Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
6-152393203-G-A | ESR1 | c.1369+10944G>A | - | IntronicSNV | - | 6/7 |
15-67445862-C-T | SMAD3 | c.207-11371C>T | - | IntronicSNV | - | 1/8 |
6-152318361-C-T | ESR1 | c.1097-14430C>T | - | IntronicSNV | - | 4/7 |
15-67364320-T-C | SMAD3 | c.206+5622T>C | - | IntronicSNV | - | 1/8 |
15-67364320-T-A | SMAD3 | c.206+5622T>A | - | IntronicSNV | - | 1/8 |
15-67371378-G-A | SMAD3 | c.206+12680G>A | - | IntronicSNV | - | 1/8 |
14-95620762-T-C | DICER1 | c.-213+3506A>G | - | intron_variant | - | 1/28 |
15-67065952-G-T | SMAD6 | c.953-7383G>T | - | IntronicSNV | - | 3/3 |
8-141553741-C-T | AGO2 | c.1839+571G>A | - | IntronicSNV | - | 14/18 |
6-152280580-C-T | ESR1 | c.1096+14937C>T | - | IntronicSNV | - | 4/7 |
6-152280580-C-G | ESR1 | c.1096+14937C>G | - | IntronicSNV | - | 4/7 |
3-32923416-T-C | TRIM71 | c.1021-4010T>C | - | IntronicSNV | - | 2/3 |
15-67439941-A-C | SMAD3 | c.207-17292A>C | - | IntronicSNV | - | 1/8 |
15-67439941-A-G | SMAD3 | c.207-17292A>G | - | IntronicSNV | - | 1/8 |
12-113729375-A-G | TPCN1 | c.1960-39A>G | - | IntronicSNV | - | 23/27 |
1-154556720-C-T | ADAR | c.*562G>A | - | 3-UTRSNV | 15/15 | - |
4-39413585-T-C | KLB | c.825+4191T>C | - | IntronicSNV | - | 1/4 |
18-46447430-C-T | SMAD7 | c.*312G>A | - | 3-UTRSNV | 4/4 | - |
8-141608033-A-T | AGO2 | c.23-12623T>A | - | IntronicSNV | - | 1/18 |
8-141608033-A-G | AGO2 | c.23-12623T>C | - | IntronicSNV | - | 1/18 |
3-32881467-T-C | TRIM71 | c.852+21043T>C | - | IntronicSNV | - | 1/3 |
12-7944013-C-T | NANOG | c.152-1533C>T | - | IntronicSNV | - | 1/3 |
14-95575414-A-T | DICER1 | c.2257-574T>A | - | IntronicSNV | - | 16/28 |
14-95575414-A-G | DICER1 | c.2257-574T>C | - | IntronicSNV | - | 16/28 |
5-31407975-C-A | DROSHA | c.3855-923G>T | - | IntronicSNV | - | 32/34 |
6-43544840-C-T | POLH | c.-5+663C>T | - | intron_variant | - | 1/10 |
1-154556425-G-A | ADAR | c.*857C>T | - | 3-UTRSNV | 15/15 | - |
12-1055895-T-C | RAD52 | c.-19+2873A>G | - | intron_variant | - | 1/11 |
X-147029303-C-A | FMR1 | c.1738-900C>A | - | IntronicSNV | - | 16/16 |
6-43500401-G-C | XPO5 | c.2444-1088C>G | - | IntronicSNV | - | 21/31 |
6-43500401-G-A | XPO5 | c.2444-1088C>T | - | IntronicSNV | - | 21/31 |
18-46464664-A-C | SMAD7 | c.742+4187T>G | - | IntronicSNV | - | 3/3 |
18-46464664-A-G | SMAD7 | c.742+4187T>C | - | IntronicSNV | - | 3/3 |
6-152325809-T-G | ESR1 | c.1097-6982T>G | - | IntronicSNV | - | 4/7 |
6-152214990-A-G | ESR1 | c.760+13084A>G | - | IntronicSNV | - | 3/7 |
8-141566164-C-T | AGO2 | c.1147-47G>A | - | IntronicSNV | - | 9/18 |
20-21328952-G-A | XRN2 | c.1774-27G>A | - | IntronicSNV | - | 18/29 |
1-112307997-A-G | DDX20 | c.1313-362A>G | - | IntronicSNV | - | 10/10 |
8-141590262-A-C | AGO2 | c.215+4956T>G | - | IntronicSNV | - | 2/18 |
1-38017905-A-G | SNIP1 | c.327+341T>C | - | IntronicSNV | - | 2/3 |
20-21302937-C-T | XRN2 | c.76-3980C>T | - | IntronicSNV | - | 1/29 |
22-20090192-A-T | DGCR8 | c.1690-3508A>T | - | IntronicSNV | - | 8/12 |
12-1033554-C-A | RAD52 | c.543+1062G>T | - | IntronicSNV | - | 7/11 |
12-130833573-G-A | PIWIL1 | c.735-211G>A | - | IntronicSNV | - | 7/19 |
20-21310315-C-T | XRN2 | c.428-804C>T | - | IntronicSNV | - | 4/29 |
6-152380421-A-G | ESR1 | c.1236-1705A>G | - | IntronicSNV | - | 5/7 |
22-20083658-G-C | DGCR8 | c.1689+1340G>C | - | IntronicSNV | - | 8/12 |
15-67381145-G-A | SMAD3 | c.206+22447G>A | - | IntronicSNV | - | 1/8 |
6-43504421-C-T | XPO5 | c.2343-2677G>A | - | IntronicSNV | - | 20/31 |
3-32863574-C-A | TRIM71 | c.852+3150C>A | - | IntronicSNV | - | 1/3 |
15-67468285-A-G | SMAD3 | c.659-5294A>G | - | IntronicSNV | - | 5/8 |
4-146452773-T-C | SMAD1 | c.401-8183T>C | - | IntronicSNV | - | 2/6 |
18-45372936-G-C | SMAD2 | c.998-765C>G | - | IntronicSNV | - | 8/10 |
4-146408664-T-G | SMAD1 | c.-177+5474T>G | - | intron_variant | - | 1/6 |
4-146408664-T-C | SMAD1 | c.-177+5474T>C | - | intron_variant | - | 1/6 |
18-45372936-G-A | SMAD2 | c.998-765C>T | - | IntronicSNV | - | 8/10 |
1-226552068-G-A | PARP1 | c.2659-297C>T | - | IntronicSNV | - | 19/22 |
1-38014329-C-G | SNIP1 | c.327+3917G>C | - | IntronicSNV | - | 2/3 |
21-46582386-C-T | ADARB1 | c.1-9186C>T | - | IntronicSNV | - | 2/11 |
6-152327860-C-T | ESR1 | c.1097-4931C>T | - | IntronicSNV | - | 4/7 |
3-32898536-T-C | TRIM71 | c.853-16774T>C | - | IntronicSNV | - | 1/3 |
19-10792856-C-T | ILF3 | c.1368C>T | p.His456His | Synonymous | 12/18 | - |
18-46472468-C-A | SMAD7 | c.667+2286G>T | - | IntronicSNV | - | 2/3 |
18-45374275-T-C | SMAD2 | c.997+571A>G | - | IntronicSNV | - | 8/10 |
16-82722614-A-G | CDH13 | c.45+61872A>G | - | IntronicSNV | - | 1/13 |
6-152368202-C-T | ESR1 | c.1236-13924C>T | - | IntronicSNV | - | 5/7 |
3-32861517-T-G | TRIM71 | c.852+1093T>G | - | IntronicSNV | - | 1/3 |
4-146469857-A-G | SMAD1 | c.997+1781A>G | - | IntronicSNV | - | 5/6 |
3-32928319-T-G | TRIM71 | c.1155+759T>G | - | IntronicSNV | - | 3/3 |
20-21361637-G-A | XRN2 | c.2585-995G>A | - | IntronicSNV | - | 27/29 |
14-95570785-C-T | DICER1 | c.3270-322G>A | - | IntronicSNV | - | 22/28 |
18-45430130-C-A | SMAD2 | c.1-7003G>T | - | IntronicSNV | - | 1/10 |
15-67056648-C-T | SMAD6 | c.953-16687C>T | - | IntronicSNV | - | 3/3 |
8-141630172-G-A | AGO2 | c.22+15412C>T | - | IntronicSNV | - | 1/18 |
1-154561362-C-T | ADAR | c.2763-213G>A | - | IntronicSNV | - | 9/14 |
22-20070285-G-A | DGCR8 | c.-278+2379G>A | - | intron_variant | - | 1/12 |
20-21300775-T-C | XRN2 | c.76-6142T>C | - | IntronicSNV | - | 1/29 |
4-146460053-C-T | SMAD1 | c.401-903C>T | - | IntronicSNV | - | 2/6 |
6-43525781-G-A | XPO5 | c.1312+457C>T | - | IntronicSNV | - | 12/31 |
6-43525781-G-C | XPO5 | c.1312+457C>G | - | IntronicSNV | - | 12/31 |
X-147019964-G-A | FMR1 | c.1188+284G>A | - | IntronicSNV | - | 12/16 |
4-146419647-T-G | SMAD1 | c.1-16119T>G | - | IntronicSNV | - | 1/6 |
1-153643345-A-C | ILF2 | c.5+49T>G | - | IntronicSNV | - | 1/13 |
15-67437863-T-C | SMAD3 | c.207-19370T>C | - | IntronicSNV | - | 1/8 |
20-21355060-T-A | XRN2 | c.2584+5832T>A | - | IntronicSNV | - | 27/29 |
20-21355060-T-G | XRN2 | c.2584+5832T>G | - | IntronicSNV | - | 27/29 |
18-45363214-A-T | SMAD2 | c.*4984T>A | - | 3-UTRSNV | 11/11 | - |
15-67396544-C-T | SMAD3 | c.206+37846C>T | - | IntronicSNV | - | 1/8 |
15-67363573-C-T | SMAD3 | c.206+4875C>T | - | IntronicSNV | - | 1/8 |
20-21300255-C-T | XRN2 | c.76-6662C>T | - | IntronicSNV | - | 1/29 |
15-67363573-C-G | SMAD3 | c.206+4875C>G | - | IntronicSNV | - | 1/8 |
18-48592020-T-C | SMAD4 | c.1139+44T>C | - | IntronicSNV | - | 9/11 |
18-48592020-T-G | SMAD4 | c.1139+44T>G | - | IntronicSNV | - | 9/11 |
6-43517526-C-T | XPO5 | c.1770+104G>A | - | IntronicSNV | - | 16/31 |
4-146421702-A-G | SMAD1 | c.1-14064A>G | - | IntronicSNV | - | 1/6 |
20-21289602-A-G | XRN2 | c.75+5491A>G | - | IntronicSNV | - | 1/29 |
5-118490402-G-A | DMXL1 | c.4702+2671G>A | - | IntronicSNV | - | 19/42 |
15-67399084-G-A | SMAD3 | c.206+40386G>A | - | IntronicSNV | - | 1/8 |
6-43534610-T-C | XPO5 | c.834+296A>G | - | IntronicSNV | - | 7/31 |
21-46632718-A-G | ADARB1 | c.1868-8033A>G | - | IntronicSNV | - | 10/11 |
6-152416799-G-A | ESR1 | c.1553+1096G>A | - | IntronicSNV | - | 7/7 |
15-67371229-T-C | SMAD3 | c.206+12531T>C | - | IntronicSNV | - | 1/8 |
7-24958843-G-A | OSBPL3 | c.1-26752C>T | - | IntronicSNV | - | 1/22 |
8-141579599-A-G | AGO2 | c.336+3312T>C | - | IntronicSNV | - | 3/18 |
20-21289602-A-T | XRN2 | c.75+5491A>T | - | IntronicSNV | - | 1/29 |
5-31446486-A-G | DROSHA | c.2882+2168T>C | - | IntronicSNV | - | 22/34 |
12-130848979-A-G | PIWIL1 | c.2195+1290A>G | - | IntronicSNV | - | 18/19 |
5-31506894-T-C | DROSHA | c.1587+1834A>G | - | IntronicSNV | - | 9/34 |
5-31506894-T-A | DROSHA | c.1587+1834A>T | - | IntronicSNV | - | 9/34 |
18-46460000-A-G | SMAD7 | c.742+8851T>C | - | IntronicSNV | - | 3/3 |
7-100478320-C-A | SRRT | c.122-586C>A | - | intron_variant | - | 2/19 |
18-45392531-C-T | SMAD2 | c.656-1027G>A | - | IntronicSNV | - | 5/10 |
5-31457586-A-G | DROSHA | c.2575-5839T>C | - | IntronicSNV | - | 19/34 |
18-45392531-C-A | SMAD2 | c.656-1027G>T | - | IntronicSNV | - | 5/10 |
18-45381457-A-G | SMAD2 | c.731-3759T>C | - | IntronicSNV | - | 6/10 |
18-45359664-T-A | SMAD2 | c.*8534A>T | - | 3-UTRSNV | 11/11 | - |
22-20087539-A-G | DGCR8 | c.1689+5221A>G | - | IntronicSNV | - | 8/12 |
4-146461614-G-A | SMAD1 | c.658+401G>A | - | IntronicSNV | - | 3/6 |
20-21316154-G-A | XRN2 | c.1233+1331G>A | - | IntronicSNV | - | 13/29 |
6-152406060-A-G | ESR1 | c.1370-9460A>G | - | IntronicSNV | - | 6/7 |
6-152406060-A-C | ESR1 | c.1370-9460A>C | - | IntronicSNV | - | 6/7 |
12-130836383-T-C | PIWIL1 | c.1044+1871T>C | - | IntronicSNV | - | 9/19 |
21-46502626-A-G | ADARB1 | c.-220+7918A>G | - | intron_variant | - | 1/11 |
1-26752129-A-T | LIN28A | c.413+151A>T | - | IntronicSNV | - | 3/3 |
6-152231016-A-G | ESR1 | c.760+29110A>G | - | IntronicSNV | - | 3/7 |
15-67020964-C-G | SMAD6 | c.952+12128C>G | - | IntronicSNV | - | 3/3 |
1-26752129-A-G | LIN28A | c.413+151A>G | - | IntronicSNV | - | 3/3 |
6-43543278-G-C | XPO5 | c.105+219C>G | - | IntronicSNV | - | 1/31 |
6-152326650-C-T | ESR1 | c.1097-6141C>T | - | IntronicSNV | - | 4/7 |
1-26744595-G-A | LIN28A | c.228+6522G>A | - | IntronicSNV | - | 2/3 |
12-7943091-G-A | NANOG | c.151+730G>A | - | IntronicSNV | - | 1/3 |
18-45360155-A-C | SMAD2 | c.*8043T>G | - | 3-UTRSNV | 11/11 | - |
20-21306137-T-C | XRN2 | c.76-780T>C | - | IntronicSNV | - | 1/29 |
4-146434963-T-C | SMAD1 | c.1-803T>C | - | IntronicSNV | - | 1/6 |
12-130855506-C-A | PIWIL1 | c.2322-215C>A | - | IntronicSNV | - | 19/19 |
5-31405751-T-C | DROSHA | c.3994+33A>G | - | IntronicSNV | - | 34/34 |
15-67400326-C-G | SMAD3 | c.206+41628C>G | - | IntronicSNV | - | 1/8 |
20-21302581-T-C | XRN2 | c.76-4336T>C | - | IntronicSNV | - | 1/29 |
15-67475488-C-G | SMAD3 | c.872-1577C>G | - | IntronicSNV | - | 6/8 |
15-67475488-C-T | SMAD3 | c.872-1577C>T | - | IntronicSNV | - | 6/8 |
6-152144417-G-A | ESR1 | c.452+14918G>A | - | IntronicSNV | - | 1/7 |
6-43536622-C-T | XPO5 | c.622-148G>A | - | IntronicSNV | - | 5/31 |
6-43511108-T-C | XPO5 | c.2342+3200A>G | - | IntronicSNV | - | 20/31 |
5-31512756-A-T | DROSHA | c.1291-1473T>A | - | IntronicSNV | - | 7/34 |
6-152361711-A-G | ESR1 | c.1236-20415A>G | - | IntronicSNV | - | 5/7 |
X-146998508-C-T | FMR1 | c.51+4760C>T | - | IntronicSNV | - | 1/16 |
5-31492952-C-T | DROSHA | c.1842+362G>A | - | IntronicSNV | - | 12/34 |
1-153642372-G-T | ILF2 | c.66-18C>A | - | IntronicSNV | - | 2/13 |
6-43501851-C-T | XPO5 | c.2343-107G>A | - | IntronicSNV | - | 20/31 |
18-45406749-T-C | SMAD2 | c.237-9814A>G | - | IntronicSNV | - | 2/10 |
12-54676109-G-T | HNRNPA1 | c.490+25G>T | - | IntronicSNV | - | 4/10 |
18-46454048-A-T | SMAD7 | c.743-5768T>A | - | IntronicSNV | - | 3/3 |
6-43541522-C-T | XPO5 | c.106-184G>A | - | IntronicSNV | - | 1/31 |
15-67476970-T-C | SMAD3 | c.872-95T>C | - | IntronicSNV | - | 6/8 |
3-32919287-C-T | TRIM71 | c.1020+3810C>T | - | IntronicSNV | - | 2/3 |
6-152314703-C-G | ESR1 | c.1097-18088C>G | - | IntronicSNV | - | 4/7 |
X-146999007-G-A | FMR1 | c.52-4444G>A | - | IntronicSNV | - | 1/16 |
6-43545678-G-C | POLH | c.-5+1501G>C | - | intron_variant | - | 1/10 |
18-45395111-G-C | SMAD2 | c.521-283C>G | - | IntronicSNV | - | 4/10 |
18-45393262-A-G | SMAD2 | c.655+1432T>C | - | IntronicSNV | - | 5/10 |
18-45373065-G-T | SMAD2 | c.998-894C>A | - | IntronicSNV | - | 8/10 |
6-43504135-C-G | XPO5 | c.2343-2391G>C | - | IntronicSNV | - | 20/31 |
12-1038742-A-G | RAD52 | c.348+243T>C | - | IntronicSNV | - | 5/11 |
15-67396688-C-T | SMAD3 | c.206+37990C>T | - | IntronicSNV | - | 1/8 |
8-141642721-A-G | AGO2 | c.22+2863T>C | - | IntronicSNV | - | 1/18 |
1-226555302-A-G | PARP1 | c.2285T>C | p.Val762Ala | Missense | 17/23 | - |
5-31531123-G-A | DROSHA | c.-173-92C>T | - | intron_variant | - | 1/34 |
3-32928789-T-C | TRIM71 | c.1155+1229T>C | - | IntronicSNV | - | 3/3 |
7-24965298-T-C | OSBPL3 | c.1-33207A>G | - | IntronicSNV | - | 1/22 |
1-26744994-G-T | LIN28A | c.229-6800G>T | - | IntronicSNV | - | 2/3 |
6-43531408-C-T | XPO5 | c.912-1325G>A | - | IntronicSNV | - | 8/31 |
1-26744994-G-A | LIN28A | c.229-6800G>A | - | IntronicSNV | - | 2/3 |
6-43504641-C-T | XPO5 | c.2343-2897G>A | - | IntronicSNV | - | 20/31 |
15-67380990-G-A | SMAD3 | c.206+22292G>A | - | IntronicSNV | - | 1/8 |
18-48581145-A-G | SMAD4 | c.455-6A>G | - | IntronicSNV | - | 4/11 |
15-67048482-A-G | SMAD6 | c.953-24853A>G | - | IntronicSNV | - | 3/3 |
15-67416942-C-T | SMAD3 | c.207-40291C>T | - | IntronicSNV | - | 1/8 |
8-141637360-G-C | AGO2 | c.22+8224C>G | - | IntronicSNV | - | 1/18 |
8-141637360-G-A | AGO2 | c.22+8224C>T | - | IntronicSNV | - | 1/18 |
6-152302654-A-C | ESR1 | c.1097-30137A>C | - | IntronicSNV | - | 4/7 |
5-31528143-A-G | DROSHA | c.20+1004T>C | - | IntronicSNV | - | 3/34 |
6-152275704-G-A | ESR1 | c.1096+10061G>A | - | IntronicSNV | - | 4/7 |
6-152275704-G-C | ESR1 | c.1096+10061G>C | - | IntronicSNV | - | 4/7 |
12-130846775-T-C | PIWIL1 | c.1971-536T>C | - | IntronicSNV | - | 16/19 |
6-152291928-A-G | ESR1 | c.1096+26285A>G | - | IntronicSNV | - | 4/7 |
X-152115142-A-C | ZNF185 | c.1406+1134A>C | - | IntronicSNV | - | 16/22 |
15-67396497-T-G | SMAD3 | c.206+37799T>G | - | IntronicSNV | - | 1/8 |
6-152358312-G-T | ESR1 | c.1236-23814G>T | - | IntronicSNV | - | 5/7 |
3-32887613-G-C | TRIM71 | c.852+27189G>C | - | IntronicSNV | - | 1/3 |
18-46463612-T-G | SMAD7 | c.742+5239A>C | - | IntronicSNV | - | 3/3 |
6-43522616-C-T | XPO5 | c.1441+957G>A | - | IntronicSNV | - | 13/31 |
1-112299871-C-T | DDX20 | c.396+509C>T | - | IntronicSNV | - | 2/10 |
6-152255990-A-G | ESR1 | c.761-9318A>G | - | IntronicSNV | - | 3/7 |
19-10774611-C-A | ILF3 | c.1-6671C>A | - | IntronicSNV | - | 1/17 |
1-154580458-C-T | ADAR | c.15+10G>A | - | IntronicSNV | - | 1/14 |
18-45446090-C-T | SMAD2 | c.-54+10642G>A | - | intron_variant | - | 1/10 |
21-46582960-T-C | ADARB1 | c.1-8612T>C | - | IntronicSNV | - | 2/11 |
7-24952978-G-T | OSBPL3 | c.1-20887C>A | - | IntronicSNV | - | 1/22 |
8-141540826-G-A | AGO2 | c.*1317C>T | - | IntergenicSNV | 19/19 | - |
3-32863077-G-T | TRIM71 | c.852+2653G>T | - | IntronicSNV | - | 1/3 |
6-152296298-T-C | ESR1 | c.1096+30655T>C | - | IntronicSNV | - | 4/7 |
20-21347653-G-A | XRN2 | c.2456+1311G>A | - | IntronicSNV | - | 26/29 |
6-152347776-T-A | ESR1 | c.1235+14847T>A | - | IntronicSNV | - | 5/7 |
21-46612499-C-T | ADARB1 | c.1685+7493C>T | - | IntronicSNV | - | 9/11 |
1-154564141-T-C | ADAR | c.2271-1256A>G | - | IntronicSNV | - | 6/14 |
6-43537560-C-T | XPO5 | c.621+679G>A | - | IntronicSNV | - | 5/31 |
1-112303861-G-C | DDX20 | c.976G>C | p.Ala326Pro | Missense | 7/11 | - |
15-67425838-G-T | SMAD3 | c.207-31395G>T | - | IntronicSNV | - | 1/8 |
15-67425838-G-A | SMAD3 | c.207-31395G>A | - | IntronicSNV | - | 1/8 |
20-21302734-C-G | XRN2 | c.76-4183C>G | - | IntronicSNV | - | 1/29 |
1-112303861-G-A | DDX20 | c.976G>A | p.Ala326Thr | Missense | 7/11 | - |
5-31517739-T-C | DROSHA | c.948-2068A>G | - | IntronicSNV | - | 5/34 |
5-31437591-G-A | DROSHA | c.2883-186C>T | - | IntronicSNV | - | 22/34 |
8-141541888-C-T | AGO2 | c.*255G>A | - | 3-UTRSNV | 19/19 | - |
4-146477667-G-A | SMAD1 | c.1255-1276G>A | - | IntronicSNV | - | 6/6 |
6-152330673-C-T | ESR1 | c.1097-2118C>T | - | IntronicSNV | - | 4/7 |
18-45423156-A-C | SMAD2 | c.1-29T>G | - | 5-UTRSNV | - | 1/10 |
18-46449195-C-T | SMAD7 | c.743-915G>A | - | IntronicSNV | - | 3/3 |
14-95600372-T-C | DICER1 | c.1-577A>G | - | IntronicSNV | - | 1/28 |
6-43516701-T-C | XPO5 | c.1861-504A>G | - | IntronicSNV | - | 17/31 |
14-95600372-T-A | DICER1 | c.1-577A>T | - | IntronicSNV | - | 1/28 |
6-43499015-T-C | XPO5 | c.2540+202A>G | - | IntronicSNV | - | 22/31 |
14-95579992-A-G | DICER1 | c.1908-431T>C | - | IntronicSNV | - | 13/28 |
8-141618230-G-A | AGO2 | c.23-22820C>T | - | IntronicSNV | - | 1/18 |
8-141601993-T-C | AGO2 | c.23-6583A>G | - | IntronicSNV | - | 1/18 |
21-46500380-G-C | ADARB1 | c.-220+5672G>C | - | intron_variant | - | 1/11 |
20-21328967-T-A | XRN2 | c.1774-12T>A | - | IntronicSNV | - | 18/29 |
6-152301645-A-G | ESR1 | c.1097-31146A>G | - | IntronicSNV | - | 4/7 |
18-45425967-C-T | SMAD2 | c.1-2840G>A | - | IntronicSNV | - | 1/10 |
22-20090038-G-T | DGCR8 | c.1690-3662G>T | - | IntronicSNV | - | 8/12 |
6-43505709-G-A | XPO5 | c.2343-3965C>T | - | IntronicSNV | - | 20/31 |
6-152369466-C-T | ESR1 | c.1236-12660C>T | - | IntronicSNV | - | 5/7 |
18-45410563-G-A | SMAD2 | c.236+12329C>T | - | IntronicSNV | - | 2/10 |
1-228584762-C-T | TRIM11 | c.759-14G>A | - | IntronicSNV | - | 4/5 |
21-46646013-A-T | ADARB1 | c.*3901A>T | - | 3-UTRSNV | 12/12 | - |
18-45420138-T-G | SMAD2 | c.236+2754A>C | - | IntronicSNV | - | 2/10 |
3-32931005-C-G | TRIM71 | c.1156-847C>G | - | IntronicSNV | - | 3/3 |
20-21352236-A-C | XRN2 | c.2584+3008A>C | - | IntronicSNV | - | 27/29 |
20-21352236-A-G | XRN2 | c.2584+3008A>G | - | IntronicSNV | - | 27/29 |
6-152197083-T-C | ESR1 | c.644-4707T>C | - | IntronicSNV | - | 2/7 |
20-21288794-T-C | XRN2 | c.75+4683T>C | - | IntronicSNV | - | 1/29 |
6-43540577-G-T | XPO5 | c.228-262C>A | - | IntronicSNV | - | 2/31 |
22-20071652-T-C | DGCR8 | c.1-1835T>C | - | IntronicSNV | - | 1/12 |
1-154561261-G-C | ADAR | c.2763-112C>G | - | IntronicSNV | - | 9/14 |
15-67372379-A-T | SMAD3 | c.206+13681A>T | - | IntronicSNV | - | 1/8 |
14-95568003-C-T | DICER1 | c.4050+1680G>A | - | IntronicSNV | - | 23/28 |
15-67484119-G-T | SMAD3 | c.*1245G>T | - | 3-UTRSNV | 9/9 | - |
19-6422306-C-A | KHSRP | c.346+45G>T | - | IntronicSNV | - | 2/19 |
22-20082881-C-A | DGCR8 | c.1689+563C>A | - | IntronicSNV | - | 8/12 |
6-152199868-A-G | ESR1 | c.644-1922A>G | - | IntronicSNV | - | 2/7 |
6-152199868-A-T | ESR1 | c.644-1922A>T | - | IntronicSNV | - | 2/7 |
6-152318328-C-G | ESR1 | c.1097-14463C>G | - | IntronicSNV | - | 4/7 |
6-43499528-T-A | XPO5 | c.2444-215A>T | - | IntronicSNV | - | 21/31 |
X-147020442-A-G | FMR1 | c.1188+762A>G | - | IntronicSNV | - | 12/16 |
5-31531619-A-G | DROSHA | c.-174+478T>C | - | intron_variant | - | 1/34 |
8-141543350-T-C | AGO2 | c.2272-636A>G | - | IntronicSNV | - | 17/18 |
6-43545678-G-A | POLH | c.-5+1501G>A | - | intron_variant | - | 1/10 |
6-152300999-G-A | ESR1 | c.1097-31792G>A | - | IntronicSNV | - | 4/7 |
X-147026039-C-G | FMR1 | c.1472-350C>G | - | IntronicSNV | - | 14/16 |
20-21291838-C-T | XRN2 | c.75+7727C>T | - | IntronicSNV | - | 1/29 |
22-20082881-C-T | DGCR8 | c.1689+563C>T | - | IntronicSNV | - | 8/12 |
5-31494971-T-C | DROSHA | c.1755+422A>G | - | IntronicSNV | - | 11/34 |
6-152143888-G-C | ESR1 | c.452+14389G>C | - | IntronicSNV | - | 1/7 |
6-43499528-T-C | XPO5 | c.2444-215A>G | - | IntronicSNV | - | 21/31 |
12-130845185-A-C | PIWIL1 | c.1666-540A>C | - | IntronicSNV | - | 14/19 |
5-31520534-T-C | DROSHA | c.947+696A>G | - | IntronicSNV | - | 5/34 |
6-43527533-G-A | XPO5 | c.1221+382C>T | - | IntronicSNV | - | 11/31 |
6-43492353-T-C | XPO5 | c.3333A>G | p.Ile1111Met | Missense | 31/32 | - |
6-43530322-G-C | XPO5 | c.912-239C>G | - | IntronicSNV | - | 8/31 |
19-6424023-C-T | KHSRP | c.249+441G>A | - | IntronicSNV | - | 1/19 |
19-6424023-C-A | KHSRP | c.249+441G>T | - | IntronicSNV | - | 1/19 |
21-46639310-G-A | ADARB1 | c.1868-1441G>A | - | IntronicSNV | - | 10/11 |
6-152364441-C-G | ESR1 | c.1236-17685C>G | - | IntronicSNV | - | 5/7 |
20-21312258-T-C | XRN2 | c.636T>C | p.Ile212Ile | Synonymous | 7/30 | - |
6-43511697-A-G | XPO5 | c.2342+2611T>C | - | IntronicSNV | - | 20/31 |
6-152152755-T-C | ESR1 | c.453-10977T>C | - | IntronicSNV | - | 1/7 |
15-67462134-G-A | SMAD3 | c.608-758G>A | - | IntronicSNV | - | 4/8 |
5-31531080-T-C | DROSHA | c.-173-49A>G | - | intron_variant | - | 1/34 |
5-31531080-T-A | DROSHA | c.-173-49A>T | - | intron_variant | - | 1/34 |
15-67477807-T-C | SMAD3 | c.1009+605T>C | - | IntronicSNV | - | 7/8 |
15-67023514-T-C | SMAD6 | c.952+14678T>C | - | IntronicSNV | - | 3/3 |
20-21301696-C-G | XRN2 | c.76-5221C>G | - | IntronicSNV | - | 1/29 |
6-152279066-C-G | ESR1 | c.1096+13423C>G | - | IntronicSNV | - | 4/7 |
5-31518803-T-C | DROSHA | c.947+2427A>G | - | IntronicSNV | - | 5/34 |
6-152279066-C-T | ESR1 | c.1096+13423C>T | - | IntronicSNV | - | 4/7 |
5-31532789-A-G | C5orf22 | c.81+209A>G | - | IntronicSNV | - | 1/8 |
8-141581705-C-T | AGO2 | c.336+1206G>A | - | IntronicSNV | - | 3/18 |
8-9599212-C-T | TNKS | c.2643+6216C>T | - | IntronicSNV | - | 17/26 |
18-48594845-A-G | SMAD4 | c.1308+1288A>G | - | IntronicSNV | - | 10/11 |
5-31525719-C-T | DROSHA | c.854+467G>A | - | IntronicSNV | - | 4/34 |
4-146465439-C-T | SMAD1 | c.775+1589C>T | - | IntronicSNV | - | 4/6 |
6-43498381-A-G | XPO5 | c.2677+45T>C | - | IntronicSNV | - | 23/31 |
6-43498381-A-C | XPO5 | c.2677+45T>G | - | IntronicSNV | - | 23/31 |
20-21361962-T-C | XRN2 | c.2585-670T>C | - | IntronicSNV | - | 27/29 |
17-62503963-C-G | CEP95 | c.19+729C>G | - | IntronicSNV | - | 1/19 |
18-45386607-T-C | SMAD2 | c.730+4823A>G | - | IntronicSNV | - | 6/10 |
15-67439608-C-T | SMAD3 | c.207-17625C>T | - | IntronicSNV | - | 1/8 |
5-31402132-A-G | DROSHA | c.3995-463T>C | - | IntronicSNV | - | 34/34 |
5-31402132-A-C | DROSHA | c.3995-463T>G | - | IntronicSNV | - | 34/34 |
21-46499033-G-C | ADARB1 | c.-220+4325G>C | - | intron_variant | - | 1/11 |
5-31525131-G-A | DROSHA | c.854+1055C>T | - | IntronicSNV | - | 4/34 |
20-21353915-C-T | XRN2 | c.2584+4687C>T | - | IntronicSNV | - | 27/29 |
8-141604677-A-G | AGO2 | c.23-9267T>C | - | IntronicSNV | - | 1/18 |
3-32883189-G-C | TRIM71 | c.852+22765G>C | - | IntronicSNV | - | 1/3 |
3-32883189-G-A | TRIM71 | c.852+22765G>A | - | IntronicSNV | - | 1/3 |
15-67378984-T-C | SMAD3 | c.206+20286T>C | - | IntronicSNV | - | 1/8 |
20-21353344-A-G | XRN2 | c.2584+4116A>G | - | IntronicSNV | - | 27/29 |
15-67439608-C-G | SMAD3 | c.207-17625C>G | - | IntronicSNV | - | 1/8 |
15-67020964-C-T | SMAD6 | c.952+12128C>T | - | IntronicSNV | - | 3/3 |
14-95605510-G-C | DICER1 | c.1-5715C>G | - | IntronicSNV | - | 1/28 |
21-46632542-G-A | ADARB1 | c.1867+7891G>A | - | IntronicSNV | - | 10/11 |
3-32881467-T-A | TRIM71 | c.852+21043T>A | - | IntronicSNV | - | 1/3 |
12-7942276-T-G | NANOG | c.66T>G | p.Ser22Ser | Synonymous | 1/4 | - |
18-46453406-A-C | SMAD7 | c.743-5126T>G | - | IntronicSNV | - | 3/3 |
12-1036165-G-A | RAD52 | c.467+146C>T | - | IntronicSNV | - | 6/11 |
12-7944639-C-T | NANOG | c.152-907C>T | - | IntronicSNV | - | 1/3 |
7-27943679-C-T | JAZF1 | c.189-8644G>A | - | IntronicSNV | - | 2/4 |
1-226595256-C-A | PARP1 | c.120+255G>T | - | IntronicSNV | - | 1/22 |
1-38010243-G-A | SNIP1 | c.328-3887C>T | - | IntronicSNV | - | 2/3 |
15-67421260-G-A | SMAD3 | c.207-35973G>A | - | IntronicSNV | - | 1/8 |
20-21334455-T-C | XRN2 | c.1937-972T>C | - | IntronicSNV | - | 20/29 |
X-147021470-G-T | FMR1 | c.1189-625G>T | - | IntronicSNV | - | 12/16 |
18-46463223-G-A | SMAD7 | c.742+5628C>T | - | IntronicSNV | - | 3/3 |
20-21341986-T-A | XRN2 | c.2255+3556T>A | - | IntronicSNV | - | 24/29 |
8-141641538-C-A | AGO2 | c.22+4046G>T | - | IntronicSNV | - | 1/18 |
18-45398212-T-C | SMAD2 | c.237-1277A>G | - | IntronicSNV | - | 2/10 |
12-7943028-A-C | NANOG | c.151+667A>C | - | IntronicSNV | - | 1/3 |
18-48608235-A-G | SMAD4 | c.*3398A>G | - | 3-UTRSNV | 12/12 | - |
8-141573358-G-A | AGO2 | c.337-625C>T | - | IntronicSNV | - | 3/18 |
15-67056796-G-C | SMAD6 | c.953-16539G>C | - | IntronicSNV | - | 3/3 |
15-67056796-G-A | SMAD6 | c.953-16539G>A | - | IntronicSNV | - | 3/3 |
1-55207703-G-T | TTC4 | c.*517G>T | - | 3-UTRSNV | 10/10 | - |
3-32889209-T-G | TRIM71 | c.853-26101T>G | - | IntronicSNV | - | 1/3 |
3-32889209-T-C | TRIM71 | c.853-26101T>C | - | IntronicSNV | - | 1/3 |
6-152349321-G-T | ESR1 | c.1235+16392G>T | - | IntronicSNV | - | 5/7 |
22-20086571-G-A | DGCR8 | c.1689+4253G>A | - | IntronicSNV | - | 8/12 |
22-20086571-G-T | DGCR8 | c.1689+4253G>T | - | IntronicSNV | - | 8/12 |
15-67484119-G-A | SMAD3 | c.*1245G>A | - | 3-UTRSNV | 9/9 | - |
18-46453406-A-T | SMAD7 | c.743-5126T>A | - | IntronicSNV | - | 3/3 |
3-32860729-G-A | TRIM71 | c.852+305G>A | - | IntronicSNV | - | 1/3 |
15-67465638-C-G | SMAD3 | c.658+2696C>G | - | IntronicSNV | - | 5/8 |
6-152349321-G-A | ESR1 | c.1235+16392G>A | - | IntronicSNV | - | 5/7 |
3-32918054-C-T | TRIM71 | c.1020+2577C>T | - | IntronicSNV | - | 2/3 |
1-226553183-A-C | PARP1 | c.2506-328T>G | - | IntronicSNV | - | 18/22 |
8-139228388-T-C | FAM135B | c.670-18476A>G | - | IntronicSNV | - | 7/19 |
8-139228388-T-A | FAM135B | c.670-18476A>T | - | IntronicSNV | - | 7/19 |
3-32901386-G-A | TRIM71 | c.853-13924G>A | - | IntronicSNV | - | 1/3 |
12-7946393-C-T | NANOG | c.414+585C>T | - | IntronicSNV | - | 2/3 |
15-67377955-T-C | SMAD3 | c.206+19257T>C | - | IntronicSNV | - | 1/8 |
19-10796074-C-T | ILF3 | c.*933C>T | - | 3-UTRSNV | 18/18 | - |
3-32924090-C-T | TRIM71 | c.1021-3336C>T | - | IntronicSNV | - | 2/3 |
5-31484475-G-A | DROSHA | c.1996+513C>T | - | IntronicSNV | - | 14/34 |
12-130844984-C-A | PIWIL1 | c.1666-741C>A | - | IntronicSNV | - | 14/19 |
6-152195705-C-G | ESR1 | c.644-6085C>G | - | IntronicSNV | - | 2/7 |
21-46503372-A-G | ADARB1 | c.-220+8664A>G | - | intron_variant | - | 1/11 |
6-152218394-T-C | ESR1 | c.760+16488T>C | - | IntronicSNV | - | 3/7 |
18-46460015-C-G | SMAD7 | c.742+8836G>C | - | IntronicSNV | - | 3/3 |
18-46460015-C-A | SMAD7 | c.742+8836G>T | - | IntronicSNV | - | 3/3 |
17-56080449-T-C | SRSF1 | c.*2318A>G | - | 3-UTRSNV | 4/4 | - |
6-43536739-C-T | XPO5 | c.622-265G>A | - | IntronicSNV | - | 5/31 |
18-48567130-A-G | SMAD4 | c.1-6287A>G | - | IntronicSNV | - | 1/11 |
X-146996532-G-A | FMR1 | c.51+2784G>A | - | IntronicSNV | - | 1/16 |
17-648033-C-T | GEMIN4 | c.*73G>A | - | 3-UTRSNV | 2/2 | - |
18-45442129-C-A | SMAD2 | c.-54+14603G>T | - | intron_variant | - | 1/10 |
1-112300314-T-C | DDX20 | c.396+952T>C | - | IntronicSNV | - | 2/10 |
6-152130551-G-C | ESR1 | c.452+1052G>C | - | IntronicSNV | - | 1/7 |
6-152130551-G-A | ESR1 | c.452+1052G>A | - | IntronicSNV | - | 1/7 |
18-45420138-T-C | SMAD2 | c.236+2754A>G | - | IntronicSNV | - | 2/10 |
6-152364642-C-G | ESR1 | c.1236-17484C>G | - | IntronicSNV | - | 5/7 |
14-95581537-T-C | DICER1 | c.1907+467A>G | - | IntronicSNV | - | 13/28 |
21-46563219-A-G | ADARB1 | c.-48+14731A>G | - | intron_variant | - | 2/11 |
15-67401977-G-C | SMAD3 | c.206+43279G>C | - | IntronicSNV | - | 1/8 |
3-32923331-G-T | TRIM71 | c.1021-4095G>T | - | IntronicSNV | - | 2/3 |
15-67476768-C-G | SMAD3 | c.872-297C>G | - | IntronicSNV | - | 6/8 |
4-146468331-G-A | SMAD1 | c.997+255G>A | - | IntronicSNV | - | 5/6 |
18-45441352-T-G | SMAD2 | c.-54+15380A>C | - | intron_variant | - | 1/10 |
18-45406598-G-A | SMAD2 | c.237-9663C>T | - | IntronicSNV | - | 2/10 |
6-152188156-T-C | ESR1 | c.644-13634T>C | - | IntronicSNV | - | 2/7 |
6-43504462-A-T | XPO5 | c.2343-2718T>A | - | IntronicSNV | - | 20/31 |
3-32929328-A-G | TRIM71 | c.1155+1768A>G | - | IntronicSNV | - | 3/3 |
20-21307696-G-A | XRN2 | c.315+457G>A | - | IntronicSNV | - | 3/29 |
6-43540792-C-G | XPO5 | c.227+425G>C | - | IntronicSNV | - | 2/31 |
15-67022021-C-G | SMAD6 | c.952+13185C>G | - | IntronicSNV | - | 3/3 |
15-67401977-G-A | SMAD3 | c.206+43279G>A | - | IntronicSNV | - | 1/8 |
18-45368779-C-G | SMAD2 | c.1281-458G>C | - | IntronicSNV | - | 10/10 |
18-45368779-C-T | SMAD2 | c.1281-458G>A | - | IntronicSNV | - | 10/10 |
18-46462183-A-G | SMAD7 | c.742+6668T>C | - | IntronicSNV | - | 3/3 |
15-67470208-A-G | SMAD3 | c.659-3371A>G | - | IntronicSNV | - | 5/8 |
6-43537035-A-C | XPO5 | c.622-561T>G | - | IntronicSNV | - | 5/31 |
6-152228342-C-A | ESR1 | c.760+26436C>A | - | IntronicSNV | - | 3/7 |
15-67413564-A-T | SMAD3 | c.207-43669A>T | - | IntronicSNV | - | 1/8 |
18-45434130-A-C | SMAD2 | c.1-11003T>G | - | IntronicSNV | - | 1/10 |
15-67413564-A-G | SMAD3 | c.207-43669A>G | - | IntronicSNV | - | 1/8 |
1-154561925-C-T | ADAR | c.2682G>A | p.Val894Val | Synonymous | 9/15 | - |
6-152352479-C-A | ESR1 | c.1235+19550C>A | - | IntronicSNV | - | 5/7 |
4-146405153-T-G | SMAD1 | c.-177+1963T>G | - | intron_variant | - | 1/6 |
6-152183355-C-T | ESR1 | c.644-18435C>T | - | IntronicSNV | - | 2/7 |
8-141621182-C-A | AGO2 | c.22+24402G>T | - | IntronicSNV | - | 1/18 |
18-45427500-T-G | SMAD2 | c.1-4373A>C | - | IntronicSNV | - | 1/10 |
18-45427500-T-C | SMAD2 | c.1-4373A>G | - | IntronicSNV | - | 1/10 |
3-32926106-G-T | TRIM71 | c.1021-1320G>T | - | IntronicSNV | - | 2/3 |
6-152229201-A-C | ESR1 | c.760+27295A>C | - | IntronicSNV | - | 3/7 |
3-32926106-G-A | TRIM71 | c.1021-1320G>A | - | IntronicSNV | - | 2/3 |
3-32926106-G-C | TRIM71 | c.1021-1320G>C | - | IntronicSNV | - | 2/3 |
20-21343866-T-C | XRN2 | c.2256-2193T>C | - | IntronicSNV | - | 24/29 |
14-95612585-C-T | DICER1 | c.-212-4500G>A | - | intron_variant | - | 1/28 |
14-95612585-C-G | DICER1 | c.-212-4500G>C | - | intron_variant | - | 1/28 |
15-67362994-T-C | SMAD3 | c.206+4296T>C | - | IntronicSNV | - | 1/8 |
15-67362994-T-A | SMAD3 | c.206+4296T>A | - | IntronicSNV | - | 1/8 |
1-53679329-G-A | CPT2 | c.*62G>A | - | 3-UTRSNV | 5/5 | - |
14-95554455-A-T | DICER1 | c.*2380T>A | - | 3-UTRSNV | 29/29 | - |
1-226578809-C-T | PARP1 | c.403-484G>A | - | IntronicSNV | - | 3/22 |
X-147009320-A-G | FMR1 | c.199-520A>G | - | IntronicSNV | - | 3/16 |
1-53679329-G-C | CPT2 | c.*62G>C | - | 3-UTRSNV | 5/5 | - |
17-650371-C-T | GEMIN4 | c.912G>A | p.Ser304Ser | Synonymous | 2/2 | - |
22-20070171-T-C | DGCR8 | c.-278+2265T>C | - | intron_variant | - | 1/12 |
15-67048578-A-G | SMAD6 | c.953-24757A>G | - | IntronicSNV | - | 3/3 |
15-93447631-T-C | CHD2 | c.62+3102T>C | - | IntronicSNV | - | 2/38 |
15-93447631-T-A | CHD2 | c.62+3102T>A | - | IntronicSNV | - | 2/38 |
4-146466875-C-T | SMAD1 | c.776-980C>T | - | IntronicSNV | - | 4/6 |
3-32883083-G-T | TRIM71 | c.852+22659G>T | - | IntronicSNV | - | 1/3 |
20-21353915-C-G | XRN2 | c.2584+4687C>G | - | IntronicSNV | - | 27/29 |
21-46579622-C-T | ADARB1 | c.1-11950C>T | - | IntronicSNV | - | 1/11 |
22-20079688-T-C | DGCR8 | c.1606+195T>C | - | IntronicSNV | - | 7/12 |
3-32916527-G-A | TRIM71 | c.1020+1050G>A | - | IntronicSNV | - | 2/3 |
15-67405416-A-G | SMAD3 | c.206+46718A>G | - | IntronicSNV | - | 1/8 |
3-52820981-A-T | ITIH1 | c.1754A>T | p.Glu585Val | Missense | 14/22 | - |
14-95613471-A-G | DICER1 | c.-212-5386T>C | - | intron_variant | - | 1/28 |
18-45432593-C-T | SMAD2 | c.1-9466G>A | - | IntronicSNV | - | 1/10 |
15-67048578-A-T | SMAD6 | c.953-24757A>T | - | IntronicSNV | - | 3/3 |
12-1022569-A-C | RAD52 | c.1245T>G | p.Tyr415* | Nonsense | 12/12 | - |
21-46539725-G-A | ADARB1 | c.-219-8592G>A | - | intron_variant | - | 1/11 |
1-154556663-G-A | ADAR | c.*619C>T | - | 3-UTRSNV | 15/15 | - |
22-20069172-A-G | DGCR8 | c.-278+1266A>G | - | intron_variant | - | 1/12 |
1-145584467-C-T | PIAS3 | c.1449-15C>T | - | IntronicSNV | - | 11/13 |
8-141629360-G-A | AGO2 | c.22+16224C>T | - | IntronicSNV | - | 1/18 |
3-52820981-A-G | ITIH1 | c.1754A>G | p.Glu585Gly | Missense | 14/22 | - |
6-152132214-C-T | ESR1 | c.452+2715C>T | - | IntronicSNV | - | 1/7 |
12-1036042-C-G | RAD52 | c.467+269G>C | - | IntronicSNV | - | 6/11 |
4-146437641-T-A | SMAD1 | c.400+1476T>A | - | IntronicSNV | - | 2/6 |
14-95622232-C-T | DICER1 | c.-213+2036G>A | - | intron_variant | - | 1/28 |
5-31438706-A-G | DROSHA | c.2883-1301T>C | - | IntronicSNV | - | 22/34 |
1-154572621-T-C | ADAR | c.1601+896A>G | - | IntronicSNV | - | 2/14 |
6-152304302-A-T | ESR1 | c.1097-28489A>T | - | IntronicSNV | - | 4/7 |
6-152304302-A-G | ESR1 | c.1097-28489A>G | - | IntronicSNV | - | 4/7 |
22-20083260-A-G | DGCR8 | c.1689+942A>G | - | IntronicSNV | - | 8/12 |
15-67365712-C-T | SMAD3 | c.206+7014C>T | - | IntronicSNV | - | 1/8 |
6-152378183-T-C | ESR1 | c.1236-3943T>C | - | IntronicSNV | - | 5/7 |
6-152160325-A-T | ESR1 | c.453-3407A>T | - | IntronicSNV | - | 1/7 |
15-67426538-C-T | SMAD3 | c.207-30695C>T | - | IntronicSNV | - | 1/8 |
6-43491160-G-A | XPO5 | c.*446C>T | - | 3-UTRSNV | 32/32 | - |
21-46581001-T-C | ADARB1 | c.1-10571T>C | - | IntronicSNV | - | 1/11 |
6-152421083-G-A | ESR1 | c.*982G>A | - | 3-UTRSNV | 8/8 | - |
6-152287356-T-C | ESR1 | c.1096+21713T>C | - | IntronicSNV | - | 4/7 |
18-45448872-G-T | SMAD2 | c.-54+7860C>A | - | intron_variant | - | 1/10 |
6-43529154-T-C | XPO5 | c.1012-410A>G | - | IntronicSNV | - | 9/31 |
5-31460025-A-G | DROSHA | c.2574+4318T>C | - | IntronicSNV | - | 19/34 |
5-31453023-A-G | DROSHA | c.2575-1276T>C | - | IntronicSNV | - | 19/34 |
6-43508165-G-A | XPO5 | c.2342+6143C>T | - | IntronicSNV | - | 20/31 |
6-152355289-G-T | ESR1 | c.1235+22360G>T | - | IntronicSNV | - | 5/7 |
6-152277035-T-C | ESR1 | c.1096+11392T>C | - | IntronicSNV | - | 4/7 |
6-152355289-G-A | ESR1 | c.1235+22360G>A | - | IntronicSNV | - | 5/7 |
6-152355289-G-C | ESR1 | c.1235+22360G>C | - | IntronicSNV | - | 5/7 |
1-226566401-T-G | PARP1 | c.1745+442A>C | - | IntronicSNV | - | 12/22 |
15-67070612-G-T | SMAD6 | c.953-2723G>T | - | IntronicSNV | - | 3/3 |
20-21326098-T-A | XRN2 | c.1530-955T>A | - | IntronicSNV | - | 16/29 |
20-21293029-G-T | XRN2 | c.75+8918G>T | - | IntronicSNV | - | 1/29 |
21-46510938-A-G | ADARB1 | c.-220+16230A>G | - | intron_variant | - | 1/11 |
5-31501582-G-A | DROSHA | c.1668+3080C>T | - | IntronicSNV | - | 10/34 |
15-67361926-A-T | SMAD3 | c.206+3228A>T | - | IntronicSNV | - | 1/8 |
18-45432593-C-A | SMAD2 | c.1-9466G>T | - | IntronicSNV | - | 1/10 |
6-43509274-G-T | XPO5 | c.2342+5034C>A | - | IntronicSNV | - | 20/31 |
15-67446785-G-A | SMAD3 | c.207-10448G>A | - | IntronicSNV | - | 1/8 |
1-112308953-T-C | DDX20 | c.1907T>C | p.Ile636Thr | Missense | 11/11 | - |
15-67468715-A-G | SMAD3 | c.659-4864A>G | - | IntronicSNV | - | 5/8 |
18-45375785-G-A | SMAD2 | c.785-727C>T | - | IntronicSNV | - | 7/10 |
6-43525401-T-C | XPO5 | c.1312+837A>G | - | IntronicSNV | - | 12/31 |
17-648664-G-T | GEMIN4 | c.2619C>A | p.His873Gln | Missense | 2/2 | - |
12-131358281-C-T | RAN | c.247+608C>T | - | IntronicSNV | - | 4/6 |
17-648664-G-A | GEMIN4 | c.2619C>T | p.His873His | Synonymous | 2/2 | - |
2-128181122-G-A | PROC | c.535+138G>A | - | IntronicSNV | - | 6/8 |
15-67371929-G-C | SMAD3 | c.206+13231G>C | - | IntronicSNV | - | 1/8 |
17-652063-A-G | GEMIN4 | c.11-791T>C | - | IntronicSNV | - | 1/1 |
8-141577984-G-A | AGO2 | c.336+4927C>T | - | IntronicSNV | - | 3/18 |
6-43491860-C-T | XPO5 | c.3478-117G>A | - | IntronicSNV | - | 31/31 |
18-45384675-T-C | SMAD2 | c.730+6755A>G | - | IntronicSNV | - | 6/10 |
1-226568984-A-C | PARP1 | c.1160-75T>G | - | IntronicSNV | - | 8/22 |
6-43504025-G-A | XPO5 | c.2343-2281C>T | - | IntronicSNV | - | 20/31 |
19-55899602-C-T | RPL28 | c.325-9C>T | - | IntronicSNV | - | 4/4 |
6-43505064-G-A | XPO5 | c.2343-3320C>T | - | IntronicSNV | - | 20/31 |
20-21288772-A-G | XRN2 | c.75+4661A>G | - | IntronicSNV | - | 1/29 |
20-21288772-A-T | XRN2 | c.75+4661A>T | - | IntronicSNV | - | 1/29 |
6-152198662-T-C | ESR1 | c.644-3128T>C | - | IntronicSNV | - | 2/7 |
18-46464592-A-C | SMAD7 | c.742+4259T>G | - | IntronicSNV | - | 3/3 |
14-95560081-C-T | DICER1 | c.5364+144G>A | - | IntronicSNV | - | 26/28 |
6-152383820-C-T | ESR1 | c.1369+1561C>T | - | IntronicSNV | - | 6/7 |
14-95560081-C-A | DICER1 | c.5364+144G>T | - | IntronicSNV | - | 26/28 |
21-46583156-T-C | ADARB1 | c.1-8416T>C | - | IntronicSNV | - | 2/11 |
17-62500023-A-G | DDX5 | c.442-37T>C | - | IntronicSNV | - | 4/12 |
1-38002251-G-C | SNIP1 | c.*1098C>G | - | 3-UTRSNV | 4/4 | - |
12-1044594-T-C | RAD52 | c.1-2370A>G | - | IntronicSNV | - | 1/11 |
5-31444097-C-T | DROSHA | c.2882+4557G>A | - | IntronicSNV | - | 22/34 |
15-67038131-G-T | SMAD6 | c.952+29295G>T | - | IntronicSNV | - | 3/3 |
14-95560918-T-C | DICER1 | c.5096-425A>G | - | IntronicSNV | - | 25/28 |
20-21291624-C-T | XRN2 | c.75+7513C>T | - | IntronicSNV | - | 1/29 |
18-45435202-C-A | SMAD2 | c.1-12075G>T | - | IntronicSNV | - | 1/10 |
5-31515657-G-A | DROSHA | c.962C>T | p.Ser321Leu | Missense | 6/35 | - |
19-6414908-G-C | KHSRP | c.2127+244C>G | - | IntronicSNV | - | 19/19 |
19-6414908-G-A | KHSRP | c.2127+244C>T | - | IntronicSNV | - | 19/19 |
18-45438066-A-G | SMAD2 | c.1-14939T>C | - | IntronicSNV | - | 1/10 |
18-45438066-A-C | SMAD2 | c.1-14939T>G | - | IntronicSNV | - | 1/10 |
5-31527742-A-C | DROSHA | c.21-723T>G | - | IntronicSNV | - | 3/34 |
5-31506966-C-T | DROSHA | c.1587+1762G>A | - | IntronicSNV | - | 9/34 |
21-46504244-C-T | ADARB1 | c.-220+9536C>T | - | intron_variant | - | 1/11 |
5-31494801-A-T | DROSHA | c.1755+592T>A | - | IntronicSNV | - | 11/34 |
4-146475977-T-C | SMAD1 | c.1254+785T>C | - | IntronicSNV | - | 6/6 |
1-154561389-G-A | ADAR | c.2763-240C>T | - | IntronicSNV | - | 9/14 |
6-43543192-G-A | XPO5 | c.105+305C>T | - | IntronicSNV | - | 1/31 |
1-26740395-C-T | LIN28A | c.228+2322C>T | - | IntronicSNV | - | 2/3 |
15-67421913-T-C | SMAD3 | c.207-35320T>C | - | IntronicSNV | - | 1/8 |
22-20089271-A-G | DGCR8 | c.1690-4429A>G | - | IntronicSNV | - | 8/12 |
1-154559598-T-C | ADAR | c.3020-759A>G | - | IntronicSNV | - | 11/14 |
6-43526593-A-C | XPO5 | c.1222-265T>G | - | IntronicSNV | - | 11/31 |
7-24966755-C-A | OSBPL3 | c.1-34664G>T | - | IntronicSNV | - | 1/22 |
6-43543278-G-A | XPO5 | c.105+219C>T | - | IntronicSNV | - | 1/31 |
1-154579634-C-G | ADAR | c.15+834G>C | - | IntronicSNV | - | 1/14 |
3-32867678-C-T | TRIM71 | c.852+7254C>T | - | IntronicSNV | - | 1/3 |
8-141614881-G-A | AGO2 | c.23-19471C>T | - | IntronicSNV | - | 1/18 |
1-154556266-G-A | ADAR | c.*1016C>T | - | 3-UTRSNV | 15/15 | - |
6-152149586-G-A | ESR1 | c.453-14146G>A | - | IntronicSNV | - | 1/7 |
3-32919746-C-T | TRIM71 | c.1020+4269C>T | - | IntronicSNV | - | 2/3 |
4-146423515-T-G | SMAD1 | c.1-12251T>G | - | IntronicSNV | - | 1/6 |
4-146423515-T-A | SMAD1 | c.1-12251T>A | - | IntronicSNV | - | 1/6 |
15-67069862-T-G | SMAD6 | c.953-3473T>G | - | IntronicSNV | - | 3/3 |
5-31447917-T-C | DROSHA | c.2882+737A>G | - | IntronicSNV | - | 22/34 |
8-141608635-C-G | AGO2 | c.23-13225G>C | - | IntronicSNV | - | 1/18 |
3-32913006-C-T | TRIM71 | c.853-2304C>T | - | IntronicSNV | - | 1/3 |
8-141608635-C-T | AGO2 | c.23-13225G>A | - | IntronicSNV | - | 1/18 |
18-45380593-T-C | SMAD2 | c.731-2895A>G | - | IntronicSNV | - | 6/10 |
15-67439023-C-T | SMAD3 | c.207-18210C>T | - | IntronicSNV | - | 1/8 |
16-56279479-T-C | GNAO1 | c.162-30364T>C | - | IntronicSNV | - | 2/8 |
21-46544198-T-G | ADARB1 | c.-219-4119T>G | - | intron_variant | - | 1/11 |
8-141557608-G-C | AGO2 | c.1707C>G | p.Val569Val | Synonymous | 13/19 | - |
8-141587273-C-T | AGO2 | c.216-4242G>A | - | IntronicSNV | - | 2/18 |
18-45380593-T-A | SMAD2 | c.731-2895A>T | - | IntronicSNV | - | 6/10 |
8-141551067-G-C | AGO2 | c.2034+196C>G | - | IntronicSNV | - | 15/18 |
8-141551067-G-A | AGO2 | c.2034+196C>T | - | IntronicSNV | - | 15/18 |
6-152218759-G-A | ESR1 | c.760+16853G>A | - | IntronicSNV | - | 3/7 |
18-46457463-T-C | SMAD7 | c.743-9183A>G | - | IntronicSNV | - | 3/3 |
14-95556402-C-A | DICER1 | c.*433G>T | - | 3-UTRSNV | 29/29 | - |
8-141578583-C-T | AGO2 | c.336+4328G>A | - | IntronicSNV | - | 3/18 |
7-24966446-C-A | OSBPL3 | c.1-34355G>T | - | IntronicSNV | - | 1/22 |
5-31439859-G-C | DROSHA | c.2883-2454C>G | - | IntronicSNV | - | 22/34 |
8-141578583-C-G | AGO2 | c.336+4328G>C | - | IntronicSNV | - | 3/18 |
18-45441296-C-T | SMAD2 | c.-54+15436G>A | - | intron_variant | - | 1/10 |
22-20071423-T-C | DGCR8 | c.1-2064T>C | - | IntronicSNV | - | 1/12 |
6-152318524-T-C | ESR1 | c.1097-14267T>C | - | IntronicSNV | - | 4/7 |
3-32918461-G-A | TRIM71 | c.1020+2984G>A | - | IntronicSNV | - | 2/3 |
18-45390248-A-G | SMAD2 | c.730+1182T>C | - | IntronicSNV | - | 6/10 |
6-152392561-C-G | ESR1 | c.1369+10302C>G | - | IntronicSNV | - | 6/7 |
18-45390248-A-T | SMAD2 | c.730+1182T>A | - | IntronicSNV | - | 6/10 |
20-2633466-C-T | NOP56 | c.4-22C>T | - | IntronicSNV | - | 1/11 |
21-46559961-C-G | ADARB1 | c.-48+11473C>G | - | intron_variant | - | 2/11 |
20-21344791-G-A | XRN2 | c.2256-1268G>A | - | IntronicSNV | - | 24/29 |
20-2633466-C-G | NOP56 | c.4-22C>G | - | IntronicSNV | - | 1/11 |
12-1053298-C-T | RAD52 | c.-19+5470G>A | - | intron_variant | - | 1/11 |
6-152303623-A-T | ESR1 | c.1097-29168A>T | - | IntronicSNV | - | 4/7 |
3-32889361-G-A | TRIM71 | c.853-25949G>A | - | IntronicSNV | - | 1/3 |
X-146999690-T-G | FMR1 | c.52-3761T>G | - | IntronicSNV | - | 1/16 |
18-45387999-A-G | SMAD2 | c.730+3431T>C | - | IntronicSNV | - | 6/10 |
3-32929583-T-C | TRIM71 | c.1155+2023T>C | - | IntronicSNV | - | 3/3 |
5-31510535-T-C | DROSHA | c.1432+607A>G | - | IntronicSNV | - | 8/34 |
5-31510535-T-A | DROSHA | c.1432+607A>T | - | IntronicSNV | - | 8/34 |
7-24955384-G-C | OSBPL3 | c.1-23293C>G | - | IntronicSNV | - | 1/22 |
4-146437391-T-C | SMAD1 | c.400+1226T>C | - | IntronicSNV | - | 2/6 |
6-43532858-C-T | XPO5 | c.911+539G>A | - | IntronicSNV | - | 8/31 |
6-152239229-G-A | ESR1 | c.761-26079G>A | - | IntronicSNV | - | 3/7 |
20-21331372-G-A | XRN2 | c.1936+1273G>A | - | IntronicSNV | - | 20/29 |
5-31505216-G-A | DROSHA | c.1588-474C>T | - | IntronicSNV | - | 9/34 |
1-154573139-A-C | ADAR | c.1601+378T>G | - | IntronicSNV | - | 2/14 |
6-43529124-T-C | XPO5 | c.1012-380A>G | - | IntronicSNV | - | 9/31 |
20-21327505-T-G | XRN2 | c.1665+317T>G | - | IntronicSNV | - | 17/29 |
20-21318698-T-G | XRN2 | c.1234-984T>G | - | IntronicSNV | - | 13/29 |
20-21318698-T-C | XRN2 | c.1234-984T>C | - | IntronicSNV | - | 13/29 |
20-21327505-T-A | XRN2 | c.1665+317T>A | - | IntronicSNV | - | 17/29 |
6-43541985-A-G | XPO5 | c.106-647T>C | - | IntronicSNV | - | 1/31 |
6-152383997-C-T | ESR1 | c.1369+1738C>T | - | IntronicSNV | - | 6/7 |
18-45455641-G-A | SMAD2 | c.-54+1091C>T | - | intron_variant | - | 1/10 |
12-131359760-T-G | RAN | c.436-397T>G | - | IntronicSNV | - | 5/6 |
20-21329081-A-G | XRN2 | c.1863+13A>G | - | IntronicSNV | - | 19/29 |
12-130826904-C-T | PIWIL1 | c.1-233C>T | - | IntronicSNV | 1/20 | - |
3-32891749-G-A | TRIM71 | c.853-23561G>A | - | IntronicSNV | - | 1/3 |
14-95558492-C-T | DICER1 | c.5365-790G>A | - | IntronicSNV | - | 26/28 |
6-152401031-T-A | ESR1 | c.1370-14489T>A | - | IntronicSNV | - | 6/7 |
19-6423961-G-A | KHSRP | c.249+503C>T | - | IntronicSNV | - | 1/19 |
15-67377948-G-A | SMAD3 | c.206+19250G>A | - | IntronicSNV | - | 1/8 |
21-46578182-A-G | ADARB1 | c.1-13390A>G | - | IntronicSNV | - | 2/11 |
18-45447819-G-T | SMAD2 | c.-54+8913C>A | - | intron_variant | - | 1/10 |
12-130854715-G-A | PIWIL1 | c.2322-1006G>A | - | IntronicSNV | - | 19/19 |
8-141550353-T-A | AGO2 | c.2035-800A>T | - | IntronicSNV | - | 15/18 |
8-141550353-T-C | AGO2 | c.2035-800A>G | - | IntronicSNV | - | 15/18 |
6-152325068-G-C | ESR1 | c.1097-7723G>C | - | IntronicSNV | - | 4/7 |
1-154556720-C-A | ADAR | c.*562G>T | - | 3-UTRSNV | 15/15 | - |
20-21327709-T-G | XRN2 | c.1665+521T>G | - | IntronicSNV | - | 17/29 |
14-95568229-C-G | DICER1 | c.4050+1454G>C | - | IntronicSNV | - | 23/28 |
18-45379545-A-T | SMAD2 | c.731-1847T>A | - | IntronicSNV | - | 6/10 |
5-31439859-G-A | DROSHA | c.2883-2454C>T | - | IntronicSNV | - | 22/34 |
1-26739085-A-C | LIN28A | c.228+1012A>C | - | IntronicSNV | - | 2/3 |
9-126247843-T-C | DENND1A | c.994-27667A>G | - | IntronicSNV | - | 13/20 |
6-152338161-A-G | ESR1 | c.1235+5232A>G | - | IntronicSNV | - | 5/7 |
15-67465819-C-G | SMAD3 | c.658+2877C>G | - | IntronicSNV | - | 5/8 |
18-45416323-T-C | SMAD2 | c.236+6569A>G | - | IntronicSNV | - | 2/10 |
3-32926986-G-A | TRIM71 | c.1021-440G>A | - | IntronicSNV | - | 2/3 |
3-32927960-C-T | TRIM71 | c.1155+400C>T | - | IntronicSNV | - | 3/3 |
20-21367460-G-A | XRN2 | c.2649-46G>A | - | IntronicSNV | - | 28/29 |
6-152183336-G-A | ESR1 | c.644-18454G>A | - | IntronicSNV | - | 2/7 |
6-43532720-T-C | XPO5 | c.911+677A>G | - | IntronicSNV | - | 8/31 |
5-31514769-A-T | DROSHA | c.1290+326T>A | - | IntronicSNV | - | 7/34 |
17-654230-G-C | GEMIN4 | c.10+1143C>G | - | IntronicSNV | - | 1/1 |
18-45362194-T-C | SMAD2 | c.*6004A>G | - | 3-UTRSNV | 11/11 | - |
18-45431001-A-T | SMAD2 | c.1-7874T>A | - | IntronicSNV | - | 1/10 |
14-95624276-T-A | DICER1 | c.-221A>T | - | 5_prime_UTR_variant | 1/29 | - |
5-31469748-G-A | DROSHA | c.2242-1578C>T | - | IntronicSNV | - | 16/34 |
6-152152193-G-A | ESR1 | c.453-11539G>A | - | IntronicSNV | - | 1/7 |
6-152152193-G-C | ESR1 | c.453-11539G>C | - | IntronicSNV | - | 1/7 |
3-32924802-C-T | TRIM71 | c.1021-2624C>T | - | IntronicSNV | - | 2/3 |
6-152340434-T-G | ESR1 | c.1235+7505T>G | - | IntronicSNV | - | 5/7 |
4-146477430-T-A | SMAD1 | c.1255-1513T>A | - | IntronicSNV | - | 6/6 |
6-43526885-T-C | XPO5 | c.1222-557A>G | - | IntronicSNV | - | 11/31 |
1-154575613-T-C | ADAR | c.16-511A>G | - | IntronicSNV | - | 1/14 |
6-43539320-T-C | XPO5 | c.301-589A>G | - | IntronicSNV | - | 3/31 |
15-67038129-G-A | SMAD6 | c.952+29293G>A | - | IntronicSNV | - | 3/3 |
15-67444747-C-T | SMAD3 | c.207-12486C>T | - | IntronicSNV | - | 1/8 |
16-88535407-C-G | ZFPM1 | c.40+15321C>G | - | IntronicSNV | - | 1/9 |
5-31509823-G-A | DROSHA | c.1433-941C>T | - | IntronicSNV | - | 8/34 |
4-146447789-T-C | SMAD1 | c.400+11624T>C | - | IntronicSNV | - | 2/6 |
12-113729375-A-C | TPCN1 | c.1960-39A>C | - | IntronicSNV | - | 23/27 |
15-67419644-G-T | SMAD3 | c.207-37589G>T | - | IntronicSNV | - | 1/8 |
6-152306174-A-G | ESR1 | c.1097-26617A>G | - | IntronicSNV | - | 4/7 |
18-45453855-T-C | SMAD2 | c.-54+2877A>G | - | intron_variant | - | 1/10 |
8-141558182-T-C | AGO2 | c.1589-456A>G | - | IntronicSNV | - | 12/18 |
15-67419644-G-A | SMAD3 | c.207-37589G>A | - | IntronicSNV | - | 1/8 |
8-141581705-C-A | AGO2 | c.336+1206G>T | - | IntronicSNV | - | 3/18 |
8-141568211-G-A | AGO2 | c.878+373C>T | - | IntronicSNV | - | 7/18 |
21-46567885-C-T | ADARB1 | c.-48+19397C>T | - | intron_variant | - | 2/11 |
15-67460009-G-A | SMAD3 | c.607+818G>A | - | IntronicSNV | - | 4/8 |
19-10770292-A-C | ILF3 | c.-91+5129A>C | - | intron_variant | - | 1/17 |
19-10770292-A-G | ILF3 | c.-91+5129A>G | - | intron_variant | - | 1/17 |
22-20092777-C-A | DGCR8 | c.1690-923C>A | - | IntronicSNV | - | 8/12 |
22-20092777-C-T | DGCR8 | c.1690-923C>T | - | IntronicSNV | - | 8/12 |
21-46499471-G-A | ADARB1 | c.-220+4763G>A | - | intron_variant | - | 1/11 |
15-67068137-G-A | SMAD6 | c.953-5198G>A | - | IntronicSNV | - | 3/3 |
6-152363112-A-G | ESR1 | c.1236-19014A>G | - | IntronicSNV | - | 5/7 |
18-48586184-A-G | SMAD4 | c.905-52A>G | - | IntronicSNV | - | 7/11 |
3-32881042-A-G | TRIM71 | c.852+20618A>G | - | IntronicSNV | - | 1/3 |
1-38008523-C-T | SNIP1 | c.328-2167G>A | - | IntronicSNV | - | 2/3 |
18-45417793-T-G | SMAD2 | c.236+5099A>C | - | IntronicSNV | - | 2/10 |
4-146447193-T-C | SMAD1 | c.400+11028T>C | - | IntronicSNV | - | 2/6 |
6-152362526-T-G | ESR1 | c.1236-19600T>G | - | IntronicSNV | - | 5/7 |
15-67036441-G-A | SMAD6 | c.952+27605G>A | - | IntronicSNV | - | 3/3 |
6-152366614-G-A | ESR1 | c.1236-15512G>A | - | IntronicSNV | - | 5/7 |
15-67476768-C-T | SMAD3 | c.872-297C>T | - | IntronicSNV | - | 6/8 |
1-154561925-C-A | ADAR | c.2682G>T | p.Val894Val | Synonymous | 9/15 | - |
8-141621182-C-T | AGO2 | c.22+24402G>A | - | IntronicSNV | - | 1/18 |
20-21311906-G-A | XRN2 | c.577-293G>A | - | IntronicSNV | - | 6/29 |
4-146428117-A-G | SMAD1 | c.1-7649A>G | - | IntronicSNV | - | 1/6 |
4-146428117-A-T | SMAD1 | c.1-7649A>T | - | IntronicSNV | - | 1/6 |
10-53059406-T-C | PRKG1 | c.433+146316T>C | - | IntronicSNV | - | 2/17 |
6-152225309-C-A | ESR1 | c.760+23403C>A | - | IntronicSNV | - | 3/7 |
3-32888065-G-C | TRIM71 | c.853-27245G>C | - | IntronicSNV | - | 1/3 |
5-31498069-C-T | DROSHA | c.1669-2590G>A | - | IntronicSNV | - | 10/34 |
8-141579599-A-C | AGO2 | c.336+3312T>G | - | IntronicSNV | - | 3/18 |
6-152364192-G-A | ESR1 | c.1236-17934G>A | - | IntronicSNV | - | 5/7 |
15-67483276-C-T | SMAD3 | c.*402C>T | - | 3-UTRSNV | 9/9 | - |
6-43520887-A-C | XPO5 | c.1572+223T>G | - | IntronicSNV | - | 14/31 |
15-67483276-C-G | SMAD3 | c.*402C>G | - | 3-UTRSNV | 9/9 | - |
20-21302565-C-T | XRN2 | c.76-4352C>T | - | IntronicSNV | - | 1/29 |
2-189842822-A-T | COL3A1 | c.79+3528A>T | - | IntronicSNV | - | 1/50 |
6-152258206-G-A | ESR1 | c.761-7102G>A | - | IntronicSNV | - | 3/7 |
17-652264-G-T | GEMIN4 | c.11-992C>A | - | IntronicSNV | - | 1/1 |
X-147014489-C-T | FMR1 | c.880+207C>T | - | IntronicSNV | - | 9/16 |
1-26746224-G-C | LIN28A | c.229-5570G>C | - | IntronicSNV | - | 2/3 |
17-652264-G-A | GEMIN4 | c.11-992C>T | - | IntronicSNV | - | 1/1 |
18-45383438-C-G | SMAD2 | c.731-5740G>C | - | IntronicSNV | - | 6/10 |
18-45383438-C-T | SMAD2 | c.731-5740G>A | - | IntronicSNV | - | 6/10 |
18-45383438-C-A | SMAD2 | c.731-5740G>T | - | IntronicSNV | - | 6/10 |
18-46576058-T-C | DYM | c.1861-5484A>G | - | IntronicSNV | - | 16/16 |
8-141558927-G-A | AGO2 | c.1588+286C>T | - | IntronicSNV | - | 12/18 |
6-43536756-G-A | XPO5 | c.622-282C>T | - | IntronicSNV | - | 5/31 |
4-146478543-T-C | SMAD1 | c.1255-400T>C | - | IntronicSNV | - | 6/6 |
6-152273533-G-A | ESR1 | c.1096+7890G>A | - | IntronicSNV | - | 4/7 |
18-45431162-G-A | SMAD2 | c.1-8035C>T | - | IntronicSNV | - | 1/10 |
12-130846358-T-C | PIWIL1 | c.1970+212T>C | - | IntronicSNV | - | 16/19 |
6-152303437-A-T | ESR1 | c.1097-29354A>T | - | IntronicSNV | - | 4/7 |
21-46643029-C-T | ADARB1 | c.*917C>T | - | 3-UTRSNV | 12/12 | - |
5-31509182-G-A | DROSHA | c.1433-300C>T | - | IntronicSNV | - | 8/34 |
15-67461998-C-T | SMAD3 | c.608-894C>T | - | IntronicSNV | - | 4/8 |
15-67461998-C-G | SMAD3 | c.608-894C>G | - | IntronicSNV | - | 4/8 |
6-152303437-A-G | ESR1 | c.1097-29354A>G | - | IntronicSNV | - | 4/7 |
12-130845174-A-G | PIWIL1 | c.1666-551A>G | - | IntronicSNV | - | 14/19 |
21-46571258-A-G | ADARB1 | c.1-20314A>G | - | IntronicSNV | - | 2/11 |
12-130845174-A-C | PIWIL1 | c.1666-551A>C | - | IntronicSNV | - | 14/19 |
6-43509711-T-G | XPO5 | c.2342+4597A>C | - | IntronicSNV | - | 20/31 |
6-152344670-G-A | ESR1 | c.1235+11741G>A | - | IntronicSNV | - | 5/7 |
8-141567104-C-T | AGO2 | c.1026+84G>A | - | IntronicSNV | - | 8/18 |
18-45424204-G-A | SMAD2 | c.1-1077C>T | - | IntronicSNV | - | 1/10 |
4-146414478-C-G | SMAD1 | c.-177+11288C>G | - | intron_variant | - | 1/6 |
6-43536016-C-A | XPO5 | c.648+432G>T | - | IntronicSNV | - | 6/31 |
20-21357644-C-T | XRN2 | c.2585-4988C>T | - | IntronicSNV | - | 27/29 |
6-152422524-T-A | ESR1 | c.*2423T>A | - | 3-UTRSNV | 8/8 | - |
8-141559268-C-T | AGO2 | c.1533G>A | p.Thr511Thr | Synonymous | 12/19 | - |
8-141559268-C-A | AGO2 | c.1533G>T | p.Thr511Thr | Synonymous | 12/19 | - |
6-43536142-G-A | XPO5 | c.648+306C>T | - | IntronicSNV | - | 6/31 |
19-10790162-T-C | ILF3 | c.747+294T>C | - | IntronicSNV | - | 7/17 |
22-20087750-C-T | DGCR8 | c.1689+5432C>T | - | IntronicSNV | - | 8/12 |
6-43503534-G-C | XPO5 | c.2343-1790C>G | - | IntronicSNV | - | 20/31 |
6-43503534-G-A | XPO5 | c.2343-1790C>T | - | IntronicSNV | - | 20/31 |
1-112308972-G-A | DDX20 | c.1926G>A | p.Val642Val | Synonymous | 11/11 | - |
1-112308972-G-T | DDX20 | c.1926G>T | p.Val642Val | Synonymous | 11/11 | - |
3-32920894-C-G | TRIM71 | c.1020+5417C>G | - | IntronicSNV | - | 2/3 |
18-45408300-G-A | SMAD2 | c.237-11365C>T | - | IntronicSNV | - | 2/10 |
3-32920894-C-T | TRIM71 | c.1020+5417C>T | - | IntronicSNV | - | 2/3 |
19-40875800-C-T | PLD3 | c.430-15C>T | - | IntronicSNV | - | 6/12 |
4-146451756-A-C | SMAD1 | c.401-9200A>C | - | IntronicSNV | - | 2/6 |
8-141622750-T-C | AGO2 | c.22+22834A>G | - | IntronicSNV | - | 1/18 |
6-152271066-G-C | ESR1 | c.1096+5423G>C | - | IntronicSNV | - | 4/7 |
6-41566509-G-A | FOXP4 | c.1857-18G>A | - | IntronicSNV | - | 16/16 |
19-40875800-C-G | PLD3 | c.430-15C>G | - | IntronicSNV | - | 6/12 |
21-46584503-G-A | ADARB1 | c.1-7069G>A | - | IntronicSNV | - | 1/11 |
4-146405601-G-A | SMAD1 | c.-177+2411G>A | - | intron_variant | - | 1/6 |
3-32928938-C-G | TRIM71 | c.1155+1378C>G | - | IntronicSNV | - | 3/3 |
20-21329780-T-C | XRN2 | c.1864-247T>C | - | IntronicSNV | - | 19/29 |
4-146440796-T-C | SMAD1 | c.400+4631T>C | - | IntronicSNV | - | 2/6 |
4-146440796-T-G | SMAD1 | c.400+4631T>G | - | IntronicSNV | - | 2/6 |
18-45379349-C-A | SMAD2 | c.731-1651G>T | - | IntronicSNV | - | 6/10 |
18-45396631-A-C | SMAD2 | c.326+215T>G | - | IntronicSNV | - | 3/10 |
15-29856238-G-A | FAM189A1 | c.219+6471C>T | - | IntronicSNV | - | 1/10 |
6-152160074-C-T | ESR1 | c.453-3658C>T | - | IntronicSNV | - | 1/7 |
8-141556513-G-A | AGO2 | c.1748+1054C>T | - | IntronicSNV | - | 13/18 |
4-146421307-T-C | SMAD1 | c.1-14459T>C | - | IntronicSNV | - | 1/6 |
6-152153107-A-G | ESR1 | c.453-10625A>G | - | IntronicSNV | - | 1/7 |
1-154565582-G-C | ADAR | c.2271-2697C>G | - | IntronicSNV | - | 6/14 |
6-152302812-C-T | ESR1 | c.1097-29979C>T | - | IntronicSNV | - | 4/7 |
14-95602659-C-A | DICER1 | c.1-2864G>T | - | IntronicSNV | - | 3/28 |
6-43513264-C-T | XPO5 | c.2342+1044G>A | - | IntronicSNV | - | 20/31 |
15-67359061-G-A | SMAD3 | c.206+363G>A | - | IntronicSNV | - | 1/8 |
18-45373802-A-C | SMAD2 | c.997+1044T>G | - | IntronicSNV | - | 8/10 |
3-32927152-G-C | TRIM71 | c.1021-274G>C | - | IntronicSNV | - | 2/3 |
18-45373802-A-T | SMAD2 | c.997+1044T>A | - | IntronicSNV | - | 8/10 |
22-20086737-T-C | DGCR8 | c.1689+4419T>C | - | IntronicSNV | - | 8/12 |
15-67366833-T-A | SMAD3 | c.206+8135T>A | - | IntronicSNV | - | 1/8 |
18-45421434-C-T | SMAD2 | c.236+1458G>A | - | IntronicSNV | - | 2/10 |
14-95554455-A-G | DICER1 | c.*2380T>C | - | 3-UTRSNV | 29/29 | - |
21-46599024-G-T | ADARB1 | c.964-1221G>T | - | IntronicSNV | - | 4/11 |
6-152197152-C-T | ESR1 | c.644-4638C>T | - | IntronicSNV | - | 2/7 |
20-21293884-C-T | XRN2 | c.75+9773C>T | - | IntronicSNV | - | 1/29 |
20-21365463-G-A | XRN2 | c.2649-2043G>A | - | IntronicSNV | - | 28/29 |
20-21324522-A-G | XRN2 | c.1411-206A>G | - | IntronicSNV | - | 15/29 |
8-141555862-A-C | AGO2 | c.1749-1460T>G | - | IntronicSNV | - | 13/18 |
3-32883581-G-A | TRIM71 | c.852+23157G>A | - | IntronicSNV | - | 1/3 |
7-100478320-C-G | SRRT | c.122-586C>G | - | intron_variant | - | 2/19 |
1-112305842-A-G | DDX20 | c.1312+213A>G | - | IntronicSNV | - | 10/10 |
18-45402537-T-C | SMAD2 | c.237-5602A>G | - | IntronicSNV | - | 2/10 |
20-21332449-A-T | XRN2 | c.1936+2350A>T | - | IntronicSNV | - | 20/29 |
4-172896480-A-C | GALNTL6 | c.138+160611A>C | - | IntronicSNV | - | 2/12 |
5-31514461-G-A | DROSHA | c.1290+634C>T | - | IntronicSNV | - | 7/34 |
18-45402537-T-A | SMAD2 | c.237-5602A>T | - | IntronicSNV | - | 2/10 |
6-152176058-A-G | ESR1 | c.643+12136A>G | - | IntronicSNV | - | 2/7 |
18-45431781-C-A | SMAD2 | c.1-8654G>T | - | IntronicSNV | - | 1/10 |
6-43504412-G-C | XPO5 | c.2343-2668C>G | - | IntronicSNV | - | 20/31 |
1-26753271-T-C | LIN28A | c.*322T>C | - | 3-UTRSNV | 4/4 | - |
20-21288763-T-C | XRN2 | c.75+4652T>C | - | IntronicSNV | - | 1/29 |
X-147011480-G-T | FMR1 | c.433G>T | p.Ala145Ser | Missense | 6/17 | - |
12-1029240-G-A | RAD52 | c.544-3254C>T | - | IntronicSNV | - | 7/11 |
12-1029240-G-C | RAD52 | c.544-3254C>G | - | IntronicSNV | - | 7/11 |
6-43519908-C-T | XPO5 | c.1573-718G>A | - | IntronicSNV | - | 14/31 |
18-45416098-C-T | SMAD2 | c.236+6794G>A | - | IntronicSNV | - | 2/10 |
3-32887180-A-G | TRIM71 | c.852+26756A>G | - | IntronicSNV | - | 1/3 |
18-45408300-G-C | SMAD2 | c.237-11365C>G | - | IntronicSNV | - | 2/10 |
17-66420592-A-G | WIPI1 | c.1293+1624T>C | - | IntronicSNV | - | 12/12 |
20-21353479-G-C | XRN2 | c.2584+4251G>C | - | IntronicSNV | - | 27/29 |
6-152340671-G-A | ESR1 | c.1235+7742G>A | - | IntronicSNV | - | 5/7 |
6-152362509-G-A | ESR1 | c.1236-19617G>A | - | IntronicSNV | - | 5/7 |
5-31495071-G-A | DROSHA | c.1755+322C>T | - | IntronicSNV | - | 11/34 |
7-1062599-T-C | C7orf50 | c.130-12820A>G | - | IntronicSNV | - | 2/4 |
18-45359664-T-C | SMAD2 | c.*8534A>G | - | 3-UTRSNV | 11/11 | - |
20-21288771-C-T | XRN2 | c.75+4660C>T | - | IntronicSNV | - | 1/29 |
15-67074170-C-G | SMAD6 | c.*297C>G | - | 3-UTRSNV | 4/4 | - |
15-67449891-G-C | SMAD3 | c.207-7342G>C | - | IntronicSNV | - | 1/8 |
21-46601536-C-T | ADARB1 | c.1079-964C>T | - | IntronicSNV | - | 5/11 |
4-146448024-C-T | SMAD1 | c.400+11859C>T | - | IntronicSNV | - | 2/6 |
15-67048578-A-C | SMAD6 | c.953-24757A>C | - | IntronicSNV | - | 3/3 |
18-45410742-G-A | SMAD2 | c.236+12150C>T | - | IntronicSNV | - | 2/10 |
4-146478467-C-T | SMAD1 | c.1255-476C>T | - | IntronicSNV | - | 6/6 |
4-146478467-C-G | SMAD1 | c.1255-476C>G | - | IntronicSNV | - | 6/6 |
22-20082566-C-T | DGCR8 | c.1689+248C>T | - | IntronicSNV | - | 8/12 |
21-46548245-T-G | ADARB1 | c.-219-72T>G | - | intron_variant | - | 1/11 |
8-141620611-C-T | AGO2 | c.22+24973G>A | - | IntronicSNV | - | 1/18 |
15-67067676-A-T | SMAD6 | c.953-5659A>T | - | IntronicSNV | - | 3/3 |
12-130844606-C-T | PIWIL1 | c.1666-1119C>T | - | IntronicSNV | - | 14/19 |
20-21313444-T-G | XRN2 | c.858+366T>G | - | IntronicSNV | - | 9/29 |
4-146478332-G-A | SMAD1 | c.1255-611G>A | - | IntronicSNV | - | 6/6 |
20-21363959-G-C | XRN2 | c.2648+1264G>C | - | IntronicSNV | - | 28/29 |
X-147024262-T-C | FMR1 | c.1276-389T>C | - | IntronicSNV | - | 13/16 |
18-45435076-A-G | SMAD2 | c.1-11949T>C | - | IntronicSNV | - | 1/10 |
12-1028307-T-C | RAD52 | c.544-2321A>G | - | IntronicSNV | - | 7/11 |
15-93447631-T-G | CHD2 | c.62+3102T>G | - | IntronicSNV | - | 2/38 |
18-45379164-G-A | SMAD2 | c.731-1466C>T | - | IntronicSNV | - | 6/10 |
14-95581664-G-A | DICER1 | c.1907+340C>T | - | IntronicSNV | - | 13/28 |
18-46454139-A-G | SMAD7 | c.743-5859T>C | - | IntronicSNV | - | 3/3 |
18-46454139-A-C | SMAD7 | c.743-5859T>G | - | IntronicSNV | - | 3/3 |
X-146998490-C-T | FMR1 | c.51+4742C>T | - | IntronicSNV | - | 1/16 |
8-141592657-T-C | AGO2 | c.215+2561A>G | - | IntronicSNV | - | 2/18 |
8-141592657-T-A | AGO2 | c.215+2561A>T | - | IntronicSNV | - | 2/18 |
6-43506932-T-C | XPO5 | c.2343-5188A>G | - | IntronicSNV | - | 20/31 |
20-21307754-C-T | XRN2 | c.315+515C>T | - | IntronicSNV | - | 3/29 |
15-67476735-G-A | SMAD3 | c.872-330G>A | - | IntronicSNV | - | 6/8 |
8-10682905-C-T | PINX1 | c.394+757G>A | - | IntronicSNV | - | 5/6 |
1-154568683-T-G | ADAR | c.2270+598A>C | - | IntronicSNV | - | 6/14 |
15-67476735-G-C | SMAD3 | c.872-330G>C | - | IntronicSNV | - | 6/8 |
8-141570751-C-T | AGO2 | c.519-142G>A | - | IntronicSNV | - | 4/18 |
7-24958569-C-T | OSBPL3 | c.1-26478G>A | - | IntronicSNV | - | 1/22 |
3-32924822-A-T | TRIM71 | c.1021-2604A>T | - | IntronicSNV | - | 2/3 |
18-45443785-T-C | SMAD2 | c.-54+12947A>G | - | intron_variant | - | 1/10 |
3-32924822-A-G | TRIM71 | c.1021-2604A>G | - | IntronicSNV | - | 2/3 |
12-130822822-G-A | PIWIL1 | c.-13+131G>A | - | intron_variant | - | 1/19 |
8-141578652-G-A | AGO2 | c.336+4259C>T | - | IntronicSNV | - | 3/18 |
1-226554341-C-T | PARP1 | c.2407-588G>A | - | IntronicSNV | - | 17/22 |
15-67011946-T-G | SMAD6 | c.952+3110T>G | - | IntronicSNV | - | 3/3 |
1-226595256-C-T | PARP1 | c.120+255G>A | - | IntronicSNV | - | 1/22 |
1-226595256-C-G | PARP1 | c.120+255G>C | - | IntronicSNV | - | 1/22 |
18-45360991-A-G | SMAD2 | c.*7207T>C | - | 3-UTRSNV | 11/11 | - |
8-19816371-T-C | LPL | c.1019-400T>C | - | IntronicSNV | - | 6/9 |
18-46457128-C-T | SMAD7 | c.743-8848G>A | - | IntronicSNV | - | 3/3 |
18-46453463-T-C | SMAD7 | c.743-5183A>G | - | IntronicSNV | - | 3/3 |
21-46629006-G-A | ADARB1 | c.1867+4355G>A | - | IntronicSNV | - | 10/11 |
18-46453463-T-A | SMAD7 | c.743-5183A>T | - | IntronicSNV | - | 3/3 |
6-152291287-G-T | ESR1 | c.1096+25644G>T | - | IntronicSNV | - | 4/7 |
6-152291287-G-A | ESR1 | c.1096+25644G>A | - | IntronicSNV | - | 4/7 |
18-46452174-T-C | SMAD7 | c.743-3894A>G | - | IntronicSNV | - | 3/3 |
6-43526029-G-A | XPO5 | c.1312+209C>T | - | IntronicSNV | - | 12/31 |
1-154570660-C-T | ADAR | c.1786-208G>A | - | IntronicSNV | - | 3/14 |
6-152196391-C-T | ESR1 | c.644-5399C>T | - | IntronicSNV | - | 2/7 |
6-152193799-G-A | ESR1 | c.644-7991G>A | - | IntronicSNV | - | 2/7 |
8-141572883-C-T | AGO2 | c.337-150G>A | - | IntronicSNV | - | 3/18 |
6-152134067-A-G | ESR1 | c.452+4568A>G | - | IntronicSNV | - | 1/7 |
18-45380449-T-C | SMAD2 | c.731-2751A>G | - | IntronicSNV | - | 6/10 |
6-152399776-C-T | ESR1 | c.1370-15744C>T | - | IntronicSNV | - | 6/7 |
6-152301000-T-A | ESR1 | c.1097-31791T>A | - | IntronicSNV | - | 4/7 |
10-115933905-C-T | CCDC186 | c.-193G>A | - | 5_prime_UTR_variant | 1/16 | - |
1-112307792-T-C | DDX20 | c.1313-567T>C | - | IntronicSNV | - | 10/10 |
18-48609058-G-T | SMAD4 | c.*4221G>T | - | 3-UTRSNV | 12/12 | - |
14-95607179-T-C | DICER1 | c.-146-83A>G | - | intron_variant | - | 2/28 |
18-45401247-T-C | SMAD2 | c.237-4312A>G | - | IntronicSNV | - | 2/10 |
12-104324266-G-A | HSP90B1 | c.1-28G>A | - | 5-UTRSNV | 1/18 | - |
1-226595377-C-G | PARP1 | c.120+134G>C | - | IntronicSNV | - | 1/22 |
19-6418195-T-A | KHSRP | c.880-105A>T | - | IntronicSNV | - | 9/19 |
6-152278300-C-A | ESR1 | c.1096+12657C>A | - | IntronicSNV | - | 4/7 |
21-46519041-G-A | ADARB1 | c.-220+24333G>A | - | intron_variant | - | 1/11 |
5-150901699-C-T | FAT2 | c.10507-52G>A | - | IntronicSNV | - | 17/22 |
17-650518-G-A | GEMIN4 | c.765C>T | p.Asp255Asp | Synonymous | 2/2 | - |
6-152275408-G-A | ESR1 | c.1096+9765G>A | - | IntronicSNV | - | 4/7 |
X-147012286-T-C | FMR1 | c.630+523T>C | - | IntronicSNV | - | 7/16 |
12-54678110-G-T | HNRNPA1 | c.*13G>T | - | IntronicSNV | - | 10/10 |
20-21340106-C-T | XRN2 | c.2255+1676C>T | - | IntronicSNV | - | 24/29 |
12-54678110-G-A | HNRNPA1 | c.*13G>A | - | IntronicSNV | - | 10/10 |
18-45431443-T-C | SMAD2 | c.1-8316A>G | - | IntronicSNV | - | 1/10 |
15-67371535-C-G | SMAD3 | c.206+12837C>G | - | IntronicSNV | - | 1/8 |
1-154579585-T-C | ADAR | c.15+883A>G | - | IntronicSNV | - | 1/14 |
15-67371535-C-T | SMAD3 | c.206+12837C>T | - | IntronicSNV | - | 1/8 |
1-154578391-T-C | ADAR | c.15+2077A>G | - | IntronicSNV | - | 1/14 |
3-32870834-A-G | TRIM71 | c.852+10410A>G | - | IntronicSNV | - | 1/3 |
15-67401746-G-C | SMAD3 | c.206+43048G>C | - | IntronicSNV | - | 1/8 |
5-31526371-T-C | DROSHA | c.669A>G | p.Glu223Glu | Synonymous | 4/35 | - |
20-21299662-T-C | XRN2 | c.76-7255T>C | - | IntronicSNV | - | 1/29 |
3-32870834-A-T | TRIM71 | c.852+10410A>T | - | IntronicSNV | - | 1/3 |
19-40875811-G-T | PLD3 | c.430-4G>T | - | IntronicSNV | - | 6/12 |
19-40875811-G-A | PLD3 | c.430-4G>A | - | IntronicSNV | - | 6/12 |
5-31514367-C-G | DROSHA | c.1290+728G>C | - | IntronicSNV | - | 7/34 |
1-38012153-C-T | SNIP1 | c.328-5797G>A | - | IntronicSNV | - | 2/3 |
1-38013823-C-A | SNIP1 | c.327+4423G>T | - | IntronicSNV | - | 2/3 |
20-21365412-G-C | XRN2 | c.2649-2094G>C | - | IntronicSNV | - | 28/29 |
6-152415193-A-G | ESR1 | c.1370-327A>G | - | IntronicSNV | - | 6/7 |
21-46559349-G-A | ADARB1 | c.-48+10861G>A | - | intron_variant | - | 2/11 |
1-237634431-A-G | RYR2 | c.1708+1944A>G | - | IntronicSNV | - | 17/104 |
17-56080248-C-A | SRSF1 | c.*2519G>T | - | 3-UTRSNV | 4/4 | - |
18-45391419-A-C | SMAD2 | c.730+11T>G | - | IntronicSNV | - | 6/10 |
8-141553615-C-T | AGO2 | c.1839+697G>A | - | IntronicSNV | - | 14/18 |
12-1039335-A-G | RAD52 | c.187-25T>C | - | IntronicSNV | - | 3/11 |
14-95613524-G-A | DICER1 | c.-212-5439C>T | - | intron_variant | - | 1/28 |
14-95586010-G-T | DICER1 | c.1377-1919C>A | - | IntronicSNV | - | 10/28 |
22-20071652-T-G | DGCR8 | c.1-1835T>G | - | IntronicSNV | - | 1/12 |
18-45426765-T-G | SMAD2 | c.1-3638A>C | - | IntronicSNV | - | 1/10 |
14-95601698-A-G | DICER1 | c.1-1903T>C | - | IntronicSNV | - | 1/28 |
6-43502954-G-A | XPO5 | c.2343-1210C>T | - | IntronicSNV | - | 20/31 |
5-31498214-G-C | DROSHA | c.1669-2735C>G | - | IntronicSNV | - | 10/34 |
15-67371244-C-T | SMAD3 | c.206+12546C>T | - | IntronicSNV | - | 1/8 |
18-45371509-C-T | SMAD2 | c.1280+202G>A | - | IntronicSNV | - | 10/10 |
15-67388684-A-G | SMAD3 | c.206+29986A>G | - | IntronicSNV | - | 1/8 |
20-21362976-G-A | XRN2 | c.2648+281G>A | - | IntronicSNV | - | 28/29 |
12-1028011-T-C | RAD52 | c.544-2025A>G | - | IntronicSNV | - | 7/11 |
6-43537820-C-T | XPO5 | c.621+419G>A | - | IntronicSNV | - | 5/31 |
18-45404934-C-G | SMAD2 | c.237-7999G>C | - | IntronicSNV | - | 2/10 |
3-32912647-A-G | TRIM71 | c.853-2663A>G | - | IntronicSNV | - | 1/3 |
20-21313839-C-T | XRN2 | c.859-343C>T | - | IntronicSNV | - | 9/29 |
15-67048281-C-T | SMAD6 | c.953-25054C>T | - | IntronicSNV | - | 3/3 |
6-43537820-C-G | XPO5 | c.621+419G>C | - | IntronicSNV | - | 5/31 |
6-43537820-C-A | XPO5 | c.621+419G>T | - | IntronicSNV | - | 5/31 |
15-67414425-A-G | SMAD3 | c.207-42808A>G | - | IntronicSNV | - | 1/8 |
1-154556040-T-G | ADAR | c.*1242A>C | - | 3-UTRSNV | 15/15 | - |
6-152238774-A-G | ESR1 | c.761-26534A>G | - | IntronicSNV | - | 3/7 |
15-67049597-C-T | SMAD6 | c.953-23738C>T | - | IntronicSNV | - | 3/3 |
12-1026022-G-T | RAD52 | c.544-36C>A | - | IntronicSNV | - | 7/11 |
12-1040952-G-A | RAD52 | c.85-465C>T | - | IntronicSNV | - | 2/11 |
21-46499474-G-A | ADARB1 | c.-220+4766G>A | - | intron_variant | - | 1/11 |
18-45416561-C-T | SMAD2 | c.236+6331G>A | - | IntronicSNV | - | 2/10 |
12-1056454-T-G | RAD52 | c.-19+2314A>C | - | intron_variant | - | 1/11 |
12-1056454-T-A | RAD52 | c.-19+2314A>T | - | intron_variant | - | 1/11 |
18-45387584-G-A | SMAD2 | c.730+3846C>T | - | IntronicSNV | - | 6/10 |
18-45387584-G-C | SMAD2 | c.730+3846C>G | - | IntronicSNV | - | 6/10 |
4-146404246-G-A | SMAD1 | c.-177+1056G>A | - | intron_variant | - | 1/6 |
1-226595647-C-G | PARP1 | c.1-17G>C | - | 5-UTRSNV | 1/23 | - |
15-67410060-G-A | SMAD3 | c.207-47173G>A | - | IntronicSNV | - | 1/8 |
15-67394019-G-A | SMAD3 | c.206+35321G>A | - | IntronicSNV | - | 1/8 |
18-45435132-A-G | SMAD2 | c.1-12005T>C | - | IntronicSNV | - | 1/10 |
7-100478025-G-A | SRRT | c.122-881G>A | - | intron_variant | - | 2/19 |
16-88535341-G-A | ZFPM1 | c.40+15255G>A | - | IntronicSNV | - | 1/9 |
14-95621649-G-C | DICER1 | c.-213+2619C>G | - | intron_variant | - | 1/28 |
4-146478543-T-G | SMAD1 | c.1255-400T>G | - | IntronicSNV | - | 6/6 |
12-7942126-C-T | NANOG | c.1-85C>T | - | 5-UTRSNV | 1/4 | - |
1-154577008-T-G | ADAR | c.16-1906A>C | - | IntronicSNV | - | 1/14 |
21-46499483-G-A | ADARB1 | c.-220+4775G>A | - | intron_variant | - | 1/11 |
3-32931220-T-C | TRIM71 | c.1156-632T>C | - | IntronicSNV | - | 3/3 |
1-38011786-G-C | SNIP1 | c.328-5430C>G | - | IntronicSNV | - | 2/3 |
5-31412288-G-C | DROSHA | c.3526-1294C>G | - | IntronicSNV | - | 29/34 |
21-46496949-T-C | ADARB1 | c.-220+2241T>C | - | intron_variant | - | 1/11 |
X-147019964-G-T | FMR1 | c.1188+284G>T | - | IntronicSNV | - | 12/16 |
X-147019964-G-C | FMR1 | c.1188+284G>C | - | IntronicSNV | - | 12/16 |
15-67446476-A-T | SMAD3 | c.207-10757A>T | - | IntronicSNV | - | 1/8 |
8-141617131-C-T | AGO2 | c.23-21721G>A | - | IntronicSNV | - | 1/18 |
20-21300704-C-A | XRN2 | c.76-6213C>A | - | IntronicSNV | - | 1/29 |
20-21290602-C-T | XRN2 | c.75+6491C>T | - | IntronicSNV | - | 1/29 |
21-46583829-C-T | ADARB1 | c.1-7743C>T | - | IntronicSNV | - | 2/11 |
12-1036042-C-T | RAD52 | c.467+269G>A | - | IntronicSNV | - | 6/11 |
15-67405582-G-C | SMAD3 | c.206+46884G>C | - | IntronicSNV | - | 1/8 |
15-67405582-G-T | SMAD3 | c.206+46884G>T | - | IntronicSNV | - | 1/8 |
15-67405582-G-A | SMAD3 | c.206+46884G>A | - | IntronicSNV | - | 1/8 |
18-46454048-A-G | SMAD7 | c.743-5768T>C | - | IntronicSNV | - | 3/3 |
4-146437641-T-C | SMAD1 | c.400+1476T>C | - | IntronicSNV | - | 2/6 |
14-95555962-C-T | DICER1 | c.*873G>A | - | 3-UTRSNV | 29/29 | - |
18-45377140-C-A | SMAD2 | c.784+505G>T | - | IntronicSNV | - | 7/10 |
12-1031646-C-G | RAD52 | c.543+2970G>C | - | IntronicSNV | - | 7/11 |
18-45377140-C-T | SMAD2 | c.784+505G>A | - | IntronicSNV | - | 7/10 |
6-152407919-T-C | ESR1 | c.1370-7601T>C | - | IntronicSNV | - | 6/7 |
6-152368129-C-T | ESR1 | c.1236-13997C>T | - | IntronicSNV | - | 5/7 |
20-21333189-G-A | XRN2 | c.1937-2238G>A | - | IntronicSNV | - | 20/29 |
12-1033554-C-T | RAD52 | c.543+1062G>A | - | IntronicSNV | - | 7/11 |
18-45393779-A-T | SMAD2 | c.655+915T>A | - | IntronicSNV | - | 5/10 |
8-141620611-C-G | AGO2 | c.22+24973G>C | - | IntronicSNV | - | 1/18 |
1-154578321-A-G | ADAR | c.15+2147T>C | - | IntronicSNV | - | 1/14 |
6-152335215-C-T | ESR1 | c.1235+2286C>T | - | IntronicSNV | - | 5/7 |
6-152140209-A-G | ESR1 | c.452+10710A>G | - | IntronicSNV | - | 1/7 |
15-67041805-C-G | SMAD6 | c.953-31530C>G | - | IntronicSNV | - | 3/3 |
6-152318226-A-C | ESR1 | c.1097-14565A>C | - | IntronicSNV | - | 4/7 |
8-141570942-T-C | AGO2 | c.519-333A>G | - | IntronicSNV | - | 4/18 |
6-152297649-T-C | ESR1 | c.1096+32006T>C | - | IntronicSNV | - | 4/7 |
21-46590755-A-C | ADARB1 | c.1-817A>C | - | IntronicSNV | - | 1/11 |
18-48583384-A-C | SMAD4 | c.668-1111A>C | - | IntronicSNV | - | 5/11 |
18-48583384-A-G | SMAD4 | c.668-1111A>G | - | IntronicSNV | - | 5/11 |
15-67049168-G-A | SMAD6 | c.953-24167G>A | - | IntronicSNV | - | 3/3 |
12-1022392-A-G | RAD52 | c.*165T>C | - | 3-UTRSNV | 12/12 | - |
5-31442624-A-G | DROSHA | c.2883-5219T>C | - | IntronicSNV | - | 22/34 |
15-67437209-C-T | SMAD3 | c.207-20024C>T | - | IntronicSNV | - | 1/8 |
19-6414600-G-A | KHSRP | c.2128-469C>T | - | IntronicSNV | - | 19/19 |
12-7943101-G-T | NANOG | c.151+740G>T | - | IntronicSNV | - | 1/3 |
X-146995450-T-C | FMR1 | c.51+1702T>C | - | IntronicSNV | - | 1/16 |
12-1058053-C-G | RAD52 | c.-19+715G>C | - | intron_variant | - | 1/11 |
1-154559036-G-C | ADAR | c.3020-197C>G | - | IntronicSNV | - | 11/14 |
4-146451780-C-T | SMAD1 | c.401-9176C>T | - | IntronicSNV | - | 2/6 |
12-1058053-C-T | RAD52 | c.-19+715G>A | - | intron_variant | - | 1/11 |
4-146451780-C-A | SMAD1 | c.401-9176C>A | - | IntronicSNV | - | 2/6 |
12-131358889-T-G | RAN | c.248-202T>G | - | IntronicSNV | - | 4/6 |
3-32881449-A-G | TRIM71 | c.852+21025A>G | - | IntronicSNV | - | 1/3 |
18-46451146-G-A | SMAD7 | c.743-2866C>T | - | IntronicSNV | - | 3/3 |
6-43498950-C-T | XPO5 | c.2540+267G>A | - | IntronicSNV | - | 22/31 |
6-152346318-T-G | ESR1 | c.1235+13389T>G | - | IntronicSNV | - | 5/7 |
6-43543672-C-T | XPO5 | c.1-71G>A | - | 5-UTRSNV | 1/32 | - |
18-45417793-T-A | SMAD2 | c.236+5099A>T | - | IntronicSNV | - | 2/10 |
15-67419857-A-G | SMAD3 | c.207-37376A>G | - | IntronicSNV | - | 1/8 |
20-21307696-G-C | XRN2 | c.315+457G>C | - | IntronicSNV | - | 3/29 |
6-152141383-G-A | ESR1 | c.452+11884G>A | - | IntronicSNV | - | 1/7 |
6-43535273-A-G | XPO5 | c.649-182T>C | - | IntronicSNV | - | 6/31 |
6-152141383-G-C | ESR1 | c.452+11884G>C | - | IntronicSNV | - | 1/7 |
21-46589932-T-C | ADARB1 | c.1-1640T>C | - | IntronicSNV | - | 1/11 |
3-32883083-G-C | TRIM71 | c.852+22659G>C | - | IntronicSNV | - | 1/3 |
6-43504027-C-T | XPO5 | c.2343-2283G>A | - | IntronicSNV | - | 20/31 |
1-26747429-T-C | LIN28A | c.229-4365T>C | - | IntronicSNV | - | 2/3 |
12-130841083-A-G | PIWIL1 | c.1405-380A>G | - | IntronicSNV | - | 12/19 |
18-46462653-T-C | SMAD7 | c.742+6198A>G | - | IntronicSNV | - | 3/3 |
5-31478424-C-A | DROSHA | c.2071+5237G>T | - | IntronicSNV | - | 15/34 |
6-43539638-G-A | XPO5 | c.300+605C>T | - | IntronicSNV | - | 3/31 |
19-6423039-C-T | KHSRP | c.250-592G>A | - | IntronicSNV | - | 1/19 |
21-46609629-A-G | ADARB1 | c.1685+4623A>G | - | IntronicSNV | - | 9/11 |
15-67365712-C-A | SMAD3 | c.206+7014C>A | - | IntronicSNV | - | 1/8 |
18-45379174-C-T | SMAD2 | c.731-1476G>A | - | IntronicSNV | - | 6/10 |
15-67407252-A-G | SMAD3 | c.206+48554A>G | - | IntronicSNV | - | 1/8 |
X-146999764-T-A | FMR1 | c.52-3687T>A | - | IntronicSNV | - | 1/16 |
15-67446785-G-T | SMAD3 | c.207-10448G>T | - | IntronicSNV | - | 1/8 |
18-45379174-C-G | SMAD2 | c.731-1476G>C | - | IntronicSNV | - | 6/10 |
18-45380292-C-T | SMAD2 | c.731-2594G>A | - | IntronicSNV | - | 6/10 |
18-45421618-T-C | SMAD2 | c.236+1274A>G | - | IntronicSNV | - | 2/10 |
18-45421618-T-A | SMAD2 | c.236+1274A>T | - | IntronicSNV | - | 2/10 |
14-95623178-T-A | DICER1 | c.-213+1090A>T | - | intron_variant | - | 1/28 |
18-45387666-G-T | SMAD2 | c.730+3764C>A | - | IntronicSNV | - | 6/10 |
3-32887100-A-T | TRIM71 | c.852+26676A>T | - | IntronicSNV | - | 1/3 |
4-146423686-A-C | SMAD1 | c.1-12080A>C | - | IntronicSNV | - | 1/6 |
14-95592185-A-G | DICER1 | c.903+732T>C | - | IntronicSNV | - | 9/28 |
8-141580966-T-C | AGO2 | c.336+1945A>G | - | IntronicSNV | - | 3/18 |
4-146423686-A-G | SMAD1 | c.1-12080A>G | - | IntronicSNV | - | 1/6 |
15-67476952-G-T | SMAD3 | c.872-113G>T | - | IntronicSNV | - | 6/8 |
22-20093317-A-G | DGCR8 | c.1690-383A>G | - | IntronicSNV | - | 8/12 |
17-649164-G-A | GEMIN4 | c.2119C>T | p.Arg707Cys | Missense | 2/2 | - |
6-43500948-A-C | XPO5 | c.2443+696T>G | - | IntronicSNV | - | 21/31 |
6-43500948-A-G | XPO5 | c.2443+696T>C | - | IntronicSNV | - | 21/31 |
6-43504639-T-C | XPO5 | c.2343-2895A>G | - | IntronicSNV | - | 20/31 |
20-21285091-C-T | XRN2 | c.75+980C>T | - | IntronicSNV | - | 1/29 |
18-46467239-G-A | SMAD7 | c.742+1612C>T | - | IntronicSNV | - | 3/3 |
5-31528200-A-G | DROSHA | c.20+947T>C | - | IntronicSNV | - | 3/34 |
12-1032405-A-C | RAD52 | c.543+2211T>G | - | IntronicSNV | - | 7/11 |
7-132719655-G-C | CHCHD3 | c.170-10268C>G | - | IntronicSNV | - | 2/7 |
6-152307142-T-G | ESR1 | c.1097-25649T>G | - | IntronicSNV | - | 4/7 |
15-67036062-T-C | SMAD6 | c.952+27226T>C | - | IntronicSNV | - | 3/3 |
18-45405335-G-A | SMAD2 | c.237-8400C>T | - | IntronicSNV | - | 2/10 |
18-45434663-A-C | SMAD2 | c.1-11536T>G | - | IntronicSNV | - | 1/10 |
5-31514127-C-T | DROSHA | c.1290+968G>A | - | IntronicSNV | - | 7/34 |
1-154557685-C-T | ADAR | c.3443+8G>A | - | IntronicSNV | - | 14/14 |
15-67486078-G-A | SMAD3 | c.*3204G>A | - | 3-UTRSNV | 9/9 | - |
5-31467952-A-G | DROSHA | c.2366+94T>C | - | IntronicSNV | - | 17/34 |
18-45418978-G-A | SMAD2 | c.236+3914C>T | - | IntronicSNV | - | 2/10 |
6-152422335-C-T | ESR1 | c.*2234C>T | - | 3-UTRSNV | 8/8 | - |
5-31478171-T-C | DROSHA | c.2071+5490A>G | - | IntronicSNV | - | 15/34 |
21-46562167-G-T | ADARB1 | c.-48+13679G>T | - | intron_variant | - | 2/11 |
6-43537825-G-A | XPO5 | c.621+414C>T | - | IntronicSNV | - | 5/31 |
4-146406505-G-A | SMAD1 | c.-177+3315G>A | - | intron_variant | - | 1/6 |
18-45448872-G-C | SMAD2 | c.-54+7860C>G | - | intron_variant | - | 1/10 |
18-45388421-G-T | SMAD2 | c.730+3009C>A | - | IntronicSNV | - | 6/10 |
5-31514461-G-C | DROSHA | c.1290+634C>G | - | IntronicSNV | - | 7/34 |
22-20085573-C-G | DGCR8 | c.1689+3255C>G | - | IntronicSNV | - | 8/12 |
14-95600006-G-C | DICER1 | c.1-211C>G | - | IntronicSNV | - | 3/28 |
6-152188420-A-G | ESR1 | c.644-13370A>G | - | IntronicSNV | - | 2/7 |
20-21332449-A-G | XRN2 | c.1936+2350A>G | - | IntronicSNV | - | 20/29 |
5-31518910-C-A | DROSHA | c.947+2320G>T | - | IntronicSNV | - | 5/34 |
5-31518910-C-T | DROSHA | c.947+2320G>A | - | IntronicSNV | - | 5/34 |
6-43514046-T-C | XPO5 | c.2342+262A>G | - | IntronicSNV | - | 20/31 |
3-32861556-G-T | TRIM71 | c.852+1132G>T | - | IntronicSNV | - | 1/3 |
6-152151863-T-C | ESR1 | c.453-11869T>C | - | IntronicSNV | - | 1/7 |
6-152151863-T-A | ESR1 | c.453-11869T>A | - | IntronicSNV | - | 1/7 |
6-43537877-G-A | XPO5 | c.621+362C>T | - | IntronicSNV | - | 5/31 |
18-45436594-T-C | SMAD2 | c.1-13467A>G | - | IntronicSNV | - | 1/10 |
22-20093126-T-C | DGCR8 | c.1690-574T>C | - | IntronicSNV | - | 8/12 |
1-151518284-T-G | TUFT1 | c.60+5382T>G | - | IntronicSNV | - | 1/12 |
14-95613524-G-T | DICER1 | c.-212-5439C>A | - | intron_variant | - | 1/28 |
6-152255606-A-T | ESR1 | c.761-9702A>T | - | IntronicSNV | - | 3/7 |
6-152301300-C-T | ESR1 | c.1097-31491C>T | - | IntronicSNV | - | 4/7 |
6-152274190-G-T | ESR1 | c.1096+8547G>T | - | IntronicSNV | - | 4/7 |
6-152274190-G-A | ESR1 | c.1096+8547G>A | - | IntronicSNV | - | 4/7 |
6-152411985-C-T | ESR1 | c.1370-3535C>T | - | IntronicSNV | - | 6/7 |
21-46564075-G-A | ADARB1 | c.-48+15587G>A | - | intron_variant | - | 2/11 |
20-21300667-T-G | XRN2 | c.76-6250T>G | - | IntronicSNV | - | 1/29 |
18-45417793-T-C | SMAD2 | c.236+5099A>G | - | IntronicSNV | - | 2/10 |
6-152345025-C-T | ESR1 | c.1235+12096C>T | - | IntronicSNV | - | 5/7 |
15-67047870-G-A | SMAD6 | c.953-25465G>A | - | IntronicSNV | - | 3/3 |
20-21342378-T-C | XRN2 | c.2256-3681T>C | - | IntronicSNV | - | 24/29 |
1-112300921-C-G | DDX20 | c.397-1101C>G | - | IntronicSNV | - | 2/10 |
6-43508165-G-T | XPO5 | c.2342+6143C>A | - | IntronicSNV | - | 20/31 |
21-46554335-C-T | ADARB1 | c.-48+5847C>T | - | intron_variant | - | 2/11 |
8-141545130-G-A | AGO2 | c.2271+437C>T | - | IntronicSNV | - | 17/18 |
1-38008971-T-A | SNIP1 | c.328-2615A>T | - | IntronicSNV | - | 2/3 |
15-67477271-G-C | SMAD3 | c.1009+69G>C | - | IntronicSNV | - | 7/8 |
19-6413982-C-G | KHSRP | c.*141G>C | - | 3-UTRSNV | 20/20 | - |
6-152310007-C-T | ESR1 | c.1097-22784C>T | - | IntronicSNV | - | 4/7 |
21-46566052-C-A | ADARB1 | c.-48+17564C>A | - | intron_variant | - | 2/11 |
20-21352500-G-A | XRN2 | c.2584+3272G>A | - | IntronicSNV | - | 27/29 |
20-21344418-T-G | XRN2 | c.2256-1641T>G | - | IntronicSNV | - | 24/29 |
18-45364634-T-G | SMAD2 | c.*3564A>C | - | 3-UTRSNV | 11/11 | - |
5-31528627-T-C | DROSHA | c.20+520A>G | - | IntronicSNV | - | 3/34 |
12-54672890-C-T | CBX5 | c.-43+902G>A | - | intron_variant | - | 1/4 |
15-67396779-G-A | SMAD3 | c.206+38081G>A | - | IntronicSNV | - | 1/8 |
3-32870157-A-T | TRIM71 | c.852+9733A>T | - | IntronicSNV | - | 1/3 |
1-112298829-T-C | DDX20 | c.283T>C | p.Leu95Leu | Synonymous | 1/11 | - |
8-141609002-G-A | AGO2 | c.23-13592C>T | - | IntronicSNV | - | 1/18 |
15-67025884-G-A | SMAD6 | c.952+17048G>A | - | IntronicSNV | - | 3/3 |
6-43490540-G-C | XPO5 | c.*1066C>G | - | 3-UTRSNV | 32/32 | - |
22-20093522-C-T | DGCR8 | c.1690-178C>T | - | IntronicSNV | - | 8/12 |
6-43490540-G-A | XPO5 | c.*1066C>T | - | 3-UTRSNV | 32/32 | - |
8-141548756-G-C | AGO2 | c.2169+663C>G | - | IntronicSNV | - | 16/18 |
8-141548756-G-A | AGO2 | c.2169+663C>T | - | IntronicSNV | - | 16/18 |
19-6413982-C-A | KHSRP | c.*141G>T | - | 3-UTRSNV | 20/20 | - |
3-32926160-G-C | TRIM71 | c.1021-1266G>C | - | IntronicSNV | - | 2/3 |
6-152255699-C-G | ESR1 | c.761-9609C>G | - | IntronicSNV | - | 3/7 |
3-32894094-T-C | TRIM71 | c.853-21216T>C | - | IntronicSNV | - | 1/3 |
19-6413982-C-T | KHSRP | c.*141G>A | - | 3-UTRSNV | 20/20 | - |
18-45433668-T-A | SMAD2 | c.1-10541A>T | - | IntronicSNV | - | 1/10 |
20-21308118-G-A | XRN2 | c.315+879G>A | - | IntronicSNV | - | 3/29 |
15-67070612-G-A | SMAD6 | c.953-2723G>A | - | IntronicSNV | - | 3/3 |
4-146473995-A-G | SMAD1 | c.998-941A>G | - | IntronicSNV | - | 5/6 |
15-67070612-G-C | SMAD6 | c.953-2723G>C | - | IntronicSNV | - | 3/3 |
6-43537834-G-C | XPO5 | c.621+405C>G | - | IntronicSNV | - | 5/31 |
14-95591629-C-T | DICER1 | c.904-624G>A | - | IntronicSNV | - | 9/28 |
15-67451410-A-C | SMAD3 | c.207-5823A>C | - | IntronicSNV | - | 1/8 |
3-32884554-C-G | TRIM71 | c.852+24130C>G | - | IntronicSNV | - | 1/3 |
15-67451410-A-G | SMAD3 | c.207-5823A>G | - | IntronicSNV | - | 1/8 |
5-31533952-T-A | C5orf22 | c.82-427T>A | - | IntronicSNV | - | 1/8 |
20-21294758-C-T | XRN2 | c.75+10647C>T | - | IntronicSNV | - | 1/29 |
5-31484438-G-C | DROSHA | c.1996+550C>G | - | IntronicSNV | - | 14/34 |
5-31484438-G-A | DROSHA | c.1996+550C>T | - | IntronicSNV | - | 14/34 |
12-1021515-T-G | RAD52 | c.*1042A>C | - | 3-UTRSNV | 12/12 | - |
15-67423539-G-A | SMAD3 | c.207-33694G>A | - | IntronicSNV | - | 1/8 |
5-31533952-T-C | C5orf22 | c.82-427T>C | - | IntronicSNV | - | 1/8 |
20-21323810-G-A | XRN2 | c.1411-918G>A | - | IntronicSNV | - | 15/29 |
5-31518651-G-C | DROSHA | c.947+2579C>G | - | IntronicSNV | - | 5/34 |
6-43503202-C-T | XPO5 | c.2343-1458G>A | - | IntronicSNV | - | 20/31 |
1-226570137-T-C | PARP1 | c.1159+600A>G | - | IntronicSNV | - | 8/22 |
9-119462828-C-T | TRIM32 | c.*845C>T | - | 3-UTRSNV | 2/2 | - |
18-45403483-T-C | SMAD2 | c.237-6548A>G | - | IntronicSNV | - | 2/10 |
20-21332347-C-A | XRN2 | c.1936+2248C>A | - | IntronicSNV | - | 20/29 |
18-46451220-C-T | SMAD7 | c.743-2940G>A | - | IntronicSNV | - | 3/3 |
15-67049456-C-T | SMAD6 | c.953-23879C>T | - | IntronicSNV | - | 3/3 |
6-152287083-C-T | ESR1 | c.1096+21440C>T | - | IntronicSNV | - | 4/7 |
6-152280151-G-T | ESR1 | c.1096+14508G>T | - | IntronicSNV | - | 4/7 |
1-53400625-C-T | SCP2 | c.70-6843C>T | - | IntronicSNV | - | 1/15 |
14-95585553-T-A | DICER1 | c.1377-1462A>T | - | IntronicSNV | - | 10/28 |
1-154561661-C-G | ADAR | c.2762+184G>C | - | IntronicSNV | - | 9/14 |
1-38019747-C-T | SNIP1 | c.84G>A | p.Val28Val | Synonymous | 1/4 | - |
18-45377166-T-A | SMAD2 | c.784+479A>T | - | IntronicSNV | - | 7/10 |
18-45377166-T-C | SMAD2 | c.784+479A>G | - | IntronicSNV | - | 7/10 |
8-141593465-C-A | AGO2 | c.215+1753G>T | - | IntronicSNV | - | 2/18 |
8-141593465-C-T | AGO2 | c.215+1753G>A | - | IntronicSNV | - | 2/18 |
2-103048780-C-T | IL18RAP | c.580-4892C>T | - | IntronicSNV | - | 5/11 |
12-1021931-G-A | RAD52 | c.*626C>T | - | 3-UTRSNV | 12/12 | - |
15-67035859-G-T | SMAD6 | c.952+27023G>T | - | IntronicSNV | - | 3/3 |
12-1030727-G-A | RAD52 | c.543+3889C>T | - | IntronicSNV | - | 7/11 |
5-31526779-C-G | DROSHA | c.261G>C | p.Pro87Pro | Synonymous | 4/35 | - |
5-31526779-C-T | DROSHA | c.261G>A | p.Pro87Pro | Synonymous | 4/35 | - |
15-67485156-C-T | SMAD3 | c.*2282C>T | - | 3-UTRSNV | 9/9 | - |
15-67060126-C-T | SMAD6 | c.953-13209C>T | - | IntronicSNV | - | 3/3 |
19-10776014-A-C | ILF3 | c.1-5268A>C | - | IntronicSNV | - | 1/17 |
X-147017323-G-A | FMR1 | c.881-700G>A | - | IntronicSNV | - | 9/16 |
19-6415176-C-T | KHSRP | c.2103G>A | p.Pro701Pro | Synonymous | 19/20 | - |
18-48589718-T-C | SMAD4 | c.956-2075T>C | - | IntronicSNV | - | 8/11 |
6-152276530-T-C | ESR1 | c.1096+10887T>C | - | IntronicSNV | - | 4/7 |
X-147027736-C-G | FMR1 | c.1737+600C>G | - | IntronicSNV | - | 16/16 |
21-46560008-G-A | ADARB1 | c.-48+11520G>A | - | intron_variant | - | 2/11 |
15-67035859-G-C | SMAD6 | c.952+27023G>C | - | IntronicSNV | - | 3/3 |
15-67439330-C-T | SMAD3 | c.207-17903C>T | - | IntronicSNV | - | 1/8 |
4-146438883-A-G | SMAD1 | c.400+2718A>G | - | IntronicSNV | - | 2/6 |
5-31433789-C-A | DROSHA | c.3043-2004G>T | - | IntronicSNV | - | 24/34 |
18-46453126-C-T | SMAD7 | c.743-4846G>A | - | IntronicSNV | - | 3/3 |
20-21289279-A-G | XRN2 | c.75+5168A>G | - | IntronicSNV | - | 1/29 |
18-45449706-G-C | SMAD2 | c.-54+7026C>G | - | intron_variant | - | 1/10 |
6-152137648-A-G | ESR1 | c.452+8149A>G | - | IntronicSNV | - | 1/7 |
6-152180151-A-G | ESR1 | c.643+16229A>G | - | IntronicSNV | - | 2/7 |
6-43506881-C-T | XPO5 | c.2343-5137G>A | - | IntronicSNV | - | 20/31 |
20-21285887-A-C | XRN2 | c.75+1776A>C | - | IntronicSNV | - | 1/29 |
12-54675320-C-T | HNRNPA1 | c.132+34C>T | - | IntronicSNV | - | 2/10 |
18-45417363-T-C | SMAD2 | c.236+5529A>G | - | IntronicSNV | - | 2/10 |
6-43522901-A-G | XPO5 | c.1441+672T>C | - | IntronicSNV | - | 13/31 |
18-46462841-G-A | SMAD7 | c.742+6010C>T | - | IntronicSNV | - | 3/3 |
22-20098544-G-A | DGCR8 | c.*913G>A | - | 3-UTRSNV | 13/13 | - |
8-141617612-T-C | AGO2 | c.23-22202A>G | - | IntronicSNV | - | 1/18 |
18-45382605-A-T | SMAD2 | c.731-4907T>A | - | IntronicSNV | - | 6/10 |
18-45382605-A-C | SMAD2 | c.731-4907T>G | - | IntronicSNV | - | 6/10 |
15-67074170-C-T | SMAD6 | c.*297C>T | - | 3-UTRSNV | 4/4 | - |
18-45444706-A-T | SMAD2 | c.-54+12026T>A | - | intron_variant | - | 1/10 |
5-31460601-G-A | DROSHA | c.2574+3742C>T | - | IntronicSNV | - | 19/34 |
20-21355846-A-T | XRN2 | c.2584+6618A>T | - | IntronicSNV | - | 27/29 |
3-32864431-A-T | TRIM71 | c.852+4007A>T | - | IntronicSNV | - | 1/3 |
15-67036455-C-T | SMAD6 | c.952+27619C>T | - | IntronicSNV | - | 3/3 |
8-24811322-A-G | NEFL | c.1170-13T>C | - | IntronicSNV | - | 2/4 |
8-141571975-C-T | AGO2 | c.518+577G>A | - | IntronicSNV | - | 4/18 |
3-32900245-T-G | TRIM71 | c.853-15065T>G | - | IntronicSNV | - | 1/3 |
3-32900245-T-C | TRIM71 | c.853-15065T>C | - | IntronicSNV | - | 1/3 |
12-130852944-A-G | PIWIL1 | c.2321+1141A>G | - | IntronicSNV | - | 19/19 |
17-56079077-C-T | SRSF1 | c.*3690G>A | - | 3-UTRSNV | 4/4 | - |
6-43508715-T-C | XPO5 | c.2342+5593A>G | - | IntronicSNV | - | 20/31 |
18-45450835-T-C | SMAD2 | c.-54+5897A>G | - | intron_variant | - | 1/10 |
15-67371929-G-A | SMAD3 | c.206+13231G>A | - | IntronicSNV | - | 1/8 |
12-7942456-T-G | NANOG | c.151+95T>G | - | IntronicSNV | - | 1/3 |
8-141613834-G-A | AGO2 | c.23-18424C>T | - | IntronicSNV | - | 1/18 |
18-45442676-C-A | SMAD2 | c.-54+14056G>T | - | intron_variant | - | 1/10 |
20-21333211-C-A | XRN2 | c.1937-2216C>A | - | IntronicSNV | - | 20/29 |
6-43507091-C-T | XPO5 | c.2343-5347G>A | - | IntronicSNV | - | 20/31 |
14-95585553-T-C | DICER1 | c.1377-1462A>G | - | IntronicSNV | - | 10/28 |
15-67022292-T-C | SMAD6 | c.952+13456T>C | - | IntronicSNV | - | 3/3 |
18-45401679-G-A | SMAD2 | c.237-4744C>T | - | IntronicSNV | - | 2/10 |
5-31523943-T-G | DROSHA | c.854+2243A>C | - | IntronicSNV | - | 4/34 |
5-31523943-T-A | DROSHA | c.854+2243A>T | - | IntronicSNV | - | 4/34 |
15-67447452-C-T | SMAD3 | c.207-9781C>T | - | IntronicSNV | - | 1/8 |
8-41128620-C-T | SFRP1 | c.623-5612G>A | - | IntronicSNV | - | 2/2 |
8-141641511-T-C | AGO2 | c.22+4073A>G | - | IntronicSNV | - | 1/18 |
4-146423381-G-C | SMAD1 | c.1-12385G>C | - | IntronicSNV | - | 1/6 |
7-24944420-A-G | OSBPL3 | c.1-12329T>C | - | IntronicSNV | - | 1/22 |
6-152392598-G-C | ESR1 | c.1369+10339G>C | - | IntronicSNV | - | 6/7 |
6-152186960-C-T | ESR1 | c.644-14830C>T | - | IntronicSNV | - | 2/7 |
20-21333211-C-T | XRN2 | c.1937-2216C>T | - | IntronicSNV | - | 20/29 |
3-32890490-A-G | TRIM71 | c.853-24820A>G | - | IntronicSNV | - | 1/3 |
12-1043521-T-C | RAD52 | c.1-1297A>G | - | IntronicSNV | - | 1/11 |
12-1043521-T-A | RAD52 | c.1-1297A>T | - | IntronicSNV | - | 1/11 |
X-147013704-A-G | FMR1 | c.631-240A>G | - | IntronicSNV | - | 7/16 |
20-21349612-C-A | XRN2 | c.2584+384C>A | - | IntronicSNV | - | 27/29 |
5-31510755-G-C | DROSHA | c.1432+387C>G | - | IntronicSNV | - | 8/34 |
6-152153964-T-C | ESR1 | c.453-9768T>C | - | IntronicSNV | - | 1/7 |
18-45448432-T-A | SMAD2 | c.-54+8300A>T | - | intron_variant | - | 1/10 |
5-31517449-T-A | DROSHA | c.948-1778A>T | - | IntronicSNV | - | 5/34 |
7-100479167-C-A | SRRT | c.251-113C>A | - | intron_variant | - | 3/19 |
14-95586136-T-C | DICER1 | c.1377-2045A>G | - | IntronicSNV | - | 10/28 |
21-46642827-C-T | ADARB1 | c.*715C>T | - | 3-UTRSNV | 12/12 | - |
22-20071737-T-C | DGCR8 | c.1-1750T>C | - | IntronicSNV | - | 1/12 |
6-152133617-C-A | ESR1 | c.452+4118C>A | - | IntronicSNV | - | 1/7 |
5-31484466-C-T | DROSHA | c.1996+522G>A | - | IntronicSNV | - | 14/34 |
22-20087473-T-A | DGCR8 | c.1689+5155T>A | - | IntronicSNV | - | 8/12 |
5-31509150-G-A | DROSHA | c.1433-268C>T | - | IntronicSNV | - | 8/34 |
18-46459264-C-G | SMAD7 | c.742+9587G>C | - | IntronicSNV | - | 3/3 |
18-46459264-C-T | SMAD7 | c.742+9587G>A | - | IntronicSNV | - | 3/3 |
15-67423959-T-C | SMAD3 | c.207-33274T>C | - | IntronicSNV | - | 1/8 |
3-32863574-C-T | TRIM71 | c.852+3150C>T | - | IntronicSNV | - | 1/3 |
18-6374394-A-G | L3MBTL4 | c.-91+40406T>C | - | intron_variant | - | 1/19 |
6-43491915-C-T | XPO5 | c.3478-172G>A | - | IntronicSNV | - | 31/31 |
4-146461534-C-T | SMAD1 | c.658+321C>T | - | IntronicSNV | - | 3/6 |
5-31505968-G-A | DROSHA | c.1588-1226C>T | - | IntronicSNV | - | 9/34 |
15-67384876-T-C | SMAD3 | c.206+26178T>C | - | IntronicSNV | - | 1/8 |
15-67052823-C-T | SMAD6 | c.953-20512C>T | - | IntronicSNV | - | 3/3 |
18-45430245-T-G | SMAD2 | c.1-7118A>C | - | IntronicSNV | - | 1/10 |
14-95582544-A-C | DICER1 | c.1752+246T>G | - | IntronicSNV | - | 12/28 |
18-45426603-C-A | SMAD2 | c.1-3476G>T | - | IntronicSNV | - | 1/10 |
18-45363729-C-G | SMAD2 | c.*4469G>C | - | 3-UTRSNV | 11/11 | - |
1-154555492-T-C | ADAR | c.*1790A>G | - | 3-UTRSNV | 15/15 | - |
4-146430293-T-G | SMAD1 | c.1-5473T>G | - | IntronicSNV | - | 1/6 |
6-152306889-G-A | ESR1 | c.1097-25902G>A | - | IntronicSNV | - | 4/7 |
8-141595041-A-T | AGO2 | c.215+177T>A | - | IntronicSNV | - | 2/18 |
20-21317848-A-G | XRN2 | c.1234-1834A>G | - | IntronicSNV | - | 13/29 |
2-239990549-T-C | HDAC4 | c.2736-246A>G | - | IntronicSNV | - | 22/26 |
22-20093288-C-T | DGCR8 | c.1690-412C>T | - | IntronicSNV | - | 8/12 |
8-141616659-C-G | AGO2 | c.23-21249G>C | - | IntronicSNV | - | 1/18 |
5-31505968-G-T | DROSHA | c.1588-1226C>A | - | IntronicSNV | - | 9/34 |
18-45363729-C-T | SMAD2 | c.*4469G>A | - | 3-UTRSNV | 11/11 | - |
12-54675319-G-A | HNRNPA1 | c.132+33G>A | - | IntronicSNV | - | 2/10 |
19-10774611-C-T | ILF3 | c.1-6671C>T | - | IntronicSNV | - | 1/17 |
18-45368587-G-A | SMAD2 | c.1281-266C>T | - | IntronicSNV | - | 10/10 |
1-154559842-T-C | ADAR | c.3019+759A>G | - | IntronicSNV | - | 11/14 |
6-152302247-A-T | ESR1 | c.1097-30544A>T | - | IntronicSNV | - | 4/7 |
15-67402528-C-T | SMAD3 | c.206+43830C>T | - | IntronicSNV | - | 1/8 |
6-152152988-A-G | ESR1 | c.453-10744A>G | - | IntronicSNV | - | 1/7 |
8-141594881-T-C | AGO2 | c.215+337A>G | - | IntronicSNV | - | 2/18 |
21-46575742-C-T | ADARB1 | c.1-15830C>T | - | IntronicSNV | - | 2/11 |
7-27941269-A-G | JAZF1 | c.189-6234T>C | - | IntronicSNV | - | 2/4 |
6-152178287-C-T | ESR1 | c.643+14365C>T | - | IntronicSNV | - | 2/7 |
14-95580386-T-A | DICER1 | c.1908-825A>T | - | IntronicSNV | - | 13/28 |
12-130834554-T-C | PIWIL1 | c.1044+42T>C | - | IntronicSNV | - | 9/19 |
6-43532853-T-G | XPO5 | c.911+544A>C | - | IntronicSNV | - | 8/31 |
5-31459948-C-G | DROSHA | c.2574+4395G>C | - | IntronicSNV | - | 19/34 |
18-45362375-T-C | SMAD2 | c.*5823A>G | - | 3-UTRSNV | 11/11 | - |
18-45369857-A-T | SMAD2 | c.1281-1536T>A | - | IntronicSNV | - | 10/10 |
18-45369857-A-G | SMAD2 | c.1281-1536T>C | - | IntronicSNV | - | 10/10 |
8-141549412-A-G | AGO2 | c.2169+7T>C | - | IntronicSNV | - | 16/18 |
6-43502826-G-A | XPO5 | c.2343-1082C>T | - | IntronicSNV | - | 20/31 |
12-130826904-C-G | PIWIL1 | c.1-233C>G | - | IntronicSNV | 1/20 | - |
12-1021931-G-T | RAD52 | c.*626C>A | - | 3-UTRSNV | 12/12 | - |
5-31449760-G-C | DROSHA | c.2683-234C>G | - | IntronicSNV | - | 20/34 |
18-45380016-G-C | SMAD2 | c.731-2318C>G | - | IntronicSNV | - | 6/10 |
3-32923331-G-A | TRIM71 | c.1021-4095G>A | - | IntronicSNV | - | 2/3 |
15-67483979-G-A | SMAD3 | c.*1105G>A | - | 3-UTRSNV | 9/9 | - |
5-31493879-T-C | DROSHA | c.1756-479A>G | - | IntronicSNV | - | 11/34 |
20-21301477-C-G | XRN2 | c.76-5440C>G | - | IntronicSNV | - | 1/29 |
9-119462572-G-A | TRIM32 | c.*589G>A | - | 3-UTRSNV | 2/2 | - |
15-67417810-G-A | SMAD3 | c.207-39423G>A | - | IntronicSNV | - | 1/8 |
19-6422423-C-A | KHSRP | c.274G>T | p.Ala92Ser | Missense | 2/20 | - |
4-40504123-T-C | RBM47 | c.-155+13761A>G | - | intron_variant | - | 1/4 |
18-45443785-T-G | SMAD2 | c.-54+12947A>C | - | intron_variant | - | 1/10 |
18-45433164-T-C | SMAD2 | c.1-10037A>G | - | IntronicSNV | - | 1/10 |
15-67049456-C-G | SMAD6 | c.953-23879C>G | - | IntronicSNV | - | 3/3 |
18-48602401-C-G | SMAD4 | c.1309-607C>G | - | IntronicSNV | - | 10/11 |
20-21301477-C-T | XRN2 | c.76-5440C>T | - | IntronicSNV | - | 1/29 |
15-67035859-G-A | SMAD6 | c.952+27023G>A | - | IntronicSNV | - | 3/3 |
12-81738584-C-T | PPFIA2 | c.2233-112G>A | - | IntronicSNV | - | 17/30 |
18-46454951-T-G | SMAD7 | c.743-6671A>C | - | IntronicSNV | - | 3/3 |
6-152294287-C-G | ESR1 | c.1096+28644C>G | - | IntronicSNV | - | 4/7 |
15-67466599-A-G | SMAD3 | c.658+3657A>G | - | IntronicSNV | - | 5/8 |
3-128991036-C-T | COPG1 | c.1987-51C>T | - | IntronicSNV | - | 19/23 |
1-226548554-A-G | PARP1 | c.*607T>C | - | 3-UTRSNV | 23/23 | - |
6-152227869-T-G | ESR1 | c.760+25963T>G | - | IntronicSNV | - | 3/7 |
20-21342550-T-G | XRN2 | c.2256-3509T>G | - | IntronicSNV | - | 24/29 |
6-43538832-T-A | XPO5 | c.301-101A>T | - | IntronicSNV | - | 3/31 |
6-43538832-T-C | XPO5 | c.301-101A>G | - | IntronicSNV | - | 3/31 |
20-21367741-A-G | XRN2 | c.2787+97A>G | - | IntronicSNV | - | 29/29 |
18-45392477-G-T | SMAD2 | c.656-973C>A | - | IntronicSNV | - | 5/10 |
18-45392477-G-C | SMAD2 | c.656-973C>G | - | IntronicSNV | - | 5/10 |
15-67457840-G-A | SMAD3 | c.532+118G>A | - | IntronicSNV | - | 3/8 |
6-152262259-G-A | ESR1 | c.761-3049G>A | - | IntronicSNV | - | 3/7 |
1-38015757-A-G | SNIP1 | c.327+2489T>C | - | IntronicSNV | - | 2/3 |
20-21304688-A-G | XRN2 | c.76-2229A>G | - | IntronicSNV | - | 1/29 |
6-152332317-T-A | ESR1 | c.1097-474T>A | - | IntronicSNV | - | 4/7 |
14-95568229-C-T | DICER1 | c.4050+1454G>A | - | IntronicSNV | - | 23/28 |
6-43534654-T-G | XPO5 | c.834+252A>C | - | IntronicSNV | - | 7/31 |
6-152198825-T-A | ESR1 | c.644-2965T>A | - | IntronicSNV | - | 2/7 |
6-152301300-C-A | ESR1 | c.1097-31491C>A | - | IntronicSNV | - | 4/7 |
6-152212212-G-T | ESR1 | c.760+10306G>T | - | IntronicSNV | - | 3/7 |
6-152212212-G-A | ESR1 | c.760+10306G>A | - | IntronicSNV | - | 3/7 |
1-112303861-G-T | DDX20 | c.976G>T | p.Ala326Ser | Missense | 7/11 | - |
X-147010158-A-G | FMR1 | c.271-19A>G | - | IntronicSNV | - | 4/16 |
21-46497536-C-T | ADARB1 | c.-220+2828C>T | - | intron_variant | - | 1/11 |
12-130844185-G-T | PIWIL1 | c.1666-1540G>T | - | IntronicSNV | - | 14/19 |
X-147003856-T-G | FMR1 | c.104+353T>G | - | IntronicSNV | - | 2/16 |
X-147003856-T-C | FMR1 | c.104+353T>C | - | IntronicSNV | - | 2/16 |
17-66420592-A-T | WIPI1 | c.1293+1624T>A | - | IntronicSNV | - | 12/12 |
15-67011946-T-C | SMAD6 | c.952+3110T>C | - | IntronicSNV | - | 3/3 |
18-48565937-C-T | SMAD4 | c.1-7480C>T | - | IntronicSNV | - | 1/11 |
18-45370750-A-T | SMAD2 | c.1280+961T>A | - | IntronicSNV | - | 10/10 |
6-152197152-C-A | ESR1 | c.644-4638C>A | - | IntronicSNV | - | 2/7 |
8-141543322-A-G | AGO2 | c.2272-608T>C | - | IntronicSNV | - | 17/18 |
18-45421899-T-A | SMAD2 | c.236+993A>T | - | IntronicSNV | - | 2/10 |
18-45421899-T-C | SMAD2 | c.236+993A>G | - | IntronicSNV | - | 2/10 |
5-31470285-C-T | DROSHA | c.2241+1885G>A | - | IntronicSNV | - | 16/34 |
4-146477058-T-C | SMAD1 | c.1254+1866T>C | - | IntronicSNV | - | 6/6 |
4-146477058-T-A | SMAD1 | c.1254+1866T>A | - | IntronicSNV | - | 6/6 |
14-95618898-T-C | DICER1 | c.-213+5370A>G | - | intron_variant | - | 1/28 |
20-21359361-T-G | XRN2 | c.2585-3271T>G | - | IntronicSNV | - | 27/29 |
5-31448623-A-T | DROSHA | c.2882+31T>A | - | IntronicSNV | - | 22/34 |
6-152277035-T-A | ESR1 | c.1096+11392T>A | - | IntronicSNV | - | 4/7 |
18-45394206-T-G | SMAD2 | c.655+488A>C | - | IntronicSNV | - | 5/10 |
15-67011946-T-A | SMAD6 | c.952+3110T>A | - | IntronicSNV | - | 3/3 |
18-45427205-A-C | SMAD2 | c.1-4078T>G | - | IntronicSNV | - | 1/10 |
1-154564712-T-A | ADAR | c.2271-1827A>T | - | IntronicSNV | - | 6/14 |
15-67428609-G-C | SMAD3 | c.207-28624G>C | - | IntronicSNV | - | 1/8 |
6-152400459-C-T | ESR1 | c.1370-15061C>T | - | IntronicSNV | - | 6/7 |
21-46549463-A-G | ADARB1 | c.-48+975A>G | - | intron_variant | - | 2/11 |
6-152392561-C-A | ESR1 | c.1369+10302C>A | - | IntronicSNV | - | 6/7 |
17-76162135-C-T | C17orf99 | c.*8C>T | - | 3-UTRSNV | 5/5 | - |
8-19815256-A-T | LPL | c.1019-1515A>T | - | IntronicSNV | - | 6/9 |
18-45440644-G-A | SMAD2 | c.-54+16088C>T | - | intron_variant | - | 1/10 |
8-141634864-A-G | AGO2 | c.22+10720T>C | - | IntronicSNV | - | 1/18 |
6-152205955-G-C | ESR1 | c.760+4049G>C | - | IntronicSNV | - | 3/7 |
6-152258255-A-T | ESR1 | c.761-7053A>T | - | IntronicSNV | - | 3/7 |
15-67464443-C-A | SMAD3 | c.658+1501C>A | - | IntronicSNV | - | 5/8 |
12-1050036-T-C | RAD52 | c.1-7812A>G | - | IntronicSNV | - | 1/11 |
12-1050036-T-A | RAD52 | c.1-7812A>T | - | IntronicSNV | - | 1/11 |
4-146404246-G-C | SMAD1 | c.-177+1056G>C | - | intron_variant | - | 1/6 |
21-46502554-C-G | ADARB1 | c.-220+7846C>G | - | intron_variant | - | 1/11 |
6-152330309-C-A | ESR1 | c.1097-2482C>A | - | IntronicSNV | - | 4/7 |
6-43515972-G-A | XPO5 | c.2060+26C>T | - | IntronicSNV | - | 18/31 |
6-152172291-C-G | ESR1 | c.643+8369C>G | - | IntronicSNV | - | 2/7 |
1-154575321-G-A | ADAR | c.16-219C>T | - | IntronicSNV | - | 1/14 |
4-146423398-A-G | SMAD1 | c.1-12368A>G | - | IntronicSNV | - | 1/6 |
4-146423398-A-T | SMAD1 | c.1-12368A>T | - | IntronicSNV | - | 1/6 |
21-46516192-C-T | ADARB1 | c.-220+21484C>T | - | intron_variant | - | 1/11 |
17-62499312-T-C | DDX5 | c.804A>G | p.Gln268Gln | Synonymous | 7/13 | - |
5-31472550-T-C | DROSHA | c.2072-211A>G | - | IntronicSNV | - | 15/34 |
22-20068086-G-C | DGCR8 | c.-278+180G>C | - | intron_variant | - | 1/12 |
8-141549333-G-A | AGO2 | c.2169+86C>T | - | IntronicSNV | - | 16/18 |
4-146465654-A-T | SMAD1 | c.775+1804A>T | - | IntronicSNV | - | 4/6 |
18-45414570-A-G | SMAD2 | c.236+8322T>C | - | IntronicSNV | - | 2/10 |
18-45434036-G-A | SMAD2 | c.1-10909C>T | - | IntronicSNV | - | 1/10 |
21-46562012-C-T | ADARB1 | c.-48+13524C>T | - | intron_variant | - | 2/11 |
6-43526887-A-G | XPO5 | c.1222-559T>C | - | IntronicSNV | - | 11/31 |
1-154577515-C-T | ADAR | c.16-2413G>A | - | IntronicSNV | - | 1/14 |
1-26738226-T-C | LIN28A | c.228+153T>C | - | IntronicSNV | - | 2/3 |
6-43540530-G-A | XPO5 | c.228-215C>T | - | IntronicSNV | - | 2/31 |
6-152236433-A-G | ESR1 | c.761-28875A>G | - | IntronicSNV | - | 3/7 |
X-147010320-G-A | FMR1 | c.414G>A | p.Arg138Arg | Synonymous | 5/17 | - |
15-67404969-C-G | SMAD3 | c.206+46271C>G | - | IntronicSNV | - | 1/8 |
15-67068248-G-A | SMAD6 | c.953-5087G>A | - | IntronicSNV | - | 3/3 |
21-46504505-G-C | ADARB1 | c.-220+9797G>C | - | intron_variant | - | 1/11 |
14-55344901-C-T | GCH1 | c.344-12747G>A | - | IntronicSNV | - | 1/5 |
2-189997834-G-A | COL5A2 | c.98-22659C>T | - | IntronicSNV | - | 1/53 |
18-45380449-T-A | SMAD2 | c.731-2751A>T | - | IntronicSNV | - | 6/10 |
15-67465638-C-T | SMAD3 | c.658+2696C>T | - | IntronicSNV | - | 5/8 |
1-153639235-G-A | ILF2 | c.394+796C>T | - | IntronicSNV | - | 6/13 |
6-43505541-C-A | XPO5 | c.2343-3797G>T | - | IntronicSNV | - | 20/31 |
12-1055081-C-T | RAD52 | c.-19+3687G>A | - | intron_variant | - | 1/11 |
6-152260719-C-T | ESR1 | c.761-4589C>T | - | IntronicSNV | - | 3/7 |
3-32913080-C-T | TRIM71 | c.853-2230C>T | - | IntronicSNV | - | 1/3 |
1-38014722-C-T | SNIP1 | c.327+3524G>A | - | IntronicSNV | - | 2/3 |
15-67022292-T-G | SMAD6 | c.952+13456T>G | - | IntronicSNV | - | 3/3 |
6-152339458-T-A | ESR1 | c.1235+6529T>A | - | IntronicSNV | - | 5/7 |
3-32913080-C-G | TRIM71 | c.853-2230C>G | - | IntronicSNV | - | 1/3 |
18-45377882-G-T | SMAD2 | c.731-184C>A | - | IntronicSNV | - | 6/10 |
18-45377882-G-A | SMAD2 | c.731-184C>T | - | IntronicSNV | - | 6/10 |
18-45377882-G-C | SMAD2 | c.731-184C>G | - | IntronicSNV | - | 6/10 |
12-1021382-C-T | RAD52 | c.*1175G>A | - | 3-UTRSNV | 12/12 | - |
14-95565497-G-A | DICER1 | c.4206+620C>T | - | IntronicSNV | - | 24/28 |
5-31424799-G-C | DROSHA | c.3217-221C>G | - | IntronicSNV | - | 26/34 |
18-46467492-G-C | SMAD7 | c.742+1359C>G | - | IntronicSNV | - | 3/3 |
19-40875810-C-T | PLD3 | c.430-5C>T | - | IntronicSNV | - | 6/12 |
19-40875810-C-G | PLD3 | c.430-5C>G | - | IntronicSNV | - | 6/12 |
12-1044758-G-C | RAD52 | c.1-2534C>G | - | IntronicSNV | - | 1/11 |
7-24966846-A-G | OSBPL3 | c.1-34755T>C | - | IntronicSNV | - | 1/22 |
8-141557760-G-A | AGO2 | c.1589-34C>T | - | IntronicSNV | - | 12/18 |
20-21331541-T-G | XRN2 | c.1936+1442T>G | - | IntronicSNV | - | 20/29 |
19-10794413-A-G | ILF3 | c.1965A>G | p.Arg655Arg | Synonymous | 16/18 | - |
6-43543113-T-G | XPO5 | c.105+384A>C | - | IntronicSNV | - | 1/31 |
6-43543113-T-C | XPO5 | c.105+384A>G | - | IntronicSNV | - | 1/31 |
5-31444429-C-G | DROSHA | c.2882+4225G>C | - | IntronicSNV | - | 22/34 |
8-141594460-T-C | AGO2 | c.215+758A>G | - | IntronicSNV | - | 2/18 |
16-4721353-A-G | MGRN1 | c.727-39A>G | - | IntronicSNV | - | 8/15 |
6-43513265-G-A | XPO5 | c.2342+1043C>T | - | IntronicSNV | - | 20/31 |
18-46462952-T-C | SMAD7 | c.742+5899A>G | - | IntronicSNV | - | 3/3 |
6-152246467-C-T | ESR1 | c.761-18841C>T | - | IntronicSNV | - | 3/7 |
11-34963416-T-C | PDHX | c.242-5637T>C | - | IntronicSNV | - | 2/10 |
15-67384876-T-G | SMAD3 | c.206+26178T>G | - | IntronicSNV | - | 1/8 |
15-67472683-G-C | SMAD3 | c.659-896G>C | - | IntronicSNV | - | 5/8 |
15-67472683-G-T | SMAD3 | c.659-896G>T | - | IntronicSNV | - | 5/8 |
14-95568593-C-T | DICER1 | c.4050+1090G>A | - | IntronicSNV | - | 23/28 |
6-152296585-G-A | ESR1 | c.1096+30942G>A | - | IntronicSNV | - | 4/7 |
3-32919070-C-T | TRIM71 | c.1020+3593C>T | - | IntronicSNV | - | 2/3 |
3-32920604-C-G | TRIM71 | c.1020+5127C>G | - | IntronicSNV | - | 2/3 |
1-154570660-C-A | ADAR | c.1786-208G>T | - | IntronicSNV | - | 3/14 |
3-32898414-C-T | TRIM71 | c.853-16896C>T | - | IntronicSNV | - | 1/3 |
14-95576298-T-C | DICER1 | c.2256+1356A>G | - | IntronicSNV | - | 16/28 |
18-46449632-A-G | SMAD7 | c.743-1352T>C | - | IntronicSNV | - | 3/3 |
6-43537199-G-A | XPO5 | c.622-725C>T | - | IntronicSNV | - | 5/31 |
5-31510758-C-T | DROSHA | c.1432+384G>A | - | IntronicSNV | - | 8/34 |
20-21308812-G-A | XRN2 | c.316-385G>A | - | IntronicSNV | - | 3/29 |
20-21308812-G-C | XRN2 | c.316-385G>C | - | IntronicSNV | - | 3/29 |
21-46599024-G-A | ADARB1 | c.964-1221G>A | - | IntronicSNV | - | 4/11 |
20-21346604-T-A | XRN2 | c.2456+262T>A | - | IntronicSNV | - | 26/29 |
6-43529756-C-T | XPO5 | c.1011+228G>A | - | IntronicSNV | - | 9/31 |
5-31510758-C-G | DROSHA | c.1432+384G>C | - | IntronicSNV | - | 8/34 |
18-45435202-C-G | SMAD2 | c.1-12075G>C | - | IntronicSNV | - | 1/10 |
14-95592100-G-A | DICER1 | c.903+817C>T | - | IntronicSNV | - | 9/28 |
1-154579634-C-A | ADAR | c.15+834G>T | - | IntronicSNV | - | 1/14 |
14-95574310-T-C | DICER1 | c.2557A>G | p.Ile853Val | Missense | 18/29 | - |
15-67481248-C-T | SMAD3 | c.1154+1401C>T | - | IntronicSNV | - | 8/8 |
15-67047661-G-A | SMAD6 | c.953-25674G>A | - | IntronicSNV | - | 3/3 |
5-31471647-A-T | DROSHA | c.2241+523T>A | - | IntronicSNV | - | 16/34 |
6-43500471-G-C | XPO5 | c.2444-1158C>G | - | IntronicSNV | - | 21/31 |
6-43500471-G-A | XPO5 | c.2444-1158C>T | - | IntronicSNV | - | 21/31 |
6-152242715-T-C | ESR1 | c.761-22593T>C | - | IntronicSNV | - | 3/7 |
12-94965058-G-T | TMCC3 | c.*153C>A | - | 3-UTRSNV | 4/4 | - |
18-45425656-C-A | SMAD2 | c.1-2529G>T | - | IntronicSNV | - | 1/10 |
12-94965058-G-A | TMCC3 | c.*153C>T | - | 3-UTRSNV | 4/4 | - |
X-147017292-T-C | FMR1 | c.881-731T>C | - | IntronicSNV | - | 9/16 |
6-152232018-C-T | ESR1 | c.760+30112C>T | - | IntronicSNV | - | 3/7 |
19-40875810-C-A | PLD3 | c.430-5C>A | - | IntronicSNV | - | 6/12 |
15-67052108-C-G | SMAD6 | c.953-21227C>G | - | IntronicSNV | - | 3/3 |
15-67052108-C-T | SMAD6 | c.953-21227C>T | - | IntronicSNV | - | 3/3 |
4-146476621-G-A | SMAD1 | c.1254+1429G>A | - | IntronicSNV | - | 6/6 |
X-147028243-T-C | FMR1 | c.1737+1107T>C | - | IntronicSNV | - | 16/16 |
1-10287824-C-T | KIF1B | c.1-4563C>T | - | IntronicSNV | - | 1/46 |
6-43497751-G-C | XPO5 | c.2677+675C>G | - | IntronicSNV | - | 23/31 |
5-31406980-T-C | DROSHA | c.3927A>G | p.Ile1309Met | Missense | 33/35 | - |
5-31406980-T-G | DROSHA | c.3927A>C | p.Ile1309Ile | Synonymous | 33/35 | - |
12-1043143-C-T | RAD52 | c.1-919G>A | - | IntronicSNV | - | 1/11 |
18-45425478-C-A | SMAD2 | c.1-2351G>T | - | IntronicSNV | - | 1/10 |
6-43541849-G-A | XPO5 | c.106-511C>T | - | IntronicSNV | - | 1/31 |
15-67049210-G-A | SMAD6 | c.953-24125G>A | - | IntronicSNV | - | 3/3 |
20-21295988-C-T | XRN2 | c.76-10929C>T | - | IntronicSNV | - | 1/29 |
15-67477516-C-T | SMAD3 | c.1009+314C>T | - | IntronicSNV | - | 7/8 |
20-21288794-T-A | XRN2 | c.75+4683T>A | - | IntronicSNV | - | 1/29 |
18-45379349-C-T | SMAD2 | c.731-1651G>A | - | IntronicSNV | - | 6/10 |
19-10766798-A-C | ILF3 | c.-91+1635A>C | - | intron_variant | - | 1/17 |
19-10766798-A-T | ILF3 | c.-91+1635A>T | - | intron_variant | - | 1/17 |
19-10780130-G-A | ILF3 | c.1-1152G>A | - | IntronicSNV | - | 1/17 |
19-10780130-G-C | ILF3 | c.1-1152G>C | - | IntronicSNV | - | 1/17 |
4-102251501-T-C | PPP3CA | c.58+16395A>G | - | IntronicSNV | - | 1/13 |
22-20085721-T-C | DGCR8 | c.1689+3403T>C | - | IntronicSNV | - | 8/12 |
6-43508876-T-G | XPO5 | c.2342+5432A>C | - | IntronicSNV | - | 20/31 |
8-141605933-C-T | AGO2 | c.23-10523G>A | - | IntronicSNV | - | 1/18 |
1-154570903-T-C | ADAR | c.1760A>G | p.Tyr587Cys | Missense | 3/15 | - |
15-67393803-A-T | SMAD3 | c.206+35105A>T | - | IntronicSNV | - | 1/8 |
1-38014838-A-G | SNIP1 | c.327+3408T>C | - | IntronicSNV | - | 2/3 |
15-67371324-T-A | SMAD3 | c.206+12626T>A | - | IntronicSNV | - | 1/8 |
6-152145986-G-T | ESR1 | c.452+16487G>T | - | IntronicSNV | - | 1/7 |
1-26747233-C-A | LIN28A | c.229-4561C>A | - | IntronicSNV | - | 2/3 |
6-152132431-G-A | ESR1 | c.452+2932G>A | - | IntronicSNV | - | 1/7 |
12-94965058-G-C | TMCC3 | c.*153C>G | - | 3-UTRSNV | 4/4 | - |
18-45425656-C-T | SMAD2 | c.1-2529G>A | - | IntronicSNV | - | 1/10 |
18-45417160-A-G | SMAD2 | c.236+5732T>C | - | IntronicSNV | - | 2/10 |
4-146422102-A-G | SMAD1 | c.1-13664A>G | - | IntronicSNV | - | 1/6 |
12-130854715-G-T | PIWIL1 | c.2322-1006G>T | - | IntronicSNV | - | 19/19 |
12-130854715-G-C | PIWIL1 | c.2322-1006G>C | - | IntronicSNV | - | 19/19 |
6-43512034-T-G | XPO5 | c.2342+2274A>C | - | IntronicSNV | - | 20/31 |
6-43512034-T-C | XPO5 | c.2342+2274A>G | - | IntronicSNV | - | 20/31 |
4-146467426-A-G | SMAD1 | c.776-429A>G | - | IntronicSNV | - | 4/6 |
4-146431101-G-T | SMAD1 | c.1-4665G>T | - | IntronicSNV | - | 1/6 |
15-67484297-C-T | SMAD3 | c.*1423C>T | - | 3-UTRSNV | 9/9 | - |
1-154580458-C-A | ADAR | c.15+10G>T | - | IntronicSNV | - | 1/14 |
17-28444183-A-C | NSRP1 | c.20+302A>C | - | IntronicSNV | - | 1/6 |
18-45379545-A-C | SMAD2 | c.731-1847T>G | - | IntronicSNV | - | 6/10 |
20-21312108-T-C | XRN2 | c.577-91T>C | - | IntronicSNV | - | 6/29 |
6-152359964-C-T | ESR1 | c.1236-22162C>T | - | IntronicSNV | - | 5/7 |
6-119390263-G-C | FAM184A | c.159+9043C>G | - | IntronicSNV | - | 1/17 |
12-130824283-C-G | PIWIL1 | c.-13+1592C>G | - | intron_variant | - | 1/19 |
15-67392656-G-A | SMAD3 | c.206+33958G>A | - | IntronicSNV | - | 1/8 |
4-146467426-A-T | SMAD1 | c.776-429A>T | - | IntronicSNV | - | 4/6 |
20-21300704-C-T | XRN2 | c.76-6213C>T | - | IntronicSNV | - | 1/29 |
19-10769263-C-T | ILF3 | c.-91+4100C>T | - | intron_variant | - | 1/17 |
6-152363092-G-A | ESR1 | c.1236-19034G>A | - | IntronicSNV | - | 5/7 |
20-21355846-A-G | XRN2 | c.2584+6618A>G | - | IntronicSNV | - | 27/29 |
15-67465320-G-T | SMAD3 | c.658+2378G>T | - | IntronicSNV | - | 5/8 |
15-67465320-G-A | SMAD3 | c.658+2378G>A | - | IntronicSNV | - | 5/8 |
18-45379545-A-G | SMAD2 | c.731-1847T>C | - | IntronicSNV | - | 6/10 |
17-28444183-A-T | NSRP1 | c.20+302A>T | - | IntronicSNV | - | 1/6 |
18-45421840-C-T | SMAD2 | c.236+1052G>A | - | IntronicSNV | - | 2/10 |
9-119448107-T-G | ASTN2 | c.2654-34035A>C | - | IntronicSNV | - | 15/21 |
18-45391360-T-C | SMAD2 | c.730+70A>G | - | IntronicSNV | - | 6/10 |
19-6422306-C-T | KHSRP | c.346+45G>A | - | IntronicSNV | - | 2/19 |
20-21349716-G-A | XRN2 | c.2584+488G>A | - | IntronicSNV | - | 27/29 |
18-45426635-C-T | SMAD2 | c.1-3508G>A | - | IntronicSNV | - | 1/10 |
18-45425478-C-G | SMAD2 | c.1-2351G>C | - | IntronicSNV | - | 1/10 |
20-21361900-T-A | XRN2 | c.2585-732T>A | - | IntronicSNV | - | 27/29 |
3-32929486-G-A | TRIM71 | c.1155+1926G>A | - | IntronicSNV | - | 3/3 |
3-32877425-T-G | TRIM71 | c.852+17001T>G | - | IntronicSNV | - | 1/3 |
18-45442677-C-T | SMAD2 | c.-54+14055G>A | - | intron_variant | - | 1/10 |
15-67402824-T-C | SMAD3 | c.206+44126T>C | - | IntronicSNV | - | 1/8 |
18-48586344-C-T | SMAD4 | c.955+58C>T | - | IntronicSNV | - | 8/11 |
6-43540844-A-G | XPO5 | c.227+373T>C | - | IntronicSNV | - | 2/31 |
7-100475020-G-A | SRRT | c.121+1687G>A | - | intron_variant | - | 2/19 |
12-131359562-G-T | RAN | c.435+284G>T | - | IntronicSNV | - | 5/6 |
7-100475020-G-T | SRRT | c.121+1687G>T | - | intron_variant | - | 2/19 |
6-152160654-T-C | ESR1 | c.453-3078T>C | - | IntronicSNV | - | 1/7 |
19-10787744-C-G | ILF3 | c.412-95C>G | - | IntronicSNV | - | 4/17 |
17-62501267-T-C | DDX5 | c.45-307A>G | - | IntronicSNV | - | 1/12 |
6-152276604-C-T | ESR1 | c.1096+10961C>T | - | IntronicSNV | - | 4/7 |
6-151918856-T-G | CCDC170 | c.1710+1144T>G | - | IntronicSNV | - | 9/10 |
6-151918856-T-C | CCDC170 | c.1710+1144T>C | - | IntronicSNV | - | 9/10 |
18-45414921-G-A | SMAD2 | c.236+7971C>T | - | IntronicSNV | - | 2/10 |
8-141566926-G-A | AGO2 | c.1026+262C>T | - | IntronicSNV | - | 8/18 |
21-46556555-G-A | ADARB1 | c.-48+8067G>A | - | intron_variant | - | 2/11 |
5-31449869-G-C | DROSHA | c.2683-343C>G | - | IntronicSNV | - | 20/34 |
8-141572809-C-T | AGO2 | c.337-76G>A | - | IntronicSNV | - | 3/18 |
8-141620354-A-C | AGO2 | c.23-24944T>G | - | IntronicSNV | - | 1/18 |
15-67048582-T-A | SMAD6 | c.953-24753T>A | - | IntronicSNV | - | 3/3 |
6-152296241-G-A | ESR1 | c.1096+30598G>A | - | IntronicSNV | - | 4/7 |
18-45435990-C-T | SMAD2 | c.1-12863G>A | - | IntronicSNV | - | 1/10 |
X-147026039-C-T | FMR1 | c.1472-350C>T | - | IntronicSNV | - | 14/16 |
18-45435990-C-G | SMAD2 | c.1-12863G>C | - | IntronicSNV | - | 1/10 |
6-152152988-A-C | ESR1 | c.453-10744A>C | - | IntronicSNV | - | 1/7 |
18-45452321-G-A | SMAD2 | c.-54+4411C>T | - | intron_variant | - | 1/10 |
8-6479658-G-A | MCPH1 | c.2452+446G>A | - | IntronicSNV | - | 13/13 |
8-6479658-G-T | MCPH1 | c.2452+446G>T | - | IntronicSNV | - | 13/13 |
15-67049688-G-A | SMAD6 | c.953-23647G>A | - | IntronicSNV | - | 3/3 |
11-116708413-C-T | APOA1 | c.-113G>A | - | 5_prime_UTR_variant | 1/4 | - |
20-21301696-C-T | XRN2 | c.76-5221C>T | - | IntronicSNV | - | 1/29 |
22-20089083-G-A | DGCR8 | c.1690-4617G>A | - | IntronicSNV | - | 8/12 |
20-21293029-G-A | XRN2 | c.75+8918G>A | - | IntronicSNV | - | 1/29 |
20-21293029-G-C | XRN2 | c.75+8918G>C | - | IntronicSNV | - | 1/29 |
6-152402709-G-A | ESR1 | c.1370-12811G>A | - | IntronicSNV | - | 6/7 |
6-43490502-G-A | XPO5 | c.*1104C>T | - | 3-UTRSNV | 32/32 | - |
20-21326098-T-C | XRN2 | c.1530-955T>C | - | IntronicSNV | - | 16/29 |
19-10788196-C-T | ILF3 | c.559+210C>T | - | IntronicSNV | - | 5/17 |
6-152193824-C-T | ESR1 | c.644-7966C>T | - | IntronicSNV | - | 2/7 |
5-31511467-C-T | DROSHA | c.1291-184G>A | - | IntronicSNV | - | 7/34 |
15-67059979-C-T | SMAD6 | c.953-13356C>T | - | IntronicSNV | - | 3/3 |
6-152379502-G-T | ESR1 | c.1236-2624G>T | - | IntronicSNV | - | 5/7 |
5-31514134-T-A | DROSHA | c.1290+961A>T | - | IntronicSNV | - | 7/34 |
18-45376802-T-C | SMAD2 | c.784+843A>G | - | IntronicSNV | - | 7/10 |
6-152348124-G-A | ESR1 | c.1235+15195G>A | - | IntronicSNV | - | 5/7 |
12-130843964-T-A | PIWIL1 | c.1666-1761T>A | - | IntronicSNV | - | 14/19 |
17-58120456-A-G | HEATR6 | c.*468T>C | - | IntergenicSNV | 20/20 | - |
6-152348389-C-T | ESR1 | c.1235+15460C>T | - | IntronicSNV | - | 5/7 |
6-152348389-C-A | ESR1 | c.1235+15460C>A | - | IntronicSNV | - | 5/7 |
8-141576720-G-C | AGO2 | c.337-3987C>G | - | IntronicSNV | - | 3/18 |
8-141576720-G-T | AGO2 | c.337-3987C>A | - | IntronicSNV | - | 3/18 |
6-43503967-C-G | XPO5 | c.2343-2223G>C | - | IntronicSNV | - | 20/31 |
12-130845506-A-G | PIWIL1 | c.1666-219A>G | - | IntronicSNV | - | 14/19 |
3-32901300-C-A | TRIM71 | c.853-14010C>A | - | IntronicSNV | - | 1/3 |
17-649984-G-A | GEMIN4 | c.1299C>T | p.Phe433Phe | Synonymous | 2/2 | - |
20-21300030-G-A | XRN2 | c.76-6887G>A | - | IntronicSNV | - | 1/29 |
13-41384940-G-A | SLC25A15 | c.*1137G>A | - | 3-UTRSNV | 7/7 | - |
21-46562167-G-A | ADARB1 | c.-48+13679G>A | - | intron_variant | - | 2/11 |
3-32920380-C-G | TRIM71 | c.1020+4903C>G | - | IntronicSNV | - | 2/3 |
5-31509307-A-G | DROSHA | c.1433-425T>C | - | IntronicSNV | - | 8/34 |
17-649232-C-T | GEMIN4 | c.2051G>A | p.Arg684Gln | Missense | 2/2 | - |
6-152417142-G-A | ESR1 | c.1553+1439G>A | - | IntronicSNV | - | 7/7 |
5-31514367-C-T | DROSHA | c.1290+728G>A | - | IntronicSNV | - | 7/34 |
6-152306894-C-T | ESR1 | c.1097-25897C>T | - | IntronicSNV | - | 4/7 |
5-31471809-C-T | DROSHA | c.2241+361G>A | - | IntronicSNV | - | 16/34 |
7-100802786-A-G | AP1S1 | c.429+309A>G | - | IntronicSNV | - | 4/4 |
6-43506592-C-T | XPO5 | c.2343-4848G>A | - | IntronicSNV | - | 20/31 |
5-31442717-T-C | DROSHA | c.2883-5312A>G | - | IntronicSNV | - | 22/34 |
5-31501631-A-C | DROSHA | c.1668+3031T>G | - | IntronicSNV | - | 10/34 |
8-141556582-C-T | AGO2 | c.1748+985G>A | - | IntronicSNV | - | 13/18 |
8-19816125-T-C | LPL | c.1019-646T>C | - | IntronicSNV | - | 6/9 |
19-8376431-G-A | NDUFA7 | c.300C>T | p.Pro100Pro | Synonymous | 4/4 | - |
1-154573419-C-T | ADAR | c.1601+98G>A | - | IntronicSNV | - | 2/14 |
19-8376431-G-C | NDUFA7 | c.300C>G | p.Pro100Pro | Synonymous | 4/4 | - |
19-8376431-G-T | NDUFA7 | c.300C>A | p.Pro100Pro | Synonymous | 4/4 | - |
18-46461959-T-C | SMAD7 | c.742+6892A>G | - | IntronicSNV | - | 3/3 |
6-152284912-C-T | ESR1 | c.1096+19269C>T | - | IntronicSNV | - | 4/7 |
1-154568665-A-G | ADAR | c.2270+616T>C | - | IntronicSNV | - | 6/14 |
20-21315131-A-G | XRN2 | c.1233+308A>G | - | IntronicSNV | - | 13/29 |
17-62500689-T-C | DDX5 | c.210+106A>G | - | IntronicSNV | - | 2/12 |
4-146431543-A-G | SMAD1 | c.1-4223A>G | - | IntronicSNV | - | 1/6 |
6-43504412-G-A | XPO5 | c.2343-2668C>T | - | IntronicSNV | - | 20/31 |
12-81738584-C-G | PPFIA2 | c.2233-112G>C | - | IntronicSNV | - | 17/30 |
6-43503236-G-A | XPO5 | c.2343-1492C>T | - | IntronicSNV | - | 20/31 |
15-67033421-C-T | SMAD6 | c.952+24585C>T | - | IntronicSNV | - | 3/3 |
18-45406242-T-C | SMAD2 | c.237-9307A>G | - | IntronicSNV | - | 2/10 |
12-1046884-G-A | RAD52 | c.1-4660C>T | - | IntronicSNV | - | 1/11 |
5-31499020-C-A | DROSHA | c.1669-3541G>T | - | IntronicSNV | - | 10/34 |
18-45391419-A-T | SMAD2 | c.730+11T>A | - | IntronicSNV | - | 6/10 |
1-226595647-C-T | PARP1 | c.1-17G>A | - | 5-UTRSNV | 1/23 | - |
18-45404603-T-A | SMAD2 | c.237-7668A>T | - | IntronicSNV | - | 2/10 |
1-154565284-A-T | ADAR | c.2271-2399T>A | - | IntronicSNV | - | 6/14 |
3-32920380-C-A | TRIM71 | c.1020+4903C>A | - | IntronicSNV | - | 2/3 |
18-45372936-G-T | SMAD2 | c.998-765C>A | - | IntronicSNV | - | 8/10 |
6-43506592-C-A | XPO5 | c.2343-4848G>T | - | IntronicSNV | - | 20/31 |
6-152272256-C-A | ESR1 | c.1096+6613C>A | - | IntronicSNV | - | 4/7 |
X-153678706-C-T | FAM50A | c.1011+39C>T | - | IntronicSNV | - | 12/12 |
18-45378611-T-A | SMAD2 | c.731-913A>T | - | IntronicSNV | - | 6/10 |
8-141627703-G-A | AGO2 | c.22+17881C>T | - | IntronicSNV | - | 1/18 |
20-21328952-G-C | XRN2 | c.1774-27G>C | - | IntronicSNV | - | 18/29 |
12-1044758-G-A | RAD52 | c.1-2534C>T | - | IntronicSNV | - | 1/11 |
19-10778296-A-G | ILF3 | c.1-2986A>G | - | IntronicSNV | - | 1/17 |
18-45412071-G-A | SMAD2 | c.236+10821C>T | - | IntronicSNV | - | 2/10 |
18-45431412-T-C | SMAD2 | c.1-8285A>G | - | IntronicSNV | - | 1/10 |
18-45409475-T-G | SMAD2 | c.237-12540A>C | - | IntronicSNV | - | 2/10 |
5-31503712-C-A | DROSHA | c.1668+950G>T | - | IntronicSNV | - | 10/34 |
18-45409475-T-C | SMAD2 | c.237-12540A>G | - | IntronicSNV | - | 2/10 |
18-45402571-C-A | SMAD2 | c.237-5636G>T | - | IntronicSNV | - | 2/10 |
X-147019486-T-G | FMR1 | c.1126-132T>G | - | IntronicSNV | - | 11/16 |
15-67396056-G-A | SMAD3 | c.206+37358G>A | - | IntronicSNV | - | 1/8 |
15-67432319-G-A | SMAD3 | c.207-24914G>A | - | IntronicSNV | - | 1/8 |
7-24955384-G-A | OSBPL3 | c.1-23293C>T | - | IntronicSNV | - | 1/22 |
6-152318710-G-A | ESR1 | c.1097-14081G>A | - | IntronicSNV | - | 4/7 |
18-45430245-T-A | SMAD2 | c.1-7118A>T | - | IntronicSNV | - | 1/10 |
6-43511697-A-C | XPO5 | c.2342+2611T>G | - | IntronicSNV | - | 20/31 |
8-141556772-G-A | AGO2 | c.1748+795C>T | - | IntronicSNV | - | 13/18 |
6-152376908-T-C | ESR1 | c.1236-5218T>C | - | IntronicSNV | - | 5/7 |
3-32887143-A-G | TRIM71 | c.852+26719A>G | - | IntronicSNV | - | 1/3 |
20-21300667-T-C | XRN2 | c.76-6250T>C | - | IntronicSNV | - | 1/29 |
3-32884554-C-T | TRIM71 | c.852+24130C>T | - | IntronicSNV | - | 1/3 |
14-95610324-T-A | DICER1 | c.-212-2239A>T | - | intron_variant | - | 1/28 |
22-20077122-A-G | DGCR8 | c.881-70A>G | - | IntronicSNV | - | 3/12 |
6-152356298-G-C | ESR1 | c.1235+23369G>C | - | IntronicSNV | - | 5/7 |
3-32919968-A-G | TRIM71 | c.1020+4491A>G | - | IntronicSNV | - | 2/3 |
18-45390375-C-T | SMAD2 | c.730+1055G>A | - | IntronicSNV | - | 6/10 |
18-45434094-A-G | SMAD2 | c.1-10967T>C | - | IntronicSNV | - | 1/10 |
18-45385448-G-C | SMAD2 | c.730+5982C>G | - | IntronicSNV | - | 6/10 |
15-67464545-C-T | SMAD3 | c.658+1603C>T | - | IntronicSNV | - | 5/8 |
12-54675320-C-A | HNRNPA1 | c.132+34C>A | - | IntronicSNV | - | 2/10 |
6-152152755-T-G | ESR1 | c.453-10977T>G | - | IntronicSNV | - | 1/7 |
1-38010158-A-G | SNIP1 | c.328-3802T>C | - | IntronicSNV | - | 2/3 |
21-46508746-C-T | ADARB1 | c.-220+14038C>T | - | intron_variant | - | 1/11 |
18-45373727-G-A | SMAD2 | c.997+1119C>T | - | IntronicSNV | - | 8/10 |
5-31518912-T-G | DROSHA | c.947+2318A>C | - | IntronicSNV | - | 5/34 |
18-45455084-T-G | SMAD2 | c.-54+1648A>C | - | intron_variant | - | 1/10 |
12-130850356-T-C | PIWIL1 | c.2196-1322T>C | - | IntronicSNV | - | 18/19 |
1-65045574-C-T | CACHD1 | c.262-2265C>T | - | intron_variant | - | 2/26 |
5-31464615-G-A | DROSHA | c.2467-165C>T | - | IntronicSNV | - | 18/34 |
20-21352305-C-T | XRN2 | c.2584+3077C>T | - | IntronicSNV | - | 27/29 |
14-95581496-C-T | DICER1 | c.1907+508G>A | - | IntronicSNV | - | 13/28 |
18-46452966-G-A | SMAD7 | c.743-4686C>T | - | IntronicSNV | - | 3/3 |
5-31412288-G-A | DROSHA | c.3526-1294C>T | - | IntronicSNV | - | 29/34 |
17-56080248-C-G | SRSF1 | c.*2519G>C | - | 3-UTRSNV | 4/4 | - |
5-31496847-T-C | DROSHA | c.1669-1368A>G | - | IntronicSNV | - | 10/34 |
1-38004314-G-A | SNIP1 | c.927-701C>T | - | IntronicSNV | - | 3/3 |
1-154559795-G-A | ADAR | c.3019+806C>T | - | IntronicSNV | - | 11/14 |
5-31499015-T-C | DROSHA | c.1669-3536A>G | - | IntronicSNV | - | 10/34 |
9-135821099-C-T | GFI1B | c.-701+43C>T | - | intron_variant | - | 1/10 |
5-31440485-T-G | DROSHA | c.2883-3080A>C | - | IntronicSNV | - | 22/34 |
5-31440485-T-C | DROSHA | c.2883-3080A>G | - | IntronicSNV | - | 22/34 |
12-1058663-G-A | RAD52 | c.-19+105C>T | - | intron_variant | - | 1/11 |
14-95580386-T-C | DICER1 | c.1908-825A>G | - | IntronicSNV | - | 13/28 |
8-141563346-G-A | AGO2 | c.1270-1811C>T | - | IntronicSNV | - | 10/18 |
15-67476756-C-T | SMAD3 | c.872-309C>T | - | IntronicSNV | - | 6/8 |
1-38019854-G-A | SNIP1 | c.1-24C>T | - | 5-UTRSNV | 1/4 | - |
15-67439966-C-T | SMAD3 | c.207-17267C>T | - | IntronicSNV | - | 1/8 |
15-67439966-C-G | SMAD3 | c.207-17267C>G | - | IntronicSNV | - | 1/8 |
6-152303809-C-T | ESR1 | c.1097-28982C>T | - | IntronicSNV | - | 4/7 |
15-67422040-A-C | SMAD3 | c.207-35193A>C | - | IntronicSNV | - | 1/8 |
1-154573139-A-G | ADAR | c.1601+378T>C | - | IntronicSNV | - | 2/14 |
6-43524482-T-C | XPO5 | c.1313-781A>G | - | IntronicSNV | - | 12/31 |
19-6414402-G-A | KHSRP | c.2128-271C>T | - | IntronicSNV | - | 19/19 |
8-141543322-A-C | AGO2 | c.2272-608T>G | - | IntronicSNV | - | 17/18 |
18-48563503-G-T | SMAD4 | c.-128+6510G>T | - | intron_variant | - | 1/11 |
17-653068-T-C | GEMIN4 | c.11-1796A>G | - | IntronicSNV | - | 1/1 |
19-6414402-G-T | KHSRP | c.2128-271C>A | - | IntronicSNV | - | 19/19 |
21-46561322-A-G | ADARB1 | c.-48+12834A>G | - | intron_variant | - | 2/11 |
1-226577306-C-T | PARP1 | c.617+805G>A | - | IntronicSNV | - | 4/22 |
22-20085721-T-A | DGCR8 | c.1689+3403T>A | - | IntronicSNV | - | 8/12 |
8-141606473-G-A | AGO2 | c.23-11063C>T | - | IntronicSNV | - | 1/18 |
18-45359210-A-G | SMAD2 | c.*8988T>C | - | IntergenicSNV | 11/11 | - |
X-147010398-T-G | FMR1 | c.419+73T>G | - | IntronicSNV | - | 5/16 |
12-130848841-A-G | PIWIL1 | c.2195+1152A>G | - | IntronicSNV | - | 18/19 |
X-147006879-G-T | FMR1 | c.105-179G>T | - | IntronicSNV | - | 2/16 |
20-21325860-G-A | XRN2 | c.1529+1014G>A | - | IntronicSNV | - | 16/29 |
6-43534869-G-A | XPO5 | c.834+37C>T | - | IntronicSNV | - | 7/31 |
5-31401003-T-C | DROSHA | c.*536A>G | - | 3-UTRSNV | 35/35 | - |
12-1021811-T-C | RAD52 | c.*746A>G | - | 3-UTRSNV | 12/12 | - |
20-21295509-G-T | XRN2 | c.75+11398G>T | - | IntronicSNV | - | 1/29 |
1-112309184-A-G | DDX20 | c.2138A>G | p.Glu713Gly | Missense | 11/11 | - |
7-73125664-C-T | STX1A | c.31-2212G>A | - | IntronicSNV | - | 1/9 |
6-152281812-G-T | ESR1 | c.1096+16169G>T | - | IntronicSNV | - | 4/7 |
15-67410637-A-G | SMAD3 | c.207-46596A>G | - | IntronicSNV | - | 1/8 |
1-26745439-G-T | LIN28A | c.229-6355G>T | - | IntronicSNV | - | 2/3 |
3-32877425-T-C | TRIM71 | c.852+17001T>C | - | IntronicSNV | - | 1/3 |
20-21316599-C-T | XRN2 | c.1233+1776C>T | - | IntronicSNV | - | 13/29 |
3-20179097-C-T | KAT2B | c.1860+553C>T | - | IntronicSNV | - | 12/17 |
15-67407578-C-T | SMAD3 | c.206+48880C>T | - | IntronicSNV | - | 1/8 |
18-45427432-A-G | SMAD2 | c.1-4305T>C | - | IntronicSNV | - | 1/10 |
6-152321643-G-T | ESR1 | c.1097-11148G>T | - | IntronicSNV | - | 4/7 |
15-67371172-T-C | SMAD3 | c.206+12474T>C | - | IntronicSNV | - | 1/8 |
8-141576720-G-A | AGO2 | c.337-3987C>T | - | IntronicSNV | - | 3/18 |
18-45410147-C-T | SMAD2 | c.236+12745G>A | - | IntronicSNV | - | 2/10 |
15-67386084-G-A | SMAD3 | c.206+27386G>A | - | IntronicSNV | - | 1/8 |
19-6416123-A-G | KHSRP | c.1598+186T>C | - | IntronicSNV | - | 15/19 |
6-119390263-G-A | FAM184A | c.159+9043C>T | - | IntronicSNV | - | 1/17 |
18-46461959-T-A | SMAD7 | c.742+6892A>T | - | IntronicSNV | - | 3/3 |
21-46590300-C-T | ADARB1 | c.1-1272C>T | - | IntronicSNV | - | 2/11 |
6-152304328-C-T | ESR1 | c.1097-28463C>T | - | IntronicSNV | - | 4/7 |
7-24958281-C-T | OSBPL3 | c.1-26190G>A | - | IntronicSNV | - | 1/22 |
12-130850911-G-T | PIWIL1 | c.2196-767G>T | - | IntronicSNV | - | 18/19 |
7-100479167-C-T | SRRT | c.251-113C>T | - | intron_variant | - | 3/19 |
18-45453000-C-T | SMAD2 | c.-54+3732G>A | - | intron_variant | - | 1/10 |
20-21296559-C-T | XRN2 | c.76-10358C>T | - | IntronicSNV | - | 1/29 |
14-95580470-A-G | DICER1 | c.1908-909T>C | - | IntronicSNV | - | 13/28 |
14-95580470-A-C | DICER1 | c.1908-909T>G | - | IntronicSNV | - | 13/28 |
12-130850911-G-A | PIWIL1 | c.2196-767G>A | - | IntronicSNV | - | 18/19 |
18-45430582-G-A | SMAD2 | c.1-7455C>T | - | IntronicSNV | - | 1/10 |
6-43531420-T-C | XPO5 | c.912-1337A>G | - | IntronicSNV | - | 8/31 |
6-152162304-C-T | ESR1 | c.453-1428C>T | - | IntronicSNV | - | 1/7 |
6-152162304-C-G | ESR1 | c.453-1428C>G | - | IntronicSNV | - | 1/7 |
6-43524482-T-A | XPO5 | c.1313-781A>T | - | IntronicSNV | - | 12/31 |
20-21296559-C-A | XRN2 | c.76-10358C>A | - | IntronicSNV | - | 1/29 |
20-21296559-C-G | XRN2 | c.76-10358C>G | - | IntronicSNV | - | 1/29 |
15-67041805-C-T | SMAD6 | c.953-31530C>T | - | IntronicSNV | - | 3/3 |
6-152176334-C-A | ESR1 | c.643+12412C>A | - | IntronicSNV | - | 2/7 |
15-67025884-G-C | SMAD6 | c.952+17048G>C | - | IntronicSNV | - | 3/3 |
4-172896480-A-T | GALNTL6 | c.138+160611A>T | - | IntronicSNV | - | 2/12 |
4-146468331-G-C | SMAD1 | c.997+255G>C | - | IntronicSNV | - | 5/6 |
4-146436351-A-G | SMAD1 | c.400+186A>G | - | IntronicSNV | - | 2/6 |
6-152396077-G-A | ESR1 | c.1369+13818G>A | - | IntronicSNV | - | 6/7 |
5-31502238-G-A | DROSHA | c.1668+2424C>T | - | IntronicSNV | - | 10/34 |
20-21346604-T-C | XRN2 | c.2456+262T>C | - | IntronicSNV | - | 26/29 |
6-43516833-G-A | XPO5 | c.1860+393C>T | - | IntronicSNV | - | 17/31 |
21-46555331-A-G | ADARB1 | c.-48+6843A>G | - | intron_variant | - | 2/11 |
8-141544920-C-T | AGO2 | c.2271+647G>A | - | IntronicSNV | - | 17/18 |
3-32891509-T-C | TRIM71 | c.853-23801T>C | - | IntronicSNV | - | 1/3 |
X-147014521-T-C | FMR1 | c.880+239T>C | - | IntronicSNV | - | 9/16 |
6-152423199-C-A | ESR1 | c.*3098C>A | - | 3-UTRSNV | 8/8 | - |
3-32860717-C-G | TRIM71 | c.852+293C>G | - | IntronicSNV | - | 1/3 |
3-32860717-C-T | TRIM71 | c.852+293C>T | - | IntronicSNV | - | 1/3 |
8-145625538-C-G | CPSF1 | c.937+22G>C | - | IntronicSNV | - | 9/37 |
8-145625538-C-T | CPSF1 | c.937+22G>A | - | IntronicSNV | - | 9/37 |
8-145625538-C-A | CPSF1 | c.937+22G>T | - | IntronicSNV | - | 9/37 |
12-130845202-C-A | PIWIL1 | c.1666-523C>A | - | IntronicSNV | - | 14/19 |
12-130845202-C-T | PIWIL1 | c.1666-523C>T | - | IntronicSNV | - | 14/19 |
8-141566747-C-T | AGO2 | c.1027-362G>A | - | IntronicSNV | - | 8/18 |
15-67358772-G-A | SMAD3 | c.206+74G>A | - | IntronicSNV | - | 1/8 |
8-141566747-C-A | AGO2 | c.1027-362G>T | - | IntronicSNV | - | 8/18 |
12-130855474-G-A | PIWIL1 | c.2322-247G>A | - | IntronicSNV | - | 19/19 |
X-147012604-T-C | FMR1 | c.630+841T>C | - | IntronicSNV | - | 7/16 |
18-45402005-A-G | SMAD2 | c.237-5070T>C | - | IntronicSNV | - | 2/10 |
5-31425644-G-A | DROSHA | c.3217-1066C>T | - | IntronicSNV | - | 26/34 |
8-141582440-C-T | AGO2 | c.336+471G>A | - | IntronicSNV | - | 3/18 |
9-130452977-T-C | STXBP1 | c.*17-77T>C | - | intron_variant | - | 19/19 |
4-146478203-C-A | SMAD1 | c.1255-740C>A | - | IntronicSNV | - | 6/6 |
X-146999534-C-G | FMR1 | c.52-3917C>G | - | IntronicSNV | - | 1/16 |
15-67427344-C-T | SMAD3 | c.207-29889C>T | - | IntronicSNV | - | 1/8 |
20-21292228-G-C | XRN2 | c.75+8117G>C | - | IntronicSNV | - | 1/29 |
4-146440075-A-G | SMAD1 | c.400+3910A>G | - | IntronicSNV | - | 2/6 |
8-141582440-C-A | AGO2 | c.336+471G>T | - | IntronicSNV | - | 3/18 |
15-67405253-T-C | SMAD3 | c.206+46555T>C | - | IntronicSNV | - | 1/8 |
1-154575315-A-C | ADAR | c.16-213T>G | - | IntronicSNV | - | 1/14 |
18-45386395-T-A | SMAD2 | c.730+5035A>T | - | IntronicSNV | - | 6/10 |
18-45386395-T-C | SMAD2 | c.730+5035A>G | - | IntronicSNV | - | 6/10 |
21-46558799-G-A | ADARB1 | c.-48+10311G>A | - | intron_variant | - | 2/11 |
4-146423927-A-T | SMAD1 | c.1-11839A>T | - | IntronicSNV | - | 1/6 |
15-67382140-A-G | SMAD3 | c.206+23442A>G | - | IntronicSNV | - | 1/8 |
15-67458805-G-A | SMAD3 | c.533-312G>A | - | IntronicSNV | - | 3/8 |