15-99247795-G-A |
IGF1R |
c.95-2996G>A |
- |
IntronicSNV |
- |
1/20 |
14-105243220-G-A |
AKT1 |
c.176-113C>T |
- |
IntronicSNV |
- |
3/13 |
5-42470585-T-G |
GHR |
c.-12+46528T>G |
- |
intron_variant |
- |
1/9 |
2-128020546-G-A |
ERCC3 |
c.1946-1624C>T |
- |
IntronicSNV |
- |
12/14 |
19-44082429-C-A |
PINLYP |
c.71-313C>A |
- |
intron_variant |
- |
2/5 |
19-7283414-A-G |
INSR |
c.100+10389T>C |
- |
IntronicSNV |
- |
1/21 |
10-14995149-G-A |
DCLRE1C |
c.-181+752C>T |
- |
intron_variant |
- |
1/12 |
1-11854671-C-A |
MTHFR |
c.1167-76G>T |
- |
IntronicSNV |
- |
7/11 |
9-110075437-C-T |
RAD23B |
c.553+1419C>T |
- |
IntronicSNV |
- |
5/9 |
8-30999428-T-C |
WRN |
c.3233+137T>C |
- |
IntronicSNV |
- |
26/34 |
20-49162241-C-T |
PTPN1 |
c.1-19330C>T |
- |
IntronicSNV |
- |
1/8 |
10-60155791-C-T |
TFAM |
c.*957C>T |
- |
3-UTRSNV |
7/7 |
- |
3-142234534-G-A |
ATR |
c.4383-177C>T |
- |
IntronicSNV |
- |
24/46 |
12-102798177-G-A |
IGF1 |
c.403-1833C>T |
- |
IntronicSNV |
- |
3/3 |
2-217066703-G-A |
XRCC5 |
c.2110-2342G>A |
- |
IntronicSNV |
- |
19/20 |
1-154381103-A-G |
IL6R |
c.85+2913A>G |
- |
IntronicSNV |
- |
1/9 |
5-82636062-G-A |
XRCC4 |
c.894-12888G>A |
- |
IntronicSNV |
- |
7/7 |
5-1288547-T-A |
TERT |
c.1573+4881A>T |
- |
IntronicSNV |
- |
2/14 |
8-73925591-T-C |
TERF1 |
c.320-539T>C |
- |
IntronicSNV |
- |
1/9 |
12-133243621-A-G |
POLE |
c.2319+468T>C |
- |
IntronicSNV |
- |
20/48 |
10-14981536-A-C |
DCLRE1C |
c.17+273T>G |
- |
IntronicSNV |
- |
4/12 |
13-103499491-C-G |
ERCC5 |
c.88+787C>G |
- |
IntronicSNV |
- |
1/14 |
5-82372665-G-A |
TMEM167A |
c.3+475C>T |
- |
IntronicSNV |
- |
1/3 |
5-82372665-G-T |
TMEM167A |
c.3+475C>A |
- |
IntronicSNV |
- |
1/3 |
12-21647337-T-C |
RECQL |
c.17-2687A>G |
- |
IntronicSNV |
- |
2/14 |
19-45912343-A-G |
ERCC1 |
c.*590T>C |
- |
3-UTRSNV |
10/10 |
- |
19-7145374-C-T |
INSR |
c.2268-2273G>A |
- |
IntronicSNV |
- |
11/21 |
9-118953372-T-A |
PAPPA |
c.1478+2877T>A |
- |
IntronicSNV |
- |
2/21 |
16-57017319-G-A |
CETP |
c.1403G>A |
p.Arg468Gln |
Missense |
15/16 |
- |
19-5692311-G-C |
LONP1 |
c.2704-92C>G |
- |
IntronicSNV |
- |
17/17 |
10-94305189-A-G |
IDE |
c.99-7882T>C |
- |
IntronicSNV |
- |
1/24 |
15-99505062-C-T |
IGF1R |
c.*4391C>T |
- |
3-UTRSNV |
21/21 |
- |
5-60181500-T-C |
ERCC8 |
c.1122+1767A>G |
- |
IntronicSNV |
- |
11/11 |
5-80149981-A-G |
MSH3 |
c.2846A>G |
p.Gln949Arg |
Missense |
21/24 |
- |
5-80149981-A-T |
MSH3 |
c.2846A>T |
p.Gln949Leu |
Missense |
21/24 |
- |
5-1267356-T-A |
TERT |
c.2583-706A>T |
- |
IntronicSNV |
- |
9/14 |
9-110084328-C-T |
RAD23B |
c.746C>T |
p.Ala249Val |
Missense |
7/10 |
- |
9-110085255-G-A |
RAD23B |
c.817+856G>A |
- |
IntronicSNV |
- |
7/9 |
12-21649160-T-C |
RECQL |
c.16+3329A>G |
- |
IntronicSNV |
- |
2/14 |
19-629303-C-G |
POLRMT |
c.822+237G>C |
- |
IntronicSNV |
- |
3/20 |
16-89851033-C-T |
FANCA |
c.1470+229G>A |
- |
IntronicSNV |
- |
15/42 |
6-31783507-G-A |
HSPA1A |
c.1-27G>A |
- |
5-UTRSNV |
1/1 |
- |
8-48745127-T-G |
PRKDC |
c.8150-640A>C |
- |
intron_variant |
- |
60/85 |
19-41839631-T-C |
TGFB1 |
c.861-1445A>G |
- |
IntronicSNV |
- |
5/6 |
12-1050254-G-A |
RAD52 |
c.1-8030C>T |
- |
IntronicSNV |
- |
1/11 |
12-1024594-G-T |
RAD52 |
c.866-896C>A |
- |
IntronicSNV |
- |
9/11 |
17-59914717-G-A |
BRIP1 |
c.627+9745C>T |
- |
IntronicSNV |
- |
6/19 |
17-61566724-G-A |
ACE |
c.2641+231G>A |
- |
IntronicSNV |
- |
17/24 |
13-33593100-C-A |
KL |
c.819+1703C>A |
- |
IntronicSNV |
- |
1/4 |
12-133220526-T-C |
POLE |
c.4187A>G |
p.Asn1396Ser |
Missense |
33/49 |
- |
7-124538036-C-T |
POT1 |
c.-302+279G>A |
- |
intron_variant |
- |
4/17 |
6-160524773-T-C |
IGF2R |
c.6996-5T>C |
- |
IntronicSNV |
- |
46/47 |
5-80132033-A-G |
MSH3 |
c.2814-17916A>G |
- |
IntronicSNV |
- |
20/23 |
6-160469947-C-T |
IGF2R |
c.2514+372C>T |
- |
IntronicSNV |
- |
18/47 |
10-89653686-A-G |
PTEN |
c.80-96A>G |
- |
IntronicSNV |
- |
1/8 |
2-217018256-T-C |
XRCC5 |
c.1670+5257T>C |
- |
IntronicSNV |
- |
14/20 |
6-160524773-T-A |
IGF2R |
c.6996-5T>A |
- |
IntronicSNV |
- |
46/47 |
15-65108504-A-T |
PIF1 |
c.1919T>A |
p.Ile640Asn |
Missense |
13/13 |
- |
15-65108504-A-C |
PIF1 |
c.1919T>G |
p.Ile640Ser |
Missense |
13/13 |
- |
15-99502527-C-T |
IGF1R |
c.*1856C>T |
- |
3-UTRSNV |
21/21 |
- |
13-110430768-G-A |
IRS2 |
c.4012+3621C>T |
- |
IntronicSNV |
- |
1/1 |
13-110430768-G-T |
IRS2 |
c.4012+3621C>A |
- |
IntronicSNV |
- |
1/1 |
15-89859994-C-A |
POLG |
c.3708G>T |
p.Gln1236His |
Missense |
23/23 |
- |
5-80168937-G-A |
MSH3 |
c.3133G>A |
p.Ala1045Thr |
Missense |
23/24 |
- |
16-69391714-C-T |
TERF2 |
c.1427-250G>A |
- |
IntronicSNV |
- |
8/9 |
13-103515085-G-C |
ERCC5 |
c.1586G>C |
p.Cys529Ser |
Missense |
8/15 |
- |
13-103515085-G-A |
ERCC5 |
c.1586G>A |
p.Cys529Tyr |
Missense |
8/15 |
- |
16-89841552-T-C |
FANCA |
c.1900+598A>G |
- |
IntronicSNV |
- |
21/42 |
5-42678345-T-C |
GHR |
c.137-10647T>C |
- |
IntronicSNV |
- |
3/9 |
12-102844236-G-A |
IGF1 |
c.220+25185C>T |
- |
IntronicSNV |
- |
2/3 |
3-185445842-T-C |
IGF2BP2 |
c.240-29707A>G |
- |
IntronicSNV |
- |
2/15 |
10-60156595-A-G |
TFAM |
c.*1761A>G |
- |
3-UTRSNV |
7/7 |
- |
10-60156595-A-C |
TFAM |
c.*1761A>C |
- |
3-UTRSNV |
7/7 |
- |
16-57006378-A-G |
CETP |
c.750+383A>G |
- |
IntronicSNV |
- |
8/15 |
2-48033551-C-T |
MSH6 |
c.3802-40C>T |
- |
IntronicSNV |
- |
8/9 |
17-7578645-C-T |
TP53 |
c.376-91G>A |
- |
IntronicSNV |
- |
4/10 |
2-217059254-G-A |
XRCC5 |
c.2042-388G>A |
- |
IntronicSNV |
- |
18/20 |
9-110083927-G-A |
RAD23B |
c.682-337G>A |
- |
IntronicSNV |
- |
6/9 |
9-110083927-G-C |
RAD23B |
c.682-337G>C |
- |
IntronicSNV |
- |
6/9 |
13-31036642-C-G |
HMGB1 |
c.471+33G>C |
- |
IntronicSNV |
- |
4/4 |
15-99504437-C-T |
IGF1R |
c.*3766C>T |
- |
3-UTRSNV |
21/21 |
- |
2-48033551-C-G |
MSH6 |
c.3802-40C>G |
- |
IntronicSNV |
- |
8/9 |
13-41186501-G-A |
FOXO1 |
c.631-51504C>T |
- |
IntronicSNV |
- |
1/2 |
1-11856847-G-A |
MTHFR |
c.587-391C>T |
- |
IntronicSNV |
- |
4/11 |
13-110409336-A-C |
IRS2 |
c.4013-681T>G |
- |
IntronicSNV |
- |
1/1 |
14-20924434-T-C |
APEX1 |
c.246+174T>C |
- |
IntronicSNV |
- |
3/4 |
15-99464454-T-C |
IGF1R |
c.2202-923T>C |
- |
IntronicSNV |
- |
10/20 |
14-75506230-A-T |
MLH3 |
c.3570+384T>A |
- |
IntronicSNV |
- |
5/11 |
19-50370066-C-T |
PNKP |
c.151+245G>A |
- |
IntronicSNV |
- |
2/16 |
19-41845872-A-G |
TGFB1 |
c.860+1916T>C |
- |
IntronicSNV |
- |
5/6 |
3-142281612-A-G |
ATR |
c.632T>C |
p.Met211Thr |
Missense |
4/47 |
- |
13-33628138-T-G |
KL |
c.1054T>G |
p.Phe352Val |
Missense |
2/5 |
- |
4-39308187-G-A |
RFC1 |
c.1995+25C>T |
- |
IntronicSNV |
- |
14/24 |
19-45862449-A-G |
ERCC2 |
c.1238-1492T>C |
- |
IntronicSNV |
- |
12/22 |
16-57007353-C-T |
CETP |
c.861C>T |
p.Phe287Phe |
Synonymous |
9/16 |
- |
1-226549498-G-A |
PARP1 |
c.2963+172C>T |
- |
IntronicSNV |
- |
22/22 |
2-190708287-G-A |
PMS1 |
c.583-403G>A |
- |
IntronicSNV |
- |
5/12 |
15-99446632-G-C |
IGF1R |
c.1247+3782G>C |
- |
IntronicSNV |
- |
5/20 |
15-99465886-C-T |
IGF1R |
c.2485+226C>T |
- |
IntronicSNV |
- |
11/20 |
20-49189168-C-T |
PTPN1 |
c.136-1886C>T |
- |
IntronicSNV |
- |
3/8 |
17-59888418-G-T |
BRIP1 |
c.628-2300C>A |
- |
IntronicSNV |
- |
6/19 |
3-10134320-C-G |
FANCD2 |
c.3849+384C>G |
- |
IntronicSNV |
- |
38/43 |
19-48654553-G-T |
LIG1 |
c.510C>A |
p.Ala170Ala |
Synonymous |
7/28 |
- |
5-1255520-G-A |
TERT |
c.2850C>T |
p.His950His |
Synonymous |
13/15 |
- |
1-242042301-G-A |
EXO1 |
c.1765G>A |
p.Glu589Lys |
Missense |
11/14 |
- |
7-45952254-T-A |
IGFBP3 |
c.*1195A>T |
- |
3_prime_UTR_variant |
5/5 |
- |
14-75505486-A-G |
MLH3 |
c.3571-371T>C |
- |
IntronicSNV |
- |
5/11 |
5-82640477-T-G |
XRCC4 |
c.894-8473T>G |
- |
IntronicSNV |
- |
7/7 |
17-1795180-T-C |
RPA1 |
c.1605T>C |
p.Ser535Ser |
Synonymous |
15/17 |
- |
17-73661411-A-G |
RECQL5 |
c.131-159T>C |
- |
IntronicSNV |
- |
2/19 |
1-46742952-G-C |
RAD54L |
c.1870-537G>C |
- |
IntronicSNV |
- |
16/17 |
15-99496387-A-G |
IGF1R |
c.3723-3903A>G |
- |
IntronicSNV |
- |
20/20 |
15-89866954-A-G |
POLG |
c.2157+92T>C |
- |
IntronicSNV |
- |
12/22 |
16-69395212-G-A |
TERF2 |
c.1426+95C>T |
- |
IntronicSNV |
- |
8/9 |
5-60186618-C-T |
ERCC8 |
c.1041+98G>A |
- |
IntronicSNV |
- |
10/11 |
12-102864425-C-A |
IGF1 |
c.220+4996G>T |
- |
IntronicSNV |
- |
2/3 |
11-94188387-G-C |
MRE11 |
c.1563+1055C>G |
- |
IntronicSNV |
- |
14/19 |
13-110413817-G-A |
IRS2 |
c.4013-5162C>T |
- |
IntronicSNV |
- |
1/1 |
1-242016590-C-T |
EXO1 |
c.282-70C>T |
- |
IntronicSNV |
- |
3/13 |
16-67691982-C-T |
ACD |
c.1362G>A |
p.Glu454Glu |
Synonymous |
12/12 |
- |
19-50901893-G-A |
POLD1 |
c.1-216G>A |
- |
IntronicSNV |
- |
1/26 |
13-110424075-A-T |
IRS2 |
c.4012+10314T>A |
- |
IntronicSNV |
- |
1/1 |
7-31009576-G-T |
GHRHR |
c.363G>T |
p.Glu121Asp |
Missense |
4/13 |
- |
16-67691982-C-A |
ACD |
c.1362G>T |
p.Glu454Asp |
Missense |
12/12 |
- |
19-45865690-C-G |
ERCC2 |
c.1119-790G>C |
- |
IntronicSNV |
- |
11/22 |
19-45865690-C-T |
ERCC2 |
c.1119-790G>A |
- |
IntronicSNV |
- |
11/22 |
15-89869733-A-G |
POLG |
c.1712+110T>C |
- |
IntronicSNV |
- |
9/22 |
16-57017002-T-G |
CETP |
c.1322-236T>G |
- |
IntronicSNV |
- |
14/15 |
5-42470585-T-C |
GHR |
c.-12+46528T>C |
- |
intron_variant |
- |
1/9 |
11-218640-G-A |
SIRT3 |
c.753+192C>T |
- |
IntronicSNV |
- |
6/6 |
11-218640-G-C |
SIRT3 |
c.753+192C>G |
- |
IntronicSNV |
- |
6/6 |
12-133219989-A-T |
POLE |
c.4444+4T>A |
- |
IntronicSNV |
- |
34/48 |
2-217021602-C-A |
XRCC5 |
c.1671-3189C>A |
- |
IntronicSNV |
- |
14/20 |
20-5106287-T-C |
PCNA |
c.-117+859A>G |
- |
intron_variant |
- |
1/6 |
11-61561288-A-G |
FEN1 |
c.-22+788A>G |
- |
intron_variant |
- |
1/1 |
6-31778272-G-C |
HSPA1L |
c.1478C>G |
p.Thr493Arg |
Missense |
2/2 |
- |
8-73929721-T-C |
TERF1 |
c.416-3198T>C |
- |
IntronicSNV |
- |
2/9 |
15-91312823-T-C |
BLM |
c.2555+7T>C |
- |
IntronicSNV |
- |
12/21 |
8-11644821-C-T |
NEIL2 |
c.*1039C>T |
- |
3-UTRSNV |
5/5 |
- |
13-41202384-G-A |
FOXO1 |
c.630+37336C>T |
- |
IntronicSNV |
- |
1/2 |
6-31778272-G-A |
HSPA1L |
c.1478C>T |
p.Thr493Met |
Missense |
2/2 |
- |
19-7136609-C-G |
INSR |
c.2683-4281G>C |
- |
IntronicSNV |
- |
13/21 |
19-7166109-A-T |
INSR |
c.1861+56T>A |
- |
IntronicSNV |
- |
8/21 |
19-7166109-A-G |
INSR |
c.1861+56T>C |
- |
IntronicSNV |
- |
8/21 |
15-99482928-A-G |
IGF1R |
c.3457+339A>G |
- |
IntronicSNV |
- |
18/20 |
2-47689920-G-A |
MSH2 |
c.1387-250G>A |
- |
IntronicSNV |
- |
8/15 |
9-118965749-T-C |
PAPPA |
c.1479-3986T>C |
- |
IntronicSNV |
- |
2/21 |
9-118921327-G-C |
PAPPA |
c.415+4461G>C |
- |
IntronicSNV |
- |
1/21 |
16-69391714-C-G |
TERF2 |
c.1427-250G>C |
- |
IntronicSNV |
- |
8/9 |
12-21653119-A-C |
RECQL |
c.1-615T>G |
- |
IntronicSNV |
- |
1/14 |
13-33630055-C-T |
KL |
c.1599+603C>T |
- |
IntronicSNV |
- |
3/4 |
13-33628138-T-A |
KL |
c.1054T>A |
p.Phe352Ile |
Missense |
2/5 |
- |
16-67691668-A-G |
ACD |
c.1286T>C |
- |
missense_variant |
11/12 |
- |
10-50740143-A-G |
ERCC6 |
c.422+446T>C |
- |
IntronicSNV |
- |
2/20 |
3-10134320-C-T |
FANCD2 |
c.3849+384C>T |
- |
IntronicSNV |
- |
38/43 |
17-71167102-T-C |
SSTR2 |
c.*534T>C |
- |
3-UTRSNV |
2/2 |
- |
17-1799658-G-A |
RPA1 |
c.1747-707G>A |
- |
IntronicSNV |
- |
16/16 |
17-1799658-G-C |
RPA1 |
c.1747-707G>C |
- |
IntronicSNV |
- |
16/16 |
8-31024654-T-C |
WRN |
c.4099T>C |
p.Cys1367Arg |
Missense |
34/35 |
- |
9-118921327-G-T |
PAPPA |
c.415+4461G>T |
- |
IntronicSNV |
- |
1/21 |
12-109541171-T-C |
UNG |
c.623-67T>C |
- |
IntronicSNV |
- |
5/6 |
3-14211101-A-G |
XPC |
c.412+837T>C |
- |
IntronicSNV |
- |
3/15 |
1-242012606-T-A |
EXO1 |
c.-18+277T>A |
- |
intron_variant |
- |
1/13 |
6-160430656-A-C |
IGF2R |
c.414+490A>C |
- |
IntronicSNV |
- |
3/47 |
17-1758203-C-T |
RPA1 |
c.361+1720C>T |
- |
IntronicSNV |
- |
5/16 |
16-14028081-C-T |
ERCC4 |
c.1135C>T |
p.Pro379Ser |
Missense |
7/11 |
- |
12-1028315-G-A |
RAD52 |
c.544-2329C>T |
- |
IntronicSNV |
- |
7/11 |
17-71163788-C-A |
SSTR2 |
c.1-1671C>A |
- |
IntronicSNV |
- |
1/1 |
3-10085035-G-T |
FANCD2 |
c.990-133G>T |
- |
IntronicSNV |
- |
12/43 |
3-10085035-G-A |
FANCD2 |
c.990-133G>A |
- |
IntronicSNV |
- |
12/43 |
5-42719239-A-C |
GHR |
c.1630A>C |
p.Ile544Leu |
Missense |
10/10 |
- |
1-242048674-C-T |
EXO1 |
c.2270C>T |
p.Pro757Leu |
Missense |
13/14 |
- |
19-5705647-G-A |
LONP1 |
c.1367+136C>T |
- |
IntronicSNV |
- |
8/17 |
3-10328453-T-A |
GHRL |
c.269A>T |
p.Gln90Leu |
Missense |
5/6 |
- |
17-7588006-A-C |
TP53 |
c.-29+2689T>G |
- |
intron_variant |
- |
1/10 |
19-7125297-G-A |
INSR |
c.3255C>T |
p.His1085His |
Synonymous |
17/22 |
- |
5-177422536-G-C |
PROP1 |
c.109+290C>G |
- |
IntronicSNV |
- |
1/2 |
5-177422536-G-T |
PROP1 |
c.109+290C>A |
- |
IntronicSNV |
- |
1/2 |
6-160503845-A-T |
IGF2R |
c.5834-1137A>T |
- |
IntronicSNV |
- |
39/47 |
19-7134402-T-C |
INSR |
c.2683-2074A>G |
- |
IntronicSNV |
- |
13/21 |
12-21630146-A-T |
RECQL |
c.868-220T>A |
- |
IntronicSNV |
- |
7/14 |
19-5711217-T-C |
LONP1 |
c.870+565A>G |
- |
IntronicSNV |
- |
4/17 |
2-217514771-C-T |
IGFBP2 |
c.443-10509C>T |
- |
IntronicSNV |
- |
1/3 |
3-185405781-G-A |
IGF2BP2 |
c.678-802C>T |
- |
IntronicSNV |
- |
6/15 |
6-160403788-C-G |
IGF2R |
c.150-8428C>G |
- |
IntronicSNV |
- |
1/47 |
5-131953510-A-G |
RAD50 |
c.3165-252A>G |
- |
IntronicSNV |
- |
20/24 |
5-80066135-A-G |
MSH3 |
c.2253+1313A>G |
- |
IntronicSNV |
- |
15/23 |
12-1022679-A-G |
RAD52 |
c.1196-61T>C |
- |
IntronicSNV |
- |
11/11 |
15-91311017-C-T |
BLM |
c.2307+764C>T |
- |
IntronicSNV |
- |
10/21 |
15-91311017-C-G |
BLM |
c.2307+764C>G |
- |
IntronicSNV |
- |
10/21 |
15-91311017-C-A |
BLM |
c.2307+764C>A |
- |
IntronicSNV |
- |
10/21 |
2-47686686-A-T |
MSH2 |
c.1387-3484A>T |
- |
IntronicSNV |
- |
8/15 |
2-217524986-A-C |
IGFBP2 |
c.443-294A>C |
- |
IntronicSNV |
- |
1/3 |
3-37072627-A-C |
MLH1 |
c.1558+2204A>C |
- |
IntronicSNV |
- |
13/18 |
8-11636902-C-A |
NEIL2 |
c.139-205C>A |
- |
IntronicSNV |
- |
2/4 |
8-11636902-C-G |
NEIL2 |
c.139-205C>G |
- |
IntronicSNV |
- |
2/4 |
8-11636902-C-T |
NEIL2 |
c.139-205C>T |
- |
IntronicSNV |
- |
2/4 |
6-160505207-A-G |
IGF2R |
c.6059A>G |
p.Asn2020Ser |
Missense |
40/48 |
- |
2-227653948-C-A |
IRS1 |
c.*5778G>T |
- |
IntronicSNV |
- |
1/1 |
16-69395434-A-G |
TERF2 |
c.1341-42T>C |
- |
IntronicSNV |
- |
7/9 |
10-14951661-G-A |
DCLRE1C |
c.812-332C>T |
- |
IntronicSNV |
- |
12/12 |
9-118942439-C-A |
PAPPA |
c.416-6994C>A |
- |
IntronicSNV |
- |
1/21 |
9-118942439-C-T |
PAPPA |
c.416-6994C>T |
- |
IntronicSNV |
- |
1/21 |
8-48770702-C-A |
PRKDC |
c.6462+375G>T |
- |
intron_variant |
- |
49/85 |
11-61095347-A-T |
DDB1 |
c.550-982T>A |
- |
IntronicSNV |
- |
4/26 |
10-94225017-G-C |
IDE |
c.2488+416C>G |
- |
IntronicSNV |
- |
20/24 |
10-94225017-G-T |
IDE |
c.2488+416C>A |
- |
IntronicSNV |
- |
20/24 |
6-160432331-T-A |
IGF2R |
c.513+514T>A |
- |
IntronicSNV |
- |
4/47 |
13-103523312-C-G |
ERCC5 |
c.2679-1236C>G |
- |
IntronicSNV |
- |
12/14 |
12-21635232-G-A |
RECQL |
c.700+1078C>T |
- |
IntronicSNV |
- |
6/14 |
3-37053120-T-C |
MLH1 |
c.546-191T>C |
- |
IntronicSNV |
- |
6/18 |
16-56998572-G-C |
CETP |
c.233+1536G>C |
- |
IntronicSNV |
- |
2/15 |
4-39343940-C-A |
RFC1 |
c.331+25G>T |
- |
IntronicSNV |
- |
4/24 |
12-21630146-A-G |
RECQL |
c.868-220T>C |
- |
IntronicSNV |
- |
7/14 |
15-99248018-C-G |
IGF1R |
c.95-2773C>G |
- |
IntronicSNV |
- |
1/20 |
6-31783507-G-T |
HSPA1A |
c.1-27G>T |
- |
5-UTRSNV |
1/1 |
- |
15-99248018-C-T |
IGF1R |
c.95-2773C>T |
- |
IntronicSNV |
- |
1/20 |
15-99430948-T-C |
IGF1R |
c.641-3606T>C |
- |
IntronicSNV |
- |
2/20 |
2-217018422-G-C |
XRCC5 |
c.1670+5423G>C |
- |
IntronicSNV |
- |
14/20 |
2-217018422-G-A |
XRCC5 |
c.1670+5423G>A |
- |
IntronicSNV |
- |
14/20 |
19-48623224-G-A |
LIG1 |
c.2386-777C>T |
- |
IntronicSNV |
- |
24/27 |
17-71167541-G-A |
SSTR2 |
c.*973G>A |
- |
3-UTRSNV |
2/2 |
- |
8-48852225-C-T |
PRKDC |
c.999G>A |
p.Met333Ile |
Missense |
11/86 |
- |
9-119038558-A-G |
PAPPA |
c.2953+4863A>G |
- |
IntronicSNV |
- |
9/21 |
16-69400795-G-C |
TERF2 |
c.1255C>G |
p.Leu419Val |
Missense |
7/10 |
- |
6-160398330-C-T |
IGF2R |
c.149+7903C>T |
- |
IntronicSNV |
- |
1/47 |
2-47694037-T-C |
MSH2 |
c.1661+90T>C |
- |
IntronicSNV |
- |
10/15 |
1-226552068-G-A |
PARP1 |
c.2659-297C>T |
- |
IntronicSNV |
- |
19/22 |
3-37044489-A-T |
MLH1 |
c.307-1403A>T |
- |
IntronicSNV |
- |
3/18 |
19-7179320-G-T |
INSR |
c.975-4578C>A |
- |
IntronicSNV |
- |
3/21 |
9-110084261-C-T |
RAD23B |
c.682-3C>T |
- |
IntronicSNV |
- |
6/9 |
15-99500064-C-G |
IGF1R |
c.3723-226C>G |
- |
IntronicSNV |
- |
20/20 |
20-5099636-G-A |
PCNA |
c.222-124C>T |
- |
IntronicSNV |
- |
2/6 |
10-14908571-C-T |
HSPA14 |
c.994-511C>T |
- |
IntronicSNV |
- |
10/13 |
15-99236276-G-A |
IGF1R |
c.95-14515G>A |
- |
IntronicSNV |
- |
1/20 |
6-160478789-A-G |
IGF2R |
c.2797-266A>G |
- |
IntronicSNV |
- |
20/47 |
5-42553879-G-A |
GHR |
c.1-12098G>A |
- |
IntronicSNV |
- |
1/9 |
11-216056-G-A |
SIRT3 |
c.*642C>T |
- |
3-UTRSNV |
7/7 |
- |
17-61564052-A-G |
ACE |
c.2193A>G |
p.Ala731Ala |
Synonymous |
14/25 |
- |
11-219538-A-C |
SIRT3 |
c.544-497T>G |
- |
IntronicSNV |
- |
5/6 |
11-219538-A-G |
SIRT3 |
c.544-497T>C |
- |
IntronicSNV |
- |
5/6 |
10-50670257-A-T |
ERCC6 |
c.3779-655T>A |
- |
IntronicSNV |
- |
18/20 |
10-50670257-A-C |
ERCC6 |
c.3779-655T>G |
- |
IntronicSNV |
- |
18/20 |
12-21637225-G-T |
RECQL |
c.502-717C>A |
- |
IntronicSNV |
- |
5/14 |
15-99443139-G-A |
IGF1R |
c.1247+289G>A |
- |
IntronicSNV |
- |
5/20 |
19-48630763-G-C |
LIG1 |
c.1933-158C>G |
- |
IntronicSNV |
- |
20/27 |
19-45856926-C-G |
ERCC2 |
c.1666-334G>C |
- |
IntronicSNV |
- |
17/22 |
3-14202799-A-G |
XPC |
c.901-1469T>C |
- |
IntronicSNV |
- |
7/15 |
11-2158179-T-C |
IGF2 |
c.-7+1280A>G |
- |
intron_variant |
- |
1/3 |
7-31016018-G-A |
GHRHR |
c.975-26G>A |
- |
IntronicSNV |
- |
10/12 |
7-31016018-G-C |
GHRHR |
c.975-26G>C |
- |
IntronicSNV |
- |
10/12 |
5-82401306-A-G |
XRCC4 |
c.139+429A>G |
- |
IntronicSNV |
- |
2/7 |
5-82401306-A-T |
XRCC4 |
c.139+429A>T |
- |
IntronicSNV |
- |
2/7 |
19-45862515-C-A |
ERCC2 |
c.1238-1558G>T |
- |
IntronicSNV |
- |
12/22 |
13-41146301-T-C |
FOXO1 |
c.631-11304A>G |
- |
IntronicSNV |
- |
1/2 |
12-102862979-C-A |
IGF1 |
c.220+6442G>T |
- |
IntronicSNV |
- |
2/3 |
12-102862979-C-T |
IGF1 |
c.220+6442G>A |
- |
IntronicSNV |
- |
2/3 |
15-99457815-A-G |
IGF1R |
c.1828+1304A>G |
- |
IntronicSNV |
- |
8/20 |
6-160461334-A-G |
IGF2R |
c.1316-258A>G |
- |
IntronicSNV |
- |
10/47 |
6-160420506-C-T |
IGF2R |
c.289+8151C>T |
- |
IntronicSNV |
- |
2/47 |
15-99455270-C-A |
IGF1R |
c.1589+600C>A |
- |
IntronicSNV |
- |
7/20 |
19-45862449-A-T |
ERCC2 |
c.1238-1492T>A |
- |
IntronicSNV |
- |
12/22 |
12-21634497-G-C |
RECQL |
c.700+1813C>G |
- |
IntronicSNV |
- |
6/14 |
14-105258892-C-T |
AKT1 |
c.46+43G>A |
- |
IntronicSNV |
- |
2/13 |
5-79966398-A-T |
MSH3 |
c.792+270A>T |
- |
IntronicSNV |
- |
4/23 |
15-99471866-G-A |
IGF1R |
c.2783-921G>A |
- |
IntronicSNV |
- |
13/20 |
10-14908241-A-T |
HSPA14 |
c.994-841A>T |
- |
IntronicSNV |
- |
10/13 |
17-59817082-C-G |
BRIP1 |
c.2379+3292G>C |
- |
IntronicSNV |
- |
16/19 |
16-89826723-G-A |
FANCA |
c.2853-1610C>T |
- |
IntronicSNV |
- |
29/42 |
17-59767501-G-A |
BRIP1 |
c.2575+3290C>T |
- |
IntronicSNV |
- |
18/19 |
19-7269321-A-G |
INSR |
c.101-1414T>C |
- |
IntronicSNV |
- |
1/21 |
12-102809630-G-C |
IGF1 |
c.402+3657C>G |
- |
IntronicSNV |
- |
3/3 |
1-43154492-G-A |
YBX1 |
c.231-4669G>A |
- |
IntronicSNV |
- |
2/7 |
1-43154492-G-T |
YBX1 |
c.231-4669G>T |
- |
IntronicSNV |
- |
2/7 |
17-1760379-A-G |
RPA1 |
c.361+3896A>G |
- |
IntronicSNV |
- |
5/16 |
10-70960448-A-T |
SUPV3L1 |
c.1518+193A>T |
- |
IntronicSNV |
- |
11/14 |
10-94311815-G-A |
IDE |
c.99-14508C>T |
- |
IntronicSNV |
- |
1/24 |
20-49198327-G-A |
PTPN1 |
c.1065+330G>A |
- |
IntronicSNV |
- |
8/8 |
1-242030151-A-G |
EXO1 |
c.1061A>G |
p.His354Arg |
Missense |
9/14 |
- |
5-82563061-A-T |
XRCC4 |
c.893+8565A>T |
- |
IntronicSNV |
- |
7/7 |
15-99471507-T-G |
IGF1R |
c.2783-1280T>G |
- |
IntronicSNV |
- |
13/20 |
10-89647154-G-A |
PTEN |
c.80-6628G>A |
- |
IntronicSNV |
- |
1/8 |
7-124526148-G-A |
POT1 |
c.-139+6172C>T |
- |
intron_variant |
- |
6/17 |
17-1792174-G-A |
RPA1 |
c.1551+29G>A |
- |
IntronicSNV |
- |
14/16 |
5-42607461-G-C |
GHR |
c.71-21679G>C |
- |
IntronicSNV |
- |
2/9 |
5-42607461-G-T |
GHR |
c.71-21679G>T |
- |
IntronicSNV |
- |
2/9 |
2-190707034-T-C |
PMS1 |
c.583-1656T>C |
- |
IntronicSNV |
- |
5/12 |
11-108215397-T-G |
ATM |
c.8419-1073T>G |
- |
IntronicSNV |
- |
57/62 |
19-50921272-T-C |
POLD1 |
c.*68T>C |
- |
3-UTRSNV |
27/27 |
- |
9-110055879-A-G |
RAD23B |
c.67-6543A>G |
- |
IntronicSNV |
- |
1/9 |
13-33622817-G-A |
KL |
c.820-5087G>A |
- |
IntronicSNV |
- |
1/4 |
10-94262359-T-A |
IDE |
c.1430+2192A>T |
- |
IntronicSNV |
- |
11/24 |
17-7580052-C-T |
TP53 |
c.1-140G>A |
- |
IntronicSNV |
- |
1/10 |
6-26094367-G-A |
HFE |
c.1007-47G>A |
- |
IntronicSNV |
- |
5/5 |
6-26094367-G-T |
HFE |
c.1007-47G>T |
- |
IntronicSNV |
- |
5/5 |
9-119096189-C-T |
PAPPA |
c.3398-951C>T |
- |
IntronicSNV |
- |
12/21 |
7-31017103-G-A |
GHRHR |
c.1146+166G>A |
- |
IntronicSNV |
- |
12/12 |
15-91355485-G-A |
BLM |
c.4076+849G>A |
- |
IntronicSNV |
- |
21/21 |
19-41845801-T-C |
TGFB1 |
c.860+1987A>G |
- |
IntronicSNV |
- |
5/6 |
1-46726057-A-C |
RAD54L |
c.408-157A>C |
- |
IntronicSNV |
- |
5/17 |
17-33322322-A-G |
LIG3 |
c.1612-761A>G |
- |
IntronicSNV |
- |
9/19 |
10-89620210-T-C |
KLLN |
c.*1498A>G |
- |
3-UTRSNV |
1/1 |
- |
17-1782952-A-G |
RPA1 |
c.1051A>G |
p.Thr351Ala |
Missense |
11/17 |
- |
11-47237359-C-T |
DDB2 |
c.128-528C>T |
- |
IntronicSNV |
- |
1/9 |
3-10142452-A-G |
FANCD2 |
c.4282-420A>G |
- |
IntronicSNV |
- |
43/43 |
13-110409905-T-C |
IRS2 |
c.4013-1250A>G |
- |
IntronicSNV |
- |
1/1 |
15-91351102-C-A |
BLM |
c.3752-1265C>A |
- |
IntronicSNV |
- |
19/21 |
5-42613898-C-T |
GHR |
c.71-15242C>T |
- |
IntronicSNV |
- |
2/9 |
6-160435569-T-A |
IGF2R |
c.513+3752T>A |
- |
IntronicSNV |
- |
4/47 |
6-160435569-T-G |
IGF2R |
c.513+3752T>G |
- |
IntronicSNV |
- |
4/47 |
5-82605210-A-G |
XRCC4 |
c.894-43740A>G |
- |
IntronicSNV |
- |
7/7 |
1-242027786-A-G |
EXO1 |
c.1042-2346A>G |
- |
IntronicSNV |
- |
8/13 |
5-80169672-C-T |
MSH3 |
c.3302+566C>T |
- |
IntronicSNV |
- |
23/23 |
5-82605210-A-T |
XRCC4 |
c.894-43740A>T |
- |
IntronicSNV |
- |
7/7 |
10-60151026-A-G |
TFAM |
c.537+406A>G |
- |
IntronicSNV |
- |
5/6 |
5-82589432-A-G |
XRCC4 |
c.893+34936A>G |
- |
IntronicSNV |
- |
7/7 |
15-99465285-C-T |
IGF1R |
c.2202-92C>T |
- |
IntronicSNV |
- |
10/20 |
11-108194893-A-G |
ATM |
c.6573-1144A>G |
- |
IntronicSNV |
- |
45/62 |
19-45920796-C-T |
ERCC1 |
c.526-641G>A |
- |
IntronicSNV |
- |
5/9 |
5-42555931-G-A |
GHR |
c.1-10046G>A |
- |
IntronicSNV |
- |
1/9 |
2-217033294-G-T |
XRCC5 |
c.1834+6523G>T |
- |
IntronicSNV |
- |
16/20 |
2-48028465-C-T |
MSH6 |
c.3172+171C>T |
- |
IntronicSNV |
- |
4/9 |
2-217033294-G-A |
XRCC5 |
c.1834+6523G>A |
- |
IntronicSNV |
- |
16/20 |
12-109537564-G-T |
UNG |
c.435+475G>T |
- |
IntronicSNV |
- |
3/6 |
12-109542392-T-C |
UNG |
c.801+976T>C |
- |
IntronicSNV |
- |
6/6 |
2-48012846-C-T |
MSH6 |
c.260+2214C>T |
- |
IntronicSNV |
- |
1/9 |
11-2152541-C-A |
IGF2 |
c.*1676G>T |
- |
3-UTRSNV |
4/4 |
- |
11-2152541-C-G |
IGF2 |
c.*1676G>C |
- |
3-UTRSNV |
4/4 |
- |
11-2152541-C-T |
IGF2 |
c.*1676G>A |
- |
3-UTRSNV |
4/4 |
- |
3-10142949-C-T |
FANCD2 |
c.*3C>T |
- |
3-UTRSNV |
44/44 |
- |
5-60179360-C-A |
ERCC8 |
c.1122+3907G>T |
- |
IntronicSNV |
- |
11/11 |
2-227656435-G-T |
IRS1 |
c.*3291C>A |
- |
IntronicSNV |
2/2 |
- |
19-48643124-T-C |
LIG1 |
c.1087+104A>G |
- |
IntronicSNV |
- |
12/27 |
15-99222682-G-A |
IGF1R |
c.95-28109G>A |
- |
IntronicSNV |
- |
1/20 |
2-47686686-A-G |
MSH2 |
c.1387-3484A>G |
- |
IntronicSNV |
- |
8/15 |
16-75686146-G-T |
TERF2IP |
c.671-2025G>T |
- |
IntronicSNV |
- |
1/2 |
10-94290484-A-C |
IDE |
c.661+1021T>G |
- |
IntronicSNV |
- |
4/24 |
16-2097158-G-A |
NTHL1 |
c.115+552C>T |
- |
intron_variant |
- |
1/5 |
8-30977446-T-A |
WRN |
c.2449-313T>A |
- |
IntronicSNV |
- |
20/34 |
2-128038544-T-C |
ERCC3 |
c.1343-337A>G |
- |
IntronicSNV |
- |
8/14 |
12-21638570-C-T |
RECQL |
c.501+843G>A |
- |
IntronicSNV |
- |
5/14 |
12-21638570-C-A |
RECQL |
c.501+843G>T |
- |
IntronicSNV |
- |
5/14 |
17-1756637-G-A |
RPA1 |
c.361+154G>A |
- |
IntronicSNV |
- |
5/16 |
2-47656801-G-T |
MSH2 |
c.1077-80G>T |
- |
IntronicSNV |
- |
6/15 |
2-47656801-G-A |
MSH2 |
c.1077-80G>A |
- |
IntronicSNV |
- |
6/15 |
12-102867667-G-A |
IGF1 |
c.220+1754C>T |
- |
IntronicSNV |
- |
2/3 |
15-99481832-C-T |
IGF1R |
c.3298-598C>T |
- |
IntronicSNV |
- |
17/20 |
10-94229912-C-T |
IDE |
c.2208+99G>A |
- |
IntronicSNV |
- |
18/24 |
10-14882340-A-T |
HSPA14 |
c.221+184A>T |
- |
IntronicSNV |
- |
3/13 |
9-110054068-C-A |
RAD23B |
c.66+8092C>A |
- |
IntronicSNV |
- |
1/9 |
8-30964211-C-T |
WRN |
c.2089-4920C>T |
- |
IntronicSNV |
- |
18/34 |
17-61556298-C-G |
ACE |
c.418-70C>G |
- |
IntronicSNV |
- |
2/24 |
13-41137804-A-T |
FOXO1 |
c.631-2807T>A |
- |
IntronicSNV |
- |
1/2 |
13-41137804-A-C |
FOXO1 |
c.631-2807T>G |
- |
IntronicSNV |
- |
1/2 |
7-31011485-A-G |
GHRHR |
c.465-93A>G |
- |
IntronicSNV |
- |
5/12 |
3-10332125-G-A |
GHRL |
c.1-261C>T |
- |
IntronicSNV |
- |
1/5 |
5-1267202-C-G |
TERT |
c.2583-552G>C |
- |
IntronicSNV |
- |
9/14 |
3-172166033-G-A |
GHSR |
c.171C>T |
p.Gly57Gly |
Synonymous |
1/1 |
- |
3-172166033-G-T |
GHSR |
c.171C>A |
p.Gly57Gly |
Synonymous |
1/1 |
- |
10-94225297-A-G |
IDE |
c.2488+136T>C |
- |
IntronicSNV |
- |
20/24 |
10-14884509-G-A |
HSPA14 |
c.221+2353G>A |
- |
IntronicSNV |
- |
3/13 |
8-11629119-T-C |
NEIL2 |
c.138+25T>C |
- |
IntronicSNV |
- |
2/4 |
6-160430656-A-T |
IGF2R |
c.414+490A>T |
- |
IntronicSNV |
- |
3/47 |
2-216981186-G-A |
XRCC5 |
c.136-196G>A |
- |
IntronicSNV |
- |
2/20 |
16-69419031-T-A |
TERF2 |
c.475+263A>T |
- |
IntronicSNV |
- |
2/9 |
8-145741702-C-G |
RECQL4 |
c.801G>C |
p.Glu267Asp |
Missense |
5/22 |
- |
5-60239698-C-A |
ERCC8 |
c.77+1061G>T |
- |
IntronicSNV |
- |
1/11 |
15-89864763-G-T |
POLG |
c.2598+204C>A |
- |
IntronicSNV |
- |
16/22 |
13-103527230-G-A |
ERCC5 |
c.2965-427G>A |
- |
IntronicSNV |
- |
14/14 |
10-14980681-T-A |
DCLRE1C |
c.17+1128A>T |
- |
IntronicSNV |
- |
4/12 |
11-2181395-C-T |
INS |
c.188-168G>A |
- |
IntronicSNV |
- |
2/2 |
11-2181395-C-G |
INS |
c.188-168G>C |
- |
IntronicSNV |
- |
2/2 |
15-99254554-C-A |
IGF1R |
c.640+3218C>A |
- |
IntronicSNV |
- |
2/20 |
12-1047466-T-A |
RAD52 |
c.1-5242A>T |
- |
IntronicSNV |
- |
1/11 |
19-7273492-G-A |
INSR |
c.101-5585C>T |
- |
IntronicSNV |
- |
1/21 |
11-2156213-G-A |
IGF2 |
c.157+384C>T |
- |
IntronicSNV |
- |
2/3 |
12-133202816-C-T |
POLE |
c.6418G>A |
p.Glu2140Lys |
Missense |
46/49 |
- |
12-133202816-C-G |
POLE |
c.6418G>C |
p.Glu2140Gln |
Missense |
46/49 |
- |
20-49185649-T-C |
PTPN1 |
c.135+634T>C |
- |
IntronicSNV |
- |
3/8 |
15-99488081-G-A |
IGF1R |
c.3587+1800G>A |
- |
IntronicSNV |
- |
19/20 |
15-99488081-G-C |
IGF1R |
c.3587+1800G>C |
- |
IntronicSNV |
- |
19/20 |
3-142221956-A-T |
ATR |
c.5288+248T>A |
- |
IntronicSNV |
- |
30/46 |
3-142221956-A-G |
ATR |
c.5288+248T>C |
- |
IntronicSNV |
- |
30/46 |
9-110084704-A-G |
RAD23B |
c.817+305A>G |
- |
IntronicSNV |
- |
7/9 |
13-103498375-T-C |
ERCC5 |
c.1-242T>C |
- |
5-UTRSNV |
1/15 |
- |
13-103494182-G-A |
BIVM-ERCC5 |
c.1450+2029G>A |
- |
IntronicSNV |
- |
9/22 |
1-226562112-C-T |
PARP1 |
c.1942-57G>A |
- |
IntronicSNV |
- |
13/22 |
1-226562112-C-G |
PARP1 |
c.1942-57G>C |
- |
IntronicSNV |
- |
13/22 |
10-14975171-T-C |
DCLRE1C |
c.334-217A>G |
- |
IntronicSNV |
- |
7/12 |
10-14962864-A-G |
DCLRE1C |
c.717-1033T>C |
- |
IntronicSNV |
- |
11/12 |
2-47693959-G-A |
MSH2 |
c.1661+12G>A |
- |
IntronicSNV |
- |
10/15 |
19-48657620-G-A |
LIG1 |
c.371-396C>T |
- |
IntronicSNV |
- |
5/27 |
19-48657620-G-C |
LIG1 |
c.371-396C>G |
- |
IntronicSNV |
- |
5/27 |
19-7134266-C-T |
INSR |
c.2683-1938G>A |
- |
IntronicSNV |
- |
13/21 |
19-7134266-C-G |
INSR |
c.2683-1938G>C |
- |
IntronicSNV |
- |
13/21 |
13-110423795-C-T |
IRS2 |
c.4012+10594G>A |
- |
IntronicSNV |
- |
1/1 |
3-185475706-A-T |
IGF2BP2 |
c.240-59571T>A |
- |
IntronicSNV |
- |
2/15 |
12-102796522-G-C |
IGF1 |
c.403-178C>G |
- |
IntronicSNV |
- |
3/3 |
1-11867044-T-C |
CLCN6 |
c.88-144T>C |
- |
IntronicSNV |
- |
1/22 |
3-185475706-A-G |
IGF2BP2 |
c.240-59571T>C |
- |
IntronicSNV |
- |
2/15 |
12-133235332-T-G |
POLE |
c.3275+549A>C |
- |
IntronicSNV |
- |
26/48 |
19-629303-C-T |
POLRMT |
c.822+237G>A |
- |
IntronicSNV |
- |
3/20 |
8-30977446-T-C |
WRN |
c.2449-313T>C |
- |
IntronicSNV |
- |
20/34 |
19-45409167-C-T |
APOE |
c.-24+69C>T |
- |
intron_variant |
- |
1/3 |
7-6035507-C-T |
PMS2 |
c.804-243G>A |
- |
IntronicSNV |
- |
7/14 |
2-217036672-G-A |
XRCC5 |
c.1834+9901G>A |
- |
IntronicSNV |
- |
16/20 |
2-190705853-G-T |
PMS1 |
c.583-2837G>T |
- |
IntronicSNV |
- |
5/12 |
1-43158430-C-G |
YBX1 |
c.231-731C>G |
- |
IntronicSNV |
- |
2/7 |
1-43158430-C-A |
YBX1 |
c.231-731C>A |
- |
IntronicSNV |
- |
2/7 |
1-43158430-C-T |
YBX1 |
c.231-731C>T |
- |
IntronicSNV |
- |
2/7 |
11-223733-T-A |
SIRT3 |
c.543+345A>T |
- |
IntronicSNV |
- |
5/6 |
19-45856100-G-A |
ERCC2 |
c.1832-26C>T |
- |
IntronicSNV |
- |
19/22 |
19-45856100-G-C |
ERCC2 |
c.1832-26C>G |
- |
IntronicSNV |
- |
19/22 |
10-89682833-G-T |
PTEN |
c.165-2437G>T |
- |
IntronicSNV |
- |
2/8 |
10-89682833-G-A |
PTEN |
c.165-2437G>A |
- |
IntronicSNV |
- |
2/8 |
16-89841552-T-G |
FANCA |
c.1900+598A>C |
- |
IntronicSNV |
- |
21/42 |
8-30966273-C-T |
WRN |
c.2089-2858C>T |
- |
IntronicSNV |
- |
18/34 |
12-21654407-G-A |
RECQL |
c.-349C>T |
- |
5_prime_UTR_variant |
1/15 |
- |
2-227651446-C-T |
IRS1 |
c.*8280G>A |
- |
IntronicSNV |
- |
1/1 |
5-82521618-C-T |
XRCC4 |
c.745+20878C>T |
- |
IntronicSNV |
- |
6/7 |
17-59876352-C-T |
BRIP1 |
c.1340+109G>A |
- |
IntronicSNV |
- |
9/19 |
10-50732280-C-T |
ERCC6 |
c.1196G>A |
p.Gly399Asp |
Missense |
5/21 |
- |
5-80149702-C-T |
MSH3 |
c.2814-247C>T |
- |
IntronicSNV |
- |
20/23 |
2-217498839-T-G |
IGFBP2 |
c.442+151T>G |
- |
IntronicSNV |
- |
1/3 |
1-46722389-A-G |
RAD54L |
c.211-1969A>G |
- |
IntronicSNV |
- |
3/17 |
17-61559923-C-T |
ACE |
c.1215C>T |
p.Pro405Pro |
Synonymous |
8/25 |
- |
8-48816716-G-A |
PRKDC |
c.3042+713C>T |
- |
IntronicSNV |
- |
26/85 |
3-14188762-G-C |
XPC |
c.2604+28C>G |
- |
IntronicSNV |
- |
15/15 |
2-217031328-T-C |
XRCC5 |
c.1834+4557T>C |
- |
IntronicSNV |
- |
16/20 |
11-94155577-G-A |
MRE11 |
c.2071-2230C>T |
- |
IntronicSNV |
- |
19/19 |
11-108143182-C-T |
ATM |
c.3078-77C>T |
- |
IntronicSNV |
- |
20/62 |
10-89682833-G-C |
PTEN |
c.165-2437G>C |
- |
IntronicSNV |
- |
2/8 |
13-41196877-T-C |
FOXO1 |
c.630+42843A>G |
- |
IntronicSNV |
- |
1/2 |
19-7287748-C-G |
INSR |
c.100+6055G>C |
- |
IntronicSNV |
- |
1/21 |
17-71165318-C-G |
SSTR2 |
c.1-141C>G |
- |
IntronicSNV |
- |
1/1 |
11-108143182-C-A |
ATM |
c.3078-77C>A |
- |
IntronicSNV |
- |
20/62 |
5-82554138-G-A |
XRCC4 |
c.746-211G>A |
- |
IntronicSNV |
- |
6/7 |
19-50897607-A-G |
POLD1 |
c.1-4502A>G |
- |
IntronicSNV |
- |
1/26 |
17-71165318-C-T |
SSTR2 |
c.1-141C>T |
- |
IntronicSNV |
- |
1/1 |
5-80001785-A-G |
MSH3 |
c.1341-19487A>G |
- |
IntronicSNV |
- |
8/23 |
3-14211101-A-C |
XPC |
c.412+837T>G |
- |
IntronicSNV |
- |
3/15 |
17-1754380-A-T |
RPA1 |
c.273-2015A>T |
- |
IntronicSNV |
- |
4/16 |
3-185511488-T-A |
IGF2BP2 |
c.239+29453A>T |
- |
IntronicSNV |
- |
2/15 |
10-94224165-C-T |
IDE |
c.2489-405G>A |
- |
IntronicSNV |
- |
20/24 |
3-14199887-G-A |
XPC |
c.1496C>T |
p.Ala499Val |
Missense |
9/16 |
- |
15-40987528-G-C |
RAD51 |
c.-98G>C |
- |
5_prime_UTR_variant |
1/10 |
- |
9-119026962-T-C |
PAPPA |
c.2733-1174T>C |
- |
IntronicSNV |
- |
7/21 |
14-105246686-G-A |
AKT1 |
c.47-133C>T |
- |
IntronicSNV |
- |
2/13 |
6-160395632-A-G |
IGF2R |
c.149+5205A>G |
- |
IntronicSNV |
- |
1/47 |
8-48815878-C-T |
PRKDC |
c.3043-523G>A |
- |
IntronicSNV |
- |
26/85 |
11-108234836-A-T |
ATM |
c.8851-973A>T |
- |
IntronicSNV |
- |
61/62 |
19-7112593-G-A |
INSR |
c.*4474C>T |
- |
3-UTRSNV |
22/22 |
- |
3-10328782-G-A |
GHRL |
c.226-286C>T |
- |
IntronicSNV |
- |
4/5 |
3-10328782-G-C |
GHRL |
c.226-286C>G |
- |
IntronicSNV |
- |
4/5 |
6-160437347-G-A |
IGF2R |
c.513+5530G>A |
- |
IntronicSNV |
- |
4/47 |
6-160437347-G-C |
IGF2R |
c.513+5530G>C |
- |
IntronicSNV |
- |
4/47 |
4-39297200-G-A |
RFC1 |
c.2954+34C>T |
- |
IntronicSNV |
- |
22/24 |
3-185478957-T-G |
IGF2BP2 |
c.239+61984A>C |
- |
IntronicSNV |
- |
2/15 |
11-94170674-C-T |
MRE11 |
c.1868-273G>A |
- |
IntronicSNV |
- |
16/19 |
19-7188979-A-G |
INSR |
c.653-4331T>C |
- |
IntronicSNV |
- |
2/21 |
9-110057862-A-G |
RAD23B |
c.67-4560A>G |
- |
IntronicSNV |
- |
1/9 |
11-94221205-A-G |
MRE11 |
c.154-1955T>C |
- |
IntronicSNV |
- |
3/19 |
11-108234836-A-C |
ATM |
c.8851-973A>C |
- |
IntronicSNV |
- |
61/62 |
19-44060001-A-G |
XRCC1 |
c.256-1045T>C |
- |
IntronicSNV |
- |
3/16 |
19-44072880-G-C |
XRCC1 |
c.144+6182C>G |
- |
IntronicSNV |
- |
2/16 |
17-61565025-G-A |
ACE |
c.2305+591G>A |
- |
IntronicSNV |
- |
15/24 |
2-47646968-C-T |
MSH2 |
c.1076+3400C>T |
- |
IntronicSNV |
- |
6/15 |
12-102844236-G-C |
IGF1 |
c.220+25185C>G |
- |
IntronicSNV |
- |
2/3 |
10-89721094-C-T |
PTEN |
c.1026+219C>T |
- |
IntronicSNV |
- |
8/8 |
8-48858933-A-C |
PRKDC |
c.722-2344T>G |
- |
IntronicSNV |
- |
7/85 |
19-45922323-G-A |
ERCC1 |
c.525+33C>T |
- |
IntronicSNV |
- |
5/9 |
19-45922323-G-T |
ERCC1 |
c.525+33C>A |
- |
IntronicSNV |
- |
5/9 |
3-14207806-G-A |
XPC |
c.622-721C>T |
- |
IntronicSNV |
- |
5/15 |
10-14995725-C-T |
DCLRE1C |
c.-181+176G>A |
- |
intron_variant |
- |
1/12 |
5-82433781-G-A |
XRCC4 |
c.315+26759G>A |
- |
IntronicSNV |
- |
3/7 |
19-45857235-C-T |
ERCC2 |
c.1666-643G>A |
- |
IntronicSNV |
- |
17/22 |
16-14038174-G-A |
ERCC4 |
c.1905-406G>A |
- |
IntronicSNV |
- |
9/10 |
2-227651446-C-A |
IRS1 |
c.*8280G>T |
- |
IntronicSNV |
- |
1/1 |
2-190706092-A-C |
PMS1 |
c.583-2598A>C |
- |
IntronicSNV |
- |
5/12 |
12-102793569-C-T |
IGF1 |
c.*2716G>A |
- |
3-UTRSNV |
4/4 |
- |
2-217022813-C-T |
XRCC5 |
c.1671-1978C>T |
- |
IntronicSNV |
- |
14/20 |
9-100444951-C-G |
XPA |
c.673+2254G>C |
- |
IntronicSNV |
- |
5/5 |
15-99449683-T-C |
IGF1R |
c.1248-2231T>C |
- |
IntronicSNV |
- |
5/20 |
8-30918098-A-G |
WRN |
c.209+1317A>G |
- |
IntronicSNV |
- |
3/34 |
7-124549573-T-C |
POT1 |
c.-416+6055A>G |
- |
intron_variant |
- |
3/17 |
19-7169276-G-T |
INSR |
c.1484-1171C>A |
- |
IntronicSNV |
- |
6/21 |
16-57016092-G-A |
CETP |
c.1264G>A |
p.Val422Ile |
Missense |
14/16 |
- |
6-160428561-T-A |
IGF2R |
c.290-1481T>A |
- |
IntronicSNV |
- |
2/47 |
15-99245384-G-A |
IGF1R |
c.95-5407G>A |
- |
IntronicSNV |
- |
1/20 |
15-99245384-G-T |
IGF1R |
c.95-5407G>T |
- |
IntronicSNV |
- |
1/20 |
16-89862202-C-G |
FANCA |
c.1006+112G>C |
- |
IntronicSNV |
- |
11/42 |
16-89862202-C-T |
FANCA |
c.1006+112G>A |
- |
IntronicSNV |
- |
11/42 |
2-48030838-A-T |
MSH6 |
c.3438+14A>T |
- |
IntronicSNV |
- |
5/9 |
13-33617174-T-G |
KL |
c.820-10730T>G |
- |
IntronicSNV |
- |
1/4 |
7-31006942-A-G |
GHRHR |
c.58-1507A>G |
- |
IntronicSNV |
- |
1/12 |
10-50678369-T-C |
ERCC6 |
c.3637A>G |
p.Arg1213Gly |
Missense |
18/21 |
- |
11-47258853-C-T |
DDB2 |
c.1024-535C>T |
- |
IntronicSNV |
- |
7/9 |
13-41138389-C-T |
FOXO1 |
c.631-3392G>A |
- |
IntronicSNV |
- |
1/2 |
8-73925412-G-A |
TERF1 |
c.320-718G>A |
- |
IntronicSNV |
- |
1/9 |
16-69397393-T-C |
TERF2 |
c.1341-2001A>G |
- |
IntronicSNV |
- |
7/9 |
15-99499702-C-T |
IGF1R |
c.3723-588C>T |
- |
IntronicSNV |
- |
20/20 |
17-1801144-C-T |
RPA1 |
c.*675C>T |
- |
3-UTRSNV |
17/17 |
- |
15-99499930-C-T |
IGF1R |
c.3723-360C>T |
- |
IntronicSNV |
- |
20/20 |
3-142168331-C-T |
ATR |
c.7875G>A |
p.Gln2625Gln |
Synonymous |
47/47 |
- |
12-21625497-A-G |
RECQL |
c.1448-916T>C |
- |
IntronicSNV |
- |
12/14 |
7-6036515-C-A |
PMS2 |
c.803+442G>T |
- |
IntronicSNV |
- |
7/14 |
14-20924167-G-C |
APEX1 |
c.153G>C |
p.Gln51His |
Missense |
3/5 |
- |
3-142210801-G-T |
ATR |
c.6078+1173C>A |
- |
IntronicSNV |
- |
35/46 |
2-217528951-T-A |
IGFBP2 |
c.*124T>A |
- |
3-UTRSNV |
4/4 |
- |
15-65117647-T-C |
PIF1 |
c.-20+145A>G |
- |
intron_variant |
- |
1/12 |
5-82508410-G-A |
XRCC4 |
c.745+7670G>A |
- |
IntronicSNV |
- |
6/7 |
15-41008342-C-T |
RAD51 |
c.436-2661C>T |
- |
IntronicSNV |
- |
5/9 |
16-89866043-T-C |
FANCA |
c.796A>G |
p.Thr266Ala |
Missense |
9/43 |
- |
19-41851509-C-A |
TGFB1 |
c.517-740G>T |
- |
IntronicSNV |
- |
2/6 |
3-185515274-A-G |
IGF2BP2 |
c.239+25667T>C |
- |
IntronicSNV |
- |
2/15 |
15-91351868-A-C |
BLM |
c.3752-499A>C |
- |
IntronicSNV |
- |
19/21 |
5-82393549-A-G |
XRCC4 |
c.1-7190A>G |
- |
IntronicSNV |
- |
1/7 |
17-59763347-A-G |
BRIP1 |
c.2755T>C |
p.Ser919Pro |
Missense |
19/20 |
- |
3-142178144-C-T |
ATR |
c.7274G>A |
p.Arg2425Gln |
Missense |
43/47 |
- |
5-1288547-T-C |
TERT |
c.1573+4881A>G |
- |
IntronicSNV |
- |
2/14 |
2-47666838-T-C |
MSH2 |
c.1277-5849T>C |
- |
IntronicSNV |
- |
7/15 |
2-47666838-T-G |
MSH2 |
c.1277-5849T>G |
- |
IntronicSNV |
- |
7/15 |
7-6042522-C-T |
PMS2 |
c.354-255G>A |
- |
IntronicSNV |
- |
4/14 |
8-30900890-A-G |
WRN |
c.-77+9401A>G |
- |
intron_variant |
- |
1/34 |
4-39364856-T-C |
RFC1 |
c.3+3003A>G |
- |
IntronicSNV |
- |
1/24 |
15-99493176-C-T |
IGF1R |
c.3722+1239C>T |
- |
IntronicSNV |
- |
20/20 |
15-99493176-C-A |
IGF1R |
c.3722+1239C>A |
- |
IntronicSNV |
- |
20/20 |
15-89865692-T-C |
POLG |
c.2426+281A>G |
- |
IntronicSNV |
- |
14/22 |
11-47260272-T-C |
DDB2 |
c.1235-79T>C |
- |
IntronicSNV |
- |
9/9 |
11-47260272-T-A |
DDB2 |
c.1235-79T>A |
- |
IntronicSNV |
- |
9/9 |
1-154389196-A-T |
IL6R |
c.85+11006A>T |
- |
IntronicSNV |
- |
1/9 |
15-99458327-T-C |
IGF1R |
c.1829-866T>C |
- |
IntronicSNV |
- |
8/20 |
3-172166033-G-C |
GHSR |
c.171C>G |
p.Gly57Gly |
Synonymous |
1/1 |
- |
20-49162241-C-G |
PTPN1 |
c.1-19330C>G |
- |
IntronicSNV |
- |
1/8 |
2-128037478-C-T |
ERCC3 |
c.1528-527G>A |
- |
IntronicSNV |
- |
9/14 |
19-630844-C-G |
POLRMT |
c.194-676G>C |
- |
IntronicSNV |
- |
2/20 |
15-91351930-G-A |
BLM |
c.3752-437G>A |
- |
IntronicSNV |
- |
19/21 |
5-42514651-A-G |
GHR |
c.1-51326A>G |
- |
IntronicSNV |
- |
1/9 |
10-89720251-T-C |
PTEN |
c.802-400T>C |
- |
IntronicSNV |
- |
7/8 |
1-46722939-T-C |
RAD54L |
c.211-1419T>C |
- |
IntronicSNV |
- |
3/17 |
11-229977-G-A |
SIRT3 |
c.381+475C>T |
- |
IntronicSNV |
- |
4/6 |
3-87315800-A-C |
POU1F1 |
c.215-2138T>G |
- |
IntronicSNV |
- |
2/5 |
17-59911765-G-A |
BRIP1 |
c.627+12697C>T |
- |
IntronicSNV |
- |
6/19 |
5-42474696-C-T |
GHR |
c.-12+50639C>T |
- |
intron_variant |
- |
1/9 |
2-48024876-C-T |
MSH6 |
c.628-874C>T |
- |
IntronicSNV |
- |
3/9 |
17-59893990-A-G |
BRIP1 |
c.628-7872T>C |
- |
IntronicSNV |
- |
6/19 |
5-42564748-G-T |
GHR |
c.1-1229G>T |
- |
IntronicSNV |
- |
1/9 |
8-30933274-T-A |
WRN |
c.725-415T>A |
- |
IntronicSNV |
- |
7/34 |
8-30933274-T-G |
WRN |
c.725-415T>G |
- |
IntronicSNV |
- |
7/34 |
16-14029033-G-A |
ERCC4 |
c.1244G>A |
p.Arg415Gln |
Missense |
8/11 |
- |
8-48814587-C-T |
PRKDC |
c.3269+542G>A |
- |
IntronicSNV |
- |
27/85 |
10-69649220-A-G |
SIRT1 |
c.789+339A>G |
- |
IntronicSNV |
- |
3/8 |
1-154395839-C-A |
IL6R |
c.86-5833C>A |
- |
IntronicSNV |
- |
1/9 |
11-94212154-A-G |
MRE11 |
c.403-112T>C |
- |
IntronicSNV |
- |
5/19 |
11-47243665-G-C |
DDB2 |
c.456+5065G>C |
- |
IntronicSNV |
- |
3/9 |
12-1052393-T-G |
RAD52 |
c.-19+6375A>C |
- |
intron_variant |
- |
1/11 |
5-80025471-G-A |
MSH3 |
c.1568+687G>A |
- |
IntronicSNV |
- |
10/23 |
3-9801080-G-A |
CAMK1 |
c.912+92C>T |
- |
IntronicSNV |
- |
10/11 |
1-43160018-A-T |
YBX1 |
c.264+824A>T |
- |
IntronicSNV |
- |
3/7 |
5-131970885-T-G |
RAD50 |
c.3390-1922T>G |
- |
IntronicSNV |
- |
21/24 |
9-118965749-T-A |
PAPPA |
c.1479-3986T>A |
- |
IntronicSNV |
- |
2/21 |
19-7268438-G-C |
INSR |
c.101-531C>G |
- |
IntronicSNV |
- |
1/21 |
8-48741570-C-T |
PRKDC |
c.8395-662G>A |
- |
intron_variant |
- |
62/85 |
19-7184801-C-T |
INSR |
c.653-153G>A |
- |
IntronicSNV |
- |
2/21 |
15-99462640-C-T |
IGF1R |
c.2201+2535C>T |
- |
IntronicSNV |
- |
10/20 |
9-100447796-T-A |
XPA |
c.556-474A>T |
- |
IntronicSNV |
- |
4/5 |
19-48630763-G-A |
LIG1 |
c.1933-158C>T |
- |
IntronicSNV |
- |
20/27 |
5-80056961-C-T |
MSH3 |
c.1764-404C>T |
- |
IntronicSNV |
- |
12/23 |
8-42226805-C-G |
POLB |
c.725C>G |
p.Pro242Arg |
Missense |
12/14 |
- |
6-160390783-G-A |
IGF2R |
c.149+356G>A |
- |
IntronicSNV |
- |
1/47 |
1-11860120-T-C |
MTHFR |
c.586+149A>G |
- |
IntronicSNV |
- |
4/11 |
13-110411796-G-A |
IRS2 |
c.4013-3141C>T |
- |
IntronicSNV |
- |
1/1 |
3-10332365-T-G |
GHRL |
c.-30+35A>C |
- |
intron_variant |
- |
2/5 |
19-41837615-G-A |
TGFB1 |
c.1014+418C>T |
- |
IntronicSNV |
- |
6/6 |
19-41837615-G-C |
TGFB1 |
c.1014+418C>G |
- |
IntronicSNV |
- |
6/6 |
10-94225017-G-A |
IDE |
c.2488+416C>T |
- |
IntronicSNV |
- |
20/24 |
5-80126153-A-G |
MSH3 |
c.2813+16593A>G |
- |
IntronicSNV |
- |
20/23 |
17-59867229-T-C |
BRIP1 |
c.1473+3729A>G |
- |
IntronicSNV |
- |
10/19 |
5-80129828-A-G |
MSH3 |
c.2814-20121A>G |
- |
IntronicSNV |
- |
20/23 |
5-80073634-C-T |
MSH3 |
c.2319-905C>T |
- |
IntronicSNV |
- |
16/23 |
19-44060001-A-T |
XRCC1 |
c.256-1045T>A |
- |
IntronicSNV |
- |
3/16 |
15-99471429-T-G |
IGF1R |
c.2783-1358T>G |
- |
IntronicSNV |
- |
13/20 |
19-4180690-T-G |
SIRT6 |
c.194+89A>C |
- |
IntronicSNV |
- |
2/6 |
3-185408770-G-T |
IGF2BP2 |
c.405-1355C>A |
- |
IntronicSNV |
- |
5/15 |
9-119106881-C-A |
PAPPA |
c.3671C>A |
p.Ser1224Tyr |
Missense |
14/22 |
- |
16-69419394-G-A |
TERF2 |
c.380-5C>T |
- |
IntronicSNV |
- |
1/9 |
19-5694630-C-G |
LONP1 |
c.2155-67G>C |
- |
IntronicSNV |
- |
14/17 |
12-1031454-G-A |
RAD52 |
c.543+3162C>T |
- |
IntronicSNV |
- |
7/11 |
16-89805914-T-C |
FANCA |
c.3982A>G |
p.Thr1328Ala |
Missense |
40/43 |
- |
2-128050068-C-T |
ERCC3 |
c.471+118G>A |
- |
IntronicSNV |
- |
3/14 |
1-11867044-T-A |
CLCN6 |
c.88-144T>A |
- |
IntronicSNV |
- |
1/22 |
16-89839637-C-A |
FANCA |
c.2014+42G>T |
- |
IntronicSNV |
- |
22/42 |
5-80149702-C-G |
MSH3 |
c.2814-247C>G |
- |
IntronicSNV |
- |
20/23 |
5-80149702-C-A |
MSH3 |
c.2814-247C>A |
- |
IntronicSNV |
- |
20/23 |
6-160429883-A-G |
IGF2R |
c.290-159A>G |
- |
IntronicSNV |
- |
2/47 |
6-160394247-A-G |
IGF2R |
c.149+3820A>G |
- |
IntronicSNV |
- |
1/47 |
2-190689771-G-A |
PMS1 |
c.582+6865G>A |
- |
IntronicSNV |
- |
5/12 |
X-70321631-T-G |
FOXO4 |
c.1510+41T>G |
- |
IntronicSNV |
- |
2/2 |
1-11860843-G-A |
MTHFR |
c.475+375C>T |
- |
IntronicSNV |
- |
3/11 |
17-59940633-C-T |
BRIP1 |
c.-31+12G>A |
- |
intron_variant |
- |
1/19 |
5-1280477-G-A |
TERT |
c.1770-24C>T |
- |
IntronicSNV |
- |
3/14 |
11-108160350-C-T |
ATM |
c.4258C>T |
p.Leu1420Phe |
Missense |
29/63 |
- |
9-110053826-T-G |
RAD23B |
c.66+7850T>G |
- |
IntronicSNV |
- |
1/9 |
3-185420312-T-C |
IGF2BP2 |
c.240-4177A>G |
- |
IntronicSNV |
- |
2/15 |
2-227645525-T-A |
IRS1 |
c.*14201A>T |
- |
IntronicSNV |
- |
1/1 |
16-89844043-T-C |
FANCA |
c.1826+1166A>G |
- |
IntronicSNV |
- |
20/42 |
16-89844043-T-A |
FANCA |
c.1826+1166A>T |
- |
IntronicSNV |
- |
20/42 |
15-99240481-G-A |
IGF1R |
c.95-10310G>A |
- |
IntronicSNV |
- |
1/20 |
3-10332468-C-T |
GHRL |
c.-98G>A |
- |
5_prime_UTR_variant |
2/6 |
- |
8-11629809-C-G |
NEIL2 |
c.138+715C>G |
- |
IntronicSNV |
- |
2/4 |
10-14954024-G-A |
DCLRE1C |
c.812-2695C>T |
- |
IntronicSNV |
- |
12/12 |
11-94226952-C-A |
MRE11 |
c.-106+5G>T |
- |
splice_region_variant,intron_variant |
- |
1/19 |
11-94226952-C-T |
MRE11 |
c.-106+5G>A |
- |
splice_region_variant,intron_variant |
- |
1/19 |
11-94226952-C-G |
MRE11 |
c.-106+5G>C |
- |
splice_region_variant,intron_variant |
- |
1/19 |
19-7126218-A-G |
INSR |
c.3013+377T>C |
- |
IntronicSNV |
- |
16/21 |
16-57007451-G-A |
CETP |
c.930+29G>A |
- |
IntronicSNV |
- |
9/15 |
19-7292583-T-G |
INSR |
c.100+1220A>C |
- |
IntronicSNV |
- |
1/21 |
3-87315800-A-G |
POU1F1 |
c.215-2138T>C |
- |
IntronicSNV |
- |
2/5 |
19-44065388-C-T |
XRCC1 |
c.145-216G>A |
- |
IntronicSNV |
- |
2/16 |
1-242024245-T-A |
EXO1 |
c.944+239T>A |
- |
IntronicSNV |
- |
7/13 |
17-33331575-C-T |
LIG3 |
c.*50C>T |
- |
3-UTRSNV |
20/20 |
- |
3-37053568-A-C |
MLH1 |
c.655A>C |
p.Ile219Leu |
Missense |
8/19 |
- |
3-37053568-A-G |
MLH1 |
c.655A>G |
p.Ile219Val |
Missense |
8/19 |
- |
3-37053568-A-T |
MLH1 |
c.655A>T |
p.Ile219Phe |
Missense |
8/19 |
- |
1-43158510-C-T |
YBX1 |
c.231-651C>T |
- |
IntronicSNV |
- |
2/7 |
16-57005550-C-T |
CETP |
c.658+257C>T |
- |
IntronicSNV |
- |
7/15 |
19-45857235-C-A |
ERCC2 |
c.1666-643G>T |
- |
IntronicSNV |
- |
17/22 |
1-242013530-C-T |
EXO1 |
c.1-198C>T |
- |
IntronicSNV |
1/14 |
- |
8-11628375-T-A |
NEIL2 |
c.-3+531T>A |
- |
intron_variant |
- |
1/4 |
19-4176085-T-C |
SIRT6 |
c.438-151A>G |
- |
IntronicSNV |
- |
4/6 |
5-80026519-G-C |
MSH3 |
c.1568+1735G>C |
- |
IntronicSNV |
- |
10/23 |
1-154437896-T-C |
IL6R |
c.*40T>C |
- |
3-UTRSNV |
10/10 |
- |
15-99500064-C-T |
IGF1R |
c.3723-226C>T |
- |
IntronicSNV |
- |
20/20 |
1-11867044-T-G |
CLCN6 |
c.88-144T>G |
- |
IntronicSNV |
- |
1/22 |
12-21633036-C-T |
RECQL |
c.701-2133G>A |
- |
IntronicSNV |
- |
6/14 |
16-2645965-G-A |
PDPK1 |
c.1344-1687G>A |
- |
IntronicSNV |
- |
11/11 |
5-82543086-A-G |
XRCC4 |
c.746-11263A>G |
- |
IntronicSNV |
- |
6/7 |
3-14194430-T-G |
XPC |
c.2034-514A>C |
- |
IntronicSNV |
- |
10/15 |
8-31030275-A-G |
WRN |
c.4192-236A>G |
- |
IntronicSNV |
- |
34/34 |
8-31030275-A-C |
WRN |
c.4192-236A>C |
- |
IntronicSNV |
- |
34/34 |
8-11628726-G-C |
NEIL2 |
c.1-231G>C |
- |
IntronicSNV |
- |
1/4 |
1-46730398-G-A |
RAD54L |
c.892-2733G>A |
- |
IntronicSNV |
- |
8/17 |
9-119027076-T-C |
PAPPA |
c.2733-1060T>C |
- |
IntronicSNV |
- |
7/21 |
11-2150444-T-C |
IGF2 |
c.*3773A>G |
- |
3-UTRSNV |
4/4 |
- |
11-2150444-T-G |
IGF2 |
c.*3773A>C |
- |
3-UTRSNV |
4/4 |
- |
1-154426097-A-G |
IL6R |
c.1067-867A>G |
- |
IntronicSNV |
- |
8/9 |
3-37034946-G-A |
MLH1 |
c.1-93G>A |
- |
5-UTRSNV |
1/19 |
- |
8-30896151-T-A |
WRN |
c.-77+4662T>A |
- |
intron_variant |
- |
1/34 |
9-110057862-A-T |
RAD23B |
c.67-4560A>T |
- |
IntronicSNV |
- |
1/9 |
17-59924862-T-C |
BRIP1 |
c.508-281A>G |
- |
IntronicSNV |
- |
5/19 |
11-94221205-A-T |
MRE11 |
c.154-1955T>A |
- |
IntronicSNV |
- |
3/19 |
10-14982205-A-T |
DCLRE1C |
c.1-380T>A |
- |
IntronicSNV |
- |
2/12 |
2-217011612-G-T |
XRCC5 |
c.1477-1194G>T |
- |
IntronicSNV |
- |
13/20 |
17-1800600-C-G |
RPA1 |
c.*131C>G |
- |
3-UTRSNV |
17/17 |
- |
2-217010821-C-A |
XRCC5 |
c.1477-1985C>A |
- |
IntronicSNV |
- |
13/20 |
8-48739305-G-A |
PRKDC |
c.8692C>T |
- |
missense_variant |
64/86 |
- |
10-14901929-C-T |
HSPA14 |
c.993+3987C>T |
- |
IntronicSNV |
- |
10/13 |
8-30896151-T-G |
WRN |
c.-77+4662T>G |
- |
intron_variant |
- |
1/34 |
13-33609937-A-G |
KL |
c.820-17967A>G |
- |
IntronicSNV |
- |
1/4 |
10-14982205-A-G |
DCLRE1C |
c.1-380T>C |
- |
IntronicSNV |
- |
2/12 |
2-217011612-G-A |
XRCC5 |
c.1477-1194G>A |
- |
IntronicSNV |
- |
13/20 |
17-1800600-C-T |
RPA1 |
c.*131C>T |
- |
3-UTRSNV |
17/17 |
- |
11-61099072-G-A |
DDB1 |
c.153C>T |
p.Pro51Pro |
Synonymous |
2/27 |
- |
19-41854916-A-G |
TGFB1 |
c.356-556T>C |
- |
IntronicSNV |
- |
1/6 |
8-48858933-A-G |
PRKDC |
c.722-2344T>C |
- |
IntronicSNV |
- |
7/85 |
19-7262569-T-C |
INSR |
c.652+4787A>G |
- |
IntronicSNV |
- |
2/21 |
15-99491540-G-A |
IGF1R |
c.3588-263G>A |
- |
IntronicSNV |
- |
19/20 |
17-7583083-G-C |
TP53 |
c.1-3171C>G |
- |
IntronicSNV |
- |
1/10 |
16-57015545-C-A |
CETP |
c.1215-14C>A |
- |
IntronicSNV |
- |
12/15 |
16-57015545-C-T |
CETP |
c.1215-14C>T |
- |
IntronicSNV |
- |
12/15 |
11-116703640-G-C |
APOC3 |
c.*40G>C |
- |
3-UTRSNV |
4/4 |
- |
17-33326017-C-G |
LIG3 |
c.2113+271C>G |
- |
IntronicSNV |
- |
14/19 |
8-42196441-C-T |
POLB |
c.62-89C>T |
- |
IntronicSNV |
- |
1/13 |
8-42196441-C-G |
POLB |
c.62-89C>G |
- |
IntronicSNV |
- |
1/13 |
2-217507926-A-T |
IGFBP2 |
c.442+9238A>T |
- |
IntronicSNV |
- |
1/3 |
2-217507926-A-G |
IGFBP2 |
c.442+9238A>G |
- |
IntronicSNV |
- |
1/3 |
13-108859846-C-T |
LIG4 |
c.*1035G>A |
- |
3-UTRSNV |
2/2 |
- |
3-14207806-G-C |
XPC |
c.622-721C>G |
- |
IntronicSNV |
- |
5/15 |
19-44064865-C-G |
XRCC1 |
c.255+197G>C |
- |
IntronicSNV |
- |
3/16 |
8-73939623-C-T |
TERF1 |
c.887+336C>T |
- |
IntronicSNV |
- |
6/9 |
13-41161770-G-A |
FOXO1 |
c.631-26773C>T |
- |
IntronicSNV |
- |
1/2 |
19-45857235-C-G |
ERCC2 |
c.1666-643G>C |
- |
IntronicSNV |
- |
17/22 |
15-99464103-A-G |
IGF1R |
c.2202-1274A>G |
- |
IntronicSNV |
- |
10/20 |
19-7184238-G-A |
INSR |
c.974+89C>T |
- |
IntronicSNV |
- |
3/21 |
15-99484720-A-G |
IGF1R |
c.3458-1432A>G |
- |
IntronicSNV |
- |
18/20 |
15-41019867-A-G |
RAD51 |
c.531-1042A>G |
- |
IntronicSNV |
- |
6/9 |
3-142261339-G-A |
ATR |
c.3450+168C>T |
- |
IntronicSNV |
- |
17/46 |
3-142261339-G-T |
ATR |
c.3450+168C>A |
- |
IntronicSNV |
- |
17/46 |
2-216977028-A-G |
XRCC5 |
c.22-711A>G |
- |
IntronicSNV |
- |
1/20 |
6-160447017-G-A |
IGF2R |
c.647-1200G>A |
- |
IntronicSNV |
- |
5/47 |
8-145741130-C-T |
RECQL4 |
c.1258+18G>A |
- |
IntronicSNV |
- |
6/21 |
2-227608541-A-C |
IRS1 |
c.*22-7575T>G |
- |
intron_variant |
- |
1/1 |
19-45868478-T-A |
ERCC2 |
c.361-62A>T |
- |
IntronicSNV |
- |
5/22 |
5-80049626-C-T |
MSH3 |
c.1764-7739C>T |
- |
IntronicSNV |
- |
12/23 |
6-31778529-C-T |
HSPA1L |
c.1221G>A |
p.Thr407Thr |
Synonymous |
2/2 |
- |
13-41139712-T-C |
FOXO1 |
c.631-4715A>G |
- |
IntronicSNV |
- |
1/2 |
5-177419356-C-T |
PROP1 |
c.*354G>A |
- |
3-UTRSNV |
3/3 |
- |
5-42473114-A-G |
GHR |
c.-12+49057A>G |
- |
intron_variant |
- |
1/9 |
2-47704027-G-A |
MSH2 |
c.2210+317G>A |
- |
IntronicSNV |
- |
13/15 |
16-57011185-G-A |
CETP |
c.982-818G>A |
- |
IntronicSNV |
- |
10/15 |
5-80049892-A-G |
MSH3 |
c.1764-7473A>G |
- |
IntronicSNV |
- |
12/23 |
2-217003152-T-C |
XRCC5 |
c.1342+250T>C |
- |
IntronicSNV |
- |
12/20 |
3-10330377-C-T |
GHRL |
c.225+1069G>A |
- |
IntronicSNV |
- |
4/5 |
1-154436195-C-T |
IL6R |
c.1161-1415C>T |
- |
IntronicSNV |
- |
9/9 |
11-94182689-T-C |
MRE11 |
c.1564-2085A>G |
- |
IntronicSNV |
- |
14/19 |
6-31777946-C-T |
HSPA1L |
c.1804G>A |
p.Glu602Lys |
Missense |
2/2 |
- |
2-216982691-T-C |
XRCC5 |
c.368+174T>C |
- |
IntronicSNV |
- |
4/20 |
19-7184518-G-T |
INSR |
c.783C>A |
p.Asp261Glu |
Missense |
3/22 |
- |
15-99434357-G-A |
IGF1R |
c.641-197G>A |
- |
IntronicSNV |
- |
2/20 |
12-109547060-A-T |
UNG |
c.802-574A>T |
- |
IntronicSNV |
- |
6/6 |
17-7578645-C-G |
TP53 |
c.376-91G>C |
- |
IntronicSNV |
- |
4/10 |
19-7184518-G-C |
INSR |
c.783C>G |
p.Asp261Glu |
Missense |
3/22 |
- |
19-7184518-G-A |
INSR |
c.783C>T |
p.Asp261Asp |
Synonymous |
3/22 |
- |
6-160436203-T-C |
IGF2R |
c.513+4386T>C |
- |
IntronicSNV |
- |
4/47 |
13-108860204-T-C |
LIG4 |
c.*677A>G |
- |
3-UTRSNV |
2/2 |
- |
12-21643892-T-G |
RECQL |
c.214+561A>C |
- |
IntronicSNV |
- |
3/14 |
11-223119-T-C |
SIRT3 |
c.543+959A>G |
- |
IntronicSNV |
- |
5/6 |
13-110411568-C-T |
IRS2 |
c.4013-2913G>A |
- |
IntronicSNV |
- |
1/1 |
6-160443428-A-T |
IGF2R |
c.514-2176A>T |
- |
IntronicSNV |
- |
4/47 |
6-160443428-A-G |
IGF2R |
c.514-2176A>G |
- |
IntronicSNV |
- |
4/47 |
5-42436916-A-C |
GHR |
c.-12+12859A>C |
- |
intron_variant |
- |
1/9 |
5-42436916-A-G |
GHR |
c.-12+12859A>G |
- |
intron_variant |
- |
1/9 |
6-160494521-C-T |
IGF2R |
c.4947+20C>T |
- |
IntronicSNV |
- |
34/47 |
5-79965536-A-G |
MSH3 |
c.580-380A>G |
- |
IntronicSNV |
- |
3/23 |
1-11852300-C-G |
MTHFR |
c.1632+35G>C |
- |
IntronicSNV |
- |
10/11 |
15-99215098-G-A |
IGF1R |
c.94+22194G>A |
- |
IntronicSNV |
- |
1/20 |
8-30937790-T-G |
WRN |
c.840-593T>G |
- |
IntronicSNV |
- |
8/34 |
15-99483392-T-C |
IGF1R |
c.3457+803T>C |
- |
IntronicSNV |
- |
18/20 |
1-154423485-G-T |
IL6R |
c.1066+1029G>T |
- |
IntronicSNV |
- |
8/9 |
17-61566031-G-A |
ACE |
c.2328G>A |
p.Thr776Thr |
Synonymous |
16/25 |
- |
6-160427511-A-C |
IGF2R |
c.290-2531A>C |
- |
IntronicSNV |
- |
2/47 |
9-110062143-A-T |
RAD23B |
c.67-279A>T |
- |
IntronicSNV |
- |
1/9 |
12-133251939-G-A |
POLE |
c.1226+45C>T |
- |
IntronicSNV |
- |
12/48 |
13-33592409-C-G |
KL |
c.819+1012C>G |
- |
IntronicSNV |
- |
1/4 |
8-11635946-T-C |
NEIL2 |
c.139-1161T>C |
- |
IntronicSNV |
- |
2/4 |
2-216993611-C-A |
XRCC5 |
c.937+1214C>A |
- |
IntronicSNV |
- |
8/20 |
9-119149322-G-C |
PAPPA |
c.4776+4550G>C |
- |
IntronicSNV |
- |
21/21 |
10-60156166-A-G |
TFAM |
c.*1332A>G |
- |
3-UTRSNV |
7/7 |
- |
10-14963672-C-G |
DCLRE1C |
c.716+1308G>C |
- |
IntronicSNV |
- |
11/12 |
15-99498085-C-T |
IGF1R |
c.3723-2205C>T |
- |
IntronicSNV |
- |
20/20 |
2-48019485-T-C |
MSH6 |
c.457+1223T>C |
- |
IntronicSNV |
- |
2/9 |
10-69672999-G-A |
SIRT1 |
c.1915+211G>A |
- |
IntronicSNV |
- |
8/8 |
13-33592070-A-G |
KL |
c.819+673A>G |
- |
IntronicSNV |
- |
1/4 |
8-11638878-C-G |
NEIL2 |
c.491+1419C>G |
- |
IntronicSNV |
- |
3/4 |
5-80171134-A-C |
MSH3 |
c.3303-436A>C |
- |
IntronicSNV |
- |
23/23 |
5-80171134-A-G |
MSH3 |
c.3303-436A>G |
- |
IntronicSNV |
- |
23/23 |
5-80171134-A-T |
MSH3 |
c.3303-436A>T |
- |
IntronicSNV |
- |
23/23 |
17-1800087-A-G |
RPA1 |
c.1747-278A>G |
- |
IntronicSNV |
- |
16/16 |
12-102847076-A-G |
IGF1 |
c.220+22345T>C |
- |
IntronicSNV |
- |
2/3 |
15-91356253-A-C |
BLM |
c.4076+1617A>C |
- |
IntronicSNV |
- |
21/21 |
15-91356253-A-T |
BLM |
c.4076+1617A>T |
- |
IntronicSNV |
- |
21/21 |
15-99504671-C-T |
IGF1R |
c.*4000C>T |
- |
3-UTRSNV |
21/21 |
- |
6-160469947-C-G |
IGF2R |
c.2514+372C>G |
- |
IntronicSNV |
- |
18/47 |
2-227603905-C-A |
IRS1 |
c.*22-2939G>T |
- |
intron_variant |
- |
1/1 |
2-227603905-C-T |
IRS1 |
c.*22-2939G>A |
- |
intron_variant |
- |
1/1 |
4-39364688-C-A |
RFC1 |
c.3+3171G>T |
- |
IntronicSNV |
- |
1/24 |
4-39364688-C-G |
RFC1 |
c.3+3171G>C |
- |
IntronicSNV |
- |
1/24 |
5-60191460-A-G |
ERCC8 |
c.843+2643T>C |
- |
IntronicSNV |
- |
9/11 |
14-105239192-T-C |
AKT1 |
c.1172+23A>G |
- |
IntronicSNV |
- |
11/13 |
3-9809082-T-C |
CAMK1 |
c.83+269A>G |
- |
IntronicSNV |
- |
2/11 |
15-40989021-T-C |
RAD51 |
c.-3+1398T>C |
- |
intron_variant |
- |
1/9 |
11-108163487-C-T |
ATM |
c.4578C>T |
p.Pro1526Pro |
Synonymous |
30/63 |
- |
11-217140-T-C |
SIRT3 |
c.754-422A>G |
- |
IntronicSNV |
- |
6/6 |
14-75505486-A-T |
MLH3 |
c.3571-371T>A |
- |
IntronicSNV |
- |
5/11 |
15-99254554-C-T |
IGF1R |
c.640+3218C>T |
- |
IntronicSNV |
- |
2/20 |
13-108865461-G-A |
LIG4 |
c.-29+1425C>T |
- |
intron_variant |
- |
1/1 |
17-7577407-A-C |
TP53 |
c.782+92T>G |
- |
IntronicSNV |
- |
7/10 |
15-99498433-C-A |
IGF1R |
c.3723-1857C>A |
- |
IntronicSNV |
- |
20/20 |
15-99498433-C-T |
IGF1R |
c.3723-1857C>T |
- |
IntronicSNV |
- |
20/20 |
2-48018656-T-C |
MSH6 |
c.457+394T>C |
- |
IntronicSNV |
- |
2/9 |
8-11628129-A-C |
NEIL2 |
c.-3+285A>C |
- |
intron_variant |
- |
1/4 |
13-33592193-C-A |
KL |
c.819+796C>A |
- |
IntronicSNV |
- |
1/4 |
15-99454962-C-T |
IGF1R |
c.1589+292C>T |
- |
IntronicSNV |
- |
7/20 |
2-217521648-C-T |
IGFBP2 |
c.443-3632C>T |
- |
IntronicSNV |
- |
1/3 |
9-100452435-C-G |
XPA |
c.284-514G>C |
- |
IntronicSNV |
- |
2/5 |
6-160477885-G-A |
IGF2R |
c.2796+328G>A |
- |
IntronicSNV |
- |
20/47 |
9-100452435-C-T |
XPA |
c.284-514G>A |
- |
IntronicSNV |
- |
2/5 |
13-33634983-C-A |
KL |
c.1767C>A |
p.His589Gln |
Missense |
4/5 |
- |
13-33612839-G-T |
KL |
c.820-15065G>T |
- |
IntronicSNV |
- |
1/4 |
13-33634983-C-T |
KL |
c.1767C>T |
p.His589His |
Synonymous |
4/5 |
- |
8-30924557-C-T |
WRN |
c.513C>T |
p.Cys171Cys |
Synonymous |
6/35 |
- |
4-39367654-T-C |
RFC1 |
c.3+205A>G |
- |
IntronicSNV |
- |
1/24 |
10-70960448-A-G |
SUPV3L1 |
c.1518+193A>G |
- |
IntronicSNV |
- |
11/14 |
2-217514771-C-A |
IGFBP2 |
c.443-10509C>A |
- |
IntronicSNV |
- |
1/3 |
3-10331457-G-T |
GHRL |
c.214C>A |
p.Leu72Met |
Missense |
4/6 |
- |
10-50680845-T-C |
ERCC6 |
c.2829+110A>G |
- |
IntronicSNV |
- |
15/20 |
19-7278452-C-G |
INSR |
c.101-10545G>C |
- |
IntronicSNV |
- |
1/21 |
16-57016092-G-C |
CETP |
c.1264G>C |
p.Val422Leu |
Missense |
14/16 |
- |
2-217506265-A-G |
IGFBP2 |
c.442+7577A>G |
- |
IntronicSNV |
- |
1/3 |
19-7278452-C-T |
INSR |
c.101-10545G>A |
- |
IntronicSNV |
- |
1/21 |
12-133212582-G-A |
POLE |
c.5707C>T |
p.Leu1903Leu |
Synonymous |
42/49 |
- |
8-11629367-A-G |
NEIL2 |
c.138+273A>G |
- |
IntronicSNV |
- |
2/4 |
5-60236206-A-G |
ERCC8 |
c.77+4553T>C |
- |
IntronicSNV |
- |
1/11 |
2-227655348-C-T |
IRS1 |
c.*4378G>A |
- |
IntronicSNV |
- |
1/1 |
5-82373917-G-A |
XRCC4 |
c.-11+436G>A |
- |
intron_variant |
- |
1/7 |
5-42684937-T-C |
GHR |
c.137-4055T>C |
- |
IntronicSNV |
- |
3/9 |
9-100438344-T-C |
XPA |
c.674-475A>G |
- |
IntronicSNV |
- |
5/5 |
15-99467934-A-G |
IGF1R |
c.2782+21A>G |
- |
IntronicSNV |
- |
13/20 |
15-99467934-A-C |
IGF1R |
c.2782+21A>C |
- |
IntronicSNV |
- |
13/20 |
2-227649559-A-G |
IRS1 |
c.*10167T>C |
- |
IntronicSNV |
- |
1/1 |
13-33624889-A-C |
KL |
c.820-3015A>C |
- |
IntronicSNV |
- |
1/4 |
15-99467934-A-T |
IGF1R |
c.2782+21A>T |
- |
IntronicSNV |
- |
13/20 |
6-26093303-T-C |
HFE |
c.893-44T>C |
- |
IntronicSNV |
- |
4/5 |
16-75686146-G-A |
TERF2IP |
c.671-2025G>A |
- |
IntronicSNV |
- |
1/2 |
15-99479946-G-T |
IGF1R |
c.3297+1291G>T |
- |
IntronicSNV |
- |
17/20 |
3-10142949-C-A |
FANCD2 |
c.*3C>A |
- |
3-UTRSNV |
44/44 |
- |
19-48655759-T-C |
LIG1 |
c.467-1163A>G |
- |
IntronicSNV |
- |
6/27 |
19-44074212-A-G |
XRCC1 |
c.144+4850T>C |
- |
IntronicSNV |
- |
2/16 |
13-110419354-C-A |
IRS2 |
c.4013-10699G>T |
- |
IntronicSNV |
- |
1/1 |
4-39308187-G-C |
RFC1 |
c.1995+25C>G |
- |
IntronicSNV |
- |
14/24 |
7-6039129-T-C |
PMS2 |
c.538-223A>G |
- |
IntronicSNV |
- |
5/14 |
9-110083113-A-G |
RAD23B |
c.682-1151A>G |
- |
IntronicSNV |
- |
6/9 |
1-226585303-T-C |
PARP1 |
c.286+4612A>G |
- |
IntronicSNV |
- |
2/22 |
15-99490596-A-T |
IGF1R |
c.3588-1207A>T |
- |
IntronicSNV |
- |
19/20 |
13-103527528-A-C |
ERCC5 |
c.2965-129A>C |
- |
IntronicSNV |
- |
14/14 |
17-59763114-A-T |
BRIP1 |
c.2905+83T>A |
- |
IntronicSNV |
- |
19/19 |
12-1056030-C-G |
RAD52 |
c.-19+2738G>C |
- |
intron_variant |
- |
1/11 |
3-10333364-C-G |
GHRL |
c.-765-229G>C |
- |
intron_variant |
- |
1/5 |
7-6025136-G-A |
PMS2 |
c.2006+1254C>T |
- |
IntronicSNV |
- |
11/14 |
5-79964419-T-C |
MSH3 |
c.580-1497T>C |
- |
IntronicSNV |
- |
3/23 |
5-79964419-T-G |
MSH3 |
c.580-1497T>G |
- |
IntronicSNV |
- |
3/23 |
19-48631408-C-T |
LIG1 |
c.1822-131G>A |
- |
IntronicSNV |
- |
19/27 |
10-14985302-T-C |
DCLRE1C |
c.-44+1802A>G |
- |
intron_variant |
- |
3/12 |
3-9795372-A-G |
OGG1 |
c.566-1016A>G |
- |
IntronicSNV |
- |
3/6 |
16-75690279-A-G |
TERF2IP |
c.970A>G |
p.Lys324Glu |
Missense |
3/3 |
- |
7-45957055-G-C |
IGFBP3 |
c.422-17C>G |
- |
IntronicSNV |
- |
1/4 |
7-124489010-T-C |
POT1 |
c.557-1958A>G |
- |
IntronicSNV |
- |
10/17 |
7-124489010-T-G |
POT1 |
c.557-1958A>C |
- |
IntronicSNV |
- |
10/17 |
7-31018138-C-A |
GHRHR |
c.1147-596C>A |
- |
IntronicSNV |
- |
12/12 |
1-242035438-G-T |
EXO1 |
c.1372G>T |
p.Val458Leu |
Missense |
10/14 |
- |
19-4179636-C-T |
SIRT6 |
c.195-353G>A |
- |
IntronicSNV |
- |
2/6 |
17-61565025-G-T |
ACE |
c.2305+591G>T |
- |
IntronicSNV |
- |
15/24 |
19-45409167-C-G |
APOE |
c.-24+69C>G |
- |
intron_variant |
- |
1/3 |
19-48652002-G-A |
LIG1 |
c.776+1018C>T |
- |
IntronicSNV |
- |
9/27 |
19-44075636-G-A |
XRCC1 |
c.144+3426C>T |
- |
IntronicSNV |
- |
2/16 |
7-31003819-C-T |
GHRHR |
c.57+79C>T |
- |
IntronicSNV |
- |
1/12 |
8-11643459-C-T |
NEIL2 |
c.689-13C>T |
- |
IntronicSNV |
- |
4/4 |
10-69666598-T-C |
SIRT1 |
c.994T>C |
p.Leu332Leu |
Synonymous |
5/9 |
- |
7-45953573-T-C |
IGFBP3 |
c.*16-140A>G |
- |
intron_variant |
- |
4/4 |
12-21649539-A-G |
RECQL |
c.16+2950T>C |
- |
IntronicSNV |
- |
2/14 |
12-21649539-A-C |
RECQL |
c.16+2950T>G |
- |
IntronicSNV |
- |
2/14 |
5-80132177-C-T |
MSH3 |
c.2814-17772C>T |
- |
IntronicSNV |
- |
20/23 |
9-118988486-G-T |
PAPPA |
c.2112-1224G>T |
- |
IntronicSNV |
- |
5/21 |
17-1788646-A-G |
RPA1 |
c.1374+1408A>G |
- |
IntronicSNV |
- |
13/16 |
10-50728371-C-A |
ERCC6 |
c.1397+3708G>T |
- |
IntronicSNV |
- |
5/20 |
1-46727304-C-T |
RAD54L |
c.891+247C>T |
- |
IntronicSNV |
- |
8/17 |
17-61566724-G-C |
ACE |
c.2641+231G>C |
- |
IntronicSNV |
- |
17/24 |
1-154437896-T-A |
IL6R |
c.*40T>A |
- |
3-UTRSNV |
10/10 |
- |
17-61995918-A-G |
GH1 |
c.11-52T>C |
- |
IntronicSNV |
- |
1/4 |
5-42680096-G-C |
GHR |
c.137-8896G>C |
- |
IntronicSNV |
- |
3/9 |
19-41854916-A-C |
TGFB1 |
c.356-556T>G |
- |
IntronicSNV |
- |
1/6 |
2-47657684-G-A |
MSH2 |
c.1276+604G>A |
- |
IntronicSNV |
- |
7/15 |
17-61575637-A-G |
ACE |
c.*910A>G |
- |
3-UTRSNV |
25/25 |
- |
10-50741251-A-C |
ERCC6 |
c.1-241T>G |
- |
IntronicSNV |
- |
1/20 |
2-47672569-G-A |
MSH2 |
c.1277-118G>A |
- |
IntronicSNV |
- |
7/15 |
2-47672569-G-C |
MSH2 |
c.1277-118G>C |
- |
IntronicSNV |
- |
7/15 |
5-82377004-G-A |
XRCC4 |
c.-11+3523G>A |
- |
intron_variant |
- |
1/7 |
16-89862906-A-C |
FANCA |
c.894-480T>G |
- |
IntronicSNV |
- |
10/42 |
13-103518844-C-T |
ERCC5 |
c.2319+113C>T |
- |
IntronicSNV |
- |
10/14 |
16-89841552-T-A |
FANCA |
c.1900+598A>T |
- |
IntronicSNV |
- |
21/42 |
15-99445469-A-T |
IGF1R |
c.1247+2619A>T |
- |
IntronicSNV |
- |
5/20 |
12-102847076-A-T |
IGF1 |
c.220+22345T>A |
- |
IntronicSNV |
- |
2/3 |
15-99435815-A-G |
IGF1R |
c.953+949A>G |
- |
IntronicSNV |
- |
3/20 |
16-69402252-C-T |
TERF2 |
c.947+27G>A |
- |
IntronicSNV |
- |
6/9 |
16-89851033-C-G |
FANCA |
c.1470+229G>C |
- |
IntronicSNV |
- |
15/42 |
5-60190594-A-G |
ERCC8 |
c.843+3509T>C |
- |
IntronicSNV |
- |
9/11 |
3-9803627-A-G |
CAMK1 |
c.430-186T>C |
- |
IntronicSNV |
- |
5/11 |
3-185408770-G-C |
IGF2BP2 |
c.405-1355C>G |
- |
IntronicSNV |
- |
5/15 |
13-110426000-G-A |
IRS2 |
c.4012+8389C>T |
- |
IntronicSNV |
- |
1/1 |
1-11862214-T-C |
MTHFR |
c.236+724A>G |
- |
IntronicSNV |
- |
2/11 |
13-110409336-A-G |
IRS2 |
c.4013-681T>C |
- |
IntronicSNV |
- |
1/1 |
15-91356504-T-C |
BLM |
c.4077-1828T>C |
- |
IntronicSNV |
- |
21/21 |
15-99453563-A-G |
IGF1R |
c.1463-981A>G |
- |
IntronicSNV |
- |
6/20 |
8-11629367-A-T |
NEIL2 |
c.138+273A>T |
- |
IntronicSNV |
- |
2/4 |
9-119094545-A-C |
PAPPA |
c.3262-67A>C |
- |
IntronicSNV |
- |
11/21 |
9-118980049-A-T |
PAPPA |
c.1919-2167A>T |
- |
IntronicSNV |
- |
4/21 |
7-31008686-G-A |
GHRHR |
c.169G>A |
p.Ala57Thr |
Missense |
3/13 |
- |
17-7583083-G-A |
TP53 |
c.1-3171C>T |
- |
IntronicSNV |
- |
1/10 |
13-33593270-T-C |
KL |
c.819+1873T>C |
- |
IntronicSNV |
- |
1/4 |
12-1038742-A-G |
RAD52 |
c.348+243T>C |
- |
IntronicSNV |
- |
5/11 |
11-94170674-C-A |
MRE11 |
c.1868-273G>T |
- |
IntronicSNV |
- |
16/19 |
17-7577644-C-T |
TP53 |
c.673-36G>A |
- |
IntronicSNV |
- |
6/10 |
14-105259734-C-A |
AKT1 |
c.-350G>T |
- |
5_prime_UTR_variant |
1/14 |
- |
1-242052621-T-G |
EXO1 |
c.2406-146T>G |
- |
IntronicSNV |
- |
13/13 |
17-1784775-C-G |
RPA1 |
c.1241+790C>G |
- |
IntronicSNV |
- |
12/16 |
17-1784775-C-T |
RPA1 |
c.1241+790C>T |
- |
IntronicSNV |
- |
12/16 |
12-102856474-A-G |
IGF1 |
c.220+12947T>C |
- |
IntronicSNV |
- |
2/3 |
15-91307410-C-G |
BLM |
c.2074+1023C>G |
- |
IntronicSNV |
- |
8/21 |
3-87311893-T-A |
POU1F1 |
c.440-508A>T |
- |
IntronicSNV |
- |
3/5 |
11-108177097-T-C |
ATM |
c.5674+1518T>C |
- |
IntronicSNV |
- |
37/62 |
3-185481068-C-T |
IGF2BP2 |
c.239+59873G>A |
- |
IntronicSNV |
- |
2/15 |
13-108861913-A-G |
LIG4 |
c.1704T>C |
p.Asp568Asp |
Synonymous |
2/2 |
- |
14-75513828-G-A |
MLH3 |
c.2531C>T |
p.Pro844Leu |
Missense |
2/12 |
- |
8-30966273-C-G |
WRN |
c.2089-2858C>G |
- |
IntronicSNV |
- |
18/34 |
14-105237680-G-C |
AKT1 |
c.1261-496C>G |
- |
IntronicSNV |
- |
12/13 |
17-7577644-C-G |
TP53 |
c.673-36G>C |
- |
IntronicSNV |
- |
6/10 |
7-31013504-G-A |
GHRHR |
c.598-96G>A |
- |
IntronicSNV |
- |
6/12 |
13-33635463-T-C |
KL |
c.2247T>C |
p.Ala749Ala |
Synonymous |
4/5 |
- |
3-14197546-A-G |
XPC |
c.2033+289T>C |
- |
IntronicSNV |
- |
10/15 |
13-33622695-C-T |
KL |
c.820-5209C>T |
- |
IntronicSNV |
- |
1/4 |
19-7268438-G-A |
INSR |
c.101-531C>T |
- |
IntronicSNV |
- |
1/21 |
12-21646562-A-C |
RECQL |
c.17-1912T>G |
- |
IntronicSNV |
- |
2/14 |
8-11634194-T-A |
NEIL2 |
c.139-2913T>A |
- |
IntronicSNV |
- |
2/4 |
19-7132570-T-C |
INSR |
c.2683-242A>G |
- |
IntronicSNV |
- |
13/21 |
6-31778272-G-T |
HSPA1L |
c.1478C>A |
p.Thr493Lys |
Missense |
2/2 |
- |
1-43155062-G-T |
YBX1 |
c.231-4099G>T |
- |
IntronicSNV |
- |
2/7 |
15-91358202-G-A |
BLM |
c.4077-130G>A |
- |
IntronicSNV |
- |
21/21 |
5-42717610-C-T |
GHR |
c.876-544C>T |
- |
IntronicSNV |
- |
8/9 |
5-42717610-C-A |
GHR |
c.876-544C>A |
- |
IntronicSNV |
- |
8/9 |
9-100448617-A-G |
XPA |
c.555+761T>C |
- |
IntronicSNV |
- |
4/5 |
11-94188387-G-A |
MRE11 |
c.1563+1055C>T |
- |
IntronicSNV |
- |
14/19 |
9-100453863-A-G |
XPA |
c.284-1942T>C |
- |
IntronicSNV |
- |
2/5 |
10-70968199-G-T |
SUPV3L1 |
c.1926-157G>T |
- |
IntronicSNV |
- |
14/14 |
4-39310882-G-A |
RFC1 |
c.1489-230C>T |
- |
IntronicSNV |
- |
12/24 |
8-31023822-A-G |
WRN |
c.3983-716A>G |
- |
IntronicSNV |
- |
33/34 |
16-75681743-C-G |
TERF2IP |
c.1-38C>G |
- |
5-UTRSNV |
1/3 |
- |
15-99247795-G-T |
IGF1R |
c.95-2996G>T |
- |
IntronicSNV |
- |
1/20 |
11-94186955-T-C |
MRE11 |
c.1563+2487A>G |
- |
IntronicSNV |
- |
14/19 |
6-160479478-G-A |
IGF2R |
c.2898+322G>A |
- |
IntronicSNV |
- |
21/47 |
13-33592777-T-C |
KL |
c.819+1380T>C |
- |
IntronicSNV |
- |
1/4 |
3-185447038-T-C |
IGF2BP2 |
c.240-30903A>G |
- |
IntronicSNV |
- |
2/15 |
3-142210801-G-A |
ATR |
c.6078+1173C>T |
- |
IntronicSNV |
- |
35/46 |
15-99248132-G-T |
IGF1R |
c.95-2659G>T |
- |
IntronicSNV |
- |
1/20 |
1-226568665-T-C |
PARP1 |
c.1300+104A>G |
- |
IntronicSNV |
- |
9/22 |
13-110434310-G-A |
IRS2 |
c.4012+79C>T |
- |
IntronicSNV |
- |
1/1 |
1-226557878-T-C |
PARP1 |
c.2154+257A>G |
- |
IntronicSNV |
- |
15/22 |
19-7171662-C-T |
INSR |
c.1268+639G>A |
- |
IntronicSNV |
- |
5/21 |
6-160422785-A-G |
IGF2R |
c.290-7257A>G |
- |
IntronicSNV |
- |
2/47 |
19-44081216-A-C |
PINLYP |
c.1-56A>C |
- |
IntronicSNV |
2/6 |
- |
19-44081216-A-G |
PINLYP |
c.1-56A>G |
- |
IntronicSNV |
2/6 |
- |
8-30975000-G-A |
WRN |
c.2448+956G>A |
- |
IntronicSNV |
- |
20/34 |
1-242035438-G-A |
EXO1 |
c.1372G>A |
p.Val458Met |
Missense |
10/14 |
- |
19-44076164-A-T |
XRCC1 |
c.144+2898T>A |
- |
IntronicSNV |
- |
2/16 |
6-31778077-T-G |
HSPA1L |
c.1673A>C |
p.Glu558Ala |
Missense |
2/2 |
- |
1-242052621-T-A |
EXO1 |
c.2406-146T>A |
- |
IntronicSNV |
- |
13/13 |
16-69419394-G-T |
TERF2 |
c.380-5C>A |
- |
IntronicSNV |
- |
1/9 |
9-119033334-C-A |
PAPPA |
c.2862-270C>A |
- |
IntronicSNV |
- |
8/21 |
19-44074212-A-T |
XRCC1 |
c.144+4850T>A |
- |
IntronicSNV |
- |
2/16 |
10-94311924-T-C |
IDE |
c.99-14617A>G |
- |
IntronicSNV |
- |
1/24 |
5-79961470-T-C |
MSH3 |
c.579+288T>C |
- |
IntronicSNV |
- |
3/23 |
19-50909389-T-G |
POLD1 |
c.1243-50T>G |
- |
IntronicSNV |
- |
10/26 |
15-65117822-C-A |
PIF1 |
c.-50G>T |
- |
5_prime_UTR_variant |
1/13 |
- |
11-94199272-G-A |
MRE11 |
c.1098+1707C>T |
- |
IntronicSNV |
- |
10/19 |
8-30896151-T-C |
WRN |
c.-77+4662T>C |
- |
intron_variant |
- |
1/34 |
16-57004889-G-A |
CETP |
c.528-56G>A |
- |
IntronicSNV |
- |
5/15 |
19-50909389-T-A |
POLD1 |
c.1243-50T>A |
- |
IntronicSNV |
- |
10/26 |
19-7163154-G-A |
INSR |
c.1918C>T |
p.Leu640Leu |
Synonymous |
9/22 |
- |
12-133213450-C-T |
POLE |
c.5679-840G>A |
- |
IntronicSNV |
- |
41/48 |
12-1026319-T-C |
RAD52 |
c.544-333A>G |
- |
IntronicSNV |
- |
7/11 |
3-10083935-G-A |
FANCD2 |
c.784-308G>A |
- |
IntronicSNV |
- |
10/43 |
6-160395632-A-T |
IGF2R |
c.149+5205A>T |
- |
IntronicSNV |
- |
1/47 |
1-11860458-C-G |
MTHFR |
c.476-79G>C |
- |
IntronicSNV |
- |
3/11 |
1-11860458-C-T |
MTHFR |
c.476-79G>A |
- |
IntronicSNV |
- |
3/11 |
5-1265204-C-T |
TERT |
c.2654+1375G>A |
- |
IntronicSNV |
- |
10/14 |
19-7134402-T-G |
INSR |
c.2683-2074A>C |
- |
IntronicSNV |
- |
13/21 |
1-11857951-T-A |
MTHFR |
c.587-1495A>T |
- |
IntronicSNV |
- |
4/11 |
1-11857951-T-C |
MTHFR |
c.587-1495A>G |
- |
IntronicSNV |
- |
4/11 |
13-41223886-C-T |
FOXO1 |
c.630+15834G>A |
- |
IntronicSNV |
- |
1/2 |
13-108863591-G-A |
LIG4 |
c.26C>T |
p.Thr9Ile |
Missense |
2/2 |
- |
9-119075942-A-C |
PAPPA |
c.3147+10713A>C |
- |
IntronicSNV |
- |
10/21 |
11-2158179-T-G |
IGF2 |
c.-7+1280A>C |
- |
intron_variant |
- |
1/3 |
13-110430768-G-C |
IRS2 |
c.4012+3621C>G |
- |
IntronicSNV |
- |
1/1 |
9-119134796-A-G |
PAPPA |
c.4605+4763A>G |
- |
IntronicSNV |
- |
19/21 |
13-41140044-T-A |
FOXO1 |
c.631-5047A>T |
- |
IntronicSNV |
- |
1/2 |
19-5694630-C-T |
LONP1 |
c.2155-67G>A |
- |
IntronicSNV |
- |
14/17 |
2-217511100-C-T |
IGFBP2 |
c.442+12412C>T |
- |
IntronicSNV |
- |
1/3 |
1-46718905-G-A |
RAD54L |
c.210+3114G>A |
- |
IntronicSNV |
- |
3/17 |
10-50691159-T-G |
ERCC6 |
c.1992+233A>C |
- |
IntronicSNV |
- |
9/20 |
11-94169451-A-G |
MRE11 |
c.1927-386T>C |
- |
IntronicSNV |
- |
17/19 |
19-45856926-C-A |
ERCC2 |
c.1666-334G>T |
- |
IntronicSNV |
- |
17/22 |
20-49146109-C-T |
PTPN1 |
c.-66+18982C>T |
- |
intron_variant |
- |
1/8 |
15-99196112-G-A |
IGF1R |
c.94+3208G>A |
- |
IntronicSNV |
- |
1/20 |
10-14891406-G-A |
HSPA14 |
c.377-314G>A |
- |
IntronicSNV |
- |
5/13 |
5-60239698-C-G |
ERCC8 |
c.77+1061G>C |
- |
IntronicSNV |
- |
1/11 |
5-80033835-A-G |
MSH3 |
c.1569-3448A>G |
- |
IntronicSNV |
- |
10/23 |
15-91307410-C-T |
BLM |
c.2074+1023C>T |
- |
IntronicSNV |
- |
8/21 |
12-21631934-G-A |
RECQL |
c.701-1031C>T |
- |
IntronicSNV |
- |
6/14 |
9-100442806-T-C |
XPA |
c.673+4399A>G |
- |
IntronicSNV |
- |
5/5 |
3-172165727-C-T |
GHSR |
c.477G>A |
p.Arg159Arg |
Synonymous |
1/1 |
- |
15-99475526-G-A |
IGF1R |
c.2956+1992G>A |
- |
IntronicSNV |
- |
15/20 |
20-49162108-G-A |
PTPN1 |
c.1-19463G>A |
- |
IntronicSNV |
- |
1/8 |
19-45924362-G-C |
ERCC1 |
c.321+74C>G |
- |
IntronicSNV |
- |
3/9 |
15-91321435-A-C |
BLM |
c.2556-4617A>C |
- |
IntronicSNV |
- |
12/21 |
15-91321435-A-G |
BLM |
c.2556-4617A>G |
- |
IntronicSNV |
- |
12/21 |
15-99475526-G-T |
IGF1R |
c.2956+1992G>T |
- |
IntronicSNV |
- |
15/20 |
10-94276655-A-G |
IDE |
c.662-1856T>C |
- |
IntronicSNV |
- |
4/24 |
8-48803675-T-C |
PRKDC |
c.3845-634A>G |
- |
intron_variant |
- |
32/85 |
13-103522967-A-C |
ERCC5 |
c.2679-1581A>C |
- |
IntronicSNV |
- |
12/14 |
13-103522967-A-T |
ERCC5 |
c.2679-1581A>T |
- |
IntronicSNV |
- |
12/14 |
4-39291812-G-A |
RFC1 |
c.3169-153C>T |
- |
IntronicSNV |
- |
23/24 |
1-242049649-G-C |
EXO1 |
c.2405+840G>C |
- |
IntronicSNV |
- |
13/13 |
19-45865690-C-A |
ERCC2 |
c.1119-790G>T |
- |
IntronicSNV |
- |
11/22 |
16-89845110-A-T |
FANCA |
c.1826+99T>A |
- |
IntronicSNV |
- |
20/42 |
2-47693959-G-T |
MSH2 |
c.1661+12G>T |
- |
IntronicSNV |
- |
10/15 |
2-217044385-C-G |
XRCC5 |
c.1835-10563C>G |
- |
IntronicSNV |
- |
16/20 |
13-110429444-G-T |
IRS2 |
c.4012+4945C>A |
- |
IntronicSNV |
- |
1/1 |
13-110429444-G-C |
IRS2 |
c.4012+4945C>G |
- |
IntronicSNV |
- |
1/1 |
16-89845110-A-G |
FANCA |
c.1826+99T>C |
- |
IntronicSNV |
- |
20/42 |
10-14901929-C-G |
HSPA14 |
c.993+3987C>G |
- |
IntronicSNV |
- |
10/13 |
15-99487888-G-T |
IGF1R |
c.3587+1607G>T |
- |
IntronicSNV |
- |
19/20 |
11-229977-G-C |
SIRT3 |
c.381+475C>G |
- |
IntronicSNV |
- |
4/6 |
11-94187926-A-T |
MRE11 |
c.1563+1516T>A |
- |
IntronicSNV |
- |
14/19 |
5-82521618-C-A |
XRCC4 |
c.745+20878C>A |
- |
IntronicSNV |
- |
6/7 |
15-91351868-A-T |
BLM |
c.3752-499A>T |
- |
IntronicSNV |
- |
19/21 |
15-99203445-C-T |
IGF1R |
c.94+10541C>T |
- |
IntronicSNV |
- |
1/20 |
6-31783507-G-C |
HSPA1A |
c.1-27G>C |
- |
5-UTRSNV |
1/1 |
- |
16-57007192-T-C |
CETP |
c.751-51T>C |
- |
IntronicSNV |
- |
8/15 |
20-49152783-A-G |
PTPN1 |
c.-66+25656A>G |
- |
intron_variant |
- |
1/8 |
12-102838515-C-T |
IGF1 |
c.221-25047G>A |
- |
IntronicSNV |
- |
2/3 |
13-41161979-C-G |
FOXO1 |
c.631-26982G>C |
- |
IntronicSNV |
- |
1/2 |
5-131933016-A-C |
RAD50 |
c.2207+1514A>C |
- |
IntronicSNV |
- |
13/24 |
5-42495335-C-T |
GHR |
c.1-70642C>T |
- |
IntronicSNV |
- |
1/9 |
10-102750783-C-T |
TWNK |
c.1734+16C>T |
- |
IntronicSNV |
- |
4/4 |
10-102750783-C-A |
TWNK |
c.1734+16C>A |
- |
IntronicSNV |
- |
4/4 |
8-42213256-G-A |
POLB |
c.422+171G>A |
- |
IntronicSNV |
- |
7/13 |
17-59939105-C-T |
BRIP1 |
c.1-205G>A |
- |
IntronicSNV |
1/20 |
- |
17-61560763-T-C |
ACE |
c.1488-58T>C |
- |
IntronicSNV |
- |
9/24 |
5-82376926-C-T |
XRCC4 |
c.-11+3445C>T |
- |
intron_variant |
- |
1/7 |
5-82376926-C-G |
XRCC4 |
c.-11+3445C>G |
- |
intron_variant |
- |
1/7 |
2-217059964-C-T |
XRCC5 |
c.2109+255C>T |
- |
IntronicSNV |
- |
19/20 |
15-91338160-T-G |
BLM |
c.3210+573T>G |
- |
IntronicSNV |
- |
16/21 |
20-5099516-G-A |
PCNA |
c.222-4C>T |
- |
IntronicSNV |
- |
2/6 |
3-185444561-G-C |
IGF2BP2 |
c.240-28426C>G |
- |
IntronicSNV |
- |
2/15 |
5-60223533-T-C |
ERCC8 |
c.173+1158A>G |
- |
IntronicSNV |
- |
2/11 |
11-230368-C-T |
SIRT3 |
c.381+84G>A |
- |
IntronicSNV |
- |
4/6 |
11-47237680-T-C |
DDB2 |
c.128-207T>C |
- |
IntronicSNV |
- |
1/9 |
12-102796522-G-T |
IGF1 |
c.403-178C>A |
- |
IntronicSNV |
- |
3/3 |
9-110085568-C-T |
RAD23B |
c.818-603C>T |
- |
IntronicSNV |
- |
7/9 |
17-1761446-G-A |
RPA1 |
c.361+4963G>A |
- |
IntronicSNV |
- |
5/16 |
12-102831722-T-G |
IGF1 |
c.221-18254A>C |
- |
IntronicSNV |
- |
2/3 |
6-160508172-T-C |
IGF2R |
c.6206-893T>C |
- |
IntronicSNV |
- |
41/47 |
8-30938704-G-A |
WRN |
c.1161G>A |
p.Met387Ile |
Missense |
9/35 |
- |
12-21627525-C-T |
RECQL |
c.1355+250G>A |
- |
IntronicSNV |
- |
11/14 |
2-217500819-A-G |
IGFBP2 |
c.442+2131A>G |
- |
IntronicSNV |
- |
1/3 |
11-233067-C-A |
SIRT3 |
c.196G>T |
p.Val66Phe |
Missense |
3/7 |
- |
11-233067-C-T |
SIRT3 |
c.196G>A |
p.Val66Ile |
Missense |
3/7 |
- |
13-33628239-G-A |
KL |
c.1155G>A |
p.Lys385Lys |
Synonymous |
2/5 |
- |
10-70948682-T-C |
SUPV3L1 |
c.573-341T>C |
- |
IntronicSNV |
- |
4/14 |
13-41203905-C-T |
FOXO1 |
c.630+35815G>A |
- |
IntronicSNV |
- |
1/2 |
11-61069358-T-C |
DDB1 |
c.3215+371A>G |
- |
IntronicSNV |
- |
25/26 |
1-154394417-T-C |
IL6R |
c.86-7255T>C |
- |
IntronicSNV |
- |
1/9 |
1-154394417-T-A |
IL6R |
c.86-7255T>A |
- |
IntronicSNV |
- |
1/9 |
10-89645473-A-G |
PTEN |
c.80-8309A>G |
- |
IntronicSNV |
- |
1/8 |
12-133226831-C-A |
POLE |
c.3583-356G>T |
- |
IntronicSNV |
- |
29/48 |
7-45955029-A-G |
IGFBP3 |
c.769-485T>C |
- |
IntronicSNV |
- |
3/4 |
5-82648977-T-A |
XRCC4 |
c.921T>A |
p.Ser307Ser |
Synonymous |
8/8 |
- |
15-91302248-C-G |
BLM |
c.1088-1129C>G |
- |
IntronicSNV |
- |
5/21 |
15-99496859-A-G |
IGF1R |
c.3723-3431A>G |
- |
IntronicSNV |
- |
20/20 |
12-109547060-A-G |
UNG |
c.802-574A>G |
- |
IntronicSNV |
- |
6/6 |
19-7132081-C-T |
INSR |
c.2842+88G>A |
- |
IntronicSNV |
- |
14/21 |
5-82648977-T-G |
XRCC4 |
c.921T>G |
p.Ser307Ser |
Synonymous |
8/8 |
- |
5-1257621-G-A |
TERT |
c.2843+1092C>T |
- |
IntronicSNV |
- |
12/14 |
19-50896360-T-A |
POLD1 |
c.1-5749T>A |
- |
IntronicSNV |
- |
1/26 |
19-50896360-T-C |
POLD1 |
c.1-5749T>C |
- |
IntronicSNV |
- |
1/26 |
15-99479946-G-A |
IGF1R |
c.3297+1291G>A |
- |
IntronicSNV |
- |
17/20 |
5-42680096-G-A |
GHR |
c.137-8896G>A |
- |
IntronicSNV |
- |
3/9 |
19-45923496-T-C |
ERCC1 |
c.425+86A>G |
- |
IntronicSNV |
- |
4/9 |
10-50722825-T-G |
ERCC6 |
c.1398-8767A>C |
- |
IntronicSNV |
- |
5/20 |
11-224393-A-G |
SIRT3 |
c.382-154T>C |
- |
IntronicSNV |
- |
4/6 |
3-9803126-A-G |
CAMK1 |
c.632+19T>C |
- |
IntronicSNV |
- |
7/11 |
6-26087856-T-A |
HFE |
c.76+112T>A |
- |
IntronicSNV |
- |
1/5 |
16-89818491-T-C |
FANCA |
c.3066+55A>G |
- |
IntronicSNV |
- |
31/42 |
5-79957835-A-G |
MSH3 |
c.359-3127A>G |
- |
IntronicSNV |
- |
2/23 |
9-119157030-T-A |
PAPPA |
c.4777-1758T>A |
- |
IntronicSNV |
- |
21/21 |
7-31017103-G-C |
GHRHR |
c.1146+166G>C |
- |
IntronicSNV |
- |
12/12 |
15-91274575-G-T |
BLM |
c.-5+13904G>T |
- |
intron_variant |
- |
1/21 |
3-14197546-A-C |
XPC |
c.2033+289T>G |
- |
IntronicSNV |
- |
10/15 |
15-99227435-G-A |
IGF1R |
c.95-23356G>A |
- |
IntronicSNV |
- |
1/20 |
3-185445760-C-T |
IGF2BP2 |
c.240-29625G>A |
- |
IntronicSNV |
- |
2/15 |
7-45956969-T-G |
IGFBP3 |
c.491A>C |
p.His164Pro |
Missense |
2/5 |
- |
15-89869666-G-A |
POLG |
c.1712+177C>T |
- |
IntronicSNV |
- |
9/22 |
11-94165326-T-C |
MRE11 |
c.1995-2174A>G |
- |
IntronicSNV |
- |
18/19 |
1-43169007-A-G |
YBX1 |
c.*1387A>G |
- |
3_prime_UTR_variant |
8/8 |
- |
10-14988600-T-C |
DCLRE1C |
c.-128-1412A>G |
- |
intron_variant |
- |
2/12 |
5-42714692-A-C |
GHR |
c.875+1071A>C |
- |
IntronicSNV |
- |
8/9 |
7-124464431-T-C |
POT1 |
c.1400-303A>G |
- |
IntronicSNV |
- |
17/17 |
12-102853243-C-T |
IGF1 |
c.220+16178G>A |
- |
IntronicSNV |
- |
2/3 |
2-47704027-G-C |
MSH2 |
c.2210+317G>C |
- |
IntronicSNV |
- |
13/15 |
8-30973811-C-T |
WRN |
c.2274-59C>T |
- |
IntronicSNV |
- |
19/34 |
16-57017662-G-A |
CETP |
c.*84G>A |
- |
3-UTRSNV |
16/16 |
- |
8-30973811-C-G |
WRN |
c.2274-59C>G |
- |
IntronicSNV |
- |
19/34 |
5-60181500-T-A |
ERCC8 |
c.1122+1767A>T |
- |
IntronicSNV |
- |
11/11 |
9-110085568-C-G |
RAD23B |
c.818-603C>G |
- |
IntronicSNV |
- |
7/9 |
6-160427511-A-T |
IGF2R |
c.290-2531A>T |
- |
IntronicSNV |
- |
2/47 |
1-154395839-C-T |
IL6R |
c.86-5833C>T |
- |
IntronicSNV |
- |
1/9 |
5-42611848-T-G |
GHR |
c.71-17292T>G |
- |
IntronicSNV |
- |
2/9 |
7-31017103-G-T |
GHRHR |
c.1146+166G>T |
- |
IntronicSNV |
- |
12/12 |
3-185490734-T-G |
IGF2BP2 |
c.239+50207A>C |
- |
IntronicSNV |
- |
2/15 |
6-160403788-C-T |
IGF2R |
c.150-8428C>T |
- |
IntronicSNV |
- |
1/47 |
1-11852300-C-T |
MTHFR |
c.1632+35G>A |
- |
IntronicSNV |
- |
10/11 |
1-226573364-A-G |
PARP1 |
c.852T>C |
p.Ala284Ala |
Synonymous |
7/23 |
- |
5-42483693-T-C |
GHR |
c.-12+59636T>C |
- |
intron_variant |
- |
1/9 |
5-80016874-T-C |
MSH3 |
c.1341-4398T>C |
- |
IntronicSNV |
- |
8/23 |
15-99454031-C-G |
IGF1R |
c.1463-513C>G |
- |
IntronicSNV |
- |
6/20 |
19-5696962-G-A |
LONP1 |
c.1686-194C>T |
- |
IntronicSNV |
- |
10/17 |
3-142216916-C-T |
ATR |
c.5558+523G>A |
- |
IntronicSNV |
- |
32/46 |
6-160402705-G-A |
IGF2R |
c.150-9511G>A |
- |
IntronicSNV |
- |
1/47 |
15-99475275-T-C |
IGF1R |
c.2956+1741T>C |
- |
IntronicSNV |
- |
15/20 |
15-99475275-T-G |
IGF1R |
c.2956+1741T>G |
- |
IntronicSNV |
- |
15/20 |
15-75647964-G-C |
NEIL1 |
c.*589G>C |
- |
IntergenicSNV |
10/10 |
- |
19-7189375-T-C |
INSR |
c.653-4727A>G |
- |
IntronicSNV |
- |
2/21 |
17-33320143-T-G |
LIG3 |
c.1455+432T>G |
- |
IntronicSNV |
- |
8/19 |
15-65108504-A-G |
PIF1 |
c.1919T>C |
p.Ile640Thr |
Missense |
13/13 |
- |
15-99505062-C-A |
IGF1R |
c.*4391C>A |
- |
3-UTRSNV |
21/21 |
- |
5-177422058-G-C |
PROP1 |
c.110-719C>G |
- |
IntronicSNV |
- |
1/2 |
15-99454031-C-A |
IGF1R |
c.1463-513C>A |
- |
IntronicSNV |
- |
6/20 |
8-48858933-A-T |
PRKDC |
c.722-2344T>A |
- |
IntronicSNV |
- |
7/85 |
15-91287412-A-G |
BLM |
c.1-3211A>G |
- |
IntronicSNV |
- |
1/21 |
19-7150418-C-G |
INSR |
c.2267+90G>C |
- |
IntronicSNV |
- |
11/21 |
13-103523312-C-T |
ERCC5 |
c.2679-1236C>T |
- |
IntronicSNV |
- |
12/14 |
10-70947758-T-C |
SUPV3L1 |
c.572+246T>C |
- |
IntronicSNV |
- |
4/14 |
5-80101773-T-A |
MSH3 |
c.2656-7630T>A |
- |
IntronicSNV |
- |
19/23 |
5-80101773-T-C |
MSH3 |
c.2656-7630T>C |
- |
IntronicSNV |
- |
19/23 |
10-50667105-T-C |
ERCC6 |
c.4238A>G |
p.Gln1413Arg |
Missense |
21/21 |
- |
17-61569732-G-A |
ACE |
c.2912+990G>A |
- |
IntronicSNV |
- |
19/24 |
8-30921935-G-A |
WRN |
c.340G>A |
p.Val114Ile |
Missense |
4/35 |
- |
12-133226831-C-T |
POLE |
c.3583-356G>A |
- |
IntronicSNV |
- |
29/48 |
12-133216617-A-G |
POLE |
c.5379-733T>C |
- |
IntronicSNV |
- |
39/48 |
17-1778272-G-A |
RPA1 |
c.455-683G>A |
- |
IntronicSNV |
- |
6/16 |
11-108177097-T-A |
ATM |
c.5674+1518T>A |
- |
IntronicSNV |
- |
37/62 |
9-119148669-A-G |
PAPPA |
c.4776+3897A>G |
- |
IntronicSNV |
- |
21/21 |
2-217505337-T-C |
IGFBP2 |
c.442+6649T>C |
- |
IntronicSNV |
- |
1/3 |
2-217046319-T-A |
XRCC5 |
c.1835-8629T>A |
- |
IntronicSNV |
- |
16/20 |
9-119148669-A-C |
PAPPA |
c.4776+3897A>C |
- |
IntronicSNV |
- |
21/21 |
5-42569642-C-A |
GHR |
c.70+3596C>A |
- |
IntronicSNV |
- |
2/9 |
13-103521675-G-A |
ERCC5 |
c.2678+1068G>A |
- |
IntronicSNV |
- |
12/14 |
2-217525243-T-C |
IGFBP2 |
c.443-37T>C |
- |
IntronicSNV |
- |
1/3 |