PMID: 23565320

DNA repair genotype and lung cancer risk in the beta-carotene and retinol efficacy trial.

International journal of molecular epidemiology and genetics
JA Doherty, LC Sakoda, MM Loomis, MJ Barnett, L Julianto, MD Thornquist, ML Neuhouser, NS Weiss, GE Goodman, C Chen
2013

192 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-11641871-T-A NEIL2 c.688+963T>A - IntronicSNV - 4/4
8-11641871-T-C NEIL2 c.688+963T>C - IntronicSNV - 4/4
20-5099516-G-A PCNA c.222-4C>T - IntronicSNV - 2/6
2-47672569-G-C MSH2 c.1277-118G>C - IntronicSNV - 7/15
19-44056412-C-G XRCC1 c.839G>C p.Arg280Pro Missense 9/17 -
18-51820805-G-A POLI c.2191G>A p.Ala731Thr Missense 10/10 -
2-47646968-C-T MSH2 c.1076+3400C>T - IntronicSNV - 6/15
14-104182998-C-T ZFYVE21 c.138+682C>T - IntronicSNV - 1/6
8-11636862-T-C NEIL2 c.139-245T>C - IntronicSNV - 2/4
18-51810824-C-T POLI c.1067+441C>T - IntronicSNV - 7/9
1-76264788-T-C MSH4 c.244+1874T>C - IntronicSNV - 1/19
8-11638361-T-G NEIL2 c.491+902T>G - IntronicSNV - 3/4
19-45882962-T-A PPP1R13L c.*486A>T - 3-UTRSNV 13/13 -
12-109547060-A-T UNG c.802-574A>T - IntronicSNV - 6/6
6-31726688-C-A MSH5 c.1326+36C>A - IntronicSNV - 15/24
14-20924434-T-C APEX1 c.246+174T>C - IntronicSNV - 3/4
12-104365690-C-T TDG c.24-5006C>T - IntronicSNV - 1/9
1-76269460-G-A MSH4 c.289G>A p.Ala97Thr Missense 2/20 -
3-129160988-G-A IFT122 c.41+1774G>A - IntronicSNV - 1/28
19-44074212-A-T XRCC1 c.144+4850T>A - IntronicSNV - 2/16
19-44074212-A-G XRCC1 c.144+4850T>C - IntronicSNV - 2/16
8-11629241-G-A NEIL2 c.138+147G>A - IntronicSNV - 2/4
1-76378502-G-A MSH4 c.2741G>A p.Ser914Asn Missense 20/20 -
2-47704027-G-C MSH2 c.2210+317G>C - IntronicSNV - 13/15
2-47666838-T-C MSH2 c.1277-5849T>C - IntronicSNV - 7/15
2-47666838-T-G MSH2 c.1277-5849T>G - IntronicSNV - 7/15
6-31717692-A-G MSH5 c.812+2483A>G - IntronicSNV - 10/24
15-75647964-G-C NEIL1 c.*589G>C - IntergenicSNV 10/10 -
14-20920840-A-T OSGEP c.116-233T>A - IntronicSNV - 1/10
17-33320143-T-G LIG3 c.1455+432T>G - IntronicSNV - 8/19
6-31729359-A-G MSH5 c.2148A>G p.Gln716Gln Synonymous 22/25 -
12-104379323-G-C TDG c.965-58G>C - IntronicSNV - 8/9
6-31717692-A-C MSH5 c.812+2483A>C - IntronicSNV - 10/24
14-20920840-A-G OSGEP c.116-233T>C - IntronicSNV - 1/10
14-104174123-T-C XRCC3 c.194-571A>G - IntronicSNV - 5/9
8-42225016-A-C POLB c.709-1773A>C - IntronicSNV - 11/13
16-2087562-G-A SLC9A3R2 c.816G>A p.Ser272Ser Synonymous 6/7 -
12-109541171-T-C UNG c.623-67T>C - IntronicSNV - 5/6
8-42226805-C-G POLB c.725C>G p.Pro242Arg Missense 12/14 -
2-47703500-T-G MSH2 c.2006-6T>G - IntronicSNV - 12/15
6-31707730-T-C MSH5 c.-281T>C - 5_prime_UTR_variant 1/25 -
6-31731881-C-T SAPCD1 c.296C>T p.Pro99Leu Missense 3/5 -
8-11643972-T-C NEIL2 c.*190T>C - 3-UTRSNV 5/5 -
2-47693788-A-T MSH2 c.1511-9A>T - IntronicSNV - 9/15
19-44074597-T-G XRCC1 c.144+4465A>C - IntronicSNV - 2/16
19-50362201-T-A PTOV1 c.1041+291T>A - IntronicSNV - 10/12
12-104371367-G-A TDG c.166+529G>A - IntronicSNV - 2/9
12-54575458-T-C SMUG1 c.*422A>G - 3-UTRSNV 4/4 -
8-11644821-C-T NEIL2 c.*1039C>T - 3-UTRSNV 5/5 -
16-136888-T-A NPRL3 c.1005-19A>T - intron_variant - 11/11
16-136888-T-C NPRL3 c.1005-19A>G - intron_variant - 11/11
12-104375838-T-C TDG c.479-739T>C - IntronicSNV - 4/9
1-76333163-T-C MSH4 c.1231-36T>C - IntronicSNV - 8/19
1-76333163-T-G MSH4 c.1231-36T>G - IntronicSNV - 8/19
12-104372656-A-G TDG c.167-953A>G - IntronicSNV - 2/9
1-76313874-C-A MSH4 c.1163-20C>A - IntronicSNV - 7/19
1-45800156-C-T MUTYH c.64G>A p.Val22Met Missense 2/16 -
1-45800156-C-A MUTYH c.64G>T p.Val22Leu Missense 2/16 -
12-104369046-A-G TDG c.24-1650A>G - IntronicSNV - 1/9
8-11629809-C-G NEIL2 c.138+715C>G - IntronicSNV - 2/4
17-33331575-C-T LIG3 c.*50C>T - 3-UTRSNV 20/20 -
12-104370442-G-A TDG c.24-254G>A - IntronicSNV - 1/9
19-44060653-G-A XRCC1 c.256-1697C>T - IntronicSNV - 3/16
2-47703241-A-G MSH2 c.2006-265A>G - IntronicSNV - 12/15
3-129151170-C-T MBD4 c.1665+176G>A - IntronicSNV - 7/7
2-48023115-T-G MSH6 c.540T>G p.Asp180Glu Missense 3/10 -
2-48023115-T-C MSH6 c.540T>C p.Asp180Asp Synonymous 3/10 -
14-20925154-T-C APEX1 c.444T>C p.Asp148Asp Synonymous 5/5 -
19-50370066-C-T PNKP c.151+245G>A - IntronicSNV - 2/16
8-11635946-T-C NEIL2 c.139-1161T>C - IntronicSNV - 2/4
2-47703241-A-C MSH2 c.2006-265A>C - IntronicSNV - 12/15
2-47654844-G-T MSH2 c.1077-2037G>T - IntronicSNV - 6/15
6-31718602-G-A MSH5 c.813-2476G>A - IntronicSNV - 10/24
20-5114584-G-A CDS2 c.57+6789G>A - IntronicSNV - 1/12
12-104374442-A-G TDG c.409-229A>G - IntronicSNV - 3/9
3-9005078-C-T RAD18 c.1-9G>A - 5-UTRSNV 1/13 -
8-11628726-G-C NEIL2 c.1-231G>C - IntronicSNV - 1/4
16-133946-G-A MPG c.505+691G>A - IntronicSNV - 3/3
2-47643457-G-A MSH2 c.965G>A p.Gly322Asp Missense 6/16 -
6-31731014-C-G SAPCD1 c.114+69C>G - IntronicSNV - 1/4
18-51813534-A-C POLI c.1068-117A>C - IntronicSNV - 7/9
18-51813534-A-G POLI c.1068-117A>G - IntronicSNV - 7/9
8-42207234-T-A POLB c.262-291T>A - IntronicSNV - 4/13
19-44075636-G-A XRCC1 c.144+3426C>T - IntronicSNV - 2/16
14-104179267-T-C XRCC3 c.-316A>G - splice_region_variant,5_prime_UTR_variant 2/10 -
1-45803413-A-G MUTYH c.36+2478T>C - IntronicSNV - 1/15
2-47709704-T-C MSH2 c.2635-214T>C - IntronicSNV - 15/15
19-44060653-G-C XRCC1 c.256-1697C>G - IntronicSNV - 3/16
3-8941594-G-C RAD18 c.1169-863C>G - IntronicSNV - 10/12
19-44064865-C-G XRCC1 c.255+197G>C - IntronicSNV - 3/16
14-104168863-C-T XRCC3 c.561+647G>A - IntronicSNV - 7/9
1-45797505-C-A MUTYH c.1005G>T p.Gln335His Missense 12/16 -
1-45797505-C-G MUTYH c.1005G>C p.Gln335His Missense 12/16 -
2-47704027-G-A MSH2 c.2210+317G>A - IntronicSNV - 13/15
2-47709153-G-A MSH2 c.2635-765G>A - IntronicSNV - 15/15
2-47643457-G-T MSH2 c.965G>T p.Gly322Val Missense 6/16 -
3-8955389-C-T RAD18 c.905G>A p.Arg302Gln Missense 8/13 -
12-109535857-T-G UNG c.132+241T>G - IntronicSNV - 1/6
2-48019485-T-C MSH6 c.457+1223T>C - IntronicSNV - 2/9
6-31731881-C-G SAPCD1 c.296C>G p.Pro99Arg Missense 3/5 -
8-11638878-C-G NEIL2 c.491+1419C>G - IntronicSNV - 3/4
19-44077507-G-A XRCC1 c.144+1555C>T - IntronicSNV - 2/16
1-76358352-T-A MSH4 c.2355+1843T>A - IntronicSNV - 17/19
1-76313874-C-T MSH4 c.1163-20C>T - IntronicSNV - 7/19
16-2089006-G-C SLC9A3R2 c.*1021G>C - 3-UTRSNV 7/7 -
2-47689920-G-A MSH2 c.1387-250G>A - IntronicSNV - 8/15
12-104371225-C-T TDG c.166+387C>T - IntronicSNV - 2/9
8-11641407-C-T NEIL2 c.688+499C>T - IntronicSNV - 4/4
3-9809082-T-C CAMK1 c.83+269A>G - IntronicSNV - 2/11
12-109535857-T-A UNG c.132+241T>A - IntronicSNV - 1/6
8-11628129-A-C NEIL2 c.-3+285A>C - intron_variant - 1/4
16-2088585-A-G SLC9A3R2 c.*600A>G - 3-UTRSNV 7/7 -
2-48025764-C-G MSH6 c.642C>G p.Tyr214* Nonsense 4/10 -
2-48025764-C-A MSH6 c.642C>A p.Tyr214* Nonsense 4/10 -
2-48025764-C-T MSH6 c.642C>T p.Tyr214Tyr Synonymous 4/10 -
19-45882962-T-G PPP1R13L c.*486A>C - 3-UTRSNV 13/13 -
12-54581614-T-C SMUG1 c.-31A>G - 5_prime_UTR_variant 2/4 -
16-2087460-G-T SLC9A3R2 c.793-79G>T - IntronicSNV - 5/6
1-76354080-C-T MSH4 c.2108-856C>T - IntronicSNV - 15/19
3-8940871-C-T RAD18 c.1169-140G>A - IntronicSNV - 10/12
18-51821500-G-C POLI c.*663G>C - 3-UTRSNV 10/10 -
20-5099636-G-A PCNA c.222-124C>T - IntronicSNV - 2/6
8-11643803-C-A NEIL2 c.*21C>A - 3-UTRSNV 5/5 -
3-37044489-A-T MLH1 c.307-1403A>T - IntronicSNV - 3/18
2-48024876-C-T MSH6 c.628-874C>T - IntronicSNV - 3/9
8-11628162-G-T NEIL2 c.-3+318G>T - intron_variant - 1/4
14-20925154-T-G APEX1 c.444T>G p.Asp148Glu Missense 5/5 -
3-37034946-G-A MLH1 c.1-93G>A - 5-UTRSNV 1/19 -
14-20925154-T-A APEX1 c.444T>A p.Asp148Glu Missense 5/5 -
12-109547060-A-G UNG c.802-574A>G - IntronicSNV - 6/6
2-47657684-G-A MSH2 c.1276+604G>A - IntronicSNV - 7/15
3-8939203-G-A RAD18 c.1322+1375C>T - IntronicSNV - 11/12
16-2089006-G-A SLC9A3R2 c.*1021G>A - 3-UTRSNV 7/7 -
2-47672569-G-A MSH2 c.1277-118G>A - IntronicSNV - 7/15
12-109562280-G-A ACACB c.-10+7771G>A - intron_variant - 1/52
12-109562280-G-T ACACB c.-10+7771G>T - intron_variant - 1/52
8-11629367-A-G NEIL2 c.138+273A>G - IntronicSNV - 2/4
14-104170465-G-A XRCC3 c.407-801C>T - IntronicSNV - 6/9
14-104166994-C-T XRCC3 c.562-1081G>A - IntronicSNV - 7/9
8-11629367-A-T NEIL2 c.138+273A>T - IntronicSNV - 2/4
2-47703500-T-C MSH2 c.2006-6T>C - IntronicSNV - 12/15
2-47703500-T-A MSH2 c.2006-6T>A - IntronicSNV - 12/15
1-45798555-T-C MUTYH c.495+35A>G - IntronicSNV - 6/15
3-9803627-A-G CAMK1 c.430-186T>C - IntronicSNV - 5/11
7-152351462-C-G XRCC2 c.122-5014G>C - IntronicSNV - 2/2
15-75643759-G-T NEIL1 c.435-693G>T - IntronicSNV - 2/9
8-11643803-C-T NEIL2 c.*21C>T - 3-UTRSNV 5/5 -
8-42231786-G-A DKK4 c.507C>T p.Val169Val Synonymous 4/4 -
7-152363226-T-C XRCC2 c.40-5359A>G - IntronicSNV - 1/2
19-50372762-G-A AKT1S1 c.*412C>T - 3-UTRSNV 5/5 -
3-9003124-G-T RAD18 c.51+1895C>A - IntronicSNV - 1/12
12-104363610-C-T TDG c.23+3772C>T - IntronicSNV - 1/9
19-44055898-C-G XRCC1 c.1083-59G>C - IntronicSNV - 9/16
8-11634194-T-A NEIL2 c.139-2913T>A - IntronicSNV - 2/4
17-33310892-A-C LIG3 c.547+321A>C - IntronicSNV - 2/19
8-11636884-T-G NEIL2 c.139-223T>G - IntronicSNV - 2/4
17-33326017-C-G LIG3 c.2113+271C>G - IntronicSNV - 14/19
19-50363175-A-G PTOV1 c.1042-68A>G - IntronicSNV - 10/12
1-76311291-C-T MSH4 c.1163-2603C>T - IntronicSNV - 7/19
1-76311291-C-A MSH4 c.1163-2603C>A - IntronicSNV - 7/19
12-104365511-G-A TDG c.24-5185G>A - IntronicSNV - 1/9
16-2097110-A-C NTHL1 c.115+600T>G - intron_variant - 1/5
18-51820209-T-C POLI c.1595T>C p.Phe532Ser Missense 10/10 -
19-45907960-A-G PPP1R13L c.-22+297T>C - intron_variant - 1/12
8-11635569-T-A NEIL2 c.139-1538T>A - IntronicSNV - 2/4
2-48012846-C-T MSH6 c.260+2214C>T - IntronicSNV - 1/9
19-44055898-C-T XRCC1 c.1083-59G>A - IntronicSNV - 9/16
20-5099988-T-C PCNA c.221+236A>G - IntronicSNV - 2/6
19-44062519-A-T XRCC1 c.255+2543T>A - IntronicSNV - 3/16
19-44062519-A-G XRCC1 c.255+2543T>C - IntronicSNV - 3/16
12-104365511-G-C TDG c.24-5185G>C - IntronicSNV - 1/9
2-48025694-C-T MSH6 c.628-56C>T - IntronicSNV - 3/9
7-152346007-C-T XRCC2 c.563G>A p.Arg188His Missense 3/3 -
7-152346007-C-G XRCC2 c.563G>C p.Arg188Pro Missense 3/3 -
6-31721033-G-A MSH5 c.813-45G>A - IntronicSNV - 10/24
6-31729925-C-T MSH5 c.2356C>T p.Pro786Ser Missense 24/25 -
16-2097158-G-A NTHL1 c.115+552C>T - intron_variant - 1/5
2-48018081-A-G MSH6 c.276A>G p.Pro92Pro Synonymous 2/10 -
19-50368853-C-T PNKP c.199-170G>A - IntronicSNV - 3/16
2-48035673-A-T FBXO11 c.2304-107T>A - IntronicSNV - 21/22
2-48035673-A-G FBXO11 c.2304-107T>C - IntronicSNV - 21/22
8-11635569-T-C NEIL2 c.139-1538T>C - IntronicSNV - 2/4
17-33330150-A-C LIG3 c.2796+342A>C - IntronicSNV - 19/19
3-129152089-G-C MBD4 c.1413C>G p.Gly471Gly Synonymous 6/8 -
3-129152089-G-A MBD4 c.1413C>T p.Gly471Gly Synonymous 6/8 -
3-8923840-C-T RAD18 c.1386-697G>A - IntronicSNV - 12/12
2-47645249-G-T MSH2 c.1076+1681G>T - IntronicSNV - 6/15
7-152367616-A-C XRCC2 c.39+5510T>G - IntronicSNV - 1/2
3-37094679-G-A LRRFIP2 c.*663C>T - 3-UTRSNV 28/28 -
7-152367616-A-T XRCC2 c.39+5510T>A - IntronicSNV - 1/2
3-9799113-A-G CAMK1 c.*110T>C - 3-UTRSNV 12/12 -
16-128954-C-T MPG c.25-470C>T - IntronicSNV - 1/3