PMID: 28045923

Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients.

PloS one
I Makhoul, VK Todorova, ER Siegel, SW Erickson, I Dhakal, VR Raj, JY Lee, MS Orloff, RJ Griffin, RS Henry-Tillman, S Klimberg, LF Hutchins, SA Kadlubar
2017

513 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-27192036-A-G TEK c.1490-451A>G - IntronicSNV - 10/22
6-43748350-G-A VEGFA c.963-119G>A - IntronicSNV - 5/7
8-6406572-C-A ANGPT2 c.288+13596G>T - IntronicSNV - 1/8
2-113535438-C-T IL1A c.615+126G>A - IntronicSNV - 6/6
8-108427493-G-T ANGPT1 c.298-68168C>A - IntronicSNV - 1/8
22-39623725-C-A PDGFB c.602-1873G>T - IntronicSNV - 5/6
4-123752017-T-C FGF2 c.577+3510T>C - IntronicSNV - 1/2
4-123752017-T-G FGF2 c.577+3510T>G - IntronicSNV - 1/2
8-6388306-A-T ANGPT2 c.444+1547T>A - IntronicSNV - 2/8
8-108409931-C-A ANGPT1 c.298-50606G>T - IntronicSNV - 1/8
8-108409931-C-G ANGPT1 c.298-50606G>C - IntronicSNV - 1/8
6-43742579-T-C VEGFA c.658+450T>C - IntronicSNV - 2/7
8-6388306-A-G ANGPT2 c.444+1547T>C - IntronicSNV - 2/8
8-108463840-C-G ANGPT1 c.297+45650G>C - IntronicSNV - 1/8
8-108372446-G-A ANGPT1 c.298-13121C>T - IntronicSNV - 1/8
8-108463840-C-A ANGPT1 c.297+45650G>T - IntronicSNV - 1/8
8-108463840-C-T ANGPT1 c.297+45650G>A - IntronicSNV - 1/8
8-6372112-G-A ANGPT2 c.1032+86C>T - IntronicSNV - 6/8
8-6369930-C-G ANGPT2 c.1199+1269G>C - IntronicSNV - 7/8
8-6416847-A-G ANGPT2 c.288+3321T>C - IntronicSNV - 1/8
8-6395909-G-A ANGPT2 c.289-5901C>T - IntronicSNV - 1/8
8-6395909-G-C ANGPT2 c.289-5901C>G - IntronicSNV - 1/8
9-27154617-A-G TEK c.53-3212A>G - IntronicSNV - 1/22
8-6395653-C-T ANGPT2 c.289-5645G>A - IntronicSNV - 1/8
8-108416439-A-C ANGPT1 c.298-57114T>G - IntronicSNV - 1/8
8-108400823-T-G ANGPT1 c.298-41498A>C - IntronicSNV - 1/8
8-108400823-T-C ANGPT1 c.298-41498A>G - IntronicSNV - 1/8
8-108341751-T-C ANGPT1 c.575+6627A>G - IntronicSNV - 3/8
9-27229141-T-C TEK c.3301-15T>C - IntronicSNV - 22/22
4-123818074-T-C FGF2 c.*4523T>C - 3-UTRSNV 3/3 -
8-108309253-G-A ANGPT1 c.937-2988C>T - IntronicSNV - 5/8
9-27185762-T-G TEK c.1327+135T>G - IntronicSNV - 9/22
9-27202663-G-A TEK c.1910-155G>A - IntronicSNV - 12/22
9-27202663-G-C TEK c.1910-155G>C - IntronicSNV - 12/22
8-6396241-A-G ANGPT2 c.289-6233T>C - IntronicSNV - 1/8
4-55964101-T-C KDR c.2510-168A>G - IntronicSNV - 17/29
4-123803370-C-T FGF2 c.681+5791C>T - IntronicSNV - 2/2
2-113534208-C-T IL1A c.615+1356G>A - IntronicSNV - 6/6
8-108466317-G-A ANGPT1 c.297+43173C>T - IntronicSNV - 1/8
9-27184714-G-A TEK c.1183-769G>A - IntronicSNV - 8/22
4-123797183-C-T FGF2 c.578-293C>T - IntronicSNV - 1/2
2-113539873-C-T IL1A c.96+420G>A - IntronicSNV - 3/6
8-6396241-A-T ANGPT2 c.289-6233T>A - IntronicSNV - 1/8
9-27202870-A-G TEK c.1962A>G p.Ser654Ser Synonymous 13/23 -
22-39629096-C-T PDGFB c.250+344G>A - IntronicSNV - 3/6
9-27199373-G-A TEK c.1909+1776G>A - IntronicSNV - 12/22
6-43753212-A-G VEGFA c.*913A>G - 3-UTRSNV 8/8 -
8-108466317-G-T ANGPT1 c.297+43173C>A - IntronicSNV - 1/8
20-44645010-C-T MMP9 c.*3C>T - 3-UTRSNV 13/13 -
8-108383325-G-A ANGPT1 c.298-24000C>T - IntronicSNV - 1/8
8-6371476-C-G ANGPT2 c.1033-111G>C - IntronicSNV - 6/8
6-43750551-C-G VEGFA c.1217+727C>G - IntronicSNV - 7/7
8-6377433-C-T ANGPT2 c.882G>A p.Thr294Thr Synonymous 5/9 -
9-27228022-A-G TEK c.3201-182A>G - IntronicSNV - 21/22
4-55970101-A-T KDR c.1987+709T>A - IntronicSNV - 13/29
20-44642532-T-C MMP9 c.1750+97T>C - IntronicSNV - 10/12
4-55982752-C-T KDR c.359-1174G>A - IntronicSNV - 3/29
8-6377433-C-G ANGPT2 c.882G>C p.Thr294Thr Synonymous 5/9 -
8-108314971-T-G ANGPT1 c.936+497A>C - IntronicSNV - 5/8
8-108377901-A-G ANGPT1 c.298-18576T>C - IntronicSNV - 1/8
2-113540177-C-T IL1A c.96+116G>A - IntronicSNV - 3/6
8-108327348-T-C ANGPT1 c.808+6776A>G - IntronicSNV - 4/8
8-108342263-A-T ANGPT1 c.575+6115T>A - IntronicSNV - 3/8
4-123764791-A-G FGF2 c.577+16284A>G - IntronicSNV - 1/2
6-43742579-T-G VEGFA c.658+450T>G - IntronicSNV - 2/7
9-27229786-G-A TEK c.*556G>A - 3-UTRSNV 23/23 -
9-27116823-T-C TEK c.52+7183T>C - IntronicSNV - 1/22
9-27124745-A-C TEK c.52+15105A>C - IntronicSNV - 1/22
9-27124745-A-T TEK c.52+15105A>T - IntronicSNV - 1/22
4-55975705-G-A KDR c.1255+865C>T - IntronicSNV - 9/29
9-27229786-G-C TEK c.*556G>C - 3-UTRSNV 23/23 -
9-27153874-G-A TEK c.53-3955G>A - IntronicSNV - 1/22
4-55955232-T-A KDR c.3405-92A>T - IntronicSNV - 25/29
4-123757988-C-T FGF2 c.577+9481C>T - IntronicSNV - 1/2
4-55955232-T-C KDR c.3405-92A>G - IntronicSNV - 25/29
9-27205021-G-A TEK c.2322G>A p.Arg774Arg Synonymous 14/23 -
8-108326351-A-G ANGPT1 c.808+7773T>C - IntronicSNV - 4/8
8-6359480-T-A ANGPT2 c.*1142A>T - 3-UTRSNV 9/9 -
9-27193847-A-G TEK c.1624+1226A>G - IntronicSNV - 11/22
9-27147836-T-C TEK c.53-9993T>C - IntronicSNV - 1/22
8-108424451-A-G ANGPT1 c.298-65126T>C - IntronicSNV - 1/8
8-108459674-T-C ANGPT1 c.297+49816A>G - IntronicSNV - 1/8
6-43748439-T-G VEGFA c.963-30T>G - IntronicSNV - 5/7
6-43748439-T-C VEGFA c.963-30T>C - IntronicSNV - 5/7
8-108378623-C-A ANGPT1 c.298-19298G>T - IntronicSNV - 1/8
8-6417876-C-A ANGPT2 c.288+2292G>T - IntronicSNV - 1/8
9-27173180-C-T TEK c.761-40C>T - IntronicSNV - 5/22
8-6369896-G-A ANGPT2 c.1199+1303C>T - IntronicSNV - 7/8
8-6417876-C-T ANGPT2 c.288+2292G>A - IntronicSNV - 1/8
8-108408409-A-C ANGPT1 c.298-49084T>G - IntronicSNV - 1/8
9-27152292-C-T TEK c.53-5537C>T - IntronicSNV - 1/22
8-108447543-A-G ANGPT1 c.297+61947T>C - IntronicSNV - 1/8
8-6394876-T-G ANGPT2 c.289-4868A>C - IntronicSNV - 1/8
9-27155544-C-T TEK c.53-2285C>T - IntronicSNV - 1/22
4-123813655-A-G FGF2 c.*104A>G - 3-UTRSNV 3/3 -
8-108484298-T-C ANGPT1 c.297+25192A>G - IntronicSNV - 1/8
8-108457353-A-G ANGPT1 c.297+52137T>C - IntronicSNV - 1/8
8-6390530-A-G ANGPT2 c.289-522T>C - IntronicSNV - 1/8
9-27152292-C-G TEK c.53-5537C>G - IntronicSNV - 1/22
9-27217947-T-G TEK c.3062+191T>G - IntronicSNV - 19/22
8-108287577-T-G ANGPT1 c.1205+9333A>C - IntronicSNV - 7/8
9-27144516-C-T TEK c.53-13313C>T - IntronicSNV - 1/22
8-108499883-A-G ANGPT1 c.297+9607T>C - IntronicSNV - 1/8
4-123798993-A-C FGF2 c.681+1414A>C - IntronicSNV - 2/2
8-6361229-A-C ANGPT2 c.1331-447T>G - IntronicSNV - 8/8
8-108458582-T-A ANGPT1 c.297+50908A>T - IntronicSNV - 1/8
4-123816707-T-G FGF2 c.*3156T>G - 3-UTRSNV 3/3 -
9-27166159-T-C TEK c.365-2334T>C - IntronicSNV - 2/22
9-27190992-C-T TEK c.1489+304C>T - IntronicSNV - 10/22
8-6414091-A-G ANGPT2 c.288+6077T>C - IntronicSNV - 1/8
17-62400000-G-C PECAM1 c.*1176C>G - 3-UTRSNV 3/3 -
6-43746423-A-G VEGFA c.932+150A>G - IntronicSNV - 4/7
8-6389216-T-G ANGPT2 c.444+637A>C - IntronicSNV - 2/8
4-123799987-A-T FGF2 c.681+2408A>T - IntronicSNV - 2/2
6-43743507-C-T VEGFA c.658+1378C>T - IntronicSNV - 2/7
8-6413948-A-G ANGPT2 c.288+6220T>C - IntronicSNV - 1/8
22-39633622-C-T PDGFB c.64-1743G>A - IntronicSNV - 1/6
9-27219058-G-A TEK c.3103+243G>A - IntronicSNV - 20/22
4-55947338-T-C KDR c.3848+785A>G - IntronicSNV - 29/29
4-123799987-A-G FGF2 c.681+2408A>G - IntronicSNV - 2/2
9-27169124-A-G TEK c.476-351A>G - IntronicSNV - 3/22
9-27169124-A-T TEK c.476-351A>T - IntronicSNV - 3/22
20-44640391-C-T MMP9 c.997+5C>T - IntronicSNV - 6/12
8-6374773-T-C ANGPT2 c.931-2474A>G - IntronicSNV - 5/8
8-108452794-T-C ANGPT1 c.297+56696A>G - IntronicSNV - 1/8
8-6397970-C-G ANGPT2 c.289-7962G>C - IntronicSNV - 1/8
4-123767943-G-A FGF2 c.577+19436G>A - IntronicSNV - 1/2
4-123788495-T-C FGF2 c.578-8981T>C - IntronicSNV - 1/2
8-108389150-A-G ANGPT1 c.298-29825T>C - IntronicSNV - 1/8
8-6397970-C-T ANGPT2 c.289-7962G>A - IntronicSNV - 1/8
2-113532647-C-A IL1A c.813G>T p.Ala271Ala Synonymous 7/7 -
9-27209469-A-C TEK c.2686+240A>C - IntronicSNV - 16/22
8-108378411-C-T ANGPT1 c.298-19086G>A - IntronicSNV - 1/8
6-43751359-C-T VEGFA c.1218-919C>T - IntronicSNV - 7/7
8-108270037-C-A ANGPT1 c.1337-5794G>T - IntronicSNV - 8/8
8-108401601-G-T ANGPT1 c.298-42276C>A - IntronicSNV - 1/8
8-6398327-A-G ANGPT2 c.289-8319T>C - IntronicSNV - 1/8
8-108401601-G-C ANGPT1 c.298-42276C>G - IntronicSNV - 1/8
8-6395909-G-T ANGPT2 c.289-5901C>A - IntronicSNV - 1/8
9-27168433-A-G TEK c.365-60A>G - IntronicSNV - 2/22
8-6396986-G-T ANGPT2 c.289-6978C>A - IntronicSNV - 1/8
9-27218053-T-C TEK c.3062+297T>C - IntronicSNV - 19/22
20-44644709-G-A MMP9 c.2006-180G>A - IntronicSNV - 12/12
8-6396986-G-C ANGPT2 c.289-6978C>G - IntronicSNV - 1/8
8-6368776-C-T ANGPT2 c.1200-2193G>A - IntronicSNV - 7/8
4-123773579-T-G FGF2 c.578-23897T>G - IntronicSNV - 1/2
8-108398406-A-C ANGPT1 c.298-39081T>G - IntronicSNV - 1/8
8-108398406-A-G ANGPT1 c.298-39081T>C - IntronicSNV - 1/8
9-27118807-A-G TEK c.52+9167A>G - IntronicSNV - 1/22
6-43744621-C-T VEGFA c.659-585C>T - IntronicSNV - 2/7
8-6396358-A-G ANGPT2 c.289-6350T>C - IntronicSNV - 1/8
8-108437679-C-A ANGPT1 c.297+71811G>T - IntronicSNV - 1/8
4-123748086-C-T FGF2 c.156C>T p.Ser52Ser Synonymous 1/3 -
22-39631547-T-C PDGFB c.160+236A>G - IntronicSNV - 2/6
22-39631547-T-G PDGFB c.160+236A>C - IntronicSNV - 2/6
2-113541382-C-T IL1A c.1-35G>A - IntronicSNV - 1/6
4-55967483-A-C KDR c.2266+581T>G - IntronicSNV - 15/29
9-27196290-A-G TEK c.1625-1023A>G - IntronicSNV - 11/22
9-27196290-A-T TEK c.1625-1023A>T - IntronicSNV - 11/22
8-108438906-C-T ANGPT1 c.297+70584G>A - IntronicSNV - 1/8
8-6368222-G-A ANGPT2 c.1200-1639C>T - IntronicSNV - 7/8
22-39629609-G-A PDGFB c.161-80C>T - IntronicSNV - 2/6
9-27200738-C-A TEK c.1910-2080C>A - IntronicSNV - 12/22
8-108462641-G-A ANGPT1 c.297+46849C>T - IntronicSNV - 1/8
4-123779341-T-C FGF2 c.578-18135T>C - IntronicSNV - 1/2
8-108383641-T-C ANGPT1 c.298-24316A>G - IntronicSNV - 1/8
8-6386824-A-C ANGPT2 c.445-1627T>G - IntronicSNV - 2/8
9-27163395-A-G TEK c.365-5098A>G - IntronicSNV - 2/22
9-27182802-T-C TEK c.1031-655T>C - IntronicSNV - 7/22
8-108360046-C-T ANGPT1 c.298-721G>A - IntronicSNV - 1/8
8-108360046-C-G ANGPT1 c.298-721G>C - IntronicSNV - 1/8
17-62400000-G-A PECAM1 c.*1176C>T - 3-UTRSNV 3/3 -
20-44643592-A-G MMP9 c.2005+479A>G - IntronicSNV - 12/12
20-44643770-A-G MMP9 c.2005+657A>G - IntronicSNV - 12/12
4-123752347-A-G FGF2 c.577+3840A>G - IntronicSNV - 1/2
8-108392928-A-G ANGPT1 c.298-33603T>C - IntronicSNV - 1/8
8-108278616-C-A ANGPT1 c.1206-2037G>T - IntronicSNV - 7/8
8-108315277-T-G ANGPT1 c.936+191A>C - IntronicSNV - 5/8
8-108315277-T-A ANGPT1 c.936+191A>T - IntronicSNV - 5/8
4-123810328-T-C FGF2 c.682-3038T>C - IntronicSNV - 2/2
9-27208857-G-T TEK c.2576-262G>T - IntronicSNV - 15/22
17-62398568-G-A PECAM1 c.*2608C>T - 3-UTRSNV 3/3 -
8-108363596-G-A ANGPT1 c.298-4271C>T - IntronicSNV - 1/8
4-123800617-A-G FGF2 c.681+3038A>G - IntronicSNV - 2/2
8-108273016-T-A ANGPT1 c.1336+3433A>T - IntronicSNV - 8/8
8-108273016-T-G ANGPT1 c.1336+3433A>C - IntronicSNV - 8/8
6-43747577-T-G VEGFA c.963-892T>G - IntronicSNV - 5/7
9-27196119-T-G TEK c.1625-1194T>G - IntronicSNV - 11/22
6-43747577-T-C VEGFA c.963-892T>C - IntronicSNV - 5/7
8-108377347-A-T ANGPT1 c.298-18022T>A - IntronicSNV - 1/8
8-108377347-A-G ANGPT1 c.298-18022T>C - IntronicSNV - 1/8
9-27137242-C-T TEK c.53-20587C>T - IntronicSNV - 1/22
9-27226947-G-T TEK c.3201-1257G>T - IntronicSNV - 21/22
4-55953483-G-A KDR c.3662+291C>T - IntronicSNV - 27/29
9-27144863-A-G TEK c.53-12966A>G - IntronicSNV - 1/22
9-27173062-G-T TEK c.761-158G>T - IntronicSNV - 5/22
9-27176554-C-T TEK c.901+3194C>T - IntronicSNV - 6/22
22-39633749-T-C PDGFB c.64-1870A>G - IntronicSNV - 1/6
9-27212966-T-C TEK c.2877+71T>C - IntronicSNV - 17/22
8-108434677-A-C ANGPT1 c.297+74813T>G - IntronicSNV - 1/8
8-108458582-T-C ANGPT1 c.297+50908A>G - IntronicSNV - 1/8
8-6403006-A-C ANGPT2 c.289-12998T>G - IntronicSNV - 1/8
9-27153536-A-G TEK c.53-4293A>G - IntronicSNV - 1/22
8-108445984-T-C ANGPT1 c.297+63506A>G - IntronicSNV - 1/8
8-108445984-T-A ANGPT1 c.297+63506A>T - IntronicSNV - 1/8
2-113532647-C-T IL1A c.813G>A p.Ala271Ala Synonymous 7/7 -
8-108401601-G-A ANGPT1 c.298-42276C>T - IntronicSNV - 1/8
4-123771828-C-T FGF2 c.577+23321C>T - IntronicSNV - 1/2
9-27203625-T-C TEK c.2209+508T>C - IntronicSNV - 13/22
8-6388640-C-T ANGPT2 c.444+1213G>A - IntronicSNV - 2/8
8-6386286-A-G ANGPT2 c.445-1089T>C - IntronicSNV - 2/8
4-55985815-C-T KDR c.162-848G>A - IntronicSNV - 2/29
9-27172838-C-A TEK c.760+93C>A - IntronicSNV - 5/22
4-123814900-G-A FGF2 c.*1349G>A - 3-UTRSNV 3/3 -
8-6386204-C-T ANGPT2 c.445-1007G>A - IntronicSNV - 2/8
9-27172838-C-T TEK c.760+93C>T - IntronicSNV - 5/22
9-27199373-G-C TEK c.1909+1776G>C - IntronicSNV - 12/22
22-39629329-C-T PDGFB c.250+111G>A - IntronicSNV - 3/6
22-39629329-C-A PDGFB c.250+111G>T - IntronicSNV - 3/6
17-62400602-C-T PECAM1 c.*574G>A - 3-UTRSNV 3/3 -
8-6364922-T-C ANGPT2 c.1330+1531A>G - IntronicSNV - 8/8
17-62400602-C-A PECAM1 c.*574G>T - 3-UTRSNV 3/3 -
8-108403482-C-A ANGPT1 c.298-44157G>T - IntronicSNV - 1/8
4-55980239-C-T KDR c.798+54G>A - IntronicSNV - 6/29
4-55979558-C-T KDR c.889G>A p.Val297Ile Missense 7/30 -
9-27190890-C-T TEK c.1489+202C>T - IntronicSNV - 10/22
9-27190890-C-A TEK c.1489+202C>A - IntronicSNV - 10/22
8-108301798-G-T ANGPT1 c.1038+4366C>A - IntronicSNV - 6/8
4-55979558-C-A KDR c.889G>T p.Val297Leu Missense 7/30 -
22-39624238-C-T PDGFB c.601+1851G>A - IntronicSNV - 5/6
20-44640225-A-G MMP9 c.836A>G p.Gln279Arg Missense 6/13 -
9-27135962-C-T TEK c.53-21867C>T - IntronicSNV - 1/22
9-27153866-T-C TEK c.53-3963T>C - IntronicSNV - 1/22
8-108476951-T-C ANGPT1 c.297+32539A>G - IntronicSNV - 1/8
8-6394494-A-G ANGPT2 c.289-4486T>C - IntronicSNV - 1/8
8-6386250-T-C ANGPT2 c.445-1053A>G - IntronicSNV - 2/8
4-123774832-G-A FGF2 c.578-22644G>A - IntronicSNV - 1/2
8-6404947-C-T ANGPT2 c.289-14939G>A - IntronicSNV - 1/8
8-6358293-T-C ANGPT2 c.*2329A>G - 3-UTRSNV 9/9 -
9-27217992-T-C TEK c.3062+236T>C - IntronicSNV - 19/22
9-27217992-T-A TEK c.3062+236T>A - IntronicSNV - 19/22
9-27217992-T-G TEK c.3062+236T>G - IntronicSNV - 19/22
4-55978210-C-T KDR c.976+1261G>A - IntronicSNV - 7/29
8-108292664-G-A ANGPT1 c.1205+4246C>T - IntronicSNV - 7/8
8-108272861-T-C ANGPT1 c.1336+3588A>G - IntronicSNV - 8/8
9-27134868-G-A TEK c.53-22961G>A - IntronicSNV - 1/22
8-6396182-A-C ANGPT2 c.289-6174T>G - IntronicSNV - 1/8
8-6360186-T-G ANGPT2 c.*436A>C - 3-UTRSNV 9/9 -
8-108502688-T-C ANGPT1 c.297+6802A>G - IntronicSNV - 1/8
4-123814308-C-T FGF2 c.*757C>T - 3-UTRSNV 3/3 -
9-27197282-T-G TEK c.1625-31T>G - IntronicSNV - 11/22
9-27152724-C-A TEK c.53-5105C>A - IntronicSNV - 1/22
20-44644965-G-A MMP9 c.2082G>A p.Val694Val Synonymous 13/13 -
6-43745107-G-A VEGFA c.659-99G>A - IntronicSNV - 2/7
22-39622940-T-C PDGFB c.602-1088A>G - IntronicSNV - 5/6
6-43745095-C-A VEGFA c.659-111C>A - IntronicSNV - 2/7
8-108446403-A-G ANGPT1 c.297+63087T>C - IntronicSNV - 1/8
9-27220094-C-T TEK c.3151C>T p.Leu1051Leu Synonymous 21/23 -
9-27135831-C-T TEK c.53-21998C>T - IntronicSNV - 1/22
4-123787079-G-A FGF2 c.578-10397G>A - IntronicSNV - 1/2
9-27151706-G-A TEK c.53-6123G>A - IntronicSNV - 1/22
9-27138898-C-T TEK c.53-18931C>T - IntronicSNV - 1/22
8-108489996-A-C ANGPT1 c.297+19494T>G - IntronicSNV - 1/8
9-27132514-T-C TEK c.52+22874T>C - IntronicSNV - 1/22
20-44640575-A-G MMP9 c.997+189A>G - IntronicSNV - 6/12
8-108378945-G-A ANGPT1 c.298-19620C>T - IntronicSNV - 1/8
8-108440057-G-A ANGPT1 c.297+69433C>T - IntronicSNV - 1/8
8-108485912-T-C ANGPT1 c.297+23578A>G - IntronicSNV - 1/8
8-108463603-C-T ANGPT1 c.297+45887G>A - IntronicSNV - 1/8
9-27190655-G-A TEK c.1456G>A p.Val486Ile Missense 10/23 -
8-108287752-C-T ANGPT1 c.1205+9158G>A - IntronicSNV - 7/8
9-27179075-A-G TEK c.902-1163A>G - IntronicSNV - 6/22
6-43742527-G-A VEGFA c.658+398G>A - IntronicSNV - 2/7
4-123748086-C-G FGF2 c.156C>G p.Ser52Ser Synonymous 1/3 -
8-108416439-A-G ANGPT1 c.298-57114T>C - IntronicSNV - 1/8
8-108334662-C-T ANGPT1 c.576-306G>A - IntronicSNV - 3/8
8-108283945-A-G ANGPT1 c.1206-7366T>C - IntronicSNV - 7/8
9-27201968-A-G TEK c.1910-850A>G - IntronicSNV - 12/22
6-43747378-G-A VEGFA c.962+723G>A - IntronicSNV - 5/7
8-6390751-T-C ANGPT2 c.289-743A>G - IntronicSNV - 1/8
4-55976651-C-T KDR c.1174G>A p.Asp392Asn Missense 9/30 -
9-27214719-A-G TEK c.2991+1124A>G - IntronicSNV - 18/22
6-43753325-G-A VEGFA c.*1026G>A - 3-UTRSNV 8/8 -
9-27164846-T-C TEK c.365-3647T>C - IntronicSNV - 2/22
8-6371476-C-T ANGPT2 c.1033-111G>A - IntronicSNV - 6/8
9-27187422-G-T TEK c.1327+1795G>T - IntronicSNV - 9/22
6-43741451-G-T VEGFA c.607-627G>T - IntronicSNV - 1/7
9-27164846-T-G TEK c.365-3647T>G - IntronicSNV - 2/22
9-27151394-G-A TEK c.53-6435G>A - IntronicSNV - 1/22
8-108354035-A-G ANGPT1 c.453+5135T>C - IntronicSNV - 2/8
2-113539246-C-T IL1A c.254G>A p.Arg85Gln Missense 4/7 -
8-108392928-A-T ANGPT1 c.298-33603T>A - IntronicSNV - 1/8
8-108445220-T-C ANGPT1 c.297+64270A>G - IntronicSNV - 1/8
8-108445220-T-A ANGPT1 c.297+64270A>T - IntronicSNV - 1/8
8-6396341-C-T ANGPT2 c.289-6333G>A - IntronicSNV - 1/8
9-27201830-A-T TEK c.1910-988A>T - IntronicSNV - 12/22
9-27151645-G-A TEK c.53-6184G>A - IntronicSNV - 1/22
8-108439898-C-A ANGPT1 c.297+69592G>T - IntronicSNV - 1/8
8-108307337-G-A ANGPT1 c.937-1072C>T - IntronicSNV - 5/8
22-39625068-G-T PDGFB c.601+1021C>A - IntronicSNV - 5/6
8-6420534-A-G ANGPT2 c.1-79T>C - 5-UTRSNV 1/9 -
9-27213772-C-T TEK c.2991+177C>T - IntronicSNV - 18/22
8-108445788-C-T ANGPT1 c.297+63702G>A - IntronicSNV - 1/8
8-108386442-C-T ANGPT1 c.298-27117G>A - IntronicSNV - 1/8
2-113540413-A-G IL1A c.48-72T>C - IntronicSNV - 2/6
4-55991042-G-C KDR c.67+352C>G - IntronicSNV - 1/29
4-55991042-G-T KDR c.67+352C>A - IntronicSNV - 1/29
6-43748986-A-G VEGFA c.1085+395A>G - IntronicSNV - 6/7
8-6382685-A-G ANGPT2 c.566+2391T>C - IntronicSNV - 3/8
8-6385839-T-A ANGPT2 c.445-642A>T - IntronicSNV - 2/8
8-6385839-T-G ANGPT2 c.445-642A>C - IntronicSNV - 2/8
8-108461828-T-C ANGPT1 c.297+47662A>G - IntronicSNV - 1/8
8-108461828-T-A ANGPT1 c.297+47662A>T - IntronicSNV - 1/8
8-108422946-G-A ANGPT1 c.298-63621C>T - IntronicSNV - 1/8
9-27228754-C-T TEK c.3301-402C>T - IntronicSNV - 22/22
8-108441642-C-T ANGPT1 c.297+67848G>A - IntronicSNV - 1/8
6-43752224-G-A VEGFA c.1218-54G>A - IntronicSNV - 7/7
9-27115768-C-T TEK c.52+6128C>T - IntronicSNV - 1/22
9-27173704-A-G TEK c.901+344A>G - IntronicSNV - 6/22
4-123772887-C-T FGF2 c.577+24380C>T - IntronicSNV - 1/2
8-6359480-T-C ANGPT2 c.*1142A>G - 3-UTRSNV 9/9 -
17-62401929-T-G PECAM1 c.18-724A>C - intron_variant - 2/2
9-27165030-A-G TEK c.365-3463A>G - IntronicSNV - 2/22
9-27171373-T-G TEK c.629-1241T>G - IntronicSNV - 4/22
9-27182825-A-G TEK c.1031-632A>G - IntronicSNV - 7/22
8-6390079-G-C ANGPT2 c.289-71C>G - IntronicSNV - 1/8
8-6390079-G-A ANGPT2 c.289-71C>T - IntronicSNV - 1/8
9-27220066-G-A TEK c.3123G>A p.Gly1041Gly Synonymous 21/23 -
9-27220066-G-T TEK c.3123G>T p.Gly1041Gly Synonymous 21/23 -
8-108329796-C-A ANGPT1 c.808+4328G>T - IntronicSNV - 4/8
2-113538195-A-G IL1A c.320-952T>C - IntronicSNV - 4/6
8-6394821-T-C ANGPT2 c.289-4813A>G - IntronicSNV - 1/8
8-6367302-A-G ANGPT2 c.1200-719T>C - IntronicSNV - 7/8
8-108329796-C-T ANGPT1 c.808+4328G>A - IntronicSNV - 4/8
8-108420688-G-A ANGPT1 c.298-61363C>T - IntronicSNV - 1/8
8-6391302-A-G ANGPT2 c.289-1294T>C - IntronicSNV - 1/8
9-27123260-A-G TEK c.52+13620A>G - IntronicSNV - 1/22
9-27170934-C-A TEK c.628+1307C>A - IntronicSNV - 4/22
9-27171311-C-T TEK c.629-1303C>T - IntronicSNV - 4/22
8-108366127-C-T ANGPT1 c.298-6802G>A - IntronicSNV - 1/8
8-6388247-G-A ANGPT2 c.444+1606C>T - IntronicSNV - 2/8
8-108472328-G-A ANGPT1 c.297+37162C>T - IntronicSNV - 1/8
8-108447635-C-T ANGPT1 c.297+61855G>A - IntronicSNV - 1/8
8-108431161-T-C ANGPT1 c.298-71836A>G - IntronicSNV - 1/8
6-43745577-C-T VEGFA c.855+175C>T - IntronicSNV - 3/7
8-6391302-A-T ANGPT2 c.289-1294T>A - IntronicSNV - 1/8
8-6402366-T-C ANGPT2 c.289-12358A>G - IntronicSNV - 1/8
9-27171311-C-G TEK c.629-1303C>G - IntronicSNV - 4/22
2-113541925-G-A IL1A c.-9+95C>T - intron_variant - 1/6
2-113540084-G-A IL1A c.96+209C>T - IntronicSNV - 3/6
8-108403482-C-T ANGPT1 c.298-44157G>A - IntronicSNV - 1/8
8-6390027-A-G ANGPT2 c.289-19T>C - IntronicSNV - 1/8
4-55961086-C-T KDR c.2854G>A p.Val952Ile Missense 21/30 -
8-108347114-T-C ANGPT1 c.575+1264A>G - IntronicSNV - 3/8
8-108287597-G-A ANGPT1 c.1205+9313C>T - IntronicSNV - 7/8
8-108385748-G-A ANGPT1 c.298-26423C>T - IntronicSNV - 1/8
9-27193503-C-T TEK c.1624+882C>T - IntronicSNV - 11/22
8-108306367-T-C ANGPT1 c.937-102A>G - IntronicSNV - 5/8
22-39631547-T-A PDGFB c.160+236A>T - IntronicSNV - 2/6
9-27112311-G-T TEK c.52+2671G>T - IntronicSNV - 1/22
8-108358009-G-A ANGPT1 c.453+1161C>T - IntronicSNV - 2/8
8-6396696-C-T ANGPT2 c.289-6688G>A - IntronicSNV - 1/8
8-108294209-G-C ANGPT1 c.1205+2701C>G - IntronicSNV - 7/8
8-108294209-G-A ANGPT1 c.1205+2701C>T - IntronicSNV - 7/8
8-108472213-G-T ANGPT1 c.297+37277C>A - IntronicSNV - 1/8
17-62404452-G-A PECAM1 c.17+387C>T - intron_variant - 2/2
8-108342263-A-C ANGPT1 c.575+6115T>G - IntronicSNV - 3/8
8-108495057-C-T ANGPT1 c.297+14433G>A - IntronicSNV - 1/8
8-108387747-A-G ANGPT1 c.298-28422T>C - IntronicSNV - 1/8
4-123772614-C-G FGF2 c.577+24107C>G - IntronicSNV - 1/2
8-108440510-T-C ANGPT1 c.297+68980A>G - IntronicSNV - 1/8
8-6374065-A-G ANGPT2 c.931-1766T>C - IntronicSNV - 5/8
8-6366338-G-A ANGPT2 c.1330+115C>T - IntronicSNV - 8/8
2-113537339-A-G IL1A c.320-96T>C - IntronicSNV - 4/6
8-108279912-G-A ANGPT1 c.1206-3333C>T - IntronicSNV - 7/8
22-39623725-C-T PDGFB c.602-1873G>A - IntronicSNV - 5/6
8-108393800-C-T ANGPT1 c.298-34475G>A - IntronicSNV - 1/8
8-108307058-A-G ANGPT1 c.937-793T>C - IntronicSNV - 5/8
6-43742626-T-C VEGFA c.658+497T>C - IntronicSNV - 2/7
8-6371291-A-G ANGPT2 c.1107T>C p.Tyr369Tyr Synonymous 7/9 -
9-27217947-T-A TEK c.3062+191T>A - IntronicSNV - 19/22
8-108389120-A-T ANGPT1 c.298-29795T>A - IntronicSNV - 1/8
4-55970101-A-C KDR c.1987+709T>G - IntronicSNV - 13/29
8-108389120-A-C ANGPT1 c.298-29795T>G - IntronicSNV - 1/8
8-108456805-T-C ANGPT1 c.297+52685A>G - IntronicSNV - 1/8
8-6400800-G-A ANGPT2 c.289-10792C>T - IntronicSNV - 1/8
9-27152308-T-C TEK c.53-5521T>C - IntronicSNV - 1/22
17-62401118-T-C PECAM1 c.*58A>G - 3-UTRSNV 3/3 -
4-123816707-T-A FGF2 c.*3156T>A - 3-UTRSNV 3/3 -
4-123782568-C-A FGF2 c.578-14908C>A - IntronicSNV - 1/2
9-27176886-T-C TEK c.902-3352T>C - IntronicSNV - 6/22
2-113537223-C-A IL1A c.340G>T p.Ala114Ser Missense 5/7 -
4-123749237-T-C FGF2 c.577+730T>C - IntronicSNV - 1/2
9-27168315-G-A TEK c.365-178G>A - IntronicSNV - 2/22
8-6393780-G-T ANGPT2 c.289-3772C>A - IntronicSNV - 1/8
8-6386620-T-C ANGPT2 c.445-1423A>G - IntronicSNV - 2/8
4-123772018-C-T FGF2 c.577+23511C>T - IntronicSNV - 1/2
4-123772018-C-A FGF2 c.577+23511C>A - IntronicSNV - 1/2
8-6383599-A-G ANGPT2 c.566+1477T>C - IntronicSNV - 3/8
8-108424187-T-C ANGPT1 c.298-64862A>G - IntronicSNV - 1/8
9-27168315-G-T TEK c.365-178G>T - IntronicSNV - 2/22
8-6396763-G-A ANGPT2 c.289-6755C>T - IntronicSNV - 1/8
8-108460133-G-A ANGPT1 c.297+49357C>T - IntronicSNV - 1/8
8-108327040-G-A ANGPT1 c.808+7084C>T - IntronicSNV - 4/8
4-55961159-T-C KDR c.2818-37A>G - IntronicSNV - 20/29
8-6396870-G-A ANGPT2 c.289-6862C>T - IntronicSNV - 1/8
8-6417834-T-C ANGPT2 c.288+2334A>G - IntronicSNV - 1/8
8-6392547-C-T ANGPT2 c.289-2539G>A - IntronicSNV - 1/8
8-6390079-G-T ANGPT2 c.289-71C>A - IntronicSNV - 1/8
22-39634434-A-C PDGFB c.64-2555T>G - IntronicSNV - 1/6
9-27201830-A-G TEK c.1910-988A>G - IntronicSNV - 12/22
8-108503702-G-T ANGPT1 c.297+5788C>A - IntronicSNV - 1/8
8-108503702-G-A ANGPT1 c.297+5788C>T - IntronicSNV - 1/8
2-113540205-G-T IL1A c.96+88C>A - IntronicSNV - 3/6
8-108461525-C-A ANGPT1 c.297+47965G>T - IntronicSNV - 1/8
9-27230152-G-A TEK c.*922G>A - 3-UTRSNV 23/23 -
9-27228564-G-A TEK c.3300+261G>A - IntronicSNV - 22/22
9-27173062-G-A TEK c.761-158G>A - IntronicSNV - 5/22
4-55966453-C-T KDR c.2267-1483G>A - IntronicSNV - 15/29
8-6369930-C-T ANGPT2 c.1199+1269G>A - IntronicSNV - 7/8
8-108299501-T-A ANGPT1 c.1039-2425A>T - IntronicSNV - 6/8
8-108299501-T-G ANGPT1 c.1039-2425A>C - IntronicSNV - 6/8
9-27203134-A-T TEK c.2209+17A>T - IntronicSNV - 13/22
9-27203134-A-G TEK c.2209+17A>G - IntronicSNV - 13/22
8-108409423-C-A ANGPT1 c.298-50098G>T - IntronicSNV - 1/8
9-27188862-G-T TEK c.1328-1665G>T - IntronicSNV - 9/22
9-27188862-G-A TEK c.1328-1665G>A - IntronicSNV - 9/22
17-62403328-T-C PECAM1 c.17+1511A>G - intron_variant - 2/2
6-43738977-C-G VEGFA c.534C>G p.Ser178Ser Synonymous 1/8 -
9-27120369-G-T TEK c.52+10729G>T - IntronicSNV - 1/22
8-6398677-C-T ANGPT2 c.289-8669G>A - IntronicSNV - 1/8
9-27179530-A-G TEK c.902-708A>G - IntronicSNV - 6/22
9-27214972-T-A TEK c.2991+1377T>A - IntronicSNV - 18/22
9-27214972-T-C TEK c.2991+1377T>C - IntronicSNV - 18/22
9-27213580-T-C TEK c.2976T>C p.Tyr992Tyr Synonymous 18/23 -
8-108393683-G-A ANGPT1 c.298-34358C>T - IntronicSNV - 1/8
20-44639692-G-T MMP9 c.649+3G>T - IntronicSNV - 4/12
8-108366032-C-T ANGPT1 c.298-6707G>A - IntronicSNV - 1/8
8-108490998-G-T ANGPT1 c.297+18492C>A - IntronicSNV - 1/8
8-108454681-G-A ANGPT1 c.297+54809C>T - IntronicSNV - 1/8
8-6365620-T-C ANGPT2 c.1330+833A>G - IntronicSNV - 8/8
6-43750556-G-A VEGFA c.1217+732G>A - IntronicSNV - 7/7
4-55966801-C-T KDR c.2266+1263G>A - IntronicSNV - 15/29
22-39630287-A-G PDGFB c.161-758T>C - IntronicSNV - 2/6
8-108266983-G-A ANGPT1 c.1337-2740C>T - IntronicSNV - 8/8
8-108427960-T-A ANGPT1 c.298-68635A>T - IntronicSNV - 1/8
2-113538782-G-A IL1A c.319+399C>T - IntronicSNV - 4/6
2-113538782-G-C IL1A c.319+399C>G - IntronicSNV - 4/6
9-27133385-C-T TEK c.52+23745C>T - IntronicSNV - 1/22
8-6371303-A-G ANGPT2 c.1095T>C p.Asn365Asn Synonymous 7/9 -
8-6371303-A-C ANGPT2 c.1095T>G p.Asn365Lys Missense 7/9 -
9-27133385-C-A TEK c.52+23745C>A - IntronicSNV - 1/22
9-27161811-A-G TEK c.364+3671A>G - IntronicSNV - 2/22
8-108378311-A-C ANGPT1 c.298-18986T>G - IntronicSNV - 1/8
8-108389187-T-C ANGPT1 c.298-29862A>G - IntronicSNV - 1/8
9-27148475-A-G TEK c.53-9354A>G - IntronicSNV - 1/22
20-44642406-G-C MMP9 c.1721G>C p.Arg574Pro Missense 10/13 -
9-27164220-A-G TEK c.365-4273A>G - IntronicSNV - 2/22
8-6396870-G-C ANGPT2 c.289-6862C>G - IntronicSNV - 1/8
8-108332485-T-C ANGPT1 c.808+1639A>G - IntronicSNV - 4/8
8-6397842-A-C ANGPT2 c.289-7834T>G - IntronicSNV - 1/8
20-44642406-G-T MMP9 c.1721G>T p.Arg574Leu Missense 10/13 -
8-6420574-A-G ANGPT2 c.1-119T>C - 5-UTRSNV 1/9 -
8-6420574-A-T ANGPT2 c.1-119T>A - 5-UTRSNV 1/9 -
8-6417876-C-G ANGPT2 c.288+2292G>C - IntronicSNV - 1/8
8-108427960-T-C ANGPT1 c.298-68635A>G - IntronicSNV - 1/8
8-6376877-G-A ANGPT2 c.930+508C>T - IntronicSNV - 5/8
8-6405608-C-T ANGPT2 c.288+14560G>A - IntronicSNV - 1/8
17-62400749-A-C PECAM1 c.*427T>G - 3-UTRSNV 3/3 -
8-6378763-C-T ANGPT2 c.735G>A p.Gln245Gln Synonymous 4/9 -
8-108287577-T-A ANGPT1 c.1205+9333A>T - IntronicSNV - 7/8
8-6390027-A-T ANGPT2 c.289-19T>A - IntronicSNV - 1/8
9-27212360-C-T TEK c.2687-345C>T - IntronicSNV - 16/22
17-62404390-T-C PECAM1 c.17+449A>G - intron_variant - 2/2
8-6373705-T-G ANGPT2 c.931-1406A>C - IntronicSNV - 5/8
8-108369839-C-T ANGPT1 c.298-10514G>A - IntronicSNV - 1/8
6-43738977-C-T VEGFA c.534C>T p.Ser178Ser Synonymous 1/8 -
2-113537190-T-C IL1A c.373A>G p.Asn125Asp Missense 5/7 -
17-62401965-T-C PECAM1 c.18-760A>G - intron_variant - 2/2
22-39623725-C-G PDGFB c.602-1873G>C - IntronicSNV - 5/6
8-108359453-C-T ANGPT1 c.298-128G>A - IntronicSNV - 1/8
8-6367302-A-C ANGPT2 c.1200-719T>G - IntronicSNV - 7/8
8-108407313-A-T ANGPT1 c.298-47988T>A - IntronicSNV - 1/8
8-108407313-A-C ANGPT1 c.298-47988T>G - IntronicSNV - 1/8
8-6373996-C-T ANGPT2 c.931-1697G>A - IntronicSNV - 5/8
4-123775767-G-A FGF2 c.578-21709G>A - IntronicSNV - 1/2
9-27206307-A-C TEK c.2365-273A>C - IntronicSNV - 14/22
8-6396696-C-G ANGPT2 c.289-6688G>C - IntronicSNV - 1/8
22-39624105-T-G PDGFB c.601+1984A>C - IntronicSNV - 5/6
9-27206307-A-T TEK c.2365-273A>T - IntronicSNV - 14/22
4-123774065-C-T FGF2 c.578-23411C>T - IntronicSNV - 1/2
8-108439362-G-A ANGPT1 c.297+70128C>T - IntronicSNV - 1/8
8-108456531-A-G ANGPT1 c.297+52959T>C - IntronicSNV - 1/8
8-6396763-G-T ANGPT2 c.289-6755C>A - IntronicSNV - 1/8
8-6366338-G-C ANGPT2 c.1330+115C>G - IntronicSNV - 8/8
6-43750587-G-C VEGFA c.1217+763G>C - IntronicSNV - 7/7
9-27208252-T-G TEK c.2576-867T>G - IntronicSNV - 15/22
9-27133016-A-C TEK c.52+23376A>C - IntronicSNV - 1/22
9-27217947-T-C TEK c.3062+191T>C - IntronicSNV - 19/22
8-6368412-T-C ANGPT2 c.1200-1829A>G - IntronicSNV - 7/8
9-27193541-T-C TEK c.1624+920T>C - IntronicSNV - 11/22
9-27149669-T-C TEK c.53-8160T>C - IntronicSNV - 1/22
8-6397842-A-G ANGPT2 c.289-7834T>C - IntronicSNV - 1/8
17-62404390-T-A PECAM1 c.17+449A>T - intron_variant - 2/2
9-27170934-C-T TEK c.628+1307C>T - IntronicSNV - 4/22
9-27193541-T-A TEK c.1624+920T>A - IntronicSNV - 11/22
9-27173062-G-C TEK c.761-158G>C - IntronicSNV - 5/22
8-6402367-G-A ANGPT2 c.289-12359C>T - IntronicSNV - 1/8
4-55957723-A-G KDR c.3069+1061T>C - IntronicSNV - 22/29
8-108273016-T-C ANGPT1 c.1336+3433A>G - IntronicSNV - 8/8
8-108395025-G-A ANGPT1 c.298-35700C>T - IntronicSNV - 1/8
9-27134636-A-G TEK c.53-23193A>G - IntronicSNV - 1/22
9-27136705-T-C TEK c.53-21124T>C - IntronicSNV - 1/22