Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-160968005-G-C | F11R | c.*656C>G | - | 3-UTRSNV | 10/10 | - |
1-160968005-G-T | F11R | c.*656C>A | - | 3-UTRSNV | 10/10 | - |
6-163919209-C-G | QKI | c.402+19281C>G | - | IntronicSNV | - | 3/7 |
1-25891174-G-A | LDLRAP1 | c.748-490G>A | - | IntronicSNV | - | 7/8 |
6-163892552-G-C | QKI | c.286-7260G>C | - | IntronicSNV | - | 2/7 |
19-50867492-A-G | NAPSA | c.83+1304T>C | - | IntronicSNV | - | 1/8 |
10-100168631-G-T | PYROXD2 | c.148-877C>A | - | IntronicSNV | - | 2/15 |
5-131821246-G-A | IRF1 | c.717+113C>T | - | IntronicSNV | - | 8/9 |
8-95860171-A-G | INTS8 | c.1261-1519A>G | - | IntronicSNV | - | 10/26 |
9-139939197-T-C | NPDC1 | c.112+1133A>G | - | IntronicSNV | - | 1/8 |
5-90449154-G-T | ADGRV1 | c.18741G>T | p.Gly6247Gly | Synonymous | 89/90 | - |
5-90449154-G-A | ADGRV1 | c.18741G>A | p.Gly6247Gly | Synonymous | 89/90 | - |
3-134325626-A-G | KY | c.1090+1865T>C | - | IntronicSNV | - | 10/10 |
11-64082807-C-T | ESRRA | c.1012+65C>T | - | IntronicSNV | - | 6/6 |
5-112386154-G-T | MCC | c.2449-1158C>A | - | IntronicSNV | - | 15/18 |
1-160966963-C-T | F11R | c.*1698G>A | - | 3-UTRSNV | 10/10 | - |
19-55494740-T-C | NLRP2 | c.1674T>C | p.Phe558Phe | Synonymous | 6/13 | - |
2-219143229-G-A | TMBIM1 | c.473+9C>T | - | IntronicSNV | - | 6/11 |
20-34445142-G-A | PHF20 | c.341-1082G>A | - | IntronicSNV | - | 4/17 |
6-52888053-A-G | ICK | c.359-3896T>C | - | IntronicSNV | - | 6/14 |
12-105598672-G-A | APPL2 | c.622-1109C>T | - | IntronicSNV | - | 8/20 |
2-219606052-C-T | TTLL4 | c.1661+745C>T | - | IntronicSNV | - | 5/19 |
5-122313534-T-C | SNX24 | c.250-22073T>C | - | IntronicSNV | - | 3/6 |
17-56584205-A-C | MTMR4 | c.890T>G | p.Val297Gly | Missense | 10/19 | - |
16-56395610-G-A | AMFR | c.*1211C>T | - | 3-UTRSNV | 14/14 | - |
3-49156676-A-G | USP19 | c.1-98T>C | - | 5-UTRSNV | 2/26 | - |
14-25100933-C-T | GZMB | c.600+131G>A | - | IntronicSNV | - | 4/4 |
8-144675048-G-C | EEF1D | c.-131-2140C>G | - | intron_variant | - | 1/9 |
9-123162392-C-T | CDK5RAP2 | c.5451+628G>A | - | IntronicSNV | - | 35/37 |
1-114639939-T-G | SYT6 | c.1260+410A>C | - | IntronicSNV | - | 6/7 |
6-163935382-C-A | QKI | c.403-20632C>A | - | IntronicSNV | - | 3/7 |
20-34412049-G-A | PHF20 | c.84-18446G>A | - | IntronicSNV | - | 2/17 |
2-219140288-G-T | TMBIM1 | c.846C>A | p.Pro282Pro | Synonymous | 12/12 | - |
2-219140288-G-A | TMBIM1 | c.846C>T | p.Pro282Pro | Synonymous | 12/12 | - |
2-219140288-G-C | TMBIM1 | c.846C>G | p.Pro282Pro | Synonymous | 12/12 | - |
11-126086701-A-G | FAM118B | c.-77+4976A>G | - | intron_variant | - | 1/8 |
7-150437927-C-T | GIMAP1-GIMAP5 | c.607-40C>T | - | IntronicSNV | - | 4/5 |
10-100167466-G-A | PYROXD2 | c.242-54C>T | - | IntronicSNV | - | 3/15 |
2-74489062-G-A | SLC4A5 | c.811+202C>T | - | IntronicSNV | - | 6/25 |
5-131819126-C-T | IRF1 | c.*517G>A | - | 3-UTRSNV | 10/10 | - |
3-53921894-G-A | SELENOK | c.110+526C>T | - | IntronicSNV | - | 2/4 |
1-161159147-C-T | ADAMTS4 | c.*1781G>A | - | IntergenicSNV | 9/9 | - |
1-28211384-G-A | THEMIS2 | c.647-422G>A | - | IntronicSNV | - | 3/4 |
6-33051139-G-A | HLA-DPB1 | c.365-1588G>A | - | IntronicSNV | - | 2/5 |
20-25477883-C-A | NINL | c.1170-444G>T | - | IntronicSNV | - | 9/23 |
20-25477883-C-T | NINL | c.1170-444G>A | - | IntronicSNV | - | 9/23 |
1-11869230-C-T | CLCN6 | c.147+1983C>T | - | IntronicSNV | - | 2/22 |
22-26921725-A-C | TPST2 | c.*516T>G | - | 3_prime_UTR_variant | 7/7 | - |
15-79172766-T-G | MORF4L1 | c.88-88T>G | - | IntronicSNV | - | 2/11 |
10-73512373-C-T | VSIR | c.704+359G>A | - | IntronicSNV | - | 5/6 |
17-17178173-G-C | COPS3 | c.125+1176C>G | - | IntronicSNV | - | 2/11 |
10-100155613-A-T | PYROXD2 | c.626-404T>A | - | IntronicSNV | - | 6/15 |
1-11850365-T-A | MTHFR | c.*372A>T | - | 3-UTRSNV | 12/12 | - |
1-11850365-T-G | MTHFR | c.*372A>C | - | 3-UTRSNV | 12/12 | - |
5-112321070-T-G | DCP2 | c.54-462T>G | - | IntronicSNV | - | 1/10 |
1-63915882-A-G | ITGB3BP | c.485-3355T>C | - | IntronicSNV | - | 7/8 |
21-47957767-T-C | DIP2A | c.1801+315T>C | - | IntronicSNV | - | 15/37 |
16-74486189-T-C | GLG1 | c.3537-160A>G | - | IntronicSNV | - | 26/26 |
1-213037661-G-T | FLVCR1 | c.883+450G>T | - | IntronicSNV | - | 2/9 |
10-100156990-T-C | PYROXD2 | c.625+112A>G | - | IntronicSNV | - | 6/15 |
6-163937242-A-G | QKI | c.403-18772A>G | - | IntronicSNV | - | 3/7 |
5-142383109-A-G | ARHGAP26 | c.1108-10536A>G | - | IntronicSNV | - | 11/22 |
5-142383109-A-T | ARHGAP26 | c.1108-10536A>T | - | IntronicSNV | - | 11/22 |
13-113204382-C-T | TUBGCP3 | c.967-1892G>A | - | IntronicSNV | - | 8/21 |
1-28212272-G-A | THEMIS2 | c.*21-106G>A | - | intron_variant | - | 4/4 |
19-12586385-A-G | ZNF709 | c.4-8721T>C | - | IntronicSNV | - | 1/3 |
8-42019613-G-A | AP3M2 | c.446-186G>A | - | IntronicSNV | - | 4/9 |
12-113386950-T-C | OAS3 | c.1314T>C | p.Ile438Ile | Synonymous | 6/16 | - |
12-717138-G-C | NINJ2 | c.34-41794C>G | - | intron_variant | - | 1/3 |
2-31346746-T-C | GALNT14 | c.129+14078A>G | - | IntronicSNV | - | 1/14 |
5-156915088-T-C | ADAM19 | c.2550+185A>G | - | IntronicSNV | - | 21/22 |
7-128670964-G-A | TNPO3 | c.121-12753C>T | - | IntronicSNV | - | 1/22 |
10-100164989-C-T | PYROXD2 | c.315+2350G>A | - | IntronicSNV | - | 4/15 |
12-121779733-A-G | ANAPC5 | c.360+73T>C | - | IntronicSNV | - | 5/16 |
3-122127592-A-G | FAM162A | c.373-994A>G | - | IntronicSNV | - | 4/4 |
10-100148058-T-C | PYROXD2 | c.1447+53A>G | - | IntronicSNV | - | 13/15 |
17-5022639-C-G | ZNF232 | c.-530+3633G>C | - | intron_variant | - | 1/4 |
3-193346648-A-C | OPA1 | c.789+2657A>C | - | IntronicSNV | - | 7/30 |
16-56396486-C-T | AMFR | c.*335G>A | - | 3-UTRSNV | 14/14 | - |
5-112315853-G-A | DCP2 | c.53+3170G>A | - | IntronicSNV | - | 1/10 |
20-34439391-G-A | PHF20 | c.340+4035G>A | - | IntronicSNV | - | 4/17 |
16-69358916-G-A | VPS4A | c.*704G>A | - | 3-UTRSNV | 11/11 | - |
7-150438089-T-C | GIMAP1-GIMAP5 | c.655+74T>C | - | IntronicSNV | - | 5/5 |
13-111301996-C-T | CARS2 | c.1054+1385G>A | - | IntronicSNV | - | 10/14 |
10-6471961-C-T | PRKCQ | c.1965+811G>A | - | IntronicSNV | - | 17/17 |
12-29496991-C-T | ERGIC2 | c.826-776G>A | - | IntronicSNV | - | 11/13 |
5-179404375-G-A | RNF130 | c.848+828C>T | - | IntronicSNV | - | 5/8 |
1-156304782-A-G | CCT3 | c.94-73T>C | - | IntronicSNV | - | 2/13 |
15-77407114-C-G | PEAK1 | c.4625G>C | p.Ser1542Thr | Missense | 8/8 | - |
3-126173470-C-T | ZXDC | c.2212+5026G>A | - | IntronicSNV | - | 7/9 |
12-121687269-G-A | CAMKK2 | c.1323+321C>T | - | IntronicSNV | - | 13/15 |
5-112362840-G-A | MCC | c.*159C>T | - | 3-UTRSNV | 19/19 | - |
10-100148176-A-G | PYROXD2 | c.1382T>C | p.Met461Thr | Missense | 13/16 | - |
5-80541291-T-C | CKMT2 | c.-21+1267T>C | - | intron_variant | - | 2/10 |
11-63927810-A-G | MACROD1 | c.298+5359T>C | - | IntronicSNV | - | 1/10 |
1-151858888-A-G | THEM4 | c.557+1861T>C | - | IntronicSNV | - | 4/5 |
7-150437927-C-A | GIMAP1-GIMAP5 | c.607-40C>A | - | IntronicSNV | - | 4/5 |
6-33740382-G-A | LEMD2 | c.*23C>T | - | 3-UTRSNV | 9/9 | - |
10-100163928-T-C | PYROXD2 | c.315+3411A>G | - | IntronicSNV | - | 4/15 |
1-154243115-C-T | UBAP2L | c.*344C>T | - | 3-UTRSNV | 27/27 | - |
5-96103352-C-T | ERAP1 | c.2819-4420G>A | - | IntronicSNV | - | 19/19 |
20-33857544-C-G | MMP24 | c.1195-19C>G | - | IntronicSNV | - | 6/8 |
7-2290685-C-T | NUDT1 | c.*49C>T | - | 3-UTRSNV | 4/4 | - |
1-180138318-C-T | QSOX1 | c.366+2592C>T | - | IntronicSNV | - | 2/11 |
1-180138318-C-G | QSOX1 | c.366+2592C>G | - | IntronicSNV | - | 2/11 |
6-163880506-C-T | QKI | c.285+4053C>T | - | IntronicSNV | - | 2/7 |
17-80829980-C-T | TBCD | c.1475+1724C>T | - | IntronicSNV | - | 14/38 |
1-160977702-A-G | F11R | c.65-6559T>C | - | IntronicSNV | - | 1/9 |
18-44581310-A-T | KATNAL2 | c.116+501A>T | - | IntronicSNV | - | 3/14 |
18-28580677-G-A | DSC3 | c.2235+907C>T | - | IntronicSNV | - | 14/15 |
1-11852300-C-T | MTHFR | c.1632+35G>A | - | IntronicSNV | - | 10/11 |
9-123166919-C-T | CDK5RAP2 | c.4964-528G>A | - | IntronicSNV | - | 32/37 |
17-74286173-A-G | QRICH2 | c.3215-15T>C | - | IntronicSNV | - | 4/18 |
11-93478342-G-C | C11orf54 | c.1-2218G>C | - | IntronicSNV | - | 1/7 |
22-43023535-A-G | CYB5R3 | c.547+76T>C | - | IntronicSNV | - | 6/8 |
3-50028385-G-A | RBM6 | c.1484-8488G>A | - | IntronicSNV | - | 5/20 |
6-163935209-G-C | QKI | c.403-20805G>C | - | IntronicSNV | - | 3/7 |
6-163937974-A-T | QKI | c.403-18040A>T | - | IntronicSNV | - | 3/7 |
7-150026169-C-A | LRRC61 | c.-145+5520C>A | - | intron_variant | - | 1/1 |
7-150026169-C-G | LRRC61 | c.-145+5520C>G | - | intron_variant | - | 1/1 |
8-142200760-C-T | DENND3 | c.3178+244C>T | - | intron_variant | - | 20/22 |
8-144663075-G-A | EEF1D | c.1488+149C>T | - | IntronicSNV | - | 7/9 |
21-39633445-T-A | KCNJ15 | c.-117+4338T>A | - | intron_variant | - | 2/3 |
12-109968848-T-C | UBE3B | c.2922+385T>C | - | IntronicSNV | - | 26/27 |
6-160235336-A-T | PNLDC1 | c.962+648A>T | - | IntronicSNV | - | 12/18 |
7-128692710-C-G | TNPO3 | c.120+1995G>C | - | IntronicSNV | - | 1/22 |
1-160969110-T-C | F11R | c.815+76A>G | - | IntronicSNV | - | 8/9 |
6-136958233-G-A | MAP3K5 | c.2016+230C>T | - | IntronicSNV | - | 14/29 |
17-9818970-T-A | GAS7 | c.*1575A>T | - | 3-UTRSNV | 10/10 | - |
11-64129722-G-A | RPS6KA4 | c.906+248G>A | - | IntronicSNV | - | 8/16 |
12-121685784-T-C | CAMKK2 | c.1452+625A>G | - | IntronicSNV | - | 14/15 |
22-43290583-T-C | PACSIN2 | c.61-964A>G | - | IntronicSNV | - | 2/10 |
10-100151189-T-A | PYROXD2 | c.1063-350A>T | - | IntronicSNV | - | 10/15 |
10-100151189-T-C | PYROXD2 | c.1063-350A>G | - | IntronicSNV | - | 10/15 |
7-128619415-T-A | TNPO3 | c.1921-238A>T | - | IntronicSNV | - | 15/22 |
1-154243115-C-A | UBAP2L | c.*344C>A | - | 3-UTRSNV | 27/27 | - |
7-150026169-C-T | LRRC61 | c.-145+5520C>T | - | intron_variant | - | 1/1 |
16-3634746-C-A | SLX4 | c.4739+24G>T | - | IntronicSNV | - | 13/14 |
1-150623221-C-T | GOLPH3L | c.431-1997G>A | - | IntronicSNV | - | 4/4 |
16-352736-G-A | AXIN1 | c.1254+1568C>T | - | IntronicSNV | - | 5/10 |
17-74286173-A-T | QRICH2 | c.3215-15T>A | - | IntronicSNV | - | 4/18 |
17-80901750-C-T | B3GNTL1 | c.*200G>A | - | 3_prime_UTR_variant | 13/13 | - |
1-17422226-C-T | PADI2 | c.411+178G>A | - | IntronicSNV | - | 4/15 |
5-112380060-A-C | MCC | c.2656-733T>G | - | IntronicSNV | - | 16/18 |
5-134223593-A-G | TXNDC15 | c.312A>G | p.Lys104Lys | Synonymous | 2/5 | - |
17-80901750-C-G | B3GNTL1 | c.*200G>C | - | 3_prime_UTR_variant | 13/13 | - |
1-160977831-G-A | F11R | c.65-6688C>T | - | IntronicSNV | - | 1/9 |
6-163894122-C-T | QKI | c.286-5690C>T | - | IntronicSNV | - | 2/7 |
19-4353174-A-G | MPND | c.664+148A>G | - | IntronicSNV | - | 4/11 |
19-45787046-G-A | MARK4 | c.1276+3054G>A | - | IntronicSNV | - | 12/17 |
10-16558290-C-T | C1QL3 | c.589-1584G>A | - | IntronicSNV | - | 1/1 |
5-112380843-C-T | MCC | c.2656-1516G>A | - | IntronicSNV | - | 16/18 |
4-15706790-T-A | BST1 | c.189-348T>A | - | IntronicSNV | - | 1/8 |
19-16189583-C-T | TPM4 | c.132+2076C>T | - | IntronicSNV | - | 1/7 |
19-16189583-C-A | TPM4 | c.132+2076C>A | - | IntronicSNV | - | 1/7 |
2-61523554-T-G | USP34 | c.4254+381A>C | - | IntronicSNV | - | 30/79 |
22-31099927-C-T | OSBP2 | c.644+8387C>T | - | IntronicSNV | - | 1/13 |
20-60311201-T-C | CDH4 | c.170-7418T>C | - | IntronicSNV | - | 2/15 |
2-144467759-G-C | ARHGAP15 | c.1244+6666G>C | - | IntronicSNV | - | 13/13 |
9-34232465-T-A | UBAP1 | c.227-1749T>A | - | IntronicSNV | - | 1/5 |
1-161075230-C-T | PFDN2 | c.76-3065G>A | - | IntronicSNV | - | 1/3 |
16-66843950-C-A | NAE1 | c.1150+327G>T | - | IntronicSNV | - | 15/19 |
5-169362010-C-T | DOCK2 | c.2800-48062C>T | - | IntronicSNV | - | 27/51 |
2-3511044-C-A | ADI1 | c.241-6280G>T | - | IntronicSNV | - | 2/3 |
19-985815-T-G | WDR18 | c.211-50T>G | - | IntronicSNV | - | 1/9 |
11-93407769-A-T | CEP295 | c.529-968A>T | - | IntronicSNV | - | 5/29 |
10-97529318-C-T | ENTPD1 | c.16+13306C>T | - | IntronicSNV | - | 1/9 |
7-128614613-C-T | TNPO3 | c.2273+309G>A | - | IntronicSNV | - | 18/22 |
12-121167387-C-T | ACADS | c.210+2395C>T | - | IntronicSNV | - | 2/9 |
11-126078600-C-A | RPUSD4 | c.557+816G>T | - | IntronicSNV | - | 3/6 |
11-64010085-A-T | FKBP2 | c.171+55A>T | - | IntronicSNV | - | 2/5 |
5-131820997-G-T | IRF1 | c.717+362C>A | - | IntronicSNV | - | 8/9 |
5-131820997-G-A | IRF1 | c.717+362C>T | - | IntronicSNV | - | 8/9 |
9-131584631-C-T | ENDOG | c.636C>T | p.Tyr212Tyr | Synonymous | 3/3 | - |
1-11898130-T-A | CLCN6 | c.2296-262T>A | - | IntronicSNV | - | 20/22 |
19-49956690-C-T | ALDH16A1 | c.90+12C>T | - | IntronicSNV | - | 1/16 |
14-92339850-G-A | FBLN5 | c.1186-3121C>T | - | IntronicSNV | - | 10/10 |
7-128589427-G-A | IRF5 | c.*555G>A | - | 3-UTRSNV | 9/9 | - |
3-25666582-T-C | TOP2B | c.2210-288A>G | - | IntronicSNV | - | 18/35 |
16-55536687-A-G | MMP2 | c.1620-4A>G | - | IntronicSNV | - | 11/12 |
19-55548558-G-T | GP6 | c.34+1013C>A | - | IntronicSNV | - | 1/7 |
13-114527772-C-T | GAS6 | c.1478-1249G>A | - | IntronicSNV | - | 12/14 |
1-11854671-C-A | MTHFR | c.1167-76G>T | - | IntronicSNV | - | 7/11 |
22-42463814-C-G | NAGA | c.279G>C | p.Pro93Pro | Synonymous | 3/9 | - |
19-55574907-G-A | RDH13 | c.-149+757C>T | - | intron_variant | - | 2/7 |
22-42463814-C-T | NAGA | c.279G>A | p.Pro93Pro | Synonymous | 3/9 | - |
1-12062361-C-G | MFN2 | c.1160+201C>G | - | IntronicSNV | - | 11/18 |
16-56379792-C-T | GNAO1 | c.724-5504C>T | - | IntronicSNV | - | 6/8 |
10-76046923-G-A | ADK | c.195-27502G>A | - | IntronicSNV | - | 3/10 |
6-163943488-G-T | QKI | c.403-12526G>T | - | IntronicSNV | - | 3/7 |
10-100172252-C-T | PYROXD2 | c.128-1537G>A | - | IntronicSNV | - | 1/15 |
21-47590975-T-C | SPATC1L | c.1-2672A>G | - | IntronicSNV | - | 1/3 |
1-11879685-C-T | CLCN6 | c.346+74C>T | - | IntronicSNV | - | 5/22 |
11-118895202-A-G | SLC37A4 | c.*418T>C | - | 3_prime_UTR_variant | 10/10 | - |
10-134087990-A-G | STK32C | c.263-28531T>C | - | IntronicSNV | - | 1/11 |
18-77725625-G-C | HSBP1L1 | c.51+839G>C | - | IntronicSNV | - | 1/3 |
16-55549397-C-A | LPCAT2 | c.171+6133C>A | - | IntronicSNV | - | 1/13 |
16-56510299-A-C | OGFOD1 | c.*182A>C | - | 3-UTRSNV | 13/13 | - |
10-100148951-G-A | PYROXD2 | c.1293-686C>T | - | IntronicSNV | - | 12/15 |
16-68591230-A-T | ZFP90 | c.34-671A>T | - | IntronicSNV | - | 2/4 |
16-68591230-A-C | ZFP90 | c.34-671A>C | - | IntronicSNV | - | 2/4 |
2-113415164-G-C | SLC20A1 | c.778+346G>C | - | IntronicSNV | - | 6/10 |
19-49943778-G-A | SLC17A7 | c.62+797C>T | - | IntronicSNV | - | 1/11 |
20-3193893-A-C | ITPA | c.124+21A>C | - | IntronicSNV | - | 2/7 |
4-41956313-A-G | TMEM33 | c.*97A>G | - | 3-UTRSNV | 7/7 | - |
1-152081921-G-C | TCHH | c.3772C>G | p.Leu1258Val | Missense | 3/3 | - |
4-130030652-A-G | C4orf33 | c.319A>G | p.Met107Val | Missense | 5/6 | - |
7-128655918-C-T | TNPO3 | c.396-729G>A | - | IntronicSNV | - | 3/22 |
8-125517960-T-G | TATDN1 | c.517-1372A>C | - | IntronicSNV | - | 8/11 |
12-113350796-G-T | OAS1 | c.654+1756G>T | - | IntronicSNV | - | 3/5 |
7-6070563-G-A | EIF2AK1 | c.1333-1900C>T | - | IntronicSNV | - | 11/14 |
1-160922751-C-T | ITLN2 | c.80-228G>A | - | IntronicSNV | - | 2/7 |
8-145631197-A-C | CPSF1 | c.144+3202T>G | - | IntronicSNV | - | 2/37 |
5-151185433-T-C | G3BP1 | c.*1781T>C | - | IntergenicSNV | 12/12 | - |
22-19504470-T-C | CDC45 | c.1636+54T>C | - | IntronicSNV | - | 17/18 |
5-35861068-T-C | IL7R | c.197T>C | p.Ile66Thr | Missense | 2/8 | - |
5-178147408-G-A | ZNF354A | c.256+4969C>T | - | IntronicSNV | - | 4/4 |
10-100171571-A-G | PYROXD2 | c.128-856T>C | - | IntronicSNV | - | 1/15 |
5-96099958-C-T | ERAP1 | c.2819-1026G>A | - | IntronicSNV | - | 19/19 |
8-135577008-G-T | ZFAT | c.2940+568C>A | - | IntronicSNV | - | 12/16 |
4-26959207-T-C | STIM2 | c.283-27T>C | - | IntronicSNV | - | 2/11 |
16-55555887-G-A | LPCAT2 | c.172-3533G>A | - | IntronicSNV | - | 1/13 |
16-55555887-G-T | LPCAT2 | c.172-3533G>T | - | IntronicSNV | - | 1/13 |
14-73493259-G-C | ZFYVE1 | c.-435+375C>G | - | intron_variant | - | 1/11 |
5-96100764-G-A | ERAP1 | c.2819-1832C>T | - | IntronicSNV | - | 19/19 |
5-96100764-G-C | ERAP1 | c.2819-1832C>G | - | IntronicSNV | - | 19/19 |
10-100179274-C-A | HPS1 | c.1857+528G>T | - | IntronicSNV | - | 18/19 |
10-100179274-C-T | HPS1 | c.1857+528G>A | - | IntronicSNV | - | 18/19 |
7-128686338-C-T | TNPO3 | c.120+8367G>A | - | IntronicSNV | - | 1/22 |
6-163895174-G-C | QKI | c.286-4638G>C | - | IntronicSNV | - | 2/7 |
6-163895174-G-A | QKI | c.286-4638G>A | - | IntronicSNV | - | 2/7 |
15-52850352-T-A | ARPP19 | c.46-933A>T | - | IntronicSNV | - | 1/2 |
7-139656609-C-T | TBXAS1 | c.689-824C>T | - | intron_variant | - | 7/12 |
1-207297680-T-A | C4BPA | c.675T>A | p.Gly225Gly | Synonymous | 6/12 | - |
14-25102160-C-T | GZMB | c.164G>A | p.Arg55Gln | Missense | 2/5 | - |
17-45774072-T-C | TBKBP1 | c.226-5T>C | - | IntronicSNV | - | 1/8 |
12-9878089-G-T | CLECL1 | c.317-2680C>A | - | IntronicSNV | - | 1/1 |
16-2986323-T-C | FLYWCH1 | c.1511-799T>C | - | IntronicSNV | - | 6/9 |
20-62614338-A-G | PRPF6 | c.72-62A>G | - | IntronicSNV | - | 1/20 |
5-112383275-G-A | MCC | c.2655+1515C>T | - | IntronicSNV | - | 16/18 |
5-180285668-G-A | ZFP62 | c.-172+2551C>T | - | intron_variant | - | 1/2 |
4-99993376-A-G | ADH5 | c.*192T>C | - | 3-UTRSNV | 9/9 | - |
1-160723256-A-G | SLAMF7 | c.*289A>G | - | 3-UTRSNV | 7/7 | - |
7-128603292-G-C | TNPO3 | c.2711+4042C>G | - | IntronicSNV | - | 21/22 |
7-128603292-G-T | TNPO3 | c.2711+4042C>A | - | IntronicSNV | - | 21/22 |
1-11858324-G-A | MTHFR | c.587-1868C>T | - | IntronicSNV | - | 4/11 |
6-163986482-A-G | QKI | c.935-1271A>G | - | IntronicSNV | - | 6/7 |
19-19359500-C-A | NCAN | c.3638-9C>A | - | IntronicSNV | - | 13/14 |
3-122419292-A-G | PARP14 | c.1891A>G | p.Thr631Ala | Missense | 6/17 | - |
2-202017860-G-T | CFLAR | c.793+3302G>T | - | IntronicSNV | - | 8/9 |
14-104251006-C-A | PPP1R13B | c.277+126G>T | - | IntronicSNV | - | 3/16 |
6-163998310-T-G | QKI | c.*6568T>G | - | 3-UTRSNV | 8/8 | - |
1-207509365-C-T | CD55 | c.854-673C>T | - | IntronicSNV | - | 6/9 |
2-9985670-T-C | TAF1B | c.117+223T>C | - | IntronicSNV | - | 2/14 |
16-56531185-C-T | BBS2 | c.1798-194G>A | - | IntronicSNV | - | 14/16 |
6-163899415-G-C | QKI | c.286-397G>C | - | IntronicSNV | - | 2/7 |
11-64013406-G-A | PPP1R14B | c.258+482C>T | - | IntronicSNV | - | 1/3 |
17-7016239-C-A | ASGR2 | c.67+1254G>T | - | IntronicSNV | - | 1/7 |
19-49403677-G-C | NUCB1 | c.-12+48G>C | - | intron_variant | - | 1/12 |
10-100151799-A-T | PYROXD2 | c.1062+390T>A | - | IntronicSNV | - | 10/15 |
12-113406945-T-A | OAS3 | c.3105-468T>A | - | IntronicSNV | - | 14/15 |
19-19640524-T-C | YJEFN3 | c.209+202T>C | - | IntronicSNV | - | 2/6 |
2-114653871-A-G | ACTR3 | c.44+5971A>G | - | IntronicSNV | - | 1/11 |
11-61551927-A-C | MYRF | c.3180+70A>C | - | IntronicSNV | - | 24/25 |
7-45139892-G-A | TBRG4 | c.*32C>T | - | 3-UTRSNV | 9/9 | - |
11-62126494-A-G | ASRGL1 | c.491+1878A>G | - | IntronicSNV | - | 4/6 |
5-102437711-T-C | GIN1 | c.639+2534A>G | - | IntronicSNV | - | 4/7 |
17-25832414-A-G | KSR1 | c.-181+21537A>G | - | intron_variant | - | 2/21 |
5-96114550-G-A | ERAP1 | c.2670+1577C>T | - | IntronicSNV | - | 18/19 |
11-64118126-C-T | CCDC88B | c.2863-506C>T | - | IntronicSNV | - | 16/26 |
19-42489516-A-C | ATP1A3 | c.666T>G | p.Thr222Thr | Synonymous | 7/23 | - |
12-110950376-T-C | RAD9B | c.389-208T>C | - | IntronicSNV | - | 4/11 |
22-17594886-T-C | IL17RA | c.*4176T>C | - | 3-UTRSNV | 13/13 | - |
19-42489516-A-T | ATP1A3 | c.666T>A | p.Thr222Thr | Synonymous | 7/23 | - |
22-45810049-C-T | RIBC2 | c.129+153C>T | - | intron_variant | - | 1/7 |
16-55564797-C-T | LPCAT2 | c.642+938C>T | - | IntronicSNV | - | 4/13 |
5-112312736-G-C | DCP2 | c.53+53G>C | - | IntronicSNV | - | 1/10 |
4-122609929-T-C | ANXA5 | c.10-2402A>G | - | IntronicSNV | - | 2/12 |
1-169665551-G-A | SELL | c.1100+125C>T | - | intron_variant | - | 8/8 |
22-42985310-G-A | POLDIP3 | c.1022-1732C>T | - | IntronicSNV | - | 7/8 |
12-56630764-G-A | SLC39A5 | c.1257G>A | p.Ala419Ala | Synonymous | 11/13 | - |
19-44029031-G-C | ETHE1 | c.375+1322C>G | - | IntronicSNV | - | 3/6 |
17-74014468-C-A | EVPL | c.1439+59G>T | - | IntronicSNV | - | 12/21 |
19-5777415-T-C | CATSPERD | c.2097-972T>C | - | IntronicSNV | - | 21/21 |
2-144428608-C-G | ARHGAP15 | c.1139-32380C>G | - | IntronicSNV | - | 12/13 |
6-163912700-G-A | QKI | c.402+12772G>A | - | IntronicSNV | - | 3/7 |
10-6621773-T-C | PRKCQ | c.-10+400A>G | - | intron_variant | - | 1/17 |
1-3761772-C-T | CEP104 | c.489+81G>A | - | IntronicSNV | - | 5/21 |
2-234339999-A-G | DGKD | c.217-3027A>G | - | IntronicSNV | - | 2/28 |
12-48578809-T-A | CCDC184 | c.*319T>A | - | 3-UTRSNV | 1/1 | - |
12-48578809-T-C | CCDC184 | c.*319T>C | - | 3-UTRSNV | 1/1 | - |
6-44139869-C-T | CAPN11 | c.410-170C>T | - | IntronicSNV | - | 4/22 |
20-34414318-C-T | PHF20 | c.84-16177C>T | - | IntronicSNV | - | 2/17 |
8-56924349-T-G | LYN | c.*1680T>G | - | 3-UTRSNV | 13/13 | - |
16-89934886-A-G | SPIRE2 | c.1806+262A>G | - | IntronicSNV | - | 13/14 |
7-128672645-C-T | TNPO3 | c.121-14434G>A | - | IntronicSNV | - | 1/22 |
7-128672645-C-G | TNPO3 | c.121-14434G>C | - | IntronicSNV | - | 1/22 |
13-24876070-C-T | SPATA13 | c.1784-666C>T | - | IntronicSNV | - | 11/11 |
9-123800094-T-A | C5 | c.492+65A>T | - | IntronicSNV | - | 4/40 |
16-56451482-T-C | AMFR | c.256-3226A>G | - | IntronicSNV | - | 1/13 |
10-100168248-G-A | PYROXD2 | c.148-494C>T | - | IntronicSNV | - | 2/15 |
20-49514013-T-C | ADNP | c.202-2964A>G | - | IntronicSNV | - | 3/3 |
12-113381956-C-T | OAS3 | c.461-325C>T | - | IntronicSNV | - | 2/15 |
1-17422302-T-C | PADI2 | c.411+102A>G | - | IntronicSNV | - | 4/15 |
13-52328844-T-A | WDFY2 | c.832-650T>A | - | IntronicSNV | - | 8/11 |
5-1103495-T-C | SLC12A7 | c.124+8488A>G | - | IntronicSNV | - | 1/23 |
5-131725329-T-A | SLC22A5 | c.1052+616T>A | - | IntronicSNV | - | 6/9 |
1-25629943-A-C | RHD | c.932A>C | p.Tyr311Ser | Missense | 6/10 | - |
1-25629943-A-G | RHD | c.932A>G | p.Tyr311Cys | Missense | 6/10 | - |
11-34918375-A-G | APIP | c.58-1718T>C | - | IntronicSNV | - | 1/6 |
12-14658341-A-G | PLBD1 | c.1479+755T>C | - | IntronicSNV | - | 10/10 |
2-219097738-G-A | ARPC2 | c.223-1337G>A | - | IntronicSNV | - | 3/9 |
7-141801007-C-T | MGAM | c.5275+317C>T | - | IntronicSNV | - | 45/47 |
12-122158662-C-G | TMEM120B | c.69+7792C>G | - | IntronicSNV | - | 1/11 |
16-55614447-A-G | LPCAT2 | c.1450+1291A>G | - | IntronicSNV | - | 13/13 |
6-163997673-C-T | QKI | c.*5931C>T | - | 3-UTRSNV | 8/8 | - |
6-33032975-T-C | HLA-DPA1 | c.*162A>G | - | 3_prime_UTR_variant | 5/5 | - |
1-160978574-A-G | F11R | c.65-7431T>C | - | IntronicSNV | - | 1/9 |
11-688312-G-A | DEAF1 | c.517+19C>T | - | IntronicSNV | - | 3/11 |
19-16189583-C-G | TPM4 | c.132+2076C>G | - | IntronicSNV | - | 1/7 |
19-4350311-T-C | MPND | c.532-2583T>C | - | IntronicSNV | - | 3/11 |
1-150729793-G-A | CTSS | c.249+541C>T | - | IntronicSNV | - | 3/7 |
1-28261902-C-A | SMPDL3B | c.61+147C>A | - | IntronicSNV | - | 1/7 |
5-156620013-C-G | ITK | c.138+11887C>G | - | IntronicSNV | - | 1/16 |
17-5126674-A-G | SCIMP | c.99T>C | p.Gly33Gly | Synonymous | 2/5 | - |
3-16362129-G-T | RFTN1 | c.1332+2754C>A | - | IntronicSNV | - | 9/9 |
1-11876417-C-T | CLCN6 | c.214-255C>T | - | IntronicSNV | - | 3/22 |
10-99123006-T-C | RRP12 | c.3567+605A>G | - | IntronicSNV | - | 30/33 |
3-126255878-C-A | CHST13 | c.180+682C>A | - | IntronicSNV | - | 2/2 |
21-47689734-G-A | MCM3AP | c.2628+581C>T | - | IntronicSNV | - | 9/27 |
21-47689734-G-C | MCM3AP | c.2628+581C>G | - | IntronicSNV | - | 9/27 |
12-9905271-A-G | CD69 | c.*806T>C | - | 3-UTRSNV | 5/5 | - |
16-55521725-G-T | MMP2 | c.683-730G>T | - | IntronicSNV | - | 5/12 |
22-43018587-C-G | CYB5R3 | c.733+1208G>C | - | IntronicSNV | - | 8/8 |
10-90753748-T-C | FAS | c.30+3085T>C | - | IntronicSNV | - | 1/8 |
1-25674785-C-T | TMEM50A | c.207-3332C>T | - | IntronicSNV | - | 3/6 |
6-167437988-C-T | FGFR1OP | c.807-282C>T | - | IntronicSNV | - | 8/12 |
18-72188347-T-C | CNDP2 | c.*1044T>C | - | 3-UTRSNV | 12/12 | - |
7-134841239-G-A | TMEM140 | c.1-7955G>A | - | IntronicSNV | - | 1/1 |
16-56484820-C-T | NUDT21 | c.116+179G>A | - | IntronicSNV | - | 1/6 |
17-33570441-C-A | SLFN5 | c.-41+279C>A | - | intron_variant | - | 1/4 |
8-124440174-A-G | WDYHV1 | c.94A>G | p.Ile32Val | Missense | 2/6 | - |
6-163934616-T-A | QKI | c.403-21398T>A | - | IntronicSNV | - | 3/7 |
18-12350505-C-A | AFG3L2 | c.1552+579G>T | - | IntronicSNV | - | 12/16 |
6-163908942-A-T | QKI | c.402+9014A>T | - | IntronicSNV | - | 3/7 |
12-6554628-G-A | CD27 | c.175G>A | p.Ala59Thr | Missense | 2/6 | - |
1-160965688-A-G | F11R | c.*2973T>C | - | 3-UTRSNV | 10/10 | - |
17-73372243-G-A | GRB2 | c.78+17389C>T | - | IntronicSNV | - | 2/5 |
6-163913182-C-T | QKI | c.402+13254C>T | - | IntronicSNV | - | 3/7 |
11-838419-A-T | CD151 | c.*227A>T | - | 3-UTRSNV | 9/9 | - |
2-172780132-T-C | HAT1 | c.7+1115T>C | - | IntronicSNV | - | 1/10 |
4-120146383-T-A | USP53 | c.-543+7555T>A | - | intron_variant | - | 3/17 |
19-44023153-T-A | ETHE1 | c.375+7200A>T | - | IntronicSNV | - | 3/6 |
19-44023153-T-G | ETHE1 | c.375+7200A>C | - | IntronicSNV | - | 3/6 |
7-128633722-T-C | TNPO3 | c.1266+139A>G | - | IntronicSNV | - | 9/22 |
20-62651978-G-A | PRPF6 | c.1648-2132G>A | - | IntronicSNV | - | 12/20 |
1-156255456-G-A | TMEM79 | c.439G>A | p.Val147Met | Missense | 2/4 | - |
5-96122210-C-T | ERAP1 | c.1723G>A | p.Asp575Asn | Missense | 12/20 | - |
15-90379632-C-A | AP3S2 | c.454-757G>T | - | IntronicSNV | - | 5/5 |
12-9833628-C-T | CLEC2D | c.171C>T | p.Ser57Ser | Synonymous | 2/5 | - |
16-56412526-T-A | AMFR | c.1380+7305A>T | - | IntronicSNV | - | 10/13 |
20-5174600-G-A | CDS2 | c.*3720G>A | - | 3-UTRSNV | 13/13 | - |
11-9270810-C-G | DENND5A | c.109+15698G>C | - | IntronicSNV | - | 1/22 |
7-128596563-C-T | TNPO3 | c.*746G>A | - | IntronicSNV | 23/23 | - |
5-112349379-T-C | DCP2 | c.*198T>C | - | 3-UTRSNV | 11/11 | - |
4-6611813-T-C | MAN2B2 | c.2259+36T>C | - | IntronicSNV | - | 13/18 |
3-49276077-C-T | CCDC36 | c.231+1922C>T | - | IntronicSNV | - | 5/9 |
6-163940075-A-G | QKI | c.403-15939A>G | - | IntronicSNV | - | 3/7 |
19-1051214-A-G | ABCA7 | c.2745A>G | p.Val915Val | Synonymous | 20/47 | - |
16-15850204-A-G | MYH11 | c.1764T>C | p.Ala588Ala | Synonymous | 15/43 | - |
3-41925398-C-T | ULK4 | c.1624G>A | p.Ala542Thr | Missense | 17/37 | - |
3-41925398-C-G | ULK4 | c.1624G>C | p.Ala542Pro | Missense | 17/37 | - |
12-105602676-C-A | APPL2 | c.374-699G>T | - | IntronicSNV | - | 5/20 |
22-39747780-G-A | SYNGR1 | c.99+1666G>A | - | IntronicSNV | - | 1/3 |
22-39747780-G-T | SYNGR1 | c.99+1666G>T | - | IntronicSNV | - | 1/3 |
6-2838102-G-A | SERPINB1 | c.424+14C>T | - | IntronicSNV | - | 4/6 |
6-2838102-G-C | SERPINB1 | c.424+14C>G | - | IntronicSNV | - | 4/6 |
6-163926038-G-T | QKI | c.402+26110G>T | - | IntronicSNV | - | 3/7 |
1-6550505-C-T | PLEKHG5 | c.-88+1192G>A | - | intron_variant | - | 1/20 |
19-4352959-A-G | MPND | c.597A>G | p.Ala199Ala | Synonymous | 4/12 | - |
5-35876274-A-G | IL7R | c.1066A>G | p.Ile356Val | Missense | 8/8 | - |
3-50004209-G-A | RBM6 | c.45-694G>A | - | IntronicSNV | - | 2/20 |
19-3762698-C-A | MRPL54 | c.1-1C>A | - | 5-UTRSNV | 1/3 | - |
2-32894470-G-C | TTC27 | c.939+2635G>C | - | IntronicSNV | - | 7/19 |
22-51063477-T-C | ARSA | c.*96A>G | - | 3-UTRSNV | 8/8 | - |
1-160967455-T-C | F11R | c.*1206A>G | - | 3-UTRSNV | 10/10 | - |
11-63908720-C-G | MACROD1 | c.517+9991G>C | - | IntronicSNV | - | 3/10 |
17-56440542-G-T | RNF43 | c.582+94C>A | - | IntronicSNV | - | 5/9 |
19-52885104-A-T | ZNF880 | c.269-1998A>T | - | IntronicSNV | - | 3/3 |
2-219146882-G-T | TMBIM1 | c.1-18C>A | - | 5-UTRSNV | 2/12 | - |
7-80298887-T-C | CD36 | c.749-382T>C | - | IntronicSNV | - | 8/13 |
1-11851003-G-C | MTHFR | c.1753-48C>G | - | IntronicSNV | - | 11/11 |
1-11898130-T-C | CLCN6 | c.2296-262T>C | - | IntronicSNV | - | 20/22 |
9-132568500-C-T | TOR1B | c.466-967C>T | - | IntronicSNV | - | 2/4 |
9-123771799-T-C | C5 | c.2258-1023A>G | - | IntronicSNV | - | 17/40 |
16-56543558-A-G | BBS2 | c.612+311T>C | - | IntronicSNV | - | 5/16 |
11-129692580-G-A | TMEM45B | c.-9+6787G>A | - | intron_variant | - | 1/5 |
7-128599397-C-T | TNPO3 | c.2712-2028G>A | - | IntronicSNV | - | 21/22 |
3-39448581-T-G | RPSA | c.-34+326T>G | - | intron_variant | - | 1/6 |
12-122628429-T-A | MLXIP | c.*2070T>A | - | 3_prime_UTR_variant | 17/17 | - |
12-122628429-T-C | MLXIP | c.*2070T>C | - | 3_prime_UTR_variant | 17/17 | - |
9-123161934-C-T | CDK5RAP2 | c.5451+1086G>A | - | IntronicSNV | - | 35/37 |
16-89355278-A-G | ANKRD11 | c.602-200T>C | - | IntronicSNV | - | 6/12 |
2-234380666-C-T | DGKD | c.*2560C>T | - | 3-UTRSNV | 29/29 | - |
5-112359020-A-G | MCC | c.*3979T>C | - | 3-UTRSNV | 19/19 | - |
16-56404703-C-T | AMFR | c.1381-1464G>A | - | IntronicSNV | - | 10/13 |
16-28837515-T-G | ATXN2L | c.466-46T>G | - | IntronicSNV | - | 4/21 |
16-28837515-T-C | ATXN2L | c.466-46T>C | - | IntronicSNV | - | 4/21 |
16-28549823-A-C | NUPR1 | c.112+294T>G | - | IntronicSNV | - | 1/2 |
2-86253508-A-T | POLR1A | c.*1038T>A | - | 3-UTRSNV | 34/34 | - |
16-72132713-C-T | DHX38 | c.764+22C>T | - | IntronicSNV | - | 5/26 |
9-98691104-T-C | ERCC6L2 | c.1742T>C | p.Phe581Ser | Missense | 11/14 | - |
7-102957156-G-A | DNAJC2 | c.1268+121C>T | - | IntronicSNV | - | 11/14 |
19-19370917-C-T | HAPLN4 | c.484+705G>A | - | IntronicSNV | - | 3/4 |
1-89474818-A-G | GBP3 | c.1471T>C | p.Cys491Arg | Missense | 10/11 | - |
8-142201402-T-G | DENND3 | c.3178+886T>G | - | intron_variant | - | 20/22 |
2-29039575-T-C | SPDYA | c.235+460T>C | - | IntronicSNV | - | 3/7 |
2-3516085-C-G | ADI1 | c.240+1543G>C | - | IntronicSNV | - | 2/3 |
4-76817412-G-A | PPEF2 | c.55+12C>T | - | IntronicSNV | - | 2/16 |
20-34442672-A-G | PHF20 | c.341-3552A>G | - | IntronicSNV | - | 4/17 |
16-55527113-G-A | MMP2 | c.1230G>A | p.Thr410Thr | Synonymous | 9/13 | - |
16-55527113-G-C | MMP2 | c.1230G>C | p.Thr410Thr | Synonymous | 9/13 | - |
12-662838-T-A | B4GALNT3 | c.1749T>A | p.Pro583Pro | Synonymous | 14/20 | - |
4-159588976-A-C | C4orf46 | c.*1789T>G | - | 3-UTRSNV | 2/2 | - |
3-47296921-T-C | KIF9 | c.1059+2052A>G | - | IntronicSNV | - | 11/21 |
20-34429974-G-A | PHF20 | c.84-521G>A | - | IntronicSNV | - | 2/17 |
1-112259272-T-C | RAP1A | c.*4249T>C | - | 3_prime_UTR_variant | 8/8 | - |
1-111742714-A-G | DENND2D | c.68-294T>C | - | IntronicSNV | - | 1/11 |
1-111742714-A-T | DENND2D | c.68-294T>A | - | IntronicSNV | - | 1/11 |
1-205552105-G-T | MFSD4A | c.691-978G>T | - | IntronicSNV | - | 3/9 |
2-219146882-G-C | TMBIM1 | c.1-18C>G | - | 5-UTRSNV | 2/12 | - |
16-15845100-G-C | MYH11 | c.1886-912C>G | - | IntronicSNV | - | 16/42 |
15-82454283-A-G | EFL1 | c.1882+1911T>C | - | IntronicSNV | - | 16/19 |
19-3208827-A-G | NCLN | c.*1141A>G | - | 3-UTRSNV | 15/15 | - |
17-42113807-T-C | LSM12 | c.496-139A>G | - | IntronicSNV | - | 5/5 |
1-161019040-G-A | ARHGAP30 | c.1771C>T | p.Leu591Leu | Synonymous | 12/13 | - |
1-161019040-G-T | ARHGAP30 | c.1771C>A | p.Leu591Met | Missense | 12/13 | - |
15-81543469-G-A | IL16 | c.313-8644G>A | - | IntronicSNV | - | 2/18 |
12-112520883-C-T | NAA25 | c.403-1945G>A | - | IntronicSNV | - | 4/23 |
8-144675048-G-A | EEF1D | c.-131-2140C>T | - | intron_variant | - | 1/9 |
19-54962694-A-G | LENG8 | c.38+135A>G | - | IntronicSNV | - | 2/15 |
16-84209864-G-C | DNAAF1 | c.2024G>C | p.Ser675Thr | Missense | 11/12 | - |
6-163876100-G-A | QKI | c.143-211G>A | - | IntronicSNV | - | 1/7 |
6-163876100-G-T | QKI | c.143-211G>T | - | IntronicSNV | - | 1/7 |
5-131825842-T-G | IRF1 | c.-6+395A>C | - | intron_variant | - | 1/9 |
17-74278548-G-C | QRICH2 | c.3514-352C>G | - | IntronicSNV | - | 7/18 |
6-133015662-C-T | VNN1 | c.342-341G>A | - | IntronicSNV | - | 2/6 |
11-64010085-A-G | FKBP2 | c.171+55A>G | - | IntronicSNV | - | 2/5 |
16-372597-A-G | AXIN1 | c.879-7914T>C | - | IntronicSNV | - | 2/10 |
5-139941228-A-T | APBB3 | c.712T>A | p.Cys238Ser | Missense | 8/13 | - |
5-139941228-A-G | APBB3 | c.712T>C | p.Cys238Arg | Missense | 8/13 | - |
16-56404703-C-G | AMFR | c.1381-1464G>C | - | IntronicSNV | - | 10/13 |
12-50055342-C-A | FMNL3 | c.452+407G>T | - | IntronicSNV | - | 5/25 |
2-145183072-G-C | ZEB2 | c.332-638C>G | - | IntronicSNV | - | 3/9 |
14-24768449-G-T | DHRS1 | c.1-137C>A | - | 5-UTRSNV | 1/9 | - |
3-192629447-T-A | MB21D2 | c.211+5972A>T | - | IntronicSNV | - | 1/1 |
5-94800234-C-T | TTC37 | c.*77G>A | - | 3-UTRSNV | 43/43 | - |
5-96139066-C-T | ERAP1 | c.524+40G>A | - | IntronicSNV | - | 2/19 |
10-100152373-T-G | PYROXD2 | c.928-50A>C | - | IntronicSNV | - | 9/15 |
11-64012784-G-A | PPP1R14B | c.259-25C>T | - | IntronicSNV | - | 1/3 |
15-90814664-C-G | NGRN | c.520C>G | p.Leu174Val | Missense | 3/3 | - |
12-6563848-C-G | TAPBPL | c.565+966C>G | - | IntronicSNV | - | 3/6 |
1-3761772-C-G | CEP104 | c.489+81G>C | - | IntronicSNV | - | 5/21 |
16-55614197-G-A | LPCAT2 | c.1450+1041G>A | - | IntronicSNV | - | 13/13 |
16-55536622-C-T | MMP2 | c.1620-69C>T | - | IntronicSNV | - | 11/12 |
5-112356649-G-A | DCP2 | c.*7468G>A | - | 3-UTRSNV | 11/11 | - |
12-12714102-T-C | DUSP16 | c.-366+949A>G | - | intron_variant | - | 1/6 |
1-160969930-A-G | F11R | c.591+6T>C | - | IntronicSNV | - | 5/9 |
17-9820141-C-T | GAS7 | c.*404G>A | - | 3-UTRSNV | 10/10 | - |
2-144428608-C-T | ARHGAP15 | c.1139-32380C>T | - | IntronicSNV | - | 12/13 |
8-30568635-C-T | GSR | c.333+944G>A | - | IntronicSNV | - | 2/12 |
11-118895686-C-T | SLC37A4 | c.1224G>A | - | synonymous_variant | 10/10 | - |
2-160637324-A-G | LY75-CD302 | c.5218+69T>C | - | IntronicSNV | - | 36/38 |
17-73372243-G-C | GRB2 | c.78+17389C>G | - | IntronicSNV | - | 2/5 |
4-8222157-T-C | SH3TC1 | c.1112+900T>C | - | IntronicSNV | - | 9/17 |
14-23067931-C-T | ABHD4 | c.23+693C>T | - | IntronicSNV | - | 1/6 |
20-42230695-T-C | IFT52 | c.208-1705T>C | - | IntronicSNV | - | 3/13 |
1-150678071-G-T | HORMAD1 | c.804+958C>A | - | IntronicSNV | - | 10/14 |
16-55565706-C-A | LPCAT2 | c.643-120C>A | - | IntronicSNV | - | 4/13 |
19-14695336-G-A | CLEC17A | c.121+1090G>A | - | IntronicSNV | - | 2/12 |
14-100834982-T-A | WARS | c.99+442A>T | - | IntronicSNV | - | 2/10 |
11-63885305-C-G | FLRT1 | c.1566C>G | p.Pro522Pro | Synonymous | 2/2 | - |
17-29627297-G-C | NF1 | c.4773-25541G>C | - | IntronicSNV | - | 35/56 |
10-121660400-A-C | SEC23IP | c.697-1911A>C | - | IntronicSNV | - | 2/18 |
6-163919209-C-T | QKI | c.402+19281C>T | - | IntronicSNV | - | 3/7 |
12-56929344-C-T | RBMS2 | c.66+13471C>T | - | IntronicSNV | - | 1/13 |
2-238664010-G-A | LRRFIP1 | c.583-728G>A | - | IntronicSNV | - | 7/9 |
18-9121883-A-T | NDUFV2 | c.301-628A>T | - | IntronicSNV | - | 4/7 |
20-34445164-G-A | PHF20 | c.341-1060G>A | - | IntronicSNV | - | 4/17 |
6-163954075-A-G | QKI | c.403-1939A>G | - | IntronicSNV | - | 3/7 |
19-49949589-A-T | PIH1D1 | c.*50T>A | - | 3-UTRSNV | 9/9 | - |
18-23755158-T-C | PSMA8 | c.496-3636T>C | - | IntronicSNV | - | 4/6 |
9-123746796-T-C | C5 | c.3231-1704A>G | - | IntronicSNV | - | 25/40 |
20-34248066-C-T | RBM12 | c.-107-1130G>A | - | intron_variant | - | 1/2 |
19-47003906-C-T | PPP5D1 | c.358-19209G>A | - | IntronicSNV | - | 3/3 |
6-163899415-G-T | QKI | c.286-397G>T | - | IntronicSNV | - | 2/7 |
6-3319871-T-C | SLC22A23 | c.239+4197A>G | - | IntronicSNV | - | 5/10 |
7-27997214-G-C | JAZF1 | c.188+34314C>G | - | IntronicSNV | - | 2/4 |
14-102369625-T-C | PPP2R5C | c.1023+1399T>C | - | IntronicSNV | - | 9/13 |
10-100171371-G-C | PYROXD2 | c.128-656C>G | - | IntronicSNV | - | 1/15 |
11-63910153-C-A | MACROD1 | c.517+8558G>T | - | IntronicSNV | - | 3/10 |
9-139316916-G-T | PMPCA | c.1408+488G>T | - | IntronicSNV | - | 12/12 |
1-111742714-A-C | DENND2D | c.68-294T>G | - | IntronicSNV | - | 1/11 |
6-163920254-A-G | QKI | c.402+20326A>G | - | IntronicSNV | - | 3/7 |
7-128597587-T-G | TNPO3 | c.2712-218A>C | - | IntronicSNV | - | 21/22 |
5-96101959-C-T | ERAP1 | c.2819-3027G>A | - | IntronicSNV | - | 19/19 |
9-139746992-G-A | MAMDC4 | c.46+78G>A | - | IntronicSNV | - | 1/26 |
15-79236933-A-G | CTSH | c.91+300T>C | - | IntronicSNV | - | 1/11 |
21-38520720-G-A | TTC3 | c.2017-126G>A | - | IntronicSNV | - | 22/45 |
19-36217957-A-G | KMT2B | c.4004-100A>G | - | IntronicSNV | - | 14/36 |
15-99910749-C-T | LRRC28 | c.1031+7279C>T | - | IntronicSNV | - | 9/9 |
5-96126308-A-G | ERAP1 | c.1359T>C | p.Ser453Ser | Synonymous | 9/20 | - |
7-133557070-T-C | EXOC4 | c.1735-23282T>C | - | IntronicSNV | - | 11/17 |
10-100155963-T-C | PYROXD2 | c.626-754A>G | - | IntronicSNV | - | 6/15 |
20-2833237-T-G | VPS16 | c.54-7128T>G | - | IntronicSNV | - | 1/23 |
7-128605594-A-C | TNPO3 | c.2711+1740T>G | - | IntronicSNV | - | 21/22 |
12-14653867-C-G | ATF7IP | c.*2860C>G | - | IntergenicSNV | 15/15 | - |
12-14653867-C-A | ATF7IP | c.*2860C>A | - | IntergenicSNV | 15/15 | - |
11-61623140-C-T | FADS2 | c.745-1343C>T | - | IntronicSNV | - | 5/11 |
10-100159136-A-T | PYROXD2 | c.471+723T>A | - | IntronicSNV | - | 5/15 |
7-139719184-G-A | TBXAS1 | c.1528-641G>A | - | intron_variant | - | 12/12 |
14-94554550-T-G | IFI27L1 | c.-52+6755T>G | - | intron_variant | - | 1/4 |
6-163914511-C-T | QKI | c.402+14583C>T | - | IntronicSNV | - | 3/7 |
11-10040135-G-A | SBF2 | c.619+9864C>T | - | IntronicSNV | - | 6/39 |
11-10040135-G-C | SBF2 | c.619+9864C>G | - | IntronicSNV | - | 6/39 |
9-132596071-C-T | C9orf78 | c.144-83G>A | - | IntronicSNV | - | 2/8 |
14-92340901-A-T | FBLN5 | c.1185+2930T>A | - | IntronicSNV | - | 10/10 |
8-142201612-C-T | DENND3 | c.3179-818C>T | - | intron_variant | - | 20/22 |
13-75873787-G-A | TBC1D4 | c.2912-77C>T | - | IntronicSNV | - | 16/20 |
6-26375419-A-C | BTN3A2 | c.*824A>C | - | IntronicSNV | 9/9 | - |
6-26375419-A-G | BTN3A2 | c.*824A>G | - | IntronicSNV | 9/9 | - |
2-182388628-A-G | ITGA4 | c.2170-270A>G | - | IntronicSNV | - | 19/27 |
7-156442035-T-C | RNF32 | c.274+4584T>C | - | IntronicSNV | - | 3/8 |
9-123161735-A-G | CDK5RAP2 | c.5451+1285T>C | - | IntronicSNV | - | 35/37 |
4-6200070-A-T | JAKMIP1 | c.-148+1910T>A | - | intron_variant | - | 1/12 |
4-6200070-A-G | JAKMIP1 | c.-148+1910T>C | - | intron_variant | - | 1/12 |
11-126087949-C-T | FAM118B | c.-77+6224C>T | - | intron_variant | - | 1/8 |
11-74481631-T-C | RNF169 | c.503-19040T>C | - | IntronicSNV | - | 1/5 |
5-112314453-A-G | DCP2 | c.53+1770A>G | - | IntronicSNV | - | 1/10 |
2-219151926-T-C | TMBIM1 | c.1-5062A>G | - | IntronicSNV | - | 1/11 |
10-100163120-A-C | PYROXD2 | c.316-3106T>G | - | IntronicSNV | - | 4/15 |
5-96134175-T-G | ERAP1 | c.664-1163A>C | - | IntronicSNV | - | 3/19 |
19-52250761-A-G | FPR1 | c.1-514T>C | - | IntronicSNV | - | 1/1 |
7-101916798-C-A | CUX1 | c.1383+34C>A | - | IntronicSNV | - | 15/22 |
11-124545088-T-G | SPA17 | c.1-73T>G | - | IntronicSNV | 1/5 | - |
3-133558096-G-C | RAB6B | c.401+254C>G | - | IntronicSNV | - | 5/7 |
2-191216109-T-A | INPP1 | c.-65+2352T>A | - | intron_variant | - | 2/6 |
6-133073173-C-T | VNN2 | c.538-2169G>A | - | IntronicSNV | - | 3/4 |
16-81987458-A-T | PLCG2 | c.3571-2842A>T | - | IntronicSNV | - | 31/32 |
12-113381217-A-G | OAS3 | c.461-1064A>G | - | IntronicSNV | - | 2/15 |
1-79095581-T-C | IFI44L | c.704T>C | p.Ile235Thr | Missense | 4/9 | - |
1-79095581-T-A | IFI44L | c.704T>A | p.Ile235Asn | Missense | 4/9 | - |
7-45110951-C-A | CCM2 | c.746-1374C>A | - | IntronicSNV | - | 6/9 |
10-100176869-C-T | HPS1 | c.*452G>A | - | 3-UTRSNV | 20/20 | - |
7-75984532-G-A | YWHAG | c.87+3507C>T | - | IntronicSNV | - | 1/1 |
16-55618451-A-T | LPCAT2 | c.*1441A>T | - | 3-UTRSNV | 14/14 | - |
16-55618451-A-G | LPCAT2 | c.*1441A>G | - | 3-UTRSNV | 14/14 | - |
5-131824486-A-C | IRF1 | c.87+598T>G | - | IntronicSNV | - | 2/9 |
16-56401294-T-C | AMFR | c.1599+62A>G | - | IntronicSNV | - | 12/13 |
6-36948246-C-T | MTCH1 | c.406+1118G>A | - | IntronicSNV | - | 2/11 |
11-749776-C-T | TALDO1 | c.97+2198C>T | - | IntronicSNV | - | 1/7 |
10-100167015-A-T | PYROXD2 | c.315+324T>A | - | IntronicSNV | - | 4/15 |
5-96293929-G-A | LNPEP | c.20-20913G>A | - | IntronicSNV | - | 1/17 |
5-96293929-G-T | LNPEP | c.20-20913G>T | - | IntronicSNV | - | 1/17 |
1-109709032-G-A | KIAA1324 | c.467+1719G>A | - | IntronicSNV | - | 3/21 |
11-43775734-A-G | HSD17B12 | c.283+63A>G | - | IntronicSNV | - | 3/10 |
14-104137643-A-G | KLC1 | c.987+1023A>G | - | IntronicSNV | - | 7/14 |
11-126072294-C-T | RPUSD4 | c.*1019G>A | - | 3-UTRSNV | 7/7 | - |
9-124913734-G-A | NDUFA8 | c.215+790C>T | - | IntronicSNV | - | 2/3 |
15-76589495-G-A | ETFA | c.40-1417C>T | - | IntronicSNV | - | 1/11 |
1-150958977-T-C | ANXA9 | c.552+86T>C | - | IntronicSNV | - | 8/13 |
7-156750695-G-A | NOM1 | c.1309-1850G>A | - | IntronicSNV | - | 3/10 |
7-128689413-C-T | TNPO3 | c.120+5292G>A | - | IntronicSNV | - | 1/22 |
1-151844650-G-C | THEM4 | c.*2714C>G | - | 3-UTRSNV | 6/6 | - |
19-5125446-G-T | KDM4B | c.1315+5583G>T | - | IntronicSNV | - | 11/22 |
6-163921266-G-A | QKI | c.402+21338G>A | - | IntronicSNV | - | 3/7 |
6-30888161-T-C | VARS2 | c.1345T>C | p.Trp449Arg | Missense | 14/30 | - |
10-100165496-C-A | PYROXD2 | c.315+1843G>T | - | IntronicSNV | - | 4/15 |
19-42262891-G-A | CEACAM6 | c.424+2024G>A | - | IntronicSNV | - | 2/5 |
10-100177049-G-A | HPS1 | c.*272C>T | - | 3-UTRSNV | 20/20 | - |
10-100148353-C-G | PYROXD2 | c.1293-88G>C | - | IntronicSNV | - | 12/15 |
10-100148353-C-A | PYROXD2 | c.1293-88G>T | - | IntronicSNV | - | 12/15 |
20-5947608-G-A | MCM8 | c.876-474G>A | - | IntronicSNV | - | 8/18 |
11-108068954-T-C | NPAT | c.38-807A>G | - | IntronicSNV | - | 1/17 |
17-74705876-A-C | MXRA7 | c.342+811T>G | - | IntronicSNV | - | 1/4 |
10-100144782-C-G | PYROXD2 | c.1597G>C | p.Ala533Pro | Missense | 15/16 | - |
11-72499035-T-C | STARD10 | c.-114+4885A>G | - | intron_variant | - | 1/6 |
13-115007089-A-G | CDC16 | c.382-507A>G | - | IntronicSNV | - | 5/18 |
4-880094-T-C | GAK | c.1206-2220A>G | - | IntronicSNV | - | 11/27 |
19-42262891-G-T | CEACAM6 | c.424+2024G>T | - | IntronicSNV | - | 2/5 |
11-68030173-C-A | C11orf24 | c.290G>T | p.Gly97Val | Missense | 4/4 | - |
11-44098985-G-A | ACCS | c.654+59G>A | - | IntronicSNV | - | 7/14 |
3-183653937-G-A | ABCC5 | c.3854+1752C>T | - | IntronicSNV | - | 26/29 |
3-183653937-G-T | ABCC5 | c.3854+1752C>A | - | IntronicSNV | - | 26/29 |
6-36363923-A-C | PXT1 | c.301-4272T>G | - | IntronicSNV | - | 4/4 |
17-18154510-T-C | FLII | c.1596+69A>G | - | IntronicSNV | - | 13/29 |
16-56510299-A-T | OGFOD1 | c.*182A>T | - | 3-UTRSNV | 13/13 | - |
12-131288292-T-C | STX2 | c.464-2259A>G | - | IntronicSNV | - | 6/10 |
4-6697673-T-C | S100P | c.139-947T>C | - | IntronicSNV | - | 1/1 |
5-112350707-G-A | DCP2 | c.*1526G>A | - | 3-UTRSNV | 11/11 | - |
21-40716410-T-C | HMGN1 | c.255+662A>G | - | IntronicSNV | - | 5/5 |
1-150618961-T-G | GOLPH3L | c.*1836A>C | - | 3-UTRSNV | 5/5 | - |
11-8639994-G-C | TRIM66 | c.3591+303C>G | - | IntronicSNV | - | 19/19 |
7-75255748-G-C | HIP1 | c.121-27183C>G | - | IntronicSNV | - | 1/30 |
19-44301425-G-A | LYPD5 | c.*318C>T | - | 3-UTRSNV | 5/5 | - |
3-75796728-A-T | ZNF717 | c.58-5841T>A | - | IntronicSNV | - | 2/4 |
12-113357237-G-T | OAS1 | c.1039-55G>T | - | IntronicSNV | - | 5/5 |
12-113357237-G-C | OAS1 | c.1039-55G>C | - | IntronicSNV | - | 5/5 |
4-99998335-A-G | ADH5 | c.345-261T>C | - | IntronicSNV | - | 4/8 |
10-16485699-G-T | PTER | c.-128+6653G>T | - | intron_variant | - | 1/5 |
10-16485699-G-A | PTER | c.-128+6653G>A | - | intron_variant | - | 1/5 |
10-100147097-G-A | PYROXD2 | c.1448-33C>T | - | IntronicSNV | - | 13/15 |
7-28750479-T-C | CREB5 | c.444-7891T>C | - | IntronicSNV | - | 5/10 |
1-11854896-G-A | MTHFR | c.1056C>T | p.Ser352Ser | Synonymous | 7/12 | - |
17-6530904-T-C | KIAA0753 | c.718+533A>G | - | IntronicSNV | - | 3/18 |
8-22750817-G-A | PEBP4 | c.258+26880C>T | - | IntronicSNV | - | 3/6 |
6-163916957-C-T | QKI | c.402+17029C>T | - | IntronicSNV | - | 3/7 |
22-37580442-A-T | C1QTNF6 | c.289+816T>A | - | IntronicSNV | - | 2/3 |
22-37580442-A-C | C1QTNF6 | c.289+816T>G | - | IntronicSNV | - | 2/3 |
22-37580442-A-G | C1QTNF6 | c.289+816T>C | - | IntronicSNV | - | 2/3 |
5-131822072-A-G | IRF1 | c.545-7T>C | - | IntronicSNV | - | 6/9 |
21-47294221-T-C | PCBP3 | c.11-21901T>C | - | IntronicSNV | - | 1/12 |
11-61600342-A-C | FADS2 | c.207+4273A>C | - | IntronicSNV | - | 1/11 |
16-55594811-T-C | LPCAT2 | c.1215+9797T>C | - | IntronicSNV | - | 11/13 |
19-36230174-T-C | IGFLR1 | c.*7A>G | - | 3-UTRSNV | 5/5 | - |
1-11890695-C-T | CLCN6 | c.1248+1316C>T | - | IntronicSNV | - | 13/22 |
1-2167149-C-T | SKI | c.969+5975C>T | - | IntronicSNV | - | 1/6 |
17-48535914-C-T | ACSF2 | c.129-2124C>T | - | IntronicSNV | - | 1/15 |
16-87749634-C-A | KLHDC4 | c.760-1455G>T | - | IntronicSNV | - | 7/11 |
14-92340901-A-G | FBLN5 | c.1185+2930T>C | - | IntronicSNV | - | 10/10 |
9-130191186-C-T | ZNF79 | c.92C>T | p.Thr31Ile | Missense | 2/5 | - |
5-112319041-C-T | DCP2 | c.54-2491C>T | - | IntronicSNV | - | 1/10 |
6-31119589-G-T | CCHCR1 | c.535-690C>A | - | IntronicSNV | - | 4/17 |
7-8218798-G-A | ICA1 | c.580-20516C>T | - | IntronicSNV | - | 6/13 |
7-150438330-G-A | GIMAP1-GIMAP5 | c.655+315G>A | - | IntronicSNV | - | 5/5 |
11-63849812-C-G | MACROD1 | c.518-67059G>C | - | IntronicSNV | - | 3/10 |
10-100174561-C-A | PYROXD2 | c.127+205G>T | - | IntronicSNV | - | 1/15 |
2-101612568-C-T | NPAS2 | c.*524C>T | - | 3-UTRSNV | 21/21 | - |
12-31240960-G-T | DDX11 | c.684+43G>T | - | IntronicSNV | - | 6/26 |
12-31240960-G-A | DDX11 | c.684+43G>A | - | IntronicSNV | - | 6/26 |
10-100182285-T-C | HPS1 | c.1599-15A>G | - | IntronicSNV | - | 16/19 |
15-90814664-C-T | NGRN | c.520C>T | p.Leu174Phe | Missense | 3/3 | - |
2-85510018-G-A | TCF7L1 | c.442-600G>A | - | IntronicSNV | - | 3/11 |
2-85510018-G-T | TCF7L1 | c.442-600G>T | - | IntronicSNV | - | 3/11 |
20-25489692-G-C | NINL | c.517+1618C>G | - | IntronicSNV | - | 5/23 |
4-965779-G-A | DGKQ | c.272-919C>T | - | IntronicSNV | - | 1/22 |
1-152081921-G-T | TCHH | c.3772C>A | p.Leu1258Met | Missense | 3/3 | - |
7-99637242-G-A | ZKSCAN1 | c.*5422G>A | - | IntergenicSNV | 6/6 | - |
1-44195302-C-A | ST3GAL3 | c.1-6632C>A | - | IntronicSNV | - | 1/12 |
9-77705570-T-C | OSTF1 | c.34+1928T>C | - | IntronicSNV | - | 1/9 |
19-49943778-G-C | SLC17A7 | c.62+797C>G | - | IntronicSNV | - | 1/11 |
10-114148689-C-T | ACSL5 | c.140-5987C>T | - | IntronicSNV | - | 1/20 |
6-163994956-T-C | QKI | c.*3214T>C | - | 3-UTRSNV | 8/8 | - |
10-114148689-C-G | ACSL5 | c.140-5987C>G | - | IntronicSNV | - | 1/20 |
20-35280268-T-C | NDRG3 | c.*1655A>G | - | 3-UTRSNV | 15/15 | - |
7-80299850-T-A | CD36 | c.819-443T>A | - | IntronicSNV | - | 9/13 |
16-21184277-A-G | TMEM159 | c.266-1054A>G | - | IntronicSNV | - | 3/4 |
16-55523011-T-C | MMP2 | c.856+383T>C | - | IntronicSNV | - | 6/12 |
5-96131483-G-T | ERAP1 | c.799-618C>A | - | IntronicSNV | - | 4/19 |
12-58124534-C-G | AGAP2 | c.1300+40G>C | - | IntronicSNV | - | 11/17 |
12-57492996-G-A | STAT6 | c.1891+81C>T | - | IntronicSNV | - | 16/21 |
1-161011355-G-C | USF1 | c.472+86C>G | - | IntronicSNV | - | 6/10 |
12-93863895-A-T | MRPL42 | c.70+764A>T | - | IntronicSNV | - | 2/5 |
12-93863895-A-G | MRPL42 | c.70+764A>G | - | IntronicSNV | - | 2/5 |
12-104345957-A-C | C12orf73 | c.109-549T>G | - | IntronicSNV | - | 2/2 |
16-55603188-A-G | LPCAT2 | c.1216-5355A>G | - | IntronicSNV | - | 11/13 |
1-11873869-G-A | CLCN6 | c.148-2034G>A | - | IntronicSNV | - | 2/22 |
1-11873869-G-T | CLCN6 | c.148-2034G>T | - | IntronicSNV | - | 2/22 |
1-175102161-G-A | TNN | c.3331-2820G>A | - | IntronicSNV | - | 15/18 |
6-29645038-C-A | ZFP57 | c.1-258G>T | - | IntergenicSNV | 2/5 | - |
1-28233289-G-A | RPA2 | c.333+150C>T | - | IntronicSNV | - | 4/8 |
6-153333883-C-T | RGS17 | c.445-986G>A | - | IntronicSNV | - | 4/4 |
18-77725625-G-A | HSBP1L1 | c.51+839G>A | - | IntronicSNV | - | 1/3 |
6-29645038-C-T | ZFP57 | c.1-258G>A | - | IntergenicSNV | 2/5 | - |
16-56468561-C-T | NUDT21 | c.547+105G>A | - | IntronicSNV | - | 5/6 |
16-55564010-C-A | LPCAT2 | c.642+151C>A | - | IntronicSNV | - | 4/13 |
16-55564010-C-T | LPCAT2 | c.642+151C>T | - | IntronicSNV | - | 4/13 |
12-6747578-G-C | ACRBP | c.1510-8C>G | - | IntronicSNV | - | 9/9 |
16-55550490-G-A | LPCAT2 | c.171+7226G>A | - | IntronicSNV | - | 1/13 |
15-66817545-G-T | ZWILCH | c.819+1459G>T | - | IntronicSNV | - | 8/18 |
15-66817545-G-A | ZWILCH | c.819+1459G>A | - | IntronicSNV | - | 8/18 |
1-3766240-A-G | CEP104 | c.114-895T>C | - | IntronicSNV | - | 2/21 |
19-3198777-A-G | NCLN | c.616-38A>G | - | IntronicSNV | - | 4/14 |
19-3198777-A-C | NCLN | c.616-38A>C | - | IntronicSNV | - | 4/14 |
6-163927784-A-G | QKI | c.402+27856A>G | - | IntronicSNV | - | 3/7 |
16-55567712-T-G | LPCAT2 | c.763-643T>G | - | IntronicSNV | - | 6/13 |
13-50291611-A-T | KPNA3 | c.771+2300T>A | - | IntronicSNV | - | 10/16 |
7-133557070-T-G | EXOC4 | c.1735-23282T>G | - | IntronicSNV | - | 11/17 |
5-112336588-C-T | DCP2 | c.433-193C>T | - | IntronicSNV | - | 4/10 |
20-34438059-C-T | PHF20 | c.340+2703C>T | - | IntronicSNV | - | 4/17 |
22-19881556-A-G | TXNRD2 | c.949+1374T>C | - | IntronicSNV | - | 11/17 |
7-128654840-T-A | TNPO3 | c.552+193A>T | - | IntronicSNV | - | 4/22 |
5-176867276-T-C | GRK6 | c.1405-425T>C | - | IntronicSNV | - | 13/15 |
1-160979060-C-G | F11R | c.65-7917G>C | - | IntronicSNV | - | 1/9 |
19-49956690-C-A | ALDH16A1 | c.90+12C>A | - | IntronicSNV | - | 1/16 |
5-131819921-C-A | IRF1 | c.853+133G>T | - | IntronicSNV | - | 9/9 |
5-131819921-C-T | IRF1 | c.853+133G>A | - | IntronicSNV | - | 9/9 |
16-56458487-C-T | AMFR | c.255+498G>A | - | IntronicSNV | - | 1/13 |
10-73745476-C-T | CHST3 | c.1-20125C>T | - | IntronicSNV | - | 1/2 |
6-34845648-T-C | TAF11 | c.*719A>G | - | 3-UTRSNV | 5/5 | - |
10-100157368-C-T | PYROXD2 | c.472-113G>A | - | IntronicSNV | - | 5/15 |
3-57275145-A-G | APPL1 | c.373+565A>G | - | IntronicSNV | - | 5/21 |
2-121041314-A-G | RALB | c.115-2136A>G | - | IntronicSNV | - | 2/4 |
5-77339846-G-A | AP3B1 | c.2431-4748C>T | - | IntronicSNV | - | 22/26 |
5-77339846-G-T | AP3B1 | c.2431-4748C>A | - | IntronicSNV | - | 22/26 |
2-238801297-C-T | RAMP1 | c.191+15293C>T | - | IntronicSNV | - | 2/2 |
20-25359150-G-T | ABHD12 | c.191+11999C>A | - | IntronicSNV | - | 1/12 |
20-25359150-G-C | ABHD12 | c.191+11999C>G | - | IntronicSNV | - | 1/12 |
7-128658739-G-C | TNPO3 | c.121-528C>G | - | IntronicSNV | - | 1/22 |
20-3851951-T-C | MAVS | c.*5157T>C | - | 3-UTRSNV | 7/7 | - |
1-180899683-G-C | KIAA1614 | c.1205+1974G>C | - | IntronicSNV | - | 4/8 |
10-100169465-C-T | PYROXD2 | c.147+1231G>A | - | IntronicSNV | - | 2/15 |
1-169854113-T-C | SCYL3 | c.165+3704A>G | - | IntronicSNV | - | 2/13 |
3-58186719-C-A | DNASE1L3 | c.546+5G>T | - | IntronicSNV | - | 5/7 |
8-144413416-G-T | TOP1MT | c.216C>A | p.Asp72Glu | Missense | 2/14 | - |
17-76485661-A-G | DNAH17 | c.6818+1120T>C | - | IntronicSNV | - | 44/80 |
7-128585104-A-G | IRF5 | c.196-795A>G | - | IntronicSNV | - | 2/8 |
1-11897592-A-G | CLCN6 | c.2295+36A>G | - | IntronicSNV | - | 20/22 |
4-57136542-C-T | KIAA1211 | c.1-27854C>T | - | IntronicSNV | - | 2/10 |
19-39435485-G-C | FBXO17 | c.693+124C>G | - | IntronicSNV | - | 5/5 |
7-128630313-T-C | TNPO3 | c.1359-159A>G | - | IntronicSNV | - | 10/22 |
18-34436370-C-T | KIAA1328 | c.332+12105C>T | - | IntronicSNV | - | 4/9 |
20-34446395-A-G | PHF20 | c.420+92A>G | - | IntronicSNV | - | 5/17 |
22-20087539-A-G | DGCR8 | c.1689+5221A>G | - | IntronicSNV | - | 8/12 |
14-76653626-T-C | GPATCH2L | c.1193+6434T>C | - | IntronicSNV | - | 8/9 |
11-63896591-G-C | MACROD1 | c.517+22120C>G | - | IntronicSNV | - | 3/10 |
9-123172282-C-G | CDK5RAP2 | c.4415-688G>C | - | IntronicSNV | - | 29/37 |
6-163932424-C-G | QKI | c.403-23590C>G | - | IntronicSNV | - | 3/7 |
6-163932424-C-T | QKI | c.403-23590C>T | - | IntronicSNV | - | 3/7 |
20-34388806-G-A | PHF20 | c.1-639G>A | - | IntronicSNV | - | 1/17 |
20-34388806-G-T | PHF20 | c.1-639G>T | - | IntronicSNV | - | 1/17 |
22-42907619-T-C | RRP7A | c.*1297A>G | - | 3-UTRSNV | 7/7 | - |
12-57919107-C-T | MBD6 | c.380-24C>T | - | IntronicSNV | - | 5/12 |
6-52228225-A-G | PAQR8 | c.-53+1178A>G | - | intron_variant | - | 1/1 |
10-100170762-C-T | PYROXD2 | c.128-47G>A | - | IntronicSNV | - | 1/15 |
1-11897592-A-C | CLCN6 | c.2295+36A>C | - | IntronicSNV | - | 20/22 |
1-115217727-G-C | AMPD1 | c.1779-234C>G | - | IntronicSNV | - | 12/15 |
7-101009749-C-A | COL26A1 | c.158+3278C>A | - | IntronicSNV | - | 1/13 |
7-101009749-C-T | COL26A1 | c.158+3278C>T | - | IntronicSNV | - | 1/13 |
16-55605476-C-T | LPCAT2 | c.1216-3067C>T | - | IntronicSNV | - | 11/13 |
14-24765063-A-T | DHRS1 | c.374+652T>A | - | IntronicSNV | - | 4/8 |
2-197065221-A-G | HECW2 | c.*780T>C | - | 3-UTRSNV | 29/29 | - |
9-137799385-C-T | FCN1 | c.*2259G>A | - | IntergenicSNV | 9/9 | - |
5-96129512-A-G | ERAP1 | c.1068T>C | p.Ala356Ala | Synonymous | 6/20 | - |
16-56458487-C-G | AMFR | c.255+498G>C | - | IntronicSNV | - | 1/13 |
5-112334857-C-T | DCP2 | c.433-1924C>T | - | IntronicSNV | - | 4/10 |
8-17914117-T-A | ASAH1 | c.*926A>T | - | 3-UTRSNV | 14/14 | - |
16-56442066-C-T | AMFR | c.514-38G>A | - | IntronicSNV | - | 3/13 |
8-30568635-C-G | GSR | c.333+944G>C | - | IntronicSNV | - | 2/12 |
8-30568635-C-A | GSR | c.333+944G>T | - | IntronicSNV | - | 2/12 |
7-75252714-T-C | HIP1 | c.121-24149A>G | - | IntronicSNV | - | 1/30 |
1-167707655-G-C | MPZL1 | c.91+16176G>C | - | IntronicSNV | - | 1/4 |
1-167707655-G-A | MPZL1 | c.91+16176G>A | - | IntronicSNV | - | 1/4 |
16-31326706-C-T | ITGAM | c.1708-5856C>T | - | IntronicSNV | - | 14/29 |
17-30659006-T-A | C17orf75 | c.976-9A>T | - | IntronicSNV | - | 9/9 |
17-30659006-T-G | C17orf75 | c.976-9A>C | - | IntronicSNV | - | 9/9 |
5-96109244-G-A | ERAP1 | c.2818+2864C>T | - | IntronicSNV | - | 19/19 |
3-111830213-C-T | C3orf52 | c.468-1598C>T | - | IntronicSNV | - | 4/5 |
20-5123615-A-G | CDS2 | c.57+15820A>G | - | IntronicSNV | - | 1/12 |
11-63814740-T-C | MACROD1 | c.518-31987A>G | - | IntronicSNV | - | 3/10 |
2-210748646-G-A | UNC80 | c.4101+2828G>A | - | IntronicSNV | - | 25/62 |
17-9820141-C-A | GAS7 | c.*404G>T | - | 3-UTRSNV | 10/10 | - |
17-73256533-T-C | GGA3 | c.40+1096A>G | - | IntronicSNV | - | 1/16 |
17-73256533-T-A | GGA3 | c.40+1096A>T | - | IntronicSNV | - | 1/16 |
1-26497340-A-C | ZNF593 | c.*133A>C | - | 3-UTRSNV | 3/3 | - |
4-47956278-A-T | CNGA1 | c.1-1560T>A | - | IntronicSNV | - | 3/10 |
16-55518610-C-A | MMP2 | c.379+534C>A | - | IntronicSNV | - | 3/12 |
16-55518610-C-T | MMP2 | c.379+534C>T | - | IntronicSNV | - | 3/12 |
19-8460534-T-G | RAB11B | c.41-4213T>G | - | IntronicSNV | - | 1/4 |
7-128684571-A-G | TNPO3 | c.120+10134T>C | - | IntronicSNV | - | 1/22 |
5-112323738-A-T | DCP2 | c.205+2055A>T | - | IntronicSNV | - | 2/10 |
19-41131675-C-G | LTBP4 | c.3920-87C>G | - | intron_variant | - | 30/33 |
1-40251816-A-G | BMP8B | c.334+2008T>C | - | IntronicSNV | - | 1/6 |
1-40251816-A-C | BMP8B | c.334+2008T>G | - | IntronicSNV | - | 1/6 |
1-40251816-A-T | BMP8B | c.334+2008T>A | - | IntronicSNV | - | 1/6 |
4-38781113-A-G | TLR10 | c.-63+3429T>C | - | intron_variant | - | 1/1 |
20-1118399-T-A | PSMF1 | c.551+2450T>A | - | IntronicSNV | - | 5/7 |
10-100144782-C-T | PYROXD2 | c.1597G>A | p.Ala533Thr | Missense | 15/16 | - |
12-6747295-G-A | ACRBP | c.*153C>T | - | 3-UTRSNV | 10/10 | - |
1-109723640-C-T | KIAA1324 | c.953-4027C>T | - | IntronicSNV | - | 7/21 |
10-100156227-G-T | PYROXD2 | c.625+875C>A | - | IntronicSNV | - | 6/15 |
10-100156227-G-A | PYROXD2 | c.625+875C>T | - | IntronicSNV | - | 6/15 |
7-77010130-G-T | GSAP | c.576+492C>A | - | IntronicSNV | - | 8/30 |
5-112368522-G-A | MCC | c.2757-3769C>T | - | IntronicSNV | - | 17/18 |
5-112368522-G-T | MCC | c.2757-3769C>A | - | IntronicSNV | - | 17/18 |
14-92583579-A-G | NDUFB1 | c.140+263T>C | - | intron_variant | - | 2/2 |
9-139638740-C-A | LCN6 | c.*48+51G>T | - | intron_variant | - | 6/6 |
11-63910153-C-T | MACROD1 | c.517+8558G>A | - | IntronicSNV | - | 3/10 |
10-100176339-A-G | HPS1 | c.*982T>C | - | 3-UTRSNV | 20/20 | - |
22-29904354-G-A | THOC5 | c.*92C>T | - | 3-UTRSNV | 20/20 | - |
1-239863474-G-T | CHRM3 | c.-147+21886G>T | - | intron_variant | - | 3/4 |
5-131819798-T-C | IRF1 | c.854-31A>G | - | IntronicSNV | - | 9/9 |
5-131819798-T-A | IRF1 | c.854-31A>T | - | IntronicSNV | - | 9/9 |
6-163987389-T-A | QKI | c.935-364T>A | - | IntronicSNV | - | 6/7 |
10-100173580-C-G | PYROXD2 | c.127+1186G>C | - | IntronicSNV | - | 1/15 |
1-239863474-G-A | CHRM3 | c.-147+21886G>A | - | intron_variant | - | 3/4 |
5-96140367-C-G | ERAP1 | c.1-738G>C | - | IntronicSNV | - | 1/19 |
5-96110211-A-T | ERAP1 | c.2818+1897T>A | - | IntronicSNV | - | 19/19 |
5-96140367-C-T | ERAP1 | c.1-738G>A | - | IntronicSNV | - | 1/19 |
21-46926054-T-C | COL18A1 | c.3756+174T>C | - | IntronicSNV | - | 36/40 |
20-33868702-T-C | EIF6 | c.194-70A>G | - | IntronicSNV | - | 3/6 |
12-110903380-G-C | GPN3 | c.49-361C>G | - | IntronicSNV | - | 1/7 |
12-110903380-G-A | GPN3 | c.49-361C>T | - | IntronicSNV | - | 1/7 |
3-49016056-A-G | ARIH2 | c.962-859A>G | - | IntronicSNV | - | 11/15 |
1-160989614-T-C | F11R | c.64+1186A>G | - | IntronicSNV | - | 1/9 |
11-810882-G-C | RPLP2 | c.123+525G>C | - | IntronicSNV | - | 2/4 |
11-810882-G-T | RPLP2 | c.123+525G>T | - | IntronicSNV | - | 2/4 |
6-163845530-A-C | QKI | c.142+9163A>C | - | IntronicSNV | - | 1/7 |
11-67794643-C-T | ALDH3B1 | c.1211-574C>T | - | intron_variant | - | 11/12 |
1-11899033-G-A | CLCN6 | c.2529+316G>A | - | IntronicSNV | - | 22/22 |
1-11899033-G-T | CLCN6 | c.2529+316G>T | - | IntronicSNV | - | 22/22 |
12-113319947-C-T | RPH3A | c.1314+296C>T | - | IntronicSNV | - | 14/20 |
4-68482401-T-C | UBA6 | c.*2314A>G | - | 3-UTRSNV | 33/33 | - |
17-79619226-C-G | PDE6G | c.147-511G>C | - | IntronicSNV | - | 2/3 |
10-100147813-G-T | PYROXD2 | c.1447+298C>A | - | IntronicSNV | - | 13/15 |
5-128314064-A-G | SLC27A6 | c.482-6762A>G | - | IntronicSNV | - | 2/10 |
5-128314064-A-T | SLC27A6 | c.482-6762A>T | - | IntronicSNV | - | 2/10 |
11-838722-T-C | CD151 | c.*530T>C | - | 3-UTRSNV | 9/9 | - |
14-25100282-A-G | GZMB | c.739T>C | p.Tyr247His | Missense | 5/5 | - |
9-34580894-G-C | CNTFR | c.-1+199C>G | - | intron_variant | - | 2/9 |
9-34580894-G-A | CNTFR | c.-1+199C>T | - | intron_variant | - | 2/9 |
4-83865485-C-T | LIN54 | c.1168+1926G>A | - | IntronicSNV | - | 5/12 |
1-36200778-T-C | CLSPN | c.*1319A>G | - | 3-UTRSNV | 25/25 | - |
1-231156029-A-G | FAM89A | c.292-157T>C | - | IntronicSNV | - | 1/1 |
1-169577333-A-T | SELP | c.1334-961T>A | - | IntronicSNV | - | 8/16 |
1-169577333-A-G | SELP | c.1334-961T>C | - | IntronicSNV | - | 8/16 |
1-156224304-T-C | SMG5 | c.2443-1005A>G | - | IntronicSNV | - | 16/21 |
5-96110211-A-C | ERAP1 | c.2818+1897T>G | - | IntronicSNV | - | 19/19 |
17-41230524-T-G | BRCA1 | c.4358-1893A>C | - | IntronicSNV | - | 12/22 |
3-20166937-C-G | KAT2B | c.1414-460C>G | - | IntronicSNV | - | 9/17 |
6-163975458-T-G | QKI | c.547-7556T>G | - | IntronicSNV | - | 4/7 |
1-161011716-G-A | USF1 | c.277-80C>T | - | IntronicSNV | - | 5/10 |
1-161011716-G-C | USF1 | c.277-80C>G | - | IntronicSNV | - | 5/10 |
16-55539191-C-G | MMP2 | c.1730-60C>G | - | IntronicSNV | - | 12/12 |
3-14993212-C-T | NR2C2 | c.-40+3799C>T | - | intron_variant | - | 1/14 |
7-6262115-T-C | CYTH3 | c.35-31953A>G | - | IntronicSNV | - | 1/12 |
7-6262115-T-A | CYTH3 | c.35-31953A>T | - | IntronicSNV | - | 1/12 |
16-23693770-T-G | PLK1 | c.816+292T>G | - | IntronicSNV | - | 4/9 |
3-20166937-C-A | KAT2B | c.1414-460C>A | - | IntronicSNV | - | 9/17 |
20-34245379-A-G | RBM12 | c.-23+1473T>C | - | intron_variant | - | 2/2 |
5-138167497-A-G | CTNNA1 | c.1062+4090A>G | - | IntronicSNV | - | 7/17 |
1-54679319-C-T | MRPL37 | c.990+988C>T | - | IntronicSNV | - | 5/6 |
21-38340843-C-T | HLCS | c.-392-6373G>A | - | intron_variant | - | 1/11 |
22-21983260-A-G | YDJC | c.602+39T>C | - | IntronicSNV | - | 4/4 |
5-96105043-C-T | ERAP1 | c.2819-6111G>A | - | IntronicSNV | - | 19/19 |
16-27251206-A-G | NSMCE1 | c.137-4586T>C | - | IntronicSNV | - | 2/7 |
7-127526038-C-T | SND1 | c.1344-1917C>T | - | IntronicSNV | - | 12/23 |
10-100155810-C-T | PYROXD2 | c.626-601G>A | - | IntronicSNV | - | 6/15 |
11-63979643-G-T | FERMT3 | c.786+424G>T | - | IntronicSNV | - | 6/14 |
4-39031842-C-T | TMEM156 | c.88+2004G>A | - | IntronicSNV | - | 1/6 |
19-51323501-A-T | KLK1 | c.405T>A | p.Asp135Glu | Missense | 3/5 | - |
10-100150148-G-C | PYROXD2 | c.1292+207C>G | - | IntronicSNV | - | 12/15 |
5-180682862-G-T | TRIM52 | c.*1553C>A | - | IntergenicSNV | 2/2 | - |
3-52864135-T-C | ITIH4 | c.90+434A>G | - | IntronicSNV | - | 1/23 |
20-1533205-T-C | SIRPD | c.74-521A>G | - | IntronicSNV | - | 1/3 |
19-9471736-C-T | ZNF559-ZNF177 | c.-249+3156C>T | - | intron_variant | - | 5/11 |
9-32457529-G-A | DDX58 | c.2482-113C>T | - | IntronicSNV | - | 17/17 |
7-139613072-A-G | TBXAS1 | c.333+1952A>G | - | intron_variant | - | 4/12 |
18-677931-C-G | ENOSF1 | c.919-59G>C | - | IntronicSNV | - | 12/15 |
11-8639200-T-C | TRIM66 | c.*291A>G | - | 3-UTRSNV | 20/20 | - |
12-113381695-A-C | OAS3 | c.461-586A>C | - | IntronicSNV | - | 2/15 |
11-77595080-C-T | INTS4 | c.2593-82G>A | - | IntronicSNV | - | 21/22 |
6-31136453-A-G | POU5F1 | c.405+1540T>C | - | IntronicSNV | - | 1/4 |
10-6622094-C-T | PRKCQ | c.-10+79G>A | - | intron_variant | - | 1/17 |
12-108944229-T-A | SART3 | c.313-1239A>T | - | IntronicSNV | - | 1/18 |
11-64081445-G-C | ESRRA | c.348G>C | p.Pro116Pro | Synonymous | 3/7 | - |
11-64081445-G-A | ESRRA | c.348G>A | p.Pro116Pro | Synonymous | 3/7 | - |
1-150675483-C-T | HORMAD1 | c.1032+303G>A | - | IntronicSNV | - | 13/14 |
16-55555887-G-C | LPCAT2 | c.172-3533G>C | - | IntronicSNV | - | 1/13 |
12-113424501-T-G | OAS2 | c.178-342T>G | - | IntronicSNV | - | 1/1 |
4-1685137-C-T | FAM53A | c.-165+548G>A | - | intron_variant | - | 1/4 |
16-3292896-C-T | MEFV | c.*245G>A | - | 3-UTRSNV | 10/10 | - |
4-1685137-C-G | FAM53A | c.-165+548G>C | - | intron_variant | - | 1/4 |
20-34427754-T-G | PHF20 | c.84-2741T>G | - | IntronicSNV | - | 2/17 |
10-100164215-G-T | PYROXD2 | c.315+3124C>A | - | IntronicSNV | - | 4/15 |
4-113193546-C-T | AP1AR | c.*3981C>T | - | IntergenicSNV | 10/10 | - |
4-178359719-A-G | AGA | c.507+180T>C | - | IntronicSNV | - | 4/8 |
19-19361735-G-A | NCAN | c.*1015G>A | - | 3-UTRSNV | 15/15 | - |
11-118250586-A-G | UBE4A | c.1897+121A>G | - | IntronicSNV | - | 11/19 |
16-55543878-T-A | LPCAT2 | c.171+614T>A | - | IntronicSNV | - | 1/13 |
12-56115883-T-C | RDH5 | c.569+152T>C | - | IntronicSNV | - | 3/4 |
22-43290583-T-G | PACSIN2 | c.61-964A>C | - | IntronicSNV | - | 2/10 |
22-43290583-T-A | PACSIN2 | c.61-964A>T | - | IntronicSNV | - | 2/10 |
9-123234422-C-T | CDK5RAP2 | c.1728-266G>A | - | IntronicSNV | - | 15/37 |
9-117070767-A-C | COL27A1 | c.5217+709A>C | - | IntronicSNV | - | 59/60 |
6-163936133-G-A | QKI | c.403-19881G>A | - | IntronicSNV | - | 3/7 |
8-66633039-G-A | PDE7A | c.1244-1309C>T | - | IntronicSNV | - | 12/12 |
22-42983782-C-A | POLDIP3 | c.1022-204G>T | - | IntronicSNV | - | 7/8 |
1-89637578-G-C | GBP7 | c.41C>G | p.Thr14Ser | Missense | 2/11 | - |
1-89637578-G-T | GBP7 | c.41C>A | p.Thr14Asn | Missense | 2/11 | - |
1-151961575-T-C | S100A10 | c.1-2869A>G | - | IntronicSNV | - | 1/2 |
14-74412034-T-C | FAM161B | c.375-446A>G | - | intron_variant | - | 2/8 |
19-11420000-C-T | TSPAN16 | c.603+2568C>T | - | IntronicSNV | - | 5/6 |
10-70589892-A-G | STOX1 | c.310+2202A>G | - | IntronicSNV | - | 1/3 |
21-47591782-T-A | SPATC1L | c.1-3479A>T | - | IntronicSNV | - | 1/3 |
21-47591782-T-C | SPATC1L | c.1-3479A>G | - | IntronicSNV | - | 1/3 |
12-6569983-C-T | TAPBPL | c.1208-38C>T | - | IntronicSNV | - | 5/6 |
12-6569983-C-G | TAPBPL | c.1208-38C>G | - | IntronicSNV | - | 5/6 |
10-100169472-C-T | PYROXD2 | c.147+1224G>A | - | IntronicSNV | - | 2/15 |
22-21139242-C-T | SERPIND1 | c.1163+709C>T | - | IntronicSNV | - | 3/4 |
16-55602395-C-T | LPCAT2 | c.1216-6148C>T | - | IntronicSNV | - | 11/13 |
7-28748869-T-A | CREB5 | c.444-9501T>A | - | IntronicSNV | - | 5/10 |
1-152079989-T-G | TCHH | c.5704A>C | p.Lys1902Gln | Missense | 3/3 | - |
6-26467531-A-G | BTN2A1 | c.983-645A>G | - | IntronicSNV | - | 7/7 |
16-55617202-G-T | LPCAT2 | c.*192G>T | - | 3-UTRSNV | 14/14 | - |
4-129862073-C-T | SCLT1 | c.1632+2078G>A | - | IntronicSNV | - | 17/20 |
2-75762367-T-A | EVA1A | c.-191-12754A>T | - | intron_variant | - | 1/3 |
6-163932893-C-T | QKI | c.403-23121C>T | - | IntronicSNV | - | 3/7 |
4-47955758-T-C | CNGA1 | c.1-1040A>G | - | IntronicSNV | - | 3/10 |
7-128630227-C-T | TNPO3 | c.1359-73G>A | - | IntronicSNV | - | 10/22 |
16-56387469-A-G | GNAO1 | c.878-1309A>G | - | IntronicSNV | - | 7/8 |
20-34252654-A-G | RBM12 | c.-108+28T>C | - | intron_variant | - | 1/2 |
3-195519857-C-G | MUC4 | c.83-1489G>C | - | IntronicSNV | - | 1/24 |
3-195519857-C-T | MUC4 | c.83-1489G>A | - | IntronicSNV | - | 1/24 |
7-157163614-A-C | DNAJB6 | c.346+3437A>C | - | IntronicSNV | - | 5/7 |
14-24609147-T-C | EMC9 | c.276-324A>G | - | IntronicSNV | - | 3/5 |
7-80301936-C-A | CD36 | c.1126-150C>A | - | IntronicSNV | - | 11/13 |
5-112329578-A-C | DCP2 | c.432+1111A>C | - | IntronicSNV | - | 4/10 |
16-55617127-C-T | LPCAT2 | c.*117C>T | - | 3-UTRSNV | 14/14 | - |
5-153651459-A-G | GALNT10 | c.160-22917A>G | - | IntronicSNV | - | 1/11 |
7-150026753-T-C | LRRC61 | c.-145+6104T>C | - | intron_variant | - | 1/1 |
10-100164989-C-G | PYROXD2 | c.315+2350G>C | - | IntronicSNV | - | 4/15 |
9-123586737-T-G | PSMD5 | c.1006+35A>C | - | IntronicSNV | - | 7/9 |
10-100146895-T-C | PYROXD2 | c.1554+63A>G | - | IntronicSNV | - | 14/15 |
20-3370861-T-C | C20orf194 | c.84-7708A>G | - | IntronicSNV | - | 1/36 |
5-112359020-A-C | MCC | c.*3979T>G | - | 3-UTRSNV | 19/19 | - |
9-376538-G-T | DOCK8 | c.2205+233G>T | - | IntronicSNV | - | 19/47 |
10-101691628-G-T | DNMBP | c.2261-22725C>A | - | IntronicSNV | - | 4/16 |
5-79926126-C-T | DHFR | c.486-1142G>A | - | IntronicSNV | - | 5/5 |
11-64048912-C-T | BAD | c.187+2742G>A | - | IntronicSNV | - | 2/3 |
16-84213965-G-A | TAF1C | c.1108-15C>T | - | IntronicSNV | - | 12/14 |
1-160969930-A-C | F11R | c.591+6T>G | - | IntronicSNV | - | 5/9 |
16-56412734-C-G | AMFR | c.1380+7097G>C | - | IntronicSNV | - | 10/13 |
14-100834982-T-C | WARS | c.99+442A>G | - | IntronicSNV | - | 2/10 |
15-85227636-C-T | SEC11A | c.311+3220G>A | - | IntronicSNV | - | 3/5 |
1-160971015-G-C | F11R | c.133+60C>G | - | IntronicSNV | - | 2/9 |
2-242011084-T-C | SNED1 | c.3683T>C | p.Leu1228Pro | Missense | 25/32 | - |
10-95136032-T-C | MYOF | c.2108+1048A>G | - | IntronicSNV | - | 22/53 |
6-160235336-A-G | PNLDC1 | c.962+648A>G | - | IntronicSNV | - | 12/18 |
10-126093991-T-C | OAT | c.648+14A>G | - | IntronicSNV | - | 5/9 |
5-96112083-T-A | ERAP1 | c.2818+25A>T | - | IntronicSNV | - | 19/19 |
5-96112083-T-G | ERAP1 | c.2818+25A>C | - | IntronicSNV | - | 19/19 |
18-61577291-A-G | SERPINB10 | c.-10+2017A>G | - | intron_variant | - | 1/7 |
19-2405641-C-T | TMPRSS9 | c.740+98C>T | - | IntronicSNV | - | 6/16 |
1-151962689-G-C | S100A10 | c.-22+3539C>G | - | intron_variant | - | 1/2 |
3-52987645-T-G | SFMBT1 | c.123+688A>C | - | IntronicSNV | - | 3/20 |
7-2323167-G-C | SNX8 | c.95-5227C>G | - | IntronicSNV | - | 1/10 |
2-65480620-A-G | ACTR2 | c.464-242A>G | - | IntronicSNV | - | 5/9 |
2-65480620-A-T | ACTR2 | c.464-242A>T | - | IntronicSNV | - | 5/9 |
11-124741772-C-T | ROBO3 | c.1159-505C>T | - | IntronicSNV | - | 7/27 |
6-163907885-G-A | QKI | c.402+7957G>A | - | IntronicSNV | - | 3/7 |
7-149571466-A-G | ATP6V0E2 | c.251+208A>G | - | IntronicSNV | - | 1/3 |
16-55554225-G-C | LPCAT2 | c.172-5195G>C | - | IntronicSNV | - | 1/13 |
16-55554225-G-A | LPCAT2 | c.172-5195G>A | - | IntronicSNV | - | 1/13 |
20-34247702-G-A | RBM12 | c.-107-766C>T | - | intron_variant | - | 1/2 |
5-96119339-G-T | ERAP1 | c.2100+289C>A | - | IntronicSNV | - | 14/19 |
12-25052184-C-T | BCAT1 | c.78+2564G>A | - | IntronicSNV | - | 2/10 |
12-113408208-G-T | OAS3 | c.*430G>T | - | 3-UTRSNV | 16/16 | - |
20-34271774-G-A | NFS1 | c.562-1871C>T | - | IntronicSNV | - | 5/12 |
7-150438558-G-T | GIMAP1-GIMAP5 | c.655+543G>T | - | IntronicSNV | - | 5/5 |
7-106713815-G-A | PRKAR2B | c.343+3054G>A | - | IntronicSNV | - | 2/10 |
10-102764047-C-T | LZTS2 | c.1068+124C>T | - | IntronicSNV | - | 3/4 |
16-55568645-G-C | LPCAT2 | c.797+256G>C | - | IntronicSNV | - | 7/13 |
16-55568645-G-A | LPCAT2 | c.797+256G>A | - | IntronicSNV | - | 7/13 |
6-41245172-C-A | TREM1 | c.600-1204G>T | - | IntronicSNV | - | 3/3 |
6-41245172-C-T | TREM1 | c.600-1204G>A | - | IntronicSNV | - | 3/3 |
16-55530301-C-T | MMP2 | c.1323-537C>T | - | IntronicSNV | - | 9/12 |
7-128657277-T-A | TNPO3 | c.322-167A>T | - | IntronicSNV | - | 2/22 |
19-53120559-C-T | ZNF83 | c.1-2742G>A | - | IntronicSNV | - | 2/2 |
12-25052184-C-A | BCAT1 | c.78+2564G>T | - | IntronicSNV | - | 2/10 |
1-161009523-G-A | USF1 | c.*187C>T | - | 3-UTRSNV | 11/11 | - |
8-110508238-C-T | PKHD1L1 | c.10328-910C>T | - | IntronicSNV | - | 63/77 |
2-201736734-T-C | PPIL3 | c.372-490A>G | - | IntronicSNV | - | 6/6 |
6-34893068-T-C | ANKS1A | c.197+35692T>C | - | IntronicSNV | - | 1/23 |
6-34893068-T-G | ANKS1A | c.197+35692T>G | - | IntronicSNV | - | 1/23 |
6-163936810-G-T | QKI | c.403-19204G>T | - | IntronicSNV | - | 3/7 |
6-163936810-G-A | QKI | c.403-19204G>A | - | IntronicSNV | - | 3/7 |
1-111418523-A-G | CD53 | c.-18+2653A>G | - | intron_variant | - | 1/7 |
5-96336791-A-G | LNPEP | c.1654-2328A>G | - | IntronicSNV | - | 8/17 |
5-139941228-A-C | APBB3 | c.712T>G | p.Cys238Gly | Missense | 8/13 | - |
10-70231701-A-G | DNA2 | c.1-80T>C | - | 5-UTRSNV | 1/21 | - |
3-142221956-A-T | ATR | c.5288+248T>A | - | IntronicSNV | - | 30/46 |
3-142221956-A-G | ATR | c.5288+248T>C | - | IntronicSNV | - | 30/46 |
7-150431977-G-C | GIMAP1-GIMAP5 | c.403-2616G>C | - | IntronicSNV | - | 3/5 |
1-109714750-T-C | KIAA1324 | c.615+115T>C | - | IntronicSNV | - | 4/21 |
21-47704896-G-A | MCM3AP | c.305C>T | p.Ser102Leu | Missense | 1/28 | - |
20-37104072-A-G | RALGAPB | c.-31+2360A>G | - | intron_variant | - | 1/29 |
10-100168219-G-A | PYROXD2 | c.148-465C>T | - | IntronicSNV | - | 2/15 |
20-34378132-T-G | PHF20 | c.1-11313T>G | - | IntronicSNV | - | 1/17 |
7-150440243-G-T | GIMAP1-GIMAP5 | c.*92G>T | - | 3-UTRSNV | 6/6 | - |
7-150440243-G-C | GIMAP1-GIMAP5 | c.*92G>C | - | 3-UTRSNV | 6/6 | - |
20-56979124-A-T | VAPB | c.59-14143A>T | - | IntronicSNV | - | 1/2 |
1-11888384-A-G | CLCN6 | c.954+108A>G | - | IntronicSNV | - | 11/22 |
20-34368028-C-A | PHF20 | c.-33+8027C>A | - | intron_variant | - | 1/17 |
20-34368028-C-G | PHF20 | c.-33+8027C>G | - | intron_variant | - | 1/17 |
3-14993212-C-G | NR2C2 | c.-40+3799C>G | - | intron_variant | - | 1/14 |
5-150425467-G-A | TNIP1 | c.891C>T | p.Gly297Gly | Synonymous | 9/18 | - |
19-3198755-C-T | NCLN | c.616-60C>T | - | IntronicSNV | - | 4/14 |
5-131823927-T-C | IRF1 | c.88-210A>G | - | IntronicSNV | - | 2/9 |
16-70823633-A-G | VAC14 | c.105-3365T>C | - | IntronicSNV | - | 1/18 |
15-60745693-T-C | ICE2 | c.1125+109A>G | - | IntronicSNV | - | 9/15 |
7-134758289-T-A | AGBL3 | c.1909-2860T>A | - | IntronicSNV | - | 12/16 |
11-118250586-A-C | UBE4A | c.1897+121A>C | - | IntronicSNV | - | 11/19 |
1-160982257-A-G | F11R | c.64+8543T>C | - | IntronicSNV | - | 1/9 |
1-160977400-A-G | F11R | c.65-6257T>C | - | IntronicSNV | - | 1/9 |
17-73110279-C-T | ARMC7 | c.235+3578C>T | - | IntronicSNV | - | 2/2 |
17-73110279-C-A | ARMC7 | c.235+3578C>A | - | IntronicSNV | - | 2/2 |
4-185652147-G-A | CENPU | c.48-25C>T | - | IntronicSNV | - | 1/12 |
5-131823927-T-A | IRF1 | c.88-210A>T | - | IntronicSNV | - | 2/9 |
2-55877113-C-T | PNPT1 | c.1496-2525G>A | - | IntronicSNV | - | 18/27 |
8-133737085-G-A | TMEM71 | c.620-2724C>T | - | IntronicSNV | - | 6/9 |
16-56531185-C-G | BBS2 | c.1798-194G>C | - | IntronicSNV | - | 14/16 |
5-148725821-G-A | GRPEL2 | c.77+642G>A | - | IntronicSNV | - | 1/3 |
15-75082552-C-G | CSK | c.-66+7491C>G | - | intron_variant | - | 1/12 |
17-76143434-G-A | C17orf99 | c.70+442G>A | - | IntronicSNV | - | 2/4 |
7-150438799-G-T | GIMAP1-GIMAP5 | c.656-472G>T | - | IntronicSNV | - | 5/5 |
5-112329578-A-T | DCP2 | c.432+1111A>T | - | IntronicSNV | - | 4/10 |
14-104251006-C-T | PPP1R13B | c.277+126G>A | - | IntronicSNV | - | 3/16 |
10-100163120-A-T | PYROXD2 | c.316-3106T>A | - | IntronicSNV | - | 4/15 |
6-49431569-A-G | CENPQ | c.-19+403A>G | - | intron_variant | - | 1/8 |
1-151962689-G-A | S100A10 | c.-22+3539C>T | - | intron_variant | - | 1/2 |
16-56434742-G-T | AMFR | c.1085+903C>A | - | IntronicSNV | - | 8/13 |
12-109898913-G-C | KCTD10 | c.218-303C>G | - | IntronicSNV | - | 2/6 |
6-36107172-G-A | MAPK13 | c.*22G>A | - | 3-UTRSNV | 12/12 | - |
7-36729757-T-C | AOAH | c.128-3358A>G | - | IntronicSNV | - | 1/20 |
16-81127471-T-C | GCSH | c.148+2265A>G | - | IntronicSNV | - | 1/4 |
5-14288946-C-T | TRIO | c.540+1774C>T | - | IntronicSNV | - | 4/56 |
12-117442304-G-A | FBXW8 | c.1042-5824G>A | - | IntronicSNV | - | 7/10 |
7-38430615-A-G | AMPH | c.1878+734T>C | - | IntronicSNV | - | 19/20 |
9-99244798-G-T | HABP4 | c.828-1946G>T | - | IntronicSNV | - | 5/7 |
9-99244798-G-A | HABP4 | c.828-1946G>A | - | IntronicSNV | - | 5/7 |
6-167360389-T-C | RNASET2 | c.204-162A>G | - | IntronicSNV | - | 3/8 |
6-42955524-C-A | PPP2R5D | c.28-1825C>A | - | IntronicSNV | - | 1/15 |
6-31117075-C-T | CCHCR1 | c.1096-570G>A | - | IntronicSNV | - | 8/17 |
13-79940529-G-A | RBM26 | c.1136-199C>T | - | IntronicSNV | - | 7/20 |
5-112354898-C-G | DCP2 | c.*5717C>G | - | 3-UTRSNV | 11/11 | - |
16-56384720-T-C | GNAO1 | c.724-576T>C | - | IntronicSNV | - | 6/8 |
15-98505715-G-T | ARRDC4 | c.307+1317G>T | - | IntronicSNV | - | 1/7 |
1-151205303-A-G | PIP5K1A | c.600+124A>G | - | IntronicSNV | - | 6/14 |
20-34383634-A-G | PHF20 | c.1-5811A>G | - | IntronicSNV | - | 1/17 |
1-38007770-A-G | SNIP1 | c.328-1414T>C | - | IntronicSNV | - | 2/3 |
11-67207426-G-A | CORO1B | c.1008-112C>T | - | IntronicSNV | - | 8/10 |
15-41103293-A-G | ZFYVE19 | c.796+338A>G | - | IntronicSNV | - | 7/11 |
17-80888164-A-G | TBCD | c.2992-234A>G | - | IntronicSNV | - | 32/38 |
16-55532458-T-C | MMP2 | c.1619+98T>C | - | IntronicSNV | - | 11/12 |
15-98505715-G-C | ARRDC4 | c.307+1317G>C | - | IntronicSNV | - | 1/7 |
11-67207426-G-C | CORO1B | c.1008-112C>G | - | IntronicSNV | - | 8/10 |
8-37718468-C-T | RAB11FIP1 | c.*1945G>A | - | 3-UTRSNV | 5/5 | - |
5-131821558-A-G | IRF1 | c.668-150T>C | - | IntronicSNV | - | 7/9 |
9-124072127-C-T | GSN | c.505-835C>T | - | IntronicSNV | - | 3/16 |
17-74283669-A-G | QRICH2 | c.3398+212T>C | - | IntronicSNV | - | 6/18 |
16-1867040-T-A | HAGH | c.646-45A>T | - | IntronicSNV | - | 6/8 |
6-163947874-T-C | QKI | c.403-8140T>C | - | IntronicSNV | - | 3/7 |
12-132625105-G-A | DDX51 | c.1557-21C>T | - | IntronicSNV | - | 10/14 |
12-113351520-T-G | OAS1 | c.654+2480T>G | - | IntronicSNV | - | 3/5 |
1-209956542-C-A | C1orf74 | c.438G>T | p.Leu146Phe | Missense | 2/2 | - |
1-209956542-C-T | C1orf74 | c.438G>A | p.Leu146Leu | Synonymous | 2/2 | - |
21-48084820-C-T | PRMT2 | c.*581C>T | - | 3-UTRSNV | 11/11 | - |
21-48084820-C-G | PRMT2 | c.*581C>G | - | 3-UTRSNV | 11/11 | - |
19-37443625-T-A | ZNF568 | c.*1635T>A | - | 3-UTRSNV | 7/7 | - |
19-52267703-G-A | FPR2 | c.-15+3220G>A | - | intron_variant | - | 1/1 |
20-34442731-G-A | PHF20 | c.341-3493G>A | - | IntronicSNV | - | 4/17 |
18-13523462-G-A | LDLRAD4 | c.181+85079G>A | - | IntronicSNV | - | 3/5 |
6-163920573-T-C | QKI | c.402+20645T>C | - | IntronicSNV | - | 3/7 |
20-43975451-C-G | SDC4 | c.60+1514G>C | - | IntronicSNV | - | 1/4 |
20-43975451-C-A | SDC4 | c.60+1514G>T | - | IntronicSNV | - | 1/4 |
11-33074078-T-C | TCP11L1 | c.164-2061T>C | - | IntronicSNV | - | 2/9 |
7-102393321-A-G | FAM185A | c.561+1073A>G | - | IntronicSNV | - | 2/7 |
17-80131802-G-A | CCDC57 | c.1507-1066C>T | - | IntronicSNV | - | 10/16 |
19-51323501-A-G | KLK1 | c.405T>C | p.Asp135Asp | Synonymous | 3/5 | - |
5-179264731-T-A | SQSTM1 | c.*1138T>A | - | 3-UTRSNV | 9/9 | - |
7-6656897-A-G | ZNF853 | c.89A>G | p.Gln30Arg | Missense | 2/3 | - |
5-64827281-T-G | CENPK | c.289-2255A>C | - | IntronicSNV | - | 6/10 |
1-17429185-A-G | PADI2 | c.349+297T>C | - | IntronicSNV | - | 3/15 |
1-17429185-A-C | PADI2 | c.349+297T>G | - | IntronicSNV | - | 3/15 |
7-134758289-T-C | AGBL3 | c.1909-2860T>C | - | IntronicSNV | - | 12/16 |
3-14188762-G-C | XPC | c.2604+28C>G | - | IntronicSNV | - | 15/15 |
2-118688418-C-T | CCDC93 | c.1842+195G>A | - | IntronicSNV | - | 23/23 |
2-118688418-C-A | CCDC93 | c.1842+195G>T | - | IntronicSNV | - | 23/23 |
2-118688418-C-G | CCDC93 | c.1842+195G>C | - | IntronicSNV | - | 23/23 |
11-63962152-T-C | STIP1 | c.503+60T>C | - | IntronicSNV | - | 4/13 |
1-151846517-C-T | THEM4 | c.*847G>A | - | 3-UTRSNV | 6/6 | - |
10-126152995-C-T | LHPP | c.125+2439C>T | - | IntronicSNV | - | 1/6 |
10-126152995-C-A | LHPP | c.125+2439C>A | - | IntronicSNV | - | 1/6 |
6-42955524-C-T | PPP2R5D | c.28-1825C>T | - | IntronicSNV | - | 1/15 |
10-73507645-T-C | VSIR | c.*3365A>G | - | 3-UTRSNV | 7/7 | - |
20-34428078-A-T | PHF20 | c.84-2417A>T | - | IntronicSNV | - | 2/17 |
20-34244829-T-C | RBM12 | c.1-1585A>G | - | IntronicSNV | - | 2/2 |
10-100154247-G-C | PYROXD2 | c.785+706C>G | - | IntronicSNV | - | 8/15 |
22-46688208-C-T | TTC38 | c.1317-480C>T | - | IntronicSNV | - | 13/13 |
22-46688208-C-G | TTC38 | c.1317-480C>G | - | IntronicSNV | - | 13/13 |
15-43479328-C-T | CCNDBP1 | c.249+897C>T | - | IntronicSNV | - | 3/10 |
2-80756301-T-C | CTNNA2 | c.1291-15806T>C | - | IntronicSNV | - | 9/17 |
19-56247844-A-T | NLRP9 | c.280+1617T>A | - | IntronicSNV | - | 1/8 |
19-579100-C-T | BSG | c.416-400C>T | - | IntronicSNV | - | 2/8 |
3-71744495-T-A | EIF4E3 | c.87+1116A>T | - | IntronicSNV | - | 5/7 |
15-60731071-C-G | ICE2 | c.2426-2645G>C | - | IntronicSNV | - | 12/15 |
10-102002678-G-A | CWF19L1 | c.1044+777C>T | - | IntronicSNV | - | 10/13 |
15-78731149-C-T | IREB2 | c.19+451C>T | - | IntronicSNV | - | 1/21 |
15-78731149-C-G | IREB2 | c.19+451C>G | - | IntronicSNV | - | 1/21 |
8-23411559-T-C | SLC25A37 | c.211-12062T>C | - | IntronicSNV | - | 1/3 |
5-131821633-C-A | IRF1 | c.668-225G>T | - | IntronicSNV | - | 7/9 |
5-131821633-C-T | IRF1 | c.668-225G>A | - | IntronicSNV | - | 7/9 |
2-114653871-A-T | ACTR3 | c.44+5971A>T | - | IntronicSNV | - | 1/11 |
22-41565285-A-G | EP300 | c.4173-222A>G | - | IntronicSNV | - | 25/30 |
5-96244549-C-T | ERAP2 | c.2013-116C>T | - | IntronicSNV | - | 13/18 |
15-60731071-C-T | ICE2 | c.2426-2645G>A | - | IntronicSNV | - | 12/15 |
14-77678633-C-G | TMEM63C | c.1-6524C>G | - | IntronicSNV | - | 1/23 |
1-11886813-G-T | CLCN6 | c.708-333G>T | - | IntronicSNV | - | 9/22 |
9-140646023-T-C | EHMT1 | c.1171-760T>C | - | IntronicSNV | - | 6/26 |
12-9876091-G-A | CLECL1 | c.317-682C>T | - | IntronicSNV | - | 1/1 |
14-23035537-T-G | DAD1 | c.*45-1500A>C | - | intron_variant | - | 2/2 |
16-56419628-G-A | AMFR | c.1380+203C>T | - | IntronicSNV | - | 10/13 |
5-112312528-T-C | DCP2 | c.1-103T>C | - | 5-UTRSNV | 1/11 | - |
1-36940574-G-C | CSF3R | c.361+404C>G | - | IntronicSNV | - | 4/16 |
8-11644751-A-G | NEIL2 | c.*969A>G | - | 3-UTRSNV | 5/5 | - |
2-219108913-C-A | ARPC2 | c.550-1230C>A | - | IntronicSNV | - | 6/9 |
6-13268158-A-T | PHACTR1 | c.1392-4934A>T | - | IntronicSNV | - | 10/14 |
7-44121115-C-T | POLM | c.189-600G>A | - | IntronicSNV | - | 1/10 |
6-13268158-A-G | PHACTR1 | c.1392-4934A>G | - | IntronicSNV | - | 10/14 |
20-60776275-A-G | MTG2 | c.*142A>G | - | 3-UTRSNV | 7/7 | - |
1-161012590-G-A | USF1 | c.58+33C>T | - | IntronicSNV | - | 3/10 |
17-1446091-C-G | PITPNA | c.297+223G>C | - | IntronicSNV | - | 5/11 |
10-121692908-A-C | SEC23IP | c.2921+229A>C | - | IntronicSNV | - | 17/18 |
10-100154202-G-T | PYROXD2 | c.785+751C>A | - | IntronicSNV | - | 8/15 |
16-56445999-C-T | AMFR | c.348+2165G>A | - | IntronicSNV | - | 2/13 |
5-112334187-G-T | DCP2 | c.433-2594G>T | - | IntronicSNV | - | 4/10 |
16-55545346-A-T | LPCAT2 | c.171+2082A>T | - | IntronicSNV | - | 1/13 |
16-55545346-A-G | LPCAT2 | c.171+2082A>G | - | IntronicSNV | - | 1/13 |
16-56420594-G-A | AMFR | c.1277-660C>T | - | IntronicSNV | - | 9/13 |
10-100168499-C-A | PYROXD2 | c.148-745G>T | - | IntronicSNV | - | 2/15 |
16-56420594-G-C | AMFR | c.1277-660C>G | - | IntronicSNV | - | 9/13 |
2-219260651-C-T | SLC11A1 | c.*893C>T | - | 3-UTRSNV | 15/15 | - |
2-219260651-C-G | SLC11A1 | c.*893C>G | - | 3-UTRSNV | 15/15 | - |
2-219260651-C-A | SLC11A1 | c.*893C>A | - | 3-UTRSNV | 15/15 | - |
6-163858988-A-G | QKI | c.143-17323A>G | - | IntronicSNV | - | 1/7 |
5-112318928-C-T | DCP2 | c.54-2604C>T | - | IntronicSNV | - | 1/10 |
9-138961722-A-G | NACC2 | c.1-19355T>C | - | IntronicSNV | - | 1/5 |
16-28988269-C-T | SPNS1 | c.308-960C>T | - | IntronicSNV | - | 2/11 |
10-100168001-G-A | PYROXD2 | c.148-247C>T | - | IntronicSNV | - | 2/15 |
3-170582888-C-T | RPL22L1 | c.*1281G>A | - | 3-UTRSNV | 4/4 | - |
16-55517162-A-G | MMP2 | c.230+115A>G | - | IntronicSNV | - | 2/12 |
10-100186601-G-A | HPS1 | c.987+371C>T | - | IntronicSNV | - | 11/19 |
17-29627297-G-A | NF1 | c.4773-25541G>A | - | IntronicSNV | - | 35/56 |
2-219255423-A-G | SLC11A1 | c.955-498A>G | - | IntronicSNV | - | 9/14 |
16-56465425-C-T | NUDT21 | c.*1199G>A | - | 3-UTRSNV | 7/7 | - |
6-163962204-T-C | QKI | c.546+6047T>C | - | IntronicSNV | - | 4/7 |
6-6150763-C-T | F13A1 | c.2045+1283G>A | - | IntronicSNV | - | 14/14 |
6-6150763-C-G | F13A1 | c.2045+1283G>C | - | IntronicSNV | - | 14/14 |
16-89802396-G-A | ZNF276 | c.1250-1818G>A | - | IntronicSNV | - | 9/10 |
1-42745975-G-A | FOXJ3 | c.45-1632C>T | - | IntronicSNV | - | 2/12 |
8-22487087-T-C | BIN3 | c.338+390A>G | - | IntronicSNV | - | 6/8 |
7-50466304-A-G | IKZF1 | c.851-1312A>G | - | intron_variant | - | 7/7 |
10-35074019-T-C | PARD3 | c.120+29785A>G | - | IntronicSNV | - | 1/24 |
2-113945455-T-C | PSD4 | c.1628+1623T>C | - | IntronicSNV | - | 5/16 |
11-64117284-G-A | CCDC88B | c.2862+144G>A | - | IntronicSNV | - | 16/26 |
11-93259778-G-T | SMCO4 | c.-154+16664C>A | - | intron_variant | - | 1/2 |
11-93259778-G-A | SMCO4 | c.-154+16664C>T | - | intron_variant | - | 1/2 |
1-86173298-C-T | ZNHIT6 | c.656+14G>A | - | IntronicSNV | - | 1/9 |
2-132464058-G-A | C2orf27A | c.-479-15932G>A | - | intron_variant | - | 5/8 |
3-46303184-A-T | CCR3 | c.1-2711A>T | - | IntronicSNV | - | 1/2 |
17-29797082-T-C | RAB11FIP4 | c.336+35942T>C | - | IntronicSNV | - | 3/14 |
14-105717448-G-C | BRF1 | c.544+1396C>G | - | IntronicSNV | - | 5/17 |
10-71971403-C-T | PPA1 | c.511+1816G>A | - | IntronicSNV | - | 6/10 |
18-33704804-G-A | SLC39A6 | c.1-177C>T | - | IntronicSNV | 1/8 | - |
7-139646469-C-T | TBXAS1 | c.451-6698C>T | - | intron_variant | - | 5/12 |
7-139646469-C-G | TBXAS1 | c.451-6698C>G | - | intron_variant | - | 5/12 |
5-112321488-A-G | DCP2 | c.54-44A>G | - | IntronicSNV | - | 1/10 |
2-86377549-A-G | IMMT | c.1401+871T>C | - | IntronicSNV | - | 12/14 |
2-86377549-A-T | IMMT | c.1401+871T>A | - | IntronicSNV | - | 12/14 |
21-45539426-G-A | PWP2 | c.1188+22G>A | - | IntronicSNV | - | 10/20 |
1-160968224-G-T | F11R | c.*437C>A | - | 3-UTRSNV | 10/10 | - |
1-160968224-G-A | F11R | c.*437C>T | - | 3-UTRSNV | 10/10 | - |
9-37936464-C-A | SHB | c.1346+12168G>T | - | IntronicSNV | - | 5/5 |
5-139924715-C-T | ANKHD1-EIF4EBP3 | c.7679+2849C>T | - | IntronicSNV | - | 34/35 |
6-163932583-T-A | QKI | c.403-23431T>A | - | IntronicSNV | - | 3/7 |
5-75877193-C-G | IQGAP2 | c.458+5599C>G | - | IntronicSNV | - | 5/35 |
1-209953706-C-T | C1orf74 | c.*2464G>A | - | IntergenicSNV | 2/2 | - |
5-35871190-G-A | IL7R | c.412G>A | p.Val138Ile | Missense | 4/8 | - |
1-26527699-T-C | CATSPER4 | c.1200-146T>C | - | IntronicSNV | - | 8/9 |
21-47856106-C-A | PCNT | c.8996+45C>A | - | IntronicSNV | - | 39/46 |
21-47856106-C-T | PCNT | c.8996+45C>T | - | IntronicSNV | - | 39/46 |
19-11688460-T-C | ACP5 | c.-53A>G | - | 5_prime_UTR_variant | 2/6 | - |
19-50194845-C-A | CPT1C | c.-15+248C>A | - | intron_variant | - | 1/18 |
2-25305136-C-T | EFR3B | c.8-9058C>T | - | IntronicSNV | - | 1/22 |
11-61551356-T-A | MYRF | c.3033T>A | p.Ser1011Arg | Missense | 23/26 | - |
11-61551356-T-C | MYRF | c.3033T>C | p.Ser1011Ser | Synonymous | 23/26 | - |
17-74014468-C-T | EVPL | c.1439+59G>A | - | IntronicSNV | - | 12/21 |
7-128619415-T-G | TNPO3 | c.1921-238A>C | - | IntronicSNV | - | 15/22 |
11-18460308-C-G | LDHC | c.710+116C>G | - | IntronicSNV | - | 6/7 |
11-18460308-C-T | LDHC | c.710+116C>T | - | IntronicSNV | - | 6/7 |
12-122484294-G-A | BCL7A | c.439+2335G>A | - | IntronicSNV | - | 4/5 |
12-122484294-G-T | BCL7A | c.439+2335G>T | - | IntronicSNV | - | 4/5 |
10-100171104-C-G | PYROXD2 | c.128-389G>C | - | IntronicSNV | - | 1/15 |
1-167407517-A-G | CD247 | c.300+290T>C | - | IntronicSNV | - | 4/7 |
21-34926260-C-T | SON | c.4723C>T | p.Arg1575Cys | Missense | 3/12 | - |
19-10267077-T-A | DNMT1 | c.1341A>T | p.Pro447Pro | Synonymous | 17/40 | - |
19-10267077-T-C | DNMT1 | c.1341A>G | p.Pro447Pro | Synonymous | 17/40 | - |
12-21612183-A-G | PYROXD1 | c.751-1776A>G | - | IntronicSNV | - | 7/11 |
3-192629447-T-C | MB21D2 | c.211+5972A>G | - | IntronicSNV | - | 1/1 |
7-150440043-C-T | GIMAP1-GIMAP5 | c.1428C>T | p.Leu476Leu | Synonymous | 6/6 | - |
11-63988102-C-T | FERMT3 | c.1506C>T | p.Leu502Leu | Synonymous | 12/15 | - |
11-63988102-C-A | FERMT3 | c.1506C>A | p.Leu502Leu | Synonymous | 12/15 | - |
2-190590937-G-A | ANKAR | c.2636-1645G>A | - | IntronicSNV | - | 12/22 |
9-34269079-C-T | KIF24 | c.1443+176G>A | - | IntronicSNV | - | 8/12 |
2-160688351-C-T | LY75-CD302 | c.3842-54G>A | - | IntronicSNV | - | 27/38 |
14-21540062-C-T | ARHGEF40 | c.-2166-1142C>T | - | intron_variant | - | 1/23 |
11-75215421-A-C | GDPD5 | c.-144-14056T>G | - | intron_variant | - | 1/16 |
5-131822224-T-C | IRF1 | c.544+25A>G | - | IntronicSNV | - | 6/9 |
16-55612918-T-A | LPCAT2 | c.1315-103T>A | - | IntronicSNV | - | 12/13 |
9-34336266-C-T | NUDT2 | c.-225C>T | - | 5_prime_UTR_variant | 2/5 | - |
3-9416832-C-T | THUMPD3 | c.938+502C>T | - | IntronicSNV | - | 5/9 |
9-35687556-G-C | TPM2 | c.240+1587C>G | - | IntronicSNV | - | 2/8 |
19-1081617-A-G | ARHGAP45 | c.2307A>G | p.Gln769Gln | Synonymous | 18/23 | - |
16-56379937-C-A | GNAO1 | c.724-5359C>A | - | IntronicSNV | - | 6/8 |
16-56379937-C-T | GNAO1 | c.724-5359C>T | - | IntronicSNV | - | 6/8 |
17-56590643-T-C | MTMR4 | c.4-341A>G | - | IntronicSNV | - | 2/18 |
17-37234917-A-G | PLXDC1 | c.1050+440T>C | - | IntronicSNV | - | 10/13 |
8-28909523-C-T | HMBOX1 | c.*851C>T | - | 3-UTRSNV | 11/11 | - |
19-52267703-G-T | FPR2 | c.-15+3220G>T | - | intron_variant | - | 1/1 |
6-31117075-C-A | CCHCR1 | c.1096-570G>T | - | IntronicSNV | - | 8/17 |
11-65653242-C-T | FIBP | c.513-108G>A | - | IntronicSNV | - | 4/9 |
1-112954964-G-C | CTTNBP2NL | c.-10+25G>C | - | intron_variant | - | 2/5 |
1-112954964-G-A | CTTNBP2NL | c.-10+25G>A | - | intron_variant | - | 2/5 |
12-57490100-T-C | STAT6 | c.*255A>G | - | 3-UTRSNV | 22/22 | - |
11-65649984-T-C | CTSW | c.525T>C | p.Asp175Asp | Synonymous | 5/10 | - |
9-32452627-T-C | ACO1 | c.*2518T>C | - | IntergenicSNV | 21/21 | - |
5-138762305-T-G | DNAJC18 | c.374-259A>C | - | IntronicSNV | - | 3/7 |
10-3201679-A-G | PITRM1 | c.1007+361T>C | - | IntronicSNV | - | 9/26 |
8-21807757-A-G | XPO7 | c.19-16611A>G | - | IntronicSNV | - | 1/27 |
10-100151844-T-A | PYROXD2 | c.1062+345A>T | - | IntronicSNV | - | 10/15 |
10-100151844-T-C | PYROXD2 | c.1062+345A>G | - | IntronicSNV | - | 10/15 |
6-163937184-A-T | QKI | c.403-18830A>T | - | IntronicSNV | - | 3/7 |
16-55599570-A-C | LPCAT2 | c.1216-8973A>C | - | IntronicSNV | - | 11/13 |
14-92587804-A-C | NDUFB1 | c.-6+182T>G | - | intron_variant | - | 1/2 |
1-20972048-G-C | PINK1 | c.960-5G>C | - | IntronicSNV | - | 4/7 |
1-20972048-G-A | PINK1 | c.960-5G>A | - | IntronicSNV | - | 4/7 |
1-169572947-T-A | SELP | c.1520-498A>T | - | IntronicSNV | - | 9/16 |
1-169572947-T-G | SELP | c.1520-498A>C | - | IntronicSNV | - | 9/16 |
18-676008-G-C | ENOSF1 | c.1149-606C>G | - | IntronicSNV | - | 14/15 |
19-53943838-C-T | ZNF761 | c.-403-4416C>T | - | intron_variant | - | 1/6 |
9-37936464-C-T | SHB | c.1346+12168G>A | - | IntronicSNV | - | 5/5 |
20-34288250-G-C | ROMO1 | c.132-470G>C | - | IntronicSNV | - | 2/2 |
9-33125804-T-C | B4GALT1 | c.649-5200A>G | - | IntronicSNV | - | 2/5 |
15-34495602-A-T | KATNBL1 | c.-15+6550T>A | - | intron_variant | - | 1/9 |
7-128581835-A-G | IRF5 | c.1-301A>G | - | IntronicSNV | - | 1/8 |
10-16866373-T-C | CUBN | c.*601A>G | - | 3-UTRSNV | 67/67 | - |
2-114680422-T-C | ACTR3 | c.226-4500T>C | - | IntronicSNV | - | 3/11 |
17-39991790-C-T | NT5C3B | c.112-266G>A | - | IntronicSNV | - | 2/8 |
1-150685761-T-A | HORMAD1 | c.279+800A>T | - | IntronicSNV | - | 5/14 |
5-112328377-A-G | DCP2 | c.342A>G | p.Leu114Leu | Synonymous | 4/11 | - |
1-161038767-T-C | ARHGAP30 | c.97+551A>G | - | IntronicSNV | - | 1/12 |
1-161038767-T-A | ARHGAP30 | c.97+551A>T | - | IntronicSNV | - | 1/12 |
16-89911681-G-T | SPIRE2 | c.245-49G>T | - | IntronicSNV | - | 1/14 |
16-89911681-G-C | SPIRE2 | c.245-49G>C | - | IntronicSNV | - | 1/14 |
11-18524490-G-T | TSG101 | c.549-366C>A | - | IntronicSNV | - | 6/9 |
11-18524490-G-A | TSG101 | c.549-366C>T | - | IntronicSNV | - | 6/9 |
22-42996149-G-A | POLDIP3 | c.538-350C>T | - | IntronicSNV | - | 3/8 |
16-56398371-G-A | AMFR | c.1600-354C>T | - | IntronicSNV | - | 12/13 |
7-916678-T-C | GET4 | c.155+241T>C | - | IntronicSNV | - | 1/8 |
5-112347828-A-G | DCP2 | c.1100-1190A>G | - | IntronicSNV | - | 10/10 |
22-28815629-A-C | TTC28 | c.382-112998T>G | - | IntronicSNV | - | 2/22 |
6-163883083-G-C | QKI | c.285+6630G>C | - | IntronicSNV | - | 2/7 |
14-100882296-C-T | WDR25 | c.822+34213C>T | - | IntronicSNV | - | 2/6 |
3-4430848-C-T | SUMF1 | c.955-12775G>A | - | IntronicSNV | - | 7/8 |
17-30298039-G-T | SUZ12 | c.506-2126G>T | - | IntronicSNV | - | 5/15 |
1-17424845-C-T | PADI2 | c.350-2380G>A | - | IntronicSNV | - | 3/15 |
9-137809685-C-A | FCN1 | c.33G>T | p.Gly11Gly | Synonymous | 1/9 | - |
3-63893477-G-T | ATXN7 | c.1-4798G>T | - | IntronicSNV | - | 2/12 |
5-96111371-G-A | ERAP1 | c.2818+737C>T | - | IntronicSNV | - | 19/19 |
19-6940189-G-A | ADGRE1 | c.*149G>A | - | 3-UTRSNV | 20/20 | - |
19-6940189-G-T | ADGRE1 | c.*149G>T | - | 3-UTRSNV | 20/20 | - |
19-6940189-G-C | ADGRE1 | c.*149G>C | - | 3-UTRSNV | 20/20 | - |
5-180285668-G-C | ZFP62 | c.-172+2551C>G | - | intron_variant | - | 1/2 |
16-55518877-A-G | MMP2 | c.380-334A>G | - | IntronicSNV | - | 3/12 |
8-99305363-G-A | NIPAL2 | c.135+868C>T | - | IntronicSNV | - | 1/11 |
9-139316916-G-A | PMPCA | c.1408+488G>A | - | IntronicSNV | - | 12/12 |
12-113406945-T-C | OAS3 | c.3105-468T>C | - | IntronicSNV | - | 14/15 |
19-16346176-A-G | AP1M1 | c.*930A>G | - | IntergenicSNV | 12/12 | - |
12-47600843-C-T | PCED1B | c.-525-9162C>T | - | intron_variant | - | 2/3 |
11-63807222-G-A | MACROD1 | c.518-24469C>T | - | IntronicSNV | - | 3/10 |
16-28988269-C-G | SPNS1 | c.308-960C>G | - | IntronicSNV | - | 2/11 |
9-137809685-C-T | FCN1 | c.33G>A | p.Gly11Gly | Synonymous | 1/9 | - |
2-242022530-G-C | SNED1 | c.4121+751G>C | - | IntronicSNV | - | 29/31 |
5-156620013-C-T | ITK | c.138+11887C>T | - | IntronicSNV | - | 1/16 |
20-33551100-G-A | MYH7B | c.-96+5085G>A | - | intron_variant | - | 2/44 |
5-81571669-C-T | RPS23 | c.*259G>A | - | 3-UTRSNV | 4/4 | - |
12-113410316-G-A | OAS3 | c.*2538G>A | - | 3-UTRSNV | 16/16 | - |
6-163922028-A-G | QKI | c.402+22100A>G | - | IntronicSNV | - | 3/7 |
16-30095236-C-T | PPP4C | c.604+134C>T | - | IntronicSNV | - | 7/8 |
7-6062229-T-C | AIMP2 | c.575-705T>C | - | IntronicSNV | - | 3/3 |
5-1519693-G-A | LPCAT1 | c.135+4132C>T | - | IntronicSNV | - | 1/13 |
7-128663175-A-G | TNPO3 | c.121-4964T>C | - | IntronicSNV | - | 1/22 |
7-128663175-A-T | TNPO3 | c.121-4964T>A | - | IntronicSNV | - | 1/22 |
10-120810646-G-A | EIF3A | c.2319+65C>T | - | IntronicSNV | - | 15/21 |
20-34407698-C-T | PHF20 | c.83+18171C>T | - | IntronicSNV | - | 2/17 |
16-56397174-C-A | AMFR | c.1785-206G>T | - | IntronicSNV | - | 13/13 |
16-56397174-C-G | AMFR | c.1785-206G>C | - | IntronicSNV | - | 13/13 |
7-128584084-T-C | IRF5 | c.195+1754T>C | - | IntronicSNV | - | 2/8 |
2-219146882-G-A | TMBIM1 | c.1-18C>T | - | 5-UTRSNV | 2/12 | - |
3-66333185-G-A | SLC25A26 | c.453+19382G>A | - | intron_variant | - | 6/10 |
5-102884838-T-C | NUDT12 | c.*1724A>G | - | 3-UTRSNV | 7/7 | - |
15-66817545-G-C | ZWILCH | c.819+1459G>C | - | IntronicSNV | - | 8/18 |
10-52507396-G-T | ASAH2B | c.160-1707G>T | - | IntronicSNV | - | 3/5 |
19-8386701-G-A | RPS28 | c.87+114G>A | - | IntronicSNV | - | 2/3 |
10-52507396-G-A | ASAH2B | c.160-1707G>A | - | IntronicSNV | - | 3/5 |
4-44626806-C-A | YIPF7 | c.499-7G>T | - | IntronicSNV | - | 4/5 |
4-44626806-C-T | YIPF7 | c.499-7G>A | - | IntronicSNV | - | 4/5 |
22-45719497-C-G | FAM118A | c.300+189C>G | - | IntronicSNV | - | 3/8 |
6-163926038-G-A | QKI | c.402+26110G>A | - | IntronicSNV | - | 3/7 |
21-43855067-A-C | UBASH3A | c.1279+3A>C | - | IntronicSNV | - | 9/13 |
21-43855067-A-G | UBASH3A | c.1279+3A>G | - | IntronicSNV | - | 9/13 |
5-180374484-C-A | BTNL8 | c.674-28C>A | - | IntronicSNV | - | 3/7 |
16-81974754-C-T | PLCG2 | c.3481+1090C>T | - | IntronicSNV | - | 30/32 |
19-3762698-C-T | MRPL54 | c.1-1C>T | - | 5-UTRSNV | 1/3 | - |
17-78076592-A-C | GAA | c.-33+903A>C | - | intron_variant | - | 1/19 |
5-96131599-G-A | ERAP1 | c.799-734C>T | - | IntronicSNV | - | 4/19 |
16-55609568-C-T | LPCAT2 | c.1314+927C>T | - | IntronicSNV | - | 12/13 |
12-662838-T-G | B4GALNT3 | c.1749T>G | p.Pro583Pro | Synonymous | 14/20 | - |
12-662838-T-C | B4GALNT3 | c.1749T>C | p.Pro583Pro | Synonymous | 14/20 | - |
15-52840809-A-G | ARPP19 | c.*3322T>C | - | 3-UTRSNV | 3/3 | - |
9-139746992-G-C | MAMDC4 | c.46+78G>C | - | IntronicSNV | - | 1/26 |
1-11883629-T-A | CLCN6 | c.454-135T>A | - | IntronicSNV | - | 6/22 |
7-87839690-T-C | SRI | c.250-245A>G | - | IntronicSNV | - | 4/7 |
5-112386154-G-C | MCC | c.2449-1158C>G | - | IntronicSNV | - | 15/18 |
1-175134314-C-T | KIAA0040 | c.-134+1384G>A | - | intron_variant | - | 3/3 |
8-135637337-C-G | ZFAT | c.412+12367G>C | - | IntronicSNV | - | 4/16 |
11-126078285-C-G | RPUSD4 | c.557+1131G>C | - | IntronicSNV | - | 3/6 |
4-185346203-T-C | IRF2 | c.87+3929A>G | - | IntronicSNV | - | 2/8 |
12-96408976-T-A | LTA4H | c.1060-199A>T | - | IntronicSNV | - | 11/18 |
6-163908388-T-G | QKI | c.402+8460T>G | - | IntronicSNV | - | 3/7 |
17-53479066-C-T | MMD | c.447-167G>A | - | IntronicSNV | - | 5/6 |
22-46688208-C-A | TTC38 | c.1317-480C>A | - | IntronicSNV | - | 13/13 |
11-5642001-T-C | TRIM6-TRIM34 | c.985+10210T>C | - | IntronicSNV | - | 7/13 |
12-113418850-G-C | OAS2 | c.177+2260G>C | - | IntronicSNV | - | 1/1 |
12-113418850-G-A | OAS2 | c.177+2260G>A | - | IntronicSNV | - | 1/1 |
12-113418850-G-T | OAS2 | c.177+2260G>T | - | IntronicSNV | - | 1/1 |
8-91970669-A-G | NECAB1 | c.*2929A>G | - | 3-UTRSNV | 13/13 | - |
12-131313797-T-C | STX2 | c.31-1985A>G | - | IntronicSNV | - | 1/10 |
12-113381217-A-T | OAS3 | c.461-1064A>T | - | IntronicSNV | - | 2/15 |
16-55604128-A-T | LPCAT2 | c.1216-4415A>T | - | IntronicSNV | - | 11/13 |
20-33857544-C-A | MMP24 | c.1195-19C>A | - | IntronicSNV | - | 6/8 |
6-146872685-A-G | RAB32 | c.528+1808A>G | - | IntronicSNV | - | 2/2 |
1-11860120-T-C | MTHFR | c.586+149A>G | - | IntronicSNV | - | 4/11 |
11-34468639-A-T | CAT | c.67-2100A>T | - | IntronicSNV | - | 1/12 |
6-163891894-A-C | QKI | c.286-7918A>C | - | IntronicSNV | - | 2/7 |
6-163891894-A-T | QKI | c.286-7918A>T | - | IntronicSNV | - | 2/7 |
1-8926329-C-T | ENO1 | c.667+9G>A | - | IntronicSNV | - | 7/11 |
5-112373718-G-A | MCC | c.2756+5509C>T | - | IntronicSNV | - | 17/18 |
15-42614876-A-G | GANC | c.1293+658A>G | - | IntronicSNV | - | 11/23 |
7-150425351-G-T | GIMAP1-GIMAP5 | c.402+7857G>T | - | IntronicSNV | - | 3/5 |
21-47957332-G-A | DIP2A | c.1708-27G>A | - | IntronicSNV | - | 14/37 |
21-47957332-G-C | DIP2A | c.1708-27G>C | - | IntronicSNV | - | 14/37 |
10-100166732-G-A | PYROXD2 | c.315+607C>T | - | IntronicSNV | - | 4/15 |
11-77665728-C-G | INTS4 | c.918+1260G>C | - | IntronicSNV | - | 8/22 |
11-77665728-C-T | INTS4 | c.918+1260G>A | - | IntronicSNV | - | 8/22 |
12-14653867-C-T | ATF7IP | c.*2860C>T | - | IntergenicSNV | 15/15 | - |
20-34368028-C-T | PHF20 | c.-33+8027C>T | - | intron_variant | - | 1/17 |
16-55558730-G-A | LPCAT2 | c.172-690G>A | - | IntronicSNV | - | 1/13 |
15-66850957-C-G | LCTL | c.706-583G>C | - | IntronicSNV | - | 7/13 |
1-19579969-A-G | MRTO4 | c.29-1307A>G | - | IntronicSNV | - | 1/7 |
11-118850707-G-A | FOXR1 | c.611+329G>A | - | IntronicSNV | - | 4/5 |
11-67353844-C-T | GSTP1 | c.445-16C>T | - | IntronicSNV | - | 6/6 |
11-67353844-C-A | GSTP1 | c.445-16C>A | - | IntronicSNV | - | 6/6 |
7-50470604-T-G | IKZF1 | c.*2279T>G | - | 3_prime_UTR_variant | 8/8 | - |
7-150439500-C-T | GIMAP1-GIMAP5 | c.885C>T | p.Ala295Ala | Synonymous | 6/6 | - |
10-52358285-G-A | SGMS1 | c.-683-8278C>T | - | intron_variant | - | 1/10 |
19-53141625-G-A | ZNF83 | c.-382C>T | - | 5_prime_UTR_variant | 1/3 | - |
20-34448810-G-A | PHF20 | c.421-2125G>A | - | IntronicSNV | - | 5/17 |
20-34448810-G-C | PHF20 | c.421-2125G>C | - | IntronicSNV | - | 5/17 |
14-75590340-G-A | NEK9 | c.397+409C>T | - | IntronicSNV | - | 2/21 |
9-123163476-C-T | CDK5RAP2 | c.5308-313G>A | - | IntronicSNV | - | 34/37 |
7-23652561-T-C | CCDC126 | c.238+1389T>C | - | IntronicSNV | - | 3/3 |
1-151956814-C-T | S100A10 | c.133-1014G>A | - | IntronicSNV | - | 2/2 |
16-56421427-A-G | AMFR | c.1277-1493T>C | - | IntronicSNV | - | 9/13 |
2-234406655-G-T | USP40 | c.2712+539C>A | - | intron_variant | - | 22/30 |
5-96122458-C-T | ERAP1 | c.1680-205G>A | - | IntronicSNV | - | 11/19 |
14-75626042-A-C | TMED10 | c.226-7196T>G | - | IntronicSNV | - | 1/4 |
7-128645292-A-C | TNPO3 | c.553-79T>G | - | IntronicSNV | - | 4/22 |
15-76822418-C-G | SCAPER | c.2839-25103G>C | - | IntronicSNV | - | 23/31 |
21-42821113-T-C | MX1 | c.1323T>C | p.Arg441Arg | Synonymous | 16/19 | - |
3-139385257-G-A | NMNAT3 | c.-103+11290C>T | - | intron_variant | - | 1/4 |
6-49457835-A-T | CENPQ | c.675+1438A>T | - | IntronicSNV | - | 8/8 |
6-49457835-A-G | CENPQ | c.675+1438A>G | - | IntronicSNV | - | 8/8 |
16-56400847-T-C | AMFR | c.1599+509A>G | - | IntronicSNV | - | 12/13 |
20-34398628-T-C | PHF20 | c.83+9101T>C | - | IntronicSNV | - | 2/17 |
2-75762367-T-C | EVA1A | c.-191-12754A>G | - | intron_variant | - | 1/3 |
6-163948564-G-A | QKI | c.403-7450G>A | - | IntronicSNV | - | 3/7 |
3-126255878-C-G | CHST13 | c.180+682C>G | - | IntronicSNV | - | 2/2 |
6-42138533-C-T | GUCA1A | c.1-2819C>T | - | IntronicSNV | - | 2/5 |
8-144616902-A-G | ZC3H3 | c.1561+1525T>C | - | IntronicSNV | - | 3/11 |
7-30701914-G-A | CRHR2 | c.779-82C>T | - | IntronicSNV | - | 7/12 |
11-126092564-A-C | FAM118B | c.-76-6556A>C | - | intron_variant | - | 1/8 |
6-163892317-A-G | QKI | c.286-7495A>G | - | IntronicSNV | - | 2/7 |
17-25964669-G-C | LGALS9 | c.40-620G>C | - | IntronicSNV | - | 1/10 |
9-139266405-G-A | CARD9 | c.126C>T | p.Pro42Pro | Synonymous | 2/13 | - |
7-30704159-A-T | CRHR2 | c.624+527T>A | - | IntronicSNV | - | 6/12 |
16-55614447-A-T | LPCAT2 | c.1450+1291A>T | - | IntronicSNV | - | 13/13 |
7-128655918-C-G | TNPO3 | c.396-729G>C | - | IntronicSNV | - | 3/22 |
16-55561665-A-G | LPCAT2 | c.312-624A>G | - | IntronicSNV | - | 2/13 |
6-159210605-C-T | EZR | c.13-202G>A | - | IntronicSNV | - | 1/12 |
16-55603468-C-T | LPCAT2 | c.1216-5075C>T | - | IntronicSNV | - | 11/13 |
16-74485529-T-C | GLG1 | c.*425A>G | - | 3-UTRSNV | 27/27 | - |
19-45367777-C-T | NECTIN2 | c.89-751C>T | - | IntronicSNV | - | 1/5 |
12-16414427-A-G | SLC15A5 | c.585-3623T>C | - | IntronicSNV | - | 2/8 |
16-15802334-C-T | MYH11 | c.*334G>A | - | IntronicSNV | - | 42/42 |
1-62165136-C-T | TM2D1 | c.439+1470G>A | - | IntronicSNV | - | 4/6 |
16-55603226-C-T | LPCAT2 | c.1216-5317C>T | - | IntronicSNV | - | 11/13 |
11-62394881-A-G | GANAB | c.2181-56T>C | - | IntronicSNV | - | 17/23 |
8-131354091-G-A | ASAP1 | c.186+16172C>T | - | IntronicSNV | - | 3/29 |
7-158651087-G-A | WDR60 | c.15+1646G>A | - | IntronicSNV | - | 1/24 |
16-56421427-A-T | AMFR | c.1277-1493T>A | - | IntronicSNV | - | 9/13 |
5-131821558-A-C | IRF1 | c.668-150T>G | - | IntronicSNV | - | 7/9 |
2-207044535-T-G | GPR1 | c.1-2564A>C | - | IntronicSNV | - | 2/2 |
16-56404011-C-T | AMFR | c.1381-772G>A | - | IntronicSNV | - | 10/13 |
11-126078285-C-T | RPUSD4 | c.557+1131G>A | - | IntronicSNV | - | 3/6 |
16-55524476-A-G | MMP2 | c.1030+740A>G | - | IntronicSNV | - | 7/12 |
15-81596590-T-G | IL16 | c.3420+599T>G | - | IntronicSNV | - | 16/18 |
16-55522200-G-C | MMP2 | c.683-255G>C | - | IntronicSNV | - | 5/12 |
2-219259270-G-A | SLC11A1 | c.1389-85G>A | - | IntronicSNV | - | 13/14 |
1-11886813-G-A | CLCN6 | c.708-333G>A | - | IntronicSNV | - | 9/22 |
17-76137477-T-G | TMC8 | c.*284T>G | - | 3-UTRSNV | 16/16 | - |
19-49973784-A-G | ALDH16A1 | c.*60A>G | - | 3-UTRSNV | 17/17 | - |
20-7992324-A-G | TMX4 | c.177-1362T>C | - | IntronicSNV | - | 1/7 |
16-56498511-G-T | OGFOD1 | c.449-1553G>T | - | IntronicSNV | - | 4/12 |
16-56511736-T-C | OGFOD1 | c.*1619T>C | - | IntergenicSNV | 13/13 | - |
12-8210637-A-T | C3AR1 | c.*696T>A | - | IntergenicSNV | 2/2 | - |
12-8210637-A-G | C3AR1 | c.*696T>C | - | IntergenicSNV | 2/2 | - |
12-47608135-G-C | PCED1B | c.-525-1870G>C | - | intron_variant | - | 2/3 |
19-50865535-A-G | NAPSA | c.119T>C | p.Ile40Thr | Missense | 2/9 | - |
1-11889468-A-G | CLCN6 | c.1248+89A>G | - | IntronicSNV | - | 13/22 |
6-166750760-G-A | SFT2D1 | c.63+5147C>T | - | IntronicSNV | - | 1/7 |
15-42196846-G-C | EHD4 | c.1090-3467C>G | - | IntronicSNV | - | 5/5 |
19-5152387-T-C | KDM4B | c.*865T>C | - | 3-UTRSNV | 23/23 | - |
5-112385447-G-A | MCC | c.2449-451C>T | - | IntronicSNV | - | 15/18 |
1-119460797-T-C | TBX15 | c.544-3995A>G | - | IntronicSNV | - | 5/7 |
9-139316916-G-C | PMPCA | c.1408+488G>C | - | IntronicSNV | - | 12/12 |
10-100171028-G-A | PYROXD2 | c.128-313C>T | - | IntronicSNV | - | 1/15 |
17-18137141-A-G | LLGL1 | c.442A>G | p.Ser148Gly | Missense | 5/23 | - |
16-55543878-T-C | LPCAT2 | c.171+614T>C | - | IntronicSNV | - | 1/13 |
10-100154096-A-G | PYROXD2 | c.785+857T>C | - | IntronicSNV | - | 8/15 |
1-111834984-T-C | CHIA | c.-184+1412T>C | - | intron_variant | - | 1/9 |
6-160100302-A-G | SOD2 | c.*3223T>C | - | IntergenicSNV | 5/5 | - |
17-53479066-C-G | MMD | c.447-167G>C | - | IntronicSNV | - | 5/6 |
8-144413416-G-A | TOP1MT | c.216C>T | p.Asp72Asp | Synonymous | 2/14 | - |
6-163919209-C-A | QKI | c.402+19281C>A | - | IntronicSNV | - | 3/7 |
10-100167860-G-C | PYROXD2 | c.148-106C>G | - | IntronicSNV | - | 2/15 |
20-1118399-T-G | PSMF1 | c.551+2450T>G | - | IntronicSNV | - | 5/7 |
16-347184-A-G | AXIN1 | c.1827T>C | p.Ala609Ala | Synonymous | 7/11 | - |
9-96042061-A-G | WNK2 | c.4034-9009A>G | - | IntronicSNV | - | 18/28 |
8-11024663-C-T | XKR6 | c.764+33422G>A | - | IntronicSNV | - | 1/2 |
8-11024663-C-A | XKR6 | c.764+33422G>T | - | IntronicSNV | - | 1/2 |
1-160970968-G-A | F11R | c.134-51C>T | - | IntronicSNV | - | 2/9 |
2-103347857-A-G | MFSD9 | c.254-330T>C | - | IntronicSNV | - | 2/5 |
20-5121536-T-A | CDS2 | c.57+13741T>A | - | IntronicSNV | - | 1/12 |
14-105729792-G-A | BRF1 | c.440-6906C>T | - | IntronicSNV | - | 3/17 |
16-1867040-T-C | HAGH | c.646-45A>G | - | IntronicSNV | - | 6/8 |
1-201959738-G-C | RNPEP | c.737+1079G>C | - | IntronicSNV | - | 3/10 |
1-201959738-G-A | RNPEP | c.737+1079G>A | - | IntronicSNV | - | 3/10 |
16-460673-G-T | DECR2 | c.463-18G>T | - | IntronicSNV | - | 5/8 |
12-113357193-G-A | OAS1 | c.1039-99G>A | - | IntronicSNV | - | 5/5 |
12-113357193-G-C | OAS1 | c.1039-99G>C | - | IntronicSNV | - | 5/5 |
3-148862430-G-T | HPS3 | c.971-711G>T | - | IntronicSNV | - | 4/16 |
7-128668510-T-A | TNPO3 | c.121-10299A>T | - | IntronicSNV | - | 1/22 |
7-128668510-T-G | TNPO3 | c.121-10299A>C | - | IntronicSNV | - | 1/22 |
4-57352319-A-T | SRP72 | c.904-172A>T | - | IntronicSNV | - | 8/16 |
3-45177006-T-C | CDCP1 | c.82+10692A>G | - | IntronicSNV | - | 1/8 |
20-1518586-C-G | SIRPD | c.422-630G>C | - | IntronicSNV | - | 2/3 |
9-123162666-A-G | CDK5RAP2 | c.5451+354T>C | - | IntronicSNV | - | 35/37 |
8-23423669-A-G | SLC25A37 | c.259A>G | p.Ile87Val | Missense | 2/4 | - |
6-33032975-T-G | HLA-DPA1 | c.*162A>C | - | 3_prime_UTR_variant | 5/5 | - |
13-46917469-G-A | RUBCNL | c.*51C>T | - | 3-UTRSNV | 15/15 | - |
5-35877505-G-A | IL7R | c.*917G>A | - | 3-UTRSNV | 8/8 | - |
12-121177778-A-G | ACADS | c.*527A>G | - | 3-UTRSNV | 10/10 | - |
20-34413663-A-G | PHF20 | c.84-16832A>G | - | IntronicSNV | - | 2/17 |
5-131819977-C-T | IRF1 | c.853+77G>A | - | IntronicSNV | - | 9/9 |
11-60782329-G-C | CD6 | c.1387+843G>C | - | IntronicSNV | - | 8/12 |
8-144615195-C-T | ZC3H3 | c.1561+3232G>A | - | IntronicSNV | - | 3/11 |
3-126247848-C-T | CHST13 | c.97+4576C>T | - | IntronicSNV | - | 1/2 |
9-93658978-A-G | SYK | c.*1096A>G | - | 3-UTRSNV | 13/13 | - |
20-34432670-A-G | PHF20 | c.255+2004A>G | - | IntronicSNV | - | 3/17 |
20-34432670-A-T | PHF20 | c.255+2004A>T | - | IntronicSNV | - | 3/17 |
10-72240614-T-G | PALD1 | c.-30+1799T>G | - | intron_variant | - | 1/19 |
5-133891282-C-T | JADE2 | c.311+3383C>T | - | IntronicSNV | - | 4/10 |
18-72188347-T-A | CNDP2 | c.*1044T>A | - | 3-UTRSNV | 12/12 | - |
18-72188347-T-G | CNDP2 | c.*1044T>G | - | 3-UTRSNV | 12/12 | - |
12-57917712-C-T | MBD6 | c.1-375C>T | - | IntronicSNV | - | 1/12 |
3-121585146-T-C | EAF2 | c.485-6238T>C | - | IntronicSNV | - | 4/5 |
3-121585146-T-A | EAF2 | c.485-6238T>A | - | IntronicSNV | - | 4/5 |
17-79619226-C-T | PDE6G | c.147-511G>A | - | IntronicSNV | - | 2/3 |
6-163892552-G-A | QKI | c.286-7260G>A | - | IntronicSNV | - | 2/7 |
5-131820275-C-A | IRF1 | c.718-86G>T | - | IntronicSNV | - | 8/9 |
1-93617546-T-C | TMED5 | c.*2681A>G | - | 3-UTRSNV | 4/4 | - |
20-1518586-C-T | SIRPD | c.422-630G>A | - | IntronicSNV | - | 2/3 |
11-75167383-G-T | GDPD5 | c.375+419C>A | - | IntronicSNV | - | 6/16 |
11-75167383-G-C | GDPD5 | c.375+419C>G | - | IntronicSNV | - | 6/16 |
16-55527891-G-A | MMP2 | c.1322+686G>A | - | IntronicSNV | - | 9/12 |
5-6608150-T-C | NSUN2 | c.1324-653A>G | - | IntronicSNV | - | 12/18 |
16-86564364-A-G | MTHFSD | c.*1253T>C | - | 3-UTRSNV | 8/8 | - |
21-34822150-T-A | TMEM50B | c.*975A>T | - | 3-UTRSNV | 7/7 | - |
13-37555770-C-T | ALG5 | c.561+3994G>A | - | IntronicSNV | - | 6/9 |
6-133016685-T-C | VNN1 | c.342-1364A>G | - | IntronicSNV | - | 2/6 |
3-133544998-A-G | RAB6B | c.*2634T>C | - | 3-UTRSNV | 8/8 | - |
5-96131599-G-C | ERAP1 | c.799-734C>G | - | IntronicSNV | - | 4/19 |
5-179264731-T-C | SQSTM1 | c.*1138T>C | - | 3-UTRSNV | 9/9 | - |
19-3548313-T-C | MFSD12 | c.510-48A>G | - | IntronicSNV | - | 2/9 |
1-209977964-G-C | IRF6 | c.-76+1328C>G | - | intron_variant | - | 1/8 |
12-113357442-G-A | OAS1 | c.1189G>A | p.Gly397Arg | Missense | 6/6 | - |
5-180235503-T-C | MGAT1 | c.-127+145A>G | - | intron_variant | - | 2/2 |
15-75044238-G-A | CYP1A2 | c.1042+43G>A | - | IntronicSNV | - | 4/6 |
7-150431977-G-A | GIMAP1-GIMAP5 | c.403-2616G>A | - | IntronicSNV | - | 3/5 |
4-108639491-A-C | PAPSS1 | c.60+1785T>G | - | IntronicSNV | - | 1/11 |
7-43908493-A-G | URGCP-MRPS24 | c.*92T>C | - | IntronicSNV | 7/7 | - |
7-43908493-A-T | URGCP-MRPS24 | c.*92T>A | - | IntronicSNV | 7/7 | - |
15-43543258-C-A | TGM5 | c.616+1699G>T | - | IntronicSNV | - | 5/11 |
6-41243740-C-T | TREM1 | c.*123G>A | - | 3-UTRSNV | 4/4 | - |
15-52850352-T-C | ARPP19 | c.46-933A>G | - | IntronicSNV | - | 1/2 |
15-52850352-T-G | ARPP19 | c.46-933A>C | - | IntronicSNV | - | 1/2 |
1-22054427-C-A | USP48 | c.1450+636G>T | - | IntronicSNV | - | 11/26 |
3-50093209-G-A | RBM6 | c.1693+1381G>A | - | IntronicSNV | - | 8/20 |
19-42306326-A-C | CEACAM3 | c.424+4446A>C | - | IntronicSNV | - | 2/6 |
5-112325869-C-T | DCP2 | c.206-1949C>T | - | IntronicSNV | - | 2/10 |
1-89734274-A-C | GBP5 | c.318+138T>G | - | IntronicSNV | - | 4/11 |
6-35386041-A-G | PPARD | c.131-1863A>G | - | IntronicSNV | - | 3/7 |
16-55539614-A-C | MMP2 | c.*260A>C | - | 3-UTRSNV | 13/13 | - |
4-103732866-C-A | UBE2D3 | c.31-1854G>T | - | IntronicSNV | - | 1/6 |
4-103732866-C-T | UBE2D3 | c.31-1854G>A | - | IntronicSNV | - | 1/6 |
20-34457513-G-A | PHF20 | c.922+40G>A | - | IntronicSNV | - | 7/17 |
1-160976337-G-A | F11R | c.65-5194C>T | - | IntronicSNV | - | 1/9 |
7-128625788-A-G | TNPO3 | c.1690+995T>C | - | IntronicSNV | - | 12/22 |
1-201952574-T-C | RNPEP | c.447+333T>C | - | IntronicSNV | - | 1/10 |
16-2999218-C-T | FLYWCH1 | c.*490C>T | - | 3-UTRSNV | 10/10 | - |
16-2999218-C-G | FLYWCH1 | c.*490C>G | - | 3-UTRSNV | 10/10 | - |
1-46806703-A-G | NSUN4 | c.93+112A>G | - | IntronicSNV | - | 1/5 |
6-163897886-G-A | QKI | c.286-1926G>A | - | IntronicSNV | - | 2/7 |
3-50028385-G-T | RBM6 | c.1484-8488G>T | - | IntronicSNV | - | 5/20 |
14-23033838-G-A | DAD1 | c.*244C>T | - | 3_prime_UTR_variant | 3/3 | - |
4-88232510-G-A | HSD17B13 | c.696-999C>T | - | IntronicSNV | - | 5/6 |
10-100176154-C-T | HPS1 | c.*1167G>A | - | 3-UTRSNV | 20/20 | - |
10-100170507-A-T | PYROXD2 | c.147+189T>A | - | IntronicSNV | - | 2/15 |
16-67476572-A-G | ATP6V0D1 | c.561+430T>C | - | IntronicSNV | - | 4/7 |
15-68495852-A-C | CALML4 | c.163+1607T>G | - | IntronicSNV | - | 2/4 |
4-39031842-C-A | TMEM156 | c.88+2004G>T | - | IntronicSNV | - | 1/6 |
5-112382917-G-A | MCC | c.2655+1873C>T | - | IntronicSNV | - | 16/18 |
5-112382917-G-C | MCC | c.2655+1873C>G | - | IntronicSNV | - | 16/18 |
5-112363954-A-C | MCC | c.2879+677T>G | - | IntronicSNV | - | 18/18 |
5-112363954-A-G | MCC | c.2879+677T>C | - | IntronicSNV | - | 18/18 |
2-207174316-T-C | ZDBF2 | c.5064T>C | p.Ser1688Ser | Synonymous | 5/5 | - |
12-113380008-G-A | OAS3 | c.460+351G>A | - | IntronicSNV | - | 2/15 |
20-25487523-C-T | NINL | c.518-1809G>A | - | IntronicSNV | - | 5/23 |
1-39470364-A-G | AKIRIN1 | c.*637A>G | - | 3-UTRSNV | 5/5 | - |
16-55543073-G-C | LPCAT2 | c.1-21G>C | - | 5-UTRSNV | 1/14 | - |
19-40901011-G-A | PRX | c.*3453C>T | - | 3-UTRSNV | 6/6 | - |
19-40901011-G-T | PRX | c.*3453C>A | - | 3-UTRSNV | 6/6 | - |
21-44293744-C-G | WDR4 | c.213G>C | p.Lys71Asn | Missense | 3/11 | - |
6-163846172-A-G | QKI | c.142+9805A>G | - | IntronicSNV | - | 1/7 |
16-55546358-C-T | LPCAT2 | c.171+3094C>T | - | IntronicSNV | - | 1/13 |
6-158790653-A-T | TULP4 | c.253-43444A>T | - | IntronicSNV | - | 1/13 |
16-55544549-G-A | LPCAT2 | c.171+1285G>A | - | IntronicSNV | - | 1/13 |
20-34447160-G-A | PHF20 | c.420+857G>A | - | IntronicSNV | - | 5/17 |
5-169343672-A-G | DOCK2 | c.2800-66400A>G | - | IntronicSNV | - | 27/51 |
10-100189252-G-A | HPS1 | c.937+78C>T | - | IntronicSNV | - | 10/19 |
6-31941557-G-A | STK19 | c.567+1023G>A | - | IntronicSNV | - | 3/7 |
1-85128832-C-T | SSX2IP | c.674-619G>A | - | IntronicSNV | - | 7/14 |
1-89637578-G-A | GBP7 | c.41C>T | p.Thr14Ile | Missense | 2/11 | - |
3-183749731-T-C | HTR3D | c.-198+372T>C | - | intron_variant | - | 1/5 |
15-81599294-C-A | IL16 | c.3805+408C>A | - | IntronicSNV | - | 18/18 |
1-161030806-T-C | ARHGAP30 | c.98-1300A>G | - | IntronicSNV | - | 1/12 |
1-161030806-T-G | ARHGAP30 | c.98-1300A>C | - | IntronicSNV | - | 1/12 |
16-55560081-G-T | LPCAT2 | c.311+522G>T | - | IntronicSNV | - | 2/13 |
19-57983805-A-G | ZNF772 | c.*837T>C | - | 3-UTRSNV | 5/5 | - |
19-57983805-A-C | ZNF772 | c.*837T>G | - | 3-UTRSNV | 5/5 | - |
6-42931224-G-A | GNMT | c.716+37G>A | - | IntronicSNV | - | 5/5 |
7-128630313-T-A | TNPO3 | c.1359-159A>T | - | IntronicSNV | - | 10/22 |
9-117070767-A-T | COL27A1 | c.5217+709A>T | - | IntronicSNV | - | 59/60 |
1-175115567-A-C | TNN | c.3760-500A>C | - | IntronicSNV | - | 18/18 |
1-175115567-A-T | TNN | c.3760-500A>T | - | IntronicSNV | - | 18/18 |
5-140715094-G-A | PCDHGA1 | c.2421+2422G>A | - | IntronicSNV | - | 1/3 |
3-58330942-A-T | PXK | c.102+12125A>T | - | IntronicSNV | - | 1/17 |
1-167759419-C-G | MPZL1 | c.*2338C>G | - | 3-UTRSNV | 5/5 | - |
22-45746826-T-G | SMC1B | c.3426-1148A>C | - | IntronicSNV | - | 22/24 |
17-18263957-G-A | SHMT1 | c.-20+2729C>T | - | intron_variant | - | 1/11 |
1-151848126-A-T | THEM4 | c.683-722T>A | - | IntronicSNV | - | 5/5 |
7-128683012-C-T | TNPO3 | c.120+11693G>A | - | IntronicSNV | - | 1/22 |
2-219151218-A-C | TMBIM1 | c.1-4354T>G | - | IntronicSNV | - | 1/11 |
17-5326341-C-T | RPAIN | c.313+192C>T | - | IntronicSNV | - | 3/6 |
7-128623097-T-C | TNPO3 | c.1783-719A>G | - | IntronicSNV | - | 13/22 |
17-74267010-T-C | UBALD2 | c.*424T>C | - | 3-UTRSNV | 3/3 | - |
6-3000303-A-C | NQO2 | c.-102A>C | - | 5_prime_UTR_variant | 1/7 | - |
16-23681165-G-A | DCTN5 | c.*2700G>A | - | 3-UTRSNV | 6/6 | - |
6-6145692-C-T | F13A1 | c.*160G>A | - | 3-UTRSNV | 15/15 | - |
5-112365804-G-A | MCC | c.2757-1051C>T | - | IntronicSNV | - | 17/18 |
16-56417047-T-C | AMFR | c.1380+2784A>G | - | IntronicSNV | - | 10/13 |
16-56417047-T-A | AMFR | c.1380+2784A>T | - | IntronicSNV | - | 10/13 |
2-37480249-A-G | PRKD3 | c.*71T>C | - | 3-UTRSNV | 18/18 | - |
16-10766516-C-A | TEKT5 | c.1086+3300G>T | - | IntronicSNV | - | 5/6 |
20-56979416-G-T | VAPB | c.59-13851G>T | - | IntronicSNV | - | 1/2 |
6-163839668-T-C | QKI | c.142+3301T>C | - | IntronicSNV | - | 1/7 |
17-15868291-G-A | ADORA2B | c.336-9702G>A | - | IntronicSNV | - | 1/1 |
17-15868291-G-C | ADORA2B | c.336-9702G>C | - | IntronicSNV | - | 1/1 |
17-15868291-G-T | ADORA2B | c.336-9702G>T | - | IntronicSNV | - | 1/1 |
10-100169051-C-T | PYROXD2 | c.148-1297G>A | - | IntronicSNV | - | 2/15 |
12-57489828-C-T | STAT6 | c.*527G>A | - | 3-UTRSNV | 22/22 | - |
10-100189076-G-C | HPS1 | c.937+254C>G | - | IntronicSNV | - | 10/19 |
4-69341579-C-T | TMPRSS11E | c.530-400C>T | - | IntronicSNV | - | 6/9 |
16-55549860-G-C | LPCAT2 | c.171+6596G>C | - | IntronicSNV | - | 1/13 |
17-74283769-T-C | QRICH2 | c.3398+112A>G | - | IntronicSNV | - | 6/18 |
11-838419-A-G | CD151 | c.*227A>G | - | 3-UTRSNV | 9/9 | - |
7-80301004-T-C | CD36 | c.1007-234T>C | - | IntronicSNV | - | 10/13 |
20-34434916-G-A | PHF20 | c.256-356G>A | - | IntronicSNV | - | 3/17 |
12-58115271-T-C | OS9 | c.*579T>C | - | 3-UTRSNV | 15/15 | - |
7-150435443-C-T | GIMAP1-GIMAP5 | c.606+647C>T | - | IntronicSNV | - | 4/5 |
10-100171028-G-T | PYROXD2 | c.128-313C>A | - | IntronicSNV | - | 1/15 |
7-6656897-A-C | ZNF853 | c.89A>C | p.Gln30Pro | Missense | 2/3 | - |
5-131821866-T-G | IRF1 | c.667+77A>C | - | IntronicSNV | - | 7/9 |
20-34367277-G-A | PHF20 | c.-33+7276G>A | - | intron_variant | - | 1/17 |
6-41199885-A-G | TREML4 | c.506+2025A>G | - | IntronicSNV | - | 4/5 |
17-17208232-G-A | NT5M | c.267+1101G>A | - | IntronicSNV | - | 1/4 |
11-58966176-C-T | DTX4 | c.1537-981C>T | - | IntronicSNV | - | 7/8 |
3-52855229-T-C | ITIH4 | c.1540-83A>G | - | IntronicSNV | - | 11/23 |
17-56440542-G-A | RNF43 | c.582+94C>T | - | IntronicSNV | - | 5/9 |
7-128692710-C-T | TNPO3 | c.120+1995G>A | - | IntronicSNV | - | 1/22 |
11-63871558-G-A | FLRT1 | c.-145G>A | - | 5_prime_UTR_variant | 1/2 | - |
12-121160615-A-C | UNC119B | c.*2780A>C | - | 3-UTRSNV | 5/5 | - |
22-41272143-T-C | XPNPEP3 | c.182-5631T>C | - | IntronicSNV | - | 2/9 |
19-5092450-G-T | KDM4B | c.918+9935G>T | - | IntronicSNV | - | 9/22 |
12-113405181-A-C | OAS3 | c.2690-42A>C | - | IntronicSNV | - | 12/15 |
5-112366678-A-G | MCC | c.2757-1925T>C | - | IntronicSNV | - | 17/18 |
11-76369913-G-A | LRRC32 | c.*735C>T | - | 3-UTRSNV | 3/3 | - |
2-219600316-A-T | TTLL4 | c.1-2084A>T | - | IntronicSNV | - | 2/19 |
17-42400480-A-G | SLC25A39 | c.145+172T>C | - | IntronicSNV | - | 3/11 |
2-198106829-T-C | ANKRD44 | c.28-54999A>G | - | IntronicSNV | - | 1/9 |
5-96118065-T-G | ERAP1 | c.2286-507A>C | - | IntronicSNV | - | 15/19 |
10-90984623-A-G | LIPA | c.675+226T>C | - | IntronicSNV | - | 6/9 |
12-121160615-A-G | UNC119B | c.*2780A>G | - | 3-UTRSNV | 5/5 | - |
12-113378081-T-A | OAS3 | c.178-1294T>A | - | IntronicSNV | - | 1/15 |
4-37860967-C-T | PGM2 | c.1737-2164C>T | - | IntronicSNV | - | 13/13 |
12-129556460-T-C | TMEM132D | c.*1960A>G | - | 3-UTRSNV | 9/9 | - |
7-128635267-G-A | TNPO3 | c.1159-1299C>T | - | IntronicSNV | - | 8/22 |
10-100170383-G-C | PYROXD2 | c.147+313C>G | - | IntronicSNV | - | 2/15 |
11-71150520-T-G | DHCR7 | c.627-391A>C | - | IntronicSNV | - | 6/8 |
17-56584205-A-G | MTMR4 | c.890T>C | p.Val297Ala | Missense | 10/19 | - |
1-161483977-C-G | FCGR2A | c.777+255C>G | - | IntronicSNV | - | 6/6 |
1-11852300-C-G | MTHFR | c.1632+35G>C | - | IntronicSNV | - | 10/11 |
1-85420044-A-C | MCOLN2 | c.566-1831T>G | - | IntronicSNV | - | 4/13 |
8-33348000-A-G | MAK16 | c.447+143A>G | - | IntronicSNV | - | 6/9 |
8-33348000-A-T | MAK16 | c.447+143A>T | - | IntronicSNV | - | 6/9 |
11-63902534-C-T | MACROD1 | c.517+16177G>A | - | IntronicSNV | - | 3/10 |
17-5317008-A-C | NUP88 | c.593+321T>G | - | IntronicSNV | - | 3/16 |
2-219612282-A-G | TTLL4 | c.2250-38A>G | - | IntronicSNV | - | 10/19 |
5-96129512-A-T | ERAP1 | c.1068T>A | p.Ala356Ala | Synonymous | 6/20 | - |
22-42340508-C-T | CENPM | c.310+721G>A | - | IntronicSNV | - | 4/5 |
10-73598904-A-G | PSAP | c.41-4642T>C | - | IntronicSNV | - | 1/13 |
3-151007226-G-A | MED12L | c.2146-60621G>A | - | IntronicSNV | - | 14/42 |
5-112358131-T-A | MCC | c.*4868A>T | - | 3-UTRSNV | 19/19 | - |
5-112358131-T-C | MCC | c.*4868A>G | - | 3-UTRSNV | 19/19 | - |
1-40955156-A-T | ZFP69 | c.347-45A>T | - | IntronicSNV | - | 4/5 |
5-112374562-C-A | MCC | c.2756+4665G>T | - | IntronicSNV | - | 17/18 |
11-124940141-A-G | SLC37A2 | c.60-6512A>G | - | IntronicSNV | - | 1/18 |
20-25250577-T-C | PYGB | c.424+734T>C | - | IntronicSNV | - | 3/19 |
20-25250577-T-G | PYGB | c.424+734T>G | - | IntronicSNV | - | 3/19 |
22-42340508-C-G | CENPM | c.310+721G>C | - | IntronicSNV | - | 4/5 |
22-42340508-C-A | CENPM | c.310+721G>T | - | IntronicSNV | - | 4/5 |
21-46876306-G-A | COL18A1 | c.646+216G>A | - | IntronicSNV | - | 1/40 |
6-2954557-C-T | SERPINB6 | c.442+269G>A | - | IntronicSNV | - | 5/7 |
18-61625358-T-C | HMSD | c.223-2034T>C | - | IntronicSNV | - | 3/3 |
6-163943488-G-C | QKI | c.403-12526G>C | - | IntronicSNV | - | 3/7 |
6-163943488-G-A | QKI | c.403-12526G>A | - | IntronicSNV | - | 3/7 |
5-96107774-C-T | ERAP1 | c.2818+4334G>A | - | IntronicSNV | - | 19/19 |
20-34419884-G-A | PHF20 | c.84-10611G>A | - | IntronicSNV | - | 2/17 |
6-163872393-G-T | QKI | c.143-3918G>T | - | IntronicSNV | - | 1/7 |
5-153647261-C-G | GALNT10 | c.160-27115C>G | - | IntronicSNV | - | 1/11 |
16-56400847-T-A | AMFR | c.1599+509A>T | - | IntronicSNV | - | 12/13 |
1-207297680-T-C | C4BPA | c.675T>C | p.Gly225Gly | Synonymous | 6/12 | - |
16-56403899-C-G | AMFR | c.1381-660G>C | - | IntronicSNV | - | 10/13 |
7-128673205-G-A | TNPO3 | c.121-14994C>T | - | IntronicSNV | - | 1/22 |
17-45385012-C-T | ITGB3 | c.2301+9C>T | - | IntronicSNV | - | 14/14 |
6-56871297-G-A | BEND6 | c.299-8634G>A | - | IntronicSNV | - | 3/6 |
6-163905683-A-C | QKI | c.402+5755A>C | - | IntronicSNV | - | 3/7 |
19-6939699-T-C | ADGRE1 | c.2599-336T>C | - | IntronicSNV | - | 19/19 |
7-30091123-G-A | PLEKHA8 | c.638+1033G>A | - | IntronicSNV | - | 6/12 |
3-119437116-A-G | MAATS1 | c.682+2526A>G | - | IntronicSNV | - | 6/17 |
22-42910769-G-A | RRP7A | c.477C>T | p.Tyr159Tyr | Synonymous | 5/7 | - |
2-119721010-T-C | MARCO | c.98-5726T>C | - | IntronicSNV | - | 1/16 |
6-159210605-C-G | EZR | c.13-202G>C | - | IntronicSNV | - | 1/12 |
10-100156853-T-C | PYROXD2 | c.625+249A>G | - | IntronicSNV | - | 6/15 |
14-77650093-T-C | TMEM63C | c.-77+1856T>C | - | intron_variant | - | 1/23 |
10-100154247-G-A | PYROXD2 | c.785+706C>T | - | IntronicSNV | - | 8/15 |
16-56412526-T-G | AMFR | c.1380+7305A>C | - | IntronicSNV | - | 10/13 |
16-56412526-T-C | AMFR | c.1380+7305A>G | - | IntronicSNV | - | 10/13 |
1-151844650-G-A | THEM4 | c.*2714C>T | - | 3-UTRSNV | 6/6 | - |
19-55486167-G-C | NLRP2 | c.325+255G>C | - | IntronicSNV | - | 3/12 |
19-55486167-G-A | NLRP2 | c.325+255G>A | - | IntronicSNV | - | 3/12 |
11-8424590-G-A | STK33 | c.1345-10333C>T | - | IntronicSNV | - | 13/13 |
2-113954879-A-C | PSD4 | c.2387-262A>C | - | IntronicSNV | - | 12/16 |
12-113839499-G-A | SDS | c.1-1986C>T | - | IntronicSNV | - | 1/7 |
12-75732335-G-A | GLIPR1L1 | c.174+3653G>A | - | IntronicSNV | - | 1/4 |
16-55601388-A-G | LPCAT2 | c.1216-7155A>G | - | IntronicSNV | - | 11/13 |
22-42218856-A-G | CCDC134 | c.565-2846A>G | - | IntronicSNV | - | 6/6 |
22-42218856-A-C | CCDC134 | c.565-2846A>C | - | IntronicSNV | - | 6/6 |
16-2011064-T-C | NDUFB10 | c.131-90T>C | - | IntronicSNV | - | 1/3 |
9-91953252-T-C | SECISBP2 | c.1090-121T>C | - | IntronicSNV | - | 7/16 |
19-1090803-A-G | POLR2E | c.429+104T>C | - | IntronicSNV | - | 4/7 |
9-33140976-G-A | B4GALT1 | c.413-5554C>T | - | IntronicSNV | - | 1/5 |
3-121993247-A-G | CASR | c.1378-1412A>G | - | IntronicSNV | - | 4/6 |
16-18853349-T-C | SMG1 | c.6466+181A>G | - | IntronicSNV | - | 40/62 |
2-190619486-G-C | OSGEPL1 | c.609+413C>G | - | IntronicSNV | - | 3/8 |
1-151958144-A-G | S100A10 | c.132+431T>C | - | IntronicSNV | - | 2/2 |
16-55612032-T-C | LPCAT2 | c.1315-989T>C | - | IntronicSNV | - | 12/13 |
6-163914947-G-T | QKI | c.402+15019G>T | - | IntronicSNV | - | 3/7 |
5-6608150-T-A | NSUN2 | c.1324-653A>T | - | IntronicSNV | - | 12/18 |
17-29627297-G-T | NF1 | c.4773-25541G>T | - | IntronicSNV | - | 35/56 |
20-34362326-A-T | PHF20 | c.-33+2325A>T | - | intron_variant | - | 1/17 |
16-31279536-T-C | ITGAM | c.427+2068T>C | - | IntronicSNV | - | 5/29 |
1-16530049-C-T | ARHGEF19 | c.1908-980G>A | - | IntronicSNV | - | 12/15 |
9-130297246-C-T | FAM129B | c.56-3189G>A | - | IntronicSNV | - | 1/13 |
6-26405264-G-C | BTN3A1 | c.1-528G>C | - | IntronicSNV | - | 1/9 |
22-44388817-T-C | SAMM50 | c.1364+2531T>C | - | IntronicSNV | - | 14/14 |
7-128621204-A-G | TNPO3 | c.1859+1098T>C | - | IntronicSNV | - | 14/22 |
16-56510601-C-T | OGFOD1 | c.*484C>T | - | 3-UTRSNV | 13/13 | - |
12-31228738-G-A | DDX11 | c.-5+1713G>A | - | intron_variant | - | 1/26 |
6-28411220-T-G | ZSCAN23 | c.-122A>C | - | 5_prime_UTR_variant | 1/4 | - |
5-450710-C-T | EXOC3 | c.365-2775C>T | - | IntronicSNV | - | 3/12 |
19-53393559-C-A | ZNF320 | c.1-51G>T | - | 5-UTRSNV | - | 1/4 |
11-63885305-C-T | FLRT1 | c.1566C>T | p.Pro522Pro | Synonymous | 2/2 | - |
4-17518920-C-T | CLRN2 | c.253+1778C>T | - | IntronicSNV | - | 1/2 |
17-74279445-T-C | QRICH2 | c.3514-1249A>G | - | IntronicSNV | - | 7/18 |
7-129934219-T-C | CPA4 | c.68+1131T>C | - | IntronicSNV | - | 1/10 |
10-134087990-A-C | STK32C | c.263-28531T>G | - | IntronicSNV | - | 1/11 |
11-117554747-T-C | DSCAML1 | c.511+92759A>G | - | intron_variant | - | 3/32 |
16-88970566-G-A | CBFA2T3 | c.152-2502C>T | - | IntronicSNV | - | 1/11 |
16-31368178-T-C | ITGAX | c.247+129T>C | - | IntronicSNV | - | 3/29 |
19-54743217-C-T | LILRA6 | c.1310-252G>A | - | IntronicSNV | - | 7/7 |
16-56535613-A-C | BBS2 | c.1081-204T>G | - | IntronicSNV | - | 9/16 |
3-128983459-T-C | COPG1 | c.1224+617T>C | - | IntronicSNV | - | 13/23 |
11-12896590-A-G | TEAD1 | c.331-4665A>G | - | IntronicSNV | - | 5/12 |
6-108026008-C-T | SCML4 | c.*396G>A | - | 3-UTRSNV | 8/8 | - |
1-153595381-G-A | S100A13 | c.153+3415C>T | - | IntronicSNV | - | 3/3 |
6-17979139-T-G | KIF13A | c.146+8146A>C | - | IntronicSNV | - | 2/37 |
5-96137204-G-A | ERAP1 | c.525-501C>T | - | IntronicSNV | - | 2/19 |
2-132234986-A-G | TUBA3D | c.4-751A>G | - | IntronicSNV | - | 1/4 |
7-75601867-G-T | POR | c.237+88G>T | - | IntronicSNV | - | 3/15 |
2-30704945-T-C | LCLAT1 | c.110+22357T>C | - | IntronicSNV | - | 2/6 |
4-38777236-T-G | TLR10 | c.1-25A>C | - | 5-UTRSNV | 2/2 | - |
6-163843218-T-C | QKI | c.142+6851T>C | - | IntronicSNV | - | 1/7 |
17-42885466-C-T | GJC1 | c.-96-629G>A | - | intron_variant | - | 1/2 |
10-11278123-A-G | CELF2 | c.262-12993A>G | - | IntronicSNV | - | 3/14 |
19-7694021-A-C | XAB2 | c.51+342T>G | - | IntronicSNV | - | 1/18 |
19-39435485-G-A | FBXO17 | c.693+124C>T | - | IntronicSNV | - | 5/5 |
12-58124534-C-A | AGAP2 | c.1300+40G>T | - | IntronicSNV | - | 11/17 |
2-160082724-C-T | TANC1 | c.3879+434C>T | - | IntronicSNV | - | 24/26 |
7-75601867-G-A | POR | c.237+88G>A | - | IntronicSNV | - | 3/15 |
5-112364945-A-G | MCC | c.2757-192T>C | - | IntronicSNV | - | 17/18 |
16-29698625-G-T | QPRT | c.14-7360G>T | - | IntronicSNV | - | 1/3 |
10-100167276-A-C | PYROXD2 | c.315+63T>G | - | IntronicSNV | - | 4/15 |
15-90414642-C-G | AP3S2 | c.345+65G>C | - | IntronicSNV | - | 4/5 |
15-90414642-C-T | AP3S2 | c.345+65G>A | - | IntronicSNV | - | 4/5 |
20-33857544-C-T | MMP24 | c.1195-19C>T | - | IntronicSNV | - | 6/8 |
5-74031525-G-A | GFM2 | c.1510+1096C>T | - | IntronicSNV | - | 15/20 |
4-39031842-C-G | TMEM156 | c.88+2004G>C | - | IntronicSNV | - | 1/6 |
8-125587871-G-C | MTSS1 | c.461-7094C>G | - | IntronicSNV | - | 6/13 |
1-160976000-C-T | F11R | c.65-4857G>A | - | IntronicSNV | - | 1/9 |
17-80044726-G-C | FASN | c.3427+200C>G | - | IntronicSNV | - | 21/42 |
17-80044726-G-A | FASN | c.3427+200C>T | - | IntronicSNV | - | 21/42 |
16-55525160-C-T | MMP2 | c.1031-553C>T | - | IntronicSNV | - | 7/12 |
6-163908388-T-A | QKI | c.402+8460T>A | - | IntronicSNV | - | 3/7 |
22-26921725-A-G | TPST2 | c.*516T>C | - | 3_prime_UTR_variant | 7/7 | - |
22-36870845-A-C | TXN2 | c.387+1935T>G | - | IntronicSNV | - | 3/3 |
17-74290566-C-A | QRICH2 | c.208-464G>T | - | IntronicSNV | - | 3/18 |
9-33935073-C-A | UBAP2 | c.1969+764G>T | - | IntronicSNV | - | 17/28 |
9-33935073-C-G | UBAP2 | c.1969+764G>C | - | IntronicSNV | - | 17/28 |
16-11445552-T-C | RMI2 | c.*905T>C | - | 3-UTRSNV | 2/2 | - |
10-100171471-A-G | PYROXD2 | c.128-756T>C | - | IntronicSNV | - | 1/15 |
16-89802396-G-T | ZNF276 | c.1250-1818G>T | - | IntronicSNV | - | 9/10 |
5-464153-C-T | EXOC3 | c.1654-252C>T | - | IntronicSNV | - | 9/12 |
11-30255982-A-G | FSHB | c.*635A>G | - | 3-UTRSNV | 3/3 | - |
16-69464474-C-T | CYB5B | c.174+5714C>T | - | IntronicSNV | - | 1/4 |
11-63908720-C-T | MACROD1 | c.517+9991G>A | - | IntronicSNV | - | 3/10 |
16-2010086-C-A | NDUFB10 | c.130+331C>A | - | IntronicSNV | - | 1/3 |
11-114270604-C-A | C11orf71 | c.343+107G>T | - | IntronicSNV | - | 1/1 |
11-33061738-C-G | TCP11L1 | c.-25+400C>G | - | intron_variant | - | 1/9 |
11-33061738-C-T | TCP11L1 | c.-25+400C>T | - | intron_variant | - | 1/9 |
1-42745975-G-C | FOXJ3 | c.45-1632C>G | - | IntronicSNV | - | 2/12 |
5-153790949-A-G | GALNT10 | c.1387-1500A>G | - | IntronicSNV | - | 9/11 |
21-47850405-C-T | PCNT | c.7914-16C>T | - | IntronicSNV | - | 36/46 |
10-73512373-C-G | VSIR | c.704+359G>C | - | IntronicSNV | - | 5/6 |
16-55518610-C-G | MMP2 | c.379+534C>G | - | IntronicSNV | - | 3/12 |
14-23058084-A-G | DAD1 | c.1-21T>C | - | 5-UTRSNV | 1/3 | - |
14-23058084-A-C | DAD1 | c.1-21T>G | - | 5-UTRSNV | 1/3 | - |
14-23058084-A-T | DAD1 | c.1-21T>A | - | 5-UTRSNV | 1/3 | - |
1-169665551-G-T | SELL | c.1100+125C>A | - | intron_variant | - | 8/8 |
16-4540227-A-G | HMOX2 | c.-42+6472A>G | - | intron_variant | - | 2/6 |
7-72252931-C-T | TYW1B | c.847-10387G>A | - | IntronicSNV | - | 6/14 |
7-72252931-C-A | TYW1B | c.847-10387G>T | - | IntronicSNV | - | 6/14 |
1-151964879-T-C | S100A10 | c.-22+1349A>G | - | intron_variant | - | 1/2 |
17-6902760-A-G | ALOX12 | c.782A>G | p.Gln261Arg | Missense | 6/14 | - |
9-27151394-G-A | TEK | c.53-6435G>A | - | IntronicSNV | - | 1/22 |
7-6545335-G-A | GRID2IP | c.2632+116C>T | - | IntronicSNV | - | 14/21 |
10-100148951-G-C | PYROXD2 | c.1293-686C>G | - | IntronicSNV | - | 12/15 |
10-100148951-G-T | PYROXD2 | c.1293-686C>A | - | IntronicSNV | - | 12/15 |
1-12059412-C-T | MFN2 | c.816+260C>T | - | IntronicSNV | - | 8/18 |
16-89630311-G-C | RPL13 | c.*861G>C | - | 3-UTRSNV | 6/6 | - |
16-89630311-G-A | RPL13 | c.*861G>A | - | 3-UTRSNV | 6/6 | - |
10-100167396-G-A | PYROXD2 | c.258C>T | p.Arg86Arg | Synonymous | 4/16 | - |
7-66570410-G-C | TYW1 | c.1562+6705G>C | - | IntronicSNV | - | 12/15 |
16-55534236-G-A | MMP2 | c.1619+1876G>A | - | IntronicSNV | - | 11/12 |
6-163932583-T-G | QKI | c.403-23431T>G | - | IntronicSNV | - | 3/7 |
19-40901011-G-C | PRX | c.*3453C>G | - | 3-UTRSNV | 6/6 | - |
22-41540934-C-G | EP300 | c.2054-1809C>G | - | IntronicSNV | - | 10/30 |
8-10891395-C-G | XKR6 | c.765-109055G>C | - | IntronicSNV | - | 1/2 |
20-45557065-A-G | EYA2 | c.-11+33439A>G | - | intron_variant | - | 1/15 |
1-109968410-A-C | PSMA5 | c.29+514T>G | - | IntronicSNV | - | 1/8 |
14-24767142-A-T | DHRS1 | c.150+1021T>A | - | IntronicSNV | - | 2/8 |
10-100170037-A-G | PYROXD2 | c.147+659T>C | - | IntronicSNV | - | 2/15 |
13-21963121-G-A | ZDHHC20 | c.728-1348C>T | - | IntronicSNV | - | 8/11 |
20-34266883-A-T | NFS1 | c.790+1776T>A | - | IntronicSNV | - | 7/12 |
14-59952947-A-G | JKAMP | c.5-502A>G | - | IntronicSNV | - | 1/6 |
19-55548558-G-A | GP6 | c.34+1013C>T | - | IntronicSNV | - | 1/7 |
17-41213996-C-T | BRCA1 | c.5193+1354G>A | - | IntronicSNV | - | 18/22 |
16-55561080-T-A | LPCAT2 | c.312-1209T>A | - | IntronicSNV | - | 2/13 |
16-55561080-T-C | LPCAT2 | c.312-1209T>C | - | IntronicSNV | - | 2/13 |
7-128676724-T-A | TNPO3 | c.120+17981A>T | - | IntronicSNV | - | 1/22 |
3-46303184-A-G | CCR3 | c.1-2711A>G | - | IntronicSNV | - | 1/2 |
11-61623140-C-A | FADS2 | c.745-1343C>A | - | IntronicSNV | - | 5/11 |
16-68591350-A-G | ZFP90 | c.34-551A>G | - | IntronicSNV | - | 2/4 |
6-160098222-G-A | SOD2 | c.*5303C>T | - | IntergenicSNV | 5/5 | - |
5-112321070-T-C | DCP2 | c.54-462T>C | - | IntronicSNV | - | 1/10 |
19-5092450-G-A | KDM4B | c.918+9935G>A | - | IntronicSNV | - | 9/22 |
19-42306326-A-G | CEACAM3 | c.424+4446A>G | - | IntronicSNV | - | 2/6 |
14-21250124-G-A | RNASE6 | c.266G>A | p.Arg89Gln | Missense | 2/2 | - |
2-101609827-C-G | NPAS2 | c.2130C>G | p.Thr710Thr | Synonymous | 20/21 | - |
2-101609827-C-T | NPAS2 | c.2130C>T | p.Thr710Thr | Synonymous | 20/21 | - |
1-8926329-C-A | ENO1 | c.667+9G>T | - | IntronicSNV | - | 7/11 |
12-50055342-C-T | FMNL3 | c.452+407G>A | - | IntronicSNV | - | 5/25 |
7-128645292-A-G | TNPO3 | c.553-79T>C | - | IntronicSNV | - | 4/22 |
6-163908942-A-G | QKI | c.402+9014A>G | - | IntronicSNV | - | 3/7 |
1-235652513-T-C | B3GALNT2 | c.321A>G | p.Glu107Glu | Synonymous | 3/12 | - |
9-123161735-A-T | CDK5RAP2 | c.5451+1285T>A | - | IntronicSNV | - | 35/37 |
1-160966844-C-T | F11R | c.*1817G>A | - | 3-UTRSNV | 10/10 | - |
2-219612282-A-T | TTLL4 | c.2250-38A>T | - | IntronicSNV | - | 10/19 |
6-159210605-C-A | EZR | c.13-202G>T | - | IntronicSNV | - | 1/12 |
4-10097976-C-T | WDR1 | c.139-7611G>A | - | IntronicSNV | - | 2/11 |
16-56380502-G-A | GNAO1 | c.724-4794G>A | - | IntronicSNV | - | 6/8 |
16-68377848-C-T | PRMT7 | c.928-1730C>T | - | IntronicSNV | - | 9/18 |
12-113323067-C-T | RPH3A | c.1424+1860C>T | - | IntronicSNV | - | 15/20 |
10-100174721-T-C | PYROXD2 | c.127+45A>G | - | IntronicSNV | - | 1/15 |
5-131821788-C-G | IRF1 | c.667+155G>C | - | IntronicSNV | - | 7/9 |
5-131821788-C-A | IRF1 | c.667+155G>T | - | IntronicSNV | - | 7/9 |
2-74699778-C-A | MRPL53 | c.10G>T | p.Ala4Ser | Missense | 1/3 | - |
10-3182026-C-G | PITRM1 | c.2775-785G>C | - | IntronicSNV | - | 24/26 |
17-25964669-G-A | LGALS9 | c.40-620G>A | - | IntronicSNV | - | 1/10 |
1-109723640-C-A | KIAA1324 | c.953-4027C>A | - | IntronicSNV | - | 7/21 |
13-21245468-C-T | IFT88 | c.2242+290C>T | - | IntronicSNV | - | 24/25 |
15-81596590-T-A | IL16 | c.3420+599T>A | - | IntronicSNV | - | 16/18 |
7-128656831-C-T | TNPO3 | c.395+206G>A | - | IntronicSNV | - | 3/22 |
3-121432177-G-T | GOLGB1 | c.1389+1531C>A | - | IntronicSNV | - | 10/21 |
16-55519535-G-C | MMP2 | c.528G>C | p.Gly176Gly | Synonymous | 5/13 | - |
4-103680984-A-G | MANBA | c.177+891T>C | - | IntronicSNV | - | 1/16 |
22-28815629-A-G | TTC28 | c.382-112998T>C | - | IntronicSNV | - | 2/22 |
12-4747570-T-C | AKAP3 | c.1-208A>G | - | IntronicSNV | - | 1/5 |
18-72912469-C-T | ZADH2 | c.*902G>A | - | 3-UTRSNV | 2/2 | - |
16-56446612-C-T | AMFR | c.348+1552G>A | - | IntronicSNV | - | 2/13 |
22-38085523-G-A | NOL12 | c.381+524G>A | - | IntronicSNV | - | 4/5 |
5-131821788-C-T | IRF1 | c.667+155G>A | - | IntronicSNV | - | 7/9 |
5-79511472-T-G | SERINC5 | c.28-12600A>C | - | IntronicSNV | - | 1/12 |
6-163922028-A-T | QKI | c.402+22100A>T | - | IntronicSNV | - | 3/7 |
2-74699778-C-T | MRPL53 | c.10G>A | p.Ala4Thr | Missense | 1/3 | - |
1-248023966-C-T | TRIM58 | c.468C>T | p.Asp156Asp | Synonymous | 2/6 | - |
10-100156990-T-A | PYROXD2 | c.625+112A>T | - | IntronicSNV | - | 6/15 |
17-79658100-C-T | HGS | c.537+328C>T | - | IntronicSNV | - | 7/21 |
22-42981678-T-C | POLDIP3 | c.*119A>G | - | 3-UTRSNV | 9/9 | - |
10-100147060-A-G | PYROXD2 | c.1452T>C | p.Phe484Phe | Synonymous | 14/16 | - |
10-100147060-A-C | PYROXD2 | c.1452T>G | p.Phe484Leu | Missense | 14/16 | - |
11-126073824-T-C | RPUSD4 | c.895-272A>G | - | IntronicSNV | - | 6/6 |
11-63849812-C-T | MACROD1 | c.518-67059G>A | - | IntronicSNV | - | 3/10 |
10-100154605-T-G | PYROXD2 | c.785+348A>C | - | IntronicSNV | - | 8/15 |
12-113425679-T-C | OAS2 | c.*495T>C | - | 3-UTRSNV | 2/2 | - |
11-94213905-G-T | MRE11 | c.315-978C>A | - | IntronicSNV | - | 4/19 |
7-128641226-G-C | TNPO3 | c.759C>G | p.Leu253Leu | Synonymous | 6/23 | - |
10-100170383-G-A | PYROXD2 | c.147+313C>T | - | IntronicSNV | - | 2/15 |
20-43516156-G-A | YWHAB | c.-98-133G>A | - | intron_variant | - | 1/6 |
5-96121152-A-T | ERAP1 | c.1943+340T>A | - | IntronicSNV | - | 13/19 |
5-96121152-A-C | ERAP1 | c.1943+340T>G | - | IntronicSNV | - | 13/19 |
1-151962689-G-T | S100A10 | c.-22+3539C>A | - | intron_variant | - | 1/2 |
10-100176615-G-A | HPS1 | c.*706C>T | - | 3-UTRSNV | 20/20 | - |
10-100176615-G-C | HPS1 | c.*706C>G | - | 3-UTRSNV | 20/20 | - |
20-43522834-C-T | YWHAB | c.-4+6451C>T | - | intron_variant | - | 2/6 |
9-101435731-G-A | GABBR2 | c.321+34968C>T | - | IntronicSNV | - | 1/18 |
11-118127629-T-C | MPZL2 | c.*336A>G | - | IntronicSNV | 6/6 | - |
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 | - |
16-55608032-G-C | LPCAT2 | c.1216-511G>C | - | IntronicSNV | - | 11/13 |
6-25409314-T-C | CARMIL1 | c.139-11028T>C | - | IntronicSNV | - | 2/36 |
10-100152373-T-C | PYROXD2 | c.928-50A>G | - | IntronicSNV | - | 9/15 |
6-151392273-A-G | MTHFD1L | c.2848-21330A>G | - | IntronicSNV | - | 26/27 |
19-2790394-G-A | THOP1 | c.17-25G>A | - | IntronicSNV | - | 1/12 |
19-48885918-C-T | KDELR1 | c.*632G>A | - | 3-UTRSNV | 5/5 | - |
16-55533270-A-G | MMP2 | c.1619+910A>G | - | IntronicSNV | - | 11/12 |
11-17320797-G-T | NUCB2 | c.253-2494G>T | - | IntronicSNV | - | 4/13 |
15-41813279-C-A | RPAP1 | c.3105G>T | p.Arg1035Ser | Missense | 22/25 | - |
19-56247844-A-G | NLRP9 | c.280+1617T>C | - | IntronicSNV | - | 1/8 |
2-99815146-T-G | MRPL30 | c.*2978T>G | - | 3-UTRSNV | 6/6 | - |
10-73520391-C-T | VSIR | c.568+234G>A | - | IntronicSNV | - | 3/6 |
6-163887376-G-A | QKI | c.285+10923G>A | - | IntronicSNV | - | 2/7 |
8-26260910-A-G | BNIP3L | c.358-4606A>G | - | IntronicSNV | - | 3/5 |
15-41813279-C-T | RPAP1 | c.3105G>A | p.Arg1035Arg | Synonymous | 22/25 | - |
17-35899934-G-A | SYNRG | c.3366+548C>T | - | IntronicSNV | - | 16/21 |
16-56445999-C-A | AMFR | c.348+2165G>T | - | IntronicSNV | - | 2/13 |
12-47595675-A-C | PCED1B | c.-525-14330A>C | - | intron_variant | - | 2/3 |
2-96993884-A-G | ITPRIPL1 | c.1539A>G | p.Pro513Pro | Synonymous | 1/1 | - |
9-139649379-C-T | LCN8 | c.447+208G>A | - | IntronicSNV | - | 6/6 |
8-142201477-T-C | DENND3 | c.3179-953T>C | - | intron_variant | - | 20/22 |
19-7696138-G-A | PET100 | c.139-221G>A | - | IntronicSNV | - | 3/3 |
5-96125785-G-T | ERAP1 | c.1524+214C>A | - | IntronicSNV | - | 10/19 |
10-100157593-T-C | PYROXD2 | c.472-338A>G | - | IntronicSNV | - | 5/15 |
17-42953409-A-G | EFTUD2 | c.762T>C | p.Thr254Thr | Synonymous | 10/28 | - |
16-56436824-A-G | AMFR | c.974+73T>C | - | IntronicSNV | - | 7/13 |
18-61620766-G-A | HMSD | c.72+5G>A | - | IntronicSNV | - | 2/3 |
18-61620766-G-C | HMSD | c.72+5G>C | - | IntronicSNV | - | 2/3 |
12-113380708-A-T | OAS3 | c.460+1051A>T | - | IntronicSNV | - | 2/15 |
7-128644533-C-T | TNPO3 | c.696+537G>A | - | IntronicSNV | - | 5/22 |
10-100148542-C-T | PYROXD2 | c.1293-277G>A | - | IntronicSNV | - | 12/15 |
11-126100932-C-T | FAM118B | c.-8+1744C>T | - | intron_variant | - | 2/8 |
1-150958977-T-A | ANXA9 | c.552+86T>A | - | IntronicSNV | - | 8/13 |
7-75633209-T-C | STYXL1 | c.600-36A>G | - | IntronicSNV | - | 6/8 |
16-55613522-A-G | LPCAT2 | c.1450+366A>G | - | IntronicSNV | - | 13/13 |
16-55613522-A-C | LPCAT2 | c.1450+366A>C | - | IntronicSNV | - | 13/13 |
1-159277868-G-A | FCER1A | c.*146G>A | - | 3-UTRSNV | 7/7 | - |
7-128657277-T-C | TNPO3 | c.322-167A>G | - | IntronicSNV | - | 2/22 |
16-2036631-A-G | GFER | c.*602A>G | - | 3-UTRSNV | 3/3 | - |
8-142198718-A-T | DENND3 | c.2884-367A>T | - | intron_variant | - | 18/22 |
17-61901657-A-G | FTSJ3 | c.998+34T>C | - | IntronicSNV | - | 11/20 |
9-139649379-C-G | LCN8 | c.447+208G>C | - | IntronicSNV | - | 6/6 |
10-100155642-C-A | PYROXD2 | c.626-433G>T | - | IntronicSNV | - | 6/15 |
19-40948202-C-A | SERTAD3 | c.-7+32G>T | - | intron_variant | - | 1/1 |
19-40948202-C-T | SERTAD3 | c.-7+32G>A | - | intron_variant | - | 1/1 |
15-78421669-A-G | CIB2 | c.51+1838T>C | - | IntronicSNV | - | 1/5 |
1-38465315-G-A | FHL3 | c.1-231C>T | - | IntronicSNV | - | 1/5 |
4-57352319-A-G | SRP72 | c.904-172A>G | - | IntronicSNV | - | 8/16 |
8-41400313-G-A | GINS4 | c.*707G>A | - | 3-UTRSNV | 8/8 | - |
10-100160399-T-C | PYROXD2 | c.316-385A>G | - | IntronicSNV | - | 4/15 |
3-156263097-A-G | SSR3 | c.360-869T>C | - | IntronicSNV | - | 3/4 |
5-131822133-T-C | IRF1 | c.545-68A>G | - | IntronicSNV | - | 6/9 |
20-23065209-G-A | CD93 | c.1621C>T | p.Pro541Ser | Missense | 1/2 | - |
6-86279737-C-T | SNX14 | c.417+2118G>A | - | IntronicSNV | - | 4/28 |
11-833668-C-G | CD151 | c.-70+642C>G | - | intron_variant | - | 1/8 |
5-112355908-A-G | DCP2 | c.*6727A>G | - | 3-UTRSNV | 11/11 | - |
21-36210100-C-T | RUNX1 | c.533-3202G>A | - | IntronicSNV | - | 3/5 |
1-167607340-C-T | RCSD1 | c.6+7674C>T | - | IntronicSNV | - | 1/6 |
16-89542874-A-T | ANKRD11 | c.-145+13779T>A | - | intron_variant | - | 1/12 |
1-117991182-T-C | MAN1A2 | c.950+6235T>C | - | IntronicSNV | - | 6/12 |
3-58186719-C-G | DNASE1L3 | c.546+5G>C | - | IntronicSNV | - | 5/7 |
6-163920117-C-G | QKI | c.402+20189C>G | - | IntronicSNV | - | 3/7 |
6-163920117-C-T | QKI | c.402+20189C>T | - | IntronicSNV | - | 3/7 |
16-55548322-G-C | LPCAT2 | c.171+5058G>C | - | IntronicSNV | - | 1/13 |
10-100163597-C-T | PYROXD2 | c.316-3583G>A | - | IntronicSNV | - | 4/15 |
16-55562466-G-A | LPCAT2 | c.489G>A | p.Met163Ile | Missense | 3/14 | - |
11-833668-C-T | CD151 | c.-70+642C>T | - | intron_variant | - | 1/8 |
5-112355908-A-T | DCP2 | c.*6727A>T | - | 3-UTRSNV | 11/11 | - |
6-163870310-C-T | QKI | c.143-6001C>T | - | IntronicSNV | - | 1/7 |
6-163870310-C-A | QKI | c.143-6001C>A | - | IntronicSNV | - | 1/7 |
22-17590744-T-C | IL17RA | c.*34T>C | - | 3-UTRSNV | 13/13 | - |
13-111910292-G-A | ARHGEF7 | c.1014-9603G>A | - | IntronicSNV | - | 9/19 |
9-132569750-C-G | TOR1B | c.641+108C>G | - | IntronicSNV | - | 3/4 |
5-96104835-G-A | ERAP1 | c.2819-5903C>T | - | IntronicSNV | - | 19/19 |
1-167607340-C-G | RCSD1 | c.6+7674C>G | - | IntronicSNV | - | 1/6 |
1-160985708-A-G | F11R | c.64+5092T>C | - | IntronicSNV | - | 1/9 |
18-22017800-T-A | IMPACT | c.282-119T>A | - | IntronicSNV | - | 4/10 |
11-18119884-C-T | SAAL1 | c.250-1483G>A | - | IntronicSNV | - | 2/11 |
3-178763614-G-A | ZMAT3 | c.271-14827C>T | - | IntronicSNV | - | 3/6 |
20-61482099-T-G | TCFL5 | c.1380+3269A>C | - | IntronicSNV | - | 5/5 |
10-100155927-T-C | PYROXD2 | c.626-718A>G | - | IntronicSNV | - | 6/15 |
7-37964965-T-C | EPDR1 | c.269+4155T>C | - | IntronicSNV | - | 1/2 |
10-100151266-A-G | PYROXD2 | c.1063-427T>C | - | IntronicSNV | - | 10/15 |
6-5119696-C-T | LYRM4 | c.208-9971G>A | - | IntronicSNV | - | 2/2 |
11-74559446-G-A | XRRA1 | c.1418C>T | p.Thr473Met | Missense | 15/19 | - |
11-74559446-G-C | XRRA1 | c.1418C>G | p.Thr473Arg | Missense | 15/19 | - |
19-5124629-A-G | KDM4B | c.1315+4766A>G | - | IntronicSNV | - | 11/22 |
12-122079183-C-T | ORAI1 | c.546C>T | p.Thr182Thr | Synonymous | 2/2 | - |
16-55563016-G-A | LPCAT2 | c.529+510G>A | - | IntronicSNV | - | 3/13 |
8-17914117-T-C | ASAH1 | c.*926A>G | - | 3-UTRSNV | 14/14 | - |
7-150438397-C-T | GIMAP1-GIMAP5 | c.655+382C>T | - | IntronicSNV | - | 5/5 |
2-88998689-T-C | RPIA | c.346+627T>C | - | IntronicSNV | - | 2/8 |
7-43915042-G-A | URGCP-MRPS24 | c.176-6067C>T | - | IntronicSNV | - | 4/6 |
20-25262769-G-A | PYGB | c.1504G>A | p.Asp502Asn | Missense | 12/20 | - |
11-692384-C-G | DEAF1 | c.290-786G>C | - | IntronicSNV | - | 1/11 |
9-98645674-G-A | ERCC6L2 | c.471+2099G>A | - | intron_variant | - | 2/13 |
16-460673-G-C | DECR2 | c.463-18G>C | - | IntronicSNV | - | 5/8 |
16-460673-G-A | DECR2 | c.463-18G>A | - | IntronicSNV | - | 5/8 |
16-84209864-G-T | DNAAF1 | c.2024G>T | p.Ser675Ile | Missense | 11/12 | - |
15-99913734-A-C | LRRC28 | c.1031+10264A>C | - | IntronicSNV | - | 9/9 |
17-18263957-G-C | SHMT1 | c.-20+2729C>G | - | intron_variant | - | 1/11 |
6-163927542-C-A | QKI | c.402+27614C>A | - | IntronicSNV | - | 3/7 |
16-31083324-G-T | ZNF668 | c.-23+1656C>A | - | intron_variant | - | 1/2 |
16-31083324-G-C | ZNF668 | c.-23+1656C>G | - | intron_variant | - | 1/2 |
16-31083324-G-A | ZNF668 | c.-23+1656C>T | - | intron_variant | - | 1/2 |
12-692908-G-A | NINJ2 | c.34-17564C>T | - | intron_variant | - | 1/3 |
4-977022-A-G | SLC26A1 | c.577-3730T>C | - | IntronicSNV | - | 2/2 |
11-61551356-T-G | MYRF | c.3033T>G | p.Ser1011Arg | Missense | 23/26 | - |
12-717138-G-A | NINJ2 | c.34-41794C>T | - | intron_variant | - | 1/3 |
5-96121243-C-T | ERAP1 | c.1943+249G>A | - | IntronicSNV | - | 13/19 |
20-34394541-C-T | PHF20 | c.83+5014C>T | - | IntronicSNV | - | 2/17 |
2-65468113-G-C | ACTR2 | c.159+1017G>C | - | IntronicSNV | - | 2/9 |
19-18567039-C-T | ELL | c.869+1976G>A | - | IntronicSNV | - | 6/11 |
13-111301996-C-A | CARS2 | c.1054+1385G>T | - | IntronicSNV | - | 10/14 |
7-128683547-T-A | TNPO3 | c.120+11158A>T | - | IntronicSNV | - | 1/22 |
7-128683547-T-C | TNPO3 | c.120+11158A>G | - | IntronicSNV | - | 1/22 |
20-1517979-G-A | SIRPD | c.422-23C>T | - | IntronicSNV | - | 2/3 |
19-45373565-G-A | NECTIN2 | c.479-1545G>A | - | IntronicSNV | - | 2/5 |
15-85383640-G-A | ALPK3 | c.1736G>A | p.Gly579Glu | Missense | 5/14 | - |
15-85383640-G-T | ALPK3 | c.1736G>T | p.Gly579Val | Missense | 5/14 | - |
10-100151305-A-G | PYROXD2 | c.1063-466T>C | - | IntronicSNV | - | 10/15 |
3-52566914-C-A | NT5DC2 | c.121+1635G>T | - | IntronicSNV | - | 1/13 |
7-1161158-T-C | C7orf50 | c.129+5735A>G | - | IntronicSNV | - | 2/4 |
2-96993884-A-C | ITPRIPL1 | c.1539A>C | p.Pro513Pro | Synonymous | 1/1 | - |
22-37967432-G-A | LGALS2 | c.89+424C>T | - | IntronicSNV | - | 2/3 |
2-85924384-C-G | GNLY | c.256-245C>G | - | IntronicSNV | - | 3/4 |
16-360888-A-G | AXIN1 | c.1020-819T>C | - | IntronicSNV | - | 3/10 |
4-187120211-C-A | CYP4V2 | c.775C>A | p.Gln259Lys | Missense | 6/11 | - |
17-30306414-C-G | SUZ12 | c.917+2781C>G | - | IntronicSNV | - | 8/15 |
17-30306414-C-T | SUZ12 | c.917+2781C>T | - | IntronicSNV | - | 8/15 |
11-10114120-T-C | SBF2 | c.142-49592A>G | - | IntronicSNV | - | 2/39 |
1-181018799-A-C | MR1 | c.329-348A>C | - | IntronicSNV | - | 3/6 |
2-3516085-C-T | ADI1 | c.240+1543G>A | - | IntronicSNV | - | 2/3 |
3-12372882-G-A | PPARG | c.-3+43363G>A | - | intron_variant | - | 1/6 |
12-58162739-A-G | METTL1 | c.*40T>C | - | 3-UTRSNV | 6/6 | - |
2-144467759-G-A | ARHGAP15 | c.1244+6666G>A | - | IntronicSNV | - | 13/13 |
2-191148558-G-A | HIBCH | c.438+3754C>T | - | IntronicSNV | - | 6/13 |
2-144467759-G-T | ARHGAP15 | c.1244+6666G>T | - | IntronicSNV | - | 13/13 |
19-37443625-T-G | ZNF568 | c.*1635T>G | - | 3-UTRSNV | 7/7 | - |
1-156287403-T-C | CCT3 | c.760-65A>G | - | IntronicSNV | - | 8/13 |
16-23864590-T-C | PRKCB | c.205+15863T>C | - | IntronicSNV | - | 2/16 |
5-76114963-C-G | F2RL1 | c.1-45C>G | - | 5-UTRSNV | 1/2 | - |
5-76114963-C-T | F2RL1 | c.1-45C>T | - | 5-UTRSNV | 1/2 | - |
7-150438161-T-G | GIMAP1-GIMAP5 | c.655+146T>G | - | IntronicSNV | - | 5/5 |
5-131676320-C-T | SLC22A4 | c.1507C>T | p.Leu503Phe | Missense | 9/10 | - |
1-12062361-C-A | MFN2 | c.1160+201C>A | - | IntronicSNV | - | 11/18 |
4-88230100-T-C | HSD17B13 | c.812+1295A>G | - | IntronicSNV | - | 6/6 |
10-76046923-G-T | ADK | c.195-27502G>T | - | IntronicSNV | - | 3/10 |
16-55609592-T-G | LPCAT2 | c.1314+951T>G | - | IntronicSNV | - | 12/13 |
16-55609592-T-A | LPCAT2 | c.1314+951T>A | - | IntronicSNV | - | 12/13 |
5-96126308-A-T | ERAP1 | c.1359T>A | p.Ser453Arg | Missense | 9/20 | - |
7-140033631-T-C | SLC37A3 | c.*1432A>G | - | 3-UTRSNV | 12/12 | - |
3-41851718-T-C | ULK4 | c.1848+9197A>G | - | IntronicSNV | - | 19/36 |
2-219582897-T-C | TTLL4 | c.-178+7137T>C | - | intron_variant | - | 1/19 |
11-63988102-C-G | FERMT3 | c.1506C>G | p.Leu502Leu | Synonymous | 12/15 | - |
10-100168102-C-A | PYROXD2 | c.148-348G>T | - | IntronicSNV | - | 2/15 |
5-112355668-C-G | DCP2 | c.*6487C>G | - | 3-UTRSNV | 11/11 | - |
16-56434742-G-A | AMFR | c.1085+903C>T | - | IntronicSNV | - | 8/13 |
16-56434742-G-C | AMFR | c.1085+903C>G | - | IntronicSNV | - | 8/13 |
20-5947608-G-C | MCM8 | c.876-474G>C | - | IntronicSNV | - | 8/18 |
2-121048712-T-C | RALB | c.501+1379T>C | - | IntronicSNV | - | 4/4 |
11-9270810-C-T | DENND5A | c.109+15698G>A | - | IntronicSNV | - | 1/22 |
16-48358368-A-G | LONP2 | c.1796-9759A>G | - | IntronicSNV | - | 11/14 |
12-6859797-T-C | MLF2 | c.270+82A>G | - | IntronicSNV | - | 5/8 |
1-205552105-G-A | MFSD4A | c.691-978G>A | - | IntronicSNV | - | 3/9 |
4-88230100-T-A | HSD17B13 | c.812+1295A>T | - | IntronicSNV | - | 6/6 |
5-112364079-T-C | MCC | c.2879+552A>G | - | IntronicSNV | - | 18/18 |
12-66513111-C-T | LLPH | c.*4509G>A | - | IntergenicSNV | 3/3 | - |
7-128640188-A-G | TNPO3 | c.1011+295T>C | - | IntronicSNV | - | 7/22 |
7-128625914-A-G | TNPO3 | c.1690+869T>C | - | IntronicSNV | - | 12/22 |
15-42552587-A-G | TMEM87A | c.504+569T>C | - | IntronicSNV | - | 6/19 |
20-34448773-G-T | PHF20 | c.421-2162G>T | - | IntronicSNV | - | 5/17 |
15-40949526-C-T | KNL1 | c.6595-27C>T | - | IntronicSNV | - | 23/25 |
4-88230100-T-G | HSD17B13 | c.812+1295A>C | - | IntronicSNV | - | 6/6 |
6-163854303-G-T | QKI | c.142+17936G>T | - | IntronicSNV | - | 1/7 |
5-112364079-T-G | MCC | c.2879+552A>C | - | IntronicSNV | - | 18/18 |
6-26463271-T-A | BTN2A1 | c.431-201T>A | - | IntronicSNV | - | 3/7 |
12-96403199-G-A | LTA4H | c.1380-273C>T | - | IntronicSNV | - | 14/18 |
2-242031090-G-A | SNED1 | c.*39G>A | - | 3_prime_UTR_variant | 32/32 | - |
1-175110955-C-A | TNN | c.3596-2568C>A | - | IntronicSNV | - | 17/18 |
9-116113396-C-T | BSPRY | c.201+1336C>T | - | IntronicSNV | - | 1/5 |
20-34448773-G-C | PHF20 | c.421-2162G>C | - | IntronicSNV | - | 5/17 |
5-153649114-A-G | GALNT10 | c.160-25262A>G | - | IntronicSNV | - | 1/11 |
12-113408208-G-C | OAS3 | c.*430G>C | - | 3-UTRSNV | 16/16 | - |
3-134200205-C-T | ANAPC13 | c.99+1443G>A | - | IntronicSNV | - | 2/2 |
10-82254490-C-T | TSPAN14 | c.81+5420C>T | - | IntronicSNV | - | 2/8 |
9-37775177-C-T | TRMT10B | c.721-1102C>T | - | IntronicSNV | - | 7/8 |
7-66665886-A-G | TYW1 | c.1977+5562A>G | - | IntronicSNV | - | 15/15 |
3-42653656-G-A | NKTR | c.59-5406G>A | - | IntronicSNV | - | 2/16 |
8-17134982-A-G | VPS37A | c.713+1006A>G | - | IntronicSNV | - | 6/11 |
7-102989726-T-G | PSMC2 | c.70+1498T>G | - | IntronicSNV | - | 1/11 |
3-10164783-A-G | BRK1 | c.119-2527A>G | - | IntronicSNV | - | 1/2 |
20-34252006-C-T | RBM12 | c.-108+676G>A | - | intron_variant | - | 1/2 |
17-76685106-A-G | CYTH1 | c.891+3393T>C | - | IntronicSNV | - | 10/12 |
16-3599655-G-A | NLRC3 | c.2519+42C>T | - | intron_variant | - | 13/20 |
13-43613458-A-T | DNAJC15 | c.108+15588A>T | - | IntronicSNV | - | 1/5 |
6-163961027-C-T | QKI | c.546+4870C>T | - | IntronicSNV | - | 4/7 |
1-9926229-T-C | CTNNBIP1 | c.187+5016A>G | - | IntronicSNV | - | 5/5 |
1-161012760-T-C | USF1 | c.9-88A>G | - | IntronicSNV | - | 2/10 |
2-103054449-G-A | IL18RAP | c.730+627G>A | - | IntronicSNV | - | 6/11 |
5-112386217-A-G | MCC | c.2449-1221T>C | - | IntronicSNV | - | 15/18 |
10-127496608-A-C | UROS | c.320-552T>G | - | IntronicSNV | - | 5/9 |
7-75657850-A-G | STYXL1 | c.165+110T>C | - | IntronicSNV | - | 3/8 |
10-90966393-G-A | CH25H | c.657C>T | p.Asn219Asn | Synonymous | 1/1 | - |
1-180127748-C-T | QSOX1 | c.265+3441C>T | - | IntronicSNV | - | 1/11 |
6-42138533-C-G | GUCA1A | c.1-2819C>G | - | IntronicSNV | - | 2/5 |
16-55548322-G-A | LPCAT2 | c.171+5058G>A | - | IntronicSNV | - | 1/13 |
6-163980882-G-T | QKI | c.547-2132G>T | - | IntronicSNV | - | 4/7 |
19-55481669-T-C | NLRP2 | c.280+6T>C | - | IntronicSNV | - | 2/12 |
5-175820318-C-T | CLTB | c.465-372G>A | - | IntronicSNV | - | 4/4 |
10-131418999-A-G | MGMT | c.125+84358A>G | - | intron_variant | - | 2/4 |
14-24762882-C-A | DHRS1 | c.375-892G>T | - | IntronicSNV | - | 4/8 |
14-24762882-C-G | DHRS1 | c.375-892G>C | - | IntronicSNV | - | 4/8 |
15-78291214-T-C | TBC1D2B | c.2697-569A>G | - | IntronicSNV | - | 12/12 |
8-11718528-T-C | CTSB | c.-26+387A>G | - | intron_variant | - | 3/11 |
5-131727033-G-A | SLC22A5 | c.1267+437G>A | - | IntronicSNV | - | 7/9 |
10-127496608-A-T | UROS | c.320-552T>A | - | IntronicSNV | - | 5/9 |
10-134077594-C-T | STK32C | c.263-18135G>A | - | IntronicSNV | - | 1/11 |
11-8015651-T-C | EIF3F | c.654-322T>C | - | IntronicSNV | - | 4/7 |
9-123215034-C-T | CDK5RAP2 | c.2793+700G>A | - | IntronicSNV | - | 21/37 |
17-74009211-G-A | EVPL | c.2374-1041C>T | - | IntronicSNV | - | 18/21 |
15-52603363-G-A | MYO5A | c.*2530C>T | - | 3-UTRSNV | 41/41 | - |
6-163980882-G-C | QKI | c.547-2132G>C | - | IntronicSNV | - | 4/7 |
7-128629471-G-A | TNPO3 | c.1498+544C>T | - | IntronicSNV | - | 11/22 |
7-128629471-G-C | TNPO3 | c.1498+544C>G | - | IntronicSNV | - | 11/22 |
17-44800110-G-A | NSF | c.1762-3805G>A | - | IntronicSNV | - | 15/20 |
3-9884834-C-G | RPUSD3 | c.262+315G>C | - | IntronicSNV | - | 2/8 |
17-80904310-C-T | B3GNTL1 | c.*469G>A | - | IntronicSNV | - | 12/12 |
5-112323738-A-G | DCP2 | c.205+2055A>G | - | IntronicSNV | - | 2/10 |
17-80904310-C-A | B3GNTL1 | c.*469G>T | - | IntronicSNV | - | 12/12 |
5-451425-C-T | EXOC3 | c.365-2060C>T | - | IntronicSNV | - | 3/12 |
2-219099484-T-C | ARPC2 | c.268+364T>C | - | IntronicSNV | - | 4/9 |
7-30642106-A-G | GARS | c.570-544A>G | - | IntronicSNV | - | 4/16 |
7-128692657-C-T | TNPO3 | c.120+2048G>A | - | IntronicSNV | - | 1/22 |
14-24761690-C-T | DHRS1 | c.508-154G>A | - | IntronicSNV | - | 5/8 |
4-9954918-A-G | SLC2A9 | c.595-11249T>C | - | IntronicSNV | - | 6/12 |
16-55612277-G-A | LPCAT2 | c.1315-744G>A | - | IntronicSNV | - | 12/13 |
22-45682544-C-T | UPK3A | c.209-509C>T | - | IntronicSNV | - | 2/5 |
12-69746671-T-C | LYZ | c.381-262T>C | - | IntronicSNV | - | 3/3 |
6-163913182-C-G | QKI | c.402+13254C>G | - | IntronicSNV | - | 3/7 |
19-36236909-G-C | PSENEN | c.61+17G>C | - | IntronicSNV | - | 2/3 |
2-202010626-C-T | CFLAR | c.661+471C>T | - | IntronicSNV | - | 6/9 |
7-128605967-C-T | TNPO3 | c.2711+1367G>A | - | IntronicSNV | - | 21/22 |
17-40271970-A-G | KAT2A | c.699+78T>C | - | IntronicSNV | - | 4/17 |
1-161019040-G-C | ARHGAP30 | c.1771C>G | p.Leu591Val | Missense | 12/13 | - |
18-32651796-C-G | MAPRE2 | c.250+1510C>G | - | IntronicSNV | - | 2/6 |
13-43644493-A-G | DNAJC15 | c.234+1354A>G | - | IntronicSNV | - | 3/5 |
7-128630227-C-G | TNPO3 | c.1359-73G>C | - | IntronicSNV | - | 10/22 |
7-128630227-C-A | TNPO3 | c.1359-73G>T | - | IntronicSNV | - | 10/22 |
19-54779101-C-T | LILRB2 | c.1648-418G>A | - | IntronicSNV | - | 13/13 |
16-56403899-C-T | AMFR | c.1381-660G>A | - | IntronicSNV | - | 10/13 |
20-34367277-G-C | PHF20 | c.-33+7276G>C | - | intron_variant | - | 1/17 |
5-131818631-G-T | IRF1 | c.*1012C>A | - | 3-UTRSNV | 10/10 | - |
2-219295249-C-T | VIL1 | c.949-199C>T | - | IntronicSNV | - | 9/19 |
16-21184277-A-T | TMEM159 | c.266-1054A>T | - | IntronicSNV | - | 3/4 |
13-37679776-G-A | CSNK1A1L | c.1-383C>T | - | 5-UTRSNV | 1/1 | - |
6-163930571-G-A | QKI | c.403-25443G>A | - | IntronicSNV | - | 3/7 |
12-16414427-A-T | SLC15A5 | c.585-3623T>A | - | IntronicSNV | - | 2/8 |
6-163930571-G-T | QKI | c.403-25443G>T | - | IntronicSNV | - | 3/7 |
6-163930571-G-C | QKI | c.403-25443G>C | - | IntronicSNV | - | 3/7 |
16-1887016-T-G | FAHD1 | c.637-1001T>G | - | IntronicSNV | - | 1/2 |
10-70231701-A-C | DNA2 | c.1-80T>G | - | 5-UTRSNV | 1/21 | - |
19-14848937-C-T | ADGRE2 | c.2290-1881G>A | - | IntronicSNV | - | 18/18 |
10-127614273-T-A | FANK1 | c.13+29049T>A | - | IntronicSNV | - | 1/10 |
3-133185834-T-C | BFSP2 | c.1023+31T>C | - | IntronicSNV | - | 5/6 |
11-63991801-T-C | TRPT1 | c.368A>G | p.His123Arg | Missense | 5/7 | - |
17-260747-G-A | C17orf97 | c.304+310G>A | - | IntronicSNV | - | 1/1 |
10-100168372-G-A | PYROXD2 | c.148-618C>T | - | IntronicSNV | - | 2/15 |
5-150530679-A-G | ANXA6 | c.1-3217T>C | - | IntronicSNV | - | 1/25 |
19-49392548-C-T | TULP2 | c.636+219G>A | - | IntronicSNV | - | 7/12 |
20-34248891-T-A | RBM12 | c.-107-1955A>T | - | intron_variant | - | 1/2 |
20-34248891-T-C | RBM12 | c.-107-1955A>G | - | intron_variant | - | 1/2 |
12-122079183-C-G | ORAI1 | c.546C>G | p.Thr182Thr | Synonymous | 2/2 | - |
6-163947874-T-G | QKI | c.403-8140T>G | - | IntronicSNV | - | 3/7 |
16-56453981-T-C | AMFR | c.255+5004A>G | - | IntronicSNV | - | 1/13 |
7-128598525-C-G | TNPO3 | c.2712-1156G>C | - | IntronicSNV | - | 21/22 |
7-134758289-T-G | AGBL3 | c.1909-2860T>G | - | IntronicSNV | - | 12/16 |
2-175247700-T-C | CIR1 | c.168-1195A>G | - | IntronicSNV | - | 2/9 |
16-88769409-C-T | RNF166 | c.156-1583G>A | - | IntronicSNV | - | 1/5 |
16-55520578-C-G | MMP2 | c.682+889C>G | - | IntronicSNV | - | 5/12 |
16-55520578-C-T | MMP2 | c.682+889C>T | - | IntronicSNV | - | 5/12 |
16-55555277-G-A | LPCAT2 | c.172-4143G>A | - | IntronicSNV | - | 1/13 |
8-17914117-T-G | ASAH1 | c.*926A>C | - | 3-UTRSNV | 14/14 | - |
16-55565747-T-G | LPCAT2 | c.643-79T>G | - | IntronicSNV | - | 4/13 |
7-2864586-G-T | GNA12 | c.309+18901C>A | - | IntronicSNV | - | 1/3 |
19-19359500-C-G | NCAN | c.3638-9C>G | - | IntronicSNV | - | 13/14 |
16-55549860-G-A | LPCAT2 | c.171+6596G>A | - | IntronicSNV | - | 1/13 |
12-121175524-T-C | ACADS | c.473-116T>C | - | IntronicSNV | - | 4/9 |
8-142139187-C-T | DENND3 | c.-51+279C>T | - | intron_variant | - | 1/22 |
11-126095215-A-G | FAM118B | c.-76-3905A>G | - | intron_variant | - | 1/8 |
1-161279518-T-C | MPZ | c.67+111A>G | - | IntronicSNV | - | 1/5 |
7-150438397-C-A | GIMAP1-GIMAP5 | c.655+382C>A | - | IntronicSNV | - | 5/5 |
12-57486033-A-T | NAB2 | c.958-198A>T | - | IntronicSNV | - | 2/6 |
12-57486033-A-C | NAB2 | c.958-198A>C | - | IntronicSNV | - | 2/6 |
14-95875342-C-T | SYNE3 | c.*8821G>A | - | IntergenicSNV | 17/17 | - |
6-131378927-C-G | EPB41L2 | c.-15+5368G>C | - | intron_variant | - | 1/14 |
2-152127902-T-A | NMI | c.741+238A>T | - | IntronicSNV | - | 7/7 |
16-56402531-C-A | AMFR | c.1515+574G>T | - | IntronicSNV | - | 11/13 |
2-152127902-T-C | NMI | c.741+238A>G | - | IntronicSNV | - | 7/7 |
14-24768449-G-C | DHRS1 | c.1-137C>G | - | 5-UTRSNV | 1/9 | - |
7-134690434-T-A | AGBL3 | c.311-11369T>A | - | IntronicSNV | - | 4/16 |
7-128607384-G-A | TNPO3 | c.2661C>T | p.Ala887Ala | Synonymous | 21/23 | - |
5-1107428-C-A | SLC12A7 | c.124+4555G>T | - | IntronicSNV | - | 1/23 |
1-21177210-C-T | EIF4G3 | c.3604+541G>A | - | IntronicSNV | - | 23/31 |
5-96106899-T-A | ERAP1 | c.2818+5209A>T | - | IntronicSNV | - | 19/19 |
12-7022085-T-A | LRRC23 | c.759-970T>A | - | IntronicSNV | - | 6/6 |
6-163921922-A-G | QKI | c.402+21994A>G | - | IntronicSNV | - | 3/7 |
19-3196439-C-G | NCLN | c.615+164C>G | - | IntronicSNV | - | 4/14 |
7-150440649-G-A | GIMAP1-GIMAP5 | c.*498G>A | - | 3-UTRSNV | 6/6 | - |
10-22834967-C-T | PIP4K2A | c.793-3991G>A | - | IntronicSNV | - | 7/9 |
7-128678236-C-G | TNPO3 | c.120+16469G>C | - | IntronicSNV | - | 1/22 |
19-49400634-C-T | TULP2 | c.52G>A | p.Ala18Thr | Missense | 3/13 | - |
7-150440649-G-C | GIMAP1-GIMAP5 | c.*498G>C | - | 3-UTRSNV | 6/6 | - |
20-34285442-C-T | NFS1 | c.324+164G>A | - | IntronicSNV | - | 3/12 |
6-74228049-A-G | EEF1A1 | c.1029+28T>C | - | IntronicSNV | - | 6/7 |
1-11896602-T-C | CLCN6 | c.1980+392T>C | - | IntronicSNV | - | 18/22 |
1-205543767-C-T | MFSD4A | c.231-5112C>T | - | IntronicSNV | - | 1/9 |
13-37620397-C-T | SUPT20H | c.166-884G>A | - | IntronicSNV | - | 5/24 |
1-205543767-C-G | MFSD4A | c.231-5112C>G | - | IntronicSNV | - | 1/9 |
10-100188106-G-A | HPS1 | c.938-1085C>T | - | IntronicSNV | - | 10/19 |