| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 1-89429149-T-C | KYAT3 | c.454-1321A>G | - | IntronicSNV | - | 5/13 |
| 2-20888419-C-T | LDAH | c.787-1565G>A | - | IntronicSNV | - | 6/6 |
| 10-70060213-A-C | PBLD | c.85-3471T>G | - | IntronicSNV | - | 2/9 |
| 16-23475140-T-C | GGA2 | c.*3771A>G | - | 3-UTRSNV | 17/17 | - |
| 17-903819-G-A | TIMM22 | c.509-433G>A | - | IntronicSNV | - | 3/3 |
| 6-107085978-G-A | QRSL1 | c.25-2246G>A | - | IntronicSNV | - | 1/10 |
| 11-94858419-A-C | ENDOD1 | c.301-3122A>C | - | IntronicSNV | - | 1/1 |
| 6-125611254-A-G | HDDC2 | c.378+2733T>C | - | IntronicSNV | - | 4/5 |
| 17-76775673-G-T | CYTH1 | c.22+2611C>A | - | IntronicSNV | - | 1/12 |
| 17-61883023-A-G | DDX42 | c.726+488A>G | - | IntronicSNV | - | 8/18 |
| 1-205689807-T-G | NUCKS1 | c.230-26A>C | - | IntronicSNV | - | 4/6 |
| 2-75882855-A-C | MRPL19 | c.*444A>C | - | 3-UTRSNV | 6/6 | - |
| 21-30330451-G-A | LTN1 | c.2747+257C>T | - | intron_variant | - | 14/29 |
| 10-131232540-G-A | MGMT | c.1-32940G>A | - | IntergenicSNV | - | 1/4 |
| 11-838110-C-T | CD151 | c.703-23C>T | - | IntronicSNV | - | 8/8 |
| 12-66557817-T-G | TMBIM4 | c.97+5818A>C | - | IntronicSNV | - | 1/6 |
| 3-122460470-G-C | HSPBAP1 | c.826-510C>G | - | IntronicSNV | - | 6/7 |
| 11-838110-C-G | CD151 | c.703-23C>G | - | IntronicSNV | - | 8/8 |
| 8-28825422-C-G | HMBOX1 | c.24-2138C>G | - | IntronicSNV | - | 3/10 |
| 10-97605057-C-G | ENTPD1 | c.574-57C>G | - | IntronicSNV | - | 5/9 |
| 16-56412526-T-A | AMFR | c.1380+7305A>T | - | IntronicSNV | - | 10/13 |
| 3-196617378-T-G | SENP5 | c.1513+3813T>G | - | IntronicSNV | - | 2/9 |
| 6-32606756-G-A | HLA-DQA1 | c.82+1439G>A | - | IntronicSNV | - | 1/4 |
| 17-61909485-T-A | SMARCD2 | c.*813A>T | - | 3-UTRSNV | 13/13 | - |
| 20-34537160-G-A | PHF20 | c.*1611G>A | - | 3-UTRSNV | 18/18 | - |
| 20-34537160-G-T | PHF20 | c.*1611G>T | - | 3-UTRSNV | 18/18 | - |
| 5-96226535-T-G | ERAP2 | c.971-1468T>G | - | IntronicSNV | - | 5/18 |
| 3-48505964-C-A | ATRIP | c.1975-17C>A | - | IntronicSNV | - | 10/12 |
| 17-34848874-T-C | ZNHIT3 | c.205+131T>C | - | IntronicSNV | - | 3/4 |
| 18-46634754-C-T | DYM | c.1746+10360G>A | - | IntronicSNV | - | 15/16 |
| 1-169279707-T-C | NME7 | c.279-389A>G | - | IntronicSNV | - | 3/11 |
| 12-6569983-C-G | TAPBPL | c.1208-38C>G | - | IntronicSNV | - | 5/6 |
| 10-97585014-T-A | ENTPD1 | c.144+1893T>A | - | IntronicSNV | - | 2/9 |
| 16-72059269-T-C | DHODH | c.*1171T>C | - | 3-UTRSNV | 9/9 | - |
| 16-56543558-A-G | BBS2 | c.612+311T>C | - | IntronicSNV | - | 5/16 |
| 3-57192294-G-T | IL17RD | c.126+6895C>A | - | IntronicSNV | - | 1/12 |
| 3-45479698-T-A | LARS2 | c.517-8685T>A | - | IntronicSNV | - | 6/21 |
| 17-61785904-C-T | STRADA | c.471-1126G>A | - | IntronicSNV | - | 6/10 |
| 10-70061352-T-C | PBLD | c.85-4610A>G | - | IntronicSNV | - | 2/9 |
| 3-45587983-A-G | LARS2 | c.2533-860A>G | - | IntronicSNV | - | 21/21 |
| 19-48711476-T-C | CARD8 | c.*3491A>G | - | 3-UTRSNV | 13/13 | - |
| 15-49037929-G-A | CEP152 | c.3467-740C>T | - | IntronicSNV | - | 21/25 |
| 1-89435414-A-G | KYAT3 | c.100-264T>C | - | IntronicSNV | - | 2/13 |
| 7-55929539-T-A | SEPT14 | c.54+97A>T | - | IntronicSNV | - | 2/9 |
| 19-9413896-C-A | ZNF699 | c.49-716G>T | - | IntronicSNV | - | 2/5 |
| 14-74168431-G-A | DNAL1 | c.*5786G>A | - | 3-UTRSNV | 8/8 | - |
| 1-205894276-T-C | SLC26A9 | c.1390-659A>G | - | IntronicSNV | - | 12/20 |
| 10-69935396-G-T | MYPN | c.2703+178G>T | - | IntronicSNV | - | 12/19 |
| 16-72201119-A-G | PMFBP1 | c.13-2304T>C | - | IntronicSNV | - | 2/20 |
| 3-46541503-G-A | RTP3 | c.156-343G>A | - | IntronicSNV | - | 1/1 |
| 15-44093927-T-C | HYPK | c.289T>C | - | missense_variant | 4/4 | - |
| 22-24210050-A-T | SLC2A11 | c.142-618A>T | - | IntronicSNV | - | 3/12 |
| 18-13123645-C-T | CEP192 | c.7476-986C>T | - | IntronicSNV | - | 44/44 |
| 1-205689807-T-A | NUCKS1 | c.230-26A>T | - | IntronicSNV | - | 4/6 |
| 1-205689807-T-C | NUCKS1 | c.230-26A>G | - | IntronicSNV | - | 4/6 |
| 5-96126308-A-G | ERAP1 | c.1359T>C | p.Ser453Ser | Synonymous | 9/20 | - |
| 13-36744910-C-T | SOHLH2 | c.1015G>A | p.Ala339Thr | Missense | 10/11 | - |
| 3-122460470-G-A | HSPBAP1 | c.826-510C>T | - | IntronicSNV | - | 6/7 |
| 6-125607559-T-C | HDDC2 | c.378+6428A>G | - | IntronicSNV | - | 4/5 |
| 11-656845-G-A | DEAF1 | c.1504-2794C>T | - | IntronicSNV | - | 10/11 |
| 10-131276220-T-C | MGMT | c.-13+10660T>C | - | intron_variant | - | 1/4 |
| 11-656845-G-C | DEAF1 | c.1504-2794C>G | - | IntronicSNV | - | 10/11 |
| 19-33109904-T-C | ANKRD27 | c.2007+262A>G | - | IntronicSNV | - | 20/28 |
| 19-33109904-T-A | ANKRD27 | c.2007+262A>T | - | IntronicSNV | - | 20/28 |
| 1-169281036-T-C | NME7 | c.279-1718A>G | - | IntronicSNV | - | 3/11 |
| 19-39297624-T-C | LGALS4 | c.340-389A>G | - | IntronicSNV | - | 3/9 |
| 17-4989618-G-A | ZFP3 | c.1-5182G>A | - | IntronicSNV | - | 1/1 |
| 9-136228865-C-A | SURF4 | c.*1504G>T | - | 3-UTRSNV | 6/6 | - |
| 3-57306319-T-C | ASB14 | c.*23-2673A>G | - | intron_variant | - | 10/10 |
| 12-81488011-T-C | ACSS3 | c.312-15328T>C | - | IntronicSNV | - | 1/15 |
| 12-81488011-T-A | ACSS3 | c.312-15328T>A | - | IntronicSNV | - | 1/15 |
| 16-72000195-C-G | PKD1L3 | c.2465+841G>C | - | IntronicSNV | - | 15/30 |
| 1-147119273-G-A | ACP6 | c.1239C>T | p.His413His | Synonymous | 10/10 | - |
| 3-121557251-A-T | EAF2 | c.106+3013A>T | - | IntronicSNV | - | 1/5 |
| 1-110295772-T-C | EPS8L3 | c.1167A>G | p.Ser389Ser | Synonymous | 13/19 | - |
| 22-38144235-C-T | TRIOBP | c.5323-3544C>T | - | IntronicSNV | - | 11/23 |
| 17-61763031-G-C | MAP3K3 | c.710+81G>C | - | IntronicSNV | - | 8/15 |
| 17-76772288-C-T | CYTH1 | c.22+5996G>A | - | IntronicSNV | - | 1/12 |
| 16-56542340-C-G | BBS2 | c.612+1529G>C | - | IntronicSNV | - | 5/16 |
| 1-245830480-A-G | KIF26B | c.2259-17055A>G | - | IntronicSNV | - | 10/14 |
| 1-245830480-A-C | KIF26B | c.2259-17055A>C | - | IntronicSNV | - | 10/14 |
| 1-205801872-A-G | PM20D1 | c.1139T>C | p.Ile380Thr | Missense | 11/13 | - |
| 11-688804-C-T | DEAF1 | c.388-344G>A | - | IntronicSNV | - | 2/11 |
| 3-48422235-T-A | FBXW12 | c.818T>A | p.Val273Asp | Missense | 8/11 | - |
| 11-688804-C-G | DEAF1 | c.388-344G>C | - | IntronicSNV | - | 2/11 |
| 16-23500558-T-G | GGA2 | c.476-528A>C | - | IntronicSNV | - | 5/16 |
| 16-23500558-T-C | GGA2 | c.476-528A>G | - | IntronicSNV | - | 5/16 |
| 6-32408735-A-C | HLA-DRA | c.82+926A>C | - | IntronicSNV | - | 1/4 |
| 16-56373308-G-A | GNAO1 | c.723+2536G>A | - | IntronicSNV | - | 6/8 |
| 1-147130661-C-T | ACP6 | c.559+414G>A | - | IntronicSNV | - | 4/9 |
| 16-56373308-G-T | GNAO1 | c.723+2536G>T | - | IntronicSNV | - | 6/8 |
| 9-34210872-T-A | UBAP1 | c.227-23342T>A | - | IntronicSNV | - | 1/5 |
| 6-125621645-C-T | HDDC2 | c.206+39G>A | - | IntronicSNV | - | 2/5 |
| 17-61782920-C-T | STRADA | c.748-978G>A | - | IntronicSNV | - | 8/10 |
| 9-34210872-T-C | UBAP1 | c.227-23342T>C | - | IntronicSNV | - | 1/5 |
| 19-36230174-T-C | IGFLR1 | c.*7A>G | - | 3-UTRSNV | 5/5 | - |
| 17-61646000-G-A | DCAF7 | c.139-9831G>A | - | IntronicSNV | - | 1/7 |
| 13-43603093-G-A | DNAJC15 | c.108+5223G>A | - | IntronicSNV | - | 1/5 |
| 1-89423623-T-A | KYAT3 | c.788-2715A>T | - | IntronicSNV | - | 8/13 |
| 3-45559621-C-T | LARS2 | c.2214+57C>T | - | IntronicSNV | - | 18/21 |
| 4-186323209-A-C | UFSP2 | c.1323+1439T>G | - | IntronicSNV | - | 11/11 |
| 4-186323209-A-G | UFSP2 | c.1323+1439T>C | - | IntronicSNV | - | 11/11 |
| 1-110295772-T-A | EPS8L3 | c.1167A>T | p.Ser389Ser | Synonymous | 13/19 | - |
| 5-96120455-C-T | ERAP1 | c.1944-671G>A | - | IntronicSNV | - | 13/19 |
| 9-34281390-A-G | KIF24 | c.1215+5225T>C | - | IntronicSNV | - | 6/12 |
| 19-9487592-T-A | ZNF559-ZNF177 | c.-54+493T>A | - | intron_variant | - | 7/11 |
| 19-57647236-T-G | ZIM3 | c.469A>C | p.Asn157His | Missense | 5/5 | - |
| 1-169165266-A-T | NME7 | c.991-26474T>A | - | IntronicSNV | - | 10/11 |
| 6-2890190-A-G | SERPINB9 | c.*207T>C | - | 3-UTRSNV | 7/7 | - |
| 19-57647236-T-C | ZIM3 | c.469A>G | p.Asn157Asp | Missense | 5/5 | - |
| 19-57647236-T-A | ZIM3 | c.469A>T | p.Asn157Tyr | Missense | 5/5 | - |
| 8-8707639-C-A | MFHAS1 | c.2998+39932G>T | - | IntronicSNV | - | 1/2 |
| 2-75883276-C-T | MRPL19 | c.*865C>T | - | 3-UTRSNV | 6/6 | - |
| 5-96295121-G-T | LNPEP | c.20-19721G>T | - | IntronicSNV | - | 1/17 |
| 1-169117882-T-C | NME7 | c.1099-15827A>G | - | IntronicSNV | - | 11/11 |
| 6-125607697-C-T | HDDC2 | c.378+6290G>A | - | IntronicSNV | - | 4/5 |
| 9-136305439-G-A | ADAMTS13 | c.1787-26G>A | - | IntronicSNV | - | 15/28 |
| 18-13069782-C-G | CEP192 | c.5101C>G | p.Leu1701Val | Missense | 27/45 | - |
| 17-76693551-C-A | CYTH1 | c.812+799G>T | - | IntronicSNV | - | 9/12 |
| 17-76693551-C-T | CYTH1 | c.812+799G>A | - | IntronicSNV | - | 9/12 |
| 17-76693551-C-G | CYTH1 | c.812+799G>C | - | IntronicSNV | - | 9/12 |
| 1-169281238-C-T | NME7 | c.279-1920G>A | - | IntronicSNV | - | 3/11 |
| 13-36826366-C-T | CCDC169 | c.468+1574G>A | - | IntronicSNV | - | 6/7 |
| 17-908529-A-T | ABR | c.*791T>A | - | 3-UTRSNV | 22/22 | - |
| 17-908529-A-G | ABR | c.*791T>C | - | 3-UTRSNV | 22/22 | - |
| 5-96097895-T-G | ERAP1 | c.*1009A>C | - | 3-UTRSNV | 20/20 | - |
| 2-99799267-A-G | MRPL30 | c.-28+1555A>G | - | intron_variant | - | 1/5 |
| 5-76729538-C-G | WDR41 | c.1228-426G>C | - | IntronicSNV | - | 12/12 |
| 10-131342129-A-C | MGMT | c.125+7488A>C | - | intron_variant | - | 2/4 |
| 8-28794678-C-T | HMBOX1 | c.1-26707C>T | - | IntronicSNV | - | 2/10 |
| 12-49881343-C-T | SPATS2 | c.106-1905C>T | - | IntronicSNV | - | 4/13 |
| 12-49881343-C-G | SPATS2 | c.106-1905C>G | - | IntronicSNV | - | 4/13 |
| 17-76700063-G-A | CYTH1 | c.171-1377C>T | - | IntronicSNV | - | 3/12 |
| 5-76711667-A-T | PDE8B | c.1912-2387A>T | - | IntronicSNV | - | 17/21 |
| 21-30256283-A-C | N6AMT1 | c.135-890T>G | - | IntronicSNV | - | 1/5 |
| 17-76737847-T-G | CYTH1 | c.23-32033A>C | - | IntronicSNV | - | 1/12 |
| 17-76737847-T-C | CYTH1 | c.23-32033A>G | - | IntronicSNV | - | 1/12 |
| 6-33651322-T-C | ITPR3 | c.4788+148T>C | - | IntronicSNV | - | 35/57 |
| 16-72122463-C-T | TXNL4B | c.284+423G>A | - | IntronicSNV | - | 3/3 |
| 1-205768309-C-T | SLC41A1 | c.553-80G>A | - | IntronicSNV | - | 4/10 |
| 3-45537973-C-T | LARS2 | c.1622+108C>T | - | IntronicSNV | - | 14/21 |
| 6-2950980-G-C | SERPINB6 | c.586-1677C>G | - | IntronicSNV | - | 6/7 |
| 4-186299656-A-G | LRP2BP | c.1-316T>C | - | 5-UTRSNV | 1/8 | - |
| 4-186299656-A-T | LRP2BP | c.1-316T>A | - | 5-UTRSNV | 1/8 | - |
| 12-26162211-G-A | RASSF8 | c.-109+14148G>A | - | intron_variant | - | 2/5 |
| 19-48720926-G-A | CARD8 | c.1153+1202C>T | - | IntronicSNV | - | 11/12 |
| 5-96238401-A-G | ERAP2 | c.1828+344A>G | - | IntronicSNV | - | 12/18 |
| 16-56503416-T-G | OGFOD1 | c.901-499T>G | - | IntronicSNV | - | 8/12 |
| 16-56503416-T-C | OGFOD1 | c.901-499T>C | - | IntronicSNV | - | 8/12 |
| 16-376781-G-A | AXIN1 | c.879-12098C>T | - | IntronicSNV | - | 2/10 |
| 16-23462639-C-A | COG7 | c.169+1508G>T | - | IntronicSNV | - | 1/16 |
| 9-136291063-C-T | ADAMTS13 | c.420C>T | p.Ala140Ala | Synonymous | 5/29 | - |
| 21-30344942-G-A | LTN1 | c.811-1176C>T | - | intron_variant | - | 6/29 |
| 12-25233857-C-G | LRMP | c.244+1160C>G | - | IntronicSNV | - | 8/20 |
| 6-2950980-G-T | SERPINB6 | c.586-1677C>A | - | IntronicSNV | - | 6/7 |
| 13-43666370-A-G | DNAJC15 | c.382+6396A>G | - | IntronicSNV | - | 5/5 |
| 13-43622941-G-C | DNAJC15 | c.109-16881G>C | - | IntronicSNV | - | 1/5 |
| 1-169387381-T-A | CCDC181 | c.1215+870A>T | - | IntronicSNV | - | 4/5 |
| 1-205685352-T-C | NUCKS1 | c.*2056A>G | - | 3-UTRSNV | 7/7 | - |
| 19-48737706-A-T | CARD8 | c.154T>A | p.Phe52Ile | Missense | 5/13 | - |
| 10-131287121-T-G | MGMT | c.-13+21561T>G | - | intron_variant | - | 1/4 |
| 12-25233857-C-A | LRMP | c.244+1160C>A | - | IntronicSNV | - | 8/20 |
| 6-2950980-G-A | SERPINB6 | c.586-1677C>T | - | IntronicSNV | - | 6/7 |
| 10-131272281-C-T | MGMT | c.-13+6721C>T | - | intron_variant | - | 1/4 |
| 9-34282429-C-G | KIF24 | c.1215+4186G>C | - | IntronicSNV | - | 6/12 |
| 13-36862736-C-G | CCDC169 | c.164-4897G>C | - | IntronicSNV | - | 2/7 |
| 13-36862736-C-T | CCDC169 | c.164-4897G>A | - | IntronicSNV | - | 2/7 |
| 7-55891901-C-G | SEPT14 | c.721-4985G>C | - | IntronicSNV | - | 6/9 |
| 7-120206740-C-T | KCND2 | c.1116-166217C>T | - | IntronicSNV | - | 1/5 |
| 22-24209759-G-C | SLC2A11 | c.142-909G>C | - | IntronicSNV | - | 3/12 |
| 12-6569983-C-T | TAPBPL | c.1208-38C>T | - | IntronicSNV | - | 5/6 |
| 10-131443990-A-G | MGMT | c.126-62169A>G | - | intron_variant | - | 2/4 |
| 13-43658209-G-A | DNAJC15 | c.312-1695G>A | - | IntronicSNV | - | 4/5 |
| 10-70060213-A-T | PBLD | c.85-3471T>A | - | IntronicSNV | - | 2/9 |
| 19-33134635-A-C | ANKRD27 | c.526-98T>G | - | IntronicSNV | - | 5/28 |
| 1-169356833-G-T | BLZF1 | c.*413G>T | - | IntronicSNV | - | 7/7 |
| 6-125519138-T-C | TPD52L1 | c.1-22154T>C | - | IntronicSNV | - | 1/6 |
| 3-57317780-T-C | ASB14 | c.470-313A>G | - | IntronicSNV | - | 5/10 |
| 3-122410208-G-C | PARP14 | c.356-940G>C | - | IntronicSNV | - | 3/16 |
| 7-55891901-C-T | SEPT14 | c.721-4985G>A | - | IntronicSNV | - | 6/9 |
| 19-33134635-A-G | ANKRD27 | c.526-98T>C | - | IntronicSNV | - | 5/28 |
| 7-55891901-C-A | SEPT14 | c.721-4985G>T | - | IntronicSNV | - | 6/9 |
| 1-89427571-G-A | KYAT3 | c.540+171C>T | - | IntronicSNV | - | 6/13 |
| 1-169093557-T-G | ATP1B1 | c.227-565T>G | - | IntronicSNV | - | 2/5 |
| 1-89427571-G-C | KYAT3 | c.540+171C>G | - | IntronicSNV | - | 6/13 |
| 1-89427571-G-T | KYAT3 | c.540+171C>A | - | IntronicSNV | - | 6/13 |
| 16-56412734-C-G | AMFR | c.1380+7097G>C | - | IntronicSNV | - | 10/13 |
| 4-186327233-C-G | UFSP2 | c.1122-223G>C | - | IntronicSNV | - | 9/11 |
| 22-24210050-A-C | SLC2A11 | c.142-618A>C | - | IntronicSNV | - | 3/12 |
| 22-24210050-A-G | SLC2A11 | c.142-618A>G | - | IntronicSNV | - | 3/12 |
| 10-97561941-C-A | ENTPD1 | c.17-21053C>A | - | IntronicSNV | - | 1/9 |
| 13-36805707-T-A | CCDC169 | c.546-278A>T | - | IntronicSNV | - | 7/7 |
| 19-33107938-G-A | ANKRD27 | c.2052+557C>T | - | IntronicSNV | - | 21/28 |
| 19-33105904-A-C | ANKRD27 | c.2175+660T>G | - | IntronicSNV | - | 22/28 |
| 16-56511245-T-G | OGFOD1 | c.*1128T>G | - | 3-UTRSNV | 13/13 | - |
| 5-96138471-G-C | ERAP1 | c.524+635C>G | - | IntronicSNV | - | 2/19 |
| 5-96138471-G-A | ERAP1 | c.524+635C>T | - | IntronicSNV | - | 2/19 |
| 3-196616593-T-C | SENP5 | c.1513+3028T>C | - | IntronicSNV | - | 2/9 |
| 3-196616593-T-A | SENP5 | c.1513+3028T>A | - | IntronicSNV | - | 2/9 |
| 4-84186158-C-T | COQ2 | c.1102-642G>A | - | IntronicSNV | - | 6/6 |
| 8-24313571-G-A | ADAM7 | c.234-7824G>A | - | IntronicSNV | - | 3/21 |
| 4-122612473-G-A | ANXA5 | c.10-4946C>T | - | IntronicSNV | - | 2/12 |
| 12-66560879-G-A | TMBIM4 | c.97+2756C>T | - | IntronicSNV | - | 1/6 |
| 19-36216056-G-T | KMT2B | c.3529-65G>T | - | IntronicSNV | - | 10/36 |
| 22-24228125-T-C | SLC2A11 | c.*1089T>C | - | IntergenicSNV | 13/13 | - |
| 5-76711667-A-G | PDE8B | c.1912-2387A>G | - | IntronicSNV | - | 17/21 |
| 17-76744555-C-A | CYTH1 | c.22+33729G>T | - | IntronicSNV | - | 1/12 |
| 16-72022041-G-A | PKD1L3 | c.586-1673C>T | - | IntronicSNV | - | 4/30 |
| 10-97523780-A-G | ENTPD1 | c.16+7768A>G | - | IntronicSNV | - | 1/9 |
| 1-153613545-G-A | CHTOP | c.220-1177G>A | - | IntronicSNV | - | 3/5 |
| 5-76720244-T-C | PDE8B | c.2419-1348T>C | - | IntronicSNV | - | 20/21 |
| 13-43654658-G-A | DNAJC15 | c.311+1834G>A | - | IntronicSNV | - | 4/5 |
| 7-150438799-G-T | GIMAP1-GIMAP5 | c.656-472G>T | - | IntronicSNV | - | 5/5 |
| 5-76761403-G-A | WDR41 | c.168-769C>T | - | IntronicSNV | - | 2/12 |
| 1-169092476-G-C | ATP1B1 | c.227-1646G>C | - | IntronicSNV | - | 2/5 |
| 7-75836382-A-T | SRRM3 | c.-40+4997A>T | - | intron_variant | - | 1/15 |
| 19-33138067-T-C | ANKRD27 | c.214-546A>G | - | IntronicSNV | - | 3/28 |
| 8-28755988-C-T | HMBOX1 | c.-58+6681C>T | - | intron_variant | - | 2/10 |
| 1-153613545-G-C | CHTOP | c.220-1177G>C | - | IntronicSNV | - | 3/5 |
| 5-76761403-G-C | WDR41 | c.168-769C>G | - | IntronicSNV | - | 2/12 |
| 16-56419628-G-A | AMFR | c.1380+203C>T | - | IntronicSNV | - | 10/13 |
| 10-70059043-G-T | PBLD | c.85-2301C>A | - | IntronicSNV | - | 2/9 |
| 10-70059043-G-A | PBLD | c.85-2301C>T | - | IntronicSNV | - | 2/9 |
| 1-147131465-T-C | ACP6 | c.479+46A>G | - | IntronicSNV | - | 3/9 |
| 1-147131465-T-A | ACP6 | c.479+46A>T | - | IntronicSNV | - | 3/9 |
| 5-96352068-C-T | LNPEP | c.2376+1269C>T | - | IntronicSNV | - | 13/17 |
| 19-48719991-C-G | CARD8 | c.1154-1350G>C | - | IntronicSNV | - | 11/12 |
| 17-7140606-A-G | PHF23 | c.159+98T>C | - | IntronicSNV | - | 3/4 |
| 6-32408597-G-A | HLA-DRA | c.82+788G>A | - | IntronicSNV | - | 1/4 |
| 17-74701717-T-C | MXRA7 | c.342+4970A>G | - | IntronicSNV | - | 1/4 |
| 20-34428078-A-T | PHF20 | c.84-2417A>T | - | IntronicSNV | - | 2/17 |
| 8-28924858-C-T | KIF13B | c.*3163G>A | - | 3-UTRSNV | 40/40 | - |
| 5-96225774-T-C | ERAP2 | c.970+765T>C | - | IntronicSNV | - | 5/18 |
| 1-110295643-G-T | EPS8L3 | c.1200+96C>A | - | IntronicSNV | - | 13/18 |
| 1-169344023-T-C | BLZF1 | c.29-1755T>C | - | IntronicSNV | - | 2/7 |
| 5-96244549-C-T | ERAP2 | c.2013-116C>T | - | IntronicSNV | - | 13/18 |
| 1-169368562-C-G | CCDC181 | c.1216-1936G>C | - | IntronicSNV | - | 4/5 |
| 12-6631169-C-A | NCAPD2 | c.1920C>A | p.Ile640Ile | Synonymous | 15/32 | - |
| 17-61728881-C-A | MAP3K3 | c.168-1036C>A | - | IntronicSNV | - | 3/15 |
| 20-42170327-C-T | L3MBTL1 | c.*559C>T | - | 3-UTRSNV | 22/22 | - |
| 6-3015865-C-T | NQO2 | c.405C>T | p.Ser135Ser | Synonymous | 5/7 | - |
| 3-23990414-A-G | NR1D2 | c.-210+2670A>G | - | intron_variant | - | 1/7 |
| 1-169331802-A-G | NME7 | c.3+5144T>C | - | IntronicSNV | - | 1/11 |
| 11-34490537-G-A | CAT | c.1434+595G>A | - | IntronicSNV | - | 11/12 |
| 2-99732741-G-A | TSGA10 | c.-140+1266C>T | - | intron_variant | - | 3/19 |
| 10-131448143-G-A | MGMT | c.126-58016G>A | - | intron_variant | - | 2/4 |
| 12-81511295-G-A | ACSS3 | c.456+7812G>A | - | IntronicSNV | - | 2/15 |
| 6-125515631-C-G | TPD52L1 | c.1-25661C>G | - | IntronicSNV | - | 1/6 |
| 11-34468936-A-T | CAT | c.67-1803A>T | - | IntronicSNV | - | 1/12 |
| 5-96352068-C-G | LNPEP | c.2376+1269C>G | - | IntronicSNV | - | 13/17 |
| 11-34468936-A-G | CAT | c.67-1803A>G | - | IntronicSNV | - | 1/12 |
| 8-8707639-C-G | MFHAS1 | c.2998+39932G>C | - | IntronicSNV | - | 1/2 |
| 6-107091199-G-A | QRSL1 | c.380+234G>A | - | IntronicSNV | - | 4/10 |
| 21-30409057-C-A | USP16 | c.448+362C>A | - | IntronicSNV | - | 5/17 |
| 10-131346464-T-C | MGMT | c.125+11823T>C | - | intron_variant | - | 2/4 |
| 16-360317-A-G | AXIN1 | c.1020-248T>C | - | IntronicSNV | - | 3/10 |
| 10-131431124-A-G | MGMT | c.126-75035A>G | - | intron_variant | - | 2/4 |
| 5-96364063-C-T | LNPEP | c.2947-43C>T | - | IntronicSNV | - | 17/17 |
| 3-45496144-G-A | LARS2 | c.607-4091G>A | - | IntronicSNV | - | 7/21 |
| 3-196662521-G-A | NCBP2 | c.*1361C>T | - | 3-UTRSNV | 4/4 | - |
| 5-96338505-C-T | LNPEP | c.1654-614C>T | - | IntronicSNV | - | 8/17 |
| 11-34467272-A-G | CAT | c.67-3467A>G | - | IntronicSNV | - | 1/12 |
| 4-39449595-T-C | KLB | c.2750-326T>C | - | IntronicSNV | - | 4/4 |
| 12-27130165-C-A | TM7SF3 | c.1190-875G>T | - | IntronicSNV | - | 9/11 |
| 9-136264493-C-T | STKLD1 | c.1082-1048C>T | - | IntronicSNV | - | 11/17 |
| 5-96221889-A-G | ERAP2 | c.715-470A>G | - | IntronicSNV | - | 3/18 |
| 8-28841821-G-A | HMBOX1 | c.586+4148G>A | - | IntronicSNV | - | 5/10 |
| 12-6639088-A-G | NCAPD2 | c.3801A>G | p.Val1267Val | Synonymous | 29/32 | - |
| 2-99732741-G-T | TSGA10 | c.-140+1266C>A | - | intron_variant | - | 3/19 |
| 12-6639088-A-T | NCAPD2 | c.3801A>T | p.Val1267Val | Synonymous | 29/32 | - |
| 3-196599322-T-G | SENP5 | c.-32+4378T>G | - | intron_variant | - | 1/9 |
| 13-43684498-C-T | DNAJC15 | c.*3114C>T | - | IntergenicSNV | 6/6 | - |
| 13-43684498-C-G | DNAJC15 | c.*3114C>G | - | IntergenicSNV | 6/6 | - |
| 17-74749273-C-T | MFSD11 | c.642-856C>T | - | IntronicSNV | - | 8/13 |
| 1-204917271-G-A | NFASC | c.92-2414G>A | - | IntronicSNV | - | 3/29 |
| 1-204917271-G-C | NFASC | c.92-2414G>C | - | IntronicSNV | - | 3/29 |
| 17-74749273-C-G | MFSD11 | c.642-856C>G | - | IntronicSNV | - | 8/13 |
| 5-96216784-G-A | ERAP2 | c.575+820G>A | - | IntronicSNV | - | 2/18 |
| 6-107114361-A-G | QRSL1 | c.*484A>G | - | 3-UTRSNV | 11/11 | - |
| 19-48715346-G-A | CARD8 | c.1199-114C>T | - | IntronicSNV | - | 12/12 |
| 16-56373222-G-C | GNAO1 | c.723+2450G>C | - | IntronicSNV | - | 6/8 |
| 4-169923584-C-T | CBR4 | c.401-228G>A | - | IntronicSNV | - | 3/4 |
| 16-56373222-G-A | GNAO1 | c.723+2450G>A | - | IntronicSNV | - | 6/8 |
| 1-205769223-C-T | SLC41A1 | c.481-265G>A | - | IntronicSNV | - | 3/10 |
| 7-23309119-T-C | GPNMB | c.1257-467T>C | - | IntronicSNV | - | 8/10 |
| 3-23904969-T-C | UBE2E1 | c.204-24089T>C | - | IntronicSNV | - | 3/5 |
| 2-75881828-T-C | MRPL19 | c.476-34T>C | - | IntronicSNV | - | 4/5 |
| 20-36486063-T-C | CTNNBL1 | c.1393-2238T>C | - | IntronicSNV | - | 13/15 |
| 10-97529271-T-C | ENTPD1 | c.16+13259T>C | - | IntronicSNV | - | 1/9 |
| 12-81492715-G-A | ACSS3 | c.312-10624G>A | - | IntronicSNV | - | 1/15 |
| 18-13029068-T-G | CEP192 | c.1051-594T>G | - | IntronicSNV | - | 9/44 |
| 8-79622363-T-G | ZC2HC1A | c.705-5093T>G | - | IntronicSNV | - | 7/8 |
| 1-89272303-T-C | PKN2 | c.1803+603T>C | - | IntronicSNV | - | 12/21 |
| 15-41067058-C-G | DNAJC17 | c.600+171G>C | - | IntronicSNV | - | 8/10 |
| 2-75906972-G-C | GCFC2 | c.1812+347C>G | - | IntronicSNV | - | 12/16 |
| 3-196676487-A-G | PIGZ | c.212-931T>C | - | IntronicSNV | - | 2/2 |
| 16-72001110-G-A | PKD1L3 | c.2391C>T | p.Leu797Leu | Synonymous | 15/31 | - |
| 18-13123645-C-G | CEP192 | c.7476-986C>G | - | IntronicSNV | - | 44/44 |
| 4-186346239-C-A | UFSP2 | c.3+781G>T | - | IntronicSNV | - | 1/11 |
| 2-75923413-T-A | GCFC2 | c.746A>T | p.Asn249Ile | Missense | 5/17 | - |
| 2-75923413-T-C | GCFC2 | c.746A>G | p.Asn249Ser | Missense | 5/17 | - |
| 2-88474370-A-G | THNSL2 | c.418+18A>G | - | IntronicSNV | - | 2/7 |
| 3-45479698-T-C | LARS2 | c.517-8685T>C | - | IntronicSNV | - | 6/21 |
| 19-17426501-T-G | DDA1 | c.137-242T>G | - | IntronicSNV | - | 3/4 |
| 8-8685646-T-C | MFHAS1 | c.2999-30645A>G | - | IntronicSNV | - | 1/2 |
| 1-110260742-T-C | GSTM5 | c.*694T>C | - | 3-UTRSNV | 8/8 | - |
| 9-136304497-A-G | ADAMTS13 | c.1716A>G | p.Thr572Thr | Synonymous | 15/29 | - |
| 9-136304497-A-T | ADAMTS13 | c.1716A>T | p.Thr572Thr | Synonymous | 15/29 | - |
| 9-136235100-G-C | SURF4 | c.49-779C>G | - | IntronicSNV | - | 1/5 |
| 18-13029068-T-A | CEP192 | c.1051-594T>A | - | IntronicSNV | - | 9/44 |
| 16-71983664-T-G | PKD1L3 | c.3618+18A>C | - | IntronicSNV | - | 21/30 |
| 16-71983664-T-A | PKD1L3 | c.3618+18A>T | - | IntronicSNV | - | 21/30 |
| 13-43559804-G-A | EPSTI1 | c.188+6310C>T | - | IntronicSNV | - | 1/12 |
| 18-13069782-C-T | CEP192 | c.5101C>T | p.Leu1701Phe | Missense | 27/45 | - |
| 13-43559804-G-C | EPSTI1 | c.188+6310C>G | - | IntronicSNV | - | 1/12 |
| 17-61812655-G-A | STRADA | c.-45+6446C>T | - | intron_variant | - | 1/10 |
| 3-194371496-G-C | LSG1 | c.1419+114C>G | - | IntronicSNV | - | 10/13 |
| 20-34448810-G-A | PHF20 | c.421-2125G>A | - | IntronicSNV | - | 5/17 |
| 20-34448810-G-C | PHF20 | c.421-2125G>C | - | IntronicSNV | - | 5/17 |
| 3-194371496-G-A | LSG1 | c.1419+114C>T | - | IntronicSNV | - | 10/13 |
| 6-26377573-T-A | BTN3A2 | c.*851T>A | - | 3_prime_UTR_variant | 9/9 | - |
| 1-165609300-G-A | MGST3 | c.-8+8770G>A | - | intron_variant | - | 1/5 |
| 14-74155356-G-A | DNAL1 | c.392-722G>A | - | IntronicSNV | - | 6/7 |
| 17-26216090-T-C | LYRM9 | c.-19+4253A>G | - | intron_variant | - | 1/3 |
| 16-23483353-C-T | GGA2 | c.1451-1867G>A | - | IntronicSNV | - | 14/16 |
| 5-96098214-G-A | ERAP1 | c.*690C>T | - | 3-UTRSNV | 20/20 | - |
| 10-97603830-T-C | ENTPD1 | c.414-403T>C | - | IntronicSNV | - | 4/9 |
| 2-160808314-T-C | PLA2R1 | c.3302-225A>G | - | IntronicSNV | - | 23/26 |
| 3-122410208-G-A | PARP14 | c.356-940G>A | - | IntronicSNV | - | 3/16 |
| 18-59852732-T-C | PIGN | c.-236+1345A>G | - | intron_variant | - | 1/30 |
| 10-131356084-T-A | MGMT | c.125+21443T>A | - | intron_variant | - | 2/4 |
| 3-45462135-A-T | LARS2 | c.516+914A>T | - | IntronicSNV | - | 6/21 |
| 3-45508718-G-A | LARS2 | c.751-7017G>A | - | IntronicSNV | - | 8/21 |
| 11-94865011-A-G | ENDOD1 | c.*2268A>G | - | 3-UTRSNV | 2/2 | - |
| 1-165601365-T-C | MGST3 | c.-8+835T>C | - | intron_variant | - | 1/5 |
| 13-36857500-A-C | CCDC169 | c.315+106T>G | - | IntronicSNV | - | 4/7 |
| 16-56511736-T-C | OGFOD1 | c.*1619T>C | - | IntergenicSNV | 13/13 | - |
| 16-419092-A-G | MRPL28 | c.417T>C | p.Tyr139Tyr | Synonymous | 3/6 | - |
| 10-131387183-G-A | MGMT | c.125+52542G>A | - | intron_variant | - | 2/4 |
| 10-131387183-G-C | MGMT | c.125+52542G>C | - | intron_variant | - | 2/4 |
| 10-131431068-G-A | MGMT | c.126-75091G>A | - | intron_variant | - | 2/4 |
| 2-20884586-G-C | LDAH | c.*2077C>G | - | IntergenicSNV | 7/7 | - |
| 16-419092-A-C | MRPL28 | c.417T>G | p.Tyr139* | Nonsense | 3/6 | - |
| 11-94843507-C-T | ENDOD1 | c.301-18034C>T | - | IntronicSNV | - | 1/1 |
| 6-32408527-C-T | HLA-DRA | c.82+718C>T | - | IntronicSNV | - | 1/4 |
| 6-32408527-C-G | HLA-DRA | c.82+718C>G | - | IntronicSNV | - | 1/4 |
| 11-94843507-C-A | ENDOD1 | c.301-18034C>A | - | IntronicSNV | - | 1/1 |
| 4-186321447-C-G | UFSP2 | c.*99G>C | - | 3-UTRSNV | 12/12 | - |
| 4-186321447-C-T | UFSP2 | c.*99G>A | - | 3-UTRSNV | 12/12 | - |
| 13-43545423-G-A | EPSTI1 | c.189-617C>T | - | IntronicSNV | - | 1/12 |
| 7-129391158-T-C | NRF1 | c.1349-3700T>C | - | IntronicSNV | - | 10/10 |
| 10-131269840-C-T | MGMT | c.-13+4280C>T | - | intron_variant | - | 1/4 |
| 1-89208080-G-A | PKN2 | c.349+1109G>A | - | IntronicSNV | - | 2/21 |
| 8-24333601-G-C | ADAM7 | c.634-345G>C | - | IntronicSNV | - | 7/21 |
| 10-70054947-T-C | PBLD | c.283+1076A>G | - | IntronicSNV | - | 4/9 |
| 13-36854362-A-G | CCDC169 | c.315+3244T>C | - | IntronicSNV | - | 4/7 |
| 22-38283605-A-G | EIF3L | c.1656+753A>G | - | IntronicSNV | - | 12/12 |
| 17-61850301-A-G | CCDC47 | c.-20+471T>C | - | intron_variant | - | 1/12 |
| 17-17085409-C-A | MPRIP | c.3045+2007C>A | - | IntronicSNV | - | 22/22 |
| 8-28933444-T-C | KIF13B | c.4459-584A>G | - | IntronicSNV | - | 37/39 |
| 1-169136833-T-C | NME7 | c.1098+1852A>G | - | IntronicSNV | - | 11/11 |
| 17-17085409-C-T | MPRIP | c.3045+2007C>T | - | IntronicSNV | - | 22/22 |
| 10-131295850-C-G | MGMT | c.-13+30290C>G | - | intron_variant | - | 1/4 |
| 5-96355603-A-G | LNPEP | c.2377-2401A>G | - | IntronicSNV | - | 13/17 |
| 14-75038841-A-G | LTBP2 | c.830+13716T>C | - | IntronicSNV | - | 3/35 |
| 17-61827856-T-C | CCDC47 | c.1371+1444A>G | - | IntronicSNV | - | 12/12 |
| 5-96350088-G-A | LNPEP | c.2219+553G>A | - | IntronicSNV | - | 12/17 |
| 5-96116940-G-C | ERAP1 | c.2448-38C>G | - | IntronicSNV | - | 16/19 |
| 19-33106621-C-T | ANKRD27 | c.2118G>A | p.Ala706Ala | Synonymous | 22/29 | - |
| 1-169292840-T-A | NME7 | c.112-319A>T | - | IntronicSNV | - | 2/11 |
| 20-34499368-C-T | PHF20 | c.1562-1803C>T | - | IntronicSNV | - | 10/17 |
| 19-6451433-G-A | SLC25A23 | c.1071+890C>T | - | IntronicSNV | - | 8/9 |
| 12-6622346-T-C | NCAPD2 | c.588-1085T>C | - | IntronicSNV | - | 6/31 |
| 3-48449149-C-A | PLXNB1 | c.6088-651G>T | - | IntronicSNV | - | 34/37 |
| 22-38272929-C-T | EIF3L | c.1078-752C>T | - | IntronicSNV | - | 10/12 |
| 22-38272929-C-A | EIF3L | c.1078-752C>A | - | IntronicSNV | - | 10/12 |
| 3-48448914-C-G | PLXNB1 | c.6088-416G>C | - | IntronicSNV | - | 34/37 |
| 16-56417047-T-C | AMFR | c.1380+2784A>G | - | IntronicSNV | - | 10/13 |
| 16-56417047-T-A | AMFR | c.1380+2784A>T | - | IntronicSNV | - | 10/13 |
| 19-57643099-G-A | USP29 | c.*287G>A | - | 3-UTRSNV | 4/4 | - |
| 13-36818037-A-G | CCDC169 | c.545+4706T>C | - | IntronicSNV | - | 7/7 |
| 10-70043190-C-T | PBLD | c.*744G>A | - | 3-UTRSNV | 10/10 | - |
| 1-247322298-G-T | ZNF124 | c.218+10C>A | - | IntronicSNV | - | 3/3 |
| 10-131448764-G-A | MGMT | c.126-57395G>A | - | intron_variant | - | 2/4 |
| 1-247322298-G-C | ZNF124 | c.218+10C>G | - | IntronicSNV | - | 3/3 |
| 1-247322298-G-A | ZNF124 | c.218+10C>T | - | IntronicSNV | - | 3/3 |
| 18-59822319-A-T | PIGN | c.443-435T>A | - | IntronicSNV | - | 6/30 |
| 10-131436561-A-G | MGMT | c.126-69598A>G | - | intron_variant | - | 2/4 |
| 18-59822319-A-C | PIGN | c.443-435T>G | - | IntronicSNV | - | 6/30 |
| 8-28753368-T-C | HMBOX1 | c.-58+4061T>C | - | intron_variant | - | 2/10 |
| 1-204069838-G-T | SOX13 | c.1-12206G>T | - | IntronicSNV | - | 1/13 |
| 6-125596750-T-A | HDDC2 | c.*542A>T | - | 3-UTRSNV | 6/6 | - |
| 10-69935396-G-A | MYPN | c.2703+178G>A | - | IntronicSNV | - | 12/19 |
| 19-39334811-T-A | HNRNPL | c.312-67A>T | - | IntronicSNV | - | 4/12 |
| 12-6622111-A-G | NCAPD2 | c.588-1320A>G | - | IntronicSNV | - | 6/31 |
| 17-61858537-G-A | DDX42 | c.1-5873G>A | - | IntronicSNV | - | 2/18 |
| 17-61858537-G-C | DDX42 | c.1-5873G>C | - | IntronicSNV | - | 2/18 |
| 6-125574696-A-G | TPD52L1 | c.300-167A>G | - | IntronicSNV | - | 4/6 |
| 9-136222490-A-T | SURF1 | c.106+634T>A | - | IntronicSNV | - | 2/8 |
| 6-125500112-G-A | TPD52L1 | c.-69+24434G>A | - | intron_variant | - | 1/6 |
| 9-136222490-A-G | SURF1 | c.106+634T>C | - | IntronicSNV | - | 2/8 |
| 1-247323260-C-A | ZNF124 | c.31-145G>T | - | IntronicSNV | - | 1/3 |
| 1-247323260-C-T | ZNF124 | c.31-145G>A | - | IntronicSNV | - | 1/3 |
| 4-169811757-T-C | PALLD | c.1965-316T>C | - | IntronicSNV | - | 10/20 |
| 17-61838259-G-A | CCDC47 | c.735+15C>T | - | IntronicSNV | - | 6/12 |
| 21-30405763-G-T | USP16 | c.241-1395G>T | - | IntronicSNV | - | 3/17 |
| 13-36841611-A-G | CCDC169 | c.316-13331T>C | - | IntronicSNV | - | 4/7 |
| 1-89429149-T-A | KYAT3 | c.454-1321A>T | - | IntronicSNV | - | 5/13 |
| 3-196617378-T-C | SENP5 | c.1513+3813T>C | - | IntronicSNV | - | 2/9 |
| 9-34272258-A-T | KIF24 | c.1216-330T>A | - | IntronicSNV | - | 6/12 |
| 1-153602861-G-C | S100A1 | c.1-137G>C | - | IntronicSNV | - | 1/2 |
| 6-125522271-C-A | TPD52L1 | c.1-19021C>A | - | IntronicSNV | - | 1/6 |
| 8-28825474-T-A | HMBOX1 | c.24-2086T>A | - | IntronicSNV | - | 3/10 |
| 16-56412526-T-G | AMFR | c.1380+7305A>C | - | IntronicSNV | - | 10/13 |
| 16-56412526-T-C | AMFR | c.1380+7305A>G | - | IntronicSNV | - | 10/13 |
| 9-77708152-T-C | OSTF1 | c.34+4510T>C | - | IntronicSNV | - | 1/9 |
| 13-36836199-T-A | CCDC169 | c.316-7919A>T | - | IntronicSNV | - | 4/7 |
| 13-36857290-G-A | CCDC169 | c.315+316C>T | - | IntronicSNV | - | 4/7 |
| 13-43562028-C-G | EPSTI1 | c.188+4086G>C | - | IntronicSNV | - | 1/12 |
| 7-83149754-T-C | SEMA3E | c.116-30164A>G | - | IntronicSNV | - | 1/16 |
| 16-71986995-G-A | PKD1L3 | c.2810-3C>T | - | IntronicSNV | - | 17/30 |
| 16-71986995-G-C | PKD1L3 | c.2810-3C>G | - | IntronicSNV | - | 17/30 |
| 9-136228865-C-T | SURF4 | c.*1504G>A | - | 3-UTRSNV | 6/6 | - |
| 9-136228865-C-G | SURF4 | c.*1504G>C | - | 3-UTRSNV | 6/6 | - |
| 6-32050544-C-T | TNXB | c.3446-441G>A | - | IntronicSNV | - | 8/43 |
| 11-19903757-G-A | NAV2 | c.770+2084G>A | - | IntronicSNV | - | 5/37 |
| 6-157968036-T-C | ZDHHC14 | c.406+4259T>C | - | IntronicSNV | - | 2/8 |
| 3-88101530-T-C | CGGBP1 | c.*3093A>G | - | 3-UTRSNV | 4/4 | - |
| 21-30256283-A-G | N6AMT1 | c.135-890T>C | - | IntronicSNV | - | 1/5 |
| 1-147091972-C-T | BCL9 | c.2011C>T | p.Pro671Ser | Missense | 8/10 | - |
| 1-147091972-C-G | BCL9 | c.2011C>G | p.Pro671Ala | Missense | 8/10 | - |
| 12-66591582-G-C | IRAK3 | c.133+8370G>C | - | IntronicSNV | - | 1/10 |
| 5-96216387-A-G | ERAP2 | c.575+423A>G | - | IntronicSNV | - | 2/18 |
| 5-96226535-T-C | ERAP2 | c.971-1468T>C | - | IntronicSNV | - | 5/18 |
| 19-6452305-A-G | SLC25A23 | c.1071+18T>C | - | IntronicSNV | - | 8/9 |
| 6-107089289-T-G | QRSL1 | c.283+493T>G | - | IntronicSNV | - | 3/10 |
| 16-72193036-G-A | PMFBP1 | c.166-4678C>T | - | IntronicSNV | - | 3/20 |
| 2-99626593-C-T | TSGA10 | c.2072+8070G>A | - | IntronicSNV | - | 19/19 |
| 5-96117300-G-A | ERAP1 | c.2447+97C>T | - | IntronicSNV | - | 16/19 |
| 16-72193036-G-T | PMFBP1 | c.166-4678C>A | - | IntronicSNV | - | 3/20 |
| 16-72193036-G-C | PMFBP1 | c.166-4678C>G | - | IntronicSNV | - | 3/20 |
| 5-96372165-G-A | LNPEP | c.*7928G>A | - | IntergenicSNV | 18/18 | - |
| 17-649067-A-G | GEMIN4 | c.2216T>C | p.Ile739Thr | Missense | 2/2 | - |
| 2-98503213-C-G | TMEM131 | c.359+1302G>C | - | IntronicSNV | - | 4/40 |
| 2-98503213-C-A | TMEM131 | c.359+1302G>T | - | IntronicSNV | - | 4/40 |
| 2-98503213-C-T | TMEM131 | c.359+1302G>A | - | IntronicSNV | - | 4/40 |
| 13-36838907-G-C | CCDC169 | c.316-10627C>G | - | IntronicSNV | - | 4/7 |
| 13-36838907-G-A | CCDC169 | c.316-10627C>T | - | IntronicSNV | - | 4/7 |
| 19-33138125-G-A | ANKRD27 | c.214-604C>T | - | IntronicSNV | - | 3/28 |
| 6-32069806-G-C | TNXB | c.1-3831C>G | - | IntronicSNV | - | 1/43 |
| 5-96338505-C-G | LNPEP | c.1654-614C>G | - | IntronicSNV | - | 8/17 |
| 10-97516764-A-G | ENTPD1 | c.16+752A>G | - | IntronicSNV | - | 1/9 |
| 1-75221150-G-A | TYW3 | c.560+3041G>A | - | IntronicSNV | - | 5/5 |
| 14-74209996-C-T | ELMSAN1 | c.1-3285G>A | - | IntronicSNV | - | 1/11 |
| 16-23483353-C-A | GGA2 | c.1451-1867G>T | - | IntronicSNV | - | 14/16 |
| 18-59840204-C-T | PIGN | c.-235-9315G>A | - | intron_variant | - | 1/30 |
| 12-81530886-G-A | ACSS3 | c.646-2024G>A | - | IntronicSNV | - | 3/15 |
| 18-59840204-C-A | PIGN | c.-235-9315G>T | - | intron_variant | - | 1/30 |
| 5-96274223-C-T | LNPEP | c.19+2345C>T | - | IntronicSNV | - | 1/17 |
| 2-75906972-G-A | GCFC2 | c.1812+347C>T | - | IntronicSNV | - | 12/16 |
| 8-79622363-T-C | ZC2HC1A | c.705-5093T>C | - | IntronicSNV | - | 7/8 |
| 8-79622363-T-A | ZC2HC1A | c.705-5093T>A | - | IntronicSNV | - | 7/8 |
| 10-97585014-T-G | ENTPD1 | c.144+1893T>G | - | IntronicSNV | - | 2/9 |
| 19-33104561-T-C | ANKRD27 | c.2175+2003A>G | - | IntronicSNV | - | 22/28 |
| 19-33104561-T-A | ANKRD27 | c.2175+2003A>T | - | IntronicSNV | - | 22/28 |
| 5-96225252-G-A | ERAP2 | c.970+243G>A | - | IntronicSNV | - | 5/18 |
| 1-89225976-T-A | PKN2 | c.421T>A | p.Leu141Ile | Missense | 3/22 | - |
| 1-89225976-T-C | PKN2 | c.421T>C | p.Leu141Leu | Synonymous | 3/22 | - |
| 2-99778985-T-C | LIPT1 | c.565T>C | p.Leu189Leu | Synonymous | 3/3 | - |
| 18-12977206-A-C | SEH1L | c.621-1545A>C | - | IntronicSNV | - | 5/8 |
| 13-36858016-C-T | CCDC169 | c.164-177G>A | - | IntronicSNV | - | 2/7 |
| 16-56446612-C-T | AMFR | c.348+1552G>A | - | IntronicSNV | - | 2/13 |
| 13-43656443-C-A | DNAJC15 | c.312-3461C>A | - | IntronicSNV | - | 4/5 |
| 12-81489714-A-G | ACSS3 | c.312-13625A>G | - | IntronicSNV | - | 1/15 |
| 17-48613837-A-G | EPN3 | c.1-81A>G | - | 5-UTRSNV | 2/10 | - |
| 17-48613837-A-T | EPN3 | c.1-81A>T | - | 5-UTRSNV | 2/10 | - |
| 17-48613837-A-C | EPN3 | c.1-81A>C | - | 5-UTRSNV | 2/10 | - |
| 22-38164106-C-T | TRIOBP | c.6498C>T | p.Tyr2166Tyr | Synonymous | 19/24 | - |
| 17-76728668-C-T | CYTH1 | c.23-22854G>A | - | IntronicSNV | - | 1/12 |
| 1-89427453-G-A | KYAT3 | c.541-264C>T | - | IntronicSNV | - | 6/13 |
| 10-70060078-T-G | PBLD | c.85-3336A>C | - | IntronicSNV | - | 2/9 |
| 10-70060078-T-A | PBLD | c.85-3336A>T | - | IntronicSNV | - | 2/9 |
| 10-70060078-T-C | PBLD | c.85-3336A>G | - | IntronicSNV | - | 2/9 |
| 6-107090614-C-A | QRSL1 | c.284-255C>A | - | IntronicSNV | - | 3/10 |
| 8-28706275-C-T | INTS9 | c.198+1455G>A | - | IntronicSNV | - | 3/16 |
| 8-28958517-T-C | KIF13B | c.4216-1759A>G | - | IntronicSNV | - | 35/39 |
| 8-28958517-T-A | KIF13B | c.4216-1759A>T | - | IntronicSNV | - | 35/39 |
| 1-205738302-G-A | RAB29 | c.*1168C>T | - | 3-UTRSNV | 6/6 | - |
| 20-34571484-T-C | CNBD2 | c.408-420T>C | - | IntronicSNV | - | 4/11 |
| 7-75633209-T-C | STYXL1 | c.600-36A>G | - | IntronicSNV | - | 6/8 |
| 10-70050617-G-T | PBLD | c.423+1150C>A | - | IntronicSNV | - | 6/9 |
| 17-7105399-A-G | DLG4 | c.916+823T>C | - | IntronicSNV | - | 10/21 |
| 3-122460513-C-A | HSPBAP1 | c.826-553G>T | - | IntronicSNV | - | 6/7 |
| 1-169265836-C-T | NME7 | c.648+1958G>A | - | IntronicSNV | - | 6/11 |
| 3-122460513-C-T | HSPBAP1 | c.826-553G>A | - | IntronicSNV | - | 6/7 |
| 16-361873-A-T | AXIN1 | c.1020-1804T>A | - | IntronicSNV | - | 3/10 |
| 16-361873-A-G | AXIN1 | c.1020-1804T>C | - | IntronicSNV | - | 3/10 |
| 17-76677481-A-G | CYTH1 | c.892-357T>C | - | IntronicSNV | - | 10/12 |
| 19-48720983-T-G | CARD8 | c.1153+1145A>C | - | IntronicSNV | - | 11/12 |
| 14-74162203-G-A | DNAL1 | c.533-402G>A | - | IntronicSNV | - | 7/7 |
| 5-96345739-A-T | LNPEP | c.2035+3520A>T | - | IntronicSNV | - | 11/17 |
| 17-61863184-G-T | DDX42 | c.1-1226G>T | - | IntronicSNV | - | 2/18 |
| 1-75204143-G-A | TYW3 | c.256-231G>A | - | IntronicSNV | - | 2/5 |
| 13-36829962-C-T | CCDC169 | c.316-1682G>A | - | IntronicSNV | - | 4/7 |
| 13-43613458-A-T | DNAJC15 | c.108+15588A>T | - | IntronicSNV | - | 1/5 |
| 5-96345739-A-C | LNPEP | c.2035+3520A>C | - | IntronicSNV | - | 11/17 |
| 5-96345739-A-G | LNPEP | c.2035+3520A>G | - | IntronicSNV | - | 11/17 |
| 3-122424613-T-C | PARP14 | c.3540+1018T>C | - | IntronicSNV | - | 8/16 |
| 12-6570539-A-T | TAPBPL | c.1291+435A>T | - | IntronicSNV | - | 6/6 |
| 18-59831462-T-C | PIGN | c.-235-573A>G | - | intron_variant | - | 1/30 |
| 11-692384-C-G | DEAF1 | c.290-786G>C | - | IntronicSNV | - | 1/11 |
| 13-36805834-G-A | CCDC169 | c.546-405C>T | - | IntronicSNV | - | 7/7 |
| 6-125520139-T-G | TPD52L1 | c.1-21153T>G | - | IntronicSNV | - | 1/6 |
| 16-369413-G-A | AXIN1 | c.879-4730C>T | - | IntronicSNV | - | 2/10 |
| 5-96245439-C-T | ERAP2 | c.2325C>T | p.Ser775Ser | Synonymous | 15/19 | - |
| 18-12984340-A-C | SEH1L | c.1070+151A>C | - | IntronicSNV | - | 8/8 |
| 8-28924858-C-A | KIF13B | c.*3163G>T | - | 3-UTRSNV | 40/40 | - |
| 18-12984340-A-T | SEH1L | c.1070+151A>T | - | IntronicSNV | - | 8/8 |
| 5-96363407-C-T | LNPEP | c.2865-30C>T | - | IntronicSNV | - | 16/17 |
| 17-902322-A-G | TIMM22 | c.435+107A>G | - | IntronicSNV | - | 2/3 |
| 6-2956443-G-T | SERPINB6 | c.178-539C>A | - | IntronicSNV | - | 3/7 |
| 19-48715153-T-C | CARD8 | c.1278A>G | p.Gln426Gln | Synonymous | 13/13 | - |
| 19-57647015-A-G | ZIM3 | c.690T>C | p.Asn230Asn | Synonymous | 5/5 | - |
| 13-43558672-A-G | EPSTI1 | c.188+7442T>C | - | IntronicSNV | - | 1/12 |
| 1-169287160-G-T | NME7 | c.278+5195C>A | - | IntronicSNV | - | 3/11 |
| 20-34517925-A-T | PHF20 | c.2105-1246A>T | - | IntronicSNV | - | 14/17 |
| 7-150440043-C-T | GIMAP1-GIMAP5 | c.1428C>T | p.Leu476Leu | Synonymous | 6/6 | - |
| 5-96126308-A-T | ERAP1 | c.1359T>A | p.Ser453Arg | Missense | 9/20 | - |
| 3-194364703-C-A | LSG1 | c.1797+599G>T | - | IntronicSNV | - | 13/13 |
| 8-2074042-A-G | MYOM2 | c.3694+1952A>G | - | IntronicSNV | - | 31/36 |
| 2-99689141-T-A | TSGA10 | c.938+340A>T | - | IntronicSNV | - | 12/19 |
| 18-13068132-T-C | CEP192 | c.4654T>C | p.Ser1552Pro | Missense | 23/45 | - |
| 19-33127022-T-C | ANKRD27 | c.1116+3240A>G | - | IntronicSNV | - | 12/28 |
| 3-194364703-C-T | LSG1 | c.1797+599G>A | - | IntronicSNV | - | 13/13 |
| 12-66513111-C-T | LLPH | c.*4509G>A | - | IntergenicSNV | 3/3 | - |
| 12-49832618-T-C | SPATS2 | c.1-22178T>C | - | IntronicSNV | - | 2/13 |
| 1-153618766-C-T | CHTOP | c.*1021C>T | - | 3-UTRSNV | 6/6 | - |
| 17-74701165-T-G | MXRA7 | c.342+5522A>C | - | IntronicSNV | - | 1/4 |
| 8-28776909-T-A | HMBOX1 | c.-58+27602T>A | - | intron_variant | - | 2/10 |
| 8-28776909-T-C | HMBOX1 | c.-58+27602T>C | - | intron_variant | - | 2/10 |
| 8-2080289-A-G | MYOM2 | c.3800+3069A>G | - | IntronicSNV | - | 32/36 |
| 1-89260091-G-A | PKN2 | c.1281+8195G>A | - | IntronicSNV | - | 8/21 |
| 5-96126197-A-G | ERAP1 | c.1452+18T>C | - | IntronicSNV | - | 9/19 |
| 1-89423920-C-T | KYAT3 | c.787+2930G>A | - | IntronicSNV | - | 8/13 |
| 9-77744416-A-C | OSTF1 | c.133-1078A>C | - | IntronicSNV | - | 3/9 |
| 9-77744416-A-G | OSTF1 | c.133-1078A>G | - | IntronicSNV | - | 3/9 |
| 13-43558846-T-C | EPSTI1 | c.188+7268A>G | - | IntronicSNV | - | 1/12 |
| 5-96221426-G-A | ERAP2 | c.715-933G>A | - | IntronicSNV | - | 3/18 |
| 16-71951845-A-C | IST1 | c.357+808A>C | - | IntronicSNV | - | 4/9 |
| 11-94858419-A-G | ENDOD1 | c.301-3122A>G | - | IntronicSNV | - | 1/1 |
| 1-89417918-C-A | KYAT3 | c.954+828G>T | - | IntronicSNV | - | 10/13 |
| 7-75657850-A-G | STYXL1 | c.165+110T>C | - | IntronicSNV | - | 3/8 |
| 1-89417918-C-T | KYAT3 | c.954+828G>A | - | IntronicSNV | - | 10/13 |
| 6-32412480-G-A | HLA-DRA | c.*63G>A | - | 3_prime_UTR_variant | 5/5 | - |
| 5-96222020-A-C | ERAP2 | c.715-339A>C | - | IntronicSNV | - | 3/18 |
| 1-205812614-C-T | PM20D1 | c.827+181G>A | - | IntronicSNV | - | 6/12 |
| 2-75882399-G-T | MRPL19 | c.867G>T | p.Ser289Ser | Synonymous | 6/6 | - |
| 2-75882399-G-A | MRPL19 | c.867G>A | p.Ser289Ser | Synonymous | 6/6 | - |
| 16-72142072-C-T | DHX38 | c.2965-54C>T | - | IntronicSNV | - | 21/26 |
| 2-88475047-G-A | THNSL2 | c.571+127G>A | - | IntronicSNV | - | 3/7 |
| 13-43644493-A-G | DNAJC15 | c.234+1354A>G | - | IntronicSNV | - | 3/5 |
| 13-43636417-A-C | DNAJC15 | c.109-3405A>C | - | IntronicSNV | - | 1/5 |
| 5-96222020-A-G | ERAP2 | c.715-339A>G | - | IntronicSNV | - | 3/18 |
| 5-96138471-G-T | ERAP1 | c.524+635C>A | - | IntronicSNV | - | 2/19 |
| 6-107085978-G-C | QRSL1 | c.25-2246G>C | - | IntronicSNV | - | 1/10 |
| 1-89435414-A-T | KYAT3 | c.100-264T>A | - | IntronicSNV | - | 2/13 |
| 1-169192760-G-A | NME7 | c.990+7196C>T | - | IntronicSNV | - | 10/11 |
| 16-56453981-T-C | AMFR | c.255+5004A>G | - | IntronicSNV | - | 1/13 |
| 3-23906463-A-G | UBE2E1 | c.204-22595A>G | - | IntronicSNV | - | 3/5 |
| 8-79581628-A-G | ZC2HC1A | c.16+3229A>G | - | IntronicSNV | - | 1/8 |
| 3-48478039-C-T | CCDC51 | c.1-1501G>A | - | IntronicSNV | - | 1/3 |
| 7-75649821-G-C | STYXL1 | c.307+1348C>G | - | IntronicSNV | - | 4/8 |
| 13-36836574-C-T | CCDC169 | c.316-8294G>A | - | IntronicSNV | - | 4/7 |
| 3-23990241-A-G | NR1D2 | c.-210+2497A>G | - | intron_variant | - | 1/7 |
| 18-59852101-T-C | PIGN | c.-236+1976A>G | - | intron_variant | - | 1/30 |
| 3-122435729-G-A | PARP14 | c.4001-1189G>A | - | IntronicSNV | - | 12/16 |
| 13-43531588-G-A | EPSTI1 | c.490-3431C>T | - | IntronicSNV | - | 5/12 |
| 17-61908271-C-T | PSMC5 | c.655C>T | p.Leu219Leu | Synonymous | 7/12 | - |
| 11-34481095-G-T | CAT | c.1057-1703G>T | - | IntronicSNV | - | 8/12 |
| 2-75892111-T-C | GCFC2 | c.2229-202A>G | - | IntronicSNV | - | 16/16 |
| 12-66593241-A-G | IRAK3 | c.134-9995A>G | - | IntronicSNV | - | 1/10 |
| 17-61908271-C-G | PSMC5 | c.655C>G | p.Leu219Val | Missense | 7/12 | - |
| 1-147136284-G-A | ACP6 | c.220-4394C>T | - | IntronicSNV | - | 1/9 |
| 22-38255325-A-C | EIF3L | c.435+578A>C | - | IntronicSNV | - | 5/12 |
| 22-38255325-A-G | EIF3L | c.435+578A>G | - | IntronicSNV | - | 5/12 |
| 22-38255325-A-T | EIF3L | c.435+578A>T | - | IntronicSNV | - | 5/12 |
| 16-360303-T-C | AXIN1 | c.1020-234A>G | - | IntronicSNV | - | 3/10 |
| 17-17009331-C-A | MPRIP | c.268-20685C>A | - | IntronicSNV | - | 3/22 |
| 2-75882855-A-G | MRPL19 | c.*444A>G | - | 3-UTRSNV | 6/6 | - |
| 7-75841589-C-T | SRRM3 | c.-40+10204C>T | - | intron_variant | - | 1/15 |
| 16-369413-G-C | AXIN1 | c.879-4730C>G | - | IntronicSNV | - | 2/10 |
| 5-96340616-T-A | LNPEP | c.1786-1161T>A | - | IntronicSNV | - | 9/17 |
| 5-96340616-T-G | LNPEP | c.1786-1161T>G | - | IntronicSNV | - | 9/17 |
| 19-33088366-T-C | ANKRD27 | c.*685A>G | - | 3-UTRSNV | 29/29 | - |
| 5-96116940-G-A | ERAP1 | c.2448-38C>T | - | IntronicSNV | - | 16/19 |
| 13-43683020-A-G | DNAJC15 | c.*1636A>G | - | 3-UTRSNV | 6/6 | - |
| 3-122471986-C-G | HSPBAP1 | c.742-465G>C | - | IntronicSNV | - | 5/7 |
| 11-94865334-T-C | ENDOD1 | c.*2591T>C | - | 3-UTRSNV | 2/2 | - |
| 1-237027668-G-C | MTR | c.2405+814G>C | - | IntronicSNV | - | 22/32 |
| 5-96216173-A-G | ERAP2 | c.575+209A>G | - | IntronicSNV | - | 2/18 |
| 1-89351811-C-A | GTF2B | c.124+1133G>T | - | IntronicSNV | - | 2/6 |
| 2-3502398-C-T | ADI1 | c.*336G>A | - | 3-UTRSNV | 4/4 | - |
| 2-3502398-C-A | ADI1 | c.*336G>T | - | 3-UTRSNV | 4/4 | - |
| 2-75882855-A-T | MRPL19 | c.*444A>T | - | 3-UTRSNV | 6/6 | - |
| 22-24314006-G-T | DDTL | c.*411G>T | - | 3-UTRSNV | 3/3 | - |
| 1-169124402-A-G | NME7 | c.1098+14283T>C | - | IntronicSNV | - | 11/11 |
| 12-110300147-A-G | GLTP | c.104-3601T>C | - | IntronicSNV | - | 1/4 |
| 17-61702989-A-G | MAP3K3 | c.4+2866A>G | - | IntronicSNV | - | 1/15 |
| 19-48737449-G-C | CARD8 | c.200+211C>G | - | IntronicSNV | - | 5/12 |
| 16-56471410-T-C | NUDT21 | c.471+2159A>G | - | IntronicSNV | - | 4/6 |
| 18-59836008-T-C | PIGN | c.-235-5119A>G | - | intron_variant | - | 1/30 |
| 8-28885661-T-C | HMBOX1 | c.851+9231T>C | - | IntronicSNV | - | 7/10 |
| 1-169093557-T-A | ATP1B1 | c.227-565T>A | - | IntronicSNV | - | 2/5 |
| 5-96245518-A-G | ERAP2 | c.2354+50A>G | - | IntronicSNV | - | 15/18 |
| 2-99865548-G-A | LYG2 | c.44-2265C>T | - | IntronicSNV | - | 2/5 |
| 6-32609427-T-C | HLA-DQA1 | c.331+92T>C | - | IntronicSNV | - | 2/4 |
| 4-169774552-A-G | PALLD | c.1965-37521A>G | - | IntronicSNV | - | 10/20 |
| 5-96123815-G-T | ERAP1 | c.1679+419C>A | - | IntronicSNV | - | 11/19 |
| 8-24341385-G-T | ADAM7 | c.876-1405G>T | - | IntronicSNV | - | 9/21 |
| 10-131412157-G-A | MGMT | c.125+77516G>A | - | intron_variant | - | 2/4 |
| 5-96289711-G-T | LNPEP | c.19+17833G>T | - | IntronicSNV | - | 1/17 |
| 6-125607559-T-A | HDDC2 | c.378+6428A>T | - | IntronicSNV | - | 4/5 |
| 19-48743469-A-G | CARD8 | c.59+750T>C | - | IntronicSNV | - | 4/12 |
| 16-23512592-G-T | GGA2 | c.92-5493C>A | - | IntronicSNV | - | 1/16 |
| 17-61812733-G-A | STRADA | c.-45+6368C>T | - | intron_variant | - | 1/10 |
| 13-36812104-G-A | CCDC169 | c.546-6675C>T | - | IntronicSNV | - | 7/7 |
| 5-96289711-G-C | LNPEP | c.19+17833G>C | - | IntronicSNV | - | 1/17 |
| 5-96289711-G-A | LNPEP | c.19+17833G>A | - | IntronicSNV | - | 1/17 |
| 3-48449149-C-T | PLXNB1 | c.6088-651G>A | - | IntronicSNV | - | 34/37 |
| 19-39334811-T-G | HNRNPL | c.312-67A>C | - | IntronicSNV | - | 4/12 |
| 3-122435750-G-A | PARP14 | c.4001-1168G>A | - | IntronicSNV | - | 12/16 |
| 9-136238509-G-A | SURF4 | c.49-4188C>T | - | IntronicSNV | - | 1/5 |
| 1-153613783-A-G | CHTOP | c.220-939A>G | - | IntronicSNV | - | 3/5 |
| 1-153613783-A-T | CHTOP | c.220-939A>T | - | IntronicSNV | - | 3/5 |
| 16-23475140-T-G | GGA2 | c.*3771A>C | - | 3-UTRSNV | 17/17 | - |
| 9-34303922-A-G | KIF24 | c.813+2328T>C | - | IntronicSNV | - | 3/12 |
| 11-34463593-T-C | CAT | c.66+2967T>C | - | IntronicSNV | - | 1/12 |
| 2-75905719-C-T | GCFC2 | c.1812+1600G>A | - | IntronicSNV | - | 12/16 |
| 3-45507305-T-A | LARS2 | c.750+6927T>A | - | IntronicSNV | - | 8/21 |
| 2-3511044-C-A | ADI1 | c.241-6280G>T | - | IntronicSNV | - | 2/3 |
| 18-59852732-T-A | PIGN | c.-236+1345A>T | - | intron_variant | - | 1/30 |
| 16-72137561-G-C | DHX38 | c.1698G>C | p.Thr566Thr | Synonymous | 13/27 | - |
| 16-72137561-G-A | DHX38 | c.1698G>A | p.Thr566Thr | Synonymous | 13/27 | - |
| 10-97550740-G-A | ENTPD1 | c.17-32254G>A | - | IntronicSNV | - | 1/9 |
| 19-9418184-A-C | ZNF699 | c.-6+1842T>G | - | intron_variant | - | 1/5 |
| 8-28894237-C-T | HMBOX1 | c.852-8641C>T | - | IntronicSNV | - | 7/10 |
| 12-6626369-G-C | NCAPD2 | c.1186-162G>C | - | IntronicSNV | - | 10/31 |
| 1-205762406-C-T | SLC41A1 | c.1357-1560G>A | - | IntronicSNV | - | 10/10 |
| 3-45451623-C-T | LARS2 | c.364-7351C>T | - | IntronicSNV | - | 4/21 |
| 8-24333601-G-A | ADAM7 | c.634-345G>A | - | IntronicSNV | - | 7/21 |
| 6-125621618-A-G | HDDC2 | c.206+66T>C | - | IntronicSNV | - | 2/5 |
| 1-169339268-G-A | BLZF1 | c.28+480G>A | - | IntronicSNV | - | 2/7 |
| 1-169339268-G-C | BLZF1 | c.28+480G>C | - | IntronicSNV | - | 2/7 |
| 16-23504248-G-A | GGA2 | c.351+433C>T | - | IntronicSNV | - | 4/16 |
| 22-24221405-G-A | SLC2A11 | c.706+1349G>A | - | IntronicSNV | - | 7/12 |
| 16-23463305-C-G | COG7 | c.169+842G>C | - | IntronicSNV | - | 1/16 |
| 22-24221405-G-C | SLC2A11 | c.706+1349G>C | - | IntronicSNV | - | 7/12 |
| 1-205558402-T-G | MFSD4A | c.1150-2866T>G | - | IntronicSNV | - | 6/9 |
| 1-89443967-A-T | KYAT3 | c.100-8817T>A | - | IntronicSNV | - | 2/13 |
| 17-61912392-C-T | SMARCD2 | c.724-232G>A | - | IntronicSNV | - | 5/12 |
| 6-32412539-A-G | HLA-DRA | c.*122A>G | - | 3_prime_UTR_variant | 5/5 | - |
| 22-38371328-C-T | SOX10 | c.698-1123G>A | - | IntronicSNV | - | 3/3 |
| 9-77699899-T-C | NMRK1 | c.1-1868A>G | - | IntronicSNV | - | 1/8 |
| 5-96114346-A-C | ERAP1 | c.2670+1781T>G | - | IntronicSNV | - | 18/19 |
| 17-61769456-T-C | MAP3K3 | c.1475-146T>C | - | IntronicSNV | - | 14/15 |
| 19-57647015-A-T | ZIM3 | c.690T>A | p.Asn230Lys | Missense | 5/5 | - |
| 5-96114346-A-T | ERAP1 | c.2670+1781T>A | - | IntronicSNV | - | 18/19 |
| 1-169150253-C-G | NME7 | c.991-11461G>C | - | IntronicSNV | - | 10/11 |
| 9-34303922-A-T | KIF24 | c.813+2328T>A | - | IntronicSNV | - | 3/12 |
| 17-61796306-T-C | STRADA | c.13-4838A>G | - | IntronicSNV | - | 2/10 |