PMID: 30827501

Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American journal of human genetics
E Bahrami-Samani, Y Xing
2019-03-07

2231 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-20906257-A-T USP22 c.*87T>A - 3-UTRSNV 13/13 -
2-219562675-G-A STK36 c.2945G>A p.Gly982Asp Missense 25/27 -
19-18618867-G-A ELL c.135+13864C>T - IntronicSNV - 1/11
8-121587165-G-T SNTB1 c.1136+161C>A - IntronicSNV - 4/6
10-102302457-A-G HIF1AN c.577+1918A>G - IntronicSNV - 3/7
4-1746229-G-T TACC3 c.2224-16G>T - IntronicSNV - 13/15
1-61791863-G-C NFIA c.626-6321G>C - IntronicSNV - 3/9
20-30795819-T-C POFUT1 c.75T>C p.Pro25Pro Synonymous 1/7 -
1-156264000-G-A GLMP c.607C>T p.Pro203Ser Missense 4/6 -
2-166917408-A-T SCN1A c.265-2210T>A - IntronicSNV - 4/28
7-117824239-G-T LSM8 c.1-39G>T - 5-UTRSNV 1/4 -
7-117824239-G-C LSM8 c.1-39G>C - 5-UTRSNV 1/4 -
1-19785911-G-A CAPZB c.3+26019C>T - IntronicSNV - 1/9
6-29912457-C-A HLA-A c.1012+64C>A - IntronicSNV - 5/7
6-29912457-C-G HLA-A c.1012+64C>G - IntronicSNV - 5/7
21-40566067-A-G BRWD1 c.*2118T>C - 3-UTRSNV 41/41 -
3-39111140-C-T WDR48 c.577C>T p.Arg193Trp Missense 7/19 -
1-55512995-G-A PCSK9 c.523+676G>A - IntronicSNV - 3/11
1-153939130-C-G SLC39A1 c.-140+732G>C - intron_variant - 1/4
1-153939130-C-T SLC39A1 c.-140+732G>A - intron_variant - 1/4
7-72984780-T-C TBL2 c.*57A>G - 3-UTRSNV 7/7 -
20-32667220-A-G RALY c.*865A>G - IntronicSNV 9/9 -
11-31504194-C-T IMMP1L c.-92-8861G>A - intron_variant - 1/6
11-68295628-T-C PPP6R3 c.1-9505T>C - IntronicSNV - 1/22
2-219112956-T-C ARPC2 c.677-1131T>C - IntronicSNV - 7/9
12-62705895-T-C USP15 c.349-2676T>C - IntronicSNV - 3/20
6-127633810-A-T ECHDC1 c.497+2151T>A - IntronicSNV - 5/5
11-78015563-A-C GAB2 c.76-23616T>G - IntronicSNV - 1/9
17-64212242-T-A APOH c.784+664A>T - IntronicSNV - 6/7
17-64212242-T-C APOH c.784+664A>G - IntronicSNV - 6/7
5-1330840-T-C CLPTM1L c.977-342A>G - IntronicSNV - 8/16
1-65822517-G-T DNAJC6 c.194-7801G>T - IntronicSNV - 1/18
1-155868625-G-A RIT1 c.*1554C>T - 3-UTRSNV 6/6 -
11-57560452-A-C CTNND1 c.196-1030A>C - IntronicSNV - 3/18
2-48025764-C-G MSH6 c.642C>G p.Tyr214* Nonsense 4/10 -
2-48025764-C-A MSH6 c.642C>A p.Tyr214* Nonsense 4/10 -
2-48025764-C-T MSH6 c.642C>T p.Tyr214Tyr Synonymous 4/10 -
1-153913770-A-G DENND4B c.1123-5T>C - IntronicSNV - 7/27
1-90343951-A-G LRRC8D c.-3+34610A>G - intron_variant - 2/2
1-179071756-G-A ABL2 c.*5097C>T - 3-UTRSNV 12/12 -
12-51134741-A-G DIP2B c.4355-458A>G - IntronicSNV - 36/37
2-11734315-T-A GREB1 c.1697-1062T>A - IntronicSNV - 11/32
2-11734315-T-C GREB1 c.1697-1062T>C - IntronicSNV - 11/32
19-55526345-T-G GP6 c.968A>C p.Lys323Thr Missense 8/8 -
3-99592596-C-T FILIP1L c.-116+2320G>A - intron_variant - 1/1
6-111747083-G-C REV3L c.140-9408C>G - IntronicSNV - 2/32
5-134272055-T-C PCBD2 c.217-22675T>C - IntronicSNV - 2/3
6-167440736-G-A FGFR1OP c.988+633G>A - IntronicSNV - 10/12
6-167440736-G-C FGFR1OP c.988+633G>C - IntronicSNV - 10/12
2-190649316-G-A PMS1 c.-24G>A - 5_prime_UTR_variant 1/13 -
2-190649316-G-C PMS1 c.-24G>C - 5_prime_UTR_variant 1/13 -
1-114948281-A-G TRIM33 c.2519T>C p.Ile840Thr Missense 15/20 -
17-20906257-A-G USP22 c.*87T>C - 3-UTRSNV 13/13 -
6-30889389-T-C VARS2 c.1656T>C p.Val552Val Synonymous 18/30 -
1-61610049-G-A NFIA c.559+55697G>A - IntronicSNV - 2/9
17-79589242-G-A NPLOC4 c.159C>T p.Thr53Thr Synonymous 3/17 -
17-79589242-G-T NPLOC4 c.159C>A p.Thr53Thr Synonymous 3/17 -
3-52821011-A-G ITIH1 c.1784A>G p.Gln595Arg Missense 14/22 -
16-67977382-T-C LCAT c.155-267A>G - IntronicSNV - 1/5
20-48569127-G-A RNF114 c.*449G>A - 3-UTRSNV 6/6 -
13-99167654-A-T STK24 c.309+3843T>A - IntronicSNV - 2/10
1-197070776-C-T ASPM c.7605G>A p.Val2535Val Synonymous 18/28 -
20-21147009-A-G KIZ c.1352+3209A>G - IntronicSNV - 6/13
6-31603770-A-G PRRC2A c.5568A>G p.Gln1856Gln Synonymous 25/31 -
20-48600631-T-C SNAI1 c.353T>C p.Val118Ala Missense 2/3 -
17-38069949-C-T GSDMB c.236-1199G>A - IntronicSNV - 1/7
17-80111442-G-C CCDC57 c.2241+4182C>G - IntronicSNV - 14/16
17-80111442-G-T CCDC57 c.2241+4182C>A - IntronicSNV - 14/16
2-113993344-A-C PAX8 c.899-185T>G - IntronicSNV - 8/11
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
4-1291113-G-T MAEA c.69+7343G>T - IntronicSNV - 1/7
1-26568542-T-G CEP85 c.56-2115T>G - IntronicSNV - 2/13
7-128384605-C-G CALU c.1-4033C>G - IntronicSNV - 1/6
7-128384605-C-A CALU c.1-4033C>A - IntronicSNV - 1/6
17-38064405-C-T GSDMB c.661+806G>A - IntronicSNV - 4/7
8-22264334-T-G SLC39A14 c.271-1489T>G - IntronicSNV - 2/8
8-22264334-T-A SLC39A14 c.271-1489T>A - IntronicSNV - 2/8
8-22264334-T-C SLC39A14 c.271-1489T>C - IntronicSNV - 2/8
2-99083892-A-C INPP4A c.-166+22344A>C - intron_variant - 1/25
16-89760492-C-G CDK10 c.396-89C>G - IntronicSNV - 8/12
3-48462461-A-G PLXNB1 c.1811-96T>C - IntronicSNV - 8/37
8-145741765-G-A RECQL4 c.738C>T p.Ser246Ser Synonymous 5/22 -
20-25278261-A-G PYGB c.*1103A>G - 3-UTRSNV 20/20 -
2-27599875-T-G SNX17 c.*289T>G - 3-UTRSNV 15/15 -
7-103403948-A-C RELN c.545-10287T>G - IntronicSNV - 4/64
7-120979089-C-T WNT16 c.788C>T p.Thr263Ile Missense 4/4 -
7-120979089-C-G WNT16 c.788C>G p.Thr263Arg Missense 4/4 -
13-113536627-A-G ATP11A c.*447A>G - 3_prime_UTR_variant 30/30 -
5-167943827-G-A RARS c.1497G>A p.Ala499Ala Synonymous 13/15 -
13-113540649-G-A ATP11A c.*4469G>A - 3_prime_UTR_variant 30/30 -
13-113540649-G-T ATP11A c.*4469G>T - 3_prime_UTR_variant 30/30 -
4-74311433-C-G AFP c.843+594C>G - IntronicSNV - 7/14
4-702169-G-A PCGF3 c.-190+2410G>A - intron_variant - 1/10
5-167943827-G-C RARS c.1497G>C p.Ala499Ala Synonymous 13/15 -
3-48466583-C-G PLXNB1 c.1-563G>C - IntronicSNV - 1/37
6-31380194-T-C MICA c.985T>C p.Cys329Arg Missense 5/6 -
6-31380194-T-A MICA c.985T>A p.Cys329Ser Missense 5/6 -
19-11243735-C-G LDLR c.*1743C>G - 3-UTRSNV 18/18 -
5-95234791-C-T ELL2 c.955-277G>A - IntronicSNV - 7/11
1-8526142-G-A RERE c.1105-59C>T - IntronicSNV - 10/22
3-53847408-A-T CACNA1D c.*1975A>T - IntergenicSNV 49/49 -
3-53847408-A-G CACNA1D c.*1975A>G - IntergenicSNV 49/49 -
5-95236415-G-A ELL2 c.936C>T p.Asp312Asp Synonymous 7/12 -
8-121583283-A-G SNTB1 c.1136+4043T>C - IntronicSNV - 4/6
8-121583283-A-T SNTB1 c.1136+4043T>A - IntronicSNV - 4/6
4-17632988-G-C FAM184B c.*1167C>G - IntergenicSNV 18/18 -
4-17632988-G-A FAM184B c.*1167C>T - IntergenicSNV 18/18 -
16-28603335-T-G SULT1A2 c.*14A>C - 3-UTRSNV 8/8 -
16-28603335-T-C SULT1A2 c.*14A>G - 3-UTRSNV 8/8 -
16-31048079-C-T STX4 c.379-1168C>T - IntronicSNV - 5/10
5-642293-A-T CEP72 c.1539+1574A>T - IntronicSNV - 9/11
5-642293-A-G CEP72 c.1539+1574A>G - IntronicSNV - 9/11
1-183079853-T-C LAMC1 c.1021+64T>C - IntronicSNV - 4/27
1-183079853-T-G LAMC1 c.1021+64T>G - IntronicSNV - 4/27
12-107350088-C-G TMEM263 c.-75+245C>G - intron_variant - 1/3
2-201177193-T-C SPATS2L c.-73+6310T>C - intron_variant - 1/12
1-67679990-G-A IL23R c.799-5267G>A - IntronicSNV - 6/10
16-53297685-T-G CHD9 c.4320+676T>G - IntronicSNV - 20/38
8-145724973-C-G PPP1R16A c.477-506C>G - IntronicSNV - 6/12
20-25268920-T-C PYGB c.1769-141T>C - IntronicSNV - 14/19
1-1249187-G-A INTS11 c.882C>T p.Phe294Phe Synonymous 9/17 -
6-31379773-C-T MICA c.663C>T p.Ile221Ile Synonymous 4/6 -
10-7894082-T-G TAF3 c.409+27559T>G - IntronicSNV - 2/6
6-33660143-G-A ITPR3 c.7459-362G>A - IntronicSNV - 54/57
1-243579112-G-A SDCCAG8 c.1725G>A p.Glu575Glu Synonymous 14/18 -
5-137725003-C-T KDM3B c.1381-1699C>T - IntronicSNV - 7/23
2-69985435-G-A ANXA4 c.-47+16128G>A - intron_variant - 1/12
7-138179704-A-G TRIM24 c.365-9331A>G - IntronicSNV - 1/18
16-53283966-G-A CHD9 c.3849G>A p.Gln1283Gln Synonymous 17/39 -
9-111781495-G-A TMEM245 c.*1245C>T - 3-UTRSNV 18/18 -
9-111781495-G-C TMEM245 c.*1245C>G - 3-UTRSNV 18/18 -
1-113214097-G-A CAPZA1 c.*1343G>A - 3-UTRSNV 10/10 -
19-1063443-A-C ABCA7 c.5713-100A>C - IntronicSNV - 42/46
19-1063443-A-G ABCA7 c.5713-100A>G - IntronicSNV - 42/46
4-145982563-A-G ANAPC10 c.327+3161T>C - IntronicSNV - 4/4
17-47370449-T-G ZNF652 c.*5326A>C - 3-UTRSNV 6/6 -
9-111868885-G-A TMEM245 c.702C>T p.Ser234Ser Synonymous 3/18 -
1-8654305-G-T RERE c.522+20315C>A - IntronicSNV - 4/22
1-8654305-G-A RERE c.522+20315C>T - IntronicSNV - 4/22
1-8654305-G-C RERE c.522+20315C>G - IntronicSNV - 4/22
11-78091150-C-A GAB2 c.75+37542G>T - IntronicSNV - 1/9
10-114202526-A-G ZDHHC6 c.360-417T>C - IntronicSNV - 3/10
5-176492883-T-G ZNF346 c.*1283T>G - 3-UTRSNV 7/7 -
5-176492883-T-C ZNF346 c.*1283T>C - 3-UTRSNV 7/7 -
16-31121793-G-A BCKDK c.615G>A p.Thr205Thr Synonymous 7/12 -
5-179193598-C-T MAML1 c.1587C>T p.Ser529Ser Synonymous 2/5 -
11-65314830-A-T LTBP3 c.2107+80T>A - IntronicSNV - 14/26
11-65314830-A-G LTBP3 c.2107+80T>C - IntronicSNV - 14/26
2-71645828-G-A ZNF638 c.3299+59G>A - IntronicSNV - 21/27
7-103627369-A-T RELN c.226+2209T>A - IntronicSNV - 1/64
2-234054873-G-A INPP5D c.738G>A - synonymous_variant 8/28 -
6-167436461-T-C FGFR1OP c.806+338T>C - IntronicSNV - 8/12
12-57081517-A-G PTGES3 c.2+265T>C - IntronicSNV - 1/7
2-216297796-G-C FN1 c.415+251C>G - IntronicSNV - 3/43
19-19619542-A-G GATAD2A c.*3259A>G - 3-UTRSNV 12/12 -
15-89858602-T-C FANCI c.3726T>C p.Gly1242Gly Synonymous 36/37 -
16-4014282-C-T ADCY9 c.*1494G>A - 3-UTRSNV 11/11 -
20-61491494-T-C TCFL5 c.814A>G p.Asn272Asp Missense 2/6 -
6-70407465-A-T LMBRD1 c.1407T>A p.Asp469Glu Missense 14/16 -
1-61617094-G-A NFIA c.559+62742G>A - IntronicSNV - 2/9
4-1238363-A-G CTBP1 c.40+4341T>C - IntronicSNV - 1/8
4-1238363-A-T CTBP1 c.40+4341T>A - IntronicSNV - 1/8
16-4014282-C-A ADCY9 c.*1494G>T - 3-UTRSNV 11/11 -
16-4014282-C-G ADCY9 c.*1494G>C - 3-UTRSNV 11/11 -
8-109234825-T-C EIF3E c.723-5136A>G - IntronicSNV - 7/12
7-138157390-A-G TRIM24 c.364+11733A>G - IntronicSNV - 1/18
3-52831701-C-G ITIH3 c.550-132C>G - IntronicSNV - 5/21
11-5472767-A-G OR51B5 c.-360+54032T>C - intron_variant - 1/4
2-27550967-A-G GTF3C2 c.2346T>C p.Pro782Pro Synonymous 17/19 -
2-219501133-G-A PLCD4 c.2182+18G>A - IntronicSNV - 15/15
7-107566488-G-T LAMB1 c.5064+140C>A - IntronicSNV - 32/33
8-94752754-G-A RBM12B c.-78+355C>T - intron_variant - 1/2
6-29911092-G-A HLA-A c.391G>A p.Gly131Arg Missense 3/8 -
12-94126925-T-G CRADD c.298+54077T>G - IntronicSNV - 2/2
16-68304392-C-T SLC7A6 c.-37+3768C>T - intron_variant - 2/10
3-128338953-T-G RPN1 c.*301A>C - 3-UTRSNV 10/10 -
3-128338953-T-C RPN1 c.*301A>G - 3-UTRSNV 10/10 -
3-128338953-T-A RPN1 c.*301A>T - 3-UTRSNV 10/10 -
7-6431404-G-T RAC1 c.108-151G>T - IntronicSNV - 2/6
11-78204380-C-T NARS2 c.690-139G>A - IntronicSNV - 6/13
16-67984804-G-A SLC12A4 c.1396+61C>T - IntronicSNV - 10/23
1-41569708-T-C SCMH1 c.715+9247A>G - IntronicSNV - 8/15
7-103403966-A-G RELN c.545-10305T>C - IntronicSNV - 4/64
17-20919705-G-C USP22 c.691-493C>G - IntronicSNV - 5/12
2-69723710-C-T AAK1 c.2270-498G>A - IntronicSNV - 16/21
19-34838998-C-T KIAA0355 c.2687+51C>T - IntronicSNV - 11/13
2-61764140-C-T XPO1 c.-7+557G>A - intron_variant - 1/24
2-61764140-C-A XPO1 c.-7+557G>T - intron_variant - 1/24
21-40679864-A-C BRWD1 c.198+4903T>G - IntronicSNV - 4/40
2-10758029-T-C NOL10 c.1027-10592A>G - IntronicSNV - 13/20
5-95276260-C-T ELL2 c.195+2446G>A - IntronicSNV - 2/11
5-95276260-C-A ELL2 c.195+2446G>T - IntronicSNV - 2/11
1-242030151-A-G EXO1 c.1061A>G p.His354Arg Missense 9/14 -
6-167435325-T-C FGFR1OP c.580-572T>C - IntronicSNV - 7/12
5-112229903-G-A REEP5 c.352-7023C>T - IntronicSNV - 3/4
10-21827796-G-A MLLT10 c.195G>A p.Pro65Pro Synonymous 3/23 -
10-21827796-G-T MLLT10 c.195G>T p.Pro65Pro Synonymous 3/23 -
12-66351826-T-G HMGA2 c.283-5199T>G - IntronicSNV - 4/4
16-31129942-C-T KAT8 c.211+729C>T - IntronicSNV - 1/10
1-156700651-T-G RRNAD1 c.112-1132T>G - IntronicSNV - 1/7
19-17387254-G-A BABAM1 c.570-50G>A - IntronicSNV - 6/8
16-68251784-C-G NFATC3 c.*3452C>G - IntronicSNV - 10/10
2-219103580-A-T ARPC2 c.455+7A>T - IntronicSNV - 5/9
2-219103580-A-G ARPC2 c.455+7A>G - IntronicSNV - 5/9
1-1247494-T-C INTS11 c.1641A>G p.Pro547Pro Synonymous 16/17 -
1-1247494-T-A INTS11 c.1641A>T p.Pro547Pro Synonymous 16/17 -
1-1247494-T-G INTS11 c.1641A>C p.Pro547Pro Synonymous 16/17 -
1-8811768-G-A RERE c.-145+65451C>T - intron_variant - 1/22
7-138229990-G-A TRIM24 c.1144-5818G>A - IntronicSNV - 7/18
19-18554972-A-G ELL c.*590T>C - 3-UTRSNV 12/12 -
1-150808889-C-G ARNT c.522G>C p.Val174Val Synonymous 6/21 -
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
1-169543131-G-A F5 c.251-1550C>T - IntronicSNV - 2/24
10-81114959-C-T PPIF c.*1361C>T - 3-UTRSNV 6/6 -
12-120933946-T-C DYNLL1 c.-80T>C - 5_prime_UTR_variant 1/3 -
15-75136261-C-G SCAMP2 c.*1163G>C - IntergenicSNV 9/9 -
21-40652142-G-T BRWD1 c.864C>A p.Tyr288* Nonsense 9/41 -
2-166903445-T-C SCN1A c.1212A>G p.Val404Val Synonymous 12/29 -
1-158585415-C-T SPTA1 c.6601-222G>A - IntronicSNV - 47/51
1-158585415-C-A SPTA1 c.6601-222G>T - IntronicSNV - 47/51
16-84796603-A-G USP10 c.1575A>G p.Gln525Gln Synonymous 10/15 -
16-28617057-G-C SULT1A1 c.*85C>G - 3-UTRSNV 8/8 -
7-150647969-C-T KCNH2 c.2145+40G>A - IntronicSNV - 8/14
3-52566065-T-C NT5DC2 c.121+2484A>G - IntronicSNV - 1/13
3-52566065-T-G NT5DC2 c.121+2484A>C - IntronicSNV - 1/13
6-47487762-A-G CD2AP c.166-13576A>G - IntronicSNV - 2/17
5-115481879-T-A COMMD10 c.510+12004T>A - IntronicSNV - 5/6
5-115481879-T-G COMMD10 c.510+12004T>G - IntronicSNV - 5/6
6-11042909-G-A ELOVL2 c.3+1552C>T - IntronicSNV - 1/7
2-61741947-T-G XPO1 c.301+7799A>C - IntronicSNV - 4/24
20-48554977-C-G RNF114 c.140+1888C>G - IntronicSNV - 1/5
7-110898915-T-C IMMP2L c.239+228379A>G - IntronicSNV - 3/5
6-29912333-C-T HLA-A c.952C>T p.Leu318Phe Missense 5/8 -
1-59124803-C-T MYSM1 c.*866G>A - 3-UTRSNV 20/20 -
1-55509355-C-T PCSK9 c.208-161C>T - IntronicSNV - 1/11
1-117104215-A-G CD58 c.70+9310T>C - IntronicSNV - 1/5
11-6522804-G-A DNHD1 c.747-1179G>A - IntronicSNV - 3/42
2-219295835-G-A VIL1 c.1102+234G>A - IntronicSNV - 10/19
2-61761774-A-G XPO1 c.1-742T>C - IntronicSNV - 1/24
9-111881856-T-C TMEM245 c.338A>G p.His113Arg Missense 1/18 -
3-52727257-G-A GNL3 c.1099G>A p.Val367Met Missense 11/15 -
2-219142594-C-G TMBIM1 c.513+64G>C - IntronicSNV - 7/11
2-219142594-C-T TMBIM1 c.513+64G>A - IntronicSNV - 7/11
17-56736490-T-C TEX14 c.1-7128A>G - IntronicSNV - 1/32
4-95224812-T-G HPGDS c.337-1417A>C - IntronicSNV - 4/5
5-115169920-G-A ATG12 c.301-1559C>T - IntronicSNV - 2/3
21-40567716-C-G BRWD1 c.*469G>C - 3-UTRSNV 41/41 -
15-99258710-A-C IGF1R c.640+7374A>C - IntronicSNV - 2/20
15-99258710-A-T IGF1R c.640+7374A>T - IntronicSNV - 2/20
12-122522921-T-C MLXIP c.413+5749T>C - intron_variant - 1/16
11-85757589-C-T PICALM c.131-14936G>A - IntronicSNV - 1/19
16-580229-C-G CAPN15 c.-190+2200C>G - intron_variant - 1/13
5-148888762-A-C CSNK1A1 c.750+680T>G - IntronicSNV - 7/9
5-148888762-A-T CSNK1A1 c.750+680T>A - IntronicSNV - 7/9
5-148888762-A-G CSNK1A1 c.750+680T>C - IntronicSNV - 7/9
2-61716924-G-A XPO1 c.2022+853C>T - IntronicSNV - 17/24
6-17699322-G-A NUP153 c.111+7186C>T - IntronicSNV - 1/22
2-61716924-G-T XPO1 c.2022+853C>A - IntronicSNV - 17/24
1-158607935-T-A SPTA1 c.5077A>T p.Lys1693* Nonsense 36/52 -
7-111180544-C-T IMMP2L c.1-19041G>A - IntronicSNV - 1/5
7-111180544-C-A IMMP2L c.1-19041G>T - IntronicSNV - 1/5
11-47378396-C-G SPI1 c.494-1299G>C - IntronicSNV - 4/4
16-52579986-A-G TOX3 c.87+563T>C - IntronicSNV - 1/6
22-21983260-A-G YDJC c.602+39T>C - IntronicSNV - 4/4
2-215673937-C-T BARD1 c.158+199G>A - IntronicSNV - 1/10
21-40648713-C-T BRWD1 c.1104+464G>A - IntronicSNV - 11/40
7-99223147-T-C ZSCAN25 c.805+1344T>C - IntronicSNV - 7/7
1-205685352-T-C NUCKS1 c.*2056A>G - 3-UTRSNV 7/7 -
4-56262374-A-G TMEM165 c.18A>G p.Pro6Pro Synonymous 1/6 -
12-122623000-T-C MLXIP c.2286T>C - synonymous_variant 14/17 -
15-89859377-A-G FANCI c.3745-251A>G - IntronicSNV - 36/36
7-73020337-C-G MLXIPL c.723G>C p.Gln241His Missense 6/17 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
12-103244013-G-A PAH c.912+1452C>T - IntronicSNV - 8/12
1-214830617-A-T CENPF c.8827A>T p.Arg2943* Nonsense 18/20 -
21-30706470-A-T BACH1 c.1776+4456A>T - IntronicSNV - 4/4
15-89844860-G-A FANCI c.2826+187G>A - IntronicSNV - 26/36
7-1886388-C-A MAD1L1 c.1999-30524G>T - IntronicSNV - 18/18
17-53230722-A-G STXBP4 c.1548-6436A>G - IntronicSNV - 17/17
1-85845998-G-T DDAH1 c.1-21474C>A - IntronicSNV - 2/6
6-71278101-T-A SDHAF4 c.64+1394T>A - IntronicSNV - 1/2
6-71278101-T-C SDHAF4 c.64+1394T>C - IntronicSNV - 1/2
6-11008622-G-C ELOVL2 c.67+2357C>G - IntronicSNV - 2/7
2-188345017-G-A TFPI c.628+3834C>T - IntronicSNV - 6/7
8-144917790-A-G NRBP2 c.*42T>C - 3-UTRSNV 18/18 -
12-66331365-G-C HMGA2 c.250-13798G>C - IntronicSNV - 3/4
11-118619047-T-G DDX6 c.*3767A>C - 3_prime_UTR_variant 14/14 -
11-63979643-G-T FERMT3 c.786+424G>T - IntronicSNV - 6/14
4-74319283-T-A AFP c.1653-199T>A - IntronicSNV - 12/14
4-74319283-T-G AFP c.1653-199T>G - IntronicSNV - 12/14
12-122623000-T-G MLXIP c.2286T>G - synonymous_variant 14/17 -
17-47132819-T-C IGF2BP1 c.*6013T>C - 3-UTRSNV 15/15 -
21-47705237-T-C MCM3AP c.1-37A>G - IntergenicSNV 1/28 -
16-580124-C-G CAPN15 c.-190+2095C>G - intron_variant - 1/13
16-580124-C-A CAPN15 c.-190+2095C>A - intron_variant - 1/13
1-204499056-A-G MDM4 c.154-756A>G - IntronicSNV - 3/10
4-80947386-A-G ANTXR2 c.866+5391T>C - IntronicSNV - 10/16
4-80947386-A-C ANTXR2 c.866+5391T>G - IntronicSNV - 10/16
11-64081445-G-C ESRRA c.348G>C p.Pro116Pro Synonymous 3/7 -
1-214830617-A-G CENPF c.8827A>G p.Arg2943Gly Missense 18/20 -
21-30706470-A-G BACH1 c.1776+4456A>G - IntronicSNV - 4/4
6-31379109-G-A MICA c.586G>A p.Glu196Lys Missense 3/6 -
17-53230722-A-T STXBP4 c.1548-6436A>T - IntronicSNV - 17/17
7-2789880-A-C GNA12 c.526-16745T>G - IntronicSNV - 2/3
7-2789880-A-G GNA12 c.526-16745T>C - IntronicSNV - 2/3
8-28791159-G-A HMBOX1 c.1-30226G>A - IntronicSNV - 2/10
20-21135126-T-C KIZ c.406-7386T>C - IntronicSNV - 4/13
6-30893127-G-A VARS2 c.2750G>A p.Arg917Gln Missense 27/30 -
3-136288405-G-A STAG1 c.298-702C>T - IntronicSNV - 4/33
1-8759554-T-C RERE c.1-43198A>G - IntronicSNV - 1/22
7-138191656-G-C TRIM24 c.483+2503G>C - IntronicSNV - 2/18
15-56387859-T-C RFX7 c.2067A>G p.Lys689Lys Synonymous 10/10 -
21-44478680-T-C CBS c.1358+264A>G - IntronicSNV - 14/16
6-30152789-C-T TRIM26 c.*864G>A - 3-UTRSNV 10/10 -
16-53326860-G-A CHD9 c.5406G>A p.Gln1802Gln Synonymous 29/39 -
1-115047484-A-G TRIM33 c.526+5688T>C - IntronicSNV - 1/19
7-138191656-G-A TRIM24 c.483+2503G>A - IntronicSNV - 2/18
3-65466168-G-A MAGI1 c.551-1695C>T - IntronicSNV - 3/22
3-65466168-G-C MAGI1 c.551-1695C>G - IntronicSNV - 3/22
22-22146399-A-G MAPK1 c.610-3302T>C - IntronicSNV - 4/8
15-79235446-T-C CTSH c.91+1787A>G - IntronicSNV - 1/11
19-13024250-A-T SYCE2 c.131+4786T>A - IntronicSNV - 2/5
19-13024250-A-C SYCE2 c.131+4786T>G - IntronicSNV - 2/5
1-249143646-G-T ZNF672 c.*814G>T - 3-UTRSNV 4/4 -
3-30684097-G-A TGFBR2 c.170-2142G>A - IntronicSNV - 2/7
4-80949829-C-G ANTXR2 c.866+2948G>C - IntronicSNV - 10/16
17-74381567-G-A SPHK1 c.1-159G>A - 5-UTRSNV 2/6 -
6-31118019-T-C CCHCR1 c.946-27A>G - IntronicSNV - 7/17
7-123388732-G-T WASL c.57C>A p.Ser19Ser Synonymous 1/11 -
4-80949829-C-T ANTXR2 c.866+2948G>A - IntronicSNV - 10/16
11-31663882-A-T ELP4 c.928-5407A>T - IntronicSNV - 7/9
3-56628031-G-T CCDC66 c.1277G>T p.Arg426Leu Missense 10/18 -
3-56628031-G-A CCDC66 c.1277G>A p.Arg426Gln Missense 10/18 -
11-27516789-C-G LIN7C c.*3407G>C - 3-UTRSNV 5/5 -
20-34252654-A-G RBM12 c.-108+28T>C - intron_variant - 1/2
1-115047549-G-A TRIM33 c.526+5623C>T - IntronicSNV - 1/19
2-188343497-T-G TFPI c.628+5354A>C - IntronicSNV - 6/7
2-188343497-T-C TFPI c.628+5354A>G - IntronicSNV - 6/7
14-24609147-T-C EMC9 c.276-324A>G - IntronicSNV - 3/5
6-31602967-G-A PRRC2A c.5219G>A p.Arg1740His Missense 22/31 -
16-68353664-G-A PRMT7 c.96-1665G>A - IntronicSNV - 3/18
16-68353664-G-C PRMT7 c.96-1665G>C - IntronicSNV - 3/18
3-49719729-G-T APEH c.1604-52G>T - IntronicSNV - 17/21
20-33907161-T-C UQCC1 c.574-4593A>G - IntronicSNV - 7/9
13-99167654-A-C STK24 c.309+3843T>G - IntronicSNV - 2/10
4-74275821-A-G ALB c.616-208A>G - IntronicSNV - 5/14
6-17665479-G-C NUP153 c.1206C>G p.Asn402Lys Missense 9/23 -
5-74636484-C-A HMGCR c.1-1947C>A - IntronicSNV - 1/19
4-170626552-T-A CLCN3 c.1669+1217T>A - IntronicSNV - 9/11
11-64048912-C-T BAD c.187+2742G>A - IntronicSNV - 2/3
8-145742879-T-C RECQL4 c.132A>G p.Glu44Glu Synonymous 3/22 -
11-102070639-A-G YAP1 c.689-5985A>G - IntronicSNV - 3/6
2-198285554-C-T SF3B1 c.300+199G>A - IntronicSNV - 3/4
7-103627369-A-C RELN c.226+2209T>G - IntronicSNV - 1/64
12-11183217-C-T TAS2R31 c.718G>A p.Val240Ile Missense 1/1 -
2-198285554-C-G SF3B1 c.300+199G>C - IntronicSNV - 3/4
2-11723021-C-T GREB1 c.901+2063C>T - IntronicSNV - 7/32
7-89997020-T-C GTPBP10 c.465-4449T>C - IntronicSNV - 4/9
7-89997020-T-A GTPBP10 c.465-4449T>A - IntronicSNV - 4/9
7-1888185-A-G MAD1L1 c.1999-32321T>C - IntronicSNV - 18/18
2-242269024-A-G SEPT2 c.130+3496A>G - IntronicSNV - 3/12
1-21339644-A-G EIF4G3 c.1-10409T>C - IntronicSNV - 2/31
10-65337153-T-C REEP3 c.105+10983T>C - IntronicSNV - 2/7
10-65337153-T-G REEP3 c.105+10983T>G - IntronicSNV - 2/7
1-158626378-C-T SPTA1 c.2874G>A p.Leu958Leu Synonymous 20/52 -
2-85769711-C-G MAT2A c.792C>G p.Arg264Arg Synonymous 7/9 -
5-96112083-T-A ERAP1 c.2818+25A>T - IntronicSNV - 19/19
5-96112083-T-G ERAP1 c.2818+25A>C - IntronicSNV - 19/19
2-85769711-C-T MAT2A c.792C>T p.Arg264Arg Synonymous 7/9 -
12-46353279-C-T SCAF11 c.219+2204G>A - IntronicSNV - 3/14
2-201185919-C-G SPATS2L c.-72-8235C>G - intron_variant - 1/12
20-32588095-T-C RALY c.-93+6158T>C - intron_variant - 1/8
2-48602252-C-T FOXN2 c.966C>T p.Ser322Ser Synonymous 7/7 -
20-32588095-T-G RALY c.-93+6158T>G - intron_variant - 1/8
6-31116210-G-A CCHCR1 c.1285C>T p.Leu429Leu Synonymous 10/18 -
5-36884166-A-G NIPBL c.-80+6886A>G - intron_variant - 1/45
20-57475191-A-G GNAS c.257+1151A>G - IntronicSNV - 3/12
8-92082663-A-G OTUD6B c.141A>G p.Arg47Arg Synonymous 2/7 -
15-75334184-T-C PPCDC c.136-1598T>C - IntronicSNV - 2/5
1-8424039-C-T RERE c.1740+77G>A - IntronicSNV - 15/22
4-1719620-T-G TMEM129 c.680+259A>C - IntronicSNV - 2/2
17-2262703-C-A SGSM2 c.134-2228C>A - IntronicSNV - 2/23
5-428236-C-A AHRR c.974+115C>A - IntronicSNV - 9/11
6-31238318-G-C HLA-C c.620-56C>G - IntronicSNV - 3/7
6-31238318-G-A HLA-C c.620-56C>T - IntronicSNV - 3/7
1-145442264-T-A TXNIP c.*1045T>A - 3_prime_UTR_variant 8/8 -
1-145442264-T-G TXNIP c.*1045T>G - 3_prime_UTR_variant 8/8 -
5-150440097-G-A TNIP1 c.358-141C>T - IntronicSNV - 4/17
17-79596811-C-A NPLOC4 c.36G>T p.Pro12Pro Synonymous 2/17 -
21-38740824-A-G DYRK1A c.-77+2688A>G - intron_variant - 1/11
2-63149557-G-A EHBP1 c.1291-20296G>A - IntronicSNV - 11/24
17-79596811-C-T NPLOC4 c.36G>A p.Pro12Pro Synonymous 2/17 -
6-31378977-G-A MICA c.454G>A p.Val152Met Missense 3/6 -
20-48600557-T-C SNAI1 c.279T>C p.Asp93Asp Synonymous 2/3 -
20-48600557-T-G SNAI1 c.279T>G p.Asp93Glu Missense 2/3 -
2-188333064-G-A TFPI c.629-405C>T - IntronicSNV - 6/7
11-31515340-G-A IMMP1L c.-93+15726C>T - intron_variant - 1/6
2-242260340-G-T SEPT2 c.1-3308G>T - IntronicSNV - 1/12
2-242260340-G-C SEPT2 c.1-3308G>C - IntronicSNV - 1/12
2-148784324-C-T MBD5 c.-925+5071C>T - intron_variant - 2/14
5-95256974-T-C ELL2 c.196-1725A>G - IntronicSNV - 2/11
2-71633389-C-G ZNF638 c.3132C>G p.Asn1044Lys Missense 19/28 -
2-71633389-C-T ZNF638 c.3132C>T p.Asn1044Asn Synonymous 19/28 -
3-52567014-G-T NT5DC2 c.121+1535C>A - IntronicSNV - 1/13
1-95662658-G-C TMEM56-RWDD3 c.473+23213G>C - IntronicSNV - 6/7
1-183114634-G-T LAMC1 c.*2709G>T - 3-UTRSNV 28/28 -
1-183114634-G-A LAMC1 c.*2709G>A - 3-UTRSNV 28/28 -
1-8658712-T-C RERE c.522+15908A>G - IntronicSNV - 4/22
16-68088485-A-G DUS2 c.273A>G p.Ser91Ser Synonymous 6/17 -
1-8658712-T-G RERE c.522+15908A>C - IntronicSNV - 4/22
6-47542864-C-T CD2AP c.729+877C>T - IntronicSNV - 6/17
6-29910378-C-T HLA-A c.48C>T p.Ala16Ala Synonymous 1/8 -
1-8416957-G-T RERE c.4340-651C>A - IntronicSNV - 20/22
15-75136694-T-C SCAMP2 c.*730A>G - IntergenicSNV 9/9 -
10-7887621-G-A TAF3 c.409+21098G>A - IntronicSNV - 2/6
2-190636411-C-G ORMDL1 c.*82G>C - 3-UTRSNV 5/5 -
17-20919705-G-A USP22 c.691-493C>T - IntronicSNV - 5/12
10-13361976-A-G SEPHS1 c.965-620T>C - IntronicSNV - 8/8
12-66351826-T-C HMGA2 c.283-5199T>C - IntronicSNV - 4/4
20-47881967-C-T ZNFX1 c.2003-566G>A - IntronicSNV - 4/13
10-65318766-G-T REEP3 c.33-7332G>T - IntronicSNV - 1/7
5-137892170-G-A HSPA9 c.1933C>T p.Leu645Leu Synonymous 16/17 -
10-114767771-G-A TCF7L2 c.382-32013G>A - IntronicSNV - 3/13
1-207927153-T-C CD46 c.97+1499T>C - IntronicSNV - 1/9
16-28617128-T-C SULT1A1 c.*14A>G - 3-UTRSNV 8/8 -
17-47132819-T-A IGF2BP1 c.*6013T>A - 3-UTRSNV 15/15 -
1-183094547-T-C LAMC1 c.2663T>C p.Leu888Pro Missense 15/28 -
6-32127477-C-A PPT2 c.728+1776C>A - IntronicSNV - 7/8
3-52325759-A-G GLYCTK c.530-4A>G - IntronicSNV - 3/4
19-10475652-C-A TYK2 c.1084G>T p.Val362Phe Missense 8/25 -
20-47686290-G-A CSE1L c.676-452G>A - IntronicSNV - 7/24
8-17820714-A-T PCM1 c.2568A>T p.Leu856Leu Synonymous 17/39 -
18-56402795-A-G MALT1 c.1603+234A>G - IntronicSNV - 13/16
2-69974873-C-A ANXA4 c.-47+5566C>A - intron_variant - 1/12
15-42072530-C-G MAPKBP1 c.114+4943C>G - IntronicSNV - 2/30
4-74275821-A-T ALB c.616-208A>T - IntronicSNV - 5/14
17-76375095-A-G PGS1 c.143+206A>G - IntronicSNV - 1/9
18-44664304-G-A HDHD2 c.1-1494C>T - IntronicSNV - 1/6
1-155944189-T-G ARHGEF2 c.-19+3669A>C - intron_variant - 1/21
4-1236502-C-G CTBP1 c.41-4377G>C - IntronicSNV - 1/8
15-99282558-A-T IGF1R c.640+31222A>T - IntronicSNV - 2/20
6-30867106-C-T DDR1 c.*33C>T - 3-UTRSNV 17/17 -
1-109929237-G-A SORT1 c.306+10972C>T - IntronicSNV - 1/19
7-106777203-T-G PRKAR2B c.481-4089T>G - IntronicSNV - 4/10
6-30313340-G-C TRIM39-RPP21 c.1278G>C p.Gln426His Missense 8/10 -
8-38031345-A-G LSM1 c.47-1794T>C - IntronicSNV - 1/3
4-1701317-G-A SLBP c.453C>T p.Tyr151Tyr Synonymous 5/8 -
20-25241295-A-G PYGB c.345+1321A>G - IntronicSNV - 2/19
2-239349362-G-A ASB1 c.495-3621G>A - IntronicSNV - 3/4
1-169446183-A-G SLC19A2 c.807+210T>C - IntronicSNV - 2/5
22-22212469-T-A MAPK1 c.119+9143A>T - IntronicSNV - 1/8
22-22212469-T-C MAPK1 c.119+9143A>G - IntronicSNV - 1/8
4-18017730-T-C LCORL c.154+5491A>G - IntronicSNV - 1/6
15-89868256-A-C POLG c.1949+425T>G - IntronicSNV - 10/22
3-52720080-A-C GNL3 c.1-29A>C - 5-UTRSNV 1/15 -
17-53369594-A-G HLF c.452-22994A>G - IntronicSNV - 2/3
19-34766588-G-A KIAA0355 c.-796+21069G>A - intron_variant - 1/13
3-52720080-A-T GNL3 c.1-29A>T - 5-UTRSNV 1/15 -
3-52720080-A-G GNL3 c.1-29A>G - 5-UTRSNV 1/15 -
3-48464503-C-T PLXNB1 c.1108-147G>A - IntronicSNV - 3/37
7-89986525-A-G GTPBP10 c.464+1981A>G - IntronicSNV - 4/9
7-92244422-C-T CDK6 c.*32G>A - 3-UTRSNV 8/8 -
7-89986525-A-C GTPBP10 c.464+1981A>C - IntronicSNV - 4/9
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
17-56584508-T-C MTMR4 c.838A>G p.Ser280Gly Missense 9/19 -
15-99284680-G-A IGF1R c.640+33344G>A - IntronicSNV - 2/20
16-67981896-A-G SLC12A4 c.1847+68T>C - IntronicSNV - 14/23
10-21830104-A-G MLLT10 c.240+2263A>G - IntronicSNV - 3/22
21-44482936-C-T CBS c.954+127G>A - IntronicSNV - 10/16
21-40714646-A-G HMGN1 c.*392T>C - 3-UTRSNV 6/6 -
6-41536427-C-T FOXP4 c.204+2725C>T - IntronicSNV - 2/16
9-107588777-C-T ABCA1 c.2337+452G>A - IntronicSNV - 16/49
13-40239785-G-T COG6 c.428+494G>T - IntronicSNV - 4/18
20-34383634-A-G PHF20 c.1-5811A>G - IntronicSNV - 1/17
2-11736037-A-T GREB1 c.1826-200A>T - IntronicSNV - 12/32
6-5260936-A-C LYRM4 c.31T>G p.Ser11Ala Missense 1/3 -
11-86860509-G-A TMEM135 c.397-7874G>A - IntronicSNV - 4/14
2-11736037-A-G GREB1 c.1826-200A>G - IntronicSNV - 12/32
2-11736037-A-C GREB1 c.1826-200A>C - IntronicSNV - 12/32
17-53372566-G-T HLF c.452-20022G>T - IntronicSNV - 2/3
16-68331890-G-A SLC7A6 c.*659G>A - 3-UTRSNV 11/11 -
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
5-131714409-C-T SLC22A5 c.497+236C>T - IntronicSNV - 2/9
3-38442490-G-A XYLB c.1533+14G>A - IntronicSNV - 18/18
5-95278679-G-C ELL2 c.195+27C>G - IntronicSNV - 2/11
1-207940853-T-A CD46 c.856+313T>A - IntronicSNV - 6/9
1-6279370-G-C RNF207 c.1808G>C p.Gly603Ala Missense 18/18 -
7-72934510-A-G BAZ1B c.107+1647T>C - IntronicSNV - 1/19
2-27815510-A-T ZNF512 c.90-5424A>T - IntronicSNV - 2/13
10-81114813-C-G PPIF c.*1215C>G - 3-UTRSNV 6/6 -
3-50242765-C-G SLC38A3 c.-68C>G - 5_prime_UTR_variant 1/16 -
17-2266799-G-T SGSM2 c.713G>T p.Arg238Met Missense 7/24 -
17-2266799-G-C SGSM2 c.713G>C p.Arg238Thr Missense 7/24 -
17-2266799-G-A SGSM2 c.713G>A p.Arg238Lys Missense 7/24 -
1-153906397-A-T DENND4B c.2942-50T>A - IntronicSNV - 19/27
1-153906397-A-G DENND4B c.2942-50T>C - IntronicSNV - 19/27
10-46013277-A-C MARCH8 c.102+15281T>G - IntronicSNV - 2/6
16-56969148-G-A HERPUD1 c.149G>A p.Arg50His Missense 2/8 -
20-21142523-C-G KIZ c.417C>G p.His139Gln Missense 5/14 -
20-21142523-C-A KIZ c.417C>A p.His139Gln Missense 5/14 -
6-31843924-C-T SLC44A4 c.90-18G>A - IntronicSNV - 2/19
2-161171454-T-C RBMS1 c.311-1696A>G - IntronicSNV - 3/13
6-167442995-C-G FGFR1OP c.988+2892C>G - IntronicSNV - 10/12
2-219102332-C-T ARPC2 c.269-1055C>T - IntronicSNV - 4/9
1-156260301-C-T TMEM79 c.972-875C>T - IntronicSNV - 3/3
1-155947875-A-G ARHGEF2 c.-36T>C - 5_prime_UTR_variant 1/22 -
1-26609259-C-T UBXN11 c.1074G>A p.Thr358Thr Synonymous 14/15 -
2-27815510-A-C ZNF512 c.90-5424A>C - IntronicSNV - 2/13
7-2822986-T-A GNA12 c.525+11576A>T - IntronicSNV - 2/3
7-2822986-T-C GNA12 c.525+11576A>G - IntronicSNV - 2/3
6-111695268-C-G REV3L c.4290G>C p.Val1430Val Synonymous 14/33 -
20-25278261-A-C PYGB c.*1103A>C - 3-UTRSNV 20/20 -
1-93174215-T-C EVI5 c.282-3914A>G - IntronicSNV - 2/17
20-21142523-C-T KIZ c.417C>T p.His139His Synonymous 5/14 -
1-109877506-A-G SORT1 c.1371+1356T>C - IntronicSNV - 11/19
19-11256176-C-T SPC24 c.*1683G>A - IntergenicSNV 5/5 -
11-95992129-G-T MAML2 c.513+82418C>A - IntronicSNV - 1/4
11-95992129-G-A MAML2 c.513+82418C>T - IntronicSNV - 1/4
1-29244451-G-T EPB41 c.-715+30729G>T - intron_variant - 1/20
1-8413317-A-C RERE c.*1830T>G - 3-UTRSNV 23/23 -
1-29244451-G-A EPB41 c.-715+30729G>A - intron_variant - 1/20
2-61596180-A-G USP34 c.1251+1276T>C - IntronicSNV - 10/79
1-8659282-T-C RERE c.522+15338A>G - IntronicSNV - 4/22
1-8659282-T-A RERE c.522+15338A>T - IntronicSNV - 4/22
5-96244549-C-T ERAP2 c.2013-116C>T - IntronicSNV - 13/18
17-64324384-C-T PRKCA c.205+22139C>T - IntronicSNV - 2/16
17-41845824-G-A DUSP3 c.*1153C>T - 3-UTRSNV 3/3 -
1-155940948-T-G ARHGEF2 c.1-1875A>C - IntronicSNV - 1/21
5-122685128-A-G CEP120 c.2726+510T>C - IntronicSNV - 20/20
11-27517670-T-A LIN7C c.*2526A>T - 3-UTRSNV 5/5 -
11-27517670-T-C LIN7C c.*2526A>G - 3-UTRSNV 5/5 -
12-58145156-C-G CDK4 c.219-31G>C - IntronicSNV - 2/7
1-155878732-A-G RIT1 c.163+1509T>C - IntronicSNV - 3/5
12-58145156-C-T CDK4 c.219-31G>A - IntronicSNV - 2/7
9-131910805-A-G PTPA c.*1062A>G - 3-UTRSNV 11/11 -
7-73010442-C-T MLXIPL c.2058+41G>A - IntronicSNV - 13/16
2-27840640-G-A ZNF512 c.1395+202G>A - IntronicSNV - 13/13
9-131910805-A-T PTPA c.*1062A>T - 3-UTRSNV 11/11 -
7-72991593-G-C TBL2 c.130+1157C>G - IntronicSNV - 1/6
7-72991593-G-A TBL2 c.130+1157C>T - IntronicSNV - 1/6
2-27840640-G-C ZNF512 c.1395+202G>C - IntronicSNV - 13/13
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
19-11243735-C-T LDLR c.*1743C>T - 3-UTRSNV 18/18 -
2-61647901-A-G USP34 c.111T>C p.Tyr37Tyr Synonymous 2/80 -
15-66070693-C-A DENND4A c.-95+13655G>T - intron_variant - 1/31
15-66070693-C-T DENND4A c.-95+13655G>A - intron_variant - 1/31
8-117762990-G-T EIF3H c.132+4915C>A - IntronicSNV - 1/7
18-44675462-G-T HDHD2 c.-11+1287C>A - intron_variant - 1/6
1-109946882-T-A PSMA5 c.649-2170A>T - IntronicSNV - 8/8
6-31600851-G-T PRRC2A c.4319+82G>T - IntronicSNV - 16/30
8-117762990-G-A EIF3H c.132+4915C>T - IntronicSNV - 1/7
4-74285239-C-G ALB c.1668C>G p.Leu556Leu Synonymous 13/15 -
1-113193364-G-A CAPZA1 c.155+1273G>A - IntronicSNV - 3/9
1-155939164-C-T ARHGEF2 c.1-91G>A - IntronicSNV 1/22 -
16-11189888-T-C CLEC16A c.2117-24584T>C - IntronicSNV - 19/23
4-74277360-G-T ALB c.714-353G>T - IntronicSNV - 6/14
4-74277360-G-C ALB c.714-353G>C - IntronicSNV - 6/14
13-25009441-C-G PARP4 c.3838G>C p.Gly1280Arg Missense 31/34 -
5-179168097-T-C MAML1 c.315+7669T>C - IntronicSNV - 1/4
19-55527189-G-T GP6 c.725-88C>A - IntronicSNV - 6/7
13-25010544-T-A PARP4 c.3667-932A>T - IntronicSNV - 30/33
21-40683459-C-T BRWD1 c.198+1308G>A - IntronicSNV - 4/40
2-68479576-G-A PPP3R1 c.1-317C>T - 5-UTRSNV 1/6 -
9-133762590-G-A ABL1 c.*1520G>A - 3-UTRSNV 11/11 -
8-15530768-C-T TUSC3 c.709-488C>T - IntronicSNV - 5/10
21-40669083-G-T BRWD1 c.350-794C>A - IntronicSNV - 5/40
3-53857803-A-C CHDH c.233T>G p.Leu78Arg Missense 3/9 -
6-41517564-G-C FOXP4 c.-17+2959G>C - intron_variant - 1/16
6-41517564-G-A FOXP4 c.-17+2959G>A - intron_variant - 1/16
21-44487404-T-C CBS c.317-917A>G - IntronicSNV - 4/16
3-49721532-G-A MST1 c.2107C>T p.Arg703Cys Missense 18/18 -
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
11-77930138-T-C GAB2 c.*180A>G - 3-UTRSNV 10/10 -
13-25009441-C-A PARP4 c.3838G>T p.Gly1280Cys Missense 31/34 -
11-78128797-C-T GAB2 c.1-31G>A - 5-UTRSNV 1/10 -
13-25014523-G-A PARP4 c.3666+1461C>T - IntronicSNV - 30/33
8-22262321-T-C SLC39A14 c.98T>C p.Leu33Pro Missense 2/9 -
2-40001014-G-T THUMPD2 c.127-2234C>A - IntronicSNV - 1/9
11-68347870-A-G PPP6R3 c.1392+4359A>G - IntronicSNV - 14/22
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
20-21150633-T-C KIZ c.1352+6833T>C - IntronicSNV - 6/13
3-30679970-C-A TGFBR2 c.170-6269C>A - IntronicSNV - 2/7
3-52725771-G-T GNL3 c.869+126G>T - IntronicSNV - 9/14
6-10982359-G-A ELOVL2 c.*1655C>T - 3-UTRSNV 8/8 -
15-91425232-C-T FURIN c.*124C>T - 3-UTRSNV 16/16 -
1-115047484-A-C TRIM33 c.526+5688T>G - IntronicSNV - 1/19
16-28836205-T-C ATXN2L c.300-482T>C - IntronicSNV - 1/21
5-95261538-C-G ELL2 c.196-6289G>C - IntronicSNV - 2/11
16-52575907-A-G TOX3 c.87+4642T>C - IntronicSNV - 1/6
4-6883012-C-T KIAA0232 c.*319C>T - 3-UTRSNV 10/10 -
6-34824636-A-T UHRF1BP1 c.1361A>T p.Gln454Leu Missense 11/21 -
10-81110417-G-C PPIF c.316-826G>C - IntronicSNV - 3/5
20-33619480-A-C TRPC4AP c.1051+3446T>G - IntronicSNV - 8/18
20-33619480-A-T TRPC4AP c.1051+3446T>A - IntronicSNV - 8/18
10-81114060-G-A PPIF c.*462G>A - 3-UTRSNV 6/6 -
17-53372566-G-C HLF c.452-20022G>C - IntronicSNV - 2/3
1-153779412-A-G GATAD2B c.*3241T>C - 3-UTRSNV 11/11 -
1-29508350-C-T SRSF4 c.1-86G>A - 5-UTRSNV 1/6 -
15-66064183-C-T DENND4A c.-94-10407G>A - intron_variant - 1/31
17-38179492-A-G MED24 c.2142T>C p.Ile714Ile Synonymous 20/26 -
12-48518264-A-C PFKM c.85+1622A>C - IntronicSNV - 2/22
21-40627325-C-A BRWD1 c.2255+246G>T - IntronicSNV - 19/40
21-40627325-C-G BRWD1 c.2255+246G>C - IntronicSNV - 19/40
19-1413078-A-G DAZAP1 c.30-4421A>G - IntronicSNV - 1/12
6-131926334-C-T MED23 c.1613+46G>A - IntronicSNV - 14/29
1-231172810-A-G FAM89A c.291+2857T>C - IntronicSNV - 1/1
1-231172810-A-C FAM89A c.291+2857T>G - IntronicSNV - 1/1
2-105882761-G-A TGFBRAP1 c.*1079C>T - IntergenicSNV 12/12 -
22-22120452-T-C MAPK1 c.*3041A>G - IntronicSNV 9/9 -
5-115512352-G-A COMMD10 c.510+42477G>A - IntronicSNV - 5/6
8-8888948-A-G ERI1 c.*1404A>G - 3-UTRSNV 7/7 -
5-95278019-A-G ELL2 c.195+687T>C - IntronicSNV - 2/11
1-59139223-C-G MYSM1 c.1572+22G>C - IntronicSNV - 11/19
7-92248076-C-T CDK6 c.699-555G>A - IntronicSNV - 6/7
16-71965196-C-A PKD1L3 c.4921-1110G>T - intron_variant - 29/30
17-47084711-G-C IGF2BP1 c.236+8180G>C - IntronicSNV - 2/14
17-47084711-G-A IGF2BP1 c.236+8180G>A - IntronicSNV - 2/14
7-106777203-T-C PRKAR2B c.481-4089T>C - IntronicSNV - 4/10
16-579900-A-G CAPN15 c.-190+1871A>G - intron_variant - 1/13
2-27599132-G-A SNX17 c.1183-48G>A - IntronicSNV - 12/14
15-91426560-G-C FURIN c.*1452G>C - 3-UTRSNV 16/16 -
15-91426560-G-A FURIN c.*1452G>A - 3-UTRSNV 16/16 -
10-46024729-A-G MARCH8 c.102+3829T>C - IntronicSNV - 2/6
5-664084-G-A TPPP c.*1133C>T - 3-UTRSNV 4/4 -
16-11158885-G-T CLEC16A c.2116+4006G>T - IntronicSNV - 19/23
12-103246261-A-G PAH c.842+332T>C - IntronicSNV - 7/12
1-25169634-A-G CLIC4 c.*2206A>G - 3-UTRSNV 6/6 -
20-48522330-G-A SPATA2 c.1389C>T p.Cys463Cys Synonymous 3/3 -
11-17395540-T-C NCR3LG1 c.*1481T>C - 3-UTRSNV 5/5 -
11-17395540-T-A NCR3LG1 c.*1481T>A - 3-UTRSNV 5/5 -
17-39962288-C-A P3H4 c.1146+760G>T - IntronicSNV - 6/7
17-39962288-C-G P3H4 c.1146+760G>C - IntronicSNV - 6/7
19-11242307-G-C LDLR c.*315G>C - 3-UTRSNV 18/18 -
11-57510294-A-G SELENOH c.*31-41A>G - intron_variant - 3/3
9-101911656-A-G TGFBR1 c.*69A>G - 3-UTRSNV 8/8 -
8-109225725-G-A EIF3E c.1061+1111C>T - IntronicSNV - 10/12
15-89804043-C-T FANCI c.257C>T p.Ala86Val Missense 4/37 -
15-89804043-C-G FANCI c.257C>G p.Ala86Gly Missense 4/37 -
12-112843998-A-T RPL6 c.529+100T>A - IntronicSNV - 5/6
12-112843998-A-G RPL6 c.529+100T>C - IntronicSNV - 5/6
6-31598489-A-G PRRC2A c.2376A>G p.Val792Val Synonymous 15/31 -
12-123466111-C-T ARL6IP4 c.713-7C>T - IntronicSNV - 2/5
7-150667210-C-T KCNH2 c.307+4589G>A - IntronicSNV - 2/14
21-44475786-C-T CBS c.1552+1127G>A - IntronicSNV - 16/16
6-42932202-C-T PEX6 c.2814G>A p.Glu938Glu Synonymous 17/17 -
6-33659472-C-G ITPR3 c.7306C>G p.Leu2436Val Missense 53/58 -
16-11158885-G-A CLEC16A c.2116+4006G>A - IntronicSNV - 19/23
6-31382911-A-G MICA c.*152A>G - 3_prime_UTR_variant 6/6 -
11-69462910-G-A CCND1 c.723G>A p.Pro241Pro Synonymous 4/5 -
17-39962288-C-T P3H4 c.1146+760G>A - IntronicSNV - 6/7
17-74733403-G-A SRSF2 c.1-161C>T - 5-UTRSNV 1/2 -
17-74733403-G-C SRSF2 c.1-161C>G - 5-UTRSNV 1/2 -
6-31861141-A-T EHMT2 c.583-454T>A - IntronicSNV - 4/27
1-2184280-T-C SKI c.969+23106T>C - IntronicSNV - 1/6
5-115511870-A-G COMMD10 c.510+41995A>G - IntronicSNV - 5/6
1-205683355-T-A NUCKS1 c.*4053A>T - 3-UTRSNV 7/7 -
1-113163042-C-A CAPZA1 c.39+537C>A - IntronicSNV - 1/9
4-95129238-T-C SMARCAD1 c.-50+17T>C - intron_variant - 1/23
5-131721174-A-G SLC22A5 c.807A>G p.Leu269Leu Synonymous 4/10 -
10-114754071-T-C TCF7L2 c.381+42705T>C - IntronicSNV - 3/13
7-123370710-A-G WASL c.117+17962T>C - IntronicSNV - 1/10
20-25277244-A-G PYGB c.*86A>G - 3-UTRSNV 20/20 -
9-133755528-A-G ABL1 c.1554A>G p.Glu518Glu Synonymous 9/11 -
13-28197436-C-T POLR1D c.*49C>T - 3-UTRSNV 2/2 -
3-114353168-G-T ZBTB20 c.-350+59207C>A - intron_variant - 5/9
3-114353168-G-A ZBTB20 c.-350+59207C>T - intron_variant - 5/9
6-34759954-A-G UHRF1BP1 c.1-74A>G - 5-UTRSNV 1/21 -
15-89844849-C-T FANCI c.2826+176C>T - IntronicSNV - 26/36
11-5474486-T-C OR51B5 c.-360+52313A>G - intron_variant - 1/4
15-89844849-C-G FANCI c.2826+176C>G - IntronicSNV - 26/36
15-66048958-A-G DENND4A c.1-170T>C - IntronicSNV 1/32 -
11-66050712-G-A CNIH2 c.312-7G>A - IntronicSNV - 4/5
17-27814496-C-T TAOK1 c.656-2186C>T - IntronicSNV - 8/19
15-56382295-A-G RFX7 c.*3248T>C - IntergenicSNV 10/10 -
17-38066240-T-C GSDMB c.408-63A>G - IntronicSNV - 2/7
11-66050712-G-C CNIH2 c.312-7G>C - IntronicSNV - 4/5
20-21146816-A-G KIZ c.1352+3016A>G - IntronicSNV - 6/13
1-111417915-C-A CD53 c.-18+2045C>A - intron_variant - 1/7
3-52835354-C-T ITIH3 c.1383+192C>T - IntronicSNV - 11/21
7-92243672-G-A CDK6 c.*782C>T - 3-UTRSNV 8/8 -
17-38188419-C-T MED24 c.937-76G>A - IntronicSNV - 9/25
21-30717737-T-C BACH1 c.*2583T>C - 3-UTRSNV 5/5 -
17-64307014-G-A PRKCA c.205+4769G>A - IntronicSNV - 2/16
20-33622242-A-C TRPC4AP c.1051+684T>G - IntronicSNV - 8/18
3-128356852-C-T RPN1 c.423G>A p.Pro141Pro Synonymous 3/10 -
8-145737816-C-T RECQL4 c.3014G>A - missense_variant 18/22 -
2-44705615-A-G CAMKMT c.376+88171A>G - IntronicSNV - 3/10
2-44705615-A-T CAMKMT c.376+88171A>T - IntronicSNV - 3/10
8-145037573-T-A PLEC c.193+11772A>T - IntronicSNV - 2/32
1-211922014-A-G LPGAT1 c.*1227T>C - 3-UTRSNV 8/8 -
7-106773708-T-G PRKAR2B c.480+4968T>G - IntronicSNV - 4/10
7-106773708-T-A PRKAR2B c.480+4968T>A - IntronicSNV - 4/10
1-169511555-T-C F5 c.2773A>G p.Lys925Glu Missense 13/25 -
1-113189053-G-A CAPZA1 c.40-779G>A - IntronicSNV - 1/9
5-131660431-A-T SLC22A4 c.824+2383A>T - IntronicSNV - 4/9
10-46013277-A-T MARCH8 c.102+15281T>A - IntronicSNV - 2/6
6-31711124-C-A MSH5 c.415+177C>A - IntronicSNV - 5/24
12-62730305-A-G USP15 c.683+10591A>G - IntronicSNV - 6/20
6-28126834-C-T ZKSCAN8 c.*5039C>T - 3-UTRSNV 7/7 -
11-68235275-G-C PPP6R3 c.-263+6980G>C - intron_variant - 1/22
11-108077181-A-G NPAT c.38-9034T>C - IntronicSNV - 1/17
17-61763185-T-C MAP3K3 c.710+235T>C - IntronicSNV - 8/15
3-49572140-A-G DAG1 c.*1508A>G - 3-UTRSNV 6/6 -
7-124462661-C-A POT1 c.*1355G>T - 3-UTRSNV 18/18 -
7-124462661-C-T POT1 c.*1355G>A - 3-UTRSNV 18/18 -
19-5834212-C-T FUT6 c.-13+749G>A - intron_variant - 2/2
20-33969530-C-G UQCC1 c.333+191G>C - IntronicSNV - 4/9
17-7476549-T-C EIF4A1 c.23+367T>C - IntronicSNV - 1/10
17-37922259-G-A IKZF3 c.1314C>T p.Ser438Ser Synonymous 8/8 -
1-228682330-C-G RNF187 c.*744C>G - 3-UTRSNV 4/4 -
1-183109034-G-A LAMC1 c.4474-505G>A - IntronicSNV - 26/27
12-53670545-C-A ESPL1 c.1842C>A p.Ser614Arg Missense 8/31 -
15-66048958-A-C DENND4A c.1-170T>G - IntronicSNV 1/32 -
5-131660431-A-G SLC22A4 c.824+2383A>G - IntronicSNV - 4/9
8-144995494-C-T PLEC c.8576G>A p.Arg2859His Missense 33/33 -
15-66035718-A-G DENND4A c.562-1596T>C - IntronicSNV - 4/31
16-11963361-A-G GSPT1 c.*3615T>C - 3-UTRSNV 15/15 -
3-27442336-G-A SLC4A7 c.2319C>T p.Asn773Asn Synonymous 16/25 -
1-162085309-C-T NOS1AP c.106-38886C>T - IntronicSNV - 1/9
5-36900843-G-A NIPBL c.-80+23563G>A - intron_variant - 1/45
9-111866749-C-G TMEM245 c.799+2039G>C - IntronicSNV - 3/17
16-69605349-T-C NFAT5 c.-218+2898T>C - intron_variant - 2/15
11-69461731-C-T CCND1 c.575-1031C>T - IntronicSNV - 3/4
12-107350988-G-A TMEM263 c.-7+61G>A - intron_variant - 2/3
1-212237798-G-A DTL c.527-461G>A - IntronicSNV - 6/14
1-85787118-G-A DDAH1 c.*17C>T - 3-UTRSNV 7/7 -
1-90102173-C-T LRRC8C c.-5+3292C>T - intron_variant - 1/2
9-131874641-A-G PTPA c.31+731A>G - IntronicSNV - 2/10
12-58133256-G-T AGAP2 c.160+2439C>A - IntronicSNV - 1/17
12-58133256-G-A AGAP2 c.160+2439C>T - IntronicSNV - 1/17
1-242012033-G-C EXO1 c.-314G>C - 5_prime_UTR_variant 1/14 -
1-242012033-G-T EXO1 c.-314G>T - 5_prime_UTR_variant 1/14 -
1-242012033-G-A EXO1 c.-314G>A - 5_prime_UTR_variant 1/14 -
19-11227326-C-A LDLR c.1706-209C>A - IntronicSNV - 11/17
19-11227326-C-G LDLR c.1706-209C>G - IntronicSNV - 11/17
21-47669300-C-A MCM3AP c.4290+2143G>T - IntronicSNV - 20/27
12-110719192-C-G ATP2A2 c.1-403C>G - 5-UTRSNV 1/21 -
2-61762161-A-G XPO1 c.1-1129T>C - IntronicSNV - 1/24
17-2268311-G-A SGSM2 c.1121G>A p.Arg374Gln Missense 10/24 -
17-37976469-C-T IKZF3 c.163+9171G>A - IntronicSNV - 3/7
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
12-94092690-C-G CRADD c.298+19842C>G - IntronicSNV - 2/2
2-27600239-G-A SNX17 c.*653G>A - 3-UTRSNV 15/15 -
6-5262235-G-T FARS2 c.-22+342G>T - intron_variant - 1/6
3-30710140-G-T TGFBR2 c.530-2990G>T - IntronicSNV - 4/7
11-3010390-C-T NAP1L4 c.-18+3094G>A - intron_variant - 1/15
11-3010390-C-G NAP1L4 c.-18+3094G>C - intron_variant - 1/15
19-6713175-G-T C3 c.1003+25C>A - IntronicSNV - 9/40
19-6713175-G-C C3 c.1003+25C>G - IntronicSNV - 9/40
15-99281833-C-A IGF1R c.640+30497C>A - IntronicSNV - 2/20
15-99281833-C-G IGF1R c.640+30497C>G - IntronicSNV - 2/20
17-47370449-T-C ZNF652 c.*5326A>G - 3-UTRSNV 6/6 -
5-131633355-T-C SLC22A4 c.393+2653T>C - IntronicSNV - 1/9
11-47440758-G-A PSMC3 c.1128-10C>T - IntronicSNV - 10/11
20-48599561-G-C SNAI1 c.1-36G>C - 5-UTRSNV 1/3 -
6-34763982-C-T UHRF1BP1 c.44+3911C>T - IntronicSNV - 1/20
16-28921809-T-C RABEP2 c.1089+400A>G - IntronicSNV - 7/12
2-61763165-T-C XPO1 c.-7+1532A>G - intron_variant - 1/24
2-61763165-T-A XPO1 c.-7+1532A>T - intron_variant - 1/24
18-34376565-C-T TPGS2 c.*203G>A - 3-UTRSNV 7/7 -
17-80051183-A-G FASN c.567T>C p.Asn189Asn Synonymous 5/43 -
16-68326200-A-C SLC7A6 c.1022+636A>C - IntronicSNV - 7/10
2-42276452-G-A PKDCC c.639+474G>A - IntronicSNV - 1/6
12-62743348-T-A USP15 c.684-5764T>A - IntronicSNV - 6/20
6-131924689-G-A MED23 c.1757-345C>T - IntronicSNV - 15/29
6-131924689-G-T MED23 c.1757-345C>A - IntronicSNV - 15/29
3-53849510-A-T CHDH c.*2294T>A - IntergenicSNV 9/9 -
6-31637734-A-T CSNK2B c.*31A>T - 3-UTRSNV 7/7 -
3-38528537-G-A ACVR2B c.*3714G>A - 3-UTRSNV 11/11 -
3-38528537-G-T ACVR2B c.*3714G>T - 3-UTRSNV 11/11 -
21-44478393-G-A CBS c.1359-30C>T - IntronicSNV - 14/16
7-100286435-G-A GIGYF1 c.1-574C>T - 5-UTRSNV 1/24 -
7-100286435-G-C GIGYF1 c.1-574C>G - 5-UTRSNV 1/24 -
3-39111140-C-A WDR48 c.577C>A p.Arg193Arg Synonymous 7/19 -
4-735150-G-A PCGF3 c.263-2112G>A - IntronicSNV - 6/10
15-50946815-A-G TRPM7 c.122+3163T>C - IntronicSNV - 3/38
17-53356126-G-T HLF c.451+10679G>T - IntronicSNV - 2/3
1-8425798-C-T RERE c.1447+74G>A - IntronicSNV - 13/22
10-71093392-C-T HK1 c.64-10191C>T - IntronicSNV - 1/17
6-5262230-A-G FARS2 c.-22+337A>G - intron_variant - 1/6
2-198164530-A-G ANKRD44 c.27+10772T>C - IntronicSNV - 1/9
20-21146839-T-C KIZ c.1352+3039T>C - IntronicSNV - 6/13
20-21146839-T-A KIZ c.1352+3039T>A - IntronicSNV - 6/13
3-38528537-G-C ACVR2B c.*3714G>C - 3-UTRSNV 11/11 -
12-111175557-C-A PPP1CC c.55+4901G>T - IntronicSNV - 1/7
16-11154770-G-A CLEC16A c.2007G>A p.Val669Val Synonymous 19/24 -
1-11858550-C-T MTHFR c.586+1719G>A - IntronicSNV - 4/11
7-72857049-A-G BAZ1B c.4094+6T>C - IntronicSNV - 18/19
1-65822517-G-C DNAJC6 c.194-7801G>C - IntronicSNV - 1/18
9-38041142-T-G SHB c.718-25014A>C - IntronicSNV - 1/5
1-41556253-C-T SCMH1 c.716-15130G>A - IntronicSNV - 8/15
11-68192346-T-G LRP5 c.3237-224T>G - IntronicSNV - 14/22
12-120894685-C-T GATC c.255-194C>T - IntronicSNV - 2/3
7-150647970-C-G KCNH2 c.2145+39G>C - IntronicSNV - 8/14
11-17394073-C-G NCR3LG1 c.*14C>G - 3-UTRSNV 5/5 -
4-155488821-C-T FGB c.567C>T p.Ser189Ser Synonymous 4/8 -
6-167442995-C-T FGFR1OP c.988+2892C>T - IntronicSNV - 10/12
12-53682457-G-A ESPL1 c.4682G>A p.Arg1561Gln Missense 20/31 -
12-122630285-G-A MLXIP c.*3926G>A - 3_prime_UTR_variant 17/17 -
15-89863928-T-G POLG c.2981+69A>C - IntronicSNV - 18/22
15-99282558-A-G IGF1R c.640+31222A>G - IntronicSNV - 2/20
15-89844688-A-C FANCI c.2826+15A>C - IntronicSNV - 26/36
6-127600630-G-A RNF146 c.-348-746G>A - intron_variant - 1/4
3-53857803-A-T CHDH c.233T>A p.Leu78His Missense 3/9 -
10-71099888-G-A HK1 c.64-3695G>A - IntronicSNV - 1/17
4-74316729-G-C AFP c.1428+259G>C - IntronicSNV - 11/14
4-74316729-G-A AFP c.1428+259G>A - IntronicSNV - 11/14
20-48600809-G-A SNAI1 c.531G>A p.Thr177Thr Synonymous 2/3 -
20-48600809-G-T SNAI1 c.531G>T p.Thr177Thr Synonymous 2/3 -
2-219432953-G-C USP37 c.-282C>G - 5_prime_UTR_variant 1/26 -
12-53727955-G-C SP7 c.21+1455C>G - IntronicSNV - 2/2
3-53849510-A-G CHDH c.*2294T>C - IntergenicSNV 9/9 -
6-5262233-A-G FARS2 c.-22+340A>G - intron_variant - 1/6
16-87876812-T-C SLC7A5 c.665-2051A>G - IntronicSNV - 2/9
17-53364788-C-A HLF c.451+19341C>A - IntronicSNV - 2/3
9-107589134-A-T ABCA1 c.2337+95T>A - IntronicSNV - 16/49
2-61741947-T-C XPO1 c.301+7799A>G - IntronicSNV - 4/24
17-53364788-C-G HLF c.451+19341C>G - IntronicSNV - 2/3
17-80111026-T-C CCDC57 c.2241+4598A>G - IntronicSNV - 14/16
6-5262220-C-G FARS2 c.-22+327C>G - intron_variant - 1/6
11-46849360-G-A CKAP5 c.1-6578C>T - IntronicSNV - 1/42
5-1322087-C-T CLPTM1L c.1316-153G>A - IntronicSNV - 13/16
17-80112223-C-A CCDC57 c.2241+3401G>T - IntronicSNV - 14/16
17-80112223-C-T CCDC57 c.2241+3401G>A - IntronicSNV - 14/16
5-95246867-G-A ELL2 c.481+2608C>T - IntronicSNV - 4/11
12-62740429-A-G USP15 c.684-8683A>G - IntronicSNV - 6/20
15-65979132-A-G DENND4A c.4047+3621T>C - IntronicSNV - 22/31
7-123388732-G-A WASL c.57C>T p.Ser19Ser Synonymous 1/11 -
7-150648789-T-C KCNH2 c.1692A>G p.Leu564Leu Synonymous 7/15 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
20-25458320-T-C NINL c.2202-595A>G - IntronicSNV - 16/23
10-1102386-G-A WDR37 c.-563G>A - 5_prime_UTR_variant 1/14 -
10-114808072-T-C TCF7L2 c.483+8187T>C - IntronicSNV - 4/13
9-100684719-A-C TRMO c.57T>G p.Val19Val Synonymous 1/5 -
8-121627640-G-A SNTB1 c.996+17044C>T - IntronicSNV - 3/6
1-61639503-G-A NFIA c.559+85151G>A - IntronicSNV - 2/9
1-169499951-C-T F5 c.5208+73G>A - IntronicSNV - 15/24
1-169512120-G-A F5 c.2208C>T p.Ile736Ile Synonymous 13/25 -
20-34243017-C-T RBM12 c.228G>A p.Lys76Lys Synonymous 3/3 -
1-90356728-C-T LRRC8D c.1-41900C>T - IntronicSNV - 2/2
1-234584231-C-T TARBP1 c.1956G>A p.Gln652Gln Synonymous 11/30 -
1-242040775-C-T EXO1 c.1515-1276C>T - IntronicSNV - 10/13
15-58245986-T-A ALDH1A2 c.*1409A>T - 3-UTRSNV 14/14 -
11-46392825-C-G DGKZ c.1135-38C>G - IntronicSNV - 7/31
11-46392825-C-T DGKZ c.1135-38C>T - IntronicSNV - 7/31
1-59162148-T-C MYSM1 c.69-1269A>G - IntronicSNV - 1/19
6-167437162-T-A FGFR1OP c.806+1039T>A - IntronicSNV - 8/12
16-67980969-G-C SLC12A4 c.2112C>G p.Leu704Leu Synonymous 17/24 -
16-67980969-G-A SLC12A4 c.2112C>T p.Leu704Leu Synonymous 17/24 -
4-1238859-G-C CTBP1 c.40+3845C>G - IntronicSNV - 1/8
4-1238859-G-A CTBP1 c.40+3845C>T - IntronicSNV - 1/8
2-11722575-A-G GREB1 c.901+1617A>G - IntronicSNV - 7/32
2-242272388-A-G SEPT2 c.131-2153A>G - IntronicSNV - 3/12
2-216295312-T-A FN1 c.685+126A>T - IntronicSNV - 5/43
7-150933044-C-T CHPF2 c.828+346C>T - IntronicSNV - 2/3
6-31380529-A-G MICA c.*321A>G - IntronicSNV - 5/5
5-446923-G-A EXOC3 c.144+459G>A - IntronicSNV - 2/12
6-31380529-A-T MICA c.*321A>T - IntronicSNV - 5/5
21-40672344-G-A BRWD1 c.199-1836C>T - IntronicSNV - 4/40
9-111809295-A-C TMEM245 c.2123+3268T>G - IntronicSNV - 14/17
15-99282587-G-A IGF1R c.640+31251G>A - IntronicSNV - 2/20
6-111803059-T-C REV3L c.139+894A>G - IntronicSNV - 2/32
2-71566841-G-C ZNF638 c.-203+7836G>C - intron_variant - 1/27
11-126277216-C-T ST3GAL4 c.240C>T p.Tyr80Tyr Synonymous 5/11 -
5-110435490-C-G WDR36 c.578-798C>G - IntronicSNV - 4/22
12-112190438-C-A ACAD10 c.2818-1138C>A - IntronicSNV - 18/20
3-48463711-T-C PLXNB1 c.1419+29A>G - IntronicSNV - 5/37
5-110435490-C-T WDR36 c.578-798C>T - IntronicSNV - 4/22
1-89271574-T-C PKN2 c.1677T>C p.Ser559Ser Synonymous 12/22 -
1-26884864-G-A RPS6KA1 c.1085-434G>A - IntronicSNV - 13/21
13-25010544-T-C PARP4 c.3667-932A>G - IntronicSNV - 30/33
7-107566430-A-G LAMB1 c.5064+198T>C - IntronicSNV - 32/33
17-80114145-C-T CCDC57 c.2241+1479G>A - IntronicSNV - 14/16
17-80114145-C-G CCDC57 c.2241+1479G>C - IntronicSNV - 14/16
7-106782683-G-A PRKAR2B c.587+1285G>A - IntronicSNV - 5/10
20-21218023-C-T KIZ c.1877+4555C>T - intron_variant - 12/13
2-219302466-G-A VIL1 c.2160+431G>A - IntronicSNV - 17/19
1-158586966-A-T SPTA1 c.6600+361T>A - IntronicSNV - 47/51
7-107569517-A-G LAMB1 c.4879T>C p.Leu1627Leu Synonymous 31/34 -
17-2266812-T-C SGSM2 c.726T>C p.Cys242Cys Synonymous 7/24 -
17-2266812-T-G SGSM2 c.726T>G p.Cys242Trp Missense 7/24 -
6-31106459-C-A PSORS1C1 c.70C>A p.Pro24Thr Missense 5/6 -
6-31106459-C-T PSORS1C1 c.70C>T p.Pro24Ser Missense 5/6 -
17-42254011-C-T ASB16 c.570-95C>T - IntronicSNV - 2/4
7-2795957-A-G GNA12 c.526-22822T>C - IntronicSNV - 2/3
6-33659046-G-C ITPR3 c.7225+160G>C - IntronicSNV - 52/57
6-33659046-G-A ITPR3 c.7225+160G>A - IntronicSNV - 52/57
17-42254011-C-G ASB16 c.570-95C>G - IntronicSNV - 2/4
21-40549466-T-C PSMG1 c.687A>G p.Pro229Pro Synonymous 6/7 -
17-20903776-T-C USP22 c.*2568A>G - 3-UTRSNV 13/13 -
18-56384192-T-A MALT1 c.1018+993T>A - IntronicSNV - 9/16
5-131633355-T-A SLC22A4 c.393+2653T>A - IntronicSNV - 1/9
19-10397238-C-T ICAM1 c.*1275C>T - 3-UTRSNV 7/7 -
1-54233511-T-C NDC1 c.*132A>G - 3-UTRSNV 18/18 -
11-64573589-T-C MEN1 c.1064+115A>G - IntronicSNV - 7/9
11-64573589-T-G MEN1 c.1064+115A>C - IntronicSNV - 7/9
2-61762384-G-T XPO1 c.1-1352C>A - IntronicSNV - 1/24
16-12006338-C-T GSPT1 c.352+2888G>A - IntronicSNV - 1/14
18-56384192-T-G MALT1 c.1018+993T>G - IntronicSNV - 9/16
12-110002819-A-G MMAB c.348+105T>C - IntronicSNV - 4/8
20-61491494-T-G TCFL5 c.814A>C p.Asn272His Missense 2/6 -
2-11727507-G-A GREB1 c.1160-1365G>A - IntronicSNV - 9/32
19-17389704-G-A BABAM1 c.837G>A p.Lys279Lys Synonymous 9/9 -
16-68269479-A-G ESRP2 c.327+58T>C - IntronicSNV - 2/14
2-97405440-G-A LMAN2L c.187+151C>T - IntronicSNV - 1/7
11-46695414-T-C ATG13 c.*1530T>C - 3_prime_UTR_variant 17/17 -
12-124447841-G-C CCDC92 c.-60+9235C>G - intron_variant - 1/4
6-33658066-G-C ITPR3 c.7032+91G>C - IntronicSNV - 51/57
2-42990336-T-G OXER1 c.984A>C p.Arg328Arg Synonymous 1/1 -
1-54683925-G-C MRPL37 c.*3G>C - 3-UTRSNV 7/7 -
9-131910093-G-T PTPA c.*350G>T - 3-UTRSNV 11/11 -
6-31130593-G-A TCF19 c.*99G>A - 3-UTRSNV 4/4 -
9-131910093-G-A PTPA c.*350G>A - 3-UTRSNV 11/11 -
8-30924557-C-T WRN c.513C>T p.Cys171Cys Synonymous 6/35 -
11-102091244-T-G YAP1 c.871-3109T>G - IntronicSNV - 4/6
10-114138028-A-G ACSL5 c.139+1822A>G - IntronicSNV - 1/20
10-114138028-A-T ACSL5 c.139+1822A>T - IntronicSNV - 1/20
10-114138028-A-C ACSL5 c.139+1822A>C - IntronicSNV - 1/20
16-67911517-T-C EDC4 c.747T>C p.Cys249Cys Synonymous 6/29 -
20-34432670-A-G PHF20 c.255+2004A>G - IntronicSNV - 3/17
15-50873344-T-A TRPM7 c.4558-239A>T - IntronicSNV - 29/38
20-34432670-A-T PHF20 c.255+2004A>T - IntronicSNV - 3/17
17-80115247-T-G CCDC57 c.2241+377A>C - IntronicSNV - 14/16
12-90081188-T-G ATP2B1 c.-222+21808A>C - intron_variant - 1/20
12-90081188-T-A ATP2B1 c.-222+21808A>T - intron_variant - 1/20
12-90081188-T-C ATP2B1 c.-222+21808A>G - intron_variant - 1/20
2-11734335-A-C GREB1 c.1697-1042A>C - IntronicSNV - 11/32
7-72971231-C-T BCL7B c.92+586G>A - IntronicSNV - 1/5
18-44675462-G-C HDHD2 c.-11+1287C>G - intron_variant - 1/6
1-61619056-C-T NFIA c.559+64704C>T - IntronicSNV - 2/9
1-61760664-C-T NFIA c.625+17407C>T - IntronicSNV - 3/9
17-27869968-G-A TAOK1 c.2934G>A p.Thr978Thr Synonymous 20/20 -
16-88535670-C-T ZFPM1 c.40+15584C>T - IntronicSNV - 1/9
2-39963667-A-G THUMPD2 c.*208T>C - 3-UTRSNV 10/10 -
11-65365318-T-C MAP3K11 c.*444A>G - 3-UTRSNV 10/10 -
8-19819328-T-C LPL c.1323-298T>C - IntronicSNV - 8/9
6-31106268-A-G PSORS1C1 c.43+32A>G - IntronicSNV - 4/5
12-6435571-A-G PLEKHG6 c.1525-23A>G - IntronicSNV - 13/15
16-71790221-A-G AP1G1 c.1098-159T>C - IntronicSNV - 12/23
1-19765518-T-G CAPZB c.4-19274A>C - IntronicSNV - 1/9
12-122494809-T-C BCL7A c.561+1977T>C - IntronicSNV - 5/5
17-64210014-A-C APOH c.982+557T>G - IntronicSNV - 7/7
8-15532585-T-C TUSC3 c.798+1240T>C - IntronicSNV - 6/10
19-18533642-T-C SSBP4 c.59+3125T>C - IntronicSNV - 1/17
17-80110957-C-T CCDC57 c.2241+4667G>A - IntronicSNV - 14/16
20-47772264-A-G STAU1 c.206-1656T>C - IntronicSNV - 3/13
1-29503214-G-C SRSF4 c.107+4944C>G - IntronicSNV - 1/5
16-4013467-C-T ADCY9 c.*2309G>A - 3-UTRSNV 11/11 -
17-7478962-A-G EIF4A1 c.345+386A>G - IntronicSNV - 4/10
4-146040377-C-T ABCE1 c.923-707C>T - IntronicSNV - 10/17
19-19468710-C-G MAU2 c.*2119C>G - 3-UTRSNV 19/19 -
12-120189879-A-G CIT c.2754T>C p.Ala918Ala Synonymous 22/47 -
19-19468710-C-T MAU2 c.*2119C>T - 3-UTRSNV 19/19 -
1-114969641-C-T TRIM33 c.1420+158G>A - IntronicSNV - 8/19
2-11734335-A-T GREB1 c.1697-1042A>T - IntronicSNV - 11/32
12-76449900-T-G NAP1L1 c.471A>C p.Lys157Asn Missense 7/16 -
5-1344458-G-A CLPTM1L c.263+8C>T - IntronicSNV - 2/16
6-41533579-C-A FOXP4 c.81C>A p.Ala27Ala Synonymous 2/17 -
21-47639992-G-A LSS c.551-506C>T - IntronicSNV - 5/22
21-47639992-G-C LSS c.551-506C>G - IntronicSNV - 5/22
12-120903179-T-C SRSF9 c.349+251A>G - IntronicSNV - 2/3
11-17409572-T-C KCNJ11 c.67A>G p.Lys23Glu Missense 1/1 -
19-6718387-G-T C3 c.304C>A p.Arg102Ser Missense 3/41 -
19-6718387-G-C C3 c.304C>G p.Arg102Gly Missense 3/41 -
21-44475796-T-C CBS c.1552+1117A>G - IntronicSNV - 16/16
7-23494500-C-T IGF2BP3 c.236+13601G>A - IntronicSNV - 2/14
9-107589580-A-T ABCA1 c.2116-130T>A - IntronicSNV - 15/49
5-95274702-A-G ELL2 c.195+4004T>C - IntronicSNV - 2/11
16-12009304-C-A GSPT1 c.274G>T p.Gly92Cys Missense 1/15 -
1-61609529-A-C NFIA c.559+55177A>C - IntronicSNV - 2/9
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
15-89842590-A-G FANCI c.2457-441A>G - IntronicSNV - 23/36
15-89842590-A-C FANCI c.2457-441A>C - IntronicSNV - 23/36
19-6713262-G-A C3 c.941C>T p.Pro314Leu Missense 9/41 -
19-6713262-G-C C3 c.941C>G p.Pro314Arg Missense 9/41 -
2-234068476-C-T INPP5D c.1056+1411C>T - intron_variant - 11/27
11-86853997-A-G TMEM135 c.397-14386A>G - IntronicSNV - 4/14
2-27430781-A-G SLC5A6 c.1-263T>C - IntronicSNV - 2/16
20-33975181-C-A UQCC1 c.130-3245G>T - IntronicSNV - 2/9
8-11701096-A-C CTSB c.*1538T>G - 3-UTRSNV 12/12 -
4-80946475-T-A ANTXR2 c.866+6302A>T - IntronicSNV - 10/16
11-63963947-T-A STIP1 c.672+662T>A - IntronicSNV - 5/13
6-30313268-G-C TRIM39-RPP21 c.1206G>C p.Arg402Arg Synonymous 8/10 -
6-30313268-G-A TRIM39-RPP21 c.1206G>A p.Arg402Arg Synonymous 8/10 -
4-17682834-T-C FAM184B c.1596+7213A>G - IntronicSNV - 7/17
5-96370879-G-A LNPEP c.*6642G>A - IntergenicSNV 18/18 -
1-41530871-T-C SCMH1 c.1075+5396A>G - IntronicSNV - 10/15
2-152267072-T-A RIF1 c.104+31T>A - IntronicSNV - 2/34
10-46021631-T-C MARCH8 c.102+6927A>G - IntronicSNV - 2/6
12-57023284-C-G BAZ2A c.4+6682G>C - IntronicSNV - 1/28
17-20924077-C-T USP22 c.418+349G>A - IntronicSNV - 3/12
21-40715167-A-C HMGN1 c.256-82T>G - IntronicSNV - 5/5
2-219151218-A-C TMBIM1 c.1-4354T>G - IntronicSNV - 1/11
7-99217424-G-A ZSCAN25 c.195G>A p.Glu65Glu Synonymous 4/8 -
1-156285764-G-C CCT3 c.974+1193C>G - IntronicSNV - 10/13
1-156285764-G-A CCT3 c.974+1193C>T - IntronicSNV - 10/13
3-49731861-G-T RNF123 c.168-2715G>T - IntronicSNV - 3/38
11-64525216-C-T PYGM c.660+35G>A - IntronicSNV - 5/19
6-31590898-C-T PRRC2A c.112+220C>T - IntronicSNV - 2/30
2-55843413-C-T PPP4R3B c.142-771G>A - intron_variant - 1/14
17-70121339-A-G SOX9 c.*811A>G - 3-UTRSNV 3/3 -
21-35016137-G-A ITSN1 c.-33+1118G>A - intron_variant - 1/39
5-167913510-G-C RARS c.7G>C p.Val3Leu Missense 1/15 -
5-167913510-G-T RARS c.7G>T p.Val3Leu Missense 1/15 -
5-167913510-G-A RARS c.7G>A p.Val3Ile Missense 1/15 -
15-91437388-A-C FES c.2326+100A>C - IntronicSNV - 18/18
15-91437388-A-T FES c.2326+100A>T - IntronicSNV - 18/18
4-1240962-C-G CTBP1 c.40+1742G>C - IntronicSNV - 1/8
16-28617993-C-A SULT1A1 c.594+89G>T - IntronicSNV - 6/7
1-183086757-A-C LAMC1 c.1776A>C p.Ala592Ala Synonymous 10/28 -
6-32136547-T-G AGPAT1 c.*506A>C - 3-UTRSNV 7/7 -
2-61740646-C-T XPO1 c.301+9100G>A - IntronicSNV - 4/24
1-8425900-T-C RERE c.1419A>G p.Thr473Thr Synonymous 13/23 -
1-8425900-T-A RERE c.1419A>T p.Thr473Thr Synonymous 13/23 -
5-10372618-T-C MARCH6 c.20-5292T>C - IntronicSNV - 1/25
6-31238135-G-A HLA-C c.747C>T p.Thr249Thr Synonymous 4/8 -
6-167434686-T-C FGFR1OP c.580-1211T>C - IntronicSNV - 7/12
4-703930-G-C PCGF3 c.-190+4171G>C - intron_variant - 1/10
4-703930-G-A PCGF3 c.-190+4171G>A - intron_variant - 1/10
3-122845671-C-G PDIA5 c.773+2481C>G - IntronicSNV - 10/16
19-18547305-T-G ISYNA1 c.610-16A>C - IntronicSNV - 5/10
6-27833174-A-G HIST1H2AL c.42A>G p.Lys14Lys Synonymous 1/1 -
16-633354-G-C PIGQ c.*319G>C - 3-UTRSNV 11/11 -
19-10406635-T-A ICAM5 c.2497+347T>A - IntronicSNV - 10/10
19-18547305-T-A ISYNA1 c.610-16A>T - IntronicSNV - 5/10
5-137707315-G-C KDM3B c.193-1048G>C - IntronicSNV - 1/23
8-145741130-C-T RECQL4 c.1258+18G>A - IntronicSNV - 6/21
12-103257876-A-G PAH c.509+2498T>C - IntronicSNV - 5/12
5-137707315-G-A KDM3B c.193-1048G>A - IntronicSNV - 1/23
16-28619132-T-C SULT1A1 c.372+480A>G - IntronicSNV - 4/7
6-17668546-A-G NUP153 c.1068+660T>C - IntronicSNV - 8/22
6-31113083-G-A CCHCR1 c.1473-4C>T - IntronicSNV - 12/17
10-114762064-G-T TCF7L2 c.382-37720G>T - IntronicSNV - 3/13
16-1838836-C-G NUBP2 c.*121C>G - 3-UTRSNV 7/7 -
10-104775908-G-A CNNM2 c.1622-33556G>A - IntronicSNV - 1/7
7-107580839-A-G LAMB1 c.3392-36T>C - IntronicSNV - 24/33
1-150940625-T-A CERS2 c.344A>T p.Glu115Val Missense 4/11 -
1-150940625-T-G CERS2 c.344A>C p.Glu115Ala Missense 4/11 -
1-231172281-C-T FAM89A c.291+3386G>A - IntronicSNV - 1/1
16-74695409-G-C RFWD3 c.1-62C>G - IntronicSNV 1/13 -
9-102732237-T-C STX17 c.*1282T>C - 3-UTRSNV 8/8 -
9-102732237-T-A STX17 c.*1282T>A - 3-UTRSNV 8/8 -
20-25298087-A-G ABHD12 c.543-373T>C - IntronicSNV - 4/12
11-17191019-A-G PIK3C2A c.270T>C p.Ile90Ile Synonymous 2/33 -
3-30710140-G-A TGFBR2 c.530-2990G>A - IntronicSNV - 4/7
17-53056471-G-A STXBP4 c.-156-6504G>A - intron_variant - 1/17
18-72176083-T-C CNDP2 c.376T>C p.Tyr126His Missense 5/12 -
19-18538742-A-C SSBP4 c.229A>C p.Arg77Arg Synonymous 4/18 -
4-56298194-G-A CLOCK c.*3388C>T - 3-UTRSNV 23/23 -
6-31601843-T-C PRRC2A c.4719+77T>C - IntronicSNV - 18/30
1-109897103-A-G SORT1 c.594T>C p.Phe198Phe Synonymous 5/20 -
1-8416957-G-C RERE c.4340-651C>G - IntronicSNV - 20/22
7-138230820-C-A TRIM24 c.1144-4988C>A - IntronicSNV - 7/18
19-41310571-A-G EGLN2 c.844-1889A>G - IntronicSNV - 2/5
5-115516135-G-A COMMD10 c.510+46260G>A - IntronicSNV - 5/6
2-166895066-A-T SCN1A c.2557-424T>A - IntronicSNV - 17/28
8-30928146-T-G WRN c.724+2303T>G - IntronicSNV - 7/34
8-30928146-T-C WRN c.724+2303T>C - IntronicSNV - 7/34
6-31632134-C-A GPANK1 c.122G>T p.Arg41Leu Missense 2/3 -
6-31632134-C-T GPANK1 c.122G>A p.Arg41Gln Missense 2/3 -
1-145441620-T-A TXNIP c.*402T>A - 3-UTRSNV 8/8 -
17-38146542-C-T PSMD3 c.981+92C>T - IntronicSNV - 6/11
17-38146542-C-G PSMD3 c.981+92C>G - IntronicSNV - 6/11
4-39116911-T-A KLHL5 c.2034T>A p.Thr678Thr Synonymous 11/12 -
21-40555351-G-A PSMG1 c.1-40C>T - 5-UTRSNV 1/7 -
21-40555351-G-C PSMG1 c.1-40C>G - 5-UTRSNV 1/7 -
20-61472808-G-C TCFL5 c.*519C>G - 3-UTRSNV 6/6 -
8-15536078-T-G TUSC3 c.798+4733T>G - IntronicSNV - 6/10
1-29503214-G-A SRSF4 c.107+4944C>T - IntronicSNV - 1/5
6-10981053-G-C ELOVL2 c.*2961C>G - 3-UTRSNV 8/8 -
4-170642246-A-G CLCN3 c.*1098A>G - 3-UTRSNV 12/12 -
11-47378396-C-T SPI1 c.494-1299G>A - IntronicSNV - 4/4
12-122615515-C-G MLXIP c.1000+35C>G - intron_variant - 7/16
16-30977799-G-A SETD1A c.2505+92G>A - IntronicSNV - 8/18
9-101908365-T-G TGFBR1 c.900-402T>G - IntronicSNV - 5/7
4-84373622-A-G HELQ c.1012+762T>C - IntronicSNV - 2/17
7-107564366-T-C LAMB1 c.*30A>G - 3-UTRSNV 34/34 -
6-31378965-G-A MICA c.442G>A p.Glu148Lys Missense 3/6 -
17-80086395-T-C CCDC57 c.2320A>G p.Arg774Gly Missense 15/17 -
7-107564366-T-G LAMB1 c.*30A>C - 3-UTRSNV 34/34 -
5-37046626-A-T NIPBL c.6589+325A>T - IntronicSNV - 38/45
12-107350167-A-G TMEM263 c.-75+324A>G - intron_variant - 1/3
1-214837110-C-G CENPF c.9318C>G p.Asn3106Lys Missense 20/20 -
1-214837110-C-A CENPF c.9318C>A p.Asn3106Lys Missense 20/20 -
1-214837110-C-T CENPF c.9318C>T p.Asn3106Asn Synonymous 20/20 -
19-8456234-T-G RAB11B c.40+894T>G - IntronicSNV - 1/4
1-95662658-G-T TMEM56-RWDD3 c.473+23213G>T - IntronicSNV - 6/7
15-58318603-G-A ALDH1A2 c.55-12124C>T - IntronicSNV - 2/13
5-176378574-G-T UIMC1 c.1344C>A p.Thr448Thr Synonymous 9/15 -
15-65998702-T-C DENND4A c.1954-140A>G - IntronicSNV - 14/31
5-10437834-C-T MARCH6 c.*4038C>T - 3-UTRSNV 26/26 -
10-114762237-G-A TCF7L2 c.382-37547G>A - IntronicSNV - 3/13
6-33662295-G-A ITPR3 c.7786-406G>A - IntronicSNV - 56/57
11-3029089-G-A CARS c.1820-900C>T - IntronicSNV - 17/21
2-219146868-T-C TMBIM1 c.1-4A>G - 5-UTRSNV 2/12 -
11-69457293-C-T CCND1 c.199-506C>T - IntronicSNV - 1/4
15-42032383-C-G MGA c.4567C>G p.Pro1523Ala Missense 14/24 -
11-2968809-A-G NAP1L4 c.*1680T>C - IntronicSNV - 15/15
6-31731881-C-G SAPCD1 c.296C>G p.Pro99Arg Missense 3/5 -
6-29912451-C-G HLA-A c.1012+58C>G - IntronicSNV - 5/7
5-112229903-G-C REEP5 c.352-7023C>G - IntronicSNV - 3/4
11-5472735-T-G OR51B5 c.-360+54064A>C - intron_variant - 1/4
2-71559107-T-G ZNF638 c.-203+102T>G - intron_variant - 1/27
7-128884057-A-T AHCYL2 c.363+18777A>T - IntronicSNV - 1/16
11-77925759-A-C USP35 c.*900A>C - IntergenicSNV 11/11 -
1-156713558-G-A HDGF c.602C>T p.Pro201Leu Missense 5/6 -
12-109994870-A-T MMAB c.716T>A p.Met239Lys Missense 9/9 -
1-156713558-G-C HDGF c.602C>G p.Pro201Arg Missense 5/6 -
12-122625992-A-G MLXIP c.2639-246A>G - intron_variant - 16/16
6-31597875-A-C PRRC2A c.2254+253A>C - IntronicSNV - 14/30
6-47453378-G-C CD2AP c.4+7394G>C - IntronicSNV - 1/17
16-1838836-C-A NUBP2 c.*121C>A - 3-UTRSNV 7/7 -
6-31597875-A-G PRRC2A c.2254+253A>G - IntronicSNV - 14/30
4-1740675-G-A TACC3 c.1942-754G>A - IntronicSNV - 10/15
22-22131125-T-G MAPK1 c.857-3854A>C - IntronicSNV - 6/8
21-40663181-G-A BRWD1 c.831+2556C>T - IntronicSNV - 8/40
21-40663181-G-C BRWD1 c.831+2556C>G - IntronicSNV - 8/40
12-62785524-T-C USP15 c.2147-72T>C - IntronicSNV - 15/20
17-7468509-G-A SENP3 c.1067+122G>A - IntronicSNV - 4/11
6-33689520-C-T IP6K3 c.*977G>A - 3-UTRSNV 6/6 -
11-108106782-C-T ATM c.496+221C>T - IntronicSNV - 5/62
11-108106782-C-A ATM c.496+221C>A - IntronicSNV - 5/62
2-112778389-C-T MERTK c.2190-610C>T - IntronicSNV - 16/18
5-131665378-A-G SLC22A4 c.952-2071A>G - IntronicSNV - 5/9
11-5472768-C-T OR51B5 c.-360+54031G>A - intron_variant - 1/4
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
4-17939302-T-C LCORL c.430+24224A>G - IntronicSNV - 4/6
12-76449900-T-C NAP1L1 c.471A>G p.Lys157Lys Synonymous 7/16 -
12-6440009-T-C TNFRSF1A c.625+10A>G - IntronicSNV - 6/9
12-107367224-T-C TMEM263 c.*2055T>C - 3-UTRSNV 4/4 -
11-95991923-C-G MAML2 c.513+82624G>C - IntronicSNV - 1/4
11-95991923-C-T MAML2 c.513+82624G>A - IntronicSNV - 1/4
12-107367224-T-A TMEM263 c.*2055T>A - 3-UTRSNV 4/4 -
7-128993756-T-G AHCYL2 c.364-25726T>G - IntronicSNV - 1/16
1-2187085-T-A SKI c.969+25911T>A - IntronicSNV - 1/6
1-169498975-T-C F5 c.5290A>G p.Met1764Val Missense 16/25 -
2-112770770-A-G MERTK c.2079+3127A>G - IntronicSNV - 15/18
1-2187085-T-C SKI c.969+25911T>C - IntronicSNV - 1/6
3-49701983-G-A BSN c.11736G>A p.Thr3912Thr Synonymous 9/12 -
6-31378387-T-C MICA c.138T>C p.Leu46Leu Synonymous 2/6 -
5-131661156-T-A SLC22A4 c.825-1814T>A - IntronicSNV - 4/9
2-242260340-G-A SEPT2 c.1-3308G>A - IntronicSNV - 1/12
6-31378387-T-A MICA c.138T>A p.Leu46Leu Synonymous 2/6 -
1-51221165-G-A FAF1 c.368-10718C>T - IntronicSNV - 4/18
17-56736598-G-C TEX14 c.1-7236C>G - IntronicSNV - 1/32
12-94127931-C-T CRADD c.298+55083C>T - IntronicSNV - 2/2
2-152266731-T-A RIF1 c.-11+184T>A - intron_variant - 1/34
2-152266731-T-G RIF1 c.-11+184T>G - intron_variant - 1/34
7-6449272-A-G DAGLB c.*196T>C - 3-UTRSNV 15/15 -
10-114746580-C-A TCF7L2 c.381+35214C>A - IntronicSNV - 3/13
10-114746580-C-G TCF7L2 c.381+35214C>G - IntronicSNV - 3/13
2-135713703-G-A CCNT2 c.*1485G>A - 3-UTRSNV 9/9 -
2-215653887-T-C BARD1 c.364+3134A>G - IntronicSNV - 3/10
2-215653887-T-A BARD1 c.364+3134A>T - IntronicSNV - 3/10
8-116597409-T-A TRPS1 c.2700+1819A>T - IntronicSNV - 5/6
2-135713703-G-C CCNT2 c.*1485G>C - 3-UTRSNV 9/9 -
1-110040310-A-G CYB561D1 c.*1429A>G - 3-UTRSNV 3/3 -
8-52757093-G-A PCMTD1 c.410+1128C>T - IntronicSNV - 3/5
2-219095554-G-A ARPC2 c.222+1981G>A - IntronicSNV - 3/9
6-34827085-A-G UHRF1BP1 c.2952A>G p.Gln984Gln Synonymous 14/21 -
12-122619261-G-T MLXIP c.1733-510G>T - intron_variant - 9/16
4-74311433-C-A AFP c.843+594C>A - IntronicSNV - 7/14
3-52815905-T-C ITIH1 c.688-51T>C - IntronicSNV - 6/21
15-75321139-T-A PPCDC c.135+345T>A - IntronicSNV - 2/5
15-75321139-T-C PPCDC c.135+345T>C - IntronicSNV - 2/5
10-81110417-G-A PPIF c.316-826G>A - IntronicSNV - 3/5
15-67442596-C-T SMAD3 c.207-14637C>T - IntronicSNV - 1/8
5-137772296-G-C KDM3B c.*907G>C - 3-UTRSNV 24/24 -
1-169525808-G-A F5 c.952+76C>T - IntronicSNV - 6/24
1-169540080-C-T F5 c.373+1379G>A - IntronicSNV - 3/24
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
9-37983657-C-G SHB c.839-8823G>C - IntronicSNV - 2/5
9-37983657-C-T SHB c.839-8823G>A - IntronicSNV - 2/5
17-80151805-T-C CCDC57 c.776+53A>G - IntronicSNV - 5/16
11-27516785-C-T LIN7C c.*3411G>A - 3-UTRSNV 5/5 -
2-219613249-G-A TTLL4 c.2501+299G>A - IntronicSNV - 12/19
5-1337070-T-C CLPTM1L c.678+949A>G - IntronicSNV - 5/16
15-89860786-A-C POLG c.3483-19T>G - IntronicSNV - 21/22
21-40652142-G-A BRWD1 c.864C>T p.Tyr288Tyr Synonymous 9/41 -
17-53365172-A-G HLF c.451+19725A>G - IntronicSNV - 2/3
1-90102619-G-A LRRC8C c.-5+3738G>A - intron_variant - 1/2
5-95222277-C-T ELL2 c.*2298G>A - 3-UTRSNV 12/12 -
7-2801803-C-T GNA12 c.526-28668G>A - IntronicSNV - 2/3
8-144671956-G-T EEF1D c.296C>A p.Ala99Glu Missense 3/10 -
8-144671956-G-A EEF1D c.296C>T p.Ala99Val Missense 3/10 -
5-110428781-T-C WDR36 c.330+465T>C - IntronicSNV - 1/22
7-89977760-A-G GTPBP10 c.33+1672A>G - IntronicSNV - 1/9
11-17409572-T-A KCNJ11 c.67A>T p.Lys23* Nonsense 1/1 -
1-183112566-T-C LAMC1 c.*641T>C - 3-UTRSNV 28/28 -
1-8440132-G-A RERE c.1285-14098C>T - IntronicSNV - 12/22
16-630665-G-A PIGQ c.1417-193G>A - IntronicSNV - 8/10
1-182993025-C-T LAMC1 c.174C>T p.Ala58Ala Synonymous 1/28 -
16-67764626-G-T RANBP10 c.890-677C>A - IntronicSNV - 7/13
21-40680736-A-G BRWD1 c.198+4031T>C - IntronicSNV - 4/40
13-25010567-C-T PARP4 c.3667-955G>A - IntronicSNV - 30/33
12-109994870-A-G MMAB c.716T>C p.Met239Thr Missense 9/9 -
5-179156782-G-T CANX c.*1137G>T - 3-UTRSNV 15/15 -
3-99583484-C-T FILIP1L c.-116+11432G>A - intron_variant - 1/1
19-13039284-A-G FARSA c.726-13T>C - IntronicSNV - 6/12
7-73026378-C-T MLXIPL c.400+4023G>A - IntronicSNV - 2/16
7-73026378-C-A MLXIPL c.400+4023G>T - IntronicSNV - 2/16
2-201171207-G-A SPATS2L c.-73+324G>A - intron_variant - 1/12
10-124180766-C-T PLEKHA1 c.682-2949C>T - IntronicSNV - 8/11
6-31917540-T-C CFB c.1408+206T>C - IntronicSNV - 10/17
2-201171207-G-C SPATS2L c.-73+324G>C - intron_variant - 1/12
2-69741801-C-G AAK1 c.1578G>C p.Gln526His Missense 13/22 -
16-675680-T-C RAB40C c.342+171T>C - IntronicSNV - 4/5
2-69741801-C-T AAK1 c.1578G>A p.Gln526Gln Synonymous 13/22 -
17-65898809-G-A BPTF c.2922-1096G>A - IntronicSNV - 9/29
6-41528214-G-A FOXP4 c.1-5285G>A - IntronicSNV - 1/16
5-179135815-C-A CANX c.447-164C>A - IntronicSNV - 5/14
12-107367225-T-C TMEM263 c.*2056T>C - 3-UTRSNV 4/4 -
1-214814571-C-T CENPF c.2890C>T p.Leu964Leu Synonymous 12/20 -
12-46347124-G-A SCAF11 c.220-1614C>T - IntronicSNV - 3/14
1-214814571-C-G CENPF c.2890C>G p.Leu964Val Missense 12/20 -
1-89236029-T-A PKN2 c.505-6T>A - IntronicSNV - 3/21
3-65529435-G-C MAGI1 c.431-50129C>G - IntronicSNV - 2/22
3-65529435-G-T MAGI1 c.431-50129C>A - IntronicSNV - 2/22
15-62172907-T-A VPS13C c.9774A>T p.Gln3258His Missense 71/83 -
15-62172907-T-C VPS13C c.9774A>G p.Gln3258Gln Synonymous 71/83 -
1-158585355-T-C SPTA1 c.6601-162A>G - IntronicSNV - 47/51
12-120162199-G-A CIT c.3466-2945C>T - IntronicSNV - 27/46
2-48103221-A-G FBXO11 c.-21+12544T>C - intron_variant - 1/22
3-30687969-T-C TGFBR2 c.338+1562T>C - IntronicSNV - 3/7
3-30687969-T-A TGFBR2 c.338+1562T>A - IntronicSNV - 3/7
1-19718824-G-A CAPZB c.94-6704C>T - IntronicSNV - 2/9
6-31748820-G-A VARS c.2625C>T p.Asp875Asp Synonymous 22/30 -
6-31748820-G-C VARS c.2625C>G p.Asp875Glu Missense 22/30 -
3-99543764-A-G CMSS1 c.64+6877A>G - IntronicSNV - 1/9
1-204516025-A-G MDM4 c.903+20A>G - IntronicSNV - 10/10
1-155947875-A-T ARHGEF2 c.-36T>A - 5_prime_UTR_variant 1/22 -
10-81114813-C-A PPIF c.*1215C>A - 3-UTRSNV 6/6 -
21-40627325-C-T BRWD1 c.2255+246G>A - IntronicSNV - 19/40
2-112665201-C-T MERTK c.61+8828C>T - IntronicSNV - 1/18
1-237048676-G-T MTR c.2775+157G>T - IntronicSNV - 26/32
6-11040423-A-G ELOVL2 c.3+4038T>C - IntronicSNV - 1/7
8-8890098-C-A ERI1 c.*2554C>A - 3-UTRSNV 7/7 -
10-73772661-T-A CHST3 c.*4432T>A - 3-UTRSNV 3/3 -
8-8890098-C-T ERI1 c.*2554C>T - 3-UTRSNV 7/7 -
12-133345809-C-T GOLGA3 c.*3882G>A - 3-UTRSNV 24/24 -
12-122626842-G-A MLXIP c.*483G>A - 3_prime_UTR_variant 17/17 -
2-43711925-A-C THADA c.3836+448T>G - IntronicSNV - 26/37
2-27424636-G-A SLC5A6 c.1442C>T p.Ser481Phe Missense 14/17 -
2-43711925-A-G THADA c.3836+448T>C - IntronicSNV - 26/37
12-56825311-C-T TIMELESS c.765G>A p.Val255Val Synonymous 8/29 -
12-76476956-A-G NAP1L1 c.-21+1391T>C - intron_variant - 1/15
12-56825311-C-G TIMELESS c.765G>C p.Val255Val Synonymous 8/29 -
21-40664321-T-C BRWD1 c.831+1416A>G - IntronicSNV - 8/40
8-28756738-G-A HMBOX1 c.-58+7431G>A - intron_variant - 2/10
21-34943200-A-C SON c.6885+1807A>C - IntronicSNV - 8/11
6-34824636-A-G UHRF1BP1 c.1361A>G p.Gln454Arg Missense 11/21 -
1-158582552-G-A SPTA1 c.7134+55C>T - IntronicSNV - 51/51
17-80136418-C-T CCDC57 c.1438G>A p.Val480Met Missense 10/17 -
21-40560262-T-C BRWD1 c.*7923A>G - 3-UTRSNV 41/41 -
15-58296450-T-A ALDH1A2 c.430+6397A>T - IntronicSNV - 5/13
1-237048500-A-G MTR c.2756A>G p.Asp919Gly Missense 26/33 -
3-136235908-T-C STAG1 c.676+4147A>G - IntronicSNV - 7/33
17-74443683-C-T UBE2O c.417+5124G>A - IntronicSNV - 1/17
1-23710475-C-T TCEA3 c.1038+364G>A - IntronicSNV - 10/10
20-62318220-T-C RTEL1 c.1421-771T>C - IntronicSNV - 16/34
11-108283161-C-A C11orf65 c.175-5285G>T - IntronicSNV - 3/8
17-47131901-A-G IGF2BP1 c.*5095A>G - 3-UTRSNV 15/15 -
12-120933946-T-G DYNLL1 c.-80T>G - 5_prime_UTR_variant 1/3 -
5-96111371-G-A ERAP1 c.2818+737C>T - IntronicSNV - 19/19
6-31711124-C-T MSH5 c.415+177C>T - IntronicSNV - 5/24
1-85787118-G-C DDAH1 c.*17C>G - 3-UTRSNV 7/7 -
2-43721508-C-T THADA c.3744+4464G>A - IntronicSNV - 25/37
4-74310844-A-T AFP c.843+5A>T - IntronicSNV - 7/14
4-74310844-A-G AFP c.843+5A>G - IntronicSNV - 7/14
1-61616247-G-A NFIA c.559+61895G>A - IntronicSNV - 2/9
15-41563950-A-G CHP1 c.411+1134A>G - IntronicSNV - 5/6
1-61616247-G-C NFIA c.559+61895G>C - IntronicSNV - 2/9
15-42121538-C-G JMJD7 c.64+1152C>G - IntronicSNV - 1/7
1-90025519-C-A LRRC8B c.-241+924C>A - intron_variant - 4/8
2-63195179-T-A EHBP1 c.2566-11144T>A - IntronicSNV - 15/24
2-63195179-T-C EHBP1 c.2566-11144T>C - IntronicSNV - 15/24
3-30708115-G-C TGFBR2 c.530-5015G>C - IntronicSNV - 4/7
17-20919703-C-A USP22 c.691-491G>T - IntronicSNV - 5/12
3-30708115-G-T TGFBR2 c.530-5015G>T - IntronicSNV - 4/7
3-30708115-G-A TGFBR2 c.530-5015G>A - IntronicSNV - 4/7
20-33971914-C-T UQCC1 c.152G>A p.Arg51Gln Missense 3/10 -
1-169512093-A-G F5 c.2235T>C p.Asn745Asn Synonymous 13/25 -
4-39118510-G-A KLHL5 c.2074+1560G>A - intron_variant - 11/11
3-122839876-G-A PDIA5 c.610-3037G>A - IntronicSNV - 8/16
3-122839876-G-T PDIA5 c.610-3037G>T - IntronicSNV - 8/16
11-118915944-A-G HYOU1 c.*361T>C - 3-UTRSNV 26/26 -
2-3472138-T-C TRAPPC12 c.1776+2672T>C - IntronicSNV - 9/11
1-109926828-T-A SORT1 c.306+13381A>T - IntronicSNV - 1/19
16-661335-T-C RAB40C c.143-5873T>C - IntronicSNV - 1/5
1-109926828-T-C SORT1 c.306+13381A>G - IntronicSNV - 1/19
7-1893311-C-G MAD1L1 c.1999-37447G>C - IntronicSNV - 18/18
1-54683925-G-A MRPL37 c.*3G>A - 3-UTRSNV 7/7 -
7-23482685-G-T IGF2BP3 c.237-24242C>A - IntronicSNV - 2/14
17-47080431-G-T IGF2BP1 c.236+3900G>T - IntronicSNV - 2/14
4-17944840-G-A LCORL c.430+18686C>T - IntronicSNV - 4/6
17-20904669-A-G USP22 c.*1675T>C - 3-UTRSNV 13/13 -
1-162306415-T-A NOS1AP c.453+3500T>A - IntronicSNV - 5/9
1-162306415-T-G NOS1AP c.453+3500T>G - IntronicSNV - 5/9
19-1207238-G-T STK11 c.290+36G>T - IntronicSNV - 1/9
2-61713526-C-A XPO1 c.2314-429G>T - IntronicSNV - 19/24
2-61713526-C-G XPO1 c.2314-429G>C - IntronicSNV - 19/24
2-63179076-G-A EHBP1 c.2421+2779G>A - IntronicSNV - 14/24
2-152267072-T-G RIF1 c.104+31T>G - IntronicSNV - 2/34
19-10794630-G-T ILF3 c.2055G>T p.Ser685Ser Synonymous 17/18 -
19-10794630-G-C ILF3 c.2055G>C p.Ser685Ser Synonymous 17/18 -
19-10794630-G-A ILF3 c.2055G>A p.Ser685Ser Synonymous 17/18 -
1-93298756-T-C RPL5 c.4-190T>C - IntronicSNV - 1/7
15-75136257-A-C SCAMP2 c.*1167T>G - IntergenicSNV 9/9 -
10-102265847-A-T SEC31B c.994T>A p.Ser332Thr Missense 9/26 -
17-20935471-G-A USP22 c.172-3484C>T - IntronicSNV - 1/12
10-102265847-A-C SEC31B c.994T>G p.Ser332Ala Missense 9/26 -
15-58276747-C-A ALDH1A2 c.735+8156G>T - IntronicSNV - 8/13
8-30498859-T-A SMIM18 c.-111+2703T>A - intron_variant - 1/2
5-10372618-T-A MARCH6 c.20-5292T>A - IntronicSNV - 1/25
18-72174023-A-G CNDP2 c.367+777A>G - IntronicSNV - 4/11
7-75959188-G-A YWHAG c.450C>T p.Ser150Ser Synonymous 2/2 -
8-30498859-T-C SMIM18 c.-111+2703T>C - intron_variant - 1/2
19-19616742-G-A GATAD2A c.*459G>A - 3-UTRSNV 12/12 -
7-2278226-C-T MRM2 c.298+827G>A - IntronicSNV - 2/2
19-19616742-G-T GATAD2A c.*459G>T - 3-UTRSNV 12/12 -
2-27851918-G-A GPN1 c.-8G>A - 5_prime_UTR_variant 1/14 -
15-79237247-C-G CTSH c.77G>C p.Cys26Ser Missense 1/12 -
16-69729446-A-G NFAT5 c.*172A>G - IntronicSNV 16/16 -
1-54673097-C-T MRPL37 c.646+2014C>T - IntronicSNV - 3/6
17-64215571-G-A APOH c.604+1101C>T - IntronicSNV - 5/7
5-96118866-C-G ERAP1 c.2174G>C p.Arg725Pro Missense 15/20 -
5-96118866-C-T ERAP1 c.2174G>A p.Arg725Gln Missense 15/20 -
12-122615515-C-T MLXIP c.1000+35C>T - intron_variant - 7/16
3-65486388-A-G MAGI1 c.431-7082T>C - IntronicSNV - 2/22
15-56532219-G-A RFX7 c.161+3104C>T - IntronicSNV - 2/9
1-236179869-A-G NID1 c.2254+579T>C - IntronicSNV - 10/19
1-236179869-A-T NID1 c.2254+579T>A - IntronicSNV - 10/19
8-121610438-G-A SNTB1 c.997-22973C>T - IntronicSNV - 3/6
4-1240299-T-A CTBP1 c.40+2405A>T - IntronicSNV - 1/8
4-17936634-T-C LCORL c.431-25666A>G - IntronicSNV - 4/6
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
12-123665113-G-C MPHOSPH9 c.2290-576C>G - IntronicSNV - 14/23
6-34827085-A-T UHRF1BP1 c.2952A>T p.Gln984His Missense 14/21 -
12-103248924-C-G PAH c.696G>C p.Gln232His Missense 6/13 -
1-90112431-G-T LRRC8C c.-5+13550G>T - intron_variant - 1/2
5-56111751-G-C MAP3K1 c.351G>C p.Ala117Ala Synonymous 1/20 -
3-56654834-C-G CCDC66 c.2659-726C>G - IntronicSNV - 17/17
17-57919031-A-T VMP1 c.*1759A>T - IntergenicSNV 12/12 -
1-90112431-G-A LRRC8C c.-5+13550G>A - intron_variant - 1/2
9-111866749-C-A TMEM245 c.799+2039G>T - IntronicSNV - 3/17
9-111866749-C-T TMEM245 c.799+2039G>A - IntronicSNV - 3/17
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
17-53239240-T-A STXBP4 c.*1968T>A - 3-UTRSNV 18/18 -
1-29494019-C-T SRSF4 c.108-6990G>A - IntronicSNV - 1/5
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
21-40560678-T-G BRWD1 c.*7507A>C - 3-UTRSNV 41/41 -
7-1890764-G-A MAD1L1 c.1999-34900C>T - IntronicSNV - 18/18
1-114959540-G-A TRIM33 c.2061+4518C>T - IntronicSNV - 11/19
17-20940688-A-C USP22 c.171+5290T>G - IntronicSNV - 1/12
5-131677997-A-G SLC22A4 c.1581-1456A>G - IntronicSNV - 9/9
1-109935578-T-C SORT1 c.306+4631A>G - IntronicSNV - 1/19
1-155880008-G-C RIT1 c.163+233C>G - IntronicSNV - 3/5
15-42032383-C-T MGA c.4567C>T p.Pro1523Ser Missense 14/24 -
11-57507983-C-T TMX2 c.*266C>T - 3-UTRSNV 8/8 -
7-23482685-G-A IGF2BP3 c.237-24242C>T - IntronicSNV - 2/14
4-74285567-C-A ALB c.1785+211C>A - IntronicSNV - 13/14
15-42032383-C-A MGA c.4567C>A p.Pro1523Thr Missense 14/24 -
17-80113322-T-G CCDC57 c.2241+2302A>C - IntronicSNV - 14/16
5-75003678-T-C POC5 c.32A>G p.His11Arg Missense 2/11 -
5-75003678-T-A POC5 c.32A>T p.His11Leu Missense 2/11 -
16-585021-T-C CAPN15 c.-136-1008T>C - intron_variant - 2/13
19-1056492-G-T ABCA7 c.4580G>T p.Gly1527Val Missense 33/47 -
16-585021-T-G CAPN15 c.-136-1008T>G - intron_variant - 2/13
19-1056492-G-C ABCA7 c.4580G>C p.Gly1527Ala Missense 33/47 -
6-167440128-C-T FGFR1OP c.988+25C>T - IntronicSNV - 10/12
4-74279655-G-C ALB c.1058+304G>C - IntronicSNV - 8/14
15-42820589-G-A SNAP23 c.396G>A p.Thr132Thr Synonymous 6/8 -
3-47452118-G-C PTPN23 c.2830G>C p.Ala944Pro Missense 20/25 -
17-65871598-G-A BPTF c.1865-74G>A - IntronicSNV - 4/29
3-47452118-G-A PTPN23 c.2830G>A p.Ala944Thr Missense 20/25 -
11-64089216-C-G PRDX5 c.*53C>G - 3-UTRSNV 5/5 -
7-99227172-A-G ZSCAN25 c.1164A>G p.Glu388Glu Synonymous 8/8 -
12-53727955-G-A SP7 c.21+1455C>T - IntronicSNV - 2/2
12-123575742-A-G PITPNM2 c.-96+19190T>C - intron_variant - 1/24
12-66343810-C-T HMGA2 c.250-1353C>T - IntronicSNV - 3/4
6-31600820-A-T PRRC2A c.4319+51A>T - IntronicSNV - 16/30
3-50367867-A-C RASSF1 c.*145T>G - 3-UTRSNV 5/5 -
16-11158885-G-C CLEC16A c.2116+4006G>C - IntronicSNV - 19/23
17-28349095-G-A EFCAB5 c.1045-12153G>A - IntronicSNV - 7/22
5-96252803-G-A ERAP2 c.2740-363G>A - IntronicSNV - 18/18
11-77930345-T-C GAB2 c.2004A>G p.Ser668Ser Synonymous 10/10 -
21-47690068-C-T MCM3AP c.2628+247G>A - IntronicSNV - 9/27
16-53196276-T-A CHD9 c.1452+4823T>A - IntronicSNV - 2/38
1-29371390-C-T EPB41 c.1009+5452C>T - IntronicSNV - 12/20
1-214787130-G-T CENPF c.33G>T p.Gly11Gly Synonymous 2/20 -
1-214787130-G-A CENPF c.33G>A p.Gly11Gly Synonymous 2/20 -
16-68120606-A-G NFATC3 c.103+919A>G - IntronicSNV - 1/10
2-39981675-A-C THUMPD2 c.1078+760T>G - IntronicSNV - 8/9
15-56533177-T-G RFX7 c.161+2146A>C - IntronicSNV - 2/9
15-56533177-T-A RFX7 c.161+2146A>T - IntronicSNV - 2/9
6-31600820-A-G PRRC2A c.4319+51A>G - IntronicSNV - 16/30
4-39124750-C-A KLHL5 c.*2064C>A - 3-UTRSNV 12/12 -
1-150783985-T-C ARNT c.*512A>G - 3-UTRSNV 21/21 -
12-110881935-C-T ARPC3 c.106+1322G>A - IntronicSNV - 2/6
16-23864647-C-A PRKCB c.205+15920C>A - IntronicSNV - 2/16
16-68246428-C-T NFATC3 c.3107-1804C>T - IntronicSNV - 9/10
3-50249500-G-A SLC38A3 c.1-2133G>A - IntronicSNV - 1/15
2-11731774-T-G GREB1 c.1346-1128T>G - IntronicSNV - 10/32
6-27775697-G-A HIST1H2BL c.1-13C>T - 5-UTRSNV 1/1 -
6-27775697-G-C HIST1H2BL c.1-13C>G - 5-UTRSNV 1/1 -
7-75986790-T-A YWHAG c.87+1249A>T - IntronicSNV - 1/1
2-99227812-C-T UNC50 c.401+454C>T - IntronicSNV - 3/5
15-42859235-T-G HAUS2 c.*221T>G - 3-UTRSNV 6/6 -
6-31478515-G-A MICB c.*829G>A - 3-UTRSNV 6/6 -
6-31616366-G-A BAG6 c.552+88C>T - IntronicSNV - 6/24
1-114999277-G-A TRIM33 c.923+6449C>T - IntronicSNV - 4/19
2-39981675-A-T THUMPD2 c.1078+760T>A - IntronicSNV - 8/9
6-167369897-C-A RNASET2 c.1-227G>T - 5-UTRSNV 1/9 -
1-196710916-T-C CFH c.2957-89T>C - IntronicSNV - 18/21
2-39993167-T-G THUMPD2 c.803+30A>C - IntronicSNV - 5/9
4-17625658-A-G MED28 c.*237A>G - 3-UTRSNV 4/4 -
1-2205581-C-A SKI c.970-28836C>A - IntronicSNV - 1/6
2-39993167-T-C THUMPD2 c.803+30A>G - IntronicSNV - 5/9
7-117832138-G-A LSM8 c.*82G>A - 3-UTRSNV 4/4 -
1-93306317-G-A RPL5 c.794+121G>A - IntronicSNV - 7/7
1-25169634-A-T CLIC4 c.*2206A>T - 3-UTRSNV 6/6 -
2-198362018-T-C HSPD1 c.273A>G p.Lys91Lys Synonymous 3/12 -
2-96858914-A-C STARD7 c.661-16T>G - IntronicSNV - 4/7
2-96858914-A-G STARD7 c.661-16T>C - IntronicSNV - 4/7
2-27435943-G-A ATRAID c.1-177G>A - IntronicSNV 1/7 -
2-27435943-G-C ATRAID c.1-177G>C - IntronicSNV 1/7 -
1-169512027-T-C F5 c.2301A>G p.Ser767Ser Synonymous 13/25 -
9-37938387-C-G SHB c.1346+10245G>C - IntronicSNV - 5/5
1-145441620-T-C TXNIP c.*402T>C - 3-UTRSNV 8/8 -
3-52833219-G-A ITIH3 c.789+112G>A - IntronicSNV - 7/21
19-1423199-A-G DAZAP1 c.463+804A>G - IntronicSNV - 6/12
12-103245802-A-G PAH c.843-268T>C - IntronicSNV - 7/12
8-145752467-A-T C8orf82 c.*259T>A - 3-UTRSNV 3/3 -
19-19616953-T-G GATAD2A c.*670T>G - 3-UTRSNV 12/12 -
19-19616953-T-A GATAD2A c.*670T>A - 3-UTRSNV 12/12 -
3-52833805-C-A ITIH3 c.943C>A p.Gln315Lys Missense 9/22 -
12-94120339-C-G CRADD c.298+47491C>G - IntronicSNV - 2/2
2-215672546-G-C BARD1 c.158+1590C>G - IntronicSNV - 1/10
2-220146402-C-T DNAJB2 c.176-38C>T - IntronicSNV - 3/9
3-30687030-T-G TGFBR2 c.338+623T>G - IntronicSNV - 3/7
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
8-52781904-T-A PCMTD1 c.1-8193A>T - IntronicSNV - 1/5
2-120518027-A-T PTPN4 c.-18+67A>T - intron_variant - 1/26
9-107591272-G-T ABCA1 c.2040C>A p.Ile680Ile Synonymous 15/50 -
2-3476422-C-A TRAPPC12 c.1777-5044C>A - IntronicSNV - 9/11
4-17950626-A-G LCORL c.430+12900T>C - IntronicSNV - 4/6
2-242211554-G-A HDLBP c.-103+622C>T - intron_variant - 1/27
1-155106550-A-G EFNA1 c.*7A>G - 3-UTRSNV 5/5 -
2-215672546-G-T BARD1 c.158+1590C>A - IntronicSNV - 1/10
3-114362764-C-T ZBTB20 c.-350+49611G>A - intron_variant - 5/9
17-39987130-T-C NT5C3B c.327A>G p.Ala109Ala Synonymous 6/9 -
6-31238138-C-T HLA-C c.744G>A p.Gln248Gln Synonymous 4/8 -
11-77925778-A-G USP35 c.*919A>G - IntergenicSNV 11/11 -
3-30687030-T-C TGFBR2 c.338+623T>C - IntronicSNV - 3/7
4-74283521-C-T ALB c.1428+135C>T - IntronicSNV - 11/14
6-32019746-G-C TNXB c.9109+701C>G - IntronicSNV - 26/43
2-120518027-A-G PTPN4 c.-18+67A>G - intron_variant - 1/26
8-144676234-G-C EEF1D c.-132+3284C>G - intron_variant - 1/9
11-126281897-G-A ST3GAL4 c.760-1503G>A - IntronicSNV - 9/10
2-216300482-T-A FN1 c.44A>T p.Gln15Leu Missense 1/44 -
4-74302215-T-A AFP c.85+151T>A - IntronicSNV - 1/14
2-27729480-G-A GCKR c.968+34G>A - IntronicSNV - 11/18
1-59153010-G-A MYSM1 c.399+1700C>T - IntronicSNV - 6/19
10-114811316-T-C TCF7L2 c.483+11431T>C - IntronicSNV - 4/13
1-115039119-T-A TRIM33 c.526+14053A>T - IntronicSNV - 1/19
6-31864547-G-T EHMT2 c.164C>A p.Thr55Asn Missense 3/28 -
2-39977159-C-T THUMPD2 c.1078+5276G>A - IntronicSNV - 8/9
17-80115399-A-G CCDC57 c.2241+225T>C - IntronicSNV - 14/16
21-40606414-G-A BRWD1 c.2767-1990C>T - IntronicSNV - 23/40
11-78095373-C-T GAB2 c.75+33319G>A - IntronicSNV - 1/9
11-78095373-C-A GAB2 c.75+33319G>T - IntronicSNV - 1/9
4-88973006-T-C PKD2 c.1549-137T>C - IntronicSNV - 6/14
2-219296545-G-A VIL1 c.1103-35G>A - IntronicSNV - 10/19
20-21180259-C-T KIZ c.1353-5871C>T - IntronicSNV - 6/13
3-30686931-T-G TGFBR2 c.338+524T>G - IntronicSNV - 3/7
3-52824610-G-A ITIH1 c.2322-155G>A - IntronicSNV - 19/21
3-38527215-T-C ACVR2B c.*2392T>C - 3-UTRSNV 11/11 -
3-30686931-T-C TGFBR2 c.338+524T>C - IntronicSNV - 3/7
13-99157026-G-A STK24 c.309+14471C>T - IntronicSNV - 2/10
11-31501527-G-A IMMP1L c.-92-6194C>T - intron_variant - 1/6
7-100345106-G-A ZAN c.932-67G>A - IntronicSNV - 8/48
21-40555160-C-G PSMG1 c.134+18G>C - IntronicSNV - 1/6
7-100345106-G-C ZAN c.932-67G>C - IntronicSNV - 8/48
7-117834770-G-A LSM8 c.*2714G>A - 3-UTRSNV 4/4 -
2-99222916-C-T COA5 c.99+1854G>A - IntronicSNV - 1/2
21-40555160-C-T PSMG1 c.134+18G>A - IntronicSNV - 1/6
15-99258710-A-G IGF1R c.640+7374A>G - IntronicSNV - 2/20
12-133348499-C-T GOLGA3 c.*1192G>A - 3-UTRSNV 24/24 -
16-633354-G-A PIGQ c.*319G>A - 3-UTRSNV 11/11 -
1-196686918-G-A CFH c.1696+2019G>A - IntronicSNV - 11/21
15-42861567-A-G HAUS2 c.*2553A>G - 3-UTRSNV 6/6 -
15-89810910-C-T FANCI c.756-720C>T - IntronicSNV - 9/36
3-50311898-C-T SEMA3B c.1238C>T p.Pro413Leu Missense 13/19 -
7-73035857-T-C MLXIPL c.293+2673A>G - IntronicSNV - 1/16
15-59174539-G-T SLTM c.2996+1286C>A - IntronicSNV - 20/20
5-95256974-T-A ELL2 c.196-1725A>T - IntronicSNV - 2/11
8-117767621-T-C EIF3H c.132+284A>G - IntronicSNV - 1/7
3-30687023-G-C TGFBR2 c.338+616G>C - IntronicSNV - 3/7
5-172196711-G-A DUSP1 c.600C>T p.Ile200Ile Synonymous 3/4 -
12-103248272-A-T PAH c.706+642T>A - IntronicSNV - 6/12
1-158612548-T-A SPTA1 c.4605+56A>T - IntronicSNV - 32/51
9-102723692-C-T STX17 c.582+1255C>T - IntronicSNV - 6/7
19-10401607-G-C ICAM5 c.83-141G>C - IntronicSNV - 1/10
11-2999507-G-T NAP1L4 c.73+7C>A - IntronicSNV - 3/15
11-2999507-G-C NAP1L4 c.73+7C>G - IntronicSNV - 3/15
1-90117833-T-C LRRC8C c.-5+18952T>C - intron_variant - 1/2
16-28617057-G-A SULT1A1 c.*85C>T - 3-UTRSNV 8/8 -
6-26184102-G-A HIST1H2BE c.79G>A p.Gly27Ser Missense 1/1 -
5-112242968-C-T REEP5 c.213-4753G>A - IntronicSNV - 2/4
7-92246744-C-G CDK6 c.834+642G>C - IntronicSNV - 7/7
10-114754088-T-C TCF7L2 c.381+42722T>C - IntronicSNV - 3/13
11-118959331-G-A HMBS c.88-14G>A - IntronicSNV - 2/13
11-65368323-G-A MAP3K11 c.1832-1084C>T - IntronicSNV - 8/9
20-34536055-A-G PHF20 c.*506A>G - 3-UTRSNV 18/18 -
12-103248272-A-C PAH c.706+642T>G - IntronicSNV - 6/12
12-103248272-A-G PAH c.706+642T>C - IntronicSNV - 6/12
1-158612548-T-C SPTA1 c.4605+56A>G - IntronicSNV - 32/51
17-80191348-C-T SLC16A3 c.1-2537C>T - IntronicSNV - 1/4
6-31619576-A-G BAG6 c.1-36T>C - IntronicSNV - 1/24
4-17957576-C-T LCORL c.430+5950G>A - IntronicSNV - 4/6
1-90036747-G-A LRRC8B c.-125+2695G>A - intron_variant - 6/8
1-169551682-T-C F5 c.237A>G p.Gln79Gln Synonymous 2/25 -
1-183086757-A-T LAMC1 c.1776A>T p.Ala592Ala Synonymous 10/28 -
8-145021167-C-A PLEC c.194-8307G>T - IntronicSNV - 2/32
1-150658287-A-G GOLPH3L c.183+8845T>C - IntronicSNV - 2/4
10-104849468-G-C NT5C2 c.1647C>G p.Asp549Glu Missense 19/19 -
10-104849468-G-A NT5C2 c.1647C>T p.Asp549Asp Synonymous 19/19 -
11-108096141-A-G ATM c.1-2211A>G - IntronicSNV - 1/62
7-150667210-C-A KCNH2 c.307+4589G>T - IntronicSNV - 2/14
20-33592763-C-A TRPC4AP c.1937-390G>T - IntronicSNV - 16/18
15-99271135-A-G IGF1R c.640+19799A>G - IntronicSNV - 2/20
14-32093548-G-A NUBPL c.382+24963G>A - IntronicSNV - 4/10
20-33592763-C-T TRPC4AP c.1937-390G>A - IntronicSNV - 16/18
1-11860458-C-G MTHFR c.476-79G>C - IntronicSNV - 3/11
2-44701901-T-A CAMKMT c.376+84457T>A - IntronicSNV - 3/10
6-167431910-G-T FGFR1OP c.580-3987G>T - IntronicSNV - 7/12
6-167431910-G-A FGFR1OP c.580-3987G>A - IntronicSNV - 7/12
7-75975586-C-T YWHAG c.87+12453G>A - IntronicSNV - 1/1
1-8424039-C-G RERE c.1740+77G>C - IntronicSNV - 15/22
7-75975586-C-G YWHAG c.87+12453G>C - IntronicSNV - 1/1
2-210880893-C-G RPE c.139-35C>G - IntronicSNV - 2/5
19-41306362-G-C EGLN2 c.1-116G>C - 5-UTRSNV 2/6 -
5-95246760-G-A ELL2 c.481+2715C>T - IntronicSNV - 4/11
19-41306362-G-A EGLN2 c.1-116G>A - 5-UTRSNV 2/6 -
5-138949362-G-T UBE2D2 c.-64+7370G>T - intron_variant - 2/7
7-117834049-A-G LSM8 c.*1993A>G - 3-UTRSNV 4/4 -
1-114973429-T-C TRIM33 c.1146A>G p.Gln382Gln Synonymous 6/20 -
2-219146803-G-A TMBIM1 c.62C>T p.Pro21Leu Missense 2/12 -
1-205683355-T-G NUCKS1 c.*4053A>C - 3-UTRSNV 7/7 -
17-65876477-G-C BPTF c.2053+4617G>C - IntronicSNV - 5/29
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
2-61716924-G-C XPO1 c.2022+853C>G - IntronicSNV - 17/24
12-107350088-C-A TMEM263 c.-75+245C>A - intron_variant - 1/3
11-77931346-C-T GAB2 c.1887+19G>A - IntronicSNV - 9/9
13-33160705-C-A PDS5B c.-45C>A - 5_prime_UTR_variant 1/35 -
11-77931346-C-A GAB2 c.1887+19G>T - IntronicSNV - 9/9
11-77931346-C-G GAB2 c.1887+19G>C - IntronicSNV - 9/9
1-109946882-T-C PSMA5 c.649-2170A>G - IntronicSNV - 8/8
1-158607935-T-G SPTA1 c.5077A>C p.Lys1693Gln Missense 36/52 -
20-25260931-A-C PYGB c.1122A>C p.Ala374Ala Synonymous 10/20 -
20-25260931-A-G PYGB c.1122A>G p.Ala374Ala Synonymous 10/20 -
16-56974791-A-G HERPUD1 c.902+634A>G - IntronicSNV - 6/7
3-99573547-G-A FILIP1L c.1-3748C>T - IntronicSNV - 1/1
7-6431404-G-A RAC1 c.108-151G>A - IntronicSNV - 2/6
15-58253106-T-C ALDH1A2 c.1347-64A>G - IntronicSNV - 12/13
16-68304392-C-A SLC7A6 c.-37+3768C>A - intron_variant - 2/10
11-66041079-G-A RAB1B c.279+1148G>A - IntronicSNV - 4/5
11-59837097-C-T MS4A3 c.195C>T p.Thr65Thr Synonymous 4/5 -
18-67283141-A-G DOK6 c.289+16407A>G - IntronicSNV - 3/7
2-219099484-T-C ARPC2 c.268+364T>C - IntronicSNV - 4/9
12-120933977-T-C DYNLL1 c.-49T>C - 5_prime_UTR_variant 1/3 -
7-138175763-G-C TRIM24 c.365-13272G>C - IntronicSNV - 1/18
1-54303469-T-G NDC1 c.57+409A>C - IntronicSNV - 1/17
19-50909765-C-T POLD1 c.1485C>T p.Thr495Thr Synonymous 12/27 -
2-219650718-G-A CYP27A1 c.255+3558G>A - IntronicSNV - 1/8
16-67471956-G-A ATP6V0D1 c.*475C>T - 3-UTRSNV 8/8 -
6-29910986-G-T HLA-A c.344-59G>T - IntronicSNV - 2/7
6-29910986-G-A HLA-A c.344-59G>A - IntronicSNV - 2/7
6-31378425-A-C MICA c.176A>C p.Tyr59Ser Missense 2/6 -
17-41846468-C-T DUSP3 c.*509G>A - 3-UTRSNV 3/3 -
21-47642016-C-T LSS c.429-127G>A - IntronicSNV - 4/22
6-117923599-T-C GOPC c.1-148A>G - 5-UTRSNV 1/9 -
12-50901882-T-C DIP2B c.100+2859T>C - IntronicSNV - 1/37
9-107586753-T-C ABCA1 c.2649A>G p.Ile883Met Missense 18/50 -
7-138175763-G-T TRIM24 c.365-13272G>T - IntronicSNV - 1/18
16-11969724-G-C GSPT1 c.1755C>G p.Val585Val Synonymous 14/15 -
21-44488033-T-C CBS c.316+586A>G - IntronicSNV - 4/16
7-103625877-T-C RELN c.226+3701A>G - IntronicSNV - 1/64
3-49719729-G-A APEH c.1604-52G>A - IntronicSNV - 17/21
18-21140432-T-C NPC1 c.644A>G p.His215Arg Missense 6/25 -
17-27769598-G-A TAOK1 c.1-8969G>A - IntronicSNV - 1/19
2-219545309-T-C STK36 c.1137-17T>C - IntronicSNV - 9/26
1-162085685-G-T NOS1AP c.106-38510G>T - IntronicSNV - 1/9
11-63991801-T-C TRPT1 c.368A>G p.His123Arg Missense 5/7 -
22-22115004-C-G MAPK1 c.*3535G>C - 3_prime_UTR_variant 9/9 -
8-22262418-A-G SLC39A14 c.195A>G p.Leu65Leu Synonymous 2/9 -
12-124082240-C-T TMED2 c.*964C>T - 3-UTRSNV 4/4 -
12-124082240-C-A TMED2 c.*964C>A - 3-UTRSNV 4/4 -
12-124082240-C-G TMED2 c.*964C>G - 3-UTRSNV 4/4 -
7-107561155-T-C DLD c.*1451T>C - 3-UTRSNV 14/14 -
6-31732059-T-C SAPCD1 c.368T>C p.Leu123Pro Missense 4/5 -
6-31914179-C-T CFB c.94C>T p.Arg32Trp Missense 2/18 -
7-105180384-C-T RINT1 c.274-2471C>T - IntronicSNV - 3/14
6-111695268-C-T REV3L c.4290G>A p.Val1430Val Synonymous 14/33 -
4-1238246-G-A CTBP1 c.40+4458C>T - IntronicSNV - 1/8
4-1238246-G-C CTBP1 c.40+4458C>G - IntronicSNV - 1/8
6-31112484-C-T CCHCR1 c.1880G>A p.Arg627Gln Missense 15/18 -
6-31914179-C-G CFB c.94C>G p.Arg32Gly Missense 2/18 -
16-4015729-C-T ADCY9 c.*47G>A - 3-UTRSNV 11/11 -
17-42225547-A-C C17orf53 c.376A>C p.Thr126Pro Missense 3/10 -
1-59137783-A-G MYSM1 c.1573-153T>C - IntronicSNV - 11/19
3-49721798-C-A MST1 c.1965G>T p.Arg655Arg Synonymous 17/18 -
5-122737498-C-T CEP120 c.464-2520G>A - IntronicSNV - 5/20
15-67466599-A-G SMAD3 c.658+3657A>G - IntronicSNV - 5/8
6-31378425-A-G MICA c.176A>G p.Tyr59Cys Missense 2/6 -
1-1249187-G-C INTS11 c.882C>G p.Phe294Leu Missense 9/17 -
2-112751928-G-A MERTK c.1397G>A p.Arg466Lys Missense 9/19 -
2-112751928-G-C MERTK c.1397G>C p.Arg466Thr Missense 9/19 -
2-242287487-T-G SEPT2 c.927-62T>G - IntronicSNV - 10/12
19-55538980-T-G GP6 c.576A>C p.Ser192Ser Synonymous 4/8 -
1-110590816-C-T STRIP1 c.1661+325C>T - IntronicSNV - 15/20
1-67681669-T-G IL23R c.799-3588T>G - IntronicSNV - 6/10
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
7-1912222-A-G MAD1L1 c.1998+25614T>C - IntronicSNV - 18/18
2-61729258-A-G XPO1 c.364-83T>C - IntronicSNV - 5/24
10-114773927-A-G TCF7L2 c.382-25857A>G - IntronicSNV - 3/13
3-38446073-C-T XYLB c.1533+3597C>T - IntronicSNV - 18/18
20-47874005-A-T ZNFX1 c.2613T>A p.His871Gln Missense 8/14 -
20-47874005-A-G ZNFX1 c.2613T>C p.His871His Synonymous 8/14 -
16-31088625-A-G ZNF646 c.980A>G p.Glu327Gly Missense 2/3 -
7-92264410-T-C CDK6 c.648-12010A>G - IntronicSNV - 5/7
11-6505524-G-A TIMM10B c.*2073G>A - 3-UTRSNV 3/3 -
1-156169610-A-G SLC25A44 c.1-29A>G - IntronicSNV - 1/3
1-183112041-G-C LAMC1 c.*116G>C - 3-UTRSNV 28/28 -
15-89851580-G-A FANCI c.3471+677G>A - IntronicSNV - 33/36
16-68172490-A-G NFATC3 c.1401+11977A>G - IntronicSNV - 3/10
11-77937800-G-A GAB2 c.918C>T p.Phe306Phe Synonymous 4/10 -
20-21146816-A-T KIZ c.1352+3016A>T - IntronicSNV - 6/13
20-21146816-A-C KIZ c.1352+3016A>C - IntronicSNV - 6/13
8-38130025-G-A NSD3 c.*3134C>T - IntergenicSNV 24/24 -
11-68856680-G-A TPCN2 c.*1259G>A - 3-UTRSNV 25/25 -
19-55538980-T-C GP6 c.576A>G p.Ser192Ser Synonymous 4/8 -
3-30710140-G-C TGFBR2 c.530-2990G>C - IntronicSNV - 4/7
15-99264767-C-A IGF1R c.640+13431C>A - IntronicSNV - 2/20
21-40580003-C-T BRWD1 c.4198-1803G>A - IntronicSNV - 36/40
7-121031879-C-T FAM3C c.-42+4377G>A - intron_variant - 1/9
21-47705237-T-A MCM3AP c.1-37A>T - IntergenicSNV 1/28 -
11-17394073-C-A NCR3LG1 c.*14C>A - 3-UTRSNV 5/5 -
6-10982973-T-C ELOVL2 c.*1041A>G - 3-UTRSNV 8/8 -
19-10406431-T-G ICAM5 c.2497+143T>G - IntronicSNV - 10/10
11-57481155-G-A TMX2 c.189+876G>A - IntronicSNV - 1/7
12-46294908-G-C ARID2 c.5364-3809G>C - IntronicSNV - 20/20
6-30887972-C-T VARS2 c.1272C>T p.Ser424Ser Synonymous 13/30 -
17-7478498-G-A EIF4A1 c.267G>A p.Ser89Ser Synonymous 4/11 -
2-201185919-C-A SPATS2L c.-72-8235C>A - intron_variant - 1/12
11-27516789-C-A LIN7C c.*3407G>T - 3-UTRSNV 5/5 -
16-31044897-G-A STX4 c.1-230G>A - 5-UTRSNV 1/11 -
11-27516789-C-T LIN7C c.*3407G>A - 3-UTRSNV 5/5 -
2-242439938-A-C STK25 c.318+217T>G - IntronicSNV - 4/11
20-13123733-T-G SPTLC3 c.1280-10917T>G - IntronicSNV - 9/11
19-48374551-C-G SULT2A1 c.*161G>C - 3-UTRSNV 6/6 -
19-48374551-C-A SULT2A1 c.*161G>T - 3-UTRSNV 6/6 -
5-1344458-G-T CLPTM1L c.263+8C>A - IntronicSNV - 2/16
16-53192331-T-C CHD9 c.1452+878T>C - IntronicSNV - 2/38
1-114996324-T-C TRIM33 c.923+9402A>G - IntronicSNV - 4/19
5-1342714-C-A CLPTM1L c.264-739G>T - IntronicSNV - 2/16
3-49453834-C-T TCTA c.*1539C>T - 3-UTRSNV 3/3 -
11-17408630-C-T KCNJ11 c.1009G>A p.Val337Ile Missense 1/1 -
19-10395683-A-G ICAM1 c.1405A>G p.Lys469Glu Missense 6/7 -
16-23865170-T-C PRKCB c.205+16443T>C - IntronicSNV - 2/16
2-39999341-G-A THUMPD2 c.127-561C>T - IntronicSNV - 1/9
6-29913298-A-T HLA-A c.*66A>T - 3-UTRSNV 8/8 -
10-124165615-G-A PLEKHA1 c.245-477G>A - IntronicSNV - 4/11
1-109884775-T-G SORT1 c.969A>C p.Thr323Thr Synonymous 9/20 -
12-103244013-G-T PAH c.912+1452C>A - IntronicSNV - 8/12
20-13123733-T-C SPTLC3 c.1280-10917T>C - IntronicSNV - 9/11
2-61740646-C-G XPO1 c.301+9100G>C - IntronicSNV - 4/24
2-61740646-C-A XPO1 c.301+9100G>T - IntronicSNV - 4/24
12-66358347-C-T HMGA2 c.*1275C>T - 3-UTRSNV 5/5 -
17-74414559-T-C UBE2O c.418-12905A>G - IntronicSNV - 1/17
14-24615435-T-C PSME2 c.63A>G p.Arg21Arg Synonymous 2/11 -
16-74695409-G-T RFWD3 c.1-62C>A - IntronicSNV 1/13 -
7-138230820-C-T TRIM24 c.1144-4988C>T - IntronicSNV - 7/18
8-30418605-A-G RBPMS c.*2139A>G - IntronicSNV - 8/8
16-30977799-G-C SETD1A c.2505+92G>C - IntronicSNV - 8/18
2-148716428-T-A ORC4 c.233A>T p.Asn78Ile Missense 5/14 -
16-84802666-T-G USP10 c.2010+702T>G - IntronicSNV - 12/14
7-128884057-A-G AHCYL2 c.363+18777A>G - IntronicSNV - 1/16
2-148716428-T-C ORC4 c.233A>G p.Asn78Ser Missense 5/14 -
2-148716428-T-G ORC4 c.233A>C p.Asn78Thr Missense 5/14 -
4-84374480-C-T HELQ c.916G>A p.Val306Ile Missense 2/18 -
1-156279811-G-A CCT3 c.1533+538C>T - IntronicSNV - 13/13
4-74304378-G-A AFP c.270+355G>A - IntronicSNV - 3/14
19-5832209-G-A FUT6 c.370C>T p.Pro124Ser Missense 3/3 -
1-90328122-G-A LRRC8D c.-3+18781G>A - intron_variant - 2/2
1-59158161-A-G MYSM1 c.218+372T>C - IntronicSNV - 3/19
7-89977760-A-T GTPBP10 c.33+1672A>T - IntronicSNV - 1/9
3-30682947-T-C TGFBR2 c.170-3292T>C - IntronicSNV - 2/7
1-183114119-C-T LAMC1 c.*2194C>T - 3-UTRSNV 28/28 -
2-219609162-T-G TTLL4 c.1662-670T>G - IntronicSNV - 5/19
17-80113322-T-C CCDC57 c.2241+2302A>G - IntronicSNV - 14/16
11-64081445-G-A ESRRA c.348G>A p.Pro116Pro Synonymous 3/7 -
11-5471746-G-A OR51B5 c.-360+55053C>T - intron_variant - 1/4
10-104748718-A-G CNNM2 c.1622-60746A>G - IntronicSNV - 1/7
5-95247634-A-C ELL2 c.481+1841T>G - IntronicSNV - 4/11
8-109228008-A-T EIF3E c.951+633T>A - IntronicSNV - 9/12
20-25206654-A-G ENTPD6 c.*421A>G - 3-UTRSNV 14/14 -
6-27775674-A-G HIST1H2BL c.11T>C p.Leu4Pro Missense 1/1 -
17-56709086-C-T TEX14 c.137-1171G>A - IntronicSNV - 2/32
6-29911092-G-C HLA-A c.391G>C p.Gly131Arg Missense 3/8 -
4-74285239-C-T ALB c.1668C>T p.Leu556Leu Synonymous 13/15 -
6-31122315-G-C CCHCR1 c.492C>G p.Ser164Arg Missense 4/18 -
17-56584508-T-A MTMR4 c.838A>T p.Ser280Cys Missense 9/19 -
3-52721305-G-A GNL3 c.116G>A p.Arg39Gln Missense 3/15 -
1-155931368-G-C ARHGEF2 c.1384+84C>G - IntronicSNV - 11/21
1-155931368-G-A ARHGEF2 c.1384+84C>T - IntronicSNV - 11/21
1-55505732-A-G PCSK9 c.207+15A>G - IntronicSNV - 1/11
1-109897103-A-C SORT1 c.594T>G p.Phe198Leu Missense 5/20 -
17-80109806-C-T CCDC57 c.2241+5818G>A - IntronicSNV - 14/16
2-174232622-C-T CDCA7 c.*230C>T - 3-UTRSNV 10/10 -
17-56709086-C-A TEX14 c.137-1171G>T - IntronicSNV - 2/32
6-29911092-G-T HLA-A c.391G>T p.Gly131Trp Missense 3/8 -
1-8658527-T-G RERE c.522+16093A>C - IntronicSNV - 4/22
17-20904669-A-C USP22 c.*1675T>G - 3-UTRSNV 13/13 -
5-110434261-T-A WDR36 c.460-159T>A - IntronicSNV - 3/22
5-150436503-G-C TNIP1 c.451C>G p.Pro151Ala Missense 6/18 -
5-150436503-G-A TNIP1 c.451C>T p.Pro151Ser Missense 6/18 -
1-183029070-T-G LAMC1 c.418+35801T>G - IntronicSNV - 1/27
20-33590358-C-T TRPC4AP c.*591G>A - 3-UTRSNV 19/19 -
1-183079509-C-T LAMC1 c.855-114C>T - IntronicSNV - 3/27
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
2-27801759-A-G C2orf16 c.2320A>G p.Ile774Val Missense 1/1 -
17-80113322-T-A CCDC57 c.2241+2302A>T - IntronicSNV - 14/16
3-30710243-A-G TGFBR2 c.530-2887A>G - IntronicSNV - 4/7
19-18304700-A-G MPV17L2 c.214A>G p.Met72Val Missense 2/5 -
19-18304700-A-T MPV17L2 c.214A>T p.Met72Leu Missense 2/5 -
6-41533579-C-T FOXP4 c.81C>T p.Ala27Ala Synonymous 2/17 -
6-31928691-G-A SKIV2L c.545-127G>A - IntronicSNV - 6/27
2-99149946-G-A INPP4A c.258G>A p.Thr86Thr Synonymous 5/26 -
2-216300185-C-T FN1 c.148+193G>A - IntronicSNV - 1/43
4-89039082-A-G ABCG2 c.841+179T>C - IntronicSNV - 7/15
2-166897864-A-T SCN1A c.2259T>A p.Val753Val Synonymous 16/29 -
3-38443320-G-A XYLB c.1533+844G>A - IntronicSNV - 18/18
3-38443320-G-C XYLB c.1533+844G>C - IntronicSNV - 18/18
2-166897864-A-G SCN1A c.2259T>C p.Val753Val Synonymous 16/29 -
16-15129940-C-T PDXDC1 c.2175C>T p.His725His Synonymous 23/23 -
2-27839369-T-C ZNF512 c.1296+178T>C - IntronicSNV - 12/13
2-219082330-A-G ARPC2 c.74+63A>G - IntronicSNV - 1/9
2-239360121-T-A ASB1 c.*4969T>A - 3-UTRSNV 5/5 -
16-15129940-C-A PDXDC1 c.2175C>A p.His725Gln Missense 23/23 -
11-65302893-G-A SCYL1 c.1386+40G>A - IntronicSNV - 10/17
1-26887592-T-C RPS6KA1 c.1398T>C p.Tyr466Tyr Synonymous 16/22 -
5-95278679-G-A ELL2 c.195+27C>T - IntronicSNV - 2/11
4-17877487-A-G LCORL c.776+10204T>C - IntronicSNV - 6/6
3-52838402-T-C ITIH3 c.1865-340T>C - IntronicSNV - 14/21
20-25207074-T-C ENTPD6 c.*841T>C - 3-UTRSNV 14/14 -
17-58024324-A-G RPS6KB1 c.*175A>G - 3-UTRSNV 15/15 -
7-2257612-G-A MAD1L1 c.663C>T p.His221His Synonymous 7/19 -
21-47644667-T-C LSS c.320-2015A>G - IntronicSNV - 3/22
6-29911064-A-G HLA-A c.363A>G p.Ile121Met Missense 3/8 -
5-115471298-A-G COMMD10 c.510+1423A>G - IntronicSNV - 5/6
9-111755008-C-T CTNNAL1 c.423G>A p.Val141Val Synonymous 3/19 -
16-74670458-C-T RFWD3 c.1212G>A p.Thr404Thr Synonymous 8/13 -
1-85793746-G-A DDAH1 c.289-3180C>T - IntronicSNV - 5/6
8-94715291-A-G FAM92A c.262-557A>G - IntronicSNV - 2/8
12-112521448-G-A NAA25 c.403-2510C>T - IntronicSNV - 4/23
2-215672546-G-A BARD1 c.158+1590C>T - IntronicSNV - 1/10
6-76357426-C-T SENP6 c.480-21C>T - IntronicSNV - 6/23
3-114362764-C-G ZBTB20 c.-350+49611G>C - intron_variant - 5/9
15-75136257-A-T SCAMP2 c.*1167T>A - IntergenicSNV 9/9 -
12-57133140-T-G PRIM1 c.990A>C p.Ile330Ile Synonymous 10/13 -
12-56815281-T-C TIMELESS c.2726-4A>G - IntronicSNV - 22/28
2-215635794-T-C BARD1 c.1315-1758A>G - IntronicSNV - 4/10
16-31095171-C-T ZNF646 c.*758C>T - IntergenicSNV 3/3 -
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
1-183093875-T-C LAMC1 c.2511T>C p.Asn837Asn Synonymous 14/28 -
1-183093875-T-A LAMC1 c.2511T>A p.Asn837Lys Missense 14/28 -
1-183093875-T-G LAMC1 c.2511T>G p.Asn837Lys Missense 14/28 -
1-65816567-A-G DNAJC6 c.194-13751A>G - IntronicSNV - 1/18
1-67670916-G-A IL23R c.653-1677G>A - IntronicSNV - 5/10
1-64108771-T-C PGM1 c.1144+4300T>C - IntronicSNV - 7/10
12-66338202-G-T HMGA2 c.250-6961G>T - IntronicSNV - 3/4
4-39116911-T-C KLHL5 c.2034T>C p.Thr678Thr Synonymous 11/12 -
20-33914208-A-G UQCC1 c.574-11640T>C - IntronicSNV - 7/9
7-72863249-T-G BAZ1B c.3728+623A>C - IntronicSNV - 15/19
1-65815659-C-T DNAJC6 c.194-14659C>T - IntronicSNV - 1/18
2-27715416-C-T FNDC4 c.670-71G>A - IntronicSNV - 6/6
2-63008414-T-C EHBP1 c.312+9887T>C - IntronicSNV - 5/24
2-63008414-T-A EHBP1 c.312+9887T>A - IntronicSNV - 5/24
1-29345027-T-G EPB41 c.497+73T>G - IntronicSNV - 8/20
16-31091209-T-A ZNF646 c.3564T>A p.Thr1188Thr Synonymous 2/3 -
20-48566065-A-C RNF114 c.621+173A>C - IntronicSNV - 5/5
17-2145193-T-C SMG6 c.-2+2759A>G - intron_variant - 2/11
6-33659536-A-G ITPR3 c.7330+40A>G - IntronicSNV - 53/57
5-172196752-A-G DUSP1 c.559T>C p.Tyr187His Missense 3/4 -
16-67867739-G-T CENPT c.24C>A p.Ser8Arg Missense 4/16 -
16-31091209-T-C ZNF646 c.3564T>C p.Thr1188Thr Synonymous 2/3 -
17-39987130-T-A NT5C3B c.327A>T p.Ala109Ala Synonymous 6/9 -
11-46828799-A-T CKAP5 c.978+782T>A - IntronicSNV - 8/42
16-88528780-T-C ZFPM1 c.40+8694T>C - IntronicSNV - 1/9
1-114448389-C-T DCLRE1B c.181C>T p.His61Tyr Missense 1/4 -
1-26568542-T-C CEP85 c.56-2115T>C - IntronicSNV - 2/13
20-34023962-G-A GDF5 c.631+1116C>T - IntronicSNV - 1/1
4-1240299-T-G CTBP1 c.40+2405A>C - IntronicSNV - 1/8
13-99131294-C-T STK24 c.366+3225G>A - IntronicSNV - 3/10
21-40682773-C-T BRWD1 c.198+1994G>A - IntronicSNV - 4/40
1-183112505-T-C LAMC1 c.*580T>C - 3-UTRSNV 28/28 -
1-50937848-T-C FAF1 c.1869+3288A>G - IntronicSNV - 18/18
16-67984589-A-G SLC12A4 c.1422T>C p.Gly474Gly Synonymous 11/24 -
16-89713174-C-T CHMP1A c.382-52G>A - IntronicSNV - 5/6
15-89869329-G-C POLG c.1713-412C>G - IntronicSNV - 9/22
6-167442994-C-A FGFR1OP c.988+2891C>A - IntronicSNV - 10/12
4-17627856-G-A MED28 c.*2435G>A - IntergenicSNV 4/4 -
1-153848996-G-A GATAD2B c.-2+46213C>T - intron_variant - 1/10
4-74283521-C-A ALB c.1428+135C>A - IntronicSNV - 11/14
6-117871836-G-A DCBLD1 c.1615+5076G>A - IntronicSNV - 14/14
7-123388474-A-G WASL c.117+198T>C - IntronicSNV - 1/10
7-72863249-T-C BAZ1B c.3728+623A>G - IntronicSNV - 15/19
16-71959748-C-T IST1 c.897+1028C>T - IntronicSNV - 9/9
1-109936682-G-A SORT1 c.306+3527C>T - IntronicSNV - 1/19
3-48461313-C-G PLXNB1 c.2382G>C p.Pro794Pro Synonymous 11/38 -
7-75978229-C-A YWHAG c.87+9810G>T - IntronicSNV - 1/1
7-106763218-G-A PRKAR2B c.396+769G>A - IntronicSNV - 3/10
7-106763218-G-C PRKAR2B c.396+769G>C - IntronicSNV - 3/10
4-1236083-C-T CTBP1 c.41-3958G>A - IntronicSNV - 1/8
20-25281398-C-T ABHD12 c.1157+1457G>A - IntronicSNV - 12/12
6-31378965-G-C MICA c.442G>C p.Glu148Gln Missense 3/6 -
7-72987354-C-T TBL2 c.599-54G>A - IntronicSNV - 4/6
6-7118990-A-T RREB1 c.-285+10697A>T - intron_variant - 1/11
16-28837203-T-G ATXN2L c.465+41T>G - IntronicSNV - 4/21
19-10766798-A-C ILF3 c.-91+1635A>C - intron_variant - 1/17
19-10766798-A-T ILF3 c.-91+1635A>T - intron_variant - 1/17
1-114448389-C-G DCLRE1B c.181C>G p.His61Asp Missense 1/4 -
2-43015719-T-C HAAO c.109A>G p.Ile37Val Missense 2/10 -
15-58314679-G-A ALDH1A2 c.55-8200C>T - IntronicSNV - 2/13
17-20918834-T-C USP22 c.838+231A>G - IntronicSNV - 6/12
17-20918834-T-A USP22 c.838+231A>T - IntronicSNV - 6/12
4-39116911-T-G KLHL5 c.2034T>G p.Thr678Thr Synonymous 11/12 -
6-7118990-A-G RREB1 c.-285+10697A>G - intron_variant - 1/11
6-47580657-A-G CD2AP c.1878+385A>G - IntronicSNV - 17/17
3-65470507-A-G MAGI1 c.551-6034T>C - IntronicSNV - 3/22
15-67450305-A-G SMAD3 c.207-6928A>G - IntronicSNV - 1/8
11-3028140-G-A CARS c.1869C>T p.Pro623Pro Synonymous 18/22 -
7-128415195-T-G OPN1SW c.366A>C p.Gly122Gly Synonymous 2/5 -
5-96290647-C-T LNPEP c.19+18769C>T - IntronicSNV - 1/17
2-242269024-A-C SEPT2 c.130+3496A>C - IntronicSNV - 3/12
5-112221869-C-T REEP5 c.520+843G>A - IntronicSNV - 4/4
20-32626107-G-A RALY c.-10+6697G>A - intron_variant - 2/8
19-58770883-G-A ZNF544 c.245-1334G>A - IntronicSNV - 6/6
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19
12-6450945-T-C TNFRSF1A c.36A>G p.Pro12Pro Synonymous 1/10 -
8-145744429-C-T LRRC14 c.1-681C>T - IntronicSNV - 1/3
12-122628516-A-T MLXIP c.*2157A>T - 3_prime_UTR_variant 17/17 -
11-77927101-A-G GAB2 c.*3217T>C - 3-UTRSNV 10/10 -
17-38062196-G-A GSDMB c.865C>T p.Pro289Ser Missense 6/8 -
17-80112599-G-C CCDC57 c.2241+3025C>G - IntronicSNV - 14/16
19-10818092-G-A QTRT1 c.530+36G>A - IntronicSNV - 4/9
20-62887339-T-G PCMTD2 c.-25+116T>G - intron_variant - 1/5
22-22157661-T-C MAPK1 c.492+2478A>G - IntronicSNV - 3/8
13-40258085-G-A COG6 c.788+1684G>A - IntronicSNV - 8/18
7-75616105-G-A POR c.*306G>A - 3-UTRSNV 16/16 -
2-215644335-C-T BARD1 c.1314+949G>A - IntronicSNV - 4/10
19-55526359-A-G GP6 c.954T>C p.Ala318Ala Synonymous 8/8 -
19-55526359-A-T GP6 c.954T>A p.Ala318Ala Synonymous 8/8 -
1-93148377-C-T EVI5 c.1230-5602G>A - IntronicSNV - 9/17
18-67283041-A-C DOK6 c.289+16307A>C - IntronicSNV - 3/7
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
16-23864590-T-C PRKCB c.205+15863T>C - IntronicSNV - 2/16
4-155490832-C-T FGB c.1125C>T p.Tyr375Tyr Synonymous 7/8 -
6-32135878-G-C EGFL8 c.*145G>C - 3-UTRSNV 9/9 -
6-7112819-A-G RREB1 c.-285+4526A>G - intron_variant - 1/11
17-80112599-G-T CCDC57 c.2241+3025C>A - IntronicSNV - 14/16
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
10-124192430-T-C PLEKHA1 c.*2976T>C - IntergenicSNV 12/12 -
2-215644335-C-G BARD1 c.1314+949G>C - IntronicSNV - 4/10
10-13375906-T-C SEPHS1 c.471A>G p.Thr157Thr Synonymous 5/9 -
17-53034628-T-A TOM1L1 c.1371-3299T>A - IntronicSNV - 14/15
9-111801325-G-C TMEM245 c.2124-928C>G - IntronicSNV - 14/17
17-20940688-A-G USP22 c.171+5290T>C - IntronicSNV - 1/12
11-31527606-A-G IMMP1L c.-93+3460T>C - intron_variant - 1/6
16-28915527-G-A ATP2A1 c.*64G>A - 3_prime_UTR_variant 23/23 -
16-28915527-G-T ATP2A1 c.*64G>T - 3_prime_UTR_variant 23/23 -
8-30936356-G-T WRN c.840-2027G>T - IntronicSNV - 8/34
6-30876152-C-T GTF2H4 c.-32C>T - 5_prime_UTR_variant 1/14 -
1-61791863-G-A NFIA c.626-6321G>A - IntronicSNV - 3/9
5-56178217-A-C MAP3K1 c.3190A>C p.Arg1064Arg Synonymous 14/20 -
5-56178217-A-G MAP3K1 c.3190A>G p.Arg1064Gly Missense 14/20 -
17-28458105-A-G NSRP1 c.114+12914A>G - IntronicSNV - 2/6
2-198631714-G-A BOLL c.481-387C>T - IntronicSNV - 6/10
15-58318603-G-T ALDH1A2 c.55-12124C>A - IntronicSNV - 2/13
12-46294908-G-T ARID2 c.5364-3809G>T - IntronicSNV - 20/20
6-33660188-T-C ITPR3 c.7459-317T>C - IntronicSNV - 54/57
8-144657600-G-A NAPRT c.1284C>T p.Gly428Gly Synonymous 10/13 -
3-30682939-G-T TGFBR2 c.170-3300G>T - IntronicSNV - 2/7
3-30682939-G-C TGFBR2 c.170-3300G>C - IntronicSNV - 2/7
1-115039119-T-C TRIM33 c.526+14053A>G - IntronicSNV - 1/19
3-99844293-G-A CMSS1 c.65-21524G>A - IntronicSNV - 1/9
16-30995669-T-C SETD1A c.*325T>C - 3-UTRSNV 19/19 -
5-148904092-A-T CSNK1A1 c.357+516T>A - IntronicSNV - 3/9
15-89866286-G-A POLG c.2266-153C>T - IntronicSNV - 13/22
20-21126723-A-G KIZ c.405+428A>G - IntronicSNV - 4/13
1-156233189-C-T SMG5 c.2028G>A p.Ala676Ala Synonymous 13/22 -
1-21410231-C-A EIF4G3 c.-196+27585G>T - intron_variant - 1/31
10-114812071-T-C TCF7L2 c.483+12186T>C - IntronicSNV - 4/13
15-65998702-T-A DENND4A c.1954-140A>T - IntronicSNV - 14/31
6-33662295-G-C ITPR3 c.7786-406G>C - IntronicSNV - 56/57
11-68177510-C-T LRP5 c.2220C>T p.Asn740Asn Synonymous 10/23 -
1-117100957-A-G CD58 c.70+12568T>C - IntronicSNV - 1/5
2-61629408-C-T USP34 c.552+3435G>A - IntronicSNV - 3/79
2-11724475-A-G GREB1 c.902-812A>G - IntronicSNV - 7/32
21-40596085-G-A BRWD1 c.3382+249C>T - IntronicSNV - 29/40
5-95282091-A-C ELL2 c.148-3338T>G - IntronicSNV - 1/11
17-80191425-C-T SLC16A3 c.1-2460C>T - IntronicSNV - 1/4
1-196973183-T-C CFHR5 c.1331-608T>C - IntronicSNV - 8/9
7-103628036-C-T RELN c.226+1542G>A - IntronicSNV - 1/64
6-31379823-C-G MICA c.713C>G p.Thr238Ser Missense 4/6 -
3-52566682-G-A NT5DC2 c.121+1867C>T - IntronicSNV - 1/13
6-31379823-C-A MICA c.713C>A p.Thr238Asn Missense 4/6 -
7-105172685-G-C RINT1 c.1-78G>C - 5-UTRSNV 1/15 -
1-59147926-T-C MYSM1 c.790A>G p.Thr264Ala Missense 8/20 -
7-73017005-A-G MLXIPL c.902-2980T>C - IntronicSNV - 7/16
16-28490517-T-C CLN3 c.1057-1319A>G - IntronicSNV - 13/14
12-124499542-G-A ZNF664 c.*2065G>A - 3-UTRSNV 5/5 -
1-93303603-T-C RPL5 c.705+413T>C - IntronicSNV - 6/7
8-145021167-C-G PLEC c.194-8307G>C - IntronicSNV - 2/32
15-99259016-G-A IGF1R c.640+7680G>A - IntronicSNV - 2/20
4-170626552-T-C CLCN3 c.1669+1217T>C - IntronicSNV - 9/11
5-149210848-C-T PPARGC1B c.582+402C>T - IntronicSNV - 4/11
1-169511734-T-C F5 c.2594A>G p.His865Arg Missense 13/25 -
1-150727539-G-C CTSS c.337C>G p.Arg113Gly Missense 4/8 -
1-150727539-G-A CTSS c.337C>T p.Arg113Trp Missense 4/8 -
2-201171191-C-T SPATS2L c.-73+308C>T - intron_variant - 1/12
1-59142713-T-C MYSM1 c.1275A>G p.Pro425Pro Synonymous 9/20 -
16-87878822-G-A SLC7A5 c.665-4061C>T - IntronicSNV - 2/9
2-201171191-C-G SPATS2L c.-73+308C>G - intron_variant - 1/12
11-6520164-T-A DNHD1 c.719T>A p.Val240Glu Missense 3/43 -
19-10765819-C-T ILF3 c.-91+656C>T - intron_variant - 1/17
2-61749690-C-T XPO1 c.301+56G>A - IntronicSNV - 4/24
6-31238234-G-A HLA-C c.648C>T p.His216His Synonymous 4/8 -
12-103248301-T-C PAH c.706+613A>G - IntronicSNV - 6/12
2-61749690-C-A XPO1 c.301+56G>T - IntronicSNV - 4/24
6-31731881-C-T SAPCD1 c.296C>T p.Pro99Leu Missense 3/5 -
3-48461313-C-T PLXNB1 c.2382G>A p.Pro794Pro Synonymous 11/38 -
11-68201295-C-T LRP5 c.3989C>T p.Ala1330Val Missense 18/23 -
2-219587291-A-G TTLL4 c.-177-4701A>G - intron_variant - 1/19
5-115568757-T-C COMMD10 c.511-58457T>C - IntronicSNV - 5/6
15-56532219-G-C RFX7 c.161+3104C>G - IntronicSNV - 2/9
2-3476234-T-A TRAPPC12 c.1777-5232T>A - IntronicSNV - 9/11
20-62320242-G-A RTEL1 c.1873-166G>A - IntronicSNV - 21/34
2-3476234-T-G TRAPPC12 c.1777-5232T>G - IntronicSNV - 9/11
20-47865784-C-T ZNFX1 c.3777G>A p.Met1259Ile Missense 14/14 -
2-152266473-T-C RIF1 c.-85T>C - 5_prime_UTR_variant 1/35 -
16-87878076-G-A SLC7A5 c.665-3315C>T - IntronicSNV - 2/9
16-87878076-G-C SLC7A5 c.665-3315C>G - IntronicSNV - 2/9
20-25433821-A-T NINL c.*266T>A - 3-UTRSNV 24/24 -
20-25433821-A-C NINL c.*266T>G - 3-UTRSNV 24/24 -
20-47865784-C-A ZNFX1 c.3777G>T p.Met1259Ile Missense 14/14 -
20-33590358-C-G TRPC4AP c.*591G>C - 3-UTRSNV 19/19 -
6-5260936-A-G LYRM4 c.31T>C p.Ser11Pro Missense 1/3 -
3-52566820-C-A NT5DC2 c.121+1729G>T - IntronicSNV - 1/13
4-39122697-C-T KLHL5 c.*11C>T - 3-UTRSNV 12/12 -
2-71633275-T-C ZNF638 c.3018T>C p.Ile1006Ile Synonymous 19/28 -
9-100696203-T-C HEMGN c.173+2250A>G - IntronicSNV - 2/3
6-29912451-C-T HLA-A c.1012+58C>T - IntronicSNV - 5/7
1-54320337-A-G YIPF1 c.*9-2394T>C - intron_variant - 10/10
10-46087283-A-G MARCH8 c.-79+2400T>C - intron_variant - 1/6
7-120969769-G-A WNT16 c.244G>A p.Gly82Arg Missense 2/4 -
7-120969769-G-T WNT16 c.244G>T p.Gly82Trp Missense 2/4 -
16-67708897-A-G GFOD2 c.*161T>C - 3-UTRSNV 3/3 -
4-74279655-G-A ALB c.1058+304G>A - IntronicSNV - 8/14
10-114781698-T-C TCF7L2 c.382-18086T>C - IntronicSNV - 3/13
2-219610433-A-G TTLL4 c.1806A>G p.Glu602Glu Synonymous 7/20 -
5-95273410-T-A ELL2 c.195+5296A>T - IntronicSNV - 2/11
15-62210504-G-A VPS13C c.7510-48C>T - IntronicSNV - 56/82
1-236175339-T-C NID1 c.2409A>G p.Val803Val Synonymous 12/20 -
15-62210504-G-T VPS13C c.7510-48C>A - IntronicSNV - 56/82
15-62210504-G-C VPS13C c.7510-48C>G - IntronicSNV - 56/82
21-44478497-C-T CBS c.1359-134G>A - IntronicSNV - 14/16
12-103257308-T-C PAH c.509+3066A>G - IntronicSNV - 5/12
6-30032495-A-G ZNRD1 c.*21A>G - 3-UTRSNV 5/5 -
8-145737514-G-A RECQL4 c.3236+13C>T - intron_variant - 19/21
12-6434349-C-A PLEKHG6 c.1525-1245C>A - IntronicSNV - 13/15
2-113978940-C-G PAX8 c.1190-1185G>C - IntronicSNV - 10/11
1-156713558-G-T HDGF c.602C>A p.Pro201His Missense 5/6 -
17-79577127-T-G NPLOC4 c.435+109A>C - IntronicSNV - 5/16
17-28511978-G-A NSRP1 c.963G>A p.Gln321Gln Synonymous 7/7 -
21-47685939-A-G MCM3AP c.2931T>C p.His977His Synonymous 11/28 -
5-36914179-C-T NIPBL c.-80+36899C>T - intron_variant - 1/45
10-114756041-A-G TCF7L2 c.382-43743A>G - IntronicSNV - 3/13
12-110026024-G-T MVK c.677+1420G>T - IntronicSNV - 7/10
16-28847149-G-C ATXN2L c.2895+70G>C - IntronicSNV - 21/21
1-117076547-G-T CD58 c.628+2040C>A - IntronicSNV - 3/5
2-99083892-A-G INPP4A c.-166+22344A>G - intron_variant - 1/25
19-18285944-G-A IFI30 c.227G>A p.Arg76Gln Missense 2/7 -
15-56524096-A-C RFX7 c.161+11227T>G - IntronicSNV - 2/9
6-76311718-C-T SENP6 c.1-523C>T - 5-UTRSNV 1/24 -
3-50307950-G-A SEMA3B c.327+24G>A - intron_variant - 5/18
1-214820099-A-G CENPF c.7186A>G p.Asn2396Asp Missense 13/20 -
11-27516785-C-G LIN7C c.*3411G>C - 3-UTRSNV 5/5 -
15-58246802-G-C ALDH1A2 c.*593C>G - 3-UTRSNV 14/14 -
22-21982892-C-T YDJC c.787G>A p.Ala263Thr Missense 5/5 -
1-64107893-G-A PGM1 c.1144+3422G>A - IntronicSNV - 7/10
12-56814653-G-A TIMELESS c.3053C>T p.Pro1018Leu Missense 25/29 -
15-89804111-G-A FANCI c.288+37G>A - IntronicSNV - 4/36
11-6519363-C-T DNHD1 c.1-83C>T - 5-UTRSNV 3/43 -
16-28603655-T-G SULT1A2 c.704A>C p.Asn235Thr Missense 7/8 -
11-63963947-T-G STIP1 c.672+662T>G - IntronicSNV - 5/13
5-56111751-G-T MAP3K1 c.351G>T p.Ala117Ala Synonymous 1/20 -
1-25674785-C-T TMEM50A c.207-3332C>T - IntronicSNV - 3/6
6-167437988-C-T FGFR1OP c.807-282C>T - IntronicSNV - 8/12
7-103603090-T-C RELN c.226+26488A>G - IntronicSNV - 1/64
6-71289189-A-G SDHAF4 c.137A>G p.Gln46Arg Missense 2/3 -
12-120565188-G-A GCN1 c.*465C>T - 3-UTRSNV 58/58 -
12-94092690-C-A CRADD c.298+19842C>A - IntronicSNV - 2/2
2-61729268-T-C XPO1 c.364-93A>G - IntronicSNV - 5/24
12-120189879-A-T CIT c.2754T>A p.Ala918Ala Synonymous 22/47 -
4-74314649-C-T AFP c.1059-403C>T - IntronicSNV - 8/14
6-30179422-G-A TRIM26 c.-376+1660C>T - intron_variant - 1/9
15-72169466-G-A MYO9A c.5931+915C>T - IntronicSNV - 31/41
7-1886535-G-C MAD1L1 c.1999-30671C>G - IntronicSNV - 18/18
7-103404815-G-A RELN c.545-11154C>T - IntronicSNV - 4/64
16-71965196-C-T PKD1L3 c.4921-1110G>A - intron_variant - 29/30
17-80191425-C-A SLC16A3 c.1-2460C>A - IntronicSNV - 1/4
7-105149122-T-G PUS7 c.1-163A>C - IntronicSNV 1/16 -
7-123376560-G-A WASL c.117+12112C>T - IntronicSNV - 1/10
1-156255456-G-A TMEM79 c.439G>A p.Val147Met Missense 2/4 -
1-204518842-C-A MDM4 c.*32C>A - 3-UTRSNV 11/11 -
1-204518842-C-G MDM4 c.*32C>G - 3-UTRSNV 11/11 -
18-67283041-A-T DOK6 c.289+16307A>T - IntronicSNV - 3/7
17-33921857-G-T AP2B1 c.37+771G>T - IntronicSNV - 2/21
1-180962282-A-G STX6 c.363+217T>C - IntronicSNV - 4/7
12-103248924-C-T PAH c.696G>A p.Gln232Gln Synonymous 6/13 -
17-80111026-T-A CCDC57 c.2241+4598A>T - IntronicSNV - 14/16
6-10981053-G-A ELOVL2 c.*2961C>T - 3-UTRSNV 8/8 -
5-37046626-A-G NIPBL c.6589+325A>G - IntronicSNV - 38/45
6-10995015-G-C ELOVL2 c.505+225C>G - IntronicSNV - 5/7
20-21142813-T-C KIZ c.707T>C p.Met236Thr Missense 5/14 -
2-161306828-G-T RBMS1 c.75+42972C>A - IntronicSNV - 1/13
20-33969530-C-T UQCC1 c.333+191G>A - IntronicSNV - 4/9
15-75312187-A-G SCAMP5 c.*863A>G - 3-UTRSNV 7/7 -
6-101183819-C-T ASCC3 c.1738-10240G>A - IntronicSNV - 10/41
14-32088281-A-G NUBPL c.382+19696A>G - IntronicSNV - 4/10
1-54696319-A-C SSBP3 c.868-1820T>G - IntronicSNV - 13/16
1-23347125-C-T KDM1A c.351+685C>T - IntronicSNV - 1/18
8-121602140-A-C SNTB1 c.997-14675T>G - IntronicSNV - 3/6
17-2262703-C-T SGSM2 c.134-2228C>T - IntronicSNV - 2/23
17-80151881-G-A CCDC57 c.753C>T p.Asp251Asp Synonymous 5/17 -
10-73772661-T-G CHST3 c.*4432T>G - 3-UTRSNV 3/3 -
21-34925689-G-A SON c.4152G>A p.Leu1384Leu Synonymous 3/12 -
19-48374538-T-C SULT2A1 c.*174A>G - 3-UTRSNV 6/6 -
6-17699322-G-T NUP153 c.111+7186C>A - IntronicSNV - 1/22
1-156197380-C-T PMF1-BGLAP c.162-4731C>T - IntronicSNV - 1/6
17-65874541-C-T BPTF c.2053+2681C>T - IntronicSNV - 5/29
1-95697529-A-C TMEM56-RWDD3 c.566+979A>C - IntronicSNV - 7/7
7-72904810-C-T BAZ1B c.694-1089G>A - IntronicSNV - 5/19
19-48374538-T-G SULT2A1 c.*174A>C - 3-UTRSNV 6/6 -
12-57070840-G-A PTGES3 c.3-3991C>T - IntronicSNV - 1/7
2-234054873-G-T INPP5D c.738G>T - synonymous_variant 8/28 -
7-123378471-C-A WASL c.117+10201G>T - IntronicSNV - 1/10
16-67969930-A-G PSMB10 c.319T>C p.Leu107Leu Synonymous 4/8 -
15-89866954-A-G POLG c.2157+92T>C - IntronicSNV - 12/22
16-67969930-A-T PSMB10 c.319T>A p.Leu107Ile Missense 4/8 -
8-52765791-T-C PCMTD1 c.308-7468A>G - IntronicSNV - 2/5
7-107560191-C-T DLD c.*487C>T - 3-UTRSNV 14/14 -
8-109228008-A-G EIF3E c.951+633T>C - IntronicSNV - 9/12
15-89836228-G-T FANCI c.2225G>T p.Cys742Phe Missense 22/37 -
15-89836228-G-C FANCI c.2225G>C p.Cys742Ser Missense 22/37 -
15-89836228-G-A FANCI c.2225G>A p.Cys742Tyr Missense 22/37 -
1-243608967-A-G SDCCAG8 c.1985+19107A>G - IntronicSNV - 16/17
5-131661156-T-C SLC22A4 c.825-1814T>C - IntronicSNV - 4/9
2-216294957-C-G FN1 c.685+481G>C - IntronicSNV - 5/43
8-144669164-G-A EEF1D c.1092-142C>T - IntronicSNV - 3/9
16-28837515-T-G ATXN2L c.466-46T>G - IntronicSNV - 4/21
11-78072476-T-C GAB2 c.75+56216A>G - IntronicSNV - 1/9
6-29912451-C-A HLA-A c.1012+58C>A - IntronicSNV - 5/7
17-64216644-G-A APOH c.604+28C>T - IntronicSNV - 5/7
11-17160148-A-G PIK3C2A c.1705-1976T>C - IntronicSNV - 8/32
1-162062568-G-A NOS1AP c.105+22496G>A - IntronicSNV - 1/9
16-28837515-T-C ATXN2L c.466-46T>C - IntronicSNV - 4/21
17-80109778-A-G CCDC57 c.2241+5846T>C - IntronicSNV - 14/16
19-18545341-A-T ISYNA1 c.*382T>A - 3-UTRSNV 11/11 -
20-25458096-A-G NINL c.2202-371T>C - IntronicSNV - 16/23
1-90336244-C-T LRRC8D c.-3+26903C>T - intron_variant - 2/2
19-18545341-A-C ISYNA1 c.*382T>G - 3-UTRSNV 11/11 -
19-18545341-A-G ISYNA1 c.*382T>C - 3-UTRSNV 11/11 -
7-138172471-A-G TRIM24 c.365-16564A>G - IntronicSNV - 1/18
1-145441620-T-G TXNIP c.*402T>G - 3-UTRSNV 8/8 -
3-52833219-G-C ITIH3 c.789+112G>C - IntronicSNV - 7/21
6-33669577-C-T UQCC2 c.139-380G>A - IntronicSNV - 1/3
15-62312840-A-C VPS13C c.496-103T>G - IntronicSNV - 6/82
15-68585218-G-T FEM1B c.*1638G>T - IntergenicSNV 2/2 -
1-211918244-T-A LPGAT1 c.*4997A>T - 3-UTRSNV 8/8 -
15-72559326-T-G PARP6 c.4-163A>C - IntronicSNV - 3/23
6-26184102-G-T HIST1H2BE c.79G>T p.Gly27Cys Missense 1/1 -
2-61753786-C-T XPO1 c.127-130G>A - IntronicSNV - 2/24
17-38189049-G-A MED24 c.823-34C>T - IntronicSNV - 8/25
4-1237968-T-C CTBP1 c.40+4736A>G - IntronicSNV - 1/8
9-33817617-T-C UBE2R2 c.1-139T>C - 5-UTRSNV 1/5 -
12-76476956-A-T NAP1L1 c.-21+1391T>A - intron_variant - 1/15
5-172196711-G-T DUSP1 c.600C>A p.Ile200Ile Synonymous 3/4 -
6-26184102-G-C HIST1H2BE c.79G>C p.Gly27Arg Missense 1/1 -
2-148756624-G-A ORC4 c.-18+22393C>T - intron_variant - 1/13
2-210880893-C-T RPE c.139-35C>T - IntronicSNV - 2/5
8-28751381-C-T HMBOX1 c.-58+2074C>T - intron_variant - 2/10
2-99225645-T-C UNC50 c.-5+456T>C - intron_variant - 1/5
19-10260869-T-C DNMT1 c.2218-225A>G - IntronicSNV - 23/39
2-42276921-C-T PKDCC c.639+943C>T - IntronicSNV - 1/6
5-110434261-T-G WDR36 c.460-159T>G - IntronicSNV - 3/22
2-11725049-T-C GREB1 c.902-238T>C - IntronicSNV - 7/32
17-20905084-C-A USP22 c.*1260G>T - 3-UTRSNV 13/13 -
17-20905084-C-G USP22 c.*1260G>C - 3-UTRSNV 13/13 -
15-58253106-T-A ALDH1A2 c.1347-64A>T - IntronicSNV - 12/13
17-80112599-G-A CCDC57 c.2241+3025C>T - IntronicSNV - 14/16
4-1291113-G-C MAEA c.69+7343G>C - IntronicSNV - 1/7
4-74312552-A-G AFP c.844-627A>G - IntronicSNV - 7/14
20-13134768-T-C SPTLC3 c.1398T>C p.Tyr466Tyr Synonymous 10/12 -
4-1718883-A-T TMEM129 c.*254T>A - 3-UTRSNV 3/3 -
7-103408286-C-T RELN c.544+8718G>A - IntronicSNV - 4/64
20-25276297-G-A PYGB c.2370G>A p.Gln790Gln Synonymous 19/20 -
8-17858297-G-C PCM1 c.4828-5475G>C - IntronicSNV - 29/38
5-95222277-C-A ELL2 c.*2298G>T - 3-UTRSNV 12/12 -
2-96850885-T-C STARD7 c.*1583A>G - 3-UTRSNV 8/8 -
1-145442254-G-C TXNIP c.*1035G>C - 3_prime_UTR_variant 8/8 -
17-61908556-C-G PSMC5 c.840C>G p.Leu280Leu Synonymous 8/12 -
1-8413839-A-G RERE c.*1308T>C - 3-UTRSNV 23/23 -
17-61908556-C-T PSMC5 c.840C>T p.Leu280Leu Synonymous 8/12 -
11-64012784-G-A PPP1R14B c.259-25C>T - IntronicSNV - 1/3
5-36887895-T-C NIPBL c.-80+10615T>C - intron_variant - 1/45
1-155880159-T-C RIT1 c.163+82A>G - IntronicSNV - 3/5
2-71566841-G-A ZNF638 c.-203+7836G>A - intron_variant - 1/27
1-2187085-T-G SKI c.969+25911T>G - IntronicSNV - 1/6
2-71566841-G-T ZNF638 c.-203+7836G>T - intron_variant - 1/27
2-71584485-G-A ZNF638 c.1379+1575G>A - IntronicSNV - 3/27
4-1694809-T-C SLBP c.*515A>G - 3-UTRSNV 8/8 -
3-120068022-C-G LRRC58 c.69G>C p.Val23Val Synonymous 1/4 -
12-122628219-T-C MLXIP c.*1860T>C - 3_prime_UTR_variant 17/17 -
8-94745386-G-T RBM12B c.*247C>A - 3-UTRSNV 3/3 -
1-234583618-C-T TARBP1 c.1961+608G>A - IntronicSNV - 11/29
7-2869985-T-C GNA12 c.309+13502A>G - IntronicSNV - 1/3
10-114812071-T-A TCF7L2 c.483+12186T>A - IntronicSNV - 4/13
3-65529435-G-A MAGI1 c.431-50129C>T - IntronicSNV - 2/22
7-75616105-G-C POR c.*306G>C - 3-UTRSNV 16/16 -
5-131721204-T-C SLC22A5 c.824+13T>C - IntronicSNV - 4/9
10-102265815-A-G SEC31B c.1026T>C p.His342His Synonymous 9/26 -
7-105149122-T-C PUS7 c.1-163A>G - IntronicSNV 1/16 -
11-27516785-C-A LIN7C c.*3411G>T - 3-UTRSNV 5/5 -
20-48568929-G-T RNF114 c.*251G>T - 3-UTRSNV 6/6 -
20-48568929-G-A RNF114 c.*251G>A - 3-UTRSNV 6/6 -
6-101134077-C-T ASCC3 c.2152-6449G>A - IntronicSNV - 13/41
12-56814653-G-C TIMELESS c.3053C>G p.Pro1018Arg Missense 25/29 -
17-56736598-G-A TEX14 c.1-7236C>T - IntronicSNV - 1/32
20-30725648-A-G TM9SF4 c.229+1672A>G - IntronicSNV - 3/17
17-64303793-C-T PRKCA c.205+1548C>T - IntronicSNV - 2/16
6-31106268-A-C PSORS1C1 c.43+32A>C - IntronicSNV - 4/5
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
2-96861159-C-G STARD7 c.419G>C p.Arg140Pro Missense 2/8 -
19-18543054-C-T SSBP4 c.704+30C>T - IntronicSNV - 10/17
3-52567617-A-G NT5DC2 c.121+932T>C - IntronicSNV - 1/13
2-96861159-C-T STARD7 c.419G>A p.Arg140His Missense 2/8 -
15-41572702-A-T CHP1 c.*1115A>T - 3-UTRSNV 7/7 -
16-30995669-T-A SETD1A c.*325T>A - 3-UTRSNV 19/19 -
11-63961242-G-A STIP1 c.220-419G>A - IntronicSNV - 2/13
15-41572702-A-G CHP1 c.*1115A>G - 3-UTRSNV 7/7 -
11-95995448-T-A MAML2 c.513+79099A>T - IntronicSNV - 1/4
16-11179873-A-G CLEC16A c.2116+24994A>G - IntronicSNV - 19/23
1-180953853-A-G STX6 c.651T>C p.Asn217Asn Synonymous 7/8 -
8-121568921-C-T SNTB1 c.1137-7723G>A - IntronicSNV - 4/6
1-93303603-T-G RPL5 c.705+413T>G - IntronicSNV - 6/7
11-68840160-A-G TPCN2 c.1127A>G p.Lys376Arg Missense 12/25 -
6-70490511-A-G LMBRD1 c.247-65T>C - IntronicSNV - 2/15
2-161306828-G-C RBMS1 c.75+42972C>G - IntronicSNV - 1/13
2-32447868-A-G SLC30A6 c.*2086A>G - 3-UTRSNV 15/15 -
2-61688727-T-C USP34 c.43+9058A>G - IntronicSNV - 1/79
3-120043836-C-T LRRC58 c.*6211G>A - 3-UTRSNV 4/4 -
1-150938571-G-A CERS2 c.*53C>T - 3-UTRSNV 11/11 -
20-47772264-A-T STAU1 c.206-1656T>A - IntronicSNV - 3/13
2-61688727-T-A USP34 c.43+9058A>T - IntronicSNV - 1/79
12-124491529-G-C ZNF664 c.-660-4399G>C - intron_variant - 3/4
10-114756041-A-T TCF7L2 c.382-43743A>T - IntronicSNV - 3/13
11-68240241-C-A PPP6R3 c.-263+11946C>A - intron_variant - 1/22
11-68240241-C-T PPP6R3 c.-263+11946C>T - intron_variant - 1/22
1-169511755-T-C F5 c.2573A>G p.Lys858Arg Missense 13/25 -
12-46321514-A-T SCAF11 c.1970T>A p.Phe657Tyr Missense 11/15 -
12-123731423-A-T C12orf65 c.1-6799A>T - IntronicSNV - 1/2
12-123731423-A-G C12orf65 c.1-6799A>G - IntronicSNV - 1/2
15-65734856-G-T DPP8 c.*4366C>A - IntergenicSNV 18/18 -
11-6519363-C-G DNHD1 c.1-83C>G - 5-UTRSNV 3/43 -
11-6519363-C-A DNHD1 c.1-83C>A - 5-UTRSNV 3/43 -
5-137851192-C-T ETF1 c.403-1797G>A - IntronicSNV - 4/10
15-65734856-G-C DPP8 c.*4366C>G - IntergenicSNV 18/18 -
12-66359752-C-A HMGA2 c.*2680C>A - 3-UTRSNV 5/5 -
15-59222464-G-A SLTM c.250+2091C>T - IntronicSNV - 2/20
15-59222464-G-C SLTM c.250+2091C>G - IntronicSNV - 2/20
2-105910513-G-A TGFBRAP1 c.1038+2300C>T - IntronicSNV - 4/11
5-95241222-T-C ELL2 c.741+1005A>G - IntronicSNV - 5/11
3-38443312-T-C XYLB c.1533+836T>C - IntronicSNV - 18/18
19-18571141-A-G ELL c.744+1247T>C - IntronicSNV - 5/11
3-120068022-C-A LRRC58 c.69G>T p.Val23Val Synonymous 1/4 -
1-61620496-A-G NFIA c.559+66144A>G - IntronicSNV - 2/9
7-105149707-A-G PUS7 c.1-748T>C - IntronicSNV - 1/15
2-99225168-C-G UNC50 c.-26C>G - 5_prime_UTR_variant 1/6 -
19-18546678-T-C ISYNA1 c.1029A>G p.Leu343Leu Synonymous 8/11 -
7-106733276-T-C PRKAR2B c.343+22515T>C - IntronicSNV - 2/10
2-99225168-C-T UNC50 c.-26C>T - 5_prime_UTR_variant 1/6 -
20-32667298-T-C RALY c.*5-418T>C - intron_variant - 8/8
7-150930363-C-T CHPF2 c.1-735C>T - 5-UTRSNV 1/4 -
1-182993960-T-C LAMC1 c.418+691T>C - IntronicSNV - 1/27
1-11860458-C-T MTHFR c.476-79G>A - IntronicSNV - 3/11
1-183113862-C-T LAMC1 c.*1937C>T - 3-UTRSNV 28/28 -
2-44701901-T-G CAMKMT c.376+84457T>G - IntronicSNV - 3/10
1-162304276-A-G NOS1AP c.453+1361A>G - IntronicSNV - 5/9
7-1886388-C-G MAD1L1 c.1999-30524G>C - IntronicSNV - 18/18
17-53034628-T-G TOM1L1 c.1371-3299T>G - IntronicSNV - 14/15
12-123742061-G-A C12orf65 c.*483G>A - 3-UTRSNV 3/3 -
16-68189340-G-A NFATC3 c.1402-2432G>A - IntronicSNV - 3/10
16-270288-C-A LUC7L c.255+360G>T - IntronicSNV - 3/9
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
5-137851192-C-A ETF1 c.403-1797G>T - IntronicSNV - 4/10
5-137851192-C-G ETF1 c.403-1797G>C - IntronicSNV - 4/10
2-99172244-A-G INPP4A c.1720+90A>G - IntronicSNV - 17/25
8-116597409-T-G TRPS1 c.2700+1819A>C - IntronicSNV - 5/6
18-34401806-G-A TPGS2 c.86-2870C>T - IntronicSNV - 1/6
17-80053590-G-A FASN c.128-242C>T - IntronicSNV - 2/42
5-95234350-A-G ELL2 c.1119T>C p.Pro373Pro Synonymous 8/12 -
2-99172244-A-T INPP4A c.1720+90A>T - IntronicSNV - 17/25
6-31380198-C-T MICA c.989C>T p.Pro330Leu Missense 5/6 -