM50A c.*1080A>T - 3-UTRSNV 7/7 -
15-78569930-A-G DNAJA4 c.964+1860A>G - IntronicSNV - 6/7
1-26566187-G-A CEP85 c.1-88G>A - IntronicSNV - 1/13
2-228393823-C-T AGFG1 c.695-1984C>T - IntronicSNV - 5/12
2-234162415-A-G ATG16L1 c.115+1827A>G - IntronicSNV - 1/16
19-14875917-T-C ADGRE2 c.906+215A>G - IntronicSNV - 9/18
1-85402997-A-G MCOLN2 c.1335+441T>C - IntronicSNV - 11/13
1-65911672-G-T LEPR c.-21+20611G>T - intron_variant - 2/19
1-65911672-G-A LEPR c.-21+20611G>A - intron_variant - 2/19
7-5545427-T-C FBXL18 c.19-166A>G - IntronicSNV - 1/4
6-108140137-G-A SCML4 c.-60+5193C>T - intron_variant - 1/7
2-169036890-C-T STK39 c.321+1598G>A - IntronicSNV - 2/17
5-126356042-C-T MARCH3 c.-57+10000G>A - intron_variant - 1/4
19-17395055-C-T ANKLE1 c.1356C>T - synonymous_variant 6/9 -
3-88101530-T-C CGGBP1 c.*3093A>G - 3-UTRSNV 4/4 -
1-44790653-T-A ERI3 c.490-5237A>T - IntronicSNV - 3/8
4-103556316-T-A MANBA c.2158-114A>T - IntronicSNV - 15/16
3-160810355-T-A B3GALNT1 c.-153-2505A>T - intron_variant - 4/5
12-42561468-A-G YAF2 c.27-5901T>C - IntronicSNV - 1/2
3-160810355-T-C B3GALNT1 c.-153-2505A>G - intron_variant - 4/5
17-43334978-C-G SPATA32 c.14-404G>C - IntronicSNV - 1/4
1-40214944-A-G PPIE c.694+184A>G - IntronicSNV - 8/9
2-239079542-A-G ILKAP c.1038+42T>C - IntronicSNV - 11/11
1-89575088-A-G GBP2 c.1659+272T>C - IntronicSNV - 10/10
1-89575088-A-T GBP2 c.1659+272T>A - IntronicSNV - 10/10
20-33400474-T-C NCOA6 c.-164+12801A>G - intron_variant - 1/14
2-110368569-C-T SEPT10 c.30+2806G>A - IntronicSNV - 1/10
4-39031842-C-G TMEM156 c.88+2004G>C - IntronicSNV - 1/6
4-164459779-A-T MARCH1 c.520+6969T>A - IntronicSNV - 3/3
3-66294251-A-G SLC25A26 c.300+515A>G - intron_variant - 4/10
6-160207049-T-A TCP1 c.280-20A>T - IntronicSNV - 3/11
3-48972892-G-A ARIH2 c.255+7646G>A - IntronicSNV - 3/15
20-1610551-T-C SIRPG c.*3-269A>G - intron_variant - 5/5
17-15876655-T-C ADORA2B c.336-1338T>C - IntronicSNV - 1/1
10-102754033-A-T TWNK c.*766A>T - 3-UTRSNV 5/5 -
8-86181870-T-C CA13 c.669+1014T>C - IntronicSNV - 6/6
2-95692774-G-C MAL c.93+1144G>C - IntronicSNV - 1/3
10-99918947-T-C R3HCC1L c.-212-3693T>C - intron_variant - 1/8
2-95692774-G-A MAL c.93+1144G>A - IntronicSNV - 1/3
12-56114769-G-C RDH5 c.1-200G>C - IntronicSNV - 1/4
7-42960618-C-A PSMA2 c.530+839G>T - IntronicSNV - 6/7
7-42960618-C-G PSMA2 c.530+839G>C - IntronicSNV - 6/7
1-3575833-C-A TP73 c.-34+6628C>A - intron_variant - 1/13
6-69435506-A-G ADGRB3 c.757+86182A>G - IntronicSNV - 3/31
17-20923750-T-C USP22 c.418+676A>G - IntronicSNV - 3/12
1-17286210-A-G CROCC c.4032+965A>G - IntronicSNV - 26/36
14-20782165-T-C CCNB1IP1 c.298-205A>G - IntronicSNV - 5/6
9-439622-T-G DOCK8 c.5223+234T>G - IntronicSNV - 40/47
10-38140786-C-A ZNF248 c.15+4438G>T - IntronicSNV - 3/5
15-25211810-G-T SNRPN c.-294-1269G>T - intron_variant - 2/9
10-91097068-C-G IFIT3 c.6-1350C>G - IntronicSNV - 1/1
17-38068043-T-A GSDMB c.407+536A>T - IntronicSNV - 2/7
5-150850946-A-G SLC36A1 c.724-2288A>G - IntronicSNV - 7/10
1-31837632-C-G ZCCHC17 c.*592C>G - 3-UTRSNV 8/8 -
7-99500911-A-G TRIM4 c.849T>C p.Ser283Ser Synonymous 6/7 -
5-125918148-A-G ALDH7A1 c.517+395T>C - IntronicSNV - 5/17
11-113204266-C-T TTC12 c.505-1422C>T - IntronicSNV - 7/21
5-179697502-T-A MAPK9 c.123-1093A>T - IntronicSNV - 2/6
2-98339236-T-A ZAP70 c.1-1264T>A - IntronicSNV - 2/13
20-32615223-A-G RALY c.-92-4105A>G - intron_variant - 1/8
7-29066318-T-G CPVL c.1320+3875A>C - IntronicSNV - 12/12
10-38140786-C-T ZNF248 c.15+4438G>A - IntronicSNV - 3/5
21-42742212-C-G MX2 c.1-6622C>G - IntronicSNV - 1/13
1-168169452-G-C TIPRL c.*168G>C - 3-UTRSNV 7/7 -
1-168169452-G-A TIPRL c.*168G>A - 3-UTRSNV 7/7 -
1-179005970-A-G FAM20B c.1-7013A>G - IntronicSNV - 1/7
9-90171608-T-C DAPK1 c.63-48261T>C - IntronicSNV - 2/25
7-6545335-G-A GRID2IP c.2632+116C>T - IntronicSNV - 14/21
4-130035755-G-A C4orf33 c.*2809G>A - IntergenicSNV 6/6 -
1-31837632-C-T ZCCHC17 c.*592C>T - 3-UTRSNV 8/8 -
7-102102164-T-C ALKBH4 c.124-1916A>G - IntronicSNV - 1/2
20-46365359-T-C SULF2 c.415+88A>G - IntronicSNV - 3/20
6-33672747-A-C UQCC2 c.139-3550T>G - IntronicSNV - 1/3
5-93966749-A-T SLF1 c.431+301A>T - IntronicSNV - 4/20
12-125509010-A-G BRI3BP c.317-527A>G - IntronicSNV - 2/2
2-74690378-C-T MOGS c.715G>A p.Asp239Asn Missense 3/4 -
3-49600319-G-A BSN c.224+8060G>A - IntronicSNV - 1/11
19-16244817-A-G RAB8A c.*1703A>G - IntergenicSNV 8/8 -
1-159892780-G-A TAGLN2 c.1-2481C>T - IntronicSNV - 1/4
19-16244817-A-C RAB8A c.*1703A>C - IntergenicSNV 8/8 -
15-75681000-C-A SIN3A c.3021+993G>T - IntronicSNV - 16/20
1-156233479-T-C SMG5 c.1856-118A>G - IntronicSNV - 12/21
18-13759146-C-T RNMT c.1394-795C>T - IntronicSNV - 11/11
20-44412463-G-A WFDC3 c.358+4012C>T - IntronicSNV - 4/6
10-102762127-A-G LZTS2 c.1-169A>G - IntronicSNV - 1/4
1-111422676-C-T CD53 c.-18+6806C>T - intron_variant - 1/7
7-99792666-A-G STAG3 c.868-266A>G - IntronicSNV - 8/33
4-185314413-G-A IRF2 c.695-2510C>T - IntronicSNV - 7/8
2-197027792-T-G STK17B c.122+194A>C - IntronicSNV - 2/7
1-45935056-G-A TESK2 c.1-11599C>T - IntronicSNV - 1/10
1-45935056-G-C TESK2 c.1-11599C>G - IntronicSNV - 1/10
17-74774825-C-T MFSD11 c.*391C>T - 3-UTRSNV 14/14 -
20-37378363-A-G ACTR5 c.376-290A>G - IntronicSNV - 1/8
1-151744928-T-C TDRKH c.*40-466A>G - intron_variant - 13/13
5-150535262-C-T ANXA6 c.-26+1979G>A - intron_variant - 1/25
12-96382938-C-T HAL c.232-920G>A - IntronicSNV - 9/19
4-475468-T-C ZNF721 c.1-9071A>G - IntronicSNV - 1/2
1-161903270-A-G ATF6 c.1804+21100A>G - IntronicSNV - 15/15
17-38129097-C-A GSDMA c.730+231C>A - IntronicSNV - 7/11
9-115454461-C-T INIP c.128+1950G>A - IntronicSNV - 3/4
3-16328356-C-T OXNAD1 c.290+401C>T - IntronicSNV - 5/8
17-42265442-C-T TMUB2 c.-113+331C>T - intron_variant - 1/2
3-119168790-A-G TMEM39A c.420+2504T>C - IntronicSNV - 4/8
10-64149481-C-A ZNF365 c.924+1146C>A - IntronicSNV - 3/4
14-96749381-A-T ATG2B c.*2711T>A - 3-UTRSNV 42/42 -
7-128645292-A-G TNPO3 c.553-79T>C - IntronicSNV - 4/22
2-60720757-G-A BCL11A c.386-24789C>T - IntronicSNV - 2/3
14-24760764-G-A DHRS1 c.722C>T p.Thr241Ile Missense 7/9 -
22-41914593-C-T ACO2 c.1032+17C>T - IntronicSNV - 8/17
6-18174012-C-T KDM1B c.534+2302C>T - IntronicSNV - 7/17
19-55708475-G-A PTPRH c.1456+10C>T - IntronicSNV - 7/17
10-75601653-A-C CAMK2G c.946+274T>G - IntronicSNV - 12/20
8-10277494-C-T MSRA c.544-8164C>T - IntronicSNV - 5/5
13-21247165-C-T IFT88 c.2242+1987C>T - IntronicSNV - 24/25
2-86523440-G-A REEP1 c.33-14075C>T - IntronicSNV - 1/6
11-107887329-G-T CUL5 c.24+7231G>T - IntronicSNV - 1/18
20-33547633-T-G MYH7B c.-96+1618T>G - intron_variant - 2/44
2-68435431-C-G PPP3R1 c.43+8793G>C - IntronicSNV - 2/5
22-47124827-A-C CERK c.143-7915T>G - IntronicSNV - 1/12
18-34635606-G-A KIAA1328 c.577-11247G>A - IntronicSNV - 6/9
3-152107148-G-C MBNL1 c.175-25582G>C - IntronicSNV - 2/9
4-120193547-C-T USP53 c.2174+358C>T - IntronicSNV - 15/17
11-94906111-G-A SESN3 c.*308C>T - 3-UTRSNV 10/10 -
14-50727010-G-C L2HGDH c.1196+5066C>G - IntronicSNV - 9/9
6-11721129-T-C ADTRP c.658+2453A>G - IntronicSNV - 5/5
7-76820800-C-A CCDC146 c.156+23659C>A - IntronicSNV - 2/18
2-10546236-C-T HPCAL1 c.-25+9190C>T - intron_variant - 2/4
17-17090501-A-T MPRIP c.*2293A>T - 3-UTRSNV 23/23 -
12-10560957-T-C KLRC4-KLRK1 c.-364A>G - 5_prime_UTR_variant 3/13 -
16-84095254-G-A MBTPS1 c.2573-836C>T - IntronicSNV - 19/22
16-84095254-G-C MBTPS1 c.2573-836C>G - IntronicSNV - 19/22
10-27469678-G-T MASTL c.2264-204G>T - IntronicSNV - 9/11
9-123404610-T-C MEGF9 c.803+17042A>G - IntronicSNV - 2/5
22-38085523-G-A NOL12 c.381+524G>A - IntronicSNV - 4/5
9-34649442-A-G GALT c.940A>G p.Asn314Asp Missense 10/11 -
17-80071049-A-G CCDC57 c.2564-11307T>C - IntronicSNV - 16/16
21-30252562-A-G N6AMT1 c.313-287T>C - IntronicSNV - 3/5
1-12046089-G-A MFN2 c.1-3137G>A - IntronicSNV - 2/18
4-140593264-T-C MGST2 c.58+6033T>C - IntronicSNV - 1/4
22-41914593-C-G ACO2 c.1032+17C>G - IntronicSNV - 8/17
2-24342532-G-A PFN4 c.276C>T p.Val92Val Synonymous 4/5 -
21-43523972-G-C UMODL1 c.1300-6G>C - IntronicSNV - 8/22
7-44608103-A-G DDX56 c.1384-281T>C - IntronicSNV - 11/13
4-84189914-C-T COQ2 c.913-987G>A - IntronicSNV - 5/6
20-3305305-C-G C20orf194 c.1265+234G>C - IntronicSNV - 14/36
19-54604822-T-C OSCAR c.1-739A>G - IntergenicSNV - 1/5
12-124110122-A-T EIF2B1 c.552-713T>A - IntronicSNV - 6/8
17-41845235-C-A DUSP3 c.*1742G>T - 3-UTRSNV 3/3 -
9-27525751-A-G IFNK c.*2-254A>G - intron_variant - 1/1
6-28332141-G-A ZKSCAN3 c.757+549G>A - IntronicSNV - 5/5
1-22068259-G-A USP48 c.992-5141C>T - IntronicSNV - 8/26
1-22068259-G-C USP48 c.992-5141C>G - IntronicSNV - 8/26
16-163598-G-A NPRL3 c.1-968C>T - IntronicSNV - 2/11
1-173486342-A-G SLC9C2 c.2907+334T>C - IntronicSNV - 23/27
9-115986409-T-G SLC31A1 c.-36+2451T>G - intron_variant - 1/4
1-45966582-G-A MMACHC c.81+497G>A - IntronicSNV - 1/3
2-208477852-G-A METTL21A c.575C>T p.Thr192Ile Missense 4/4 -
22-36626955-A-G APOL2 c.137+431T>C - IntronicSNV - 5/5
14-104286210-C-T PPP1R13B c.10-22355G>A - IntronicSNV - 1/16
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
22-38164106-C-T TRIOBP c.6498C>T p.Tyr2166Tyr Synonymous 19/24 -
19-686181-G-A PRSS57 c.646-259C>T - IntronicSNV - 4/4
6-5272671-A-G FARS2 c.-22+10778A>G - intron_variant - 1/6
12-113327018-C-T RPH3A c.1552-811C>T - IntronicSNV - 16/20
17-44809001-A-G NSF c.1908+2701A>G - IntronicSNV - 17/20
9-102769559-G-T ERP44 c.874+301C>A - IntronicSNV - 9/11
16-5020783-A-G SEC14L5 c.63+11396A>G - IntronicSNV - 2/15
11-43869980-C-A HSD17B12 c.685-6285C>A - IntronicSNV - 9/10
11-43869980-C-T HSD17B12 c.685-6285C>T - IntronicSNV - 9/10
14-105717796-G-A BRF1 c.544+1048C>T - IntronicSNV - 5/17
7-6055882-C-G AIMP2 c.342+899C>G - IntronicSNV - 2/3
1-26698884-T-C ZNF683 c.-12+276A>G - intron_variant - 1/5
17-15876655-T-G ADORA2B c.336-1338T>G - IntronicSNV - 1/1
2-179992766-C-G SESTD1 c.973-3481G>C - IntronicSNV - 10/17
2-219144230-A-T TMBIM1 c.304-154T>A - IntronicSNV - 3/11
1-205738302-G-A RAB29 c.*1168C>T - 3-UTRSNV 6/6 -
6-110792301-G-A SLC22A16 c.53+5424C>T - IntronicSNV - 1/7
2-181880562-C-A UBE2E3 c.245+31742C>A - IntronicSNV - 3/5
8-145653006-G-A VPS28 c.1-678C>T - IntronicSNV - 1/9
17-8078765-T-C TMEM107 c.274+310A>G - IntronicSNV - 3/4
3-126178390-A-T ZXDC c.2212+106T>A - IntronicSNV - 7/9
4-77174469-A-C FAM47E c.74+1496A>C - IntronicSNV - 1/7
4-77174469-A-T FAM47E c.74+1496A>T - IntronicSNV - 1/7
3-150325498-G-C SELENOT c.137+4212G>C - IntronicSNV - 1/5
9-102769559-G-C ERP44 c.874+301C>G - IntronicSNV - 9/11
21-30252562-A-T N6AMT1 c.313-287T>A - IntronicSNV - 3/5
7-75633209-T-C STYXL1 c.600-36A>G - IntronicSNV - 6/8
6-88329942-C-T ORC3 c.559-1130C>T - IntronicSNV - 8/18
19-2619143-C-A GNG7 c.-78+27079G>T - intron_variant - 2/4
7-1142316-G-A C7orf50 c.129+24577C>T - IntronicSNV - 2/4
1-160224700-T-A DCAF8 c.-27+6375A>T - intron_variant - 2/13
9-134529936-A-G RAPGEF1 c.11-3600T>C - IntronicSNV - 1/23
11-6541225-C-G DNHD1 c.1678C>G p.Gln560Glu Missense 9/43 -
1-179460806-C-G AXDND1 c.2225C>G p.Ala742Gly Missense 19/26 -
17-16246016-A-C CENPV c.*115T>G - 3-UTRSNV 5/5 -
11-61915823-A-G INCENP c.2193-125A>G - IntronicSNV - 14/17
1-179460806-C-T AXDND1 c.2225C>T p.Ala742Val Missense 19/26 -
10-70213964-T-A DNA2 c.720-3960A>T - IntronicSNV - 5/20
16-4562351-T-C CDIP1 c.*222A>G - 3-UTRSNV 6/6 -
20-47571551-C-G ARFGEF2 c.838+1224C>G - IntronicSNV - 6/38
3-185331165-C-T SENP2 c.902C>T p.Thr301Met Missense 10/17 -
17-79191726-C-G CEP131 c.177+1954G>C - IntronicSNV - 2/25
9-108145153-G-A SLC44A1 c.1633-251G>A - IntronicSNV - 13/15
17-102209-A-G RPH3AL c.439-5133T>C - IntronicSNV - 6/9
19-49872085-G-A DKKL1 c.417+2943G>A - IntronicSNV - 4/4
1-153617773-C-A CHTOP c.*28C>A - 3-UTRSNV 6/6 -
3-108567215-T-C TRAT1 c.215-798T>C - IntronicSNV - 4/5
3-108567215-T-A TRAT1 c.215-798T>A - IntronicSNV - 4/5
3-108567215-T-G TRAT1 c.215-798T>G - IntronicSNV - 4/5
17-4615098-A-G ARRB2 c.23+1059A>G - IntronicSNV - 1/14
6-160204127-T-A TCP1 c.797+846A>T - IntronicSNV - 7/11
3-38022139-A-G CTDSPL c.673-94A>G - IntronicSNV - 6/6
1-2533552-A-C MMEL1 c.1041+1771T>G - IntronicSNV - 11/23
10-90753260-T-C FAS c.30+2597T>C - IntronicSNV - 1/8
22-37258503-T-A NCF4 c.32+1258T>A - IntronicSNV - 1/9
22-37258503-T-C NCF4 c.32+1258T>C - IntronicSNV - 1/9
10-60035372-T-C CISD1 c.32-1505T>C - IntronicSNV - 1/2
22-46685563-G-A TTC38 c.1242+105G>A - IntronicSNV - 12/13
11-6237124-C-T FAM160A2 c.2258-983G>A - IntronicSNV - 9/11
2-20179220-C-T WDR35 c.308-580G>A - IntronicSNV - 4/26
1-213069563-C-T FLVCR1 c.*931C>T - 3-UTRSNV 10/10 -
10-70924619-T-G VPS26A c.659-1179T>G - IntronicSNV - 6/8
3-121346656-C-T FBXO40 c.*899C>T - 3-UTRSNV 4/4 -
13-43613458-A-T DNAJC15 c.108+15588A>T - IntronicSNV - 1/5
14-103900827-A-C MARK3 c.297+6050A>C - IntronicSNV - 3/17
13-52601053-T-A ALG11 c.1208-1402T>A - IntronicSNV - 3/3
13-29277250-T-C SLC46A3 c.1301+830A>G - IntronicSNV - 5/5
22-36863375-C-A TXN2 c.*476G>T - 3-UTRSNV 4/4 -
14-90868442-G-A CALM1 c.178+696G>A - IntronicSNV - 3/5
1-12046063-G-T MFN2 c.1-3163G>T - IntronicSNV - 2/18
6-72006512-T-C OGFRL1 c.684T>C p.His228His Synonymous 6/7 -
5-81594748-C-T ATP6AP1L c.-805+3385C>T - intron_variant - 3/9
3-49878078-T-C TRAIP c.706-272A>G - IntronicSNV - 8/14
1-75204143-G-A TYW3 c.256-231G>A - IntronicSNV - 2/5
22-36677400-G-A MYH9 c.*1314C>T - 3-UTRSNV 41/41 -
18-3265304-G-A MYL12B c.-16+3069G>A - intron_variant - 1/3
4-88290265-G-A HSD17B11 c.557+3596C>T - IntronicSNV - 4/6
2-99745860-A-C TSGA10 c.-484-2221T>G - intron_variant - 1/19
14-105237680-G-C AKT1 c.1261-496C>G - IntronicSNV - 12/13
11-62303822-C-T AHNAK c.-1+119G>A - intron_variant - 2/5
14-35626997-T-C KIAA0391 c.1168-22879T>C - IntronicSNV - 4/7
22-19834026-A-G GNB1L c.-21+7940T>C - intron_variant - 2/7
7-37964965-T-C EPDR1 c.269+4155T>C - IntronicSNV - 1/2
7-156542221-A-G LMBR1 c.757+6866T>C - IntronicSNV - 9/16
10-12245520-G-A CDC123 c.146+4745G>A - IntronicSNV - 2/12
6-126159163-C-G NCOA7 c.51-17003C>G - IntronicSNV - 3/16
12-122079183-C-T ORAI1 c.546C>T p.Thr182Thr Synonymous 2/2 -
5-7865527-G-A FASTKD3 c.1524+484C>T - IntronicSNV - 3/6
12-69170840-C-T SLC35E3 c.*12170C>T - IntergenicSNV 5/5 -
6-126159163-C-A NCOA7 c.51-17003C>A - IntronicSNV - 3/16
7-87908388-C-T STEAP4 c.*325G>A - 3-UTRSNV 5/5 -
7-6435220-G-C RAC1 c.226-3073G>C - IntronicSNV - 3/6
9-102769559-G-A ERP44 c.874+301C>T - IntronicSNV - 9/11
19-11417200-C-T TSPAN16 c.451-80C>T - IntronicSNV - 4/6
6-146232978-A-G SHPRH c.4339-1206T>C - IntronicSNV - 24/29
3-154007682-G-C DHX36 c.1815-67C>G - IntronicSNV - 15/24
19-48606531-A-G PLA2G4C c.287+1314T>C - IntronicSNV - 4/16
2-231366562-C-A SP100 c.1721-1219C>A - IntronicSNV - 19/24
9-139938793-G-C NPDC1 c.113-1268C>G - IntronicSNV - 1/8
2-231366562-C-T SP100 c.1721-1219C>T - IntronicSNV - 19/24
19-54708646-A-G RPS9 c.221-1498A>G - IntronicSNV - 3/4
19-55738181-G-A TMEM86B c.*368C>T - 3-UTRSNV 3/3 -
8-102777476-G-C NCALD c.1-45619C>G - IntronicSNV - 1/7
20-3125017-C-G UBOX5 c.-42+15395G>C - intron_variant - 1/4
20-3125017-C-A UBOX5 c.-42+15395G>T - intron_variant - 1/4
22-38060691-G-C PDXP c.575-871G>C - IntronicSNV - 1/1
1-40219065-C-T PPIE c.*38C>T - 3-UTRSNV 10/10 -
8-28924858-C-A KIF13B c.*3163G>T - 3-UTRSNV 40/40 -
19-38743591-G-T PPP1R14A c.225C>A p.Ile75Ile Synonymous 2/4 -
11-63915700-G-A MACROD1 c.517+3011C>T - IntronicSNV - 3/10
2-198898344-A-T PLCL1 c.241-50138A>T - IntronicSNV - 1/5
10-15166725-G-A NMT2 c.999+3624C>T - IntronicSNV - 8/11
4-169843042-A-T PALLD c.3007+150A>T - IntronicSNV - 17/20
1-235590559-G-A TBCE c.560+5G>A - IntronicSNV - 6/16
7-148572504-G-A EZH2 c.-8+8752C>T - intron_variant - 1/19
3-40499273-A-G RPL14 c.4-108A>G - IntronicSNV - 1/5
6-41199102-G-C TREML4 c.506+1242G>C - IntronicSNV - 4/5
16-840378-A-G CHTF18 c.731A>G p.Lys244Arg Missense 6/22 -
3-15621143-G-A HACL1 c.803+274C>T - IntronicSNV - 9/16
19-57084124-C-T ZNF470 c.61-1639C>T - IntronicSNV - 3/5
19-38167906-T-C ZNF781 c.1-6857A>G - IntronicSNV - 3/3
19-38167906-T-A ZNF781 c.1-6857A>T - IntronicSNV - 3/3
11-85421392-A-G SYTL2 c.5745+764T>C - intron_variant - 13/19
16-86568824-A-G MTHFSD c.679-2737T>C - IntronicSNV - 7/7
2-128082232-C-T MAP3K2 c.678-415G>A - IntronicSNV - 8/15
13-28241287-G-A POLR1D c.*1197G>A - 3-UTRSNV 3/3 -
17-47008207-A-G SNF8 c.640-233T>C - IntronicSNV - 7/7
1-160779495-G-A LY9 c.455-3931G>A - IntronicSNV - 2/9
1-169287160-G-T NME7 c.278+5195C>A - IntronicSNV - 3/11
2-3481857-G-T TRAPPC12 c.1877+291G>T - IntronicSNV - 10/11
18-9918025-C-T VAPA c.79+3693C>T - IntronicSNV - 1/6
9-129184309-G-A MVB12B c.757+82G>A - IntronicSNV - 7/9
7-43664785-C-G STK17A c.*344C>G - 3-UTRSNV 7/7 -
7-99961194-A-G PILRB c.656-3778A>G - IntronicSNV - 3/3
12-58144665-C-T CDK4 c.522+41G>A - IntronicSNV - 4/7
1-165654869-T-C ALDH9A1 c.328-2522A>G - IntronicSNV - 2/10
14-65520246-T-C CHURC1-FNTB c.929+179T>C - IntronicSNV - 11/12
19-57084124-C-A ZNF470 c.61-1639C>A - IntronicSNV - 3/5
19-57084124-C-G ZNF470 c.61-1639C>G - IntronicSNV - 3/5
20-62337406-A-G ARFRP1 c.264+303T>C - IntronicSNV - 4/6
2-37292890-T-G HEATR5B c.1333+8A>C - IntronicSNV - 9/35
19-19446936-G-A MAU2 c.300G>A p.Pro100Pro Synonymous 3/19 -
5-96126308-A-T ERAP1 c.1359T>A p.Ser453Arg Missense 9/20 -
11-124967954-A-G TMEM218 c.214-318T>C - IntronicSNV - 4/4
20-13226547-C-G ISM1 c.138+23986C>G - IntronicSNV - 1/5
7-28715056-A-G CREB5 c.444-43314A>G - IntronicSNV - 5/10
18-9918025-C-G VAPA c.79+3693C>G - IntronicSNV - 1/6
5-72862314-A-G UTP15 c.-84+577A>G - intron_variant - 1/12
7-29178843-A-G CPVL c.-11+7114T>C - intron_variant - 1/12
7-29178843-A-C CPVL c.-11+7114T>G - intron_variant - 1/12
7-76871113-A-G CCDC146 c.345A>G p.Ala115Ala Synonymous 4/19 -
17-30501418-A-G RHOT1 c.178+487A>G - IntronicSNV - 3/18
22-38662284-A-T TMEM184B c.-59+6606T>A - intron_variant - 1/8
1-153346263-A-G S100A12 c.*40T>C - 3-UTRSNV 3/3 -
22-38662284-A-G TMEM184B c.-59+6606T>C - intron_variant - 1/8
22-38662284-A-C TMEM184B c.-59+6606T>G - intron_variant - 1/8
17-5284770-G-A RABEP1 c.2457G>A p.Arg819Arg Synonymous 17/18 -
14-78021267-G-C SPTLC2 c.1176+376C>G - IntronicSNV - 8/11
6-109713299-A-C PPIL6 c.*730T>G - 3-UTRSNV 9/9 -
9-85872664-T-C FRMD3 c.1196-9233A>G - IntronicSNV - 13/13
9-85872664-T-G FRMD3 c.1196-9233A>C - IntronicSNV - 13/13
5-480948-A-G SLC9A3 c.1517+732T>C - IntronicSNV - 9/16
2-152136901-A-G NMI c.178-1397T>C - IntronicSNV - 3/7
2-152136901-A-T NMI c.178-1397T>A - IntronicSNV - 3/7
20-1552430-T-C SIRPB1 c.687A>G p.Ile229Met Missense 3/6 -
17-74701165-T-G MXRA7 c.342+5522A>C - IntronicSNV - 1/4
7-40118065-A-G CDK13 c.2898-254A>G - IntronicSNV - 10/13
9-77481237-A-G TRPM6 c.34-7573T>C - IntronicSNV - 1/38
19-39421388-A-G SARS2 c.1-12T>C - 5-UTRSNV 1/16 -
21-47921839-T-C DIP2A c.656-2435T>C - IntronicSNV - 5/37
8-79450649-T-C PKIA c.-157+21946T>C - intron_variant - 1/3
12-7114074-T-G LPCAT3 c.151+11504A>C - IntronicSNV - 1/12
15-65255704-C-A SPG21 c.*257G>T - 3-UTRSNV 9/9 -
15-65255704-C-T SPG21 c.*257G>A - 3-UTRSNV 9/9 -
9-130202596-T-C ZNF79 c.329-3712T>C - IntronicSNV - 4/4
17-27093542-G-A FAM222B c.82+62C>T - IntronicSNV - 3/3
19-9601362-G-C ZNF560 c.-57+7442C>G - intron_variant - 2/9
19-9601362-G-A ZNF560 c.-57+7442C>T - intron_variant - 2/9
19-55535972-T-C GP6 c.664+614A>G - IntronicSNV - 5/7
7-97857675-T-C TECPR1 c.2411-247A>G - IntronicSNV - 16/25
3-151085578-C-T P2RY12 c.-180+16902G>A - intron_variant - 1/2
1-156224304-T-C SMG5 c.2443-1005A>G - IntronicSNV - 16/21
1-153833104-A-T GATAD2B c.1-32281T>A - IntronicSNV - 1/10
2-128522207-C-T WDR33 c.626+195G>A - IntronicSNV - 6/21
3-124487443-T-C ITGB5 c.2017+417A>G - IntronicSNV - 12/14
9-123953923-C-A RAB14 c.106+526G>T - IntronicSNV - 3/7
4-185591518-G-T PRIMPOL c.557-1809G>T - IntronicSNV - 6/13
8-27625201-G-A CCDC25 c.29-2433C>T - IntronicSNV - 1/8
6-24629106-T-A KIAA0319 c.-106+16858A>T - intron_variant - 1/20
1-186290521-C-T TPR c.6461+929G>A - IntronicSNV - 45/50
15-74312794-T-C PML c.603-2375T>C - IntronicSNV - 2/7
2-54779278-T-G SPTBN1 c.148+25575T>G - IntronicSNV - 2/35
1-155106227-A-T EFNA1 c.476A>T p.Asp159Val Missense 4/5 -
18-21127910-C-T NPC1 c.1757+60G>A - IntronicSNV - 11/24
9-77744416-A-C OSTF1 c.133-1078A>C - IntronicSNV - 3/9
5-141383109-A-G GNPDA1 c.595-282T>C - IntronicSNV - 5/6
4-159630817-T-C PPID c.*71A>G - 3-UTRSNV 10/10 -
6-35803675-T-C SRPK1 c.1784-410A>G - IntronicSNV - 15/15
12-14694877-T-G PLBD1 c.419+265A>C - IntronicSNV - 3/10
1-156101549-T-C LMNA c.513+985T>C - IntronicSNV - 2/11
9-77744416-A-G OSTF1 c.133-1078A>G - IntronicSNV - 3/9
5-145535347-G-C LARS c.1065+1619C>G - IntronicSNV - 10/31
10-75848464-T-A VCL c.1023-490T>A - IntronicSNV - 8/20
1-235387854-T-A ARID4B c.970+164A>T - IntronicSNV - 12/23
14-65520246-T-A CHURC1-FNTB c.929+179T>A - IntronicSNV - 11/12
19-55481669-T-C NLRP2 c.280+6T>C - IntronicSNV - 2/12
19-39886177-G-A MED29 c.360+1900G>A - intron_variant - 3/3
14-65407657-C-G CHURC1-FNTB c.6+16813C>G - IntronicSNV - 2/12
5-7876751-A-G MTRR c.401+1263A>G - IntronicSNV - 4/14
19-4913071-G-A UHRF1 c.153+2021G>A - IntronicSNV - 2/17
17-1690427-G-A SMYD4 c.1721-160C>T - IntronicSNV - 6/10
2-234162415-A-T ATG16L1 c.115+1827A>T - IntronicSNV - 1/16
12-96323420-G-A CCDC38 c.37+6831C>T - IntronicSNV - 2/15
7-2316852-C-G SNX8 c.300+883G>C - IntronicSNV - 2/10
4-89203670-A-G PPM1K c.-60+1888T>C - intron_variant - 1/6
2-249092-A-C SH3YL1 c.226+639T>G - IntronicSNV - 3/9
1-16526529-G-C ARHGEF19 c.2147-780C>G - IntronicSNV - 14/15
1-16526529-G-A ARHGEF19 c.2147-780C>T - IntronicSNV - 14/15
13-52311481-G-C WDFY2 c.599-1704G>C - IntronicSNV - 6/11
3-183596184-T-C PARL c.125+6326A>G - IntronicSNV - 1/9
21-43867787-G-C UBASH3A c.*483G>C - 3-UTRSNV 14/14 -
18-44475220-A-T PIAS2 c.25-4203T>A - IntronicSNV - 1/13
19-10666380-T-A KRI1 c.1618-355A>T - intron_variant - 16/18
9-111728067-C-T CTNNAL1 c.1441-259G>A - IntronicSNV - 10/18
13-100310109-A-C CLYBL c.62+51098A>C - IntronicSNV - 1/8
9-19116543-G-A PLIN2 c.1017C>T p.Ile339Ile Synonymous 8/8 -
17-80893271-C-T TBCD c.3192-1876C>T - IntronicSNV - 34/38
10-102018089-C-T CWF19L1 c.290-1856G>A - IntronicSNV - 4/13
17-56840587-A-G PPM1E c.464+6765A>G - IntronicSNV - 1/6
9-71801299-A-G TJP2 c.60+11951A>G - IntronicSNV - 1/20
10-112041579-T-C MXI1 c.724+1736T>C - IntronicSNV - 5/5
21-46903412-C-G COL18A1 c.2241+677C>G - IntronicSNV - 14/40
21-46903412-C-T COL18A1 c.2241+677C>T - IntronicSNV - 14/40
22-19168087-G-C CLTCL1 c.4903+157C>G - IntronicSNV - 31/32
1-161335758-G-A CFAP126 c.171+230C>T - IntronicSNV - 3/4
19-50378143-T-C AKT1S1 c.54-1584A>G - IntronicSNV - 1/4
3-71753986-G-A EIF4E3 c.1-5196C>T - IntronicSNV - 3/7
4-15964763-C-T FGFBP2 c.1-11G>A - 5-UTRSNV 1/2 -
3-48972892-G-C ARIH2 c.255+7646G>C - IntronicSNV - 3/15
7-2316852-C-T SNX8 c.300+883G>A - IntronicSNV - 2/10
20-3193508-T-A ITPA c.67-307T>A - IntronicSNV - 1/7
4-76404759-C-A RCHY1 c.*2989G>T - 3-UTRSNV 9/9 -
10-91532238-G-A KIF20B c.5123-208G>A - IntronicSNV - 31/32
6-133092046-C-T SLC18B1 c.1287G>A p.Glu429Glu Synonymous 13/14 -
6-90022921-C-T GABRR2 c.113+1851G>A - IntronicSNV - 1/8
3-12584005-G-A MKRN2OS c.269-484C>T - IntronicSNV - 2/3
17-18807078-G-A PRPSAP2 c.585-7338G>A - IntronicSNV - 8/11
1-113234179-C-T MOV10 c.837-108C>T - IntronicSNV - 5/20
20-1423909-C-T NSFL1C c.*485G>A - 3-UTRSNV 9/9 -
1-11887303-A-G CLCN6 c.840+25A>G - IntronicSNV - 10/22
3-125751632-T-G SLC41A3 c.453+818A>C - IntronicSNV - 4/10
21-42742212-C-A MX2 c.1-6622C>A - IntronicSNV - 1/13
3-42208663-A-G TRAK1 c.112+6698A>G - IntronicSNV - 1/12
2-143650771-C-T KYNU c.169+7666C>T - IntronicSNV - 2/11
3-47363971-G-T KLHL18 c.261-87G>T - IntronicSNV - 2/9
16-1394507-A-C BAIAP3 c.1532A>C p.Asp511Ala Missense 17/33 -
1-158943740-C-T PYHIN1 c.*184C>T - IntronicSNV - 8/8
6-485620-C-T EXOC2 c.*1051G>A - 3-UTRSNV 28/28 -
1-156304782-A-G CCT3 c.94-73T>C - IntronicSNV - 2/13
3-58370792-T-C PXK c.388+2365T>C - IntronicSNV - 4/17
2-11300869-T-G PQLC3 c.296+49T>G - IntronicSNV - 3/6
9-123789634-C-T C5 c.759-82G>A - IntronicSNV - 7/40
15-65307488-G-T MTFMT c.813+1286C>A - IntronicSNV - 6/8
14-59830880-C-A DAAM1 c.2856+380C>A - IntronicSNV - 23/24
14-53178746-G-A PSMC6 c.441+504G>A - intron_variant - 6/13
7-151255176-C-T PRKAG2 c.1679-858G>A - IntronicSNV - 15/15
12-64757513-T-C C12orf56 c.253-10677A>G - IntronicSNV - 1/10
11-63991801-T-C TRPT1 c.368A>G p.His123Arg Missense 5/7 -
3-101136402-G-A SENP7 c.482+35C>T - IntronicSNV - 5/23
3-101136402-G-C SENP7 c.482+35C>G - IntronicSNV - 5/23
12-51089734-T-C DIP2B c.1917T>C p.Thr639Thr Synonymous 16/38 -
12-51089734-T-A DIP2B c.1917T>A p.Thr639Thr Synonymous 16/38 -
14-23304094-G-A MRPL52 c.*564G>A - 3-UTRSNV 5/5 -
11-9509352-G-C ZNF143 c.646-6841G>C - IntronicSNV - 7/15
15-51375075-C-G TNFAIP8L3 c.316+11666G>C - IntronicSNV - 2/2
1-161054054-T-C NECTIN4 c.80-4315A>G - IntronicSNV - 1/8
9-123789634-C-A C5 c.759-82G>T - IntronicSNV - 7/40
17-44869567-C-T WNT3 c.81-18292G>A - IntronicSNV - 1/4
9-71794956-T-C TJP2 c.60+5608T>C - IntronicSNV - 1/20
22-17596229-T-C IL17RA c.*5519T>C - 3-UTRSNV 13/13 -
7-36746017-G-A AOAH c.127+17610C>T - IntronicSNV - 1/20
6-109371129-T-C SESN1 c.279+43869A>G - IntronicSNV - 1/9
22-44341398-C-A PNPLA3 c.1218-636C>A - IntronicSNV - 8/8
3-15555270-G-A COLQ c.106+7757C>T - IntronicSNV - 1/16
17-260747-G-A C17orf97 c.304+310G>A - IntronicSNV - 1/1
4-57922990-T-C IGFBP7 c.476-15891A>G - IntronicSNV - 1/3
19-49392548-C-T TULP2 c.636+219G>A - IntronicSNV - 7/12
7-142627138-G-A TRPV5 c.349+15C>T - IntronicSNV - 3/14
17-79191726-C-T CEP131 c.177+1954G>A - IntronicSNV - 2/25
1-235654845-T-G B3GALNT2 c.261-2272A>C - IntronicSNV - 2/11
12-122079183-C-G ORAI1 c.546C>G p.Thr182Thr Synonymous 2/2 -
1-169665632-T-C SELL c.1100+44A>G - intron_variant - 8/8
6-10723449-A-G TMEM14C c.-70A>G - 5_prime_UTR_variant 1/6 -
2-26429451-C-G HADHA c.1086-2386G>C - IntronicSNV - 11/19
11-47648042-G-A MTCH2 c.681+590C>T - IntronicSNV - 10/12
3-93681489-C-T PROS1 c.76+11029G>A - IntronicSNV - 1/14
3-183720313-T-A ABCC5 c.129+11739A>T - IntronicSNV - 2/29
12-121470256-G-T OASL c.482-836C>A - IntronicSNV - 2/5
12-121470256-G-A OASL c.482-836C>T - IntronicSNV - 2/5
16-74713054-A-G MLKL c.957-176T>C - IntronicSNV - 6/10
19-39336900-G-A HNRNPL c.1-183C>T - IntronicSNV - 1/12
5-81587566-A-G ATP6AP1L c.-856-3746A>G - intron_variant - 2/9
21-47896211-G-A DIP2A c.92-8459G>A - IntronicSNV - 1/37
22-41537589-A-G EP300 c.2053+363A>G - IntronicSNV - 10/30
17-6671032-A-G XAF1 c.508-2930A>G - IntronicSNV - 5/6
4-154678363-A-T RNF175 c.66+2586T>A - IntronicSNV - 1/8
4-154678363-A-C RNF175 c.66+2586T>G - IntronicSNV - 1/8
14-92371141-G-A FBLN5 c.380-9725C>T - IntronicSNV - 4/10
7-120671034-A-G CPED1 c.433+15132A>G - IntronicSNV - 3/22
1-235654845-T-C B3GALNT2 c.261-2272A>G - IntronicSNV - 2/11
10-13169066-G-A OPTN c.1243-679G>A - IntronicSNV - 10/13
17-38062217-C-T GSDMB c.844G>A p.Gly282Arg Missense 6/8 -
14-60615215-A-G DHRS7 c.972+856T>C - IntronicSNV - 6/6
7-148964513-A-G ZNF783 c.673+200A>G - IntronicSNV - 4/5
6-158584691-C-A SERAC1 c.-2+4481G>T - intron_variant - 1/16
9-79116108-C-A GCNT1 c.-144+131C>A - intron_variant - 2/2
12-123529056-A-G PITPNM2 c.1-9919T>C - IntronicSNV - 1/24
7-148964513-A-T ZNF783 c.673+200A>T - IntronicSNV - 4/5
16-66588770-C-T CKLF-CMTM1 c.78+2074C>T - IntronicSNV - 1/2
8-146065173-A-G ZNF7 c.248-1567A>G - IntronicSNV - 4/4
9-140084485-G-A SSNA1 c.*119G>A - 3-UTRSNV 3/3 -
9-140084485-G-T SSNA1 c.*119G>T - 3-UTRSNV 3/3 -
9-139289825-A-G SNAPC4 c.396T>C p.Asp132Asp Synonymous 4/23 -
19-54614590-A-G TFPT c.283-1086T>C - IntronicSNV - 2/5
15-72118777-G-C MYO9A c.*144C>G - 3-UTRSNV 42/42 -
21-44158405-C-A PDE9A c.388+4869C>A - IntronicSNV - 6/18
1-11896602-T-C CLCN6 c.1980+392T>C - IntronicSNV - 18/22
21-42742212-C-T MX2 c.1-6622C>T - IntronicSNV - 1/13
14-104023704-C-T BAG5 c.*2454G>A - 3-UTRSNV 2/2 -
11-117076564-A-G TAGLN c.*1489A>G - IntergenicSNV 5/5 -
19-58751393-G-T ZNF544 c.1-3997G>T - IntronicSNV - 3/6
10-16654584-G-A RSU1 c.732-19089C>T - IntronicSNV - 8/8
11-78284733-A-G NARS2 c.141+660T>C - IntronicSNV - 1/13
4-83760957-G-A SEC31A c.2851+2336C>T - IntronicSNV - 20/24
17-4390582-T-C SPNS3 c.1451-519T>C - IntronicSNV - 11/11
7-77351705-G-T RSBN1L c.587-14022G>T - IntronicSNV - 1/7
1-52334047-A-G NRDC c.341+9900T>C - IntronicSNV - 1/32
11-73021084-C-T ARHGEF17 c.1401C>T p.Ile467Ile Synonymous 1/21 -
2-86395273-T-C IMMT c.656-1506A>G - IntronicSNV - 6/14
5-34006203-G-A AMACR c.248-199C>T - IntronicSNV - 1/4
10-32615445-A-G EPC1 c.153+20246T>C - IntronicSNV - 1/13
10-18867838-C-T NSUN6 c.922+7040G>A - IntronicSNV - 8/10
12-10539815-G-C KLRC4-KLRK1 c.41-206C>G - IntronicSNV - 7/12
3-190346218-G-A IL1RAP c.903-921G>A - IntronicSNV - 7/10
17-4638010-T-G CXCL16 c.776-63A>C - IntronicSNV - 4/5
21-37419844-G-A SETD4 c.296+762C>T - IntronicSNV - 5/11
1-247320868-G-A ZNF124 c.219-349C>T - IntronicSNV - 3/3
7-75841589-C-T SRRM3 c.-40+10204C>T - intron_variant - 1/15
2-231035745-C-T SP110 c.1888-268G>A - IntronicSNV - 17/18
18-74723108-C-T MBP c.178-1226G>A - IntronicSNV - 1/6
8-133722669-C-T TMEM71 c.*544G>A - 3-UTRSNV 10/10 -
17-17727943-T-C SREBF1 c.92-4108A>G - IntronicSNV - 1/18
17-17727943-T-A SREBF1 c.92-4108A>T - IntronicSNV - 1/18
2-240948064-T-C NDUFA10 c.750-1277A>G - IntronicSNV - 6/9
4-90162268-C-A GPRIN3 c.*6663G>T - IntergenicSNV 2/2 -
16-88773893-C-T CTU2 c.143+275C>T - IntronicSNV - 2/13
16-88773893-C-G CTU2 c.143+275C>G - IntronicSNV - 2/13
6-36929007-T-C PI16 c.394-220T>C - IntronicSNV - 2/6
17-46050635-T-C CDK5RAP3 c.53-250T>C - IntronicSNV - 2/13
11-77334939-G-A CLNS1A c.472+1069C>T - IntronicSNV - 4/6
7-127521056-C-G SND1 c.1344-6899C>G - IntronicSNV - 12/23
11-57500134-A-G TMX2 c.190-4946A>G - IntronicSNV - 1/7
18-9851650-C-G RAB31 c.490+5962C>G - IntronicSNV - 6/6
8-123980697-T-G ZHX2 c.*5-4785T>G - intron_variant - 3/3
3-179115501-A-T GNB4 c.*3500T>A - 3-UTRSNV 10/10 -
2-175717783-C-T CHN1 c.550-6098G>A - IntronicSNV - 6/12
1-67366549-C-T WDR78 c.345+4335G>A - IntronicSNV - 2/16
17-26649724-A-C TMEM97 c.127-2805A>C - IntronicSNV - 1/2
12-125486797-G-C BRI3BP c.213+8248G>C - IntronicSNV - 1/2
17-56431453-A-G RNF43 c.*851T>C - 3-UTRSNV 10/10 -
11-252851-A-G PSMD13 c.*251A>G - 3-UTRSNV 13/13 -
13-115010330-G-T CDC16 c.768-35G>T - IntronicSNV - 8/18
11-61615803-C-T FADS2 c.744+47C>T - IntronicSNV - 5/11
7-29050667-T-C CPVL c.1321-15169A>G - IntronicSNV - 12/12
2-113940839-G-T PSD4 c.806G>T p.Gly269Val Missense 2/17 -
2-135699124-G-A CCNT2 c.431-1058G>A - IntronicSNV - 4/8
2-113940839-G-C PSD4 c.806G>C p.Gly269Ala Missense 2/17 -
1-27679692-A-G SYTL1 c.1308-82A>G - IntronicSNV - 13/14
5-131089267-G-C FNIP1 c.93-8884C>G - IntronicSNV - 1/17
12-105598672-G-A APPL2 c.622-1109C>T - IntronicSNV - 8/20
3-14520560-G-C SLC6A6 c.1459-33G>C - intron_variant - 12/14
1-236312878-C-T GPR137B c.414+6542C>T - IntronicSNV - 1/6
11-73611349-G-C PAAF1 c.416G>C p.Cys139Ser Missense 6/12 -
2-132443528-G-A C2orf27A c.-877-109G>A - intron_variant - 2/8
2-132443528-G-T C2orf27A c.-877-109G>T - intron_variant - 2/8
1-27176431-T-A ZDHHC18 c.647-361T>A - IntronicSNV - 3/7
22-42235352-C-T SREBF2 c.88+5990C>T - IntronicSNV - 1/18
20-62896110-C-T PCMTD2 c.410+226C>T - IntronicSNV - 3/5
7-21545690-G-A SP4 c.2108-4950G>A - IntronicSNV - 5/5
11-66402333-C-T RBM14-RBM4 c.338-8588C>T - IntronicSNV - 1/2
2-170527564-T-G CCDC173 c.662+3522A>C - IntronicSNV - 4/8
1-160314931-A-C NCSTN c.190+315A>C - IntronicSNV - 2/16
3-122471986-C-G HSPBAP1 c.742-465G>C - IntronicSNV - 5/7
6-148693135-C-T SASH1 c.157-18135C>T - IntronicSNV - 1/19
6-81040302-C-G BCKDHB c.1039-13079C>G - IntronicSNV - 9/10
5-36181627-A-G SKP2 c.1062-293A>G - IntronicSNV - 9/9
6-81040302-C-T BCKDHB c.1039-13079C>T - IntronicSNV - 9/10
3-172231986-A-G TNFSF10 c.270+665T>C - IntronicSNV - 2/2
2-36791226-T-C FEZ2 c.904-3218A>G - IntronicSNV - 5/8
1-212969128-A-G TATDN3 c.99+659A>G - IntronicSNV - 2/9
8-79612473-T-C ZC2HC1A c.704+1725T>C - IntronicSNV - 7/8
9-27546890-G-A C9orf72 c.*1344C>T - 3-UTRSNV 11/11 -
2-95812372-G-A ZNF514 c.*2655C>T - IntergenicSNV 5/5 -
1-100853755-G-T CDC14A c.217-2533G>T - IntronicSNV - 3/14
21-47724702-T-C C21orf58 c.722-2212A>G - IntronicSNV - 6/7
21-47724702-T-A C21orf58 c.722-2212A>T - IntronicSNV - 6/7
14-75498177-A-G MLH3 c.3755+594T>C - IntronicSNV - 7/11
14-75498177-A-C MLH3 c.3755+594T>G - IntronicSNV - 7/11
19-2756183-G-T SGTA c.*7-252C>A - intron_variant - 11/11
17-17178173-G-C COPS3 c.125+1176C>G - IntronicSNV - 2/11
9-117665187-A-G TNFSF8 c.*1024T>C - 3-UTRSNV 4/4 -
9-117665187-A-T TNFSF8 c.*1024T>A - 3-UTRSNV 4/4 -
22-39449503-G-T APOBEC3F c.*803G>T - 3-UTRSNV 7/7 -
3-15716462-C-T ANKRD28 c.2875+943G>A - IntronicSNV - 27/27
15-75681000-C-G SIN3A c.3021+993G>C - IntronicSNV - 16/20
16-75657063-A-T ADAT1 c.-84+73T>A - intron_variant - 1/10
11-65653309-T-C FIBP c.513-175A>G - IntronicSNV - 4/9
19-55708475-G-T PTPRH c.1456+10C>A - IntronicSNV - 7/17
4-1729425-C-G TACC3 c.306-10C>G - IntronicSNV - 3/15
8-145059425-T-C PARP10 c.745A>G p.Ile249Val Missense 5/11 -
10-3185237-A-G PITRM1 c.2648+344T>C - IntronicSNV - 23/26
14-105268228-G-A ZBTB42 c.694G>A p.Glu232Lys Missense 1/1 -
3-52501616-G-C NISCH c.361-3259G>C - IntronicSNV - 3/20
3-10168802-A-G BRK1 c.*823A>G - 3-UTRSNV 3/3 -
21-34824771-G-C TMEM50B c.432-1601C>G - IntronicSNV - 6/6
7-140400670-C-G NDUFB2 c.99-1996C>G - IntronicSNV - 1/3
3-12188658-G-A SYN2 c.684+1323G>A - intron_variant - 5/13
17-66428893-T-C WIPI1 c.800+716A>G - IntronicSNV - 8/12
19-2756183-G-C SGTA c.*7-252C>G - intron_variant - 11/11
9-115632898-G-A SNX30 c.*1775G>A - 3-UTRSNV 9/9 -
6-15247393-T-C JARID2 c.45+578T>C - IntronicSNV - 1/17
8-59492031-G-A SDCBP c.579-151G>A - IntronicSNV - 6/8
11-18416615-A-C LDHA c.-25+432A>C - intron_variant - 1/7
7-65796626-A-G TPST1 c.1045-20866A>G - IntronicSNV - 3/5
12-10231904-G-A CLEC1A c.391+1932C>T - IntronicSNV - 3/5
15-95024760-T-C MCTP2 c.*2497T>C - 3-UTRSNV 22/22 -
1-213037661-G-T FLVCR1 c.883+450G>T - IntronicSNV - 2/9
17-49291668-C-T MBTD1 c.486+3027G>A - IntronicSNV - 6/16
20-52096054-G-T TSHZ2 c.*9-7629G>T - intron_variant - 2/2
6-39283793-G-A KCNK16 c.802+285C>T - IntronicSNV - 5/5
2-224744701-A-T WDFY1 c.1173+140T>A - IntronicSNV - 11/11
3-139393482-T-G NMNAT3 c.-103+3065A>C - intron_variant - 1/4
16-89630212-T-A RPL13 c.*762T>A - 3-UTRSNV 6/6 -
7-29543534-C-T CHN2 c.914-826C>T - IntronicSNV - 9/12
1-173953144-G-C RC3H1 c.353-349C>G - IntronicSNV - 3/19
1-173953144-G-A RC3H1 c.353-349C>T - IntronicSNV - 3/19
1-3732782-T-C CEP104 c.2662+62A>G - IntronicSNV - 21/21
19-40907408-C-T PRX c.184+2205G>A - IntronicSNV - 5/5
12-113386950-T-C OAS3 c.1314T>C p.Ile438Ile Synonymous 6/16 -
18-9959493-A-T VAPA c.*5285A>T - 3-UTRSNV 7/7 -
15-60751776-G-T ICE2 c.529-2783C>A - IntronicSNV - 5/15
15-60751776-G-A ICE2 c.529-2783C>T - IntronicSNV - 5/15
13-52601053-T-C ALG11 c.1208-1402T>C - IntronicSNV - 3/3
19-55738181-G-C TMEM86B c.*368C>G - 3-UTRSNV 3/3 -
16-711905-A-G WDR90 c.3879A>G p.Pro1293Pro Synonymous 32/41 -
19-12950863-G-T MAST1 c.84-397G>T - IntronicSNV - 1/25
1-119583968-T-G WARS2 c.515+919A>C - IntronicSNV - 4/5
1-119583968-T-A WARS2 c.515+919A>T - IntronicSNV - 4/5
19-12950863-G-A MAST1 c.84-397G>A - IntronicSNV - 1/25
19-12950863-G-C MAST1 c.84-397G>C - IntronicSNV - 1/25
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 -
7-43664785-C-T STK17A c.*344C>T - 3-UTRSNV 7/7 -
21-38330620-G-T HLCS c.-258+3716C>A - intron_variant - 2/11
1-247601357-G-A NLRP3 c.2669+1915G>A - IntronicSNV - 6/8
1-145560476-G-A ANKRD35 c.745+217G>A - IntronicSNV - 8/13
5-169807104-G-A KCNMB1 c.307-1127C>T - IntronicSNV - 3/3
16-115072-A-C RHBDF1 c.1-59T>G - IntronicSNV - 1/17
6-32609427-T-C HLA-DQA1 c.331+92T>C - IntronicSNV - 2/4
11-73373552-G-A PLEKHB1 c.*905G>A - 3-UTRSNV 7/7 -
2-149925901-G-C LYPD6B c.-67+30586G>C - intron_variant - 1/6
12-13133333-C-G HEBP1 c.399-4920G>C - IntronicSNV - 3/3
12-13133333-C-T HEBP1 c.399-4920G>A - IntronicSNV - 3/3
1-153617773-C-G CHTOP c.*28C>G - 3-UTRSNV 6/6 -
17-9815411-A-G GAS7 c.*5134T>C - 3-UTRSNV 10/10 -
22-45567580-C-A NUP50 c.153+16C>A - IntronicSNV - 3/7
19-18123965-C-T ARRDC2 c.*190C>T - 3-UTRSNV 8/8 -
19-18285751-G-A IFI30 c.133-99G>A - IntronicSNV - 1/6
19-18285751-G-C IFI30 c.133-99G>C - IntronicSNV - 1/6
18-46602964-T-C DYM c.1860+20808A>G - IntronicSNV - 16/16
6-130175138-T-C TMEM244 c.33+7163A>G - IntronicSNV - 1/4
20-43851094-G-A SEMG2 c.821G>A p.Ser274Asn Missense 2/3 -
18-693285-A-T ENOSF1 c.423+597T>A - IntronicSNV - 5/15
13-33328625-C-A PDS5B c.2941+951C>A - IntronicSNV - 25/34
10-16556710-T-C C1QL3 c.589-4A>G - IntronicSNV - 1/1
19-6909449-G-T ADGRE1 c.966+666G>T - IntronicSNV - 9/19
19-6909449-G-C ADGRE1 c.966+666G>C - IntronicSNV - 9/19
21-47961711-G-A DIP2A c.2079G>A p.Leu693Leu Synonymous 18/38 -
17-58007193-G-A RPS6KB1 c.530-285G>A - IntronicSNV - 5/14
6-71426558-G-A SMAP1 c.119-15523G>A - IntronicSNV - 1/10
19-885818-A-G MED16 c.831T>C p.Phe277Phe Synonymous 5/16 -
17-47743061-T-A SPOP c.-67+10196A>T - intron_variant - 2/10
20-33952620-G-A UQCC1 c.464+1740C>T - IntronicSNV - 6/9
14-104028270-T-A BAG5 c.-29+683A>T - intron_variant - 1/1
14-104028270-T-C BAG5 c.-29+683A>G - intron_variant - 1/1
3-119198873-G-A POGLUT1 c.457-25G>A - IntronicSNV - 4/10
5-6618186-T-C NSUN2 c.816-49A>G - IntronicSNV - 7/18
20-49520193-C-G ADNP c.108+233G>C - IntronicSNV - 2/3
4-15717321-G-A BST1 c.612-9G>A - IntronicSNV - 5/8
5-64977299-A-G SGTB c.480-678T>C - IntronicSNV - 6/10
5-64977299-A-T SGTB c.480-678T>A - IntronicSNV - 6/10
11-63927810-A-G MACROD1 c.298+5359T>C - IntronicSNV - 1/10
15-76550973-C-T ETFA c.816+15780G>A - IntronicSNV - 9/11
1-227940738-C-T SNAP47 c.632+4804C>T - IntronicSNV - 2/4
7-2083782-A-G MAD1L1 c.1218+25047T>C - IntronicSNV - 12/18
20-61540319-T-C DIDO1 c.1161+732A>G - IntronicSNV - 4/5
12-9880114-A-G CLECL1 c.317-4705T>C - IntronicSNV - 1/1
22-20761899-C-T ZNF74 c.*641C>T - 3-UTRSNV 5/5 -
11-86348697-G-A ME3 c.183+34107C>T - IntronicSNV - 1/13
11-61615803-C-G FADS2 c.744+47C>G - IntronicSNV - 5/11
10-72176774-A-G EIF4EBP2 c.146-2896A>G - IntronicSNV - 1/2
1-19973920-A-G NBL1 c.-20+2980A>G - intron_variant - 1/3
22-25464310-A-G KIAA1671 c.4530+18979A>G - IntronicSNV - 4/10
2-224744701-A-G WDFY1 c.1173+140T>C - IntronicSNV - 11/11
13-28177866-T-C LNX2 c.-101+16646A>G - intron_variant - 1/9
3-14712473-G-A CCDC174 c.1176G>A p.Pro392Pro Synonymous 11/11 -
17-25951644-C-G KSR1 c.*2683C>G - IntergenicSNV 22/22 -
1-65939158-A-G LEPR c.-21+48097A>G - intron_variant - 2/19
5-75707153-C-T IQGAP2 c.46+7737C>T - IntronicSNV - 1/35
12-51735022-A-T CELA1 c.463+6T>A - IntronicSNV - 5/7
12-51735022-A-C CELA1 c.463+6T>G - IntronicSNV - 5/7
3-146257602-G-A PLSCR1 c.1-3263C>T - IntronicSNV - 1/8
16-77238044-G-A SYCE1L c.62-2294G>A - IntronicSNV - 1/10
14-35067542-T-A SNX6 c.169-691A>T - IntronicSNV - 5/12
21-34824771-G-A TMEM50B c.432-1601C>T - IntronicSNV - 6/6
19-2106696-T-C AP3D1 c.3552+1990A>G - IntronicSNV - 31/31
15-75107880-A-T LMAN1L c.176-618A>T - IntronicSNV - 1/13
3-140956248-G-A PXYLP1 c.-54+2450G>A - intron_variant - 3/7
19-39334811-T-G HNRNPL c.312-67A>C - IntronicSNV - 4/12
20-61540319-T-G DIDO1 c.1161+732A>C - IntronicSNV - 4/5
4-103767339-T-G UBE2D3 c.30+22533A>C - IntronicSNV - 1/6
12-10012967-G-T CLEC2B c.73+2131C>A - IntronicSNV - 2/4
20-54941087-C-T FAM210B c.363-40C>T - IntronicSNV - 2/2
18-61006292-G-A KDSR c.694-176C>T - IntronicSNV - 7/9
15-80172385-A-C ST20-MTHFS c.307+9050T>G - IntronicSNV - 3/3
17-73794047-T-G UNK c.105-11794T>G - IntronicSNV - 1/15
21-48069930-T-C PRMT2 c.654+279T>C - IntronicSNV - 6/10
20-2286343-C-T TGM3 c.8-3960C>T - IntronicSNV - 1/12
3-151041513-A-G MED12L c.2146-26334A>G - IntronicSNV - 14/42
1-157666644-T-C FCRL3 c.844+286A>G - IntronicSNV - 6/14
20-2286343-C-A TGM3 c.8-3960C>A - IntronicSNV - 1/12
16-3634746-C-A SLX4 c.4739+24G>T - IntronicSNV - 13/14
1-85036784-C-T CTBS c.178-381G>A - IntronicSNV - 1/6
6-137111664-G-C MAP3K5 c.448+1184C>G - IntronicSNV - 1/29
18-11893317-C-T MPPE1 c.390+150G>A - IntronicSNV - 4/10
1-15273952-T-A KAZN c.-57+1283T>A - intron_variant - 1/7
7-12441838-T-C VWDE c.58+1447A>G - IntronicSNV - 1/28
16-352736-G-A AXIN1 c.1254+1568C>T - IntronicSNV - 5/10
21-47694357-T-A MCM3AP c.1998+743A>T - IntronicSNV - 6/27
21-47694357-T-C MCM3AP c.1998+743A>G - IntronicSNV - 6/27
12-25242595-C-G LRMP c.421C>G p.Leu141Val Missense 11/21 -
7-100406144-A-G EPHB4 c.2119-942T>C - IntronicSNV - 12/16
3-118909538-G-A UPK1B c.346-291G>A - IntronicSNV - 4/7
3-118909538-G-T UPK1B c.346-291G>T - IntronicSNV - 4/7
6-13202215-T-C PHACTR1 c.665-3832T>C - IntronicSNV - 7/14
19-55832884-G-A TMEM150B c.1-480C>T - IntronicSNV - 2/7
12-14975721-C-T C12orf60 c.1-149C>T - IntronicSNV - 1/1
2-73330514-A-G RAB11FIP5 c.431+8961T>C - IntronicSNV - 1/4
22-18172236-C-G BCL2L13 c.386+328C>G - IntronicSNV - 4/6
3-52818579-G-A ITIH1 c.1407+86G>A - IntronicSNV - 11/21
7-99747130-G-A LAMTOR4 c.12G>A p.Ala4Ala Synonymous 2/4 -
16-4725450-T-G MGRN1 c.955+1792T>G - IntronicSNV - 10/15
17-3818830-A-G P2RX1 c.137+553T>C - IntronicSNV - 1/11
16-4725450-T-C MGRN1 c.955+1792T>C - IntronicSNV - 10/15
20-8409376-C-T PLCB1 c.246+57279C>T - IntronicSNV - 3/31
20-8409376-C-G PLCB1 c.246+57279C>G - IntronicSNV - 3/31
1-16053493-G-A PLEKHM2 c.942-16G>A - IntronicSNV - 8/19
17-1429687-T-A PITPNA c.769-4748A>T - IntronicSNV - 10/11
16-2945248-G-T FLYWCH2 c.-172G>T - 5_prime_UTR_variant 2/4 -
15-78447790-C-G IDH3A c.90+173C>G - IntronicSNV - 2/10
16-72137561-G-A DHX38 c.1698G>A p.Thr566Thr Synonymous 13/27 -
17-48916052-C-T WFIKKN2 c.211-808C>T - IntronicSNV - 1/1
17-37833600-G-A PGAP3 c.433-2668C>T - IntronicSNV - 3/7
15-75145098-T-C SCAMP2 c.226-571A>G - IntronicSNV - 3/8
11-61604814-C-A FADS2 c.208-436C>A - IntronicSNV - 1/11
3-170585617-A-G RPL22L1 c.224+185T>C - IntronicSNV - 3/3
12-106781273-A-G POLR3B c.724-5536A>G - IntronicSNV - 9/27
16-630902-C-G PIGQ c.1461C>G p.Leu487Leu Synonymous 9/11 -
18-28742058-A-T DSC1 c.63+437T>A - IntronicSNV - 1/16
7-1036851-G-C C7orf50 c.*410C>G - 3-UTRSNV 5/5 -
19-48649179-A-G LIG1 c.777-1959T>C - IntronicSNV - 9/27
4-76857309-C-T NAAA c.451G>A p.Val151Ile Missense 3/9 -
10-102750851-G-A TWNK c.1734+84G>A - IntronicSNV - 4/4
16-23864590-T-C PRKCB c.205+15863T>C - IntronicSNV - 2/16
11-107924104-A-G CUL5 c.553+576A>G - IntronicSNV - 5/18
1-24716889-A-G STPG1 c.49-6396T>C - IntronicSNV - 2/7
16-2945248-G-C FLYWCH2 c.-172G>C - 5_prime_UTR_variant 2/4 -
3-52295895-C-T WDR82 c.327-400G>A - IntronicSNV - 3/8
16-72137561-G-C DHX38 c.1698G>C p.Thr566Thr Synonymous 13/27 -
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
17-48916052-C-A WFIKKN2 c.211-808C>A - IntronicSNV - 1/1
17-48916052-C-G WFIKKN2 c.211-808C>G - IntronicSNV - 1/1
12-123447928-T-C ABCB9 c.-88+2906A>G - intron_variant - 1/10
3-98503776-A-G ST3GAL6 c.336-13A>G - IntronicSNV - 6/10
1-114394463-C-T PTPN22 c.828+186G>A - IntronicSNV - 10/20
10-97550740-G-A ENTPD1 c.17-32254G>A - IntronicSNV - 1/9
7-129725297-G-A KLHDC10 c.167-11464G>A - IntronicSNV - 1/9
7-129725297-G-C KLHDC10 c.167-11464G>C - IntronicSNV - 1/9
1-203098818-A-G ADORA1 c.341+508A>G - IntronicSNV - 3/3
11-118886117-C-T CCDC84 c.906C>T p.Arg302Arg Synonymous 10/11 -
16-1369730-A-G UBE2I c.224-445A>G - IntronicSNV - 4/6
7-1036851-G-A C7orf50 c.*410C>T - 3-UTRSNV 5/5 -
16-5020783-A-T SEC14L5 c.63+11396A>T - IntronicSNV - 2/15
1-227173477-G-C COQ8A c.1659+436G>C - IntronicSNV - 14/14
8-134557356-G-A ST3GAL1 c.-632+661C>T - intron_variant - 2/8
14-67662730-T-C FAM71D c.1-2149T>C - IntronicSNV - 1/8
18-9851650-C-T RAB31 c.490+5962C>T - IntronicSNV - 6/6
11-14505962-G-A COPB1 c.838-1265C>T - IntronicSNV - 7/21
3-99774720-T-G CMSS1 c.65-91097T>G - IntronicSNV - 1/9
12-77190363-G-T ZDHHC17 c.94-851G>T - IntronicSNV - 1/16
11-9759713-T-G SWAP70 c.1081-47T>G - IntronicSNV - 7/11
3-58184851-A-G DNASE1L3 c.547-1146T>C - IntronicSNV - 5/7
3-50824229-C-G DOCK3 c.121+8040C>G - IntronicSNV - 2/52
11-14491601-T-A COPB1 c.1738-492A>T - IntronicSNV - 14/21
1-111682307-G-T DRAM2 c.-79+353C>A - intron_variant - 1/8
5-149442474-G-A CSF1R c.1627-1062C>T - IntronicSNV - 11/21
22-35728466-T-C TOM1 c.900-508T>C - IntronicSNV - 8/14
22-39132748-G-A SUN2 c.2104-363C>T - IntronicSNV - 17/17
1-53696051-C-G MAGOH c.259-1425G>C - IntronicSNV - 3/4
13-37623269-C-A SUPT20H c.4-533G>T - IntronicSNV - 2/24
13-37623269-C-T SUPT20H c.4-533G>A - IntronicSNV - 2/24
7-102065055-G-A PRKRIP1 c.458-406G>A - IntronicSNV - 5/5
12-108725147-A-C CMKLR1 c.-286-1163T>G - intron_variant - 1/3
12-113350796-G-T OAS1 c.654+1756G>T - IntronicSNV - 3/5
5-154200263-G-A FAXDC2 c.846-231C>T - IntronicSNV - 8/8
1-39466626-A-G AKIRIN1 c.362-18A>G - IntronicSNV - 2/4
17-6519166-A-G KIAA0753 c.1316-3698T>C - IntronicSNV - 7/18
2-65305499-C-T CEP68 c.2104+401C>T - IntronicSNV - 5/6
3-49829653-A-G CDHR4 c.2138+248T>C - IntronicSNV - 15/18
14-74962233-G-A ISCA2 c.*530G>A - 3-UTRSNV 4/4 -
1-90047130-G-C LRRC8B c.1-1080G>C - IntronicSNV - 3/8
12-133115405-T-C FBRSL1 c.616-9184T>C - IntronicSNV - 4/16
12-6614156-T-C NCAPD2 c.128-4727T>C - IntronicSNV - 2/31
11-64135298-A-C RPS6KA4 c.1072-306A>C - IntronicSNV - 9/16
21-42796480-C-T MX1 c.-309+1642C>T - intron_variant - 3/18
2-103349807-A-T MFSD9 c.166-939T>A - IntronicSNV - 1/5
21-30537045-C-T MAP3K7CL c.548+4668C>T - IntronicSNV - 9/9
1-153727632-T-C INTS3 c.957+417T>C - IntronicSNV - 9/29
19-38821474-T-C KCNK6 c.*3431T>C - IntergenicSNV 3/3 -
6-72017853-T-C OGFRL1 c.*6101T>C - IntergenicSNV 7/7 -
8-123966495-A-G ZHX2 c.*231A>G - IntronicSNV 4/4 -
4-4238062-G-C TMEM128 c.*10-79C>G - intron_variant - 4/4
10-119765851-T-C RAB11FIP2 c.*2658A>G - 3-UTRSNV 5/5 -
9-129184309-G-C MVB12B c.757+82G>C - IntronicSNV - 7/9
2-37438993-G-A CEBPZ c.2793C>T p.Ser931Ser Synonymous 12/16 -
14-53150374-T-C ERO1A c.234+132A>G - IntronicSNV - 2/15
2-65305499-C-G CEP68 c.2104+401C>G - IntronicSNV - 5/6
18-34393672-C-G TPGS2 c.165+5185G>C - IntronicSNV - 2/6
16-88712319-T-G CYBA c.369+205A>C - IntronicSNV - 5/5
16-88712319-T-C CYBA c.369+205A>G - IntronicSNV - 5/5
8-61484788-C-A RAB2A c.114+116C>A - IntronicSNV - 2/6
8-61484788-C-G RAB2A c.114+116C>G - IntronicSNV - 2/6
1-160827379-G-A CD244 c.61+5028C>T - IntronicSNV - 1/8
9-136909261-C-G BRD3 c.1215+1154G>C - IntronicSNV - 7/11
9-136909261-C-A BRD3 c.1215+1154G>T - IntronicSNV - 7/11
16-88928290-A-C TRAPPC2L c.*923A>C - IntergenicSNV 5/5 -
16-28490517-T-C CLN3 c.1057-1319A>G - IntronicSNV - 13/14
10-127531514-A-G BCCIP c.850+1615A>G - IntronicSNV - 7/7
1-3575833-C-G TP73 c.-34+6628C>G - intron_variant - 1/13
1-3575833-C-T TP73 c.-34+6628C>T - intron_variant - 1/13
2-103349807-A-G MFSD9 c.166-939T>C - IntronicSNV - 1/5
15-64205358-G-A DAPK2 c.859-962C>T - IntronicSNV - 9/11
7-77529884-T-C PHTF2 c.103-144T>C - IntronicSNV - 2/16
15-52850352-T-A ARPP19 c.46-933A>T - IntronicSNV - 1/2
3-62270556-G-A PTPRG c.4055+2012G>A - IntronicSNV - 28/29
12-123323135-C-G HIP1R c.93+2945C>G - IntronicSNV - 1/31
11-118100411-G-C MPZL3 c.*198C>G - 3-UTRSNV 6/6 -
12-123323135-C-T HIP1R c.93+2945C>T - IntronicSNV - 1/31
6-122800982-G-T PKIB c.-368+1898G>T - intron_variant - 2/7
7-99747378-G-T LAMTOR4 c.84+176G>T - IntronicSNV - 2/3
20-57572839-G-T CTSZ c.488-31C>A - IntronicSNV - 3/5
10-3190797-T-C PITRM1 c.1872-314A>G - IntronicSNV - 16/26
16-2237549-C-T CASKIN1 c.618-87G>A - IntronicSNV - 6/19
16-2237549-C-A CASKIN1 c.618-87G>T - IntronicSNV - 6/19
4-8234381-T-C SH3TC1 c.3131+498T>C - IntronicSNV - 13/17
6-76399539-G-T SENP6 c.2076-5981G>T - IntronicSNV - 16/23
17-7016239-C-A ASGR2 c.67+1254G>T - IntronicSNV - 1/7
22-42100275-A-G MEI1 c.298+817A>G - IntronicSNV - 2/30
2-242646350-A-T ING5 c.109+2211A>T - IntronicSNV - 2/7
2-242646350-A-G ING5 c.109+2211A>G - IntronicSNV - 2/7
8-144683934-C-T TIGD5 c.*1932C>T - IntergenicSNV 1/1 -
20-62291008-A-G RTEL1 c.102+151A>G - IntronicSNV - 2/34
17-16996501-A-G MPRIP c.267+15111A>G - IntronicSNV - 3/22
12-10554074-A-G KLRC4-KLRK1 c.-181+6161T>C - intron_variant - 4/12
14-74365295-A-G ZNF410 c.580+330A>G - IntronicSNV - 5/11
7-45103771-C-T CCM2 c.288+171C>T - IntronicSNV - 3/9
9-88890033-C-T ISCA1 c.82-876G>A - IntronicSNV - 1/3
6-159076766-G-A SYTL3 c.-229+3892G>A - intron_variant - 2/16
18-5452310-G-A EPB41L3 c.382-7067C>T - IntronicSNV - 3/22
5-88041932-C-G MEF2C c.637+2955G>C - IntronicSNV - 6/10
11-65087533-A-G CDC42EP2 c.1-837A>G - IntronicSNV - 1/1
1-112042195-T-C ADORA3 c.*377A>G - 3-UTRSNV 2/2 -
17-73374945-G-A GRB2 c.78+14687C>T - IntronicSNV - 2/5
1-25889422-C-A LDLRAP1 c.533-139C>A - IntronicSNV - 5/8
9-71122983-T-A PGM5 c.1614+8706T>A - IntronicSNV - 10/10
9-71122983-T-G PGM5 c.1614+8706T>G - IntronicSNV - 10/10
12-8190217-C-T FOXJ2 c.1-2212C>T - IntronicSNV - 1/10
18-47016787-C-T RPL17 c.315+37G>A - IntronicSNV - 5/6
14-105717796-G-C BRF1 c.544+1048C>G - IntronicSNV - 5/17
5-114549087-T-C PGGT1B c.953-807A>G - IntronicSNV - 8/8
1-120263018-T-C PHGDH c.139-775T>C - IntronicSNV - 1/11
8-144664319-C-G EEF1D c.1288-821G>C - IntronicSNV - 5/9
19-55913678-C-A UBE2S c.343-548G>T - IntronicSNV - 3/3
22-42981167-G-A POLDIP3 c.*630C>T - 3-UTRSNV 9/9 -
5-39381357-C-T DAB2 c.1504+199G>A - IntronicSNV - 11/14
15-63429086-A-C LACTB c.1119-4393A>C - IntronicSNV - 5/5
3-20215250-A-C SGO1 c.476-2526T>G - IntronicSNV - 5/7
4-107110278-T-C TBCK c.1870+4488A>G - IntronicSNV - 20/23
12-6164455-C-G VWF c.1945+1568G>C - IntronicSNV - 15/51
16-4110193-C-T ADCY9 c.1694-52634G>A - IntronicSNV - 2/10
12-123656809-G-A MPHOSPH9 c.2456+4426C>T - IntronicSNV - 16/23
9-136909261-C-T BRD3 c.1215+1154G>A - IntronicSNV - 7/11
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
7-27672895-T-C HIBADH c.253-831A>G - IntronicSNV - 2/7
1-206647787-T-C IKBKE c.-55T>C - 5_prime_UTR_variant 3/21 -
17-903819-G-A TIMM22 c.509-433G>A - IntronicSNV - 3/3
1-220925241-C-G MARC2 c.273-3048C>G - IntronicSNV - 1/7
17-3519954-G-T SHPK c.824-1123C>A - IntronicSNV - 5/6
18-48458662-G-A ME2 c.1349G>A p.Gly450Glu Missense 13/16 -
22-23646953-T-A BCR c.3013-4658T>A - IntronicSNV - 16/22
7-21485278-A-G SP4 c.1678+14817A>G - IntronicSNV - 3/5
7-38767914-T-C VPS41 c.2404+228A>G - IntronicSNV - 27/28
7-130042980-G-A CEP41 c.423-340C>T - IntronicSNV - 6/10
2-70153848-T-C MXD1 c.203+4951T>C - IntronicSNV - 3/5
6-123031388-G-A PKIB c.1-7552G>A - IntronicSNV - 6/7
22-18172236-C-T BCL2L13 c.386+328C>T - IntronicSNV - 4/6
15-42860591-G-T HAUS2 c.*1577G>T - 3-UTRSNV 6/6 -
1-212929061-A-G NSL1 c.500-16118T>C - IntronicSNV - 4/5
8-38110215-T-A DDHD2 c.1618-25T>A - IntronicSNV - 13/17
12-31595064-T-C DENND5B c.2012+645A>G - IntronicSNV - 7/20
5-75707153-C-G IQGAP2 c.46+7737C>G - IntronicSNV - 1/35
15-81007264-A-G ABHD17C c.590+18904A>G - IntronicSNV - 1/2
19-50485758-T-G VRK3 c.1218-1488A>C - IntronicSNV - 12/14
8-38110215-T-G DDHD2 c.1618-25T>G - IntronicSNV - 13/17
17-15412038-G-A TVP23C-CDRT4 c.462+37061C>T - IntronicSNV - 5/6
16-2824930-C-G ELOB c.244+522G>C - IntronicSNV - 3/3
6-5132544-C-T LYRM4 c.208-22819G>A - IntronicSNV - 2/2
1-150729793-G-A CTSS c.249+541C>T - IntronicSNV - 3/7
17-73959857-A-G ACOX1 c.156-3401T>C - IntronicSNV - 2/13
1-68603586-C-T WLS c.1393G>A p.Val465Ile Missense 11/12 -
1-45665580-G-A ZSWIM5 c.595+5848C>T - IntronicSNV - 1/13
14-23278003-G-A SLC7A7 c.499+4106C>T - IntronicSNV - 3/10
11-244552-A-G PSMD13 c.309+83A>G - IntronicSNV - 5/12
8-141461062-G-A TRAPPC9 c.705C>T p.Asn235Asn Synonymous 2/23 -
6-43193877-G-A DNPH1 c.270C>T p.Val90Val Synonymous 3/4 -
20-62717930-C-T OPRL1 c.-184-5389C>T - intron_variant - 1/4
6-150075273-T-C PCMT1 c.229+4181T>C - IntronicSNV - 1/7
13-21048569-G-A CRYL1 c.276+14940C>T - IntronicSNV - 3/7
6-32606756-G-A HLA-DQA1 c.82+1439G>A - IntronicSNV - 1/4
11-66399681-G-A RBM14-RBM4 c.338-11240G>A - IntronicSNV - 1/2
19-17395055-C-A ANKLE1 c.1356C>A - synonymous_variant 6/9 -
10-100218732-A-G HPSE2 c.*599T>C - 3-UTRSNV 12/12 -
20-48260203-G-A B4GALT5 c.365-16C>T - IntronicSNV - 3/8
1-205111761-A-C DSTYK c.*4925T>G - 3-UTRSNV 13/13 -
19-3099029-A-T GNA11 c.136+4244A>T - IntronicSNV - 1/6
19-3099029-A-G GNA11 c.136+4244A>G - IntronicSNV - 1/6
10-15303527-T-C FAM171A1 c.419-6649A>G - IntronicSNV - 3/7
1-3744261-C-A CEP104 c.2152-953G>T - IntronicSNV - 15/21
15-40654038-A-T DISP2 c.120-1788A>T - IntronicSNV - 1/7
1-156314627-A-G TSACC c.163+128A>G - IntronicSNV - 3/3
20-1610939-G-A SIRPG c.1095C>T p.Ser365Ser Synonymous 5/6 -
11-124746770-T-C ROBO3 c.2780-287T>C - IntronicSNV - 17/27
8-8648737-C-T MFHAS1 c.3126-5172G>A - IntronicSNV - 2/2
11-838110-C-T CD151 c.703-23C>T - IntronicSNV - 8/8
21-40761545-T-G WRB c.1-1079T>G - IntronicSNV - 1/4
15-91428955-C-T FES c.387+140C>T - IntronicSNV - 3/18
12-95473158-C-T FGD6 c.*2138G>A - 3-UTRSNV 21/21 -
1-169572645-C-T SELP c.1520-196G>A - IntronicSNV - 9/16
20-5174600-G-A CDS2 c.*3720G>A - 3-UTRSNV 13/13 -
17-25964779-C-A LGALS9 c.40-510C>A - IntronicSNV - 1/10
1-10421878-A-G KIF1B c.4161A>G p.Pro1387Pro Synonymous 38/47 -
14-23033838-G-A DAD1 c.*244C>T - 3_prime_UTR_variant 3/3 -
16-87788864-G-A KLHDC4 c.305C>T p.Thr102Ile Missense 4/12 -
2-231954091-A-G PSMD1 c.1883+2196A>G - IntronicSNV - 16/23
6-26107790-G-T HIST1H1T c.532C>A p.Gln178Lys Missense 1/1 -
12-120146925-G-A CIT c.4946-802C>T - IntronicSNV - 38/46
19-5928185-T-C RANBP3 c.694-87A>G - IntronicSNV - 8/16
10-3821561-G-A KLF6 c.*170C>T - 3-UTRSNV 4/4 -
10-3821561-G-C KLF6 c.*170C>G - 3-UTRSNV 4/4 -
16-68343969-T-C SLC7A6OS c.471+269A>G - IntronicSNV - 2/4
15-40654038-A-G DISP2 c.120-1788A>G - IntronicSNV - 1/7
8-8648737-C-G MFHAS1 c.3126-5172G>C - IntronicSNV - 2/2
11-838110-C-G CD151 c.703-23C>G - IntronicSNV - 8/8
10-97605057-C-G ENTPD1 c.574-57C>G - IntronicSNV - 5/9
12-95473158-C-G FGD6 c.*2138G>C - 3-UTRSNV 21/21 -
2-127414661-C-T GYPC c.49+773C>T - IntronicSNV - 1/3
22-50679758-A-G TUBGCP6 c.742-962T>C - IntronicSNV - 1/24
22-50679758-A-C TUBGCP6 c.742-962T>G - IntronicSNV - 1/24
17-41231902-G-A BRCA1 c.4357+2519C>T - IntronicSNV - 12/22
20-43997646-C-A SYS1 c.*1891C>A - 3-UTRSNV 4/4 -
15-76964152-G-A SCAPER c.2509-6022C>T - IntronicSNV - 20/31
12-125486797-G-T BRI3BP c.213+8248G>T - IntronicSNV - 1/2
3-42595115-C-T SEC22C c.711+2307G>A - IntronicSNV - 6/6
3-42595115-C-A SEC22C c.711+2307G>T - IntronicSNV - 6/6
19-46027752-C-T VASP c.957-76C>T - IntronicSNV - 10/12
20-56942312-C-T RAB22A c.*7553C>T - 3-UTRSNV 7/7 -
19-46027752-C-G VASP c.957-76C>G - IntronicSNV - 10/12
9-139924637-T-C FUT7 c.*525A>G - 3-UTRSNV 2/2 -
22-39747780-G-T SYNGR1 c.99+1666G>T - IntronicSNV - 1/3
22-39747780-G-A SYNGR1 c.99+1666G>A - IntronicSNV - 1/3
17-34848874-T-C ZNHIT3 c.205+131T>C - IntronicSNV - 3/4
10-104467609-G-C ARL3 c.4-2363C>G - IntronicSNV - 1/5
2-170817399-G-A UBR3 c.3634+2363G>A - IntronicSNV - 24/38
15-65255704-C-G SPG21 c.*257G>C - 3-UTRSNV 9/9 -
5-127468177-T-A SLC12A2 c.1188+1279T>A - IntronicSNV - 5/26
22-41606030-A-T L3MBTL2 c.262+93A>T - IntronicSNV - 2/16
3-50004209-G-A RBM6 c.45-694G>A - IntronicSNV - 2/20
7-130003458-A-G CPA5 c.838+108A>G - IntronicSNV - 11/13
11-44093323-C-G ACCS c.348+458C>G - IntronicSNV - 3/14
17-12895984-G-C ELAC2 c.*151C>G - 3-UTRSNV 23/23 -
17-38129097-C-G GSDMA c.730+231C>G - IntronicSNV - 7/11
22-44341398-C-T PNPLA3 c.1218-636C>T - IntronicSNV - 8/8
3-10134320-C-G FANCD2 c.3849+384C>G - IntronicSNV - 38/43
17-8078765-T-A TMEM107 c.274+310A>T - IntronicSNV - 3/4
9-71122983-T-C PGM5 c.1614+8706T>C - IntronicSNV - 10/10
10-105645725-A-G STN1 c.949+3105T>C - IntronicSNV - 9/9
4-129823442-G-T SCLT1 c.1830-11150C>A - IntronicSNV - 18/20
7-73246555-C-G CLDN4 c.*394C>G - 3-UTRSNV 1/1 -
10-135224372-G-C MTG1 c.752+8095G>C - IntronicSNV - 9/10
8-1937998-T-G KBTBD11 c.1-11361T>G - IntronicSNV - 1/1
8-1937998-T-A KBTBD11 c.1-11361T>A - IntronicSNV - 1/1
8-1937998-T-C KBTBD11 c.1-11361T>C - IntronicSNV - 1/1
1-246829616-T-A CNST c.*409T>A - 3-UTRSNV 11/11 -
10-124193181-T-G PLEKHA1 c.*3727T>G - IntergenicSNV 12/12 -
3-49291883-C-T CCDC36 c.533-940C>T - IntronicSNV - 8/9
7-38764855-G-A VPS41 c.*991C>T - 3-UTRSNV 29/29 -
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
21-37419844-G-C SETD4 c.296+762C>G - IntronicSNV - 5/11
6-149156611-C-T UST c.248-51511C>T - IntronicSNV - 1/7
3-49829653-A-C CDHR4 c.2138+248T>G - IntronicSNV - 15/18
9-132568500-C-T TOR1B c.466-967C>T - IntronicSNV - 2/4
19-16600823-T-C CALR3 c.397+355A>G - IntronicSNV - 3/8
11-129692580-G-A TMEM45B c.-9+6787G>A - intron_variant - 1/5
9-115234394-G-C HSDL2 c.*1570G>C - 3-UTRSNV 11/11 -
17-5347576-G-A DHX33 c.2073C>T p.Tyr691Tyr Synonymous 12/12 -
3-52965255-C-T SFMBT1 c.701-204G>A - IntronicSNV - 6/20
3-12533148-G-T TSEN2 c.190-487G>T - IntronicSNV - 2/11
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
19-538487-G-A CDC34 c.497+1340G>A - IntronicSNV - 4/4
1-40219065-C-G PPIE c.*38C>G - 3-UTRSNV 10/10 -
17-38029120-C-G ZPBP2 c.560-177C>G - IntronicSNV - 4/6
6-41199102-G-A TREML4 c.506+1242G>A - IntronicSNV - 4/5
6-41199102-G-T TREML4 c.506+1242G>T - IntronicSNV - 4/5
1-949608-G-C ISG15 c.248G>C p.Ser83Thr Missense 2/2 -
1-949608-G-A ISG15 c.248G>A p.Ser83Asn Missense 2/2 -
6-34255631-C-A RPS10-NUDT3 c.*899G>T - 3-UTRSNV 9/9 -
17-33332629-G-A LIG3 c.*1104G>A - IntergenicSNV 20/20 -
5-138249940-C-A CTNNA1 c.1390-3491C>A - IntronicSNV - 10/17
9-131884802-C-T PTPA c.130-529C>T - IntronicSNV - 3/10
20-60964064-A-G CABLES2 c.*1963T>C - 3-UTRSNV 10/10 -
16-766485-G-A METRN c.506-448G>A - IntronicSNV - 2/3
11-14491601-T-C COPB1 c.1738-492A>G - IntronicSNV - 14/21
1-44438974-C-G DPH2 c.*763C>G - 3-UTRSNV 6/6 -
8-74907813-G-T LY96 c.112+4024G>T - IntronicSNV - 1/4
1-182549336-A-C RNASEL c.1905+1024T>G - IntronicSNV - 5/6
1-182549336-A-G RNASEL c.1905+1024T>C - IntronicSNV - 5/6
8-74907813-G-A LY96 c.112+4024G>A - IntronicSNV - 1/4
14-64712626-T-C ESR2 c.1225+3638A>G - IntronicSNV - 7/8
7-140065886-C-A SLC37A3 c.292-1595G>T - IntronicSNV - 4/11
11-47001908-C-G C11orf49 c.47-6851C>G - IntronicSNV - 1/8
1-12053264-T-C MFN2 c.311+517T>C - IntronicSNV - 4/18
11-57321322-T-C UBE2L6 c.310+588A>G - IntronicSNV - 3/3
19-19023853-T-G COPE c.129A>C p.Leu43Leu Synonymous 2/10 -
19-19023853-T-C COPE c.129A>G p.Leu43Leu Synonymous 2/10 -
8-124450364-G-T WDYHV1 c.508+790G>T - IntronicSNV - 5/5
19-880602-A-G MED16 c.1142-454T>C - IntronicSNV - 7/15
3-151085578-C-A P2RY12 c.-180+16902G>T - intron_variant - 1/2
5-230778-T-C SDHA c.771-213T>C - IntronicSNV - 6/14
15-73006950-A-G BBS4 c.221-682A>G - IntronicSNV - 4/15
3-107770938-T-A CD47 c.878-121A>T - IntronicSNV - 7/10
19-48711476-T-C CARD8 c.*3491A>G - 3-UTRSNV 13/13 -
12-50537815-A-T CERS5 c.223T>A p.Cys75Ser Missense 2/10 -
1-206647787-T-A IKBKE c.-55T>A - 5_prime_UTR_variant 3/21 -
6-79658115-C-G PHIP c.4054-623G>C - IntronicSNV - 35/39
9-79116108-C-T GCNT1 c.-144+131C>T - intron_variant - 2/2
9-79116108-C-G GCNT1 c.-144+131C>G - intron_variant - 2/2
12-6603917-G-A NCAPD2 c.1-348G>A - IntronicSNV - 1/31
10-115489152-C-G CASP7 c.864C>G p.Asp288Glu Missense 8/8 -
15-90778486-G-T GDPGP1 c.-67+658G>T - intron_variant - 2/3
6-159076766-G-T SYTL3 c.-229+3892G>T - intron_variant - 2/16
12-10012967-G-C CLEC2B c.73+2131C>G - IntronicSNV - 2/4
1-150366469-C-A RPRD2 c.206-23603C>A - IntronicSNV - 1/10
11-134274763-C-T B3GAT1 c.-150+6938G>A - intron_variant - 1/6
6-79658115-C-T PHIP c.4054-623G>A - IntronicSNV - 35/39
8-134119349-G-A TG c.7573-6317G>A - IntronicSNV - 43/47
6-26412216-C-T BTN3A1 c.862+407C>T - IntronicSNV - 9/9
10-100217879-G-A HPSE2 c.*1452C>T - 3-UTRSNV 12/12 -
1-112237038-C-G RAP1A c.58-925C>G - IntronicSNV - 2/7
1-112237038-C-A RAP1A c.58-925C>A - IntronicSNV - 2/7
6-42934620-C-T PEX6 c.1885-24G>A - IntronicSNV - 8/16
13-31312178-A-T ALOX5AP c.70+2366A>T - IntronicSNV - 1/4
20-42230695-T-C IFT52 c.208-1705T>C - IntronicSNV - 3/13
16-88751528-T-G SNAI3 c.76+1211A>C - IntronicSNV - 1/2
17-3818830-A-C P2RX1 c.137+553T>G - IntronicSNV - 1/11
19-36825458-C-T ZFP14 c.*5668G>A - 3-UTRSNV 5/5 -
2-160637324-A-G LY75-CD302 c.5218+69T>C - IntronicSNV - 36/38
16-88013385-A-G BANP c.71-1257A>G - IntronicSNV - 2/11
11-6634149-C-T TPP1 c.*1628G>A - 3-UTRSNV 13/13 -
11-6634149-C-G TPP1 c.*1628G>C - 3-UTRSNV 13/13 -
12-122075917-T-C ORAI1 c.310-3030T>C - IntronicSNV - 1/1
12-89908627-T-A POC1B c.100+10270A>T - IntronicSNV - 2/11
6-131995313-A-G ENPP3 c.654A>G p.Pro218Pro Synonymous 8/25 -
14-75497984-C-T MLH3 c.3756-579G>A - IntronicSNV - 7/11
14-100834982-T-A WARS c.99+442A>T - IntronicSNV - 2/10
6-43608386-C-T MAD2L1BP c.*116C>T - 3-UTRSNV 3/3 -
20-49434526-A-G BCAS4 c.181-222A>G - IntronicSNV - 1/5
10-98989454-A-G ARHGAP19 c.1395+67T>C - IntronicSNV - 10/11
2-69690187-A-G AAK1 c.*12814T>C - 3-UTRSNV 22/22 -
1-47056347-C-T MKNK1 c.-3+3438G>A - intron_variant - 2/13
12-6631888-G-A NCAPD2 c.1955-106G>A - IntronicSNV - 15/31
16-68307447-T-C SLC7A6 c.1-1183T>C - IntronicSNV - 2/10
14-50069930-G-T LRR1 c.282+744G>T - IntronicSNV - 2/2
18-34393672-C-A TPGS2 c.165+5185G>T - IntronicSNV - 2/6
22-29513729-G-A KREMEN1 c.353-3616G>A - IntronicSNV - 3/8
19-36903262-G-A ZFP82 c.1-2571C>T - IntronicSNV - 1/4
4-103183218-G-A SLC39A8 c.*983C>T - 3-UTRSNV 8/8 -
15-101750459-C-T CHSY1 c.816+24828G>A - IntronicSNV - 2/2
9-139316916-G-T PMPCA c.1408+488G>T - IntronicSNV - 12/12
22-51063477-T-C ARSA c.*96A>G - 3-UTRSNV 8/8 -
5-81325910-C-G ATG10 c.109-28404C>G - IntronicSNV - 3/8
5-176598502-T-C NSD1 c.121-20383T>C - IntronicSNV - 3/23
11-67196237-T-C RPS6KB2 c.78+143T>C - IntronicSNV - 1/14
20-25297909-G-A ABHD12 c.543-195C>T - IntronicSNV - 4/12
6-33672747-A-G UQCC2 c.139-3550T>C - IntronicSNV - 1/3
1-36627191-T-C MAP7D1 c.46+5127T>C - IntronicSNV - 1/16
5-79940143-T-C DHFR c.242+5065A>G - IntronicSNV - 3/5
2-202337236-A-G STRADB c.194-442A>G - IntronicSNV - 4/11
7-23296533-G-A GPNMB c.390G>A p.Pro130Pro Synonymous 4/11 -
20-44351515-A-C SPINT4 c.115+394A>C - IntronicSNV - 1/2
5-96126308-A-G ERAP1 c.1359T>C p.Ser453Ser Synonymous 9/20 -
12-122405912-G-T WDR66 c.2608G>T p.Val870Leu Missense 17/22 -
4-942660-C-T TMEM175 c.192+718C>T - IntronicSNV - 3/10
8-11611500-C-G GATA4 c.910-1055C>G - IntronicSNV - 4/6
5-43141120-C-T ZNF131 c.371+1709C>T - IntronicSNV - 4/7
17-4639597-G-T CXCL16 c.359-794C>A - IntronicSNV - 3/5
9-71794956-T-A TJP2 c.60+5608T>A - IntronicSNV - 1/20
6-133092046-C-A SLC18B1 c.1287G>T p.Glu429Asp Missense 13/14 -
4-129823442-G-C SCLT1 c.1830-11150C>G - IntronicSNV - 18/20
4-76823225-A-G PPEF2 c.-59+158T>C - intron_variant - 1/16
11-130785205-G-T SNX19 c.630C>A p.Thr210Thr Synonymous 1/11 -
11-130785205-G-A SNX19 c.630C>T p.Thr210Thr Synonymous 1/11 -
12-122227691-A-C RHOF c.226+3367T>G - IntronicSNV - 2/4
17-76893671-A-G CEP295NL c.44+4196T>C - IntronicSNV - 2/2
11-656845-G-A DEAF1 c.1504-2794C>T - IntronicSNV - 10/11
19-53119029-T-C ZNF83 c.1-1212A>G - IntronicSNV - 2/2
19-53119029-T-A ZNF83 c.1-1212A>T - IntronicSNV - 2/2
3-139394571-T-C NMNAT3 c.-103+1976A>G - intron_variant - 1/4
4-75967100-A-G PARM1 c.849-4273A>G - IntronicSNV - 3/3
11-124746770-T-G ROBO3 c.2780-287T>G - IntronicSNV - 17/27
11-118981025-A-G C2CD2L c.450+116A>G - IntronicSNV - 2/13
12-97321907-A-T NEDD1 c.511-6847A>T - IntronicSNV - 5/14
3-10134320-C-T FANCD2 c.3849+384C>T - IntronicSNV - 38/43
14-99971294-C-T CCNK c.1045+1313C>T - IntronicSNV - 9/10
1-17609745-C-A PADI3 c.*171C>A - 3-UTRSNV 16/16 -
1-17609745-C-T PADI3 c.*171C>T - 3-UTRSNV 16/16 -
18-8616036-G-A RAB12 c.226+6085G>A - IntronicSNV - 1/5
16-84211483-C-T TAF1C c.*1064G>A - 3-UTRSNV 15/15 -
4-164459779-A-G MARCH1 c.520+6969T>C - IntronicSNV - 3/3
4-48080649-G-C TXK c.1173+1280C>G - IntronicSNV - 11/14
17-4639597-G-A CXCL16 c.359-794C>T - IntronicSNV - 3/5
10-81935048-C-T ANXA11 c.-9+815G>A - intron_variant - 3/16
1-145747463-C-T PDZK1 c.210+210C>T - IntronicSNV - 3/9
17-38029120-C-T ZPBP2 c.560-177C>T - IntronicSNV - 4/6
16-1890056-T-G FAHD1 c.*802T>G - 3_prime_UTR_variant 3/3 -
14-92955385-A-C SLC24A4 c.1537+2261A>C - IntronicSNV - 14/16
19-12762783-T-C MAN2B1 c.2046+184A>G - IntronicSNV - 16/23
1-25889422-C-T LDLRAP1 c.533-139C>T - IntronicSNV - 5/8
9-131589033-C-T SPOUT1 c.369-125G>A - IntronicSNV - 4/11
12-122227691-A-T RHOF c.226+3367T>A - IntronicSNV - 2/4
10-91097068-C-T IFIT3 c.6-1350C>T - IntronicSNV - 1/1
11-656845-G-C DEAF1 c.1504-2794C>G - IntronicSNV - 10/11
12-113403497-G-A OAS3 c.2404-52G>A - IntronicSNV - 11/15
17-102209-A-T RPH3AL c.439-5133T>A - IntronicSNV - 6/9
2-231160521-A-G SP140 c.2016+1488A>G - IntronicSNV - 21/26
17-79068890-C-T BAIAP2 c.490-4838C>T - IntronicSNV - 6/13
3-122110921-C-T FAM162A c.34+7775C>T - IntronicSNV - 1/4
17-29639590-C-T NF1 c.4773-13248C>T - IntronicSNV - 35/56
3-113208224-G-A SPICE1 c.493-314C>T - IntronicSNV - 6/17
1-203741368-C-A LAX1 c.390+93C>A - IntronicSNV - 4/4
20-18462518-C-G POLR3F c.873+64C>G - IntronicSNV - 8/8
20-18462518-C-A POLR3F c.873+64C>A - IntronicSNV - 8/8
20-18462518-C-T POLR3F c.873+64C>T - IntronicSNV - 8/8
16-256278-A-T LUC7L c.367-132T>A - IntronicSNV - 4/9
16-256278-A-C LUC7L c.367-132T>G - IntronicSNV - 4/9
7-138740037-G-C ZC3HAV1 c.2101C>G p.Gln701Glu Missense 10/13 -
1-111780414-G-A CHI3L2 c.736-958G>A - IntronicSNV - 7/10
21-44323720-C-T NDUFV3 c.170-5254C>T - IntronicSNV - 2/2
1-110295772-T-C EPS8L3 c.1167A>G p.Ser389Ser Synonymous 13/19 -
10-101923421-T-C ERLIN1 c.655+340A>G - IntronicSNV - 8/10
3-113208224-G-T SPICE1 c.493-314C>A - IntronicSNV - 6/17
6-109946561-G-A AK9 c.1255-6122C>T - IntronicSNV - 12/40
20-33171645-A-G PIGU c.926+1596T>C - IntronicSNV - 9/11
10-85910311-C-A GHITM c.782-154C>A - IntronicSNV - 7/8
10-85910311-C-G GHITM c.782-154C>G - IntronicSNV - 7/8
3-72459756-C-T RYBP c.129-31178G>A - IntronicSNV - 1/3
18-9851650-C-A RAB31 c.490+5962C>A - IntronicSNV - 6/6
7-138740037-G-A ZC3HAV1 c.2101C>T p.Gln701* Nonsense 10/13 -
20-633149-G-A SRXN1 c.210+471C>T - IntronicSNV - 1/1
12-56865338-A-G GLS2 c.1742T>C p.Leu581Pro Missense 18/18 -
21-34892359-T-G GART c.1702+312A>C - IntronicSNV - 14/21
12-70139673-T-G RAB3IP c.-26+6862T>G - intron_variant - 1/10
17-33289937-A-T ZNF830 c.*233A>T - 3-UTRSNV 1/1 -
16-84796402-A-C USP10 c.1567-193A>C - IntronicSNV - 9/14
16-84796402-A-T USP10 c.1567-193A>T - IntronicSNV - 9/14
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 -
12-66597701-C-T IRAK3 c.134-5535C>T - IntronicSNV - 1/10
22-38144235-C-T TRIOBP c.5323-3544C>T - IntronicSNV - 11/23
2-99996165-A-G EIF5B c.2061+274A>G - IntronicSNV - 12/23
20-62522466-A-G TPD52L2 c.*1168A>G - 3-UTRSNV 7/7 -
21-34825318-T-C TMEM50B c.432-2148A>G - IntronicSNV - 6/6
4-142654801-C-T IL15 c.*800C>T - 3-UTRSNV 10/10 -
20-4161500-C-T SMOX c.436-950C>T - IntronicSNV - 3/8
11-35806782-A-G TRIM44 c.1008-21126A>G - IntronicSNV - 4/4
16-2026442-G-A TBL3 c.1292+127G>A - IntronicSNV - 13/21
5-36171420-G-A SKP2 c.771-285G>A - IntronicSNV - 6/9
14-35556592-C-T PPP2R3C c.1173+565G>A - IntronicSNV - 12/12
1-93825638-T-A DR1 c.385-412T>A - IntronicSNV - 2/2
19-51915953-A-C SIGLEC10 c.1821+1013T>G - IntronicSNV - 10/10
15-51775909-C-A DMXL2 c.5483-2089G>T - IntronicSNV - 23/42
4-102240747-G-A PPP3CA c.58+27149C>T - IntronicSNV - 1/13
6-44081987-T-C MRPL14 c.72-41A>G - IntronicSNV - 2/2
16-87879522-G-A SLC7A5 c.665-4761C>T - IntronicSNV - 2/9
16-87879522-G-T SLC7A5 c.665-4761C>A - IntronicSNV - 2/9
20-44591324-T-C ZNF335 c.1534-503A>G - IntronicSNV - 9/27
1-63107526-C-T DOCK7 c.819-5252G>A - IntronicSNV - 7/48
9-32437249-T-C ACO1 c.2247+854T>C - IntronicSNV - 18/20
10-122667022-T-G WDR11 c.3517+655T>G - IntronicSNV - 28/28
19-9487064-C-G ZNF559-ZNF177 c.1-1924C>G - 5-UTRSNV - 6/11
11-688804-C-T DEAF1 c.388-344G>A - IntronicSNV - 2/11
22-29920819-C-T THOC5 c.1175+1008G>A - IntronicSNV - 12/19
4-40120420-C-T N4BP2 c.1820+776C>T - IntronicSNV - 8/17
12-15070635-C-T ERP27 c.451-398G>A - IntronicSNV - 4/6
3-195476085-A-T MUC4 c.15872-150T>A - IntronicSNV - 23/24
3-195476085-A-G MUC4 c.15872-150T>C - IntronicSNV - 23/24
5-10397021-G-A MARCH6 c.862-384G>A - IntronicSNV - 9/25
1-38445654-T-A SF3A3 c.691-449A>T - IntronicSNV - 8/16
3-101179057-T-C SENP7 c.187-1161A>G - IntronicSNV - 3/23
11-8889648-G-A ST5 c.-156+12909C>T - intron_variant - 2/22
15-65930883-A-G SLC24A1 c.1944+364A>G - IntronicSNV - 3/9
1-224339000-G-A FBXO28 c.517-1844G>A - IntronicSNV - 3/4
14-64950973-C-A ZBTB25 c.*2668G>T - IntergenicSNV 3/3 -
7-75255748-G-C HIP1 c.121-27183C>G - IntronicSNV - 1/30
6-149156611-C-A UST c.248-51511C>A - IntronicSNV - 1/7
1-157104470-C-T ETV3 c.285-451G>A - IntronicSNV - 3/3
16-57722576-T-A ADGRG3 c.*203T>A - 3-UTRSNV 12/12 -
11-108383676-A-G EXPH5 c.2558T>C p.Leu853Pro Missense 6/6 -
17-46171099-T-A CBX1 c.-38+7018A>T - intron_variant - 1/4
10-60147270-G-A TFAM c.221-680G>A - IntronicSNV - 2/6
19-50148052-G-A SCAF1 c.1-232G>A - IntronicSNV - 1/10
12-124076806-T-C TMED2 c.481+1810T>C - IntronicSNV - 3/3
16-16353166-T-C NOMO3 c.1221-2193T>C - IntronicSNV - 11/30
11-688804-C-G DEAF1 c.388-344G>C - IntronicSNV - 2/11
22-29920819-C-A THOC5 c.1175+1008G>T - IntronicSNV - 12/19
4-40120420-C-A N4BP2 c.1820+776C>A - IntronicSNV - 8/17
12-15070635-C-G ERP27 c.451-398G>C - IntronicSNV - 4/6
12-15070635-C-A ERP27 c.451-398G>T - IntronicSNV - 4/6
7-105153242-G-A PUS7 c.1-4283C>T - IntronicSNV - 1/15
3-50824229-C-T DOCK3 c.121+8040C>T - IntronicSNV - 2/52
21-42700410-A-G FAM3B c.163+5417A>G - IntronicSNV - 2/7
2-173909659-G-C RAPGEF4 c.2854-3669G>C - IntronicSNV - 29/30
11-88027209-T-C CTSC c.1357A>G p.Ile453Val Missense 7/7 -
17-73937665-T-C ACOX1 c.*5164A>G - 3-UTRSNV 14/14 -
2-191219614-G-A INPP1 c.1-5215G>A - IntronicSNV - 2/6
14-64950973-C-T ZBTB25 c.*2668G>A - IntergenicSNV 3/3 -
10-111664595-A-G XPNPEP1 c.246+2854T>C - IntronicSNV - 3/19
1-41130424-G-A RIMS3 c.-207+642C>T - intron_variant - 1/7
1-157104470-C-G ETV3 c.285-451G>C - IntronicSNV - 3/3
12-10131684-T-G CLEC12A c.190+21T>G - IntronicSNV - 2/5
19-36230174-T-C IGFLR1 c.*7A>G - 3-UTRSNV 5/5 -
17-46171099-T-G CBX1 c.-38+7018A>C - intron_variant - 1/4
19-54708665-T-C RPS9 c.221-1479T>C - IntronicSNV - 3/4
19-54708665-T-A RPS9 c.221-1479T>A - IntronicSNV - 3/4
17-18249611-G-A SHMT1 c.519+1199C>T - IntronicSNV - 5/11
3-99774720-T-C CMSS1 c.65-91097T>C - IntronicSNV - 1/9
10-115481018-C-T CASP7 c.346+91C>T - IntronicSNV - 4/7
15-42192040-T-C EHD4 c.*803A>G - 3-UTRSNV 6/6 -
12-48077441-G-C RPAP3 c.993-1841C>G - IntronicSNV - 9/16
5-81585737-C-A ATP6AP1L c.-856-5575C>A - intron_variant - 2/9
10-104616500-T-C BORCS7 c.141+2316T>C - IntronicSNV - 1/5
12-109017898-C-T SELPLG c.234G>A p.Met78Ile Missense 2/2 -
16-18839788-G-T SMG1 c.9604-298C>A - IntronicSNV - 54/62
11-43824633-A-G HSD17B12 c.391+4656A>G - IntronicSNV - 4/10
9-34336342-A-G NUDT2 c.-152+3A>G - splice_region_variant,intron_variant - 2/4
11-43824633-A-T HSD17B12 c.391+4656A>T - IntronicSNV - 4/10
5-88041932-C-T MEF2C c.637+2955G>A - IntronicSNV - 6/10
20-17629162-G-A RRBP1 c.614-5390C>T - IntronicSNV - 4/25
20-17629162-G-C RRBP1 c.614-5390C>G - IntronicSNV - 4/25
1-11900825-G-C CLCN6 c.*545G>C - 3-UTRSNV 23/23 -
1-11900825-G-T CLCN6 c.*545G>T - 3-UTRSNV 23/23 -
15-45664189-T-A GATM c.289-2470A>T - IntronicSNV - 2/8
20-6014954-G-A CRLS1 c.730-156G>A - IntronicSNV - 5/6
1-110295772-T-A EPS8L3 c.1167A>T p.Ser389Ser Synonymous 13/19 -
12-96398171-T-G LTA4H c.1531-473A>C - IntronicSNV - 16/18
9-21331119-C-T KLHL9 c.*1886G>A - 3-UTRSNV 1/1 -
1-167719300-A-G MPZL1 c.92-15520A>G - IntronicSNV - 1/4
19-2409865-C-T TMPRSS9 c.1016-391C>T - IntronicSNV - 7/16
20-43528521-G-A YWHAB c.1-1654G>A - IntronicSNV - 2/6
2-191301368-A-G MFSD6 c.613A>G p.Arg205Gly Missense 3/8 -
2-201808618-T-C ORC2 c.329-1118A>G - IntronicSNV - 5/17
6-2890190-A-G SERPINB9 c.*207T>C - 3-UTRSNV 7/7 -
6-89325645-A-C RNGTT c.1507-1531T>G - IntronicSNV - 14/15
2-44546741-T-C SLC3A1 c.1618-597T>C - IntronicSNV - 9/9
2-191167414-T-C HIBCH c.79-5735A>G - IntronicSNV - 2/13
16-57061189-T-C NLRC5 c.2075+259T>C - IntronicSNV - 5/47
3-132073409-G-A ACPP c.968+1742G>A - IntronicSNV - 9/9
3-158391124-C-G GFM1 c.1601+6949C>G - IntronicSNV - 13/17
3-158391124-C-T GFM1 c.1601+6949C>T - IntronicSNV - 13/17
19-58883897-G-A ZNF837 c.-139-2602C>T - intron_variant - 1/2
11-95560371-G-A CEP57 c.886-579G>A - IntronicSNV - 8/10
1-15273952-T-G KAZN c.-57+1283T>G - intron_variant - 1/7
19-58883897-G-C ZNF837 c.-139-2602C>G - intron_variant - 1/2
13-52326477-A-G WDFY2 c.831+926A>G - IntronicSNV - 8/11
14-76624547-T-G GPATCH2L c.662+3179T>G - IntronicSNV - 2/9
17-62492413-A-G POLG2 c.562+112T>C - IntronicSNV - 1/7
18-25749095-A-C CDH2 c.60+7832T>G - IntronicSNV - 1/15
7-73649825-T-C RFC2 c.954+37A>G - IntronicSNV - 10/10
11-64900270-G-C SYVN1 c.379-19C>G - IntronicSNV - 4/15
4-122601781-C-T ANXA5 c.394+1045G>A - IntronicSNV - 6/12
3-59974553-G-C FHIT c.279+22544C>G - IntronicSNV - 7/9
17-18263957-G-C SHMT1 c.-20+2729C>G - intron_variant - 1/11
10-26745165-T-C APBB1IP c.-1+17383T>C - intron_variant - 2/14
19-16327755-T-C AP1M1 c.546+7767T>C - IntronicSNV - 5/11
5-77339846-G-T AP3B1 c.2431-4748C>A - IntronicSNV - 22/26
22-26840477-C-T ASPHD2 c.*1305C>T - 3-UTRSNV 4/4 -
5-96295121-G-T LNPEP c.20-19721G>T - IntronicSNV - 1/17
1-65118909-C-T CACHD1 c.1541-532C>T - intron_variant - 10/26
13-101280900-G-C TMTC4 c.1507-2496C>G - IntronicSNV - 12/18
4-942660-C-G TMEM175 c.192+718C>G - IntronicSNV - 3/10
19-40404633-T-C FCGBP c.4927+1286A>G - IntronicSNV - 10/35
2-99799267-A-G MRPL30 c.-28+1555A>G - intron_variant - 1/5
21-47625544-C-T LSS c.1670+206G>A - IntronicSNV - 17/22
19-33444456-A-G CEP89 c.492+65T>C - IntronicSNV - 4/18
16-58555553-T-A CNOT1 c.6918-332A>T - IntronicSNV - 47/48
13-50291611-A-T KPNA3 c.771+2300T>A - IntronicSNV - 10/16
6-3348816-G-A SLC22A23 c.71-24580C>T - IntronicSNV - 4/10
6-3348816-G-C SLC22A23 c.71-24580C>G - IntronicSNV - 4/10
17-44801340-C-T NSF c.1762-2575C>T - IntronicSNV - 15/20
9-136305439-G-A ADAMTS13 c.1787-26G>A - IntronicSNV - 15/28
5-77339846-G-A AP3B1 c.2431-4748C>T - IntronicSNV - 22/26
16-81023572-G-A CMC2 c.81+7347C>T - IntronicSNV - 2/3
14-102887621-G-A TECPR2 c.639-3695G>A - IntronicSNV - 5/19
17-73509541-C-T CASKIN2 c.94+251G>A - IntronicSNV - 2/19
7-128658739-G-C TNPO3 c.121-528C>G - IntronicSNV - 1/22
22-22332041-T-C TOP3B c.1-1960A>G - IntronicSNV - 1/17
5-137350478-T-C FAM13B c.371-2844A>G - IntronicSNV - 4/21
8-98860028-G-A LAPTM4B c.604-3597G>A - intron_variant - 6/6
7-1091625-A-G C7orf50 c.130-41846T>C - IntronicSNV - 2/4
19-44058098-T-C XRCC1 c.415-263A>G - IntronicSNV - 4/16
10-12868304-A-G CAMK1D c.*580A>G - IntergenicSNV 10/10 -
10-12868304-A-C CAMK1D c.*580A>C - IntergenicSNV 10/10 -
6-24629106-T-C KIAA0319 c.-106+16858A>G - intron_variant - 1/20
1-153634058-G-T SNAPIN c.*281G>T - 3-UTRSNV 4/4 -
1-153634058-G-A SNAPIN c.*281G>A - 3-UTRSNV 4/4 -
13-101280900-G-T TMTC4 c.1507-2496C>A - IntronicSNV - 12/18
17-5446616-G-C NLRP1 c.2529-1269C>G - IntronicSNV - 5/16
17-5446616-G-A NLRP1 c.2529-1269C>T - IntronicSNV - 5/16
22-50610628-G-A PANX2 c.226+1243G>A - IntronicSNV - 1/2
12-25048073-C-G BCAT1 c.79-664G>C - IntronicSNV - 2/10
12-51074873-T-A DIP2B c.1206+327T>A - IntronicSNV - 9/37
19-47763285-G-A CCDC9 c.109-293G>A - IntronicSNV - 3/11
11-32122003-C-A RCN1 c.628-91C>A - IntronicSNV - 3/5
17-5299950-T-C NUP88 c.1292-1649A>G - IntronicSNV - 8/16
4-867866-T-C GAK c.2054+2452A>G - IntronicSNV - 18/27
22-26926047-A-G TPST2 c.1093-1819T>C - IntronicSNV - 5/6
17-42223068-T-C C17orf53 c.54+447T>C - IntronicSNV - 2/9
2-64071232-A-C UGP2 c.19+1894A>C - IntronicSNV - 1/9
15-22993882-A-G CYFIP1 c.3042+727A>G - IntronicSNV - 26/30
12-95367722-C-T NDUFA12 c.258-2326G>A - IntronicSNV - 3/3
12-95367722-C-G NDUFA12 c.258-2326G>C - IntronicSNV - 3/3
1-9122557-A-G SLC2A5 c.34-4248T>C - IntronicSNV - 1/11
2-190562708-A-G ANKAR c.1708+1613A>G - IntronicSNV - 7/22
9-99234557-T-G HABP4 c.827+1181T>G - IntronicSNV - 5/7
17-48628470-T-A SPATA20 c.1495T>A p.Ser499Thr Missense 12/17 -
13-111286607-G-A NAXD c.496-285G>A - IntronicSNV - 5/9
15-64829781-G-A ZNF609 c.747+37416G>A - IntronicSNV - 2/9
3-112547601-G-A CD200R1L c.112+565C>T - IntronicSNV - 2/5
10-120919179-G-A SFXN4 c.360+61C>T - IntronicSNV - 6/13
5-76729538-C-G WDR41 c.1228-426G>C - IntronicSNV - 12/12
17-36932200-C-G PIP4K2B c.807+1740G>C - IntronicSNV - 7/9
12-10231904-G-T CLEC1A c.391+1932C>A - IntronicSNV - 3/5
9-91927909-A-C CKS2 c.59+1643A>C - IntronicSNV - 1/2
18-61570503-C-G SERPINB2 c.1212C>G p.Asn404Lys Missense 8/8 -
8-87501710-G-C RMDN1 c.248-842C>G - IntronicSNV - 2/9
15-102203878-T-C TARSL2 c.1968-1859A>G - IntronicSNV - 15/18
18-5293943-C-T ZBTB14 c.1-698G>A - IntronicSNV - 1/2
19-9533805-G-T ZNF266 c.-626-2911C>A - intron_variant - 4/10
19-58084930-G-T ZNF416 c.342C>A p.Thr114Thr Synonymous 4/4 -
4-103556316-T-C MANBA c.2158-114A>G - IntronicSNV - 15/16
2-223802386-C-T ACSL3 c.2005+2981C>T - IntronicSNV - 16/16
14-105633544-T-A JAG2 c.417+550A>T - IntronicSNV - 2/25
14-105633544-T-C JAG2 c.417+550A>G - IntronicSNV - 2/25
16-2026442-G-C TBL3 c.1292+127G>C - IntronicSNV - 13/21
1-23786203-C-T ASAP3 c.130-3516G>A - IntronicSNV - 1/24
1-22088841-G-A USP48 c.135-4565C>T - IntronicSNV - 1/26
5-134160995-A-G DDX46 c.2975-1642A>G - IntronicSNV - 21/22
12-133115405-T-A FBRSL1 c.616-9184T>A - IntronicSNV - 4/16
16-15980509-T-C FOPNL c.28+1906A>G - IntronicSNV - 1/4
4-109057369-A-C LEF1 c.414+27355T>G - IntronicSNV - 3/10
17-19204531-T-C EPN2 c.767-8667T>C - IntronicSNV - 4/10
17-19204531-T-A EPN2 c.767-8667T>A - IntronicSNV - 4/10
17-30659006-T-G C17orf75 c.976-9A>C - IntronicSNV - 9/9
11-13478839-C-A BTBD10 c.-58+5800G>T - intron_variant - 1/8
17-30659006-T-A C17orf75 c.976-9A>T - IntronicSNV - 9/9
1-77897688-T-C AK5 c.1059+14288T>C - IntronicSNV - 8/13
20-61472596-G-A TCFL5 c.*731C>T - 3-UTRSNV 6/6 -
13-111925387-T-C ARHGEF7 c.1137-774T>C - IntronicSNV - 10/19
4-17588950-G-A LAP3 c.705-1492G>A - IntronicSNV - 6/12
11-19187016-A-G ZDHHC13 c.1390+324A>G - IntronicSNV - 13/16
1-24482474-G-A IFNLR1 c.*1146C>T - 3-UTRSNV 7/7 -
3-3205432-G-A CRBN c.687+3886C>T - IntronicSNV - 5/10
3-121412394-C-T GOLGB1 c.6767+194G>A - IntronicSNV - 13/21
17-62479273-A-C POLG2 c.1111-157T>G - IntronicSNV - 5/7
12-48169526-A-G SLC48A1 c.136+2303A>G - IntronicSNV - 1/2
6-2958095-A-G SERPINB6 c.177+1307T>C - IntronicSNV - 3/7
19-54664752-A-C TMC4 c.1854T>G p.Leu618Leu Synonymous 13/15 -
22-50957520-G-A NCAPH2 c.731-99G>A - IntronicSNV - 8/19
22-31647094-A-T LIMK2 c.53+2339A>T - IntronicSNV - 1/14
3-11886365-T-C TAMM41 c.136-680A>G - IntronicSNV - 1/6
3-11886365-T-A TAMM41 c.136-680A>T - IntronicSNV - 1/6
7-1522849-G-A INTS1 c.3542-506C>T - IntronicSNV - 26/47
17-81006286-G-A B3GNTL1 c.277+61C>T - IntronicSNV - 3/12
15-84349089-G-T ADAMTSL3 c.70-24052G>T - IntronicSNV - 2/29
19-12972397-G-C MAST1 c.1366+2844G>C - IntronicSNV - 12/25
4-15624770-C-T FBXL5 c.1847+2105G>A - IntronicSNV - 9/10
6-13321856-T-C TBC1D7 c.194-529A>G - IntronicSNV - 3/7
20-25558298-C-T NINL c.-12+7793G>A - intron_variant - 1/23
11-18340241-T-A HPS5 c.1-836A>T - IntronicSNV - 1/22
11-18340241-T-G HPS5 c.1-836A>C - IntronicSNV - 1/22
1-150366469-C-T RPRD2 c.206-23603C>T - IntronicSNV - 1/10
10-99118382-T-C RRP12 c.3709-6A>G - IntronicSNV - 32/33
7-35009754-T-A DPY19L1 c.696-610A>T - IntronicSNV - 8/21
7-35009754-T-C DPY19L1 c.696-610A>G - IntronicSNV - 8/21
2-44873409-A-T CAMKMT c.377-58013A>T - IntronicSNV - 3/10
7-87826957-G-T ADAM22 c.*1151G>T - 3-UTRSNV 31/31 -
2-10541712-T-A HPCAL1 c.-25+4666T>A - intron_variant - 2/4
17-7500765-C-T FXR2 c.661-1453G>A - IntronicSNV - 7/16
10-95194938-T-C MYOF c.237-3665A>G - IntronicSNV - 3/53
11-19187016-A-C ZDHHC13 c.1390+324A>C - IntronicSNV - 13/16
20-1610551-T-A SIRPG c.*3-269A>T - intron_variant - 5/5
17-61873307-A-G DDX42 c.373-2091A>G - IntronicSNV - 4/18
17-36922196-A-G PIP4K2B c.*3748T>C - 3-UTRSNV 10/10 -
7-44617793-G-A TMED4 c.*1285C>T - IntergenicSNV 5/5 -
6-35422754-G-T FANCE c.249-770G>T - IntronicSNV - 1/9
19-3533803-A-C FZR1 c.1347+407A>C - IntronicSNV - 12/13
5-150662306-G-A SLC36A3 c.974+1299C>T - IntronicSNV - 8/9
22-31647094-A-G LIMK2 c.53+2339A>G - IntronicSNV - 1/14
9-130169874-A-G SLC2A8 c.*346A>G - 3-UTRSNV 10/10 -
8-61647048-A-G CHD7 c.1-6944A>G - IntronicSNV - 1/37
13-74372931-G-A KLF12 c.806+14358C>T - IntronicSNV - 5/7
3-105203192-A-G ALCAM c.74-35719A>G - IntronicSNV - 1/15
1-175126644-G-A KIAA0040 c.*3206C>T - 3-UTRSNV 4/4 -
11-598033-C-T PHRF1 c.895-340C>T - IntronicSNV - 8/17
1-180981696-G-C STX6 c.36-7097C>G - IntronicSNV - 1/7
2-47692281-C-T MSH2 c.1511-1516C>T - IntronicSNV - 9/15
3-42684133-A-G NKTR c.4142+45A>G - IntronicSNV - 14/16
13-31906141-A-C B3GLCT c.*2336A>C - 3-UTRSNV 15/15 -
3-42684133-A-T NKTR c.4142+45A>T - IntronicSNV - 14/16
17-4011602-A-G ZZEF1 c.1277+1345T>C - IntronicSNV - 6/54
12-8688075-T-C CLEC4E c.488+611A>G - IntronicSNV - 5/5
2-220040330-A-G CNPPD1 c.243T>C p.Tyr81Tyr Synonymous 3/8 -
12-8688075-T-G CLEC4E c.488+611A>C - IntronicSNV - 5/5
20-25290512-C-A ABHD12 c.620-301G>T - IntronicSNV - 6/12
14-92338342-G-A FBLN5 c.1186-1613C>T - IntronicSNV - 10/10
17-42398052-A-G SLC25A39 c.715T>C p.Phe239Leu Missense 9/12 -
17-42398052-A-C SLC25A39 c.715T>G p.Phe239Val Missense 9/12 -
10-86126945-A-G CCSER2 c.1-3864A>G - IntronicSNV - 1/10
1-89518065-C-G GBP1 c.*973G>C - 3-UTRSNV 11/11 -
1-89518065-C-A GBP1 c.*973G>T - 3-UTRSNV 11/11 -
1-11899033-G-A CLCN6 c.2529+316G>A - IntronicSNV - 22/22
1-11899033-G-T CLCN6 c.2529+316G>T - IntronicSNV - 22/22
19-30192738-C-G C19orf12 c.*881G>C - 3-UTRSNV 3/3 -
19-30192738-C-T C19orf12 c.*881G>A - 3-UTRSNV 3/3 -
2-100739970-T-C AFF3 c.-144-17925A>G - intron_variant - 1/23
7-5238595-A-G WIPI2 c.129-612A>G - IntronicSNV - 2/12
9-139364585-A-G SEC16A c.3705-1621T>C - IntronicSNV - 4/31
22-32097775-T-C PRR14L c.6001-27A>G - IntronicSNV - 6/8
21-34837144-A-G TMEM50B c.280+505T>C - IntronicSNV - 4/6
14-64976120-C-G ZBTB1 c.-19+4456C>G - intron_variant - 1/1
20-43532388-A-G YWHAB c.301-246A>G - IntronicSNV - 3/6
18-9488704-C-T RALBP1 c.-56+13015C>T - intron_variant - 1/9
1-111742761-T-A DENND2D c.67+254A>T - IntronicSNV - 1/11
16-48277850-T-C ABCC11 c.-65+270A>G - intron_variant - 1/30
1-111742761-T-C DENND2D c.67+254A>G - IntronicSNV - 1/11
22-40757228-A-C ADSL c.793-49A>C - IntronicSNV - 7/12
1-93651547-T-C CCDC18 c.304-355T>C - IntronicSNV - 3/27
13-95899607-A-G ABCC4 c.186-258T>C - IntronicSNV - 2/30
14-78321810-T-C ADCK1 c.220-3609T>C - IntronicSNV - 3/10
6-33749978-T-C LEMD2 c.854-1048A>G - IntronicSNV - 3/8
18-29692874-G-A RNF138 c.277-834G>A - IntronicSNV - 3/7
19-33652356-G-C WDR88 c.1080+954G>C - IntronicSNV - 8/10
19-33652356-G-A WDR88 c.1080+954G>A - IntronicSNV - 8/10
1-154238383-A-G UBAP2L c.2903-594A>G - IntronicSNV - 24/26
8-67362864-A-G ADHFE1 c.735-1324A>G - IntronicSNV - 8/13
1-154238383-A-T UBAP2L c.2903-594A>T - IntronicSNV - 24/26
4-178359719-A-G AGA c.507+180T>C - IntronicSNV - 4/8
16-53474250-G-A RBL2 c.371+1192G>A - IntronicSNV - 2/21
17-504978-C-G VPS53 c.1131+57G>C - IntronicSNV - 11/17
17-504978-C-T VPS53 c.1131+57G>A - IntronicSNV - 11/17
12-6754191-A-G ACRBP c.475+195T>C - IntronicSNV - 4/9
11-118958127-C-A HMBS c.34-838C>A - IntronicSNV - 1/13
20-3885917-T-C PANK2 c.1-2901T>C - IntronicSNV - 1/6
12-89908627-T-C POC1B c.100+10270A>G - IntronicSNV - 2/11
16-66606901-G-T CKLF-CMTM1 c.79-4106G>T - IntronicSNV - 1/2
16-31368816-G-C ITGAX c.430+131G>C - IntronicSNV - 5/29
2-113984303-T-C PAX8 c.1189+429A>G - IntronicSNV - 10/11
7-43984254-A-G UBE2D4 c.198+1624A>G - IntronicSNV - 4/6
16-58053161-C-G USB1 c.693+202C>G - IntronicSNV - 6/6
1-167513159-T-C CREG1 c.660-1621A>G - IntronicSNV - 3/3
7-2868997-T-C GNA12 c.309+14490A>G - IntronicSNV - 1/3
12-57486647-A-C NAB2 c.1092-53A>C - IntronicSNV - 3/6
12-57486647-A-G NAB2 c.1092-53A>G - IntronicSNV - 3/6
6-133022197-A-G VNN1 c.342-6876T>C - IntronicSNV - 2/6
1-7810543-A-G CAMTA1 c.4690-716A>G - IntronicSNV - 19/22
19-10115345-T-C COL5A3 c.595-524A>G - IntronicSNV - 4/66
16-3292896-C-T MEFV c.*245G>A - 3-UTRSNV 10/10 -
18-3250326-A-C MYL12A c.-16+2419A>C - intron_variant - 1/3
22-29192670-T-C XBP1 c.453+395A>G - IntronicSNV - 3/4
6-2950980-G-C SERPINB6 c.586-1677C>G - IntronicSNV - 6/7
6-2950980-G-A SERPINB6 c.586-1677C>T - IntronicSNV - 6/7
16-69377553-A-G TMED6 c.490-10T>C - IntronicSNV - 3/3
16-67328453-T-C KCTD19 c.1590+30A>G - IntronicSNV - 11/15
17-76091180-A-C TNRC6C c.4306+1336A>C - IntronicSNV - 17/20
22-28923317-G-A TTC28 c.381+102223C>T - IntronicSNV - 2/22
6-160207049-T-C TCP1 c.280-20A>G - IntronicSNV - 3/11
4-39031842-C-A TMEM156 c.88+2004G>T - IntronicSNV - 1/6
2-95999856-G-A KCNIP3 c.181+23588G>A - IntronicSNV - 2/8
2-95999856-G-C KCNIP3 c.181+23588G>C - IntronicSNV - 2/8
9-133932240-A-C LAMC3 c.1940-76A>C - IntronicSNV - 11/27
5-77746199-C-T SCAMP1 c.731+342C>T - intron_variant - 8/9
18-72170359-T-C CNDP2 c.204+1652T>C - IntronicSNV - 3/11
16-58053161-C-T USB1 c.693+202C>T - IntronicSNV - 6/6
1-1158277-G-A SDF4 c.577+347C>T - IntronicSNV - 4/6
17-66428893-T-G WIPI1 c.800+716A>C - IntronicSNV - 8/12
16-28988269-C-G SPNS1 c.308-960C>G - IntronicSNV - 2/11
1-7810543-A-T CAMTA1 c.4690-716A>T - IntronicSNV - 19/22
22-20090038-G-T DGCR8 c.1690-3662G>T - IntronicSNV - 8/12
6-2950980-G-T SERPINB6 c.586-1677C>A - IntronicSNV - 6/7
7-2258084-C-G MAD1L1 c.597-406G>C - IntronicSNV - 6/18
6-26404374-A-G BTN3A1 c.1-1418A>G - IntronicSNV - 1/9
10-104764271-T-C CNNM2 c.1622-45193T>C - IntronicSNV - 1/7
2-122187367-C-T CLASP1 c.2017+282G>A - IntronicSNV - 20/39
8-86181870-T-G CA13 c.669+1014T>G - IntronicSNV - 6/6
16-56787107-T-C NUP93 c.179+4769T>C - IntronicSNV - 2/21
7-5710427-C-T RNF216 c.2062-18286G>A - IntronicSNV - 13/16
5-126158200-A-T LMNB1 c.1387-273A>T - IntronicSNV - 7/10
5-126158200-A-G LMNB1 c.1387-273A>G - IntronicSNV - 7/10
3-15091248-A-G MRPS25 c.*2700T>C - 3-UTRSNV 4/4 -
9-135118584-T-G NTNG2 c.*1086T>G - IntergenicSNV 8/8 -
12-42859588-C-T PRICKLE1 c.775+408G>A - IntronicSNV - 6/7
22-42983782-C-A POLDIP3 c.1022-204G>T - IntronicSNV - 7/8
5-6639763-T-G SRD5A1 c.293+5781T>G - IntronicSNV - 1/4
19-49896317-G-A CCDC155 c.44-1416G>A - IntronicSNV - 2/19
18-61622791-G-A HMSD c.222+1000G>A - IntronicSNV - 3/3
5-10402955-G-A MARCH6 c.1197+236G>A - IntronicSNV - 14/25
3-105422405-C-T CBLB c.1593+427G>A - IntronicSNV - 11/18
17-19861458-C-T AKAP10 c.746G>A p.Arg249His Missense 4/15 -
1-167410391-T-C CD247 c.59-387A>G - IntronicSNV - 1/7
17-19861458-C-G AKAP10 c.746G>C p.Arg249Pro Missense 4/15 -
15-81430806-T-A CFAP161 c.477+330T>A - IntronicSNV - 4/6
21-47591782-T-A SPATC1L c.1-3479A>T - IntronicSNV - 1/3
21-47591782-T-C SPATC1L c.1-3479A>G - IntronicSNV - 1/3
5-175960676-C-T RNF44 c.1-1203G>A - IntronicSNV - 1/10
18-12697711-A-G CEP76 c.521-304T>C - IntronicSNV - 4/11
5-175960676-C-G RNF44 c.1-1203G>C - IntronicSNV - 1/10
11-68855954-A-G TPCN2 c.*533A>G - 3-UTRSNV 25/25 -
14-102698034-C-A MOK c.891+10G>T - IntronicSNV - 9/10
1-53696051-C-T MAGOH c.259-1425G>A - IntronicSNV - 3/4
1-53696051-C-A MAGOH c.259-1425G>T - IntronicSNV - 3/4
15-79235446-T-C CTSH c.91+1787A>G - IntronicSNV - 1/11
14-102698034-C-T MOK c.891+10G>A - IntronicSNV - 9/10
16-81044947-T-C CENPN c.1-598T>C - IntronicSNV - 1/6
6-25398035-G-A CARMIL1 c.139-22307G>A - IntronicSNV - 2/36
6-43416342-G-C ABCC10 c.3876-277G>C - IntronicSNV - 16/19
16-88928290-A-G TRAPPC2L c.*923A>G - IntergenicSNV 5/5 -
3-66453771-T-A LRIG1 c.1160+1851A>T - IntronicSNV - 9/18
10-131443990-A-G MGMT c.126-62169A>G - intron_variant - 2/4
12-9841364-G-A CLEC2D c.357+682G>A - IntronicSNV - 3/4
18-21623416-A-G TTC39C c.1-20704A>G - IntronicSNV - 1/13
12-9841364-G-C CLEC2D c.357+682G>C - IntronicSNV - 3/4
19-9487064-C-T ZNF559-ZNF177 c.1-1924C>T - 5-UTRSNV - 6/11
14-94520260-C-T DDX24 c.2179-787G>A - IntronicSNV - 7/8
14-77582579-G-A CIPC c.*1918G>A - 3-UTRSNV 4/4 -
7-99670875-G-C ZNF3 c.271+1883C>G - IntronicSNV - 5/5
5-10397021-G-T MARCH6 c.862-384G>T - IntronicSNV - 9/25
6-39056150-C-A GLP1R c.*2301C>A - IntergenicSNV 13/13 -
17-9337661-G-C STX8 c.542-55691C>G - IntronicSNV - 6/7
15-90760174-C-G SEMA4B c.158-497C>G - IntronicSNV - 1/13
7-7268856-G-T C1GALT1 c.1-5095G>T - IntronicSNV - 1/3
7-7268856-G-A C1GALT1 c.1-5095G>A - IntronicSNV - 1/3
15-28443658-G-T HERC2 c.7886-9C>A - IntronicSNV - 49/92
9-95525002-A-G BICD2 c.240+1785T>C - IntronicSNV - 1/7
7-43827414-G-A BLVRA c.13-89G>A - IntronicSNV - 2/7
12-46580618-A-G SLC38A1 c.*2135T>C - 3-UTRSNV 17/17 -
18-32719356-T-G MAPRE2 c.910-903T>G - IntronicSNV - 6/6
1-154233016-G-C UBAP2L c.2579-352G>C - IntronicSNV - 22/26
5-131707429-G-A SLC22A5 c.393+1372G>A - IntronicSNV - 1/9
5-131707429-G-C SLC22A5 c.393+1372G>C - IntronicSNV - 1/9
17-73242935-A-G GGA3 c.41-58T>C - IntronicSNV - 1/16
11-73678945-T-C DNAJB13 c.607-445T>C - IntronicSNV - 5/7
21-38330620-G-A HLCS c.-258+3716C>T - intron_variant - 2/11
16-28545587-G-T NUPR1 c.*3417C>A - 3_prime_UTR_variant 3/3 -
17-79261809-C-T SLC38A10 c.217+1682G>A - IntronicSNV - 2/13
20-34497660-G-C PHF20 c.1562-3511G>C - IntronicSNV - 10/17
14-104428576-C-G TDRD9 c.323-840C>G - IntronicSNV - 2/35
21-42796480-C-G MX1 c.-309+1642C>G - intron_variant - 3/18
15-102252852-A-C TARSL2 c.691-648T>G - IntronicSNV - 4/18
13-114494245-C-T TMEM255B c.253-3876C>T - IntronicSNV - 3/8
16-58160974-A-G CFAP20 c.84+1962T>C - IntronicSNV - 1/5
19-53941947-A-G ZNF761 c.-403-6307A>G - intron_variant - 1/6
19-53941947-A-T ZNF761 c.-403-6307A>T - intron_variant - 1/6
17-15614822-A-T ZNF286A c.334+3261A>T - IntronicSNV - 5/5
7-50435777-T-G IKZF1 c.161-8454T>G - intron_variant - 3/7
7-157163614-A-C DNAJB6 c.346+3437A>C - IntronicSNV - 5/7
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 -
16-5075633-G-A NAGPA c.1394C>T p.Thr465Ile Missense 10/10 -
17-79261809-C-A SLC38A10 c.217+1682G>T - IntronicSNV - 2/13
6-117075632-G-A FAM162B c.391-1774C>T - IntronicSNV - 3/3
6-117075632-G-C FAM162B c.391-1774C>G - IntronicSNV - 3/3
11-10302016-C-G SBF2 c.55+13546G>C - IntronicSNV - 1/39
20-43997646-C-T SYS1 c.*1891C>T - 3-UTRSNV 4/4 -
11-67799926-T-C NDUFS8 c.109+123T>C - IntronicSNV - 3/6
14-25101548-G-A GZMB c.321C>T p.Asn107Asn Synonymous 3/5 -
9-114982549-C-T PTBP3 c.*3582G>A - 3-UTRSNV 14/14 -
2-120120065-C-A C2orf76 c.-216+3868G>T - intron_variant - 1/6
9-128695180-A-T PBX3 c.483-2571A>T - IntronicSNV - 4/8
9-128695180-A-G PBX3 c.483-2571A>G - IntronicSNV - 4/8
1-44790653-T-C ERI3 c.490-5237A>G - IntronicSNV - 3/8
18-21112774-C-G NPC1 c.3755-526G>C - IntronicSNV - 24/24
22-45736153-G-T FAM118A c.1055-114G>T - IntronicSNV - 8/8
22-45736153-G-A FAM118A c.1055-114G>A - IntronicSNV - 8/8
3-42703618-C-T ZBTB47 c.1621+494C>T - IntronicSNV - 3/5
16-57681854-A-G ADGRG1 c.1-2346A>G - IntronicSNV - 2/14
14-100834982-T-C WARS c.99+442A>G - IntronicSNV - 2/10
11-87879075-C-T RAB38 c.483+3768G>A - IntronicSNV - 2/2
20-34751654-T-C EPB41L1 c.-15+8836T>C - intron_variant - 1/21
6-88346369-T-C ORC3 c.953+165T>C - IntronicSNV - 12/18
16-53513055-T-C RBL2 c.2704-11T>C - IntronicSNV - 17/21
5-131322241-G-A ACSL6 c.864+274C>T - IntronicSNV - 8/20
3-39138082-C-T WDR48 c.*1848C>T - IntergenicSNV 19/19 -
7-2781249-G-A GNA12 c.526-8114C>T - IntronicSNV - 2/3
7-2781249-G-C GNA12 c.526-8114C>G - IntronicSNV - 2/3
17-19584085-G-A SLC47A2 c.1500+595C>T - IntronicSNV - 15/16
12-32896944-C-T DNM1L c.*600C>T - 3-UTRSNV 20/20 -
14-35556592-C-A PPP2R3C c.1173+565G>T - IntronicSNV - 12/12
17-7295071-T-C PLSCR3 c.670-957A>G - IntronicSNV - 6/7
11-117726697-G-A FXYD6-FXYD2 c.1-13206C>T - IntronicSNV - 1/10
2-173909659-G-A RAPGEF4 c.2854-3669G>A - IntronicSNV - 29/30
5-10283490-T-C CMBL c.467-1090A>G - IntronicSNV - 4/5
11-88027209-T-G CTSC c.1357A>C p.Ile453Leu Missense 7/7 -
9-131745548-T-C NUP188 c.1797-24T>C - IntronicSNV - 17/43
3-126178390-A-C ZXDC c.2212+106T>G - IntronicSNV - 7/9
22-38060850-G-A PDXP c.575-712G>A - IntronicSNV - 1/1
22-18079518-T-C ATP6V1E1 c.530+1442A>G - IntronicSNV - 7/8
10-101953705-A-C CHUK c.1974+36T>G - IntronicSNV - 18/20
14-74649280-C-T LIN52 c.284-16345C>T - intron_variant - 5/5
16-4798072-C-G C16orf71 c.*446C>G - IntronicSNV - 9/9
3-183494455-G-A YEATS2 c.2577+544G>A - IntronicSNV - 18/30
2-242035146-G-T MTERF4 c.*267C>A - 3-UTRSNV 4/4 -
14-74649280-C-G LIN52 c.284-16345C>G - intron_variant - 5/5
3-183976694-G-T EEF1AKMT4-ECE2 c.480+1150G>T - IntronicSNV - 2/18
11-118892277-C-T TRAPPC4 c.455-193C>T - IntronicSNV - 3/4
7-115897884-C-T TES c.*348C>T - 3-UTRSNV 7/7 -
8-8655023-C-G MFHAS1 c.2999-22G>C - IntronicSNV - 1/2
8-8655023-C-T MFHAS1 c.2999-22G>A - IntronicSNV - 1/2
6-2834416-G-A SERPINB1 c.736-170C>T - IntronicSNV - 6/6
18-9959493-A-G VAPA c.*5285A>G - 3-UTRSNV 7/7 -
6-111904447-A-G TRAF3IP2 c.830-2855T>C - IntronicSNV - 2/8
3-150174510-T-A TSC22D2 c.2031-353T>A - IntronicSNV - 2/3
20-2644407-C-G IDH3B c.118-3G>C - IntronicSNV - 2/11
11-8939887-A-G AKIP1 c.489+973A>G - IntronicSNV - 5/5
19-8389011-C-A KANK3 c.2382+322G>T - IntronicSNV - 10/10
9-131876908-G-A PTPA c.31+2998G>A - IntronicSNV - 2/10
19-50882619-T-G NR1H2 c.636+181T>G - IntronicSNV - 6/8
16-18823607-G-A SMG1 c.10622-158C>T - IntronicSNV - 60/62
19-50882619-T-C NR1H2 c.636+181T>C - IntronicSNV - 6/8
2-231256812-A-G SP140L c.975A>G p.Ala325Ala Synonymous 12/19 -
4-6919674-C-T TBC1D14 c.1-5443C>T - IntronicSNV - 1/13
2-44873409-A-C CAMKMT c.377-58013A>C - IntronicSNV - 3/10
2-231256812-A-C SP140L c.975A>C p.Ala325Ala Synonymous 12/19 -
5-173350405-A-G CPEB4 c.1208-9048A>G - IntronicSNV - 2/9
10-114154815-C-T ACSL5 c.279C>T p.Pro93Pro Synonymous 2/21 -
13-46948548-G-A RUBCNL c.1-1938C>T - IntronicSNV - 2/14
15-78741618-T-C IREB2 c.106+9395T>C - IntronicSNV - 2/21
9-100666931-C-T TRMO c.*84G>A - 3-UTRSNV 5/5 -
5-143557864-C-T KCTD16 c.-327+3829C>T - intron_variant - 2/3
4-1357325-C-G UVSSA c.1177-2783C>G - IntronicSNV - 7/13
6-10528434-A-G GCNT2 c.1-711A>G - IntronicSNV - 2/4
6-150083621-T-C PCMT1 c.230-8677T>C - IntronicSNV - 1/7
1-47033849-T-C MKNK1 c.636+266A>G - intron_variant - 9/13
17-10591573-C-T SCO1 c.656-1414G>A - IntronicSNV - 4/5
22-42982572-C-G POLDIP3 c.1089-598G>C - IntronicSNV - 8/8
15-102252852-A-T TARSL2 c.691-648T>A - IntronicSNV - 4/18
15-49167905-G-C SHC4 c.841-3566C>G - IntronicSNV - 4/11
15-49167905-G-A SHC4 c.841-3566C>T - IntronicSNV - 4/11
12-70811862-A-G KCNMB4 c.465-12403A>G - IntronicSNV - 2/2
20-10432766-G-T SLX4IP c.1-6087G>T - IntronicSNV - 1/7
20-10432766-G-A SLX4IP c.1-6087G>A - IntronicSNV - 1/7
10-112633918-T-C PDCD4 c.1-1868T>C - IntronicSNV - 1/11
1-154233016-G-A UBAP2L c.2579-352G>A - IntronicSNV - 22/26
19-58661581-G-A ZNF329 c.-208+538C>T - intron_variant - 1/3
22-36916156-G-C EIF3D c.578+467C>G - IntronicSNV - 7/14
11-10302016-C-T SBF2 c.55+13546G>A - IntronicSNV - 1/39
7-148004105-C-T CNTNAP2 c.3475+39887C>T - IntronicSNV - 21/23
14-100994045-C-T WDR25 c.1273-1360C>T - IntronicSNV - 5/6
12-120676090-G-A PXN c.14-13910C>T - IntronicSNV - 1/10
8-104067152-A-G ATP6V1C1 c.572+942A>G - IntronicSNV - 7/12
12-14694877-T-C PLBD1 c.419+265A>G - IntronicSNV - 3/10
3-183976694-G-A EEF1AKMT4-ECE2 c.480+1150G>A - IntronicSNV - 2/18
9-97366400-C-T FBP1 c.826-546G>A - IntronicSNV - 6/6
1-153613545-G-A CHTOP c.220-1177G>A - IntronicSNV - 3/5
8-125579990-C-T MTSS1 c.619-571G>A - IntronicSNV - 7/13
11-3173813-T-C OSBPL5 c.-22+12633A>G - intron_variant - 1/20
2-46852033-A-G CRIPT c.*667A>G - 3-UTRSNV 5/5 -
7-148857795-T-C ZNF398 c.1-5548T>C - IntronicSNV - 3/6
10-116588060-C-G FAM160B1 c.46-2551C>G - IntronicSNV - 1/16
10-114159812-G-C ACSL5 c.433+1045G>C - IntronicSNV - 3/20
22-36916156-G-T EIF3D c.578+467C>A - IntronicSNV - 7/14
8-27366401-G-C EPHX2 c.660+1890G>C - IntronicSNV - 5/18
16-27331974-C-G IL4R c.-152+6633C>G - intron_variant - 1/10
10-71910630-G-A SAR1A c.*1602C>T - 3-UTRSNV 8/8 -
2-85780536-C-T GGCX c.974G>A p.Arg325Gln Missense 8/15 -
1-153613545-G-C CHTOP c.220-1177G>C - IntronicSNV - 3/5
15-43652937-A-C ZSCAN29 c.*334T>G - 3-UTRSNV 5/5 -
7-150438799-G-T GIMAP1-GIMAP5 c.656-472G>T - IntronicSNV - 5/5
15-51775909-C-T DMXL2 c.5483-2089G>A - IntronicSNV - 23/42
3-71829242-G-A PROK2 c.222+1376C>T - IntronicSNV - 2/3
4-125615897-T-A ANKRD50 c.512+15258A>T - IntronicSNV - 2/4
7-44098865-C-T DBNL c.839-88C>T - IntronicSNV - 9/12
1-241799538-G-A OPN3 c.373+3646C>T - IntronicSNV - 1/3
7-30536611-T-G GGCT c.*97A>C - 3-UTRSNV 4/4 -
7-30536611-T-C GGCT c.*97A>G - 3-UTRSNV 4/4 -
10-91532238-G-T KIF20B c.5123-208G>T - IntronicSNV - 31/32
12-82839701-G-C METTL25 c.1478+7131G>C - IntronicSNV - 8/11
12-82839701-G-A METTL25 c.1478+7131G>A - IntronicSNV - 8/11
7-21940960-A-G CDCA7L c.*980T>C - 3-UTRSNV 10/10 -
16-56419628-G-A AMFR c.1380+203C>T - IntronicSNV - 10/13
15-81601322-A-G IL16 c.*183A>G - 3-UTRSNV 19/19 -
19-44649590-T-C ZNF234 c.15+790T>C - IntronicSNV - 3/5
19-12774862-G-A MAN2B1 c.631-213C>T - IntronicSNV - 4/23
5-174939214-C-T SFXN1 c.596+15C>T - IntronicSNV - 6/10
1-183940085-C-T COLGALT2 c.628-1478G>A - IntronicSNV - 4/11
17-28236645-A-G SSH2 c.63+20311T>C - IntronicSNV - 1/14
1-169830104-G-T SCYL3 c.1140+1650C>A - IntronicSNV - 10/13
1-169830104-G-C SCYL3 c.1140+1650C>G - IntronicSNV - 10/13
1-169830104-G-A SCYL3 c.1140+1650C>T - IntronicSNV - 10/13
11-60703076-C-G TMEM132A c.2031+161C>G - IntronicSNV - 10/10
3-3193676-A-G CRBN c.1148+464T>C - IntronicSNV - 10/10
11-66335308-T-C CTSF c.312+147A>G - IntronicSNV - 2/12
2-119731468-T-A MARCO c.461-441T>A - IntronicSNV - 4/16
1-6475686-C-T HES2 c.*3247G>A - 3-UTRSNV 4/4 -
19-53451291-T-C ZNF816-ZNF321P c.190+4713A>G - IntronicSNV - 3/3
15-41103293-A-G ZFYVE19 c.796+338A>G - IntronicSNV - 7/11
11-7559930-C-A PPFIBP2 c.1-10777C>A - IntronicSNV - 1/23
5-179697502-T-C MAPK9 c.123-1093A>G - IntronicSNV - 2/6
2-99741984-T-G TSGA10 c.-356+1527A>C - intron_variant - 2/19
6-42932715-C-T PEX6 c.2667-48G>A - IntronicSNV - 15/16
17-7140606-A-G PHF23 c.159+98T>C - IntronicSNV - 3/4
6-10785263-C-G MAK c.1317-458G>C - IntronicSNV - 9/12
6-10785263-C-A MAK c.1317-458G>T - IntronicSNV - 9/12
19-19740729-C-A GMIP c.*43G>T - 3-UTRSNV 21/21 -
19-19740729-C-G GMIP c.*43G>C - 3-UTRSNV 21/21 -
2-61440507-A-T USP34 c.8682+688T>A - IntronicSNV - 68/79
1-151846517-C-T THEM4 c.*847G>A - 3-UTRSNV 6/6 -
3-9854865-A-C ARPC4-TTLL3 c.500-67A>C - IntronicSNV - 5/11
3-9854865-A-G ARPC4-TTLL3 c.500-67A>G - IntronicSNV - 5/11
6-161551218-G-A AGPAT4 c.*6354C>T - 3-UTRSNV 9/9 -
18-71815063-G-C FBXO15 c.-400C>G - 5_prime_UTR_variant 1/10 -
18-71815063-G-A FBXO15 c.-400C>T - 5_prime_UTR_variant 1/10 -
17-38068043-T-C GSDMB c.407+536A>G - IntronicSNV - 2/7
6-160204127-T-C TCP1 c.797+846A>G - IntronicSNV - 7/11
7-65420188-T-C VKORC1L1 c.*901T>C - IntergenicSNV 3/3 -
3-158256567-G-C RSRC1 c.759+1580G>C - IntronicSNV - 8/9
5-102438291-A-G GIN1 c.639+1954T>C - IntronicSNV - 4/7
1-64125439-A-C PGM1 c.*93A>C - 3-UTRSNV 11/11 -
17-76870618-C-A TIMP2 c.131-617G>T - IntronicSNV - 1/4
18-11905953-C-T MPPE1 c.-93+249G>A - intron_variant - 2/10
8-28924858-C-T KIF13B c.*3163G>A - 3-UTRSNV 40/40 -
14-90769635-T-G NRDE2 c.1006-166A>C - IntronicSNV - 5/13
16-69337403-C-T SNTB2 c.*2576C>T - 3-UTRSNV 7/7 -
17-45781264-A-G TBKBP1 c.872+4201A>G - IntronicSNV - 6/8
22-24994966-T-C GGT1 c.1-12083T>C - IntronicSNV - 1/15
6-170891043-A-T PDCD2 c.658+1102T>A - IntronicSNV - 3/5
19-579100-C-T BSG c.416-400C>T - IntronicSNV - 2/8
12-25242595-C-A LRMP c.421C>A p.Leu141Ile Missense 11/21 -
11-47354787-C-T MYBPC3 c.3288G>A p.Glu1096Glu Synonymous 30/35 -
9-6631099-A-G GLDC c.335-10780T>C - IntronicSNV - 2/24
2-105711904-C-T MRPS9 c.930-1709C>T - IntronicSNV - 9/10
5-80169477-A-G MSH3 c.3302+371A>G - IntronicSNV - 23/23
6-44217654-C-A HSP90AB1 c.514+83C>A - IntronicSNV - 4/11
5-94046205-G-T MCTP1 c.2830+318C>A - IntronicSNV - 21/22
16-85818418-A-C EMC8 c.309-3532T>G - IntronicSNV - 2/4
15-52441311-T-C GNB5 c.291+770A>G - IntronicSNV - 3/10
15-52441311-T-G GNB5 c.291+770A>C - IntronicSNV - 3/10
12-45257954-T-A NELL2 c.184+11054A>T - IntronicSNV - 3/20
15-51375075-C-T TNFAIP8L3 c.316+11666G>A - IntronicSNV - 2/2
9-138971241-G-A NACC2 c.-60+15794C>T - intron_variant - 1/5
1-213168190-C-G ANGEL2 c.*193G>C - 3-UTRSNV 9/9 -
1-213168190-C-T ANGEL2 c.*193G>A - 3-UTRSNV 9/9 -
16-87404375-T-A FBXO31 c.341-10403A>T - IntronicSNV - 1/8
16-56504724-G-A OGFOD1 c.1285+21G>A - IntronicSNV - 10/12
5-74149478-T-C FAM169A c.1-11977A>G - IntronicSNV - 1/12
11-62337203-C-G EEF1G c.522+1234G>C - IntronicSNV - 5/9
9-132635944-C-A USP20 c.1695-34C>A - IntronicSNV - 16/25
9-132635944-C-G USP20 c.1695-34C>G - IntronicSNV - 16/25
1-46813967-C-T NSUN4 c.592+1220C>T - IntronicSNV - 3/5
3-16303839-G-A DPH3 c.184-1503C>T - IntronicSNV - 2/2
1-110114229-T-G GNAI3 c.119-2130T>G - IntronicSNV - 1/8
22-19168087-G-A CLTCL1 c.4903+157C>T - IntronicSNV - 31/32
20-4779569-T-A RASSF2 c.60-838A>T - IntronicSNV - 3/11
12-8667897-A-G CLEC4D c.94A>G p.Ser32Gly Missense 2/6 -
1-43317793-G-A ZNF691 c.*309G>A - 3-UTRSNV 2/2 -
19-35652661-G-A FXYD5 c.292+957G>A - IntronicSNV - 5/8
6-44217654-C-G HSP90AB1 c.514+83C>G - IntronicSNV - 4/11
6-44217654-C-T HSP90AB1 c.514+83C>T - IntronicSNV - 4/11
9-100884564-C-A CORO2A c.*2492G>T - 3-UTRSNV 12/12 -
9-32436014-A-G ACO1 c.2100-234A>G - IntronicSNV - 17/20
12-45257954-T-C NELL2 c.184+11054A>G - IntronicSNV - 3/20
1-11900825-G-A CLCN6 c.*545G>A - 3-UTRSNV 23/23 -
11-134130189-C-G ACAD8 c.705+550C>G - IntronicSNV - 6/10
7-129725297-G-T KLHDC10 c.167-11464G>T - IntronicSNV - 1/9
7-134845313-T-G TMEM140 c.1-3881T>G - IntronicSNV - 1/1
16-57567624-C-T CCDC102A c.-148+2788G>A - intron_variant - 1/8
16-57567624-C-G CCDC102A c.-148+2788G>C - intron_variant - 1/8
3-196009099-T-A PCYT1A c.-11+1247A>T - intron_variant - 2/9
11-62337203-C-T EEF1G c.522+1234G>A - IntronicSNV - 5/9
22-42202606-G-A CCDC134 c.1-2289G>A - IntronicSNV - 1/6
20-62549565-G-A DNAJC5 c.1-10134G>A - IntronicSNV - 1/4
22-50318946-C-T CRELD2 c.869-119C>T - IntronicSNV - 8/9
3-151034997-T-C MED12L c.2146-32850T>C - IntronicSNV - 14/42
11-118128445-C-G MPZL2 c.585-417G>C - IntronicSNV - 4/5
6-10620217-T-G GCNT2 c.926-1367T>G - IntronicSNV - 3/4
6-10620217-T-C GCNT2 c.926-1367T>C - IntronicSNV - 3/4
2-219260651-C-T SLC11A1 c.*893C>T - 3-UTRSNV 15/15 -
15-63340227-G-A TPM1 c.240+3876G>A - IntronicSNV - 2/8
2-219260651-C-G SLC11A1 c.*893C>G - 3-UTRSNV 15/15 -
1-112042149-C-T ADORA3 c.*423G>A - 3-UTRSNV 2/2 -
3-3205432-G-T CRBN c.687+3886C>A - IntronicSNV - 5/10
3-3205432-G-C CRBN c.687+3886C>G - IntronicSNV - 5/10
15-44058634-G-T PDIA3 c.846-292G>T - IntronicSNV - 7/12
15-42126435-T-C JMJD7 c.65-503T>C - IntronicSNV - 1/7
17-4931553-G-T KIF1C c.*4107G>T - 3-UTRSNV 23/23 -
11-34467538-G-A CAT c.67-3201G>A - IntronicSNV - 1/12
22-19479104-A-C CDC45 c.487-2746A>C - IntronicSNV - 5/18
22-19479104-A-T CDC45 c.487-2746A>T - IntronicSNV - 5/18
17-73461930-T-A TMEM94 c.1-6057T>A - IntronicSNV - 1/31
12-122671472-C-A LRRC43 c.-34+625C>A - intron_variant - 3/11
3-125783844-G-T SLC41A3 c.273+2946C>A - IntronicSNV - 2/10
12-122671472-C-G LRRC43 c.-34+625C>G - intron_variant - 3/11
15-85191274-C-G WDR73 c.288-89G>C - IntronicSNV - 4/7
19-34800598-G-A KIAA0355 c.495+8725G>A - IntronicSNV - 2/13
17-29671327-G-A NF1 c.7126+1174G>A - IntronicSNV - 47/56
20-46153148-G-A NCOA3 c.-99+22385G>A - intron_variant - 1/22
3-119923018-G-A GPR156 c.234-10747C>T - IntronicSNV - 2/8
20-42553993-T-C TOX2 c.-28+9145T>C - intron_variant - 1/8
3-49570882-T-C DAG1 c.*250T>C - 3-UTRSNV 6/6 -
9-132377728-C-T C9orf50 c.880+35G>A - IntronicSNV - 4/6
16-28988269-C-T SPNS1 c.308-960C>T - IntronicSNV - 2/11
2-99732741-G-A TSGA10 c.-140+1266C>T - intron_variant - 3/19
3-125751632-T-C SLC41A3 c.453+818A>G - IntronicSNV - 4/10
7-141540548-T-C PRSS37 c.34+268A>G - IntronicSNV - 1/4
22-30692353-A-T TBC1D10A c.418-521T>A - IntronicSNV - 3/8
6-130349119-C-T L3MBTL3 c.-16+5669C>T - intron_variant - 2/22
7-95063702-T-G PON2 c.74+488A>C - IntronicSNV - 1/8
1-36935128-G-A CSF3R c.1474+125C>T - IntronicSNV - 11/16
5-6618186-T-G NSUN2 c.816-49A>C - IntronicSNV - 7/18
5-115175701-G-A ATG12 c.163+1386C>T - IntronicSNV - 1/3
12-7900184-C-T CLEC4C c.1-240G>A - IntronicSNV - 1/5
19-10227149-C-T EIF3G c.595+327G>A - IntronicSNV - 7/10
10-127483573-G-A UROS c.562-26C>T - IntronicSNV - 8/9
9-134529936-A-C RAPGEF1 c.11-3600T>G - IntronicSNV - 1/23
12-7900184-C-A CLEC4C c.1-240G>T - IntronicSNV - 1/5
6-42159132-C-G GUCA1B c.208-2663G>C - IntronicSNV - 1/3
8-32432369-G-C NRG1 c.38-20977G>C - IntronicSNV - 1/11
2-218709215-T-G TNS1 c.2632+3018A>C - IntronicSNV - 17/32
2-218709215-T-C TNS1 c.2632+3018A>G - IntronicSNV - 17/32
2-218709215-T-A TNS1 c.2632+3018A>T - IntronicSNV - 17/32
20-33626216-C-A TRPC4AP c.866-3105G>T - IntronicSNV - 7/18
16-89596106-C-T SPG7 c.861+119C>T - IntronicSNV - 6/16
12-94160951-A-G CRADD c.299-82795A>G - IntronicSNV - 2/2
19-881161-G-A MED16 c.1141+398C>T - IntronicSNV - 7/15
10-114164146-T-G ACSL5 c.434-123T>G - IntronicSNV - 3/20
15-75107880-A-G LMAN1L c.176-618A>G - IntronicSNV - 1/13
6-10723449-A-C TMEM14C c.-70A>C - 5_prime_UTR_variant 1/6 -
13-77454481-A-G KCTD12 c.*4825T>C - 3-UTRSNV 1/1 -
15-75107880-A-C LMAN1L c.176-618A>C - IntronicSNV - 1/13
10-14716516-T-C FAM107B c.412-6826A>G - IntronicSNV - 1/4
18-43317005-T-C SLC14A1 c.663+392T>C - IntronicSNV - 6/9
18-43317005-T-G SLC14A1 c.663+392T>G - IntronicSNV - 6/9
2-85866118-T-A USP39 c.1096-208T>A - IntronicSNV - 8/12
2-172877507-T-C METAP1D c.40+12591T>C - IntronicSNV - 1/9
11-2925915-T-C SLC22A18 c.144+1196T>C - IntronicSNV - 2/10
5-64908111-T-G TRIM23 c.367-403A>C - IntronicSNV - 3/10
17-58325868-A-G USP32 c.1136+3874T>C - IntronicSNV - 11/33
17-78061353-G-A CCDC40 c.2450-53G>A - IntronicSNV - 14/17
5-179177271-C-T MAML1 c.316-15056C>T - IntronicSNV - 1/4
2-103054556-G-A IL18RAP c.730+734G>A - IntronicSNV - 6/11
2-160123080-C-A WDSUB1 c.770+5133G>T - IntronicSNV - 5/10
3-23990414-A-G NR1D2 c.-210+2670A>G - intron_variant - 1/7
9-127849318-A-C SCAI c.99-20981T>G - IntronicSNV - 2/18
4-4316736-C-T ZBTB49 c.1377-627C>T - IntronicSNV - 5/7
7-73246555-C-T CLDN4 c.*394C>T - 3-UTRSNV 1/1 -
20-49520193-C-T ADNP c.108+233G>A - IntronicSNV - 2/3
2-68598903-C-T PLEK c.42+6378C>T - IntronicSNV - 1/8
20-35048595-T-C DLGAP4 c.1-11526T>C - IntronicSNV - 2/12
11-440343-A-C ANO9 c.6+1578T>G - IntronicSNV - 1/22
16-3115628-A-C IL32 c.-29+133A>C - intron_variant - 1/6
16-3115628-A-T IL32 c.-29+133A>T - intron_variant - 1/6
7-107143866-A-G COG5 c.631+23816T>C - IntronicSNV - 6/20
15-91353584-C-T BLM c.3875-851C>T - IntronicSNV - 20/21
2-121031695-G-A RALB c.1-4546G>A - IntronicSNV - 1/4
1-162480568-C-T UHMK1 c.849-1722C>T - IntronicSNV - 4/7
7-106874065-G-C COG5 c.2184+2830C>G - IntronicSNV - 18/20
7-106874065-G-A COG5 c.2184+2830C>T - IntronicSNV - 18/20
15-77622006-G-A PEAK1 c.-477-43160C>T - intron_variant - 1/7
14-51193213-A-T NIN c.6079-429T>A - IntronicSNV - 29/29
17-7406134-A-T POLR2A c.2756+114A>T - IntronicSNV - 16/28
17-7406134-A-G POLR2A c.2756+114A>G - IntronicSNV - 16/28
12-21601631-A-G PYROXD1 c.286-866A>G - IntronicSNV - 3/11
9-116136993-T-A HDHD3 c.1-359A>T - IntronicSNV - 1/1
1-220972328-G-C MARC1 c.753+972G>C - IntronicSNV - 4/6
1-220972328-G-T MARC1 c.753+972G>T - IntronicSNV - 4/6
3-36911597-T-C TRANK1 c.946+4020A>G - IntronicSNV - 8/22
6-148710800-A-G SASH1 c.157-470A>G - IntronicSNV - 1/19
19-55378008-C-G KIR3DL2 c.1139C>G p.Thr380Arg Missense 8/8 -
10-121605673-C-G MCMBP c.827+1452G>C - IntronicSNV - 8/15
17-79979504-T-C CENPX c.36+1198A>G - IntronicSNV - 1/3
12-122405912-G-C WDR66 c.2608G>C p.Val870Leu Missense 17/22 -
15-64957098-G-C ZNF609 c.974-5447G>C - IntronicSNV - 3/9
1-53344976-C-T ZYG11A c.1749+1335C>T - IntronicSNV - 10/13
20-25595123-G-A NANP c.*1438C>T - 3-UTRSNV 2/2 -
2-105997385-A-G FHL2 c.156+5433T>C - IntronicSNV - 3/6
22-21099478-A-G PI4KA c.3364-470T>C - IntronicSNV - 29/54
4-6876569-G-A KIAA0232 c.3911-1818G>A - IntronicSNV - 8/9
16-3115628-A-G IL32 c.-29+133A>G - intron_variant - 1/6
9-130215279-G-A LRSAM1 c.-33+916G>A - intron_variant - 1/24
6-131926334-C-T MED23 c.1613+46G>A - IntronicSNV - 14/29
17-1636477-C-T WDR81 c.1337-344C>T - IntronicSNV - 7/10
2-10546236-C-A HPCAL1 c.-25+9190C>A - intron_variant - 2/4
10-126675365-T-G CTBP2 c.*2722A>C - IntergenicSNV 11/11 -
15-77622006-G-T PEAK1 c.-477-43160C>A - intron_variant - 1/7
17-76132692-T-C TMC8 c.1128-624T>C - IntronicSNV - 9/15
19-7691949-A-G XAB2 c.522+180T>C - IntronicSNV - 4/18
12-66648328-A-T IRAK3 c.*6377A>T - 3-UTRSNV 11/11 -
16-766485-G-C METRN c.506-448G>C - IntronicSNV - 2/3
21-35056247-G-A ITSN1 c.1-34887G>A - IntronicSNV - 1/39
1-158814382-G-A MNDA c.570+470G>A - IntronicSNV - 4/6
3-185331165-C-A SENP2 c.902C>A p.Thr301Lys Missense 10/17 -
2-33762963-A-G RASGRP3 c.1162-1201A>G - IntronicSNV - 10/16
16-23694732-G-C PLK1 c.817-459G>C - IntronicSNV - 4/9
11-35242285-C-A CD44 c.1946-916C>A - IntronicSNV - 16/17
17-40017491-G-A KLHL11 c.545+3588C>T - IntronicSNV - 1/1
11-62328038-T-C EEF1G c.858-112A>G - IntronicSNV - 7/9
6-46631886-A-G SLC25A27 c.507-625A>G - IntronicSNV - 4/8
19-11688460-T-C ACP5 c.-53A>G - 5_prime_UTR_variant 2/6 -
11-93216676-G-C SMCO4 c.1-4321C>G - IntronicSNV - 1/2
11-93216676-G-T SMCO4 c.1-4321C>A - IntronicSNV - 1/2
5-150435480-C-G TNIP1 c.627+847G>C - IntronicSNV - 6/17
15-63616479-C-G CA12 c.*2005G>C - 3-UTRSNV 11/11 -
12-109890080-G-C KCTD10 c.724-462C>G - IntronicSNV - 6/6
11-60783108-C-T CD6 c.1388-77C>T - IntronicSNV - 8/12
11-85421392-A-T SYTL2 c.5745+764T>A - intron_variant - 13/19
1-160779495-G-T LY9 c.455-3931G>T - IntronicSNV - 2/9
20-23355423-C-T NAPB c.*2590G>A - 3-UTRSNV 11/11 -
1-160779495-G-C LY9 c.455-3931G>C - IntronicSNV - 2/9
9-15296450-T-G TTC39B c.240+10632A>C - IntronicSNV - 1/19
3-41243742-T-G CTNNB1 c.-49+2581T>G - intron_variant - 1/15
3-135851077-A-C PPP2R3A c.3330-12808A>C - IntronicSNV - 13/13
9-15296450-T-A TTC39B c.240+10632A>T - IntronicSNV - 1/19
17-43131480-A-T DCAKD c.-115+6776T>A - intron_variant - 1/4
7-143082027-T-C ZYX c.1023+1612T>C - IntronicSNV - 5/9
20-44412463-G-C WFDC3 c.358+4012C>G - IntronicSNV - 4/6
16-21173940-C-T TMEM159 c.96+1341C>T - IntronicSNV - 2/4
3-112265776-T-C ATG3 c.343+1604A>G - IntronicSNV - 5/11
5-74998426-G-A POC5 c.438+4C>T - IntronicSNV - 4/10
19-19105773-G-A SUGP2 c.3128+180C>T - IntronicSNV - 9/10
9-138913683-C-T NACC2 c.887-5408G>A - IntronicSNV - 2/5
6-35962978-T-C SLC26A8 c.628-2527A>G - IntronicSNV - 5/19
19-1271529-C-T CIRBP c.350-21C>T - IntronicSNV - 4/6
7-2808517-T-C GNA12 c.525+26045A>G - IntronicSNV - 2/3
2-203507663-C-T FAM117B c.601+7152C>T - IntronicSNV - 1/7
19-17412399-G-A ABHD8 c.27C>T p.Ile9Ile Synonymous 2/5 -
12-27130165-C-A TM7SF3 c.1190-875G>T - IntronicSNV - 9/11
5-138249940-C-T CTNNA1 c.1390-3491C>T - IntronicSNV - 10/17
15-92399657-G-T SLCO3A1 c.180+2339G>T - IntronicSNV - 1/9
16-115072-A-T RHBDF1 c.1-59T>A - IntronicSNV - 1/17
6-160976148-A-G LPA c.4973+909T>C - IntronicSNV - 30/38
11-65631973-G-A MUS81 c.1065G>A p.Arg355Arg Synonymous 11/16 -
3-49291883-C-G CCDC36 c.533-940C>G - IntronicSNV - 8/9
11-75215421-A-C GDPD5 c.-144-14056T>G - intron_variant - 1/16
2-118575215-C-T DDX18 c.281C>T p.Thr94Ile Missense 2/14 -
21-48069930-T-A PRMT2 c.654+279T>A - IntronicSNV - 6/10
11-60703076-C-T TMEM132A c.2031+161C>T - IntronicSNV - 10/10
8-87387951-A-G WWP1 c.70+1602A>G - IntronicSNV - 3/24
2-220165763-T-C PTPRN c.1127-64A>G - IntronicSNV - 7/21
12-42766713-C-T PPHLN1 c.321-1952C>T - IntronicSNV - 5/10
4-185591444-C-T PRIMPOL c.557-1883C>T - IntronicSNV - 6/13
1-162352941-G-A C1orf226 c.318-31G>A - IntronicSNV - 1/1
17-73509541-C-G CASKIN2 c.94+251G>C - IntronicSNV - 2/19
16-12760767-A-G CPPED1 c.716-1795T>C - IntronicSNV - 3/3
16-12760767-A-T CPPED1 c.716-1795T>A - IntronicSNV - 3/3
8-144607145-C-G ZC3H3 c.1561+11282G>C - IntronicSNV - 3/11
1-38031105-T-A DNALI1 c.*443T>A - 3-UTRSNV 6/6 -
4-185314413-G-C IRF2 c.695-2510C>G - IntronicSNV - 7/8
15-75890612-G-A SNUPN c.*87C>T - 3-UTRSNV 9/9 -
2-99732741-G-T TSGA10 c.-140+1266C>A - intron_variant - 3/19
17-74774825-C-G MFSD11 c.*391C>G - 3-UTRSNV 14/14 -
11-60152531-A-T MS4A7 c.148-30A>T - IntronicSNV - 2/6
11-60152531-A-C MS4A7 c.148-30A>C - IntronicSNV - 2/6
12-697095-C-G NINJ2 c.34-21751G>C - intron_variant - 1/3
21-46335580-T-A ITGB2 c.1-4883A>T - IntronicSNV - 1/15
12-125332955-T-C SCARB1 c.126+15186A>G - IntronicSNV - 1/12
12-125332955-T-A SCARB1 c.126+15186A>T - IntronicSNV - 1/12
6-73969722-C-A KHDC1 c.-14+2775G>T - intron_variant - 1/3
6-73969722-C-G KHDC1 c.-14+2775G>C - intron_variant - 1/3
19-887128-A-G MED16 c.448-927T>C - IntronicSNV - 4/15
17-38182844-T-C MED24 c.1809+56A>G - IntronicSNV - 18/25
19-55378008-C-T KIR3DL2 c.1139C>T p.Thr380Met Missense 8/8 -
7-28719253-T-C CREB5 c.444-39117T>C - IntronicSNV - 5/10
19-35498890-C-T GRAMD1A c.9-1133C>T - IntronicSNV - 1/19
12-697095-C-T NINJ2 c.34-21751G>A - intron_variant - 1/3
21-46335580-T-C ITGB2 c.1-4883A>G - IntronicSNV - 1/15
12-118501565-T-C VSIG10 c.*2879A>G - 3-UTRSNV 9/9 -
15-86218767-C-G AKAP13 c.5101+5706C>G - IntronicSNV - 14/36
17-15412809-G-A TVP23C-CDRT4 c.462+36290C>T - IntronicSNV - 5/6
6-73969722-C-T KHDC1 c.-14+2775G>A - intron_variant - 1/3
2-215618363-G-A BARD1 c.1569-1084C>T - IntronicSNV - 6/10
19-887128-A-C MED16 c.448-927T>G - IntronicSNV - 4/15
1-44438974-C-T DPH2 c.*763C>T - 3-UTRSNV 6/6 -
5-137493528-T-C BRD8 c.2797-572A>G - IntronicSNV - 21/21
9-5383460-C-A PLGRKT c.82-21572G>T - IntronicSNV - 3/5
9-5383460-C-T PLGRKT c.82-21572G>A - IntronicSNV - 3/5
9-5383460-C-G PLGRKT c.82-21572G>C - IntronicSNV - 3/5
16-312635-T-C FAM234A c.971+83T>C - IntronicSNV - 8/12
12-8188597-T-C FOXJ2 c.-15+2168T>C - intron_variant - 1/10
6-158506476-G-A SYNJ2 c.3208+1270G>A - IntronicSNV - 22/26
1-212550531-C-T TMEM206 c.783+373G>A - IntronicSNV - 6/7
9-130221388-T-C LRSAM1 c.321+38T>C - IntronicSNV - 6/24
4-47950387-A-G CNGA1 c.299+1463T>C - IntronicSNV - 6/10
9-91929573-T-A CKS2 c.60-512T>A - IntronicSNV - 1/2
1-28555426-G-A DNAJC8 c.180+7C>T - IntronicSNV - 2/8
5-10680997-G-A DAP c.*171C>T - 3-UTRSNV 4/4 -
19-23572497-A-T ZNF91 c.30+5630T>A - IntronicSNV - 1/3
15-50353277-T-A ATP8B4 c.87+13047A>T - IntronicSNV - 3/27
1-151744928-T-A TDRKH c.*40-466A>T - intron_variant - 13/13
11-118943433-A-G VPS11 c.882-475A>G - intron_variant - 6/16
6-88226641-A-G RARS2 c.1512-43T>C - IntronicSNV - 17/19
14-55348373-G-A GCH1 c.344-16219C>T - IntronicSNV - 1/5
2-223802386-C-G ACSL3 c.2005+2981C>G - IntronicSNV - 16/16
10-105610326-G-A SH3PXD2A c.72+4627C>T - IntronicSNV - 1/13
8-30665278-T-C PPP2CB c.102+4558A>G - IntronicSNV - 1/6
1-185052427-C-G RNF2 c.1-4259C>G - IntronicSNV - 1/6
19-1038222-C-T CNN2 c.*323C>T - 3-UTRSNV 7/7 -
15-81221771-T-C CEMIP c.2612+256T>C - IntronicSNV - 20/28
3-20215250-A-T SGO1 c.476-2526T>A - IntronicSNV - 5/7
5-39377418-G-A DAB2 c.1505-34C>T - IntronicSNV - 11/14
6-42133099-T-C GUCA1A c.-282+2266T>C - intron_variant - 2/5
8-23291244-G-A ENTPD4 c.1623-577C>T - IntronicSNV - 12/12
8-99305363-G-A NIPAL2 c.135+868C>T - IntronicSNV - 1/11
7-38229107-A-G STARD3NL c.-59+11085A>G - intron_variant - 1/8
13-22088201-T-C MICU2 c.663+291A>G - IntronicSNV - 7/11
2-29005870-C-T PPP1CB c.521-903C>T - IntronicSNV - 4/7
16-69367996-C-A COG8 c.1413+428G>T - IntronicSNV - 3/5
10-71929746-C-T SAR1A c.-87+423G>A - intron_variant - 1/7
16-31083243-A-G ZNF668 c.-23+1737T>C - intron_variant - 1/2
2-63072430-G-C EHBP1 c.635-13111G>C - IntronicSNV - 7/24
17-40262472-A-G DHX58 c.561+269T>C - IntronicSNV - 5/13
11-68499026-T-C TESMIN c.917+7142A>G - IntronicSNV - 6/9
17-56688789-T-G TEX14 c.1024-89A>C - IntronicSNV - 9/32
14-39623533-T-C TRAPPC6B c.268-2490A>G - IntronicSNV - 3/4
7-1530436-T-C INTS1 c.2166-1118A>G - IntronicSNV - 16/47
17-40514201-A-G STAT3 c.1-13667T>C - IntronicSNV - 1/23
11-47393638-T-C SPI1 c.142+3546A>G - IntronicSNV - 2/4
19-45372329-A-G NECTIN2 c.479-2781A>G - IntronicSNV - 2/5
1-7994420-A-G TNFRSF9 c.544+653T>C - IntronicSNV - 6/7
8-145037573-T-A PLEC c.193+11772A>T - IntronicSNV - 2/32
5-112347828-A-G DCP2 c.1100-1190A>G - IntronicSNV - 10/10
15-44057045-A-G PDIA3 c.603-603A>G - IntronicSNV - 5/12
12-50537815-A-G CERS5 c.223T>C p.Cys75Arg Missense 2/10 -
22-19927146-A-C TXNRD2 c.103+2078T>G - IntronicSNV - 1/17
17-1657073-T-C SERPINF2 c.1064-343T>C - IntronicSNV - 9/9
15-99496248-C-T IGF1R c.3723-4042C>T - IntronicSNV - 20/20
9-95859739-T-C CARD19 c.7+1105T>C - IntronicSNV - 1/5
5-156664822-T-C ITK c.769-297T>C - IntronicSNV - 8/16
9-139316916-G-A PMPCA c.1408+488G>A - IntronicSNV - 12/12
19-630844-C-G POLRMT c.194-676G>C - IntronicSNV - 2/20
7-77351705-G-C RSBN1L c.587-14022G>C - IntronicSNV - 1/7
6-45171362-T-C SUPT3H c.135-97619A>G - IntronicSNV - 4/12
10-71929746-C-G SAR1A c.-87+423G>C - intron_variant - 1/7
10-71929746-C-A SAR1A c.-87+423G>T - intron_variant - 1/7
12-31595064-T-G DENND5B c.2012+645A>C - IntronicSNV - 7/20
11-18371560-A-G GTF2H1 c.1054-1868A>G - IntronicSNV - 9/14
11-18371560-A-C GTF2H1 c.1054-1868A>C - IntronicSNV - 9/14
19-19459215-C-T MAU2 c.1309-483C>T - IntronicSNV - 13/18
20-42809317-A-T JPH2 c.379+5650T>A - IntronicSNV - 1/5
19-17395055-C-G ANKLE1 c.1356C>G - synonymous_variant 6/9 -
17-37976469-C-T IKZF3 c.163+9171G>A - IntronicSNV - 3/7
12-6164455-C-T VWF c.1945+1568G>A - IntronicSNV - 15/51
19-17426501-T-G DDA1 c.137-242T>G - IntronicSNV - 3/4
11-68499026-T-A TESMIN c.917+7142A>T - IntronicSNV - 6/9
15-50353277-T-G ATP8B4 c.87+13047A>C - IntronicSNV - 3/27
19-19103986-T-A SUGP2 c.*564A>T - 3_prime_UTR_variant 11/11 -
17-78076592-A-C GAA c.-33+903A>C - intron_variant - 1/19
14-66020071-A-T FUT8 c.-286-62625A>T - intron_variant - 2/9
18-13029068-T-G CEP192 c.1051-594T>G - IntronicSNV - 9/44
14-66020071-A-C FUT8 c.-286-62625A>C - intron_variant - 2/9
11-119005485-C-T HINFP c.*277C>T - 3-UTRSNV 11/11 -
20-32295541-C-T PXMP4 c.610G>A p.Val204Ile Missense 4/4 -
7-158577277-G-C ESYT2 c.747+3418C>G - intron_variant - 6/21
2-30677275-A-G LCLAT1 c.1-5204A>G - IntronicSNV - 1/6
10-23396191-A-C MSRB2 c.220-2980A>C - IntronicSNV - 2/4
11-94212048-C-T MRE11 c.403-6G>A - IntronicSNV - 5/19
18-13029068-T-A CEP192 c.1051-594T>A - IntronicSNV - 9/44
11-126081336-T-C RPUSD4 c.189+9A>G - IntronicSNV - 1/6
4-44626806-C-T YIPF7 c.499-7G>A - IntronicSNV - 4/5
4-44626806-C-A YIPF7 c.499-7G>T - IntronicSNV - 4/5
14-96006016-G-A GLRX5 c.296-4268G>A - IntronicSNV - 1/1
2-102618370-A-G IL1R2 c.1-6668A>G - IntronicSNV - 1/8
14-96006016-G-T GLRX5 c.296-4268G>T - IntronicSNV - 1/1
20-24951486-G-A APMAP c.539-479C>T - IntronicSNV - 5/8
17-71057553-T-C SLC39A11 c.147+23394A>G - IntronicSNV - 3/9
17-71057553-T-A SLC39A11 c.147+23394A>T - IntronicSNV - 3/9
7-100004543-T-C ZCWPW1 c.1066-122A>G - IntronicSNV - 11/17
11-126078285-C-T RPUSD4 c.557+1131G>A - IntronicSNV - 3/6
1-207854484-G-T CR1L c.378-2733G>T - IntronicSNV - 3/11
17-79246605-A-G SLC38A10 c.913-178T>C - IntronicSNV - 8/13
11-126078285-C-G RPUSD4 c.557+1131G>C - IntronicSNV - 3/6
22-18211205-T-C BCL2L13 c.*905T>C - 3-UTRSNV 7/7 -
22-30393544-C-G MTMR3 c.461-1206C>G - IntronicSNV - 7/19
1-110148974-C-A GNAT2 c.546G>T p.Thr182Thr Synonymous 5/8 -
1-110148974-C-T GNAT2 c.546G>A p.Thr182Thr Synonymous 5/8 -
9-27196119-T-G TEK c.1625-1194T>G - IntronicSNV - 11/22
1-110260742-T-C GSTM5 c.*694T>C - 3-UTRSNV 8/8 -
7-22857477-T-C TOMM7 c.152+142A>G - IntronicSNV - 2/2
16-55604128-A-T LPCAT2 c.1216-4415A>T - IntronicSNV - 11/13
16-536686-C-T RAB11FIP3 c.1116-2165C>T - IntronicSNV - 4/13
22-35806238-G-T MCM5 c.753-499G>T - IntronicSNV - 6/16
5-77057496-G-T TBCA c.53+14533C>A - IntronicSNV - 1/3
1-33724895-C-T ZNF362 c.-89+2640C>T - intron_variant - 1/8
5-77057496-G-A TBCA c.53+14533C>T - IntronicSNV - 1/3
3-66294095-G-A SLC25A26 c.300+359G>A - intron_variant - 4/10
21-30458564-G-A MAP3K7CL c.57+326G>A - IntronicSNV - 4/9
16-2945248-G-A FLYWCH2 c.-172G>A - 5_prime_UTR_variant 2/4 -
2-99075817-G-C INPP4A c.-166+14269G>C - intron_variant - 1/25
17-76416825-G-A PGS1 c.*1079G>A - IntronicSNV - 9/9
13-114194566-A-G TMCO3 c.1690+744A>G - IntronicSNV - 10/12
8-20021889-G-A SLC18A1 c.1015+491C>T - IntronicSNV - 11/16
3-32346116-A-T CMTM8 c.148-52749A>T - IntronicSNV - 1/3
3-32346116-A-G CMTM8 c.148-52749A>G - IntronicSNV - 1/3
2-202035064-G-C CFLAR c.*6368G>C - 3-UTRSNV 10/10 -
2-202035064-G-A CFLAR c.*6368G>A - 3-UTRSNV 10/10 -
11-5642001-T-C TRIM6-TRIM34 c.985+10210T>C - IntronicSNV - 7/13
10-127509294-G-C UROS c.-27+2304C>G - intron_variant - 1/9
1-20961551-G-A PINK1 c.387+1123G>A - IntronicSNV - 1/7
4-141933097-T-C RNF150 c.485-44070A>G - IntronicSNV - 1/6
3-139393482-T-A NMNAT3 c.-103+3065A>T - intron_variant - 1/4
1-111682307-G-C DRAM2 c.-79+353C>G - intron_variant - 1/8
9-35060302-T-C VCP c.1695+8A>G - IntronicSNV - 13/16
9-35060302-T-A VCP c.1695+8A>T - IntronicSNV - 13/16
18-43797564-A-G C18orf25 c.715+1003A>G - IntronicSNV - 2/4
19-17660300-G-A FAM129C c.1807G>A p.Gly603Ser Missense 15/16 -
19-17660300-G-C FAM129C c.1807G>C p.Gly603Arg Missense 15/16 -
8-17555029-G-C MTUS1 c.2624-12978C>G - IntronicSNV - 6/14
3-58376639-C-A PXK c.467-235C>A - IntronicSNV - 5/17
5-75707153-C-A IQGAP2 c.46+7737C>A - IntronicSNV - 1/35
9-37520894-A-G FBXO10 c.2200+672T>C - IntronicSNV - 8/10
9-37520894-A-T FBXO10 c.2200+672T>A - IntronicSNV - 8/10
16-66673183-T-C CMTM4 c.187-2699A>G - IntronicSNV - 1/4
16-66673183-T-A CMTM4 c.187-2699A>T - IntronicSNV - 1/4
9-136235100-G-C SURF4 c.49-779C>G - IntronicSNV - 1/5
21-47960547-G-A DIP2A c.2036+643G>A - IntronicSNV - 17/37
8-101174186-A-C SPAG1 c.1-323A>C - IntronicSNV - 1/18
10-112633918-T-A PDCD4 c.1-1868T>A - IntronicSNV - 1/11
19-35767866-T-C USF2 c.728-1735T>C - IntronicSNV - 7/9
4-76580894-G-A G3BP2 c.545+58C>T - IntronicSNV - 6/11
15-85198891-T-C NMB c.331-251A>G - IntronicSNV - 2/2
1-159785425-A-G FCRL6 c.1279A>G p.Ser427Gly Missense 10/10 -
16-66559446-A-T TK2 c.356+3451T>A - IntronicSNV - 6/9
2-127414661-C-G GYPC c.49+773C>G - IntronicSNV - 1/3
7-139693170-T-A TBXAS1 c.1135-13721T>A - intron_variant - 9/12
7-139693170-T-C TBXAS1 c.1135-13721T>C - intron_variant - 9/12
7-5545427-T-A FBXL18 c.19-166A>T - IntronicSNV - 1/4
18-29693522-A-C RNF138 c.277-186A>C - IntronicSNV - 3/7
17-17179481-G-A COPS3 c.1-8C>T - IntronicSNV - 1/11
6-7601776-G-A SNRNP48 c.595+19G>A - IntronicSNV - 5/8
7-56173628-C-G CHCHD2 c.50+429G>C - IntronicSNV - 1/3
19-54664752-A-T TMC4 c.1854T>A p.Leu618Leu Synonymous 13/15 -
3-194371496-G-C LSG1 c.1419+114C>G - IntronicSNV - 10/13
3-194371496-G-A LSG1 c.1419+114C>T - IntronicSNV - 10/13
19-52270087-C-G FPR2 c.1-1825C>G - IntronicSNV - 1/1
20-60912683-T-C LAMA5 c.2127A>G p.Thr709Thr Synonymous 16/80 -
16-9215165-A-G C16orf72 c.*4396A>G - IntergenicSNV 4/4 -
22-41606030-A-C L3MBTL2 c.262+93A>C - IntronicSNV - 2/16
8-17931091-C-T ASAH1 c.173+1959G>A - IntronicSNV - 2/13
3-44854563-A-G KIF15 c.2278-4A>G - IntronicSNV - 18/34
11-18121539-G-A SAAL1 c.250-3138C>T - IntronicSNV - 2/11
16-1522176-A-G CLCN7 c.141+2659T>C - IntronicSNV - 1/24
16-84068625-C-A SLC38A8 c.389-1551G>T - IntronicSNV - 2/9
9-103065265-G-A TEX10 c.2676+649C>T - IntronicSNV - 14/14
9-123163476-C-T CDK5RAP2 c.5308-313G>A - IntronicSNV - 34/37
20-57832984-G-T ZNF831 c.*3186G>T - 3-UTRSNV 5/5 -
9-139401504-G-A NOTCH1 c.3644-79C>T - IntronicSNV - 22/33
20-57578508-T-C CTSZ c.308-1809A>G - IntronicSNV - 2/5
1-226036309-A-G TMEM63A c.2188-54T>C - IntronicSNV - 22/24
1-201117858-C-G TMEM9 c.159-1882G>C - IntronicSNV - 3/5
8-38110215-T-C DDHD2 c.1618-25T>C - IntronicSNV - 13/17
7-128645292-A-C TNPO3 c.553-79T>G - IntronicSNV - 4/22
19-44490042-A-G ZNF155 c.-86+1568A>G - intron_variant - 1/4
12-56928777-T-C RBMS2 c.66+12904T>C - IntronicSNV - 1/13
7-158468437-G-A NCAPG2 c.1147-89C>T - IntronicSNV - 11/27
14-31161417-A-G SCFD1 c.1042-2562A>G - IntronicSNV - 13/23
10-105175131-T-C PDCD11 c.1518+223T>C - IntronicSNV - 12/35
14-31161417-A-T SCFD1 c.1042-2562A>T - IntronicSNV - 13/23
10-75601653-A-T CAMK2G c.946+274T>A - IntronicSNV - 12/20
17-16329815-G-A TRPV2 c.1096-221G>A - IntronicSNV - 6/14
10-120448570-A-G CACUL1 c.1025+2207T>C - IntronicSNV - 7/8
3-93597667-A-G PROS1 c.1644+340T>C - IntronicSNV - 13/14
8-82614003-A-G ZFAND1 c.*927T>C - 3-UTRSNV 8/8 -
8-82614003-A-C ZFAND1 c.*927T>G - 3-UTRSNV 8/8 -
3-93597667-A-T PROS1 c.1644+340T>A - IntronicSNV - 13/14
3-122478815-T-C HSPBAP1 c.433-608A>G - IntronicSNV - 3/7
3-93597667-A-C PROS1 c.1644+340T>G - IntronicSNV - 13/14
12-72248742-T-G TBC1D15 c.30+15151T>G - IntronicSNV - 1/17
20-49172235-C-T PTPN1 c.1-9336C>T - IntronicSNV - 1/8
11-60698465-G-A TMEM132A c.1016+334G>A - IntronicSNV - 5/10
12-121680460-G-C CAMKK2 c.1554-1788C>G - IntronicSNV - 15/15
12-121680460-G-A CAMKK2 c.1554-1788C>T - IntronicSNV - 15/15
11-8762162-T-G ST5 c.81-9406A>C - IntronicSNV - 5/22
19-17421232-C-T DDA1 c.3+766C>T - IntronicSNV - 1/4
3-88101551-G-A CGGBP1 c.*3072C>T - 3-UTRSNV 4/4 -
4-25386468-C-A ANAPC4 c.368+1453C>A - IntronicSNV - 4/28
5-153840472-C-T SAP30L c.*4884C>T - 3-UTRSNV 4/4 -
4-25386468-C-T ANAPC4 c.368+1453C>T - IntronicSNV - 4/28
5-153840472-C-G SAP30L c.*4884C>G - 3-UTRSNV 4/4 -
5-153840472-C-A SAP30L c.*4884C>A - 3-UTRSNV 4/4 -
9-90342675-C-T CTSL c.126+31C>T - IntronicSNV - 2/7
2-44136337-A-C LRPPRC c.3275+3234T>G - IntronicSNV - 30/37
8-103219363-T-C RRM2B c.*998A>G - 3-UTRSNV 9/9 -
2-10010107-G-A TAF1B c.553+1549G>A - IntronicSNV - 6/14
1-53210888-C-T ZYG11B c.31-11242C>T - IntronicSNV - 1/13
11-47260319-A-G DDB2 c.1235-32A>G - IntronicSNV - 9/9
11-12017400-T-A DKK3 c.435+2843A>T - IntronicSNV - 4/7
7-99690690-G-C MCM7 c.1497C>G p.Val499Val Synonymous 14/14 -
6-151851124-C-A CCDC170 c.58-6329C>A - IntronicSNV - 1/10
7-1091625-A-C C7orf50 c.130-41846T>G - IntronicSNV - 2/4
1-165601365-T-C MGST3 c.-8+835T>C - intron_variant - 1/5
5-179000849-T-C RUFY1 c.505-3227T>C - IntronicSNV - 4/16
2-86451144-A-G REEP1 c.596-6911T>C - IntronicSNV - 6/6
6-36039153-T-C MAPK14 c.306-1497T>C - IntronicSNV - 3/11
19-58899182-A-G RPS5 c.1-323A>G - IntronicSNV - 1/5
20-33626216-C-T TRPC4AP c.866-3105G>A - IntronicSNV - 7/18
10-71985733-G-T PPA1 c.123+4364C>A - IntronicSNV - 2/10
5-140040665-G-A IK c.1413+265G>A - IntronicSNV - 16/19
8-145599466-G-C ADCK5 c.12+1670G>C - IntronicSNV - 1/14
8-145599466-G-T ADCK5 c.12+1670G>T - IntronicSNV - 1/14
6-33659046-G-C ITPR3 c.7225+160G>C - IntronicSNV - 52/57
6-33659046-G-A ITPR3 c.7225+160G>A - IntronicSNV - 52/57
16-50371738-T-A BRD7 c.702+2149A>T - IntronicSNV - 6/16
16-50371738-T-C BRD7 c.702+2149A>G - IntronicSNV - 6/16
3-132435823-C-T NPHP3 c.671-70G>A - IntronicSNV - 3/26
3-132435823-C-A NPHP3 c.671-70G>T - IntronicSNV - 3/26
16-651279-G-C RAB40C c.142+10846G>C - IntronicSNV - 1/5
19-18499815-G-C GDF15 c.*70G>C - 3-UTRSNV 2/2 -
7-22857504-T-C TOMM7 c.152+115A>G - IntronicSNV - 2/2
2-10010107-G-T TAF1B c.553+1549G>T - IntronicSNV - 6/14
17-43336574-C-T SPATA32 c.14-2000G>A - IntronicSNV - 1/4
10-6275602-C-T PFKFB3 c.*697C>T - 3-UTRSNV 15/15 -
8-99105726-T-C ERICH5 c.*165T>C - 3-UTRSNV 3/3 -
19-58153596-G-T ZNF211 c.*47G>T - 3-UTRSNV 5/5 -
14-88476728-T-C GPR65 c.1-464T>C - IntronicSNV 1/2 -
14-88476728-T-A GPR65 c.1-464T>A - IntronicSNV 1/2 -
11-9519703-T-G ZNF143 c.967+356T>G - IntronicSNV - 10/15
10-96105979-C-G NOC3L c.1389+203G>C - IntronicSNV - 11/20
2-61440507-A-G USP34 c.8682+688T>C - IntronicSNV - 68/79
3-151044732-T-C MED12L c.2146-23115T>C - IntronicSNV - 14/42
2-161144239-G-A RBMS1 c.641-644C>T - IntronicSNV - 6/13
12-51514352-T-C TFCP2 c.123-1797A>G - IntronicSNV - 1/14
5-141354116-T-C RNF14 c.155-253T>C - IntronicSNV - 3/8
20-33626216-C-G TRPC4AP c.866-3105G>C - IntronicSNV - 7/18
10-71985733-G-A PPA1 c.123+4364C>T - IntronicSNV - 2/10
2-105992771-T-G FHL2 c.157-2581A>C - IntronicSNV - 3/6
10-97022127-A-G PDLIM1 c.533+1494T>C - IntronicSNV - 4/6
12-10188967-G-A CLEC9A c.-317-5098G>A - intron_variant - 1/8
16-74707037-A-G MLKL c.1382-601T>C - IntronicSNV - 10/10
3-11302884-G-A HRH1 c.*697G>A - 3-UTRSNV 3/3 -
7-157156151-C-T DNAJB6 c.175+187C>T - IntronicSNV - 3/7
16-8940422-G-T PMM2 c.640-1159G>T - IntronicSNV - 7/7
16-8940422-G-A PMM2 c.640-1159G>A - IntronicSNV - 7/7
1-205318983-C-T KLHDC8A c.1-6251G>A - IntronicSNV - 1/5
2-241509712-C-T RNPEPL1 c.528+1181C>T - IntronicSNV - 1/10
2-228220769-T-C MFF c.897+292T>C - IntronicSNV - 10/10
11-94226952-C-G MRE11 c.-106+5G>C - splice_region_variant,intron_variant - 1/19
22-30544559-T-C HORMAD2 c.819+26356T>C - IntronicSNV - 10/10
11-94226952-C-T MRE11 c.-106+5G>A - splice_region_variant,intron_variant - 1/19
4-76417784-T-C RCHY1 c.406-641A>G - IntronicSNV - 4/8
16-107275-T-G SNRNP25 c.*132T>G - 3-UTRSNV 5/5 -
17-37970365-C-T IKZF3 c.163+15275G>A - IntronicSNV - 3/7
19-1038222-C-G CNN2 c.*323C>G - 3-UTRSNV 7/7 -
7-111166165-T-G IMMP2L c.1-4662A>C - IntronicSNV - 1/5
9-139316916-G-C PMPCA c.1408+488G>C - IntronicSNV - 12/12
2-20884586-G-C LDAH c.*2077C>G - IntergenicSNV 7/7 -
1-63986865-T-C ITGB3BP c.5+1935A>G - IntronicSNV - 1/8
6-166751416-C-T SFT2D1 c.63+4491G>A - IntronicSNV - 1/7
1-203713133-G-A ATP2B4 c.*4434G>A - 3-UTRSNV 22/22 -
12-131320170-T-C STX2 c.30+3445A>G - IntronicSNV - 1/10
11-70224599-T-A PPFIA1 c.3550+298T>A - IntronicSNV - 26/27
16-85711502-T-C GINS2 c.*316A>G - 3-UTRSNV 5/5 -
22-50831053-A-G PPP6R2 c.1-1285A>G - IntronicSNV - 2/22
16-419092-A-G MRPL28 c.417T>C p.Tyr139Tyr Synonymous 3/6 -
7-4776547-A-G FOXK1 c.561-3922A>G - IntronicSNV - 1/8
16-419092-A-C MRPL28 c.417T>G p.Tyr139* Nonsense 3/6 -
21-38477330-G-A TTC3 c.846-3362G>A - IntronicSNV - 10/45
22-37970189-G-A LGALS2 c.7-2251C>T - IntronicSNV - 1/3
11-134130189-C-T ACAD8 c.705+550C>T - IntronicSNV - 6/10
15-83297138-C-G CPEB1 c.16-1020G>C - IntronicSNV - 1/11
6-170676013-T-A FAM120B c.2283+8607T>A - IntronicSNV - 6/10
15-83297138-C-T CPEB1 c.16-1020G>A - IntronicSNV - 1/11
3-122479371-G-A HSPBAP1 c.433-1164C>T - IntronicSNV - 3/7
7-2258084-C-A MAD1L1 c.597-406G>T - IntronicSNV - 6/18
1-185052427-C-T RNF2 c.1-4259C>T - IntronicSNV - 1/6
2-85546052-A-G TGOLN2 c.*3807T>C - 3-UTRSNV 4/4 -
10-118735633-C-T SHTN1 c.111+3134G>A - IntronicSNV - 2/14
9-125017309-G-A RBM18 c.114-3057C>T - IntronicSNV - 2/5
17-46988044-G-A UBE2Z c.318-126G>A - IntronicSNV - 1/6
20-7962128-C-T TMX4 c.*770G>A - 3-UTRSNV 8/8 -
19-4176085-T-C SIRT6 c.438-151A>G - IntronicSNV - 4/6
5-55455645-G-C ANKRD55 c.483+15C>G - IntronicSNV - 6/11
4-57189498-G-A KIAA1211 c.3188-45G>A - IntronicSNV - 8/10
1-161479438-C-T FCGR2A c.362-172C>T - IntronicSNV - 3/6
11-2320966-C-T C11orf21 c.286-29G>A - IntronicSNV - 3/4
1-15869899-A-G DNAJC16 c.575-995A>G - IntronicSNV - 4/14
16-56504724-G-C OGFOD1 c.1285+21G>C - IntronicSNV - 10/12
10-133789386-C-G BNIP3 c.242-1939G>C - intron_variant - 1/5
7-48134719-A-G UPP1 c.44+295A>G - IntronicSNV - 3/8
7-48134719-A-C UPP1 c.44+295A>C - IntronicSNV - 3/8
15-99926440-T-C LRRC28 c.*133T>C - 3-UTRSNV 10/10 -
8-87406544-G-T WWP1 c.335-4027G>T - IntronicSNV - 5/24
1-243433654-A-G SDCCAG8 c.220+95A>G - IntronicSNV - 2/17
15-89189984-T-C ISG20 c.229-5357T>C - IntronicSNV - 2/3
3-126247848-C-T CHST13 c.97+4576C>T - IntronicSNV - 1/2
5-55455645-G-T ANKRD55 c.483+15C>A - IntronicSNV - 6/11
3-183704068-G-A ABCC5 c.591+1490C>T - IntronicSNV - 5/29
12-108718475-T-C CMKLR1 c.-74+5297A>G - intron_variant - 2/3
10-133789386-C-A BNIP3 c.242-1939G>T - intron_variant - 1/5
10-74159776-C-A MICU1 c.1186+7911G>T - IntronicSNV - 11/12
1-160136350-G-A ATP1A4 c.1080G>A p.Ala360Ala Synonymous 8/22 -
12-54687232-A-C NFE2 c.115-67T>G - IntronicSNV - 2/2
17-37682657-A-G CDK12 c.3760+88A>G - IntronicSNV - 13/13
5-60266666-G-C NDUFAF2 c.127+25457G>C - IntronicSNV - 1/3
16-3730499-C-G TRAP1 c.472-708G>C - IntronicSNV - 4/17
8-131420988-C-T ASAP1 c.1-6799G>A - IntronicSNV - 1/29
12-113357442-G-A OAS1 c.1189G>A p.Gly397Arg Missense 6/6 -
2-11936798-A-G LPIN1 c.1778+1185A>G - IntronicSNV - 13/19
18-20970706-G-A TMEM241 c.280-5675C>T - IntronicSNV - 4/14
6-41243740-C-T TREM1 c.*123G>A - 3-UTRSNV 4/4 -
5-114549087-T-G PGGT1B c.953-807A>C - IntronicSNV - 8/8
15-52850352-T-C ARPP19 c.46-933A>G - IntronicSNV - 1/2
15-52850352-T-G ARPP19 c.46-933A>C - IntronicSNV - 1/2
5-52097764-T-G PELO c.*90T>G - 3-UTRSNV 3/3 -
9-138837113-T-A UBAC1 c.654-17A>T - IntronicSNV - 6/9
16-85092748-T-C KIAA0513 c.1-7930T>C - IntronicSNV - 1/12
5-96355603-A-G LNPEP c.2377-2401A>G - IntronicSNV - 13/17
12-53586822-G-A ITGB7 c.1726+102C>T - IntronicSNV - 12/15
1-8497307-T-A RERE c.1204-14440A>T - IntronicSNV - 11/22
16-57567624-C-A CCDC102A c.-148+2788G>T - intron_variant - 1/8
1-8497307-T-C RERE c.1204-14440A>G - IntronicSNV - 11/22
11-74569939-G-A XRRA1 c.1146+264C>T - IntronicSNV - 12/18
2-69586293-A-C GFPT1 c.408+107T>G - IntronicSNV - 5/19
8-145139522-C-G GPAA1 c.1010+10C>G - IntronicSNV - 7/11
2-219154781-G-A TMBIM1 c.-41+2408C>T - intron_variant - 1/11
16-90074085-T-A DBNDD1 c.379+1107A>T - IntronicSNV - 3/3
16-90074085-T-G DBNDD1 c.379+1107A>C - IntronicSNV - 3/3
14-76081664-A-G FLVCR2 c.670-6758A>G - IntronicSNV - 1/9
19-53584418-G-A ZNF160 c.15+5097C>T - IntronicSNV - 3/5
3-4410534-C-T SUMF1 c.1015-6596G>A - IntronicSNV - 8/8
14-76081664-A-T FLVCR2 c.670-6758A>T - IntronicSNV - 1/9
1-19413926-C-G UBR4 c.14544+384G>C - IntronicSNV - 99/105
7-74132014-A-C GTF2I c.880+744A>C - IntronicSNV - 11/34
7-74132014-A-G GTF2I c.880+744A>G - IntronicSNV - 11/34
17-80874102-A-C TBCD c.2039-4330A>C - IntronicSNV - 23/38
17-33946107-A-G AP2B1 c.526-5309A>G - IntronicSNV - 5/21
15-49441416-A-T COPS2 c.55-4141T>A - IntronicSNV - 1/12
3-100442386-A-G TFG c.268+3484A>G - IntronicSNV - 3/7
15-63616479-C-A CA12 c.*2005G>T - 3-UTRSNV 11/11 -
3-53262472-G-A TKT c.1396-97C>T - IntronicSNV - 10/13
19-49400775-G-A TULP2 c.33-122C>T - IntronicSNV - 2/12
6-43193877-G-T DNPH1 c.270C>A p.Val90Val Synonymous 3/4 -
15-86200699-G-A AKAP13 c.4746-1069G>A - IntronicSNV - 11/36
9-140037029-C-A GRIN1 c.393+430C>A - IntronicSNV - 2/19
15-91512267-G-T PRC1 c.1791+42C>A - IntronicSNV - 14/14
6-33543409-A-C BAK1 c.206+161T>G - IntronicSNV - 3/5
5-157166598-C-G THG1L c.*108C>G - 3-UTRSNV 6/6 -
5-157166598-C-T THG1L c.*108C>T - 3-UTRSNV 6/6 -
2-182328214-G-A ITGA4 c.319+5170G>A - IntronicSNV - 2/27
1-1165310-G-A SDF4 c.1-1137C>T - IntronicSNV - 1/6
20-35945238-C-G MANBAL c.*420C>G - 3-UTRSNV 4/4 -
6-109948836-G-A AK9 c.1254+5290C>T - IntronicSNV - 12/40
7-151091890-C-T WDR86 c.726+972G>A - IntronicSNV - 3/5
1-151116279-G-A SEMA6C c.-55+582C>T - intron_variant - 2/18
11-3061992-T-C CARS c.206+134A>G - IntronicSNV - 3/21
2-202621002-T-C ALS2 c.1471+1123A>G - IntronicSNV - 5/33
1-27158344-C-T ZDHHC18 c.336-594C>T - IntronicSNV - 1/7
22-26920270-T-A TPST2 c.*1971A>T - 3_prime_UTR_variant 7/7 -
22-26920270-T-C TPST2 c.*1971A>G - 3_prime_UTR_variant 7/7 -
15-77755550-C-T HMG20A c.90-1032C>T - IntronicSNV - 3/10
4-108610005-A-G PAPSS1 c.412-1672T>C - IntronicSNV - 3/11
1-109711847-A-G KIAA1324 c.468-2641A>G - IntronicSNV - 3/21
11-1875067-G-A LSP1 c.53+640G>A - IntronicSNV - 1/10
4-39031842-C-T TMEM156 c.88+2004G>A - IntronicSNV - 1/6
10-74159776-C-G MICU1 c.1186+7911G>C - IntronicSNV - 11/12
1-46021556-C-A AKR1A1 c.-7+3321C>A - intron_variant - 2/9
7-133979225-C-G SLC35B4 c.*360G>C - 3-UTRSNV 10/10 -
11-94226952-C-A MRE11 c.-106+5G>T - splice_region_variant,intron_variant - 1/19
12-102295903-C-T DRAM1 c.342+692C>T - IntronicSNV - 3/6
20-20008581-T-C NAA20 c.305+1018T>C - IntronicSNV - 4/5
20-20008581-T-A NAA20 c.305+1018T>A - IntronicSNV - 4/5
20-4779569-T-C RASSF2 c.60-838A>G - IntronicSNV - 3/11
4-88008401-T-A AFF1 c.1084-2735T>A - IntronicSNV - 4/19
2-46978349-A-G SOCS5 c.1-7321A>G - IntronicSNV - 1/1
8-81057339-A-G TPD52 c.19+26321T>C - IntronicSNV - 1/5
3-160135286-G-A SMC4 c.1438-225G>A - IntronicSNV - 10/23
17-16186100-G-A PIGL c.336-17102G>A - IntronicSNV - 2/6
8-131345906-A-C ASAP1 c.186+24357T>G - IntronicSNV - 3/29
1-22455142-G-A WNT4 c.313+967C>T - IntronicSNV - 2/4
1-76209754-G-A ACADM c.600-1737G>A - IntronicSNV - 7/11
17-78408213-C-G ENDOV c.839-1720C>G - IntronicSNV - 9/9
14-100826260-G-C WARS c.422+631C>G - IntronicSNV - 4/10
19-1271529-C-G CIRBP c.350-21C>G - IntronicSNV - 4/6
16-731725-T-G JMJD8 c.*1069A>C - 3-UTRSNV 9/9 -
17-18263957-G-A SHMT1 c.-20+2729C>T - intron_variant - 1/11
6-146232978-A-T SHPRH c.4339-1206T>A - IntronicSNV - 24/29
2-219260651-C-A SLC11A1 c.*893C>A - 3-UTRSNV 15/15 -
8-102777476-G-A NCALD c.1-45619C>T - IntronicSNV - 1/7
3-49088112-T-C QRICH1 c.1339-3433A>G - IntronicSNV - 4/10
20-62337406-A-C ARFRP1 c.264+303T>G - IntronicSNV - 4/6
17-72712362-C-G RAB37 c.73-13033C>G - IntronicSNV - 1/8
20-18510175-A-G SEC23B c.1110-1149A>G - IntronicSNV - 9/19
5-72862314-A-C UTP15 c.-84+577A>C - intron_variant - 1/12
10-120919179-G-C SFXN4 c.360+61C>G - IntronicSNV - 6/13
1-17723126-A-G PADI6 c.1619-441A>G - intron_variant - 14/16
12-49226743-A-C DDX23 c.1803+317T>G - IntronicSNV - 13/16
2-135699124-G-C CCNT2 c.431-1058G>C - IntronicSNV - 4/8
10-100217879-G-C HPSE2 c.*1452C>G - 3-UTRSNV 12/12 -
19-53649073-A-G ZNF347 c.271+2861T>C - IntronicSNV - 4/4
11-66910826-C-T KDM2A c.42+21997C>T - IntronicSNV - 2/20
1-40559248-T-G PPT1 c.125-1069A>C - IntronicSNV - 1/8
7-33003687-T-A FKBP9 c.221+6281T>A - IntronicSNV - 1/9
7-33003687-T-C FKBP9 c.221+6281T>C - IntronicSNV - 1/9
10-17636182-G-C HACD1 c.784+22C>G - IntronicSNV - 6/6