| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-20304785-C-T | PLA2G2A | c.185+88G>A | - | IntronicSNV | - | 4/5 |
| 5-37012018-G-A | NIPBL | c.4560+1691G>A | - | IntronicSNV | - | 21/45 |
| 1-226555348-G-T | PARP1 | c.2278-39C>A | - | IntronicSNV | - | 16/22 |
| 1-169551535-T-C | F5 | c.250+134A>G | - | IntronicSNV | - | 2/24 |
| 1-50943370-C-A | FAF1 | c.1654-2019G>T | - | IntronicSNV | - | 17/18 |
| 7-92345357-G-A | CDK6 | c.537+9583C>T | - | IntronicSNV | - | 4/7 |
| 1-66801495-A-G | PDE4B | c.747+3192A>G | - | IntronicSNV | - | 8/16 |
| 17-9814202-C-T | GAS7 | c.*6343G>A | - | 3-UTRSNV | 10/10 | - |
| 7-81358266-C-G | HGF | c.1040+655G>C | - | IntronicSNV | - | 8/17 |
| 10-108544601-C-T | SORCS1 | c.727-8151G>A | - | IntronicSNV | - | 3/25 |
| 1-169519049-T-C | F5 | c.1601A>G | p.Gln534Arg | Missense | 10/25 | - |
| 1-169486946-T-C | F5 | c.6345+704A>G | - | IntronicSNV | - | 23/24 |
| 1-169486946-T-A | F5 | c.6345+704A>T | - | IntronicSNV | - | 23/24 |
| 1-20418096-T-C | PLA2G5 | c.*911T>C | - | 3-UTRSNV | 5/5 | - |
| 17-42164885-G-A | HDAC5 | c.1782C>T | p.Asp594Asp | Synonymous | 13/27 | - |
| 5-506051-A-C | SLC9A3 | c.212-13865T>G | - | IntronicSNV | - | 1/16 |
| 5-506051-A-G | SLC9A3 | c.212-13865T>C | - | IntronicSNV | - | 1/16 |
| 12-25006665-A-T | BCAT1 | c.511-3782T>A | - | IntronicSNV | - | 5/10 |
| 12-25006665-A-G | BCAT1 | c.511-3782T>C | - | IntronicSNV | - | 5/10 |
| 4-25673557-C-T | SLC34A2 | c.1048+214C>T | - | IntronicSNV | - | 9/12 |
| 16-938967-A-G | LMF1 | c.729+4040T>C | - | IntronicSNV | - | 5/10 |
| 5-131410879-T-C | CSF2 | c.327+251T>C | - | IntronicSNV | - | 3/3 |
| 2-46559238-A-C | EPAS1 | c.27-14774A>C | - | IntronicSNV | - | 1/15 |
| 19-47939843-A-G | SLC8A2 | c.2110+876T>C | - | IntronicSNV | - | 8/9 |
| 2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
| 10-84033265-A-G | NRG3 | c.824-85230A>G | - | IntronicSNV | - | 1/8 |
| 6-161145246-A-C | PLG | c.1256+1647A>C | - | IntronicSNV | - | 10/18 |
| 19-50001385-T-C | RPS11 | c.353+82T>C | - | IntronicSNV | - | 4/4 |
| 17-76353793-A-G | SOCS3 | c.*706T>C | - | 3-UTRSNV | 2/2 | - |
| 12-51189619-T-C | ATF1 | c.94-73T>C | - | IntronicSNV | - | 2/6 |
| 8-142367246-G-C | GPR20 | c.778C>G | p.Arg260Gly | Missense | 2/2 | - |
| 8-142367246-G-A | GPR20 | c.778C>T | p.Arg260Cys | Missense | 2/2 | - |
| 8-73928452-C-T | TERF1 | c.415+2227C>T | - | IntronicSNV | - | 2/9 |
| 2-211513685-C-A | CPS1 | c.3404+421C>A | - | intron_variant | - | 28/38 |
| 3-71055582-A-C | FOXP1 | c.975-5372T>G | - | IntronicSNV | - | 12/20 |
| 1-237404593-C-T | RYR2 | c.49-29204C>T | - | IntronicSNV | - | 1/104 |
| 1-237404593-C-A | RYR2 | c.49-29204C>A | - | IntronicSNV | - | 1/104 |
| 2-162916413-G-T | DPP4 | c.95-12402C>A | - | IntronicSNV | - | 2/25 |
| 11-41046172-C-A | LRRC4C | c.-326-376344G>T | - | intron_variant | - | 1/4 |
| 12-25082263-G-T | BCAT1 | c.6+19598C>A | - | IntronicSNV | - | 1/10 |
| 1-169500178-G-C | F5 | c.5054C>G | p.Thr1685Ser | Missense | 15/25 | - |
| 12-2178661-C-T | CACNA1C | c.49+15884C>T | - | IntronicSNV | - | 1/46 |
| 19-49459685-G-T | BAX | c.222+95G>T | - | IntronicSNV | - | 3/4 |
| 19-49459685-G-A | BAX | c.222+95G>A | - | IntronicSNV | - | 3/4 |
| 7-55247442-A-T | EGFR | c.2284-1544A>T | - | IntronicSNV | - | 19/27 |
| 6-32147761-T-A | RNF5 | c.328-25T>A | - | IntronicSNV | - | 4/5 |
| 22-46608235-T-C | PPARA | c.209-2835T>C | - | IntronicSNV | - | 3/7 |
| 22-46630634-G-C | PPARA | c.1160-396G>C | - | IntronicSNV | - | 7/7 |
| 6-31707730-T-C | MSH5 | c.-281T>C | - | 5_prime_UTR_variant | 1/25 | - |
| 15-51514572-G-T | CYP19A1 | c.602C>A | p.Thr201Lys | Missense | 5/10 | - |
| 15-51514572-G-A | CYP19A1 | c.602C>T | p.Thr201Met | Missense | 5/10 | - |
| 18-60819383-T-G | BCL2 | c.586-23391A>C | - | IntronicSNV | - | 2/2 |
| 2-162916413-G-C | DPP4 | c.95-12402C>G | - | IntronicSNV | - | 2/25 |
| 6-151258311-G-A | MTHFD1L | c.1393+235G>A | - | IntronicSNV | - | 12/27 |
| 2-66716592-C-T | MEIS1 | c.743-22689C>T | - | IntronicSNV | - | 7/12 |
| 17-7530504-G-A | SAT2 | c.159C>T | p.His53His | Synonymous | 3/6 | - |
| 3-195796574-A-T | TFRC | c.688-135T>A | - | IntronicSNV | - | 6/18 |
| 2-46610409-C-G | EPAS1 | c.2461+672C>G | - | IntronicSNV | - | 15/15 |
| 17-7396267-T-C | POLR2A | c.94-2993T>C | - | IntronicSNV | - | 1/28 |
| 2-44101884-T-C | ABCG8 | c.1488+262T>C | - | IntronicSNV | - | 10/12 |
| 6-5546901-C-T | FARS2 | c.1065+1328C>T | - | IntronicSNV | - | 5/6 |
| 9-78742354-G-A | PCSK5 | c.1209-6671G>A | - | IntronicSNV | - | 9/36 |
| 10-84267722-T-G | NRG3 | c.953+149098T>G | - | IntronicSNV | - | 2/8 |
| 6-152151965-G-A | ESR1 | c.453-11767G>A | - | IntronicSNV | - | 1/7 |
| 17-40271757-G-A | KAT2A | c.700-21C>T | - | IntronicSNV | - | 4/17 |
| 21-27424038-T-C | APP | c.469-529A>G | - | IntronicSNV | - | 4/17 |
| 1-237256977-T-A | RYR2 | c.48+51108T>A | - | IntronicSNV | - | 1/104 |
| 6-21104159-G-T | CDKAL1 | c.1237-4473G>T | - | IntronicSNV | - | 12/15 |
| 5-90252688-A-T | ADGRV1 | c.17857-8544A>T | - | IntronicSNV | - | 83/89 |
| 17-9952612-T-C | GAS7 | c.184-29398A>G | - | IntronicSNV | - | 1/13 |
| 1-50943370-C-G | FAF1 | c.1654-2019G>C | - | IntronicSNV | - | 17/18 |
| 4-120240181-C-T | FABP2 | c.*15G>A | - | 3-UTRSNV | 4/4 | - |
| 1-226555348-G-A | PARP1 | c.2278-39C>T | - | IntronicSNV | - | 16/22 |
| 2-188369372-G-A | TFPI | c.1-877C>T | - | IntronicSNV | - | 1/7 |
| 16-20796387-G-C | ACSM3 | c.1101G>C | p.Lys367Asn | Missense | 8/14 | - |
| 15-91290366-G-T | BLM | c.1-257G>T | - | IntronicSNV | - | 1/21 |
| 13-110426000-G-A | IRS2 | c.4012+8389C>T | - | IntronicSNV | - | 1/1 |
| 5-90385098-G-C | ADGRV1 | c.18311-12938G>C | - | IntronicSNV | - | 86/89 |
| 10-74666065-G-A | OIT3 | c.545-289G>A | - | IntronicSNV | - | 3/8 |
| 3-30876725-T-C | GADL1 | c.904-952A>G | - | IntronicSNV | - | 9/14 |
| 12-86276347-G-A | NTS | c.*194G>A | - | 3-UTRSNV | 4/4 | - |
| 2-234073243-C-T | INPP5D | c.1474+173C>T | - | intron_variant | - | 14/27 |
| 10-90981650-T-A | LIPA | c.894+618A>T | - | IntronicSNV | - | 8/9 |
| 3-38665202-G-T | SCN5A | c.393-1222C>A | - | IntronicSNV | - | 3/27 |
| 4-142594719-T-A | IL15 | c.-501-15256T>A | - | intron_variant | - | 2/9 |
| 4-142594719-T-C | IL15 | c.-501-15256T>C | - | intron_variant | - | 2/9 |
| 3-38665202-G-C | SCN5A | c.393-1222C>G | - | IntronicSNV | - | 3/27 |
| 3-10219729-A-G | IRAK2 | c.277+25A>G | - | IntronicSNV | - | 2/12 |
| 17-42064987-A-C | PYY | c.-463+16772T>G | - | intron_variant | - | 1/6 |
| 10-135352490-C-T | CYP2E1 | c.*22C>T | - | 3-UTRSNV | 9/9 | - |
| 17-9814202-C-G | GAS7 | c.*6343G>C | - | 3-UTRSNV | 10/10 | - |
| 15-48862043-G-A | FBN1 | c.538+26437C>T | - | IntronicSNV | - | 6/65 |
| 1-53532535-G-C | PODN | c.-55-2938G>C | - | intron_variant | - | 1/10 |
| 18-60950919-C-T | BCL2 | c.585+34396G>A | - | IntronicSNV | - | 2/2 |
| 5-90385098-G-A | ADGRV1 | c.18311-12938G>A | - | IntronicSNV | - | 86/89 |
| 6-6319535-A-G | F13A1 | c.1-638T>C | - | IntronicSNV | - | 1/14 |
| 2-190023960-A-G | COL5A2 | c.97+20274T>C | - | IntronicSNV | - | 1/53 |
| 3-10195172-T-G | VHL | c.*3523T>G | - | 3-UTRSNV | 3/3 | - |
| 3-10195172-T-A | VHL | c.*3523T>A | - | 3-UTRSNV | 3/3 | - |
| 8-97597672-C-A | SDC2 | c.61-8036C>A | - | IntronicSNV | - | 1/4 |
| 8-97597672-C-G | SDC2 | c.61-8036C>G | - | IntronicSNV | - | 1/4 |
| 8-97597672-C-T | SDC2 | c.61-8036C>T | - | IntronicSNV | - | 1/4 |
| 2-88423621-C-T | FABP1 | c.333+392G>A | - | IntronicSNV | - | 3/3 |
| 16-938967-A-T | LMF1 | c.729+4040T>A | - | IntronicSNV | - | 5/10 |
| 2-202264156-C-T | TRAK2 | c.424G>A | p.Val142Ile | Missense | 5/16 | - |
| 7-114254728-G-A | FOXP2 | c.259-13867G>A | - | IntronicSNV | - | 3/16 |
| 8-12974607-A-C | DLC1 | c.38-1441T>G | - | IntronicSNV | - | 1/13 |
| 21-27438501-C-T | APP | c.356-12837G>A | - | IntronicSNV | - | 3/17 |
| 21-27438501-C-G | APP | c.356-12837G>C | - | IntronicSNV | - | 3/17 |
| 10-84420273-T-C | NRG3 | c.954-78060T>C | - | IntronicSNV | - | 2/8 |
| 7-151431568-G-C | PRKAG2 | c.466+46670C>G | - | IntronicSNV | - | 3/15 |
| 1-162272371-C-G | NOS1AP | c.344+1875C>G | - | IntronicSNV | - | 4/9 |
| 12-49399132-G-C | PRKAG1 | c.266C>G | p.Thr89Ser | Missense | 5/12 | - |
| 6-46609905-C-T | CYP39A1 | c.308G>A | p.Arg103His | Missense | 2/12 | - |
| 7-151431568-G-A | PRKAG2 | c.466+46670C>T | - | IntronicSNV | - | 3/15 |
| 1-66786000-T-C | PDE4B | c.635-12191T>C | - | IntronicSNV | - | 7/16 |
| 1-156092991-T-C | LMNA | c.357-7417T>C | - | IntronicSNV | - | 1/11 |
| 12-25073685-T-C | BCAT1 | c.7-18866A>G | - | IntronicSNV | - | 1/10 |
| 2-28634790-G-A | FOSL2 | c.463-7G>A | - | IntronicSNV | - | 3/3 |
| 6-46609905-C-A | CYP39A1 | c.308G>T | p.Arg103Leu | Missense | 2/12 | - |
| 5-90228398-T-C | ADGRV1 | c.17857-32834T>C | - | IntronicSNV | - | 83/89 |
| 6-151358299-T-C | MTHFD1L | c.2847+46T>C | - | IntronicSNV | - | 26/27 |
| 15-101927073-G-A | PCSK6 | c.1308-2443C>T | - | intron_variant | - | 10/22 |
| 4-100504575-G-T | MTTP | c.294G>T | p.Glu98Asp | Missense | 4/19 | - |
| 8-42186491-G-A | IKBKB | c.2109-151G>A | - | IntronicSNV | - | 19/20 |
| 6-32147761-T-C | RNF5 | c.328-25T>C | - | IntronicSNV | - | 4/5 |
| 1-247603463-G-A | NLRP3 | c.2670-3811G>A | - | IntronicSNV | - | 6/8 |
| 6-152378112-C-T | ESR1 | c.1236-4014C>T | - | IntronicSNV | - | 5/7 |
| 10-75768180-A-G | VCL | c.168+10047A>G | - | IntronicSNV | - | 1/20 |
| 5-127761418-A-G | FBN2 | c.953-16926T>C | - | IntronicSNV | - | 7/64 |
| 7-22769773-G-C | IL6 | c.471+494G>C | - | IntronicSNV | - | 4/4 |
| 13-32894484-G-A | BRCA2 | c.316+1022G>A | - | IntronicSNV | - | 3/26 |
| 2-234073645-G-A | INPP5D | c.1474+575G>A | - | intron_variant | - | 14/27 |
| 11-102643718-G-T | MMP10 | c.1086C>A | p.Ile362Ile | Synonymous | 8/10 | - |
| 3-10330243-A-T | GHRL | c.225+1203T>A | - | IntronicSNV | - | 4/5 |
| 3-10330243-A-G | GHRL | c.225+1203T>C | - | IntronicSNV | - | 4/5 |
| 5-80871402-C-A | SSBP2 | c.282+39890G>T | - | IntronicSNV | - | 4/16 |
| 3-50289853-C-T | GNAI2 | c.186C>T | p.Ser62Ser | Synonymous | 3/9 | - |
| 3-8786572-C-T | CAV3 | c.115-640C>T | - | IntronicSNV | - | 1/1 |
| 19-45395619-A-G | TOMM40 | c.275-31A>G | - | IntronicSNV | - | 2/9 |
| 7-73026378-C-T | MLXIPL | c.400+4023G>A | - | IntronicSNV | - | 2/16 |
| 7-73026378-C-A | MLXIPL | c.400+4023G>T | - | IntronicSNV | - | 2/16 |
| 4-100504575-G-C | MTTP | c.294G>C | p.Glu98Asp | Missense | 4/19 | - |
| 5-90066246-T-C | ADGRV1 | c.12286-3757T>C | - | IntronicSNV | - | 59/89 |
| 2-211499404-G-T | CPS1 | c.2688-3022G>T | - | intron_variant | - | 22/38 |
| 18-60960310-C-T | BCL2 | c.585+25005G>A | - | IntronicSNV | - | 2/2 |
| 2-9631340-T-C | ADAM17 | c.2083-60A>G | - | IntronicSNV | - | 17/18 |
| 8-89216480-G-A | MMP16 | c.133-6945C>T | - | IntronicSNV | - | 1/9 |
| 22-46630634-G-T | PPARA | c.1160-396G>T | - | IntronicSNV | - | 7/7 |
| 18-60820299-G-T | BCL2 | c.586-24307C>A | - | IntronicSNV | - | 2/2 |
| 21-27520773-G-C | APP | c.57+22109C>G | - | IntronicSNV | - | 1/17 |
| 6-31525912-C-T | NFKBIL1 | c.670C>T | p.Arg224Cys | Missense | 4/4 | - |
| 22-24121378-C-T | MMP11 | c.113C>T | p.Ala38Val | Missense | 2/8 | - |
| 8-11614305-A-T | GATA4 | c.998-139A>T | - | IntronicSNV | - | 5/6 |
| 1-94469573-G-T | ABCA4 | c.6147+1424C>A | - | IntronicSNV | - | 44/49 |
| 2-88423510-A-G | FABP1 | c.333+503T>C | - | IntronicSNV | - | 3/3 |
| 2-88423510-A-T | FABP1 | c.333+503T>A | - | IntronicSNV | - | 3/3 |
| 2-44043114-A-C | ABCG5 | c.1650-1386T>G | - | IntronicSNV | - | 11/12 |
| 1-92163786-G-T | TGFBR3 | c.2288-99C>A | - | IntronicSNV | - | 14/16 |
| 2-152346979-T-C | NEB | c.19636A>G | p.Ile6546Val | Missense | 148/150 | - |
| 3-10278696-C-T | IRAK2 | c.1474-1736C>T | - | IntronicSNV | - | 11/12 |
| 8-11614305-A-C | GATA4 | c.998-139A>C | - | IntronicSNV | - | 5/6 |
| 4-37896685-T-C | TBC1D1 | c.-94+3716T>C | - | intron_variant | - | 1/19 |
| 6-152422335-C-T | ESR1 | c.*2234C>T | - | 3-UTRSNV | 8/8 | - |
| 6-107508270-T-C | PDSS2 | c.1041+6756A>G | - | IntronicSNV | - | 7/7 |
| 11-67164495-C-T | RAD9A | c.873-155C>T | - | IntronicSNV | - | 9/10 |
| 17-57989860-G-A | RPS6KB1 | c.192-185G>A | - | IntronicSNV | - | 2/14 |
| 6-43653405-C-T | MRPS18A | c.112+2000G>A | - | IntronicSNV | - | 1/5 |
| 12-48188898-C-T | HDAC7 | c.1173+69G>A | - | IntronicSNV | - | 10/24 |
| 1-186850920-T-C | PLA2G4A | c.116-11223T>C | - | IntronicSNV | - | 3/17 |
| 10-121196335-G-C | GRK5 | c.911G>C | p.Arg304Pro | Missense | 9/16 | - |
| 10-121196335-G-A | GRK5 | c.911G>A | p.Arg304His | Missense | 9/16 | - |
| 8-126024143-T-G | SQLE | c.1204+269T>G | - | IntronicSNV | - | 7/10 |
| 13-110407646-T-C | IRS2 | c.*1005A>G | - | 3-UTRSNV | 2/2 | - |
| 7-150752982-C-G | CDK5 | c.313-289G>C | - | IntronicSNV | - | 5/10 |
| 11-1874404-C-T | LSP1 | c.30C>T | p.Ala10Ala | Synonymous | 1/11 | - |
| 8-89075226-C-T | MMP16 | c.1223-6720G>A | - | IntronicSNV | - | 7/9 |
| 19-46276056-C-A | DMPK | c.1233-46G>T | - | IntronicSNV | - | 9/14 |
| 11-68597220-G-C | CPT1A | c.-14+12023C>G | - | intron_variant | - | 1/18 |
| 17-10006276-G-A | GAS7 | c.184-83062C>T | - | IntronicSNV | - | 1/13 |
| 20-44645153-T-C | MMP9 | c.*146T>C | - | 3-UTRSNV | 13/13 | - |
| 6-30658239-C-A | NRM | c.134-219G>T | - | IntronicSNV | - | 1/3 |
| 9-21970916-C-T | CDKN2A | c.442G>A | p.Ala148Thr | Missense | 2/3 | - |
| 9-21970916-C-A | CDKN2A | c.442G>T | p.Ala148Ser | Missense | 2/3 | - |
| 9-21970916-C-G | CDKN2A | c.442G>C | p.Ala148Pro | Missense | 2/3 | - |
| 12-57548466-C-T | LRP1 | c.1209C>T | p.Thr403Thr | Synonymous | 8/89 | - |
| 7-81375087-T-A | HGF | c.626-651A>T | - | IntronicSNV | - | 5/17 |
| 8-10072350-A-G | MSRA | c.211+6939A>G | - | IntronicSNV | - | 2/5 |
| 1-101192142-A-G | VCAM1 | c.928+1696A>G | - | IntronicSNV | - | 4/8 |
| 19-15270636-C-T | NOTCH3 | c.*837G>A | - | 3-UTRSNV | 33/33 | - |
| 17-42164885-G-C | HDAC5 | c.1782C>G | p.Asp594Glu | Missense | 13/27 | - |
| 8-141838360-G-A | PTK2 | c.714+2211C>T | - | IntronicSNV | - | 8/31 |
| 12-122693602-T-G | DIABLO | c.524-478A>C | - | IntronicSNV | - | 6/6 |
| 1-12255748-G-C | TNFRSF1B | c.900+1073G>C | - | IntronicSNV | - | 8/9 |
| 12-48182241-A-C | HDAC7 | c.2125-294T>G | - | IntronicSNV | - | 18/24 |
| 15-91290366-G-C | BLM | c.1-257G>C | - | IntronicSNV | - | 1/21 |
| 1-92234553-T-C | TGFBR3 | c.247-10246A>G | - | IntronicSNV | - | 3/16 |
| 18-60943959-A-G | BCL2 | c.585+41356T>C | - | IntronicSNV | - | 2/2 |
| 21-43716022-G-A | ABCG1 | c.1806-252G>A | - | IntronicSNV | - | 14/14 |
| 5-101587374-T-G | SLCO4C1 | c.1470-1882A>C | - | IntronicSNV | - | 8/12 |
| 15-36950565-G-A | C15orf41 | c.52+459G>A | - | IntronicSNV | - | 6/11 |
| 19-6686421-C-T | C3 | c.3647-123G>A | - | IntronicSNV | - | 28/40 |
| 12-53619464-G-T | RARG | c.184+1682C>A | - | IntronicSNV | - | 3/9 |
| 7-45957678-T-C | IGFBP3 | c.422-640A>G | - | IntronicSNV | - | 1/4 |
| 14-20876189-G-A | TEP1 | c.410C>T | p.Thr137Met | Missense | 2/55 | - |
| 17-42193897-C-T | HDAC5 | c.22+965G>A | - | IntronicSNV | - | 2/26 |
| 9-131583170-T-G | ENDOG | c.611+43T>G | - | IntronicSNV | - | 2/2 |
| 9-131583170-T-C | ENDOG | c.611+43T>C | - | IntronicSNV | - | 2/2 |
| 2-27730940-T-C | GCKR | c.1337T>C | p.Leu446Pro | Missense | 15/19 | - |
| 17-42338998-T-G | SLC4A1 | c.113A>C | p.Asp38Ala | Missense | 4/20 | - |
| 16-50733374-G-T | NOD2 | c.74-25G>T | - | IntronicSNV | - | 1/11 |
| 16-50733374-G-A | NOD2 | c.74-25G>A | - | IntronicSNV | - | 1/11 |
| 1-150831088-C-G | ARNT | c.26-152G>C | - | IntronicSNV | - | 1/20 |
| 14-64887711-G-A | MTHFD1 | c.727+1068G>A | - | IntronicSNV | - | 8/27 |
| 20-50040086-A-G | NFATC2 | c.2722+8518T>C | - | IntronicSNV | - | 9/10 |
| 2-66797316-T-C | MEIS1 | c.*1076T>C | - | IntronicSNV | - | 12/12 |
| 9-131583170-T-A | ENDOG | c.611+43T>A | - | IntronicSNV | - | 2/2 |
| 17-42338998-T-A | SLC4A1 | c.113A>T | p.Asp38Val | Missense | 4/20 | - |
| 14-94852423-A-T | SERPINA1 | c.1-2849T>A | - | IntronicSNV | - | 1/4 |
| 13-41223886-C-T | FOXO1 | c.630+15834G>A | - | IntronicSNV | - | 1/2 |
| 9-35677245-A-G | CA9 | c.841-542A>G | - | IntronicSNV | - | 5/10 |
| 17-64210580-A-G | APOH | c.973T>C | p.Cys325Arg | Missense | 7/8 | - |
| 17-64210580-A-C | APOH | c.973T>G | p.Cys325Gly | Missense | 7/8 | - |
| 10-135352490-C-A | CYP2E1 | c.*22C>A | - | 3-UTRSNV | 9/9 | - |
| 10-135352490-C-G | CYP2E1 | c.*22C>G | - | 3-UTRSNV | 9/9 | - |
| 19-54306818-T-C | NLRP12 | c.2585+388A>G | - | IntronicSNV | - | 6/9 |
| 20-36952342-C-T | BPI | c.827C>T | - | missense_variant | 8/15 | - |
| 4-25275849-T-C | PI4K2B | c.1273-2787T>C | - | IntronicSNV | - | 9/9 |
| 1-19996232-C-T | HTR6 | c.714+3272C>T | - | IntronicSNV | - | 1/2 |
| 16-66973381-G-A | CES2 | c.423+120G>A | - | intron_variant | - | 3/11 |
| 18-60814252-T-A | BCL2 | c.586-18260A>T | - | IntronicSNV | - | 2/2 |
| 13-95784156-A-G | ABCC4 | c.2456-15901T>C | - | IntronicSNV | - | 19/30 |
| 9-74973471-G-A | ZFAND5 | c.367+863C>T | - | IntronicSNV | - | 5/6 |
| 10-44866275-T-A | CXCL12 | c.*2501A>T | - | 3-UTRSNV | 4/4 | - |
| 2-28634790-G-C | FOSL2 | c.463-7G>C | - | IntronicSNV | - | 3/3 |
| 2-28634790-G-T | FOSL2 | c.463-7G>T | - | IntronicSNV | - | 3/3 |
| 3-71480210-G-T | FOXP1 | c.-168+62367C>A | - | intron_variant | - | 3/20 |
| 15-59964904-C-T | BNIP2 | c.507G>A | - | synonymous_variant | 6/10 | - |
| 12-2178545-A-G | CACNA1C | c.49+15768A>G | - | IntronicSNV | - | 1/46 |
| 15-73637772-C-T | HCN4 | c.786-1623G>A | - | IntronicSNV | - | 1/7 |
| 18-60944538-T-C | BCL2 | c.585+40777A>G | - | IntronicSNV | - | 2/2 |
| 12-57578673-G-A | LRP1 | c.6238G>A | p.Asp2080Asn | Missense | 39/89 | - |
| 11-60613357-C-T | CCDC86 | c.759-2040C>T | - | IntronicSNV | - | 1/3 |