Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
14-65405382-G-A | CHURC1-FNTB | c.6+14538G>A | - | IntronicSNV | - | 2/12 |
3-49453834-C-T | TCTA | c.*1539C>T | - | 3-UTRSNV | 3/3 | - |
15-51502986-G-A | CYP19A1 | c.*19C>T | - | 3-UTRSNV | 10/10 | - |
16-68809640-T-A | CDH1 | c.164-25933T>A | - | IntronicSNV | - | 2/15 |
19-13050327-G-T | CALR | c.279G>T | p.Val93Val | Synonymous | 3/9 | - |
19-13050327-G-A | CALR | c.279G>A | p.Val93Val | Synonymous | 3/9 | - |
19-13050327-G-C | CALR | c.279G>C | p.Val93Val | Synonymous | 3/9 | - |
5-86697387-A-T | CCNH | c.760+132T>A | - | IntronicSNV | - | 6/8 |
3-49395757-G-A | GPX1 | c.1-46C>T | - | 5-UTRSNV | 1/2 | - |
3-121796768-G-A | CD86 | c.-129G>A | - | 5_prime_UTR_variant | 1/7 | - |
12-25379793-C-T | KRAS | c.290+375G>A | - | IntronicSNV | - | 3/5 |
17-59850524-A-G | BRIP1 | c.2097+3238T>C | - | IntronicSNV | - | 14/19 |
15-58838010-A-G | LIPC | c.644A>G | p.Asn215Ser | Missense | 5/9 | - |
8-42200207-G-A | POLB | c.120-2264G>A | - | IntronicSNV | - | 2/13 |
19-9952743-G-T | PIN1 | c.271+3419G>T | - | IntronicSNV | - | 2/3 |
17-63549261-T-C | AXIN2 | c.816-3483A>G | - | IntronicSNV | - | 2/10 |
2-190730049-G-T | PMS1 | c.2342+1095G>T | - | IntronicSNV | - | 10/12 |
6-152421854-C-A | ESR1 | c.*1753C>A | - | 3-UTRSNV | 8/8 | - |
19-45882962-T-A | PPP1R13L | c.*486A>T | - | 3-UTRSNV | 13/13 | - |
11-100983629-T-C | PGR | c.1789+13109A>G | - | IntronicSNV | - | 2/7 |
10-5147909-G-A | AKR1C3 | c.929+40G>A | - | IntronicSNV | - | 8/8 |
5-174870196-C-T | DRD1 | c.1-94G>A | - | 5-UTRSNV | 2/2 | - |
6-37142422-C-T | PIM1 | c.*555C>T | - | 3-UTRSNV | 6/6 | - |
5-131819126-C-T | IRF1 | c.*517G>A | - | 3-UTRSNV | 10/10 | - |
5-82642663-T-A | XRCC4 | c.894-6287T>A | - | IntronicSNV | - | 7/7 |
5-82642663-T-C | XRCC4 | c.894-6287T>C | - | IntronicSNV | - | 7/7 |
3-122003769-A-G | CASR | c.2968A>G | p.Arg990Gly | Missense | 7/7 | - |
19-7132081-C-T | INSR | c.2842+88G>A | - | IntronicSNV | - | 14/21 |
1-46743900-C-T | RAD54L | c.2190C>T | p.Ala730Ala | Synonymous | 18/18 | - |
3-119804136-G-T | GSK3B | c.88+8058C>A | - | IntronicSNV | - | 1/10 |
1-46743900-C-A | RAD54L | c.2190C>A | p.Ala730Ala | Synonymous | 18/18 | - |
3-14187449-G-T | XPC | c.2815C>A | p.Gln939Lys | Missense | 16/16 | - |
19-11224181-C-A | LDLR | c.1359-30C>A | - | IntronicSNV | - | 9/17 |
22-19928806-G-A | TXNRD2 | c.103+418C>T | - | IntronicSNV | - | 1/17 |
22-19928806-G-C | TXNRD2 | c.103+418C>G | - | IntronicSNV | - | 1/17 |
17-63537898-T-C | AXIN2 | c.957-223A>G | - | IntronicSNV | - | 3/10 |
3-41258048-A-G | CTNNB1 | c.1-7512A>G | - | IntronicSNV | - | 1/15 |
3-41258048-A-T | CTNNB1 | c.1-7512A>T | - | IntronicSNV | - | 1/15 |
11-69466115-C-A | CCND1 | c.*65C>A | - | 3-UTRSNV | 5/5 | - |
19-11224181-C-T | LDLR | c.1359-30C>T | - | IntronicSNV | - | 9/17 |
X-66878919-G-A | AR | c.1768+15670G>A | - | IntronicSNV | - | 2/7 |
16-89831510-C-T | FANCA | c.2602-36G>A | - | IntronicSNV | - | 27/42 |
16-89831510-C-A | FANCA | c.2602-36G>T | - | IntronicSNV | - | 27/42 |
15-51591204-T-C | CYP19A1 | c.-39+39488A>G | - | intron_variant | - | 1/9 |
12-125339228-A-C | SCARB1 | c.126+8913T>G | - | IntronicSNV | - | 1/12 |
13-32890572-G-A | BRCA2 | c.1-26G>A | - | 5-UTRSNV | 2/27 | - |
22-38557326-T-C | PLA2G6 | c.209+7899A>G | - | IntronicSNV | - | 2/15 |
2-128046548-C-A | ERCC3 | c.823-108G>T | - | IntronicSNV | - | 6/14 |
8-27402074-A-G | EPHX2 | c.*35A>G | - | 3-UTRSNV | 19/19 | - |
5-438102-G-T | AHRR | c.*3153G>T | - | 3-UTRSNV | 12/12 | - |
17-37866005-C-T | ERBB2 | c.575-61C>T | - | IntronicSNV | - | 4/26 |
10-6002368-T-G | IL15RA | c.545A>C | p.Asn182Thr | Missense | 4/7 | - |
1-150814174-A-G | ARNT | c.228-2044T>C | - | IntronicSNV | - | 4/20 |
X-96139406-G-A | DIAPH2 | c.587+2689G>A | - | IntronicSNV | - | 5/26 |
1-196646387-T-C | CFH | c.428-219T>C | - | IntronicSNV | - | 4/21 |
14-65403904-T-C | CHURC1-FNTB | c.6+13060T>C | - | IntronicSNV | - | 2/12 |
2-190730049-G-A | PMS1 | c.2342+1095G>A | - | IntronicSNV | - | 10/12 |
20-46274185-G-A | NCOA3 | c.3253-1632G>A | - | IntronicSNV | - | 17/22 |
19-1051751-A-G | ABCA7 | c.2962+166A>G | - | IntronicSNV | - | 21/46 |
15-28235773-C-T | OCA2 | c.1065G>A | p.Ala355Ala | Synonymous | 10/24 | - |
1-110279701-C-T | GSTM3 | c.670G>A | p.Val224Ile | Missense | 9/9 | - |
11-9087533-A-G | SCUBE2 | c.761-6T>C | - | IntronicSNV | - | 6/21 |
6-117725448-T-G | ROS1 | c.433A>C | p.Thr145Pro | Missense | 5/43 | - |
X-43591036-G-T | MAOA | c.891G>T | p.Arg297Arg | Synonymous | 8/15 | - |
20-30287328-T-G | BCL2L1 | c.564+22130A>C | - | IntronicSNV | - | 2/2 |
15-58839272-T-G | LIPC | c.808+1098T>G | - | IntronicSNV | - | 5/8 |
10-54525849-T-C | MBL2 | c.*2048A>G | - | 3-UTRSNV | 4/4 | - |
4-122742217-T-A | CCNA2 | c.487A>T | p.Ile163Leu | Missense | 3/8 | - |
5-79983800-G-C | MSH3 | c.1340+8888G>C | - | IntronicSNV | - | 8/23 |
19-7199803-A-G | INSR | c.653-15155T>C | - | IntronicSNV | - | 2/21 |
22-29192670-T-C | XBP1 | c.453+395A>G | - | IntronicSNV | - | 3/4 |
6-117737390-G-A | ROS1 | c.228+31C>T | - | IntronicSNV | - | 3/42 |
3-189599324-T-C | TP63 | c.1350-4859T>C | - | IntronicSNV | - | 10/13 |
12-53497288-A-G | SOAT2 | c.1-74A>G | - | 5-UTRSNV | 1/15 | - |
11-33906484-G-A | LMO2 | c.-335-3051C>T | - | intron_variant | - | 1/5 |
1-186648197-C-G | PTGS2 | c.306G>C | p.Val102Val | Synonymous | 3/10 | - |
7-55268916-C-T | EGFR | c.2982C>T | p.Asp994Asp | Synonymous | 25/28 | - |
14-65408509-G-A | CHURC1-FNTB | c.6+17665G>A | - | IntronicSNV | - | 2/12 |
14-65410547-C-T | CHURC1-FNTB | c.6+19703C>T | - | IntronicSNV | - | 2/12 |
3-41277040-C-T | CTNNB1 | c.1684-175C>T | - | IntronicSNV | - | 10/15 |
1-183534935-C-T | NCF2 | c.925-21G>A | - | IntronicSNV | - | 9/14 |
16-57017662-G-A | CETP | c.*84G>A | - | 3-UTRSNV | 16/16 | - |
15-51529112-T-C | CYP19A1 | c.240A>G | p.Val80Val | Synonymous | 3/10 | - |
1-150811794-T-C | ARNT | c.441+123A>G | - | IntronicSNV | - | 5/20 |
6-52843131-G-T | GSTA4 | c.*137C>A | - | 3-UTRSNV | 7/7 | - |
6-52843131-G-A | GSTA4 | c.*137C>T | - | 3-UTRSNV | 7/7 | - |
12-125339228-A-G | SCARB1 | c.126+8913T>C | - | IntronicSNV | - | 1/12 |
8-19818436-C-T | LPL | c.1164C>T | p.Thr388Thr | Synonymous | 8/10 | - |
1-110279602-T-G | GSTM3 | c.*91A>C | - | 3-UTRSNV | 9/9 | - |
2-113888793-A-T | IL1RN | c.327+59A>T | - | IntronicSNV | - | 5/5 |
7-124469267-A-T | POT1 | c.1201+41T>A | - | IntronicSNV | - | 15/17 |
13-32912299-T-G | BRCA2 | c.3807T>G | p.Val1269Val | Synonymous | 11/27 | - |
22-30804862-G-A | SEC14L2 | c.424-314G>A | - | IntronicSNV | - | 5/11 |
1-226573364-A-G | PARP1 | c.852T>C | p.Ala284Ala | Synonymous | 7/23 | - |
12-25388316-G-C | KRAS | c.112-7970C>G | - | IntronicSNV | - | 2/5 |
3-186960482-G-A | MASP1 | c.1228+790C>T | - | IntronicSNV | - | 9/15 |
13-32912299-T-C | BRCA2 | c.3807T>C | p.Val1269Val | Synonymous | 11/27 | - |
5-42483693-T-C | GHR | c.-12+59636T>C | - | intron_variant | - | 1/9 |
19-52467822-G-A | ZNF350 | c.*285C>T | - | 3-UTRSNV | 5/5 | - |
20-46268493-A-G | NCOA3 | c.2880A>G | p.Thr960Thr | Synonymous | 15/23 | - |
8-19818436-C-A | LPL | c.1164C>A | p.Thr388Thr | Synonymous | 8/10 | - |
16-67973953-G-A | LCAT | c.1177C>T | p.Leu393Leu | Synonymous | 6/6 | - |
4-100265957-C-A | ADH1C | c.567+62G>T | - | IntronicSNV | - | 5/8 |
20-42336684-C-A | MYBL2 | c.1506-1919C>A | - | IntronicSNV | - | 9/13 |
4-100265957-C-T | ADH1C | c.567+62G>A | - | IntronicSNV | - | 5/8 |
6-160468383-T-C | IGF2R | c.2229+15T>C | - | IntronicSNV | - | 16/47 |
6-160468383-T-A | IGF2R | c.2229+15T>A | - | IntronicSNV | - | 16/47 |
6-43738977-C-G | VEGFA | c.534C>G | p.Ser178Ser | Synonymous | 1/8 | - |
1-196682947-G-A | CFH | c.1419G>A | p.Ala473Ala | Synonymous | 10/22 | - |
1-196682947-G-C | CFH | c.1419G>C | p.Ala473Ala | Synonymous | 10/22 | - |
1-196682947-G-T | CFH | c.1419G>T | p.Ala473Ala | Synonymous | 10/22 | - |
9-21973422-G-T | CDKN2A | c.150+1255C>A | - | IntronicSNV | - | 1/2 |
9-21973422-G-A | CDKN2A | c.150+1255C>T | - | IntronicSNV | - | 1/2 |
12-102823550-C-G | IGF1 | c.221-10082G>C | - | IntronicSNV | - | 2/3 |
22-23627369-A-G | BCR | c.2387A>G | p.Asn796Ser | Missense | 10/23 | - |
13-32959789-T-C | BRCA2 | c.9256+5507T>C | - | IntronicSNV | - | 24/26 |
3-119650788-T-C | GSK3B | c.367-8458A>G | - | IntronicSNV | - | 3/10 |
15-51534547-C-T | CYP19A1 | c.145+418G>A | - | IntronicSNV | - | 2/9 |
16-69752373-C-T | NQO1 | c.72G>A | p.Glu24Glu | Synonymous | 2/6 | - |
20-42302371-C-G | MYBL2 | c.21-75C>G | - | IntronicSNV | - | 1/13 |
22-30795889-G-A | SEC14L2 | c.130+182G>A | - | IntronicSNV | - | 2/11 |
17-41223094-T-A | BRCA1 | c.4837A>T | p.Ser1613Cys | Missense | 15/23 | - |
17-41223094-T-C | BRCA1 | c.4837A>G | p.Ser1613Gly | Missense | 15/23 | - |
11-36597313-A-G | RAG1 | c.2459A>G | p.Lys820Arg | Missense | 2/2 | - |
19-45854919-T-A | ERCC2 | c.2251A>T | p.Lys751* | Nonsense | 23/23 | - |
6-137519588-A-C | IFNGR1 | c.1050T>G | p.Ser350Ser | Synonymous | 7/7 | - |
15-51534547-C-A | CYP19A1 | c.145+418G>T | - | IntronicSNV | - | 2/9 |
7-93072671-G-T | CALCR | c.802+245C>A | - | IntronicSNV | - | 9/13 |
17-7592168-C-G | WRAP53 | c.202C>G | p.Arg68Gly | Missense | 1/10 | - |
17-7592168-C-T | WRAP53 | c.202C>T | p.Arg68Trp | Missense | 1/10 | - |
10-50667105-T-C | ERCC6 | c.4238A>G | p.Gln1413Arg | Missense | 21/21 | - |
17-41246481-T-C | BRCA1 | c.1067A>G | p.Gln356Arg | Missense | 10/23 | - |
6-33547440-G-C | BAK1 | c.-32+362C>G | - | intron_variant | - | 1/5 |
11-108235115-C-A | ATM | c.8851-694C>A | - | IntronicSNV | - | 61/62 |
2-217070766-G-A | XRCC5 | c.*841G>A | - | 3-UTRSNV | 21/21 | - |
11-34482908-C-T | CAT | c.1167C>T | p.Asp389Asp | Synonymous | 9/13 | - |
3-186998938-A-C | MASP1 | c.237+4675T>G | - | IntronicSNV | - | 2/15 |
3-189608961-C-A | TP63 | c.1746+290C>A | - | IntronicSNV | - | 13/13 |
5-42631264-T-C | GHR | c.136+2059T>C | - | IntronicSNV | - | 3/9 |
2-38292762-C-T | RMDN2 | c.1714-1363C>T | - | IntronicSNV | - | 10/10 |
5-42714850-T-C | GHR | c.875+1229T>C | - | IntronicSNV | - | 8/9 |
5-1411412-T-C | SLC6A3 | c.1215A>G | p.Ser405Ser | Synonymous | 9/15 | - |
12-53493387-C-T | IGFBP6 | c.335-1109C>T | - | IntronicSNV | - | 1/3 |
15-28230318-C-T | OCA2 | c.1256G>A | p.Arg419Gln | Missense | 13/24 | - |
1-159682233-C-T | CRP | c.*1082G>A | - | 3-UTRSNV | 2/2 | - |
6-152421130-T-C | ESR1 | c.*1029T>C | - | 3-UTRSNV | 8/8 | - |
7-116435768-C-T | MET | c.3858C>T | p.Asp1286Asp | Synonymous | 20/21 | - |
19-17955021-G-A | JAK3 | c.184+22C>T | - | IntronicSNV | - | 2/23 |
20-4980505-C-T | SLC23A2 | c.-282+1547G>A | - | intron_variant | - | 1/16 |
5-33989518-C-T | AMACR | c.829G>A | p.Glu277Lys | Missense | 5/5 | - |
11-13514263-C-A | PTH | c.87-50G>T | - | IntronicSNV | - | 2/2 |
11-13514263-C-T | PTH | c.87-50G>A | - | IntronicSNV | - | 2/2 |
11-68082403-C-T | LRP5 | c.91+2130C>T | - | IntronicSNV | - | 1/22 |
11-2404602-C-A | CD81 | c.66+5757C>A | - | IntronicSNV | - | 1/7 |
1-11854671-C-A | MTHFR | c.1167-76G>T | - | IntronicSNV | - | 7/11 |
3-169497585-A-G | MYNN | c.1060+236A>G | - | IntronicSNV | - | 3/7 |
5-158756166-G-A | IL12B | c.-1+1274C>T | - | intron_variant | - | 1/7 |
10-5998659-C-T | IL15RA | c.617-242G>A | - | IntronicSNV | - | 5/6 |
5-7900833-T-A | MTRR | c.*662T>A | - | 3-UTRSNV | 15/15 | - |
3-41242863-A-T | CTNNB1 | c.-49+1702A>T | - | intron_variant | - | 1/15 |
3-41242863-A-G | CTNNB1 | c.-49+1702A>G | - | intron_variant | - | 1/15 |
10-90751516-C-T | FAS | c.30+853C>T | - | IntronicSNV | - | 1/8 |
17-37884037-C-G | ERBB2 | c.3508C>G | p.Pro1170Ala | Missense | 27/27 | - |
5-7897191-C-T | MTRR | c.1783C>T | p.His595Tyr | Missense | 14/15 | - |
3-189582241-T-G | TP63 | c.766+34T>G | - | IntronicSNV | - | 5/13 |
15-91334258-T-A | BLM | c.3019+184T>A | - | IntronicSNV | - | 15/21 |
19-10382537-G-A | ICAM1 | c.67+635G>A | - | IntronicSNV | - | 1/6 |
2-38298139-T-C | CYP1B1 | c.1358A>G | p.Asn453Ser | Missense | 3/3 | - |
2-38298139-T-G | CYP1B1 | c.1358A>C | p.Asn453Thr | Missense | 3/3 | - |
6-37141962-C-A | PIM1 | c.*95C>A | - | 3-UTRSNV | 6/6 | - |
20-36965617-A-G | BPI | c.*31A>G | - | 3-UTRSNV | 15/15 | - |
20-30305975-A-G | BCL2L1 | c.564+3483T>C | - | IntronicSNV | - | 2/2 |
12-15095162-G-A | ARHGDIB | c.*294C>T | - | 3-UTRSNV | 6/6 | - |
11-108239628-G-T | ATM | c.*3393G>T | - | 3-UTRSNV | 63/63 | - |
5-34004707-C-T | AMACR | c.524G>A | p.Gly175Asp | Missense | 3/5 | - |
1-11863057-G-C | MTHFR | c.117C>G | p.Pro39Pro | Synonymous | 2/12 | - |
1-119965564-C-G | HSD3B2 | c.*321C>G | - | 3-UTRSNV | 4/4 | - |
20-54945783-A-G | AURKA | c.855-68T>C | - | IntronicSNV | - | 7/8 |
12-102789852-C-G | IGF1 | c.*6433G>C | - | 3-UTRSNV | 4/4 | - |
6-1613529-A-T | FOXC1 | c.*1187A>T | - | 3-UTRSNV | 1/1 | - |
6-1613529-A-G | FOXC1 | c.*1187A>G | - | 3-UTRSNV | 1/1 | - |
6-1613529-A-C | FOXC1 | c.*1187A>C | - | 3-UTRSNV | 1/1 | - |
5-82372665-G-A | TMEM167A | c.3+475C>T | - | IntronicSNV | - | 1/3 |
5-82372665-G-T | TMEM167A | c.3+475C>A | - | IntronicSNV | - | 1/3 |
13-32977532-C-G | N4BP2L1 | c.474-195G>C | - | IntronicSNV | - | 4/4 |
10-8109274-C-G | GATA3 | c.925-2162C>G | - | IntronicSNV | - | 4/5 |
5-1266310-A-G | TERT | c.2654+269T>C | - | IntronicSNV | - | 10/14 |
1-242035382-C-T | EXO1 | c.1316C>T | p.Thr439Met | Missense | 10/14 | - |
3-187000356-T-C | MASP1 | c.237+3257A>G | - | IntronicSNV | - | 2/15 |
3-187000356-T-A | MASP1 | c.237+3257A>T | - | IntronicSNV | - | 2/15 |
9-101910613-G-T | TGFBR1 | c.1155+547G>T | - | IntronicSNV | - | 7/7 |
11-68201295-C-T | LRP5 | c.3989C>T | p.Ala1330Val | Missense | 18/23 | - |
11-18536215-G-T | TSG101 | c.357+10C>A | - | IntronicSNV | - | 4/9 |
9-110084328-C-T | RAD23B | c.746C>T | p.Ala249Val | Missense | 7/10 | - |
2-227647360-C-G | IRS1 | c.*12366G>C | - | IntronicSNV | - | 1/1 |
19-41858876-C-G | TGFB1 | c.74G>C | p.Arg25Pro | Missense | 1/7 | - |
15-51508120-A-C | CYP19A1 | c.744-106T>G | - | IntronicSNV | - | 6/9 |
11-18503159-C-A | TSG101 | c.1083+18G>T | - | IntronicSNV | - | 9/9 |
3-41241993-A-G | CTNNB1 | c.-49+832A>G | - | intron_variant | - | 1/15 |
19-1053524-C-T | ABCA7 | c.3417C>T | p.Leu1139Leu | Synonymous | 24/47 | - |
10-101563815-G-A | ABCC2 | c.1249G>A | p.Val417Ile | Missense | 10/32 | - |
10-81706324-A-G | SFTPD | c.92T>C | p.Met31Thr | Missense | 2/8 | - |
13-103518663-A-C | ERCC5 | c.2251A>C | p.Lys751Gln | Missense | 10/15 | - |
7-150758482-A-G | SLC4A2 | c.1-593A>G | - | IntronicSNV | - | 1/22 |
21-43786186-G-C | TFF1 | c.85+334C>G | - | IntronicSNV | - | 1/2 |
11-102660959-A-G | MMP1 | c.*184T>C | - | 3-UTRSNV | 10/10 | - |
14-65411908-C-A | CHURC1-FNTB | c.6+21064C>A | - | IntronicSNV | - | 2/12 |
1-150811712-T-C | ARNT | c.441+205A>G | - | IntronicSNV | - | 5/20 |
9-101897732-A-G | TGFBR1 | c.344-2409A>G | - | IntronicSNV | - | 2/7 |
9-101897732-A-C | TGFBR1 | c.344-2409A>C | - | IntronicSNV | - | 2/7 |
17-7529902-G-A | SAT2 | c.376C>T | p.Arg126Cys | Missense | 6/6 | - |
3-119595503-A-G | GSK3B | c.814-148T>C | - | IntronicSNV | - | 7/10 |
1-110279821-C-A | GSTM3 | c.580-30G>T | - | IntronicSNV | - | 8/8 |
1-110279821-C-T | GSTM3 | c.580-30G>A | - | IntronicSNV | - | 8/8 |
16-69743760-A-T | NQO1 | c.*1119T>A | - | 3-UTRSNV | 6/6 | - |
10-89653686-A-G | PTEN | c.80-96A>G | - | IntronicSNV | - | 1/8 |
4-153265507-T-A | FBXW7 | c.372+2575A>T | - | IntronicSNV | - | 3/10 |
4-153265507-T-C | FBXW7 | c.372+2575A>G | - | IntronicSNV | - | 3/10 |
19-13050316-A-G | CALR | c.268A>G | p.Thr90Ala | Missense | 3/9 | - |
19-9952743-G-A | PIN1 | c.271+3419G>A | - | IntronicSNV | - | 2/3 |
7-116200587-C-T | CAV1 | c.*1246C>T | - | 3-UTRSNV | 3/3 | - |
6-153365348-G-A | RGS17 | c.1-195C>T | - | IntronicSNV | - | 1/4 |
21-44478497-C-T | CBS | c.1359-134G>A | - | IntronicSNV | - | 14/16 |
15-52671784-C-T | MYO5A | c.2208+38G>A | - | IntronicSNV | - | 18/40 |
17-63554591-G-A | AXIN2 | c.148C>T | p.Pro50Ser | Missense | 2/11 | - |
5-80168937-G-A | MSH3 | c.3133G>A | p.Ala1045Thr | Missense | 23/24 | - |
19-41858876-C-T | TGFB1 | c.74G>A | p.Arg25Gln | Missense | 1/7 | - |
7-55242609-A-G | EGFR | c.2283+96A>G | - | IntronicSNV | - | 19/27 |
1-196642233-G-A | CFH | c.184G>A | p.Val62Ile | Missense | 2/22 | - |
10-43606687-A-G | RET | c.1296A>G | p.Ala432Ala | Synonymous | 7/20 | - |
1-226550924-G-C | PARP1 | c.2787-63C>G | - | IntronicSNV | - | 20/22 |
14-20841707-C-T | TEP1 | c.6640G>A | p.Val2214Ile | Missense | 46/55 | - |
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 | - |
3-37070106-C-T | MLH1 | c.1410-169C>T | - | IntronicSNV | - | 12/18 |
9-125143792-C-A | PTGS1 | c.639C>A | p.Gly213Gly | Synonymous | 6/11 | - |
5-42562199-A-G | GHR | c.1-3778A>G | - | IntronicSNV | - | 1/9 |
19-50162909-C-G | IRF3 | c.1280G>C | p.Ser427Thr | Missense | 8/8 | - |
11-69466737-C-G | CCND1 | c.*687C>G | - | 3-UTRSNV | 5/5 | - |
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 | - |
12-12874917-C-A | CDKN1B | c.*956C>A | - | 3_prime_UTR_variant | 3/3 | - |
11-34460541-T-C | CAT | c.1-20T>C | - | 5-UTRSNV | 1/13 | - |
5-118870452-G-A | HSD17B4 | c.1994-1666G>A | - | IntronicSNV | - | 22/23 |
6-31540142-G-A | LTA | c.-91G>A | - | 5_prime_UTR_variant | 1/4 | - |
6-43738977-C-T | VEGFA | c.534C>T | p.Ser178Ser | Synonymous | 1/8 | - |
12-25367669-G-A | KRAS | c.*706C>T | - | IntronicSNV | - | 5/5 |
15-91340941-C-T | BLM | c.3211-479C>T | - | IntronicSNV | - | 16/21 |
16-27353357-C-T | IL4R | c.71-85C>T | - | IntronicSNV | - | 3/10 |
16-27353357-C-G | IL4R | c.71-85C>G | - | IntronicSNV | - | 3/10 |
16-28603012-A-G | SGF29 | c.867A>G | p.Glu289Glu | Synonymous | 10/10 | - |
4-123377482-C-A | IL2 | c.114G>T | p.Leu38Leu | Synonymous | 1/4 | - |
9-107620867-C-T | ABCA1 | c.656G>A | p.Arg219Lys | Missense | 7/50 | - |
11-125525195-A-G | CHEK1 | c.1411A>G | p.Ile471Val | Missense | 13/13 | - |
11-125525195-A-C | CHEK1 | c.1411A>C | p.Ile471Leu | Missense | 13/13 | - |
11-125525195-A-T | CHEK1 | c.1411A>T | p.Ile471Phe | Missense | 13/13 | - |
6-31543758-G-A | TNF | c.186+54G>A | - | IntronicSNV | - | 1/3 |
7-124465509-A-C | POT1 | c.1294-98T>G | - | IntronicSNV | - | 16/17 |
3-189604160-T-A | TP63 | c.1350-23T>A | - | IntronicSNV | - | 10/13 |
3-187006766-C-T | MASP1 | c.5+2650G>A | - | IntronicSNV | - | 1/15 |
11-2156930-G-A | IGF2 | c.1-177C>T | - | IntronicSNV | - | 1/3 |
13-32973012-A-C | BRCA2 | c.*105A>C | - | 3-UTRSNV | 27/27 | - |
16-1836255-C-T | NUBP2 | c.17-283C>T | - | IntronicSNV | - | 1/6 |
16-1836255-C-A | NUBP2 | c.17-283C>A | - | IntronicSNV | - | 1/6 |
16-1836255-C-G | NUBP2 | c.17-283C>G | - | IntronicSNV | - | 1/6 |
10-5136651-C-G | AKR1C3 | c.15C>G | p.His5Gln | Missense | 1/9 | - |
17-7578645-C-T | TP53 | c.376-91G>A | - | IntronicSNV | - | 4/10 |
6-154414573-C-T | OPRM1 | c.1164+1966C>T | - | IntronicSNV | - | 3/3 |
19-17948732-T-C | JAK3 | c.1701+9A>G | - | IntronicSNV | - | 12/23 |
8-73951227-G-A | TERF1 | c.1040-124G>A | - | IntronicSNV | - | 8/9 |
2-26413817-C-G | HADHA | c.*302G>C | - | 3-UTRSNV | 20/20 | - |
5-139936239-T-C | SRA1 | c.187+493A>G | - | IntronicSNV | - | 2/4 |
17-40706273-C-A | HSD17B1 | c.540-150C>A | - | IntronicSNV | - | 4/5 |
16-50733859-C-G | NOD2 | c.534C>G | p.Ser178Ser | Synonymous | 2/12 | - |
16-50733859-C-A | NOD2 | c.534C>A | p.Ser178Ser | Synonymous | 2/12 | - |
5-139933623-T-G | SRA1 | c.188-1854A>C | - | IntronicSNV | - | 2/4 |
13-32906729-A-C | BRCA2 | c.1114A>C | p.Asn372His | Missense | 10/27 | - |
2-38297515-G-T | CYP1B1 | c.*350C>A | - | 3-UTRSNV | 3/3 | - |
6-33540692-T-C | BAK1 | c.*888A>G | - | 3-UTRSNV | 6/6 | - |
6-33166034-A-G | RXRB | c.640+51T>C | - | IntronicSNV | - | 3/9 |
2-44104925-T-G | ABCG8 | c.1895T>G | p.Val632Gly | Missense | 13/13 | - |
10-8108592-T-C | GATA3 | c.924+2491T>C | - | IntronicSNV | - | 4/5 |
2-21259562-T-C | APOB | c.693+410A>G | - | IntronicSNV | - | 6/28 |
19-48654553-G-T | LIG1 | c.510C>A | p.Ala170Ala | Synonymous | 7/28 | - |
3-49450864-A-G | TCTA | c.269+321A>G | - | IntronicSNV | - | 2/2 |
1-119960376-G-T | HSD3B2 | c.143-1665G>T | - | IntronicSNV | - | 2/3 |
1-182543331-A-G | RNASEL | c.*1196T>C | - | 3-UTRSNV | 7/7 | - |
2-44104925-T-A | ABCG8 | c.1895T>A | p.Val632Asp | Missense | 13/13 | - |
2-44104925-T-C | ABCG8 | c.1895T>C | p.Val632Ala | Missense | 13/13 | - |
10-45869748-C-T | ALOX5 | c.21C>T | p.Thr7Thr | Synonymous | 1/14 | - |
14-104179267-T-C | XRCC3 | c.-316A>G | - | splice_region_variant,5_prime_UTR_variant | 2/10 | - |
10-131564998-A-G | MGMT | c.415-54A>G | - | intron_variant | - | 4/4 |
21-42804506-G-T | MX1 | c.105+404G>T | - | IntronicSNV | - | 7/18 |
21-42804506-G-A | MX1 | c.105+404G>A | - | IntronicSNV | - | 7/18 |
12-15370878-G-A | RERG | c.1-455C>T | - | IntronicSNV | - | 1/4 |
20-42302371-C-T | MYBL2 | c.21-75C>T | - | IntronicSNV | - | 1/13 |
3-125856695-C-A | ALDH1L1 | c.1185G>T | p.Leu395Leu | Synonymous | 10/23 | - |
14-21469151-T-C | SLC39A2 | c.343T>C | p.Phe115Leu | Missense | 4/4 | - |
17-59760996-A-G | BRIP1 | c.3411T>C | p.Tyr1137Tyr | Synonymous | 20/20 | - |
17-40705955-C-G | HSD17B1 | c.539+50C>G | - | IntronicSNV | - | 4/5 |
17-40705955-C-A | HSD17B1 | c.539+50C>A | - | IntronicSNV | - | 4/5 |
13-95815535-A-T | ABCC4 | c.2214-65T>A | - | IntronicSNV | - | 17/30 |
17-7530271-C-T | SAT2 | c.294G>A | p.Pro98Pro | Synonymous | 4/6 | - |
2-47703984-T-G | MSH2 | c.2210+274T>G | - | IntronicSNV | - | 13/15 |
20-4880308-G-A | SLC23A2 | c.375C>T | p.Ala125Ala | Synonymous | 6/17 | - |
20-4980740-C-T | SLC23A2 | c.-282+1312G>A | - | intron_variant | - | 1/16 |
20-42328776-C-T | MYBL2 | c.951+92C>T | - | IntronicSNV | - | 7/13 |
1-226032229-C-T | EPHX1 | c.1071C>T | p.Asn357Asn | Synonymous | 8/9 | - |
5-80093800-C-G | MSH3 | c.2655+5137C>G | - | IntronicSNV | - | 19/23 |
20-42337875-C-G | MYBL2 | c.1506-728C>G | - | IntronicSNV | - | 9/13 |
20-52786219-G-A | CYP24A1 | c.552C>T | p.Ala184Ala | Synonymous | 4/12 | - |
17-63528950-A-G | AXIN2 | c.2405+1080T>C | - | IntronicSNV | - | 10/10 |
17-63528950-A-C | AXIN2 | c.2405+1080T>G | - | IntronicSNV | - | 10/10 |
13-95815535-A-G | ABCC4 | c.2214-65T>C | - | IntronicSNV | - | 17/30 |
1-182554557-C-T | RNASEL | c.1385G>A | p.Arg462Gln | Missense | 2/7 | - |
6-160453978-A-G | IGF2R | c.1050A>G | p.Ser350Ser | Synonymous | 9/48 | - |
1-11863057-G-A | MTHFR | c.117C>T | p.Pro39Pro | Synonymous | 2/12 | - |
8-19823963-C-T | LPL | c.*1142C>T | - | 3-UTRSNV | 10/10 | - |
12-25400206-G-C | KRAS | c.1-1888C>G | - | IntronicSNV | - | 1/5 |
1-226014962-C-G | EPHX1 | c.1-1469C>G | - | IntronicSNV | - | 1/8 |
1-226014962-C-T | EPHX1 | c.1-1469C>T | - | IntronicSNV | - | 1/8 |
12-125287216-A-C | SCARB1 | c.1010-2428T>G | - | IntronicSNV | - | 7/12 |
2-24302246-C-T | TP53I3 | c.816+68G>A | - | IntronicSNV | - | 4/4 |
17-38173902-C-T | CSF3 | c.*690C>T | - | 3-UTRSNV | 4/4 | - |
17-38173902-C-G | CSF3 | c.*690C>G | - | 3-UTRSNV | 4/4 | - |
1-186645488-A-G | PTGS2 | c.970+111T>C | - | IntronicSNV | - | 7/9 |
21-46900410-C-T | COL18A1 | c.1968C>T | p.Phe656Phe | Synonymous | 11/41 | - |
3-46306700-T-C | CCR3 | c.105T>C | p.Tyr35Tyr | Synonymous | 3/3 | - |
19-17937429-A-G | JAK3 | c.*123T>C | - | 3-UTRSNV | 24/24 | - |
1-186645488-A-C | PTGS2 | c.970+111T>G | - | IntronicSNV | - | 7/9 |
4-142654432-A-T | IL15 | c.*431A>T | - | 3-UTRSNV | 10/10 | - |
11-108093833-G-A | ATM | c.-111G>A | - | 5_prime_UTR_variant | 1/63 | - |
9-95883865-G-C | NINJ1 | c.*657C>G | - | 3_prime_UTR_variant | 4/4 | - |
12-25388316-G-T | KRAS | c.112-7970C>A | - | IntronicSNV | - | 2/5 |
2-24305512-T-G | TP53I3 | c.406+243A>C | - | IntronicSNV | - | 2/4 |
3-119678802-A-G | GSK3B | c.283-12604T>C | - | IntronicSNV | - | 2/10 |
3-121994941-G-A | CASR | c.1608+52G>A | - | IntronicSNV | - | 5/6 |
12-25391239-G-C | KRAS | c.111+6969C>G | - | IntronicSNV | - | 2/5 |
11-2156930-G-C | IGF2 | c.1-177C>G | - | IntronicSNV | - | 1/3 |
19-7199978-C-G | INSR | c.653-15330G>C | - | IntronicSNV | - | 2/21 |
19-7199978-C-A | INSR | c.653-15330G>T | - | IntronicSNV | - | 2/21 |
9-95883865-G-T | NINJ1 | c.*657C>A | - | 3_prime_UTR_variant | 4/4 | - |
15-40532584-A-G | BUB1B-PAK6 | c.-200-216A>G | - | intron_variant | - | 1/10 |
10-54529480-G-A | MBL2 | c.305-405C>T | - | IntronicSNV | - | 2/3 |
3-187445257-C-T | BCL6 | c.1541-571G>A | - | IntronicSNV | - | 6/9 |
2-47673515-T-C | MSH2 | c.1386+719T>C | - | IntronicSNV | - | 8/15 |
4-100260789-T-C | ADH1C | c.1048A>G | p.Ile350Val | Missense | 8/9 | - |
4-100260789-T-A | ADH1C | c.1048A>T | p.Ile350Phe | Missense | 8/9 | - |
16-68867456-C-T | CDH1 | c.*54C>T | - | 3-UTRSNV | 16/16 | - |
3-187459088-T-C | BCL6 | c.-50+4110A>G | - | intron_variant | - | 1/9 |
3-187459088-T-G | BCL6 | c.-50+4110A>C | - | intron_variant | - | 1/9 |
1-226550741-C-T | PARP1 | c.2848+59G>A | - | IntronicSNV | - | 21/22 |
8-31024654-T-C | WRN | c.4099T>C | p.Cys1367Arg | Missense | 34/35 | - |
19-11242044-G-A | LDLR | c.*52G>A | - | 3-UTRSNV | 18/18 | - |
5-1287194-G-A | TERT | c.1574-4455C>T | - | IntronicSNV | - | 2/14 |
1-186643058-A-G | PTGS2 | c.*427T>C | - | 3-UTRSNV | 10/10 | - |
15-40995335-T-A | RAD51 | c.225+1936T>A | - | IntronicSNV | - | 3/9 |
20-54963325-G-C | AURKA | c.1-72C>G | - | IntronicSNV | 1/9 | - |
9-107564466-C-G | ABCA1 | c.4593-26G>C | - | IntronicSNV | - | 33/49 |
16-50751398-A-G | NOD2 | c.2630+513A>G | - | IntronicSNV | - | 6/11 |
3-186964300-C-T | MASP1 | c.1091-2891G>A | - | IntronicSNV | - | 8/15 |
7-87215114-A-C | ABCB1 | c.118-118T>G | - | IntronicSNV | - | 4/28 |
20-52786406-T-C | CYP24A1 | c.544-179A>G | - | IntronicSNV | - | 3/11 |
1-226550741-C-G | PARP1 | c.2848+59G>C | - | IntronicSNV | - | 21/22 |
15-41006987-G-A | RAD51 | c.436-4016G>A | - | IntronicSNV | - | 5/9 |
5-68531253-C-T | CDK7 | c.99C>T | p.Asn33Asn | Synonymous | 2/12 | - |
5-68531253-C-A | CDK7 | c.99C>A | p.Asn33Lys | Missense | 2/12 | - |
5-68531253-C-G | CDK7 | c.99C>G | p.Asn33Lys | Missense | 2/12 | - |
2-38286914-G-A | RMDN2 | c.1714-7211G>A | - | IntronicSNV | - | 10/10 |
15-99312741-A-G | IGF1R | c.640+61405A>G | - | IntronicSNV | - | 2/20 |
3-48215253-G-A | CDC25A | c.930+521C>T | - | IntronicSNV | - | 9/14 |
4-100266133-T-A | ADH1C | c.453A>T | p.Thr151Thr | Synonymous | 5/9 | - |
15-91353119-G-A | BLM | c.3874+630G>A | - | IntronicSNV | - | 20/21 |
2-216993478-A-G | XRCC5 | c.937+1081A>G | - | IntronicSNV | - | 8/20 |
5-7900833-T-G | MTRR | c.*662T>G | - | 3-UTRSNV | 15/15 | - |
5-42719239-A-C | GHR | c.1630A>C | p.Ile544Leu | Missense | 10/10 | - |
1-206945046-C-T | IL10 | c.166-286G>A | - | IntronicSNV | - | 1/4 |
3-187004183-T-C | MASP1 | c.6-339A>G | - | IntronicSNV | - | 1/15 |
19-7125297-G-A | INSR | c.3255C>T | p.His1085His | Synonymous | 17/22 | - |
11-102208390-G-C | BIRC3 | c.*557G>C | - | 3-UTRSNV | 9/9 | - |
1-206945046-C-A | IL10 | c.166-286G>T | - | IntronicSNV | - | 1/4 |
14-64699816-C-T | ESR2 | c.1406+1872G>A | - | IntronicSNV | - | 8/8 |
3-119542297-A-G | GSK3B | c.*3338T>C | - | 3-UTRSNV | 11/11 | - |
4-185550089-A-G | CASP3 | c.*337T>C | - | 3-UTRSNV | 8/8 | - |
2-217027560-G-A | XRCC5 | c.1834+789G>A | - | IntronicSNV | - | 16/20 |
6-117725622-G-A | ROS1 | c.290-31C>T | - | IntronicSNV | - | 4/42 |
5-131411460-T-C | CSF2 | c.350T>C | p.Ile117Thr | Missense | 4/4 | - |
8-23057181-C-T | TNFRSF10A | c.831+218G>A | - | IntronicSNV | - | 7/9 |
3-119619330-A-G | GSK3B | c.813+5272T>C | - | IntronicSNV | - | 7/10 |
17-7187123-T-A | SLC2A4 | c.390T>A | p.Asn130Lys | Missense | 4/11 | - |
17-7187123-T-C | SLC2A4 | c.390T>C | p.Asn130Asn | Synonymous | 4/11 | - |
12-12352066-A-G | LRP6 | c.647+4071T>C | - | IntronicSNV | - | 3/22 |
12-12352066-A-T | LRP6 | c.647+4071T>A | - | IntronicSNV | - | 3/22 |
16-69395434-A-G | TERF2 | c.1341-42T>C | - | IntronicSNV | - | 7/9 |
12-102823478-A-G | IGF1 | c.221-10010T>C | - | IntronicSNV | - | 2/3 |
9-21968159-G-A | CDKN2A | c.*69C>T | - | 3-UTRSNV | 3/3 | - |
6-160517481-C-T | IGF2R | c.6666C>T | p.Leu2222Leu | Synonymous | 45/48 | - |
6-159209212-G-A | EZR | c.97-977C>T | - | IntronicSNV | - | 2/12 |
12-102823478-A-T | IGF1 | c.221-10010T>A | - | IntronicSNV | - | 2/3 |
1-29190390-T-G | OPRD1 | c.*595T>G | - | IntergenicSNV | 3/3 | - |
1-29190390-T-A | OPRD1 | c.*595T>A | - | IntergenicSNV | 3/3 | - |
1-61610049-G-A | NFIA | c.559+55697G>A | - | IntronicSNV | - | 2/9 |
22-37603051-C-T | SSTR3 | c.792G>A | p.Ala264Ala | Synonymous | 2/2 | - |
12-1022679-A-G | RAD52 | c.1196-61T>C | - | IntronicSNV | - | 11/11 |
10-131565170-A-G | MGMT | c.533A>G | - | missense_variant | 5/5 | - |
14-65404899-G-T | CHURC1-FNTB | c.6+14055G>T | - | IntronicSNV | - | 2/12 |
14-65404899-G-A | CHURC1-FNTB | c.6+14055G>A | - | IntronicSNV | - | 2/12 |
14-65404899-G-C | CHURC1-FNTB | c.6+14055G>C | - | IntronicSNV | - | 2/12 |
22-38539604-A-G | PLA2G6 | c.426-309T>C | - | IntronicSNV | - | 3/15 |
10-8112143-T-C | GATA3 | c.1050+582T>C | - | IntronicSNV | - | 5/5 |
2-217524986-A-C | IGFBP2 | c.443-294A>C | - | IntronicSNV | - | 1/3 |
16-67977382-T-C | LCAT | c.155-267A>G | - | IntronicSNV | - | 1/5 |
8-63933190-G-A | GGH | c.698-3001C>T | - | IntronicSNV | - | 7/8 |
20-44757407-G-A | CD40 | c.676-114G>A | - | IntronicSNV | - | 8/8 |
2-113537352-T-G | IL1A | c.320-109A>C | - | IntronicSNV | - | 4/6 |
6-117639419-T-C | ROS1 | c.5941-4A>G | - | IntronicSNV | - | 36/42 |
1-101190173-C-T | VCAM1 | c.662-7C>T | - | IntronicSNV | - | 3/8 |
20-44757407-G-C | CD40 | c.676-114G>C | - | IntronicSNV | - | 8/8 |
13-32911888-A-C | BRCA2 | c.3396A>C | p.Lys1132Asn | Missense | 11/27 | - |
13-32911888-A-G | BRCA2 | c.3396A>G | p.Lys1132Lys | Synonymous | 11/27 | - |
13-25075859-C-T | PARP4 | c.246G>A | p.Arg82Arg | Synonymous | 3/34 | - |
3-189587274-A-G | TP63 | c.1212+79A>G | - | IntronicSNV | - | 9/13 |
17-41245237-A-G | BRCA1 | c.2311T>C | p.Leu771Leu | Synonymous | 10/23 | - |
19-7116963-T-C | INSR | c.*104A>G | - | 3-UTRSNV | 22/22 | - |
5-42667937-C-T | GHR | c.137-21055C>T | - | IntronicSNV | - | 3/9 |
1-70903941-T-C | CTH | c.1053-430T>C | - | IntronicSNV | - | 10/11 |
6-154372437-C-T | OPRM1 | c.290+11468C>T | - | IntronicSNV | - | 1/3 |
4-122740454-T-G | CCNA2 | c.1002+73A>C | - | IntronicSNV | - | 5/7 |
3-46414339-A-G | CCR5 | c.1-55A>G | - | IntronicSNV | - | 1/2 |
6-52849230-G-A | GSTA4 | c.414+32C>T | - | IntronicSNV | - | 5/6 |
7-87225046-G-A | ABCB1 | c.117+36C>T | - | IntronicSNV | - | 4/28 |
12-6445982-A-C | TNFRSF1A | c.40-2572T>G | - | IntronicSNV | - | 1/9 |
12-6445982-A-G | TNFRSF1A | c.40-2572T>C | - | IntronicSNV | - | 1/9 |
12-6445982-A-T | TNFRSF1A | c.40-2572T>A | - | IntronicSNV | - | 1/9 |
6-37141962-C-G | PIM1 | c.*95C>G | - | 3-UTRSNV | 6/6 | - |
2-190690951-G-C | PMS1 | c.582+8045G>C | - | IntronicSNV | - | 5/12 |
12-1021813-G-A | RAD52 | c.*744C>T | - | 3-UTRSNV | 12/12 | - |
6-1613686-A-G | FOXC1 | c.*1344A>G | - | 3-UTRSNV | 1/1 | - |
16-57009388-G-T | CETP | c.981+325G>T | - | IntronicSNV | - | 10/15 |
16-57009388-G-A | CETP | c.981+325G>A | - | IntronicSNV | - | 10/15 |
9-110081018-A-G | RAD23B | c.554-15A>G | - | IntronicSNV | - | 5/9 |
9-110084261-C-T | RAD23B | c.682-3C>T | - | IntronicSNV | - | 6/9 |
20-5099636-G-A | PCNA | c.222-124C>T | - | IntronicSNV | - | 2/6 |
5-118843012-G-A | HSD17B4 | c.1333+428G>A | - | IntronicSNV | - | 15/23 |
14-65411499-T-G | CHURC1-FNTB | c.6+20655T>G | - | IntronicSNV | - | 2/12 |
3-195800811-C-T | TFRC | c.424G>A | p.Gly142Ser | Missense | 4/19 | - |
1-70904068-A-G | CTH | c.1053-303A>G | - | IntronicSNV | - | 10/11 |
22-19949952-A-G | COMT | c.1-98A>G | - | IntronicSNV | - | 2/5 |
19-7114288-C-T | INSR | c.*2779G>A | - | 3-UTRSNV | 22/22 | - |
4-122739121-A-G | CCNA2 | c.1250+78T>C | - | IntronicSNV | - | 7/7 |
1-87328839-G-A | SELENOF | c.*318C>T | - | 3-UTRSNV | 5/5 | - |
3-119547062-A-C | GSK3B | c.1196-1360T>G | - | IntronicSNV | - | 10/10 |
5-42655353-C-G | GHR | c.136+26148C>G | - | IntronicSNV | - | 3/9 |
5-42655353-C-A | GHR | c.136+26148C>A | - | IntronicSNV | - | 3/9 |
5-131995964-A-G | IL13 | c.431A>G | p.Gln144Arg | Missense | 4/4 | - |
X-37658455-A-G | CYBB | c.804+118A>G | - | IntronicSNV | - | 7/12 |
15-51646793-A-T | GLDN | c.363+12549A>T | - | IntronicSNV | - | 1/9 |
14-20876253-A-G | TEP1 | c.346T>C | p.Ser116Pro | Missense | 2/55 | - |
5-131995843-T-A | IL13 | c.334-24T>A | - | IntronicSNV | - | 3/3 |
15-58822697-G-A | LIPC | c.89-7835G>A | - | IntronicSNV | - | 1/8 |
15-58822697-G-T | LIPC | c.89-7835G>T | - | IntronicSNV | - | 1/8 |
11-2158179-T-C | IGF2 | c.-7+1280A>G | - | intron_variant | - | 1/3 |
6-44232074-A-G | NFKBIE | c.365+645T>C | - | intron_variant | - | 1/5 |
1-87328308-C-T | SELENOF | c.*849G>A | - | 3-UTRSNV | 5/5 | - |
16-82129352-A-G | HSD17B2 | c.803-2328A>G | - | IntronicSNV | - | 4/4 |
3-119578880-C-T | GSK3B | c.1096+3386G>A | - | IntronicSNV | - | 9/10 |
20-54956707-A-T | AURKA | c.567-80T>A | - | IntronicSNV | - | 5/8 |
20-54956707-A-G | AURKA | c.567-80T>C | - | IntronicSNV | - | 5/8 |
2-190664638-A-C | PMS1 | c.315+3961A>C | - | IntronicSNV | - | 3/12 |
13-103528002-G-C | ERCC5 | c.3310G>C | p.Asp1104His | Missense | 15/15 | - |
16-89849480-C-T | FANCA | c.1501G>A | p.Gly501Ser | Missense | 16/43 | - |
21-42824733-G-A | MX1 | c.1695G>A | p.Gln565Gln | Synonymous | 18/19 | - |
3-41269152-A-T | CTNNB1 | c.1081+309A>T | - | IntronicSNV | - | 7/15 |
6-160494409-A-T | IGF2R | c.4855A>T | p.Arg1619Trp | Missense | 34/48 | - |
6-160494409-A-G | IGF2R | c.4855A>G | p.Arg1619Gly | Missense | 34/48 | - |
1-242030151-A-G | EXO1 | c.1061A>G | p.His354Arg | Missense | 9/14 | - |
7-55266417-T-C | EGFR | c.2709T>C | p.Thr903Thr | Synonymous | 23/28 | - |
2-128033327-C-A | ERCC3 | c.1731-2790G>T | - | IntronicSNV | - | 10/14 |
1-70887183-A-C | CTH | c.347-66A>C | - | IntronicSNV | - | 3/11 |
21-42824661-A-G | MX1 | c.1623A>G | p.Ala541Ala | Synonymous | 18/19 | - |
14-72412804-G-A | RGS6 | c.-21+12785G>A | - | intron_variant | - | 1/17 |
9-100459578-T-G | XPA | c.1-4A>C | - | 5-UTRSNV | 1/6 | - |
15-99478225-G-A | IGF1R | c.3129G>A | p.Glu1043Glu | Synonymous | 16/21 | - |
11-100974033-G-A | PGR | c.1790-11426C>T | - | IntronicSNV | - | 2/7 |
1-150808889-C-G | ARNT | c.522G>C | p.Val174Val | Synonymous | 6/21 | - |
5-132013963-A-C | IL4 | c.184-1443A>C | - | IntronicSNV | - | 2/3 |
1-206941864-A-G | IL10 | c.*117T>C | - | 3-UTRSNV | 5/5 | - |
2-190649958-G-A | PMS1 | c.-21+639G>A | - | intron_variant | - | 1/12 |
7-99303094-G-A | CYP3A7 | c.*29C>T | - | 3-UTRSNV | 13/13 | - |
1-23519633-A-G | HTR1D | c.1080T>C | p.Asn360Asn | Synonymous | 1/1 | - |
12-102827045-G-A | IGF1 | c.221-13577C>T | - | IntronicSNV | - | 2/3 |
17-7613708-T-C | EFNB3 | c.*814T>C | - | 3-UTRSNV | 5/5 | - |
17-7613708-T-A | EFNB3 | c.*814T>A | - | 3-UTRSNV | 5/5 | - |
5-138705588-A-T | SLC23A1 | c.*2107T>A | - | IntronicSNV | - | 14/14 |
5-138705588-A-C | SLC23A1 | c.*2107T>G | - | IntronicSNV | - | 14/14 |
5-138705588-A-G | SLC23A1 | c.*2107T>C | - | IntronicSNV | - | 14/14 |
2-190707034-T-C | PMS1 | c.583-1656T>C | - | IntronicSNV | - | 5/12 |
10-89726745-T-C | PTEN | c.*1516T>C | - | 3-UTRSNV | 9/9 | - |
19-7138828-G-T | INSR | c.2682+2860C>A | - | IntronicSNV | - | 13/21 |
13-25045158-G-A | PARP4 | c.1915-995C>T | - | IntronicSNV | - | 15/33 |
21-46934826-G-A | SLC19A1 | c.*64C>T | - | 3-UTRSNV | 6/6 | - |
5-112176756-T-A | APC | c.5465T>A | p.Val1822Asp | Missense | 16/16 | - |
5-112176756-T-G | APC | c.5465T>G | p.Val1822Gly | Missense | 16/16 | - |
2-113887207-T-C | IL1RN | c.180T>C | p.Ala60Ala | Synonymous | 4/6 | - |
1-172632057-A-G | FASLG | c.395-1417A>G | - | IntronicSNV | - | 2/3 |
2-47692281-C-T | MSH2 | c.1511-1516C>T | - | IntronicSNV | - | 9/15 |
12-121622239-C-T | P2RX7 | c.1422C>T | p.Pro474Pro | Synonymous | 13/13 | - |
1-226555302-A-G | PARP1 | c.2285T>C | p.Val762Ala | Missense | 17/23 | - |
12-15310339-C-T | RERG | c.62-36286G>A | - | IntronicSNV | - | 2/4 |
17-7613765-G-C | EFNB3 | c.*871G>C | - | 3-UTRSNV | 5/5 | - |
17-7613765-G-A | EFNB3 | c.*871G>A | - | 3-UTRSNV | 5/5 | - |
2-202901235-C-T | FZD7 | c.*140C>T | - | 3-UTRSNV | 1/1 | - |
10-8097368-G-A | GATA3 | c.1-251G>A | - | 5-UTRSNV | 2/6 | - |
7-6052556-G-T | AIMP2 | c.136-2221G>T | - | IntronicSNV | - | 1/3 |
6-152129077-T-A | ESR1 | c.30T>A | p.Ser10Ser | Synonymous | 1/8 | - |
1-65897951-G-A | LEPR | c.-21+6890G>A | - | intron_variant | - | 2/19 |
7-48017989-T-C | HUS1 | c.357+25A>G | - | IntronicSNV | - | 3/7 |
14-77794283-T-A | GSTZ1 | c.245T>A | p.Met82Lys | Missense | 5/9 | - |
7-6052556-G-A | AIMP2 | c.136-2221G>A | - | IntronicSNV | - | 1/3 |
6-26094367-G-A | HFE | c.1007-47G>A | - | IntronicSNV | - | 5/5 |
17-7580052-C-T | TP53 | c.1-140G>A | - | IntronicSNV | - | 1/10 |
6-26094367-G-T | HFE | c.1007-47G>T | - | IntronicSNV | - | 5/5 |
12-102871259-C-T | IGF1 | c.64-1682G>A | - | IntronicSNV | - | 1/3 |
12-102871259-C-G | IGF1 | c.64-1682G>C | - | IntronicSNV | - | 1/3 |
17-40705100-C-T | HSD17B1 | c.98-42C>T | - | IntronicSNV | - | 1/5 |
21-37507769-C-T | CBR3 | c.279C>T | p.Val93Val | Synonymous | 1/3 | - |
15-51621725-T-C | CYP19A1 | c.-39+8967A>G | - | intron_variant | - | 1/9 |
15-75016192-G-A | CYP1A1 | c.1-754C>T | - | IntronicSNV | - | 1/6 |
3-119640029-A-T | GSK3B | c.477+2191T>A | - | IntronicSNV | - | 4/10 |
4-110901198-G-A | EGF | c.2124G>A | p.Met708Ile | Missense | 14/23 | - |
1-110279602-T-C | GSTM3 | c.*91A>G | - | 3-UTRSNV | 9/9 | - |
10-54526622-A-G | MBL2 | c.*1275T>C | - | 3-UTRSNV | 4/4 | - |
12-68551409-C-T | IFNG | c.366+284G>A | - | IntronicSNV | - | 3/3 |
7-124492038-T-C | POT1 | c.477-33A>G | - | IntronicSNV | - | 9/17 |
16-27374180-T-C | IL4R | c.1507T>C | p.Ser503Pro | Missense | 11/11 | - |
15-75016192-G-C | CYP1A1 | c.1-754C>G | - | IntronicSNV | - | 1/6 |
20-4864946-C-G | SLC23A2 | c.642+453G>C | - | IntronicSNV | - | 8/16 |
9-21974218-A-G | CDKN2A | c.150+459T>C | - | IntronicSNV | - | 1/2 |
20-4864946-C-T | SLC23A2 | c.642+453G>A | - | IntronicSNV | - | 8/16 |
7-17373771-G-T | AHR | c.908+33G>T | - | IntronicSNV | - | 7/10 |
11-18531028-C-A | TSG101 | c.481+61G>T | - | IntronicSNV | - | 5/9 |
3-119571541-T-C | GSK3B | c.1097-9341A>G | - | IntronicSNV | - | 9/10 |
5-112176559-T-G | APC | c.5268T>G | p.Ser1756Ser | Synonymous | 16/16 | - |
15-75016192-G-T | CYP1A1 | c.1-754C>A | - | IntronicSNV | - | 1/6 |
5-149457678-G-A | CSF1R | c.726C>T | p.Thr242Thr | Synonymous | 5/22 | - |
6-132212108-T-A | ENPP1 | c.*457T>A | - | 3-UTRSNV | 25/25 | - |
10-135351137-G-C | CYP2E1 | c.1156-118G>C | - | IntronicSNV | - | 7/8 |
15-28230097-C-T | OCA2 | c.1364+113G>A | - | IntronicSNV | - | 13/23 |
10-101542578-C-T | ABCC2 | c.1-24C>T | - | 5-UTRSNV | 1/32 | - |
11-13514053-G-A | PTH | c.247C>T | p.Arg83* | Nonsense | 3/3 | - |
11-13514053-G-T | PTH | c.247C>A | p.Arg83Arg | Synonymous | 3/3 | - |
10-102305965-A-G | HIF1AN | c.830+159A>G | - | IntronicSNV | - | 5/7 |
16-23692405-A-G | PLK1 | c.722+26A>G | - | IntronicSNV | - | 3/9 |
15-58797499-C-T | LIPC | c.89-33033C>T | - | IntronicSNV | - | 1/8 |
8-9590755-T-A | TNKS | c.2148-34T>A | - | IntronicSNV | - | 14/26 |
20-42310811-A-T | MYBL2 | c.186+316A>T | - | IntronicSNV | - | 3/13 |
1-226019774-G-C | EPHX1 | c.364+114G>C | - | IntronicSNV | - | 3/8 |
5-7900712-G-A | MTRR | c.*541G>A | - | 3-UTRSNV | 15/15 | - |
17-26096597-G-A | NOS2 | c.1823C>T | p.Ser608Leu | Missense | 16/27 | - |
10-54529325-A-G | MBL2 | c.305-250T>C | - | IntronicSNV | - | 2/3 |
19-10396336-C-T | ICAM1 | c.*373C>T | - | 3-UTRSNV | 7/7 | - |
2-169802594-C-G | ABCB11 | c.2344-1123G>C | - | IntronicSNV | - | 19/27 |
3-186999772-T-G | MASP1 | c.237+3841A>C | - | IntronicSNV | - | 2/15 |
4-122742217-T-C | CCNA2 | c.487A>G | p.Ile163Val | Missense | 3/8 | - |
1-226015116-A-G | EPHX1 | c.1-1315A>G | - | IntronicSNV | - | 1/8 |
12-6928747-T-A | CD4 | c.*252T>A | - | 3-UTRSNV | 10/10 | - |
17-41244429-C-G | BRCA1 | c.3119G>C | p.Ser1040Thr | Missense | 10/23 | - |
17-41244429-C-T | BRCA1 | c.3119G>A | p.Ser1040Asn | Missense | 10/23 | - |
6-117639266-A-T | ROS1 | c.6005+85T>A | - | IntronicSNV | - | 37/42 |
2-227647360-C-T | IRS1 | c.*12366G>A | - | IntronicSNV | - | 1/1 |
2-190708073-C-T | PMS1 | c.583-617C>T | - | IntronicSNV | - | 5/12 |
16-27374400-A-G | IL4R | c.1727A>G | p.Gln576Arg | Missense | 11/11 | - |
12-25398018-T-C | KRAS | c.111+190A>G | - | IntronicSNV | - | 2/5 |
16-28603012-A-T | SGF29 | c.867A>T | p.Glu289Asp | Missense | 10/10 | - |
8-30973957-G-T | WRN | c.2361G>T | p.Leu787Leu | Synonymous | 20/35 | - |
5-1317949-C-T | CLPTM1L | c.*535G>A | - | IntergenicSNV | 17/17 | - |
15-58838010-A-C | LIPC | c.644A>C | p.Asn215Thr | Missense | 5/9 | - |
12-125320715-C-A | SCARB1 | c.127-18462G>T | - | IntronicSNV | - | 1/12 |
12-125320715-C-T | SCARB1 | c.127-18462G>A | - | IntronicSNV | - | 1/12 |
3-187445329-C-T | BCL6 | c.1541-643G>A | - | IntronicSNV | - | 6/9 |
3-187445329-C-G | BCL6 | c.1541-643G>C | - | IntronicSNV | - | 6/9 |
14-20859205-C-T | TEP1 | c.2148G>A | p.Ala716Ala | Synonymous | 14/55 | - |
4-185549130-G-T | CASP3 | c.*1296C>A | - | 3-UTRSNV | 8/8 | - |
3-41274270-A-T | CTNNB1 | c.1082-562A>T | - | IntronicSNV | - | 7/15 |
12-48244559-G-A | VDR | c.756-3968C>T | - | IntronicSNV | - | 7/9 |
2-190690725-C-T | PMS1 | c.582+7819C>T | - | IntronicSNV | - | 5/12 |
9-110086149-G-T | RAD23B | c.818-22G>T | - | IntronicSNV | - | 7/9 |
9-110086149-G-A | RAD23B | c.818-22G>A | - | IntronicSNV | - | 7/9 |
5-33998883-A-G | AMACR | c.602T>C | p.Leu201Ser | Missense | 4/5 | - |
5-33998883-A-C | AMACR | c.602T>G | p.Leu201Trp | Missense | 4/5 | - |
9-130579599-C-T | ENG | c.1687-117G>A | - | IntronicSNV | - | 12/13 |
16-68857441-T-C | CDH1 | c.2076T>C | p.Ala692Ala | Synonymous | 13/16 | - |
1-150799755-C-T | ARNT | c.1123-662G>A | - | IntronicSNV | - | 11/20 |
15-40545438-A-G | BUB1B-PAK6 | c.-58A>G | - | 5_prime_UTR_variant | 3/11 | - |
19-1106477-G-C | GPX4 | c.561+19G>C | - | IntronicSNV | - | 6/6 |
3-187006698-C-T | MASP1 | c.5+2718G>A | - | IntronicSNV | - | 1/15 |
14-65404116-C-T | CHURC1-FNTB | c.6+13272C>T | - | IntronicSNV | - | 2/12 |
7-48004962-C-T | HUS1 | c.834G>A | p.Ala278Ala | Synonymous | 8/8 | - |
20-5097976-T-G | PCNA | c.582+140A>C | - | IntronicSNV | - | 5/6 |
8-9537427-A-G | TNKS | c.995-34A>G | - | IntronicSNV | - | 3/26 |
8-9537427-A-C | TNKS | c.995-34A>C | - | IntronicSNV | - | 3/26 |
19-13054535-G-A | CALR | c.1062G>A | p.Glu354Glu | Synonymous | 9/9 | - |
8-9512109-T-G | TNKS | c.995-25352T>G | - | IntronicSNV | - | 3/26 |
4-122740454-T-C | CCNA2 | c.1002+73A>G | - | IntronicSNV | - | 5/7 |
10-8111621-C-T | GATA3 | c.1050+60C>T | - | IntronicSNV | - | 5/5 |
12-25368084-T-A | KRAS | c.*291A>T | - | IntronicSNV | - | 5/5 |
12-25368084-T-C | KRAS | c.*291A>G | - | IntronicSNV | - | 5/5 |
19-49459876-T-A | BAX | c.222+286T>A | - | IntronicSNV | - | 3/4 |
16-67976320-A-T | LCAT | c.694T>A | p.Ser232Thr | Missense | 5/6 | - |
8-9461433-C-A | TNKS | c.899-11659C>A | - | IntronicSNV | - | 2/26 |
8-9461433-C-T | TNKS | c.899-11659C>T | - | IntronicSNV | - | 2/26 |
21-44490214-G-T | CBS | c.210-1489C>A | - | IntronicSNV | - | 3/16 |
14-65412278-C-T | CHURC1-FNTB | c.6+21434C>T | - | IntronicSNV | - | 2/12 |
11-2156213-G-A | IGF2 | c.157+384C>T | - | IntronicSNV | - | 2/3 |
4-103450167-T-A | NFKB1 | c.40-826T>A | - | IntronicSNV | - | 2/23 |
7-124467470-T-C | POT1 | c.1202-111A>G | - | IntronicSNV | - | 15/17 |
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 | - |
1-226015299-A-G | EPHX1 | c.1-1132A>G | - | IntronicSNV | - | 1/8 |
3-119635393-C-G | GSK3B | c.478-372G>C | - | IntronicSNV | - | 4/10 |
3-119635393-C-A | GSK3B | c.478-372G>T | - | IntronicSNV | - | 4/10 |
13-25034384-C-T | PARP4 | c.2134-110G>A | - | IntronicSNV | - | 17/33 |
15-99443161-A-G | IGF1R | c.1247+311A>G | - | IntronicSNV | - | 5/20 |
8-53537316-A-G | RB1CC1 | c.4668T>C | p.Leu1556Leu | Synonymous | 23/24 | - |
4-24801976-T-C | SOD3 | c.*110T>C | - | 3-UTRSNV | 2/2 | - |
3-187003495-A-G | MASP1 | c.237+118T>C | - | IntronicSNV | - | 2/15 |
19-7211841-T-C | INSR | c.653-27193A>G | - | IntronicSNV | - | 2/21 |
10-8100647-C-T | GATA3 | c.621C>T | p.Ala207Ala | Synonymous | 3/6 | - |
16-89849583-C-T | FANCA | c.1471-73G>A | - | IntronicSNV | - | 15/42 |
5-1429969-T-C | SLC6A3 | c.653+2610A>G | - | IntronicSNV | - | 4/14 |
10-8111409-C-T | GATA3 | c.925-27C>T | - | IntronicSNV | - | 4/5 |
22-29191879-T-C | XBP1 | c.599+156A>G | - | IntronicSNV | - | 4/4 |
20-52788314-T-A | CYP24A1 | c.450-105A>T | - | IntronicSNV | - | 2/11 |
12-25358969-T-G | KRAS | c.*3881A>C | - | 3_prime_UTR_variant | 6/6 | - |
12-25392443-C-T | KRAS | c.111+5765G>A | - | IntronicSNV | - | 2/5 |
3-189604160-T-C | TP63 | c.1350-23T>C | - | IntronicSNV | - | 10/13 |
7-116199797-A-C | CAV1 | c.*456A>C | - | 3-UTRSNV | 3/3 | - |
15-51613529-G-C | CYP19A1 | c.-39+17163C>G | - | intron_variant | - | 1/9 |
20-54959296-G-C | AURKA | c.374+30C>G | - | IntronicSNV | - | 4/8 |
21-43732828-C-A | TFF3 | c.272-449G>T | - | IntronicSNV | - | 2/2 |
19-45409167-C-T | APOE | c.-24+69C>T | - | intron_variant | - | 1/3 |
12-25365366-T-C | KRAS | c.*3009A>G | - | IntronicSNV | 6/6 | - |
6-153439767-A-G | RGS17 | c.-26+12492T>C | - | intron_variant | - | 1/4 |
19-52468998-A-C | ZNF350 | c.708T>G | p.Cys236Trp | Missense | 5/5 | - |
19-52468998-A-G | ZNF350 | c.708T>C | p.Cys236Cys | Synonymous | 5/5 | - |
6-153439767-A-T | RGS17 | c.-26+12492T>A | - | intron_variant | - | 1/4 |
13-95858996-T-A | ABCC4 | c.951A>T | p.Arg317Ser | Missense | 8/31 | - |
11-102660874-G-A | MMP1 | c.*269C>T | - | 3-UTRSNV | 10/10 | - |
20-54959296-G-T | AURKA | c.374+30C>A | - | IntronicSNV | - | 4/8 |
12-25365366-T-A | KRAS | c.*3009A>T | - | IntronicSNV | 6/6 | - |
16-11642242-T-C | LITAF | c.*1251A>G | - | 3-UTRSNV | 4/4 | - |
6-117649988-T-C | ROS1 | c.5366+504A>G | - | IntronicSNV | - | 32/42 |
12-25393523-T-C | KRAS | c.111+4685A>G | - | IntronicSNV | - | 2/5 |
1-101203827-G-A | VCAM1 | c.2208G>A | p.Lys736Lys | Synonymous | 9/9 | - |
13-25009441-C-G | PARP4 | c.3838G>C | p.Gly1280Arg | Missense | 31/34 | - |
X-16168677-T-C | GRPR | c.663T>C | p.Ile221Ile | Synonymous | 2/3 | - |
8-32432369-G-C | NRG1 | c.38-20977G>C | - | IntronicSNV | - | 1/11 |
7-87229440-T-G | ABCB1 | c.61A>C | p.Asn21His | Missense | 3/29 | - |
7-87229440-T-C | ABCB1 | c.61A>G | p.Asn21Asp | Missense | 3/29 | - |
13-32929232-A-T | BRCA2 | c.7242A>T | p.Ser2414Ser | Synonymous | 14/27 | - |
7-17338430-A-G | AHR | c.1-459A>G | - | 5-UTRSNV | 1/11 | - |
12-100955378-C-G | NR1H4 | c.1067-285C>G | - | IntronicSNV | - | 9/10 |
13-32929232-A-G | BRCA2 | c.7242A>G | p.Ser2414Ser | Synonymous | 14/27 | - |
19-49442933-T-C | DHDH | c.594T>C | p.Ser198Ser | Synonymous | 4/7 | - |
6-87804685-T-C | CGA | c.-8+46A>G | - | intron_variant | - | 1/3 |
7-45932669-A-G | IGFBP1 | c.759A>G | p.Ile253Met | Missense | 4/4 | - |
11-108143182-C-A | ATM | c.3078-77C>A | - | IntronicSNV | - | 20/62 |
11-108143182-C-T | ATM | c.3078-77C>T | - | IntronicSNV | - | 20/62 |
17-67243289-A-T | ABCA5 | c.*389T>A | - | 3-UTRSNV | 38/38 | - |
22-37603051-C-G | SSTR3 | c.792G>C | p.Ala264Ala | Synonymous | 2/2 | - |
3-14199887-G-A | XPC | c.1496C>T | p.Ala499Val | Missense | 9/16 | - |
5-139931930-C-T | SRA1 | c.188-161G>A | - | IntronicSNV | - | 2/4 |
5-139931930-C-G | SRA1 | c.188-161G>C | - | IntronicSNV | - | 2/4 |
15-40987528-G-C | RAD51 | c.-98G>C | - | 5_prime_UTR_variant | 1/10 | - |
2-217070376-A-G | XRCC5 | c.*451A>G | - | 3-UTRSNV | 21/21 | - |
1-66036441-A-G | LEPR | c.326A>G | p.Lys109Arg | Missense | 4/20 | - |
10-104591182-G-T | CYP17A1 | c.1243+83C>A | - | IntronicSNV | - | 7/7 |
11-108234836-A-C | ATM | c.8851-973A>C | - | IntronicSNV | - | 61/62 |
11-108234836-A-T | ATM | c.8851-973A>T | - | IntronicSNV | - | 61/62 |
2-190713968-T-C | PMS1 | c.700-3413T>C | - | IntronicSNV | - | 6/12 |
6-152265522-G-C | ESR1 | c.975G>C | p.Pro325Pro | Synonymous | 4/8 | - |
19-11230881-T-C | LDLR | c.1959T>C | p.Val653Val | Synonymous | 13/18 | - |
17-38172942-A-G | CSF3 | c.351+58A>G | - | IntronicSNV | - | 3/3 |
11-117872086-G-T | IL10RA | c.*1730G>T | - | 3-UTRSNV | 7/7 | - |
4-110834110-A-G | EGF | c.1-382A>G | - | 5-UTRSNV | 1/23 | - |
10-101571528-C-T | ABCC2 | c.1967+169C>T | - | IntronicSNV | - | 15/31 |
8-9544786-A-G | TNKS | c.1107+6476A>G | - | IntronicSNV | - | 5/26 |
11-33880896-T-A | LMO2 | c.*6A>T | - | 3-UTRSNV | 6/6 | - |
2-47646968-C-T | MSH2 | c.1076+3400C>T | - | IntronicSNV | - | 6/15 |
19-48621036-C-G | LIG1 | c.2442G>C | p.Ala814Ala | Synonymous | 26/28 | - |
19-50169020-T-C | IRF3 | c.-141A>G | - | 5_prime_UTR_variant | 1/8 | - |
19-49438433-C-G | DHDH | c.202+65C>G | - | IntronicSNV | - | 2/6 |
3-186944705-A-G | MASP1 | c.1442-397T>C | - | IntronicSNV | - | 11/15 |
13-25009441-C-A | PARP4 | c.3838G>T | p.Gly1280Cys | Missense | 31/34 | - |
5-112175770-G-A | APC | c.4479G>A | p.Thr1493Thr | Synonymous | 16/16 | - |
2-38297170-C-A | CYP1B1 | c.*695G>T | - | 3-UTRSNV | 3/3 | - |
11-102668022-C-G | MMP1 | c.315G>C | p.Gly105Gly | Synonymous | 2/10 | - |
12-15260993-T-C | RERG | c.*1051A>G | - | 3-UTRSNV | 5/5 | - |
3-49396751-T-C | RHOA | c.*891A>G | - | 3-UTRSNV | 5/5 | - |
14-104165927-T-C | XRCC3 | c.562-14A>G | - | IntronicSNV | - | 7/9 |
2-190706092-A-C | PMS1 | c.583-2598A>C | - | IntronicSNV | - | 5/12 |
15-99503836-T-C | IGF1R | c.*3165T>C | - | 3-UTRSNV | 21/21 | - |
3-186954324-G-C | MASP1 | c.1303+4945C>G | - | IntronicSNV | - | 10/15 |
6-12296255-G-T | EDN1 | c.594G>T | p.Lys198Asn | Missense | 5/5 | - |
16-69743760-A-G | NQO1 | c.*1119T>C | - | 3-UTRSNV | 6/6 | - |
6-44226195-T-C | NFKBIE | c.*761A>G | - | 3-UTRSNV | 6/6 | - |
19-13050394-AG-CC | CALR | c.346_347delAGinsCC | p.Ser116Pro | Missense | 3/9 | - |
6-33540692-T-A | BAK1 | c.*888A>T | - | 3-UTRSNV | 6/6 | - |
6-33540692-T-G | BAK1 | c.*888A>C | - | 3-UTRSNV | 6/6 | - |
3-119263770-T-C | CD80 | c.101-56A>G | - | IntronicSNV | - | 2/6 |
15-91290366-G-C | BLM | c.1-257G>C | - | IntronicSNV | - | 1/21 |
16-89818732-C-G | FANCA | c.2982-102G>C | - | IntronicSNV | - | 30/42 |
15-75017176-C-A | CYP1A1 | c.-27+606G>T | - | intron_variant | - | 1/6 |
17-67109894-C-T | ABCA6 | c.1783-16G>A | - | IntronicSNV | - | 13/38 |
2-47671565-A-G | MSH2 | c.1277-1122A>G | - | IntronicSNV | - | 7/15 |
1-54375570-C-A | DIO1 | c.682-34C>A | - | IntronicSNV | - | 3/3 |
1-54375570-C-T | DIO1 | c.682-34C>T | - | IntronicSNV | - | 3/3 |
8-9461368-T-C | TNKS | c.899-11724T>C | - | IntronicSNV | - | 2/26 |
2-215645464-C-T | BARD1 | c.1134G>A | p.Arg378Arg | Synonymous | 4/11 | - |
2-215645464-C-G | BARD1 | c.1134G>C | p.Arg378Ser | Missense | 4/11 | - |
2-38285605-T-C | RMDN2 | c.1714-8520T>C | - | IntronicSNV | - | 10/10 |
X-37641526-C-A | CYBB | c.141+90C>A | - | IntronicSNV | - | 2/12 |
15-99443292-G-A | IGF1R | c.1247+442G>A | - | IntronicSNV | - | 5/20 |
10-50678369-T-C | ERCC6 | c.3637A>G | p.Arg1213Gly | Missense | 18/21 | - |
15-99443292-G-T | IGF1R | c.1247+442G>T | - | IntronicSNV | - | 5/20 |
16-27373872-A-T | IL4R | c.1199A>T | p.Glu400Val | Missense | 11/11 | - |
16-27373872-A-G | IL4R | c.1199A>G | p.Glu400Gly | Missense | 11/11 | - |
15-52643564-G-A | MYO5A | c.3736C>T | p.Arg1246Cys | Missense | 28/41 | - |
16-27374927-T-G | IL4R | c.2254T>G | p.Ser752Ala | Missense | 11/11 | - |
1-226015359-C-G | EPHX1 | c.1-1072C>G | - | IntronicSNV | - | 1/8 |
2-202901910-G-A | FZD7 | c.*815G>A | - | 3-UTRSNV | 1/1 | - |
16-69397393-T-C | TERF2 | c.1341-2001A>G | - | IntronicSNV | - | 7/9 |
1-226015359-C-T | EPHX1 | c.1-1072C>T | - | IntronicSNV | - | 1/8 |
10-81701722-T-G | SFTPD | c.538A>C | p.Thr180Pro | Missense | 5/8 | - |
10-81701722-T-C | SFTPD | c.538A>G | p.Thr180Ala | Missense | 5/8 | - |
16-11647492-T-C | LITAF | c.274A>G | p.Ile92Val | Missense | 3/4 | - |
5-35871190-G-A | IL7R | c.412G>A | p.Val138Ile | Missense | 4/8 | - |
19-11224265-A-G | LDLR | c.1413A>G | p.Arg471Arg | Synonymous | 10/18 | - |
4-185556618-C-T | CASP3 | c.54-46G>A | - | IntronicSNV | - | 3/7 |
2-190708982-C-A | PMS1 | c.699+176C>A | - | IntronicSNV | - | 6/12 |
11-100915894-T-C | PGR | c.2489-3061A>G | - | IntronicSNV | - | 6/7 |
3-119595503-A-T | GSK3B | c.814-148T>A | - | IntronicSNV | - | 7/10 |
9-101911656-A-G | TGFBR1 | c.*69A>G | - | 3-UTRSNV | 8/8 | - |
22-23615801-A-G | BCR | c.1975-20A>G | - | IntronicSNV | - | 7/22 |
22-23615801-A-C | BCR | c.1975-20A>C | - | IntronicSNV | - | 7/22 |
16-89842029-C-G | FANCA | c.1900+121G>C | - | IntronicSNV | - | 21/42 |
10-5247784-C-G | AKR1C4 | c.434C>G | p.Ser145Cys | Missense | 4/9 | - |
9-107562804-T-C | ABCA1 | c.4760A>G | p.Lys1587Arg | Missense | 35/50 | - |
6-87797904-T-C | CGA | c.15A>G | p.Arg5Arg | Synonymous | 2/4 | - |
11-100963743-C-T | PGR | c.1790-1136G>A | - | IntronicSNV | - | 2/7 |
8-9564600-T-C | TNKS | c.1456+93T>C | - | IntronicSNV | - | 8/26 |
3-119578788-A-T | GSK3B | c.1096+3478T>A | - | IntronicSNV | - | 9/10 |
8-53555069-A-G | RB1CC1 | c.4179T>C | p.Arg1393Arg | Synonymous | 18/24 | - |
8-53555069-A-T | RB1CC1 | c.4179T>A | p.Arg1393Arg | Synonymous | 18/24 | - |
2-113888900-T-A | IL1RN | c.327+166T>A | - | IntronicSNV | - | 5/5 |
5-112162854-T-G | APC | c.1458T>G | p.Tyr486* | Nonsense | 12/16 | - |
7-150758818-C-T | SLC4A2 | c.1-257C>T | - | IntronicSNV | - | 1/22 |
19-9958878-A-C | PIN1 | c.382+62A>C | - | IntronicSNV | - | 3/3 |
7-150758818-C-G | SLC4A2 | c.1-257C>G | - | IntronicSNV | - | 1/22 |
14-65404116-C-G | CHURC1-FNTB | c.6+13272C>G | - | IntronicSNV | - | 2/12 |
6-152382311-G-T | ESR1 | c.1369+52G>T | - | IntronicSNV | - | 6/7 |
12-25362552-A-C | KRAS | c.*298T>G | - | 3_prime_UTR_variant | 6/6 | - |
13-32890572-G-C | BRCA2 | c.1-26G>C | - | 5-UTRSNV | 2/27 | - |
15-91351868-A-C | BLM | c.3752-499A>C | - | IntronicSNV | - | 19/21 |
19-48668830-G-C | LIG1 | c.1-7C>G | - | 5-UTRSNV | 2/28 | - |
19-48668830-G-A | LIG1 | c.1-7C>T | - | 5-UTRSNV | 2/28 | - |
6-160494409-A-C | IGF2R | c.4855A>C | p.Arg1619Arg | Synonymous | 34/48 | - |
11-33881016-T-C | LMO2 | c.570A>G | p.Lys190Lys | Synonymous | 6/6 | - |
2-190678545-G-A | PMS1 | c.419-4198G>A | - | IntronicSNV | - | 4/12 |
11-100994675-G-A | PGR | c.1789+2063C>T | - | IntronicSNV | - | 2/7 |
17-67108362-C-G | ABCA6 | c.2094G>C | p.Met698Ile | Missense | 16/39 | - |
7-6048556-G-A | PMS2 | c.23+72C>T | - | IntronicSNV | - | 1/14 |
17-67108362-C-T | ABCA6 | c.2094G>A | p.Met698Ile | Missense | 16/39 | - |
1-159683438-C-A | CRP | c.552G>T | p.Leu184Leu | Synonymous | 2/2 | - |
7-93055753-A-G | CALCR | c.1340T>C | p.Leu447Pro | Missense | 14/14 | - |
1-159683438-C-T | CRP | c.552G>A | p.Leu184Leu | Synonymous | 2/2 | - |
22-30810387-T-C | SEC14L2 | c.665-1361T>C | - | IntronicSNV | - | 8/11 |
17-59763347-A-G | BRIP1 | c.2755T>C | p.Ser919Pro | Missense | 19/20 | - |
1-159683438-C-G | CRP | c.552G>C | p.Leu184Leu | Synonymous | 2/2 | - |
12-15305027-C-T | RERG | c.62-30974G>A | - | IntronicSNV | - | 2/4 |
2-47666838-T-C | MSH2 | c.1277-5849T>C | - | IntronicSNV | - | 7/15 |
10-45924023-G-A | ALOX5 | c.835-43G>A | - | IntronicSNV | - | 6/13 |
10-45924023-G-C | ALOX5 | c.835-43G>C | - | IntronicSNV | - | 6/13 |
2-47666838-T-G | MSH2 | c.1277-5849T>G | - | IntronicSNV | - | 7/15 |
17-7536527-G-A | SHBG | c.1066G>A | p.Asp356Asn | Missense | 8/8 | - |
20-54961463-T-C | AURKA | c.169A>G | p.Ile57Val | Missense | 3/9 | - |
1-43406113-G-A | SLC2A1 | c.114+2784C>T | - | IntronicSNV | - | 2/9 |
3-122001099-T-C | CASR | c.1732+16T>C | - | IntronicSNV | - | 6/6 |
19-10390658-C-G | ICAM1 | c.332-3499C>G | - | IntronicSNV | - | 2/6 |
5-42700044-A-G | GHR | c.558A>G | p.Gly186Gly | Synonymous | 6/10 | - |
1-161192511-C-G | APOA2 | c.185+197G>C | - | IntronicSNV | - | 3/3 |
16-50745199-C-A | NOD2 | c.1377C>A | p.Arg459Arg | Synonymous | 4/12 | - |
16-50745199-C-T | NOD2 | c.1377C>T | p.Arg459Arg | Synonymous | 4/12 | - |
10-8106459-C-T | GATA3 | c.924+358C>T | - | IntronicSNV | - | 4/5 |
3-41279440-A-G | CTNNB1 | c.2077-67A>G | - | IntronicSNV | - | 13/15 |
21-46932328-G-A | COL18A1 | c.*16G>A | - | 3-UTRSNV | 41/41 | - |
19-44515514-C-A | ZNF230 | c.1323C>A | p.Asp441Glu | Missense | 5/5 | - |
3-189587091-A-G | TP63 | c.1130-22A>G | - | IntronicSNV | - | 8/13 |
5-33998768-C-A | AMACR | c.717G>T | p.Gln239His | Missense | 4/5 | - |
17-41251931-G-A | BRCA1 | c.442-34C>T | - | IntronicSNV | - | 6/22 |
2-26413817-C-T | HADHA | c.*302G>A | - | 3-UTRSNV | 20/20 | - |
1-23518524-T-C | HTR1D | c.*1055A>G | - | 3-UTRSNV | 1/1 | - |
19-41829581-T-A | CCDC97 | c.*961T>A | - | 3-UTRSNV | 5/5 | - |
19-41829581-T-C | CCDC97 | c.*961T>C | - | 3-UTRSNV | 5/5 | - |
1-196655713-T-C | CFH | c.964+1346T>C | - | IntronicSNV | - | 7/21 |
2-202131587-T-G | CASP8 | c.305+73T>G | - | IntronicSNV | - | 3/9 |
11-18503159-C-T | TSG101 | c.1083+18G>A | - | IntronicSNV | - | 9/9 |
5-42436109-G-C | GHR | c.-12+12052G>C | - | intron_variant | - | 1/9 |
5-42489142-A-C | GHR | c.-12+65085A>C | - | intron_variant | - | 1/9 |
19-1053524-C-A | ABCA7 | c.3417C>A | p.Leu1139Leu | Synonymous | 24/47 | - |
19-1053524-C-G | ABCA7 | c.3417C>G | p.Leu1139Leu | Synonymous | 24/47 | - |
11-101000214-C-T | PGR | c.1-413G>A | - | 5-UTRSNV | 1/8 | - |
12-15262179-G-A | RERG | c.465C>T | p.Asn155Asn | Synonymous | 5/5 | - |
12-25385428-C-T | KRAS | c.112-5082G>A | - | IntronicSNV | - | 2/5 |
10-8101927-T-C | GATA3 | c.778+1123T>C | - | IntronicSNV | - | 3/5 |
16-50759547-A-T | NOD2 | c.2966+64A>T | - | IntronicSNV | - | 10/11 |
11-100974278-A-G | PGR | c.1790-11671T>C | - | IntronicSNV | - | 2/7 |
15-91351930-G-A | BLM | c.3752-437G>A | - | IntronicSNV | - | 19/21 |
19-13050910-C-T | CALR | c.441C>T | p.Ile147Ile | Synonymous | 4/9 | - |
19-13050910-C-A | CALR | c.441C>A | p.Ile147Ile | Synonymous | 4/9 | - |
5-79942357-G-T | DHFR | c.242+2851C>A | - | IntronicSNV | - | 3/5 |
5-79942357-G-A | DHFR | c.242+2851C>T | - | IntronicSNV | - | 3/5 |
12-25367742-A-G | KRAS | c.*633T>C | - | IntronicSNV | 6/6 | - |
14-20852029-A-C | TEP1 | c.3583T>G | p.Ser1195Ala | Missense | 25/55 | - |
14-20852029-A-G | TEP1 | c.3583T>C | p.Ser1195Pro | Missense | 25/55 | - |
11-102202851-T-C | BIRC3 | c.1324+879T>C | - | IntronicSNV | - | 6/8 |
5-42570190-C-A | GHR | c.70+4144C>A | - | IntronicSNV | - | 2/9 |
6-41903007-T-C | CCND3 | c.*671A>G | - | 3-UTRSNV | 5/5 | - |
6-87795259-A-T | CGA | c.*215T>A | - | 3-UTRSNV | 4/4 | - |
16-14029033-G-A | ERCC4 | c.1244G>A | p.Arg415Gln | Missense | 8/11 | - |
10-45900729-G-A | ALOX5 | c.432-6910G>A | - | IntronicSNV | - | 3/13 |
11-9072140-C-T | SCUBE2 | c.1639+13G>A | - | IntronicSNV | - | 14/21 |
2-215645545-C-A | BARD1 | c.1053G>T | p.Thr351Thr | Synonymous | 4/11 | - |
2-215645545-C-G | BARD1 | c.1053G>C | p.Thr351Thr | Synonymous | 4/11 | - |
2-215645545-C-T | BARD1 | c.1053G>A | p.Thr351Thr | Synonymous | 4/11 | - |
4-74606737-A-G | CXCL8 | c.64+298A>G | - | IntronicSNV | - | 1/3 |
4-74606737-A-C | CXCL8 | c.64+298A>C | - | IntronicSNV | - | 1/3 |
3-9801080-G-A | CAMK1 | c.912+92C>T | - | IntronicSNV | - | 10/11 |
1-183534935-C-G | NCF2 | c.925-21G>C | - | IntronicSNV | - | 9/14 |
5-42800808-C-T | CCDC152 | c.*925C>T | - | 3-UTRSNV | 9/9 | - |
15-51545454-A-G | CYP19A1 | c.1-10345T>C | - | IntronicSNV | - | 1/9 |
5-42499617-G-T | GHR | c.1-66360G>T | - | IntronicSNV | - | 1/9 |
18-51719126-G-C | MBD2 | c.703-3745C>G | - | IntronicSNV | - | 2/6 |
6-12294258-A-G | EDN1 | c.318A>G | p.Glu106Glu | Synonymous | 3/5 | - |
17-56348230-T-G | MPO | c.2031-6A>C | - | IntronicSNV | - | 11/11 |
17-56348230-T-C | MPO | c.2031-6A>G | - | IntronicSNV | - | 11/11 |
5-132018169-C-A | IL4 | c.361-9C>A | - | IntronicSNV | - | 3/3 |
10-5139815-C-G | AKR1C3 | c.369+73C>G | - | IntronicSNV | - | 3/8 |
2-44079671-C-T | ABCG8 | c.694+46C>T | - | IntronicSNV | - | 5/12 |
10-5139815-C-A | AKR1C3 | c.369+73C>A | - | IntronicSNV | - | 3/8 |
10-5139815-C-T | AKR1C3 | c.369+73C>T | - | IntronicSNV | - | 3/8 |
1-206944952-T-G | IL10 | c.166-192A>C | - | IntronicSNV | - | 1/4 |
15-58746830-T-C | LIPC | c.88+22511T>C | - | IntronicSNV | - | 1/8 |
1-206943297-A-G | IL10 | c.379-58T>C | - | IntronicSNV | - | 3/4 |
22-19948337-T-C | COMT | c.-91-385T>C | - | intron_variant | - | 1/5 |
12-25397032-G-A | KRAS | c.111+1176C>T | - | IntronicSNV | - | 2/5 |
6-117650131-A-T | ROS1 | c.5366+361T>A | - | IntronicSNV | - | 32/42 |
10-45924256-T-C | ALOX5 | c.981+44T>C | - | IntronicSNV | - | 7/13 |
6-1613686-A-T | FOXC1 | c.*1344A>T | - | 3-UTRSNV | 1/1 | - |
7-6441688-T-C | RAC1 | c.505+30T>C | - | IntronicSNV | - | 6/6 |
20-54968038-A-G | CSTF1 | c.-33+444A>G | - | intron_variant | - | 1/5 |
15-40557268-C-A | BUB1B-PAK6 | c.204+78C>A | - | IntronicSNV | - | 4/10 |
16-68867456-C-G | CDH1 | c.*54C>G | - | 3-UTRSNV | 16/16 | - |
16-68867456-C-A | CDH1 | c.*54C>A | - | 3-UTRSNV | 16/16 | - |
16-82118772-C-T | HSD17B2 | c.665-5735C>T | - | IntronicSNV | - | 3/4 |
11-2157044-C-G | IGF2 | c.1-291G>C | - | IntronicSNV | - | 1/3 |
11-2157044-C-A | IGF2 | c.1-291G>T | - | IntronicSNV | - | 1/3 |
12-125290856-A-T | SCARB1 | c.1009+1451T>A | - | IntronicSNV | - | 7/12 |
19-1221484-C-G | STK11 | c.862+145C>G | - | IntronicSNV | - | 6/9 |
3-122001246-C-T | CASR | c.1732+163C>T | - | IntronicSNV | - | 6/6 |
1-120054775-A-G | HSD3B1 | c.310+485A>G | - | IntronicSNV | - | 3/3 |
8-9564437-A-G | TNKS | c.1386A>G | p.Thr462Thr | Synonymous | 8/27 | - |
1-186643058-A-T | PTGS2 | c.*427T>A | - | 3-UTRSNV | 10/10 | - |
14-24718515-G-A | TGM1 | c.*4C>T | - | 3-UTRSNV | 15/15 | - |
11-100901473-A-G | PGR | c.*8374T>C | - | 3-UTRSNV | 8/8 | - |
2-169802594-C-T | ABCB11 | c.2344-1123G>A | - | IntronicSNV | - | 19/27 |
20-4898896-T-C | SLC23A2 | c.109-5272A>G | - | IntronicSNV | - | 3/16 |
3-119583676-T-C | GSK3B | c.910-1224A>G | - | IntronicSNV | - | 8/10 |
21-42821113-T-C | MX1 | c.1323T>C | p.Arg441Arg | Synonymous | 16/19 | - |
2-169883218-C-T | ABCB11 | c.-28+4517G>A | - | intron_variant | - | 1/27 |
21-33039320-A-G | SOD1 | c.240-251A>G | - | IntronicSNV | - | 3/4 |
3-119583676-T-A | GSK3B | c.910-1224A>T | - | IntronicSNV | - | 8/10 |
19-7261441-T-C | INSR | c.652+5915A>G | - | IntronicSNV | - | 2/21 |
10-45891484-A-G | ALOX5 | c.431+100A>G | - | IntronicSNV | - | 3/13 |
3-187445197-A-G | BCL6 | c.1541-511T>C | - | IntronicSNV | - | 6/9 |
15-41012695-C-A | RAD51 | c.530+1598C>A | - | IntronicSNV | - | 6/9 |
6-132172368-A-C | ENPP1 | c.517A>C | p.Lys173Gln | Missense | 4/25 | - |
6-132172368-A-G | ENPP1 | c.517A>G | p.Lys173Glu | Missense | 4/25 | - |
21-42804679-G-A | MX1 | c.105+577G>A | - | IntronicSNV | - | 7/18 |
9-130579810-C-G | ENG | c.1687-328G>C | - | IntronicSNV | - | 12/13 |
9-130579810-C-T | ENG | c.1687-328G>A | - | IntronicSNV | - | 12/13 |
1-186648197-C-T | PTGS2 | c.306G>A | p.Val102Val | Synonymous | 3/10 | - |
7-87229440-T-A | ABCB1 | c.61A>T | p.Asn21Tyr | Missense | 3/29 | - |
7-116200380-G-T | CAV1 | c.*1039G>T | - | 3-UTRSNV | 3/3 | - |
11-18505632-G-A | TSG101 | c.641-13C>T | - | IntronicSNV | - | 7/9 |
2-219000734-T-C | CXCR2 | c.*127T>C | - | 3-UTRSNV | 3/3 | - |
20-54944791-C-T | AURKA | c.*423G>A | - | 3-UTRSNV | 9/9 | - |
20-54944791-C-G | AURKA | c.*423G>C | - | 3-UTRSNV | 9/9 | - |
1-163116878-T-G | RGS5 | c.*254A>C | - | 3-UTRSNV | 5/5 | - |
1-29162465-G-A | OPRD1 | c.228-23001G>A | - | IntronicSNV | - | 1/2 |
7-116200380-G-A | CAV1 | c.*1039G>A | - | 3-UTRSNV | 3/3 | - |
4-142640538-T-A | IL15 | c.-280T>A | - | 5_prime_UTR_variant | 4/10 | - |
4-142640538-T-C | IL15 | c.-280T>C | - | 5_prime_UTR_variant | 4/10 | - |
21-46876083-A-G | COL18A1 | c.639A>G | p.Pro213Pro | Synonymous | 1/41 | - |
2-234681544-G-T | UGT1A1 | c.*339G>T | - | 3-UTRSNV | 5/5 | - |
2-234681544-G-C | UGT1A1 | c.*339G>C | - | 3-UTRSNV | 5/5 | - |
2-234681544-G-A | UGT1A1 | c.*339G>A | - | 3-UTRSNV | 5/5 | - |
3-119645976-A-G | GSK3B | c.367-3646T>C | - | IntronicSNV | - | 3/10 |
15-91290366-G-T | BLM | c.1-257G>T | - | IntronicSNV | - | 1/21 |
1-226589833-T-A | PARP1 | c.286+82A>T | - | IntronicSNV | - | 2/22 |
1-226589833-T-C | PARP1 | c.286+82A>G | - | IntronicSNV | - | 2/22 |
5-149450132-T-C | CSF1R | c.1085A>G | p.His362Arg | Missense | 8/22 | - |
4-142654547-T-C | IL15 | c.*546T>C | - | 3-UTRSNV | 10/10 | - |
2-190689771-G-A | PMS1 | c.582+6865G>A | - | IntronicSNV | - | 5/12 |
15-51558731-G-A | CYP19A1 | c.1-23622C>T | - | IntronicSNV | - | 1/9 |
8-53586706-A-T | RB1CC1 | c.701T>A | p.Met234Lys | Missense | 7/24 | - |
8-53586706-A-G | RB1CC1 | c.701T>C | p.Met234Thr | Missense | 7/24 | - |
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 |
16-1839023-G-A | NUBP2 | c.*308G>A | - | 3-UTRSNV | 7/7 | - |
5-34007709-A-G | AMACR | c.247+169T>C | - | IntronicSNV | - | 1/4 |
5-82648883-A-G | XRCC4 | c.894-67A>G | - | IntronicSNV | - | 7/7 |
5-78416416-C-T | BHMT | c.477+52C>T | - | IntronicSNV | - | 4/7 |
3-119643181-G-A | GSK3B | c.367-851C>T | - | IntronicSNV | - | 3/10 |
1-65897747-A-G | LEPR | c.-21+6686A>G | - | intron_variant | - | 2/19 |
11-100967572-T-C | PGR | c.1790-4965A>G | - | IntronicSNV | - | 2/7 |
21-42817177-G-A | MX1 | c.1009-198G>A | - | IntronicSNV | - | 13/18 |
20-46274089-T-G | NCOA3 | c.3253-1728T>G | - | IntronicSNV | - | 17/22 |
4-142654547-T-A | IL15 | c.*546T>A | - | 3-UTRSNV | 10/10 | - |
6-52842781-T-C | GSTA4 | c.*487A>G | - | 3-UTRSNV | 7/7 | - |
3-37053568-A-C | MLH1 | c.655A>C | p.Ile219Leu | Missense | 8/19 | - |
3-37053568-A-T | MLH1 | c.655A>T | p.Ile219Phe | Missense | 8/19 | - |
7-150752608-T-C | CDK5 | c.387+11A>G | - | IntronicSNV | - | 6/10 |
3-125826059-T-C | ALDH1L1 | c.2378A>G | p.Asp793Gly | Missense | 21/23 | - |
17-33331575-C-T | LIG3 | c.*50C>T | - | 3-UTRSNV | 20/20 | - |
3-37053568-A-G | MLH1 | c.655A>G | p.Ile219Val | Missense | 8/19 | - |
6-41905174-T-A | CCND3 | c.415-42A>T | - | IntronicSNV | - | 2/4 |
7-150752608-T-G | CDK5 | c.387+11A>C | - | IntronicSNV | - | 6/10 |
17-7534271-C-T | SHBG | c.393+84C>T | - | IntronicSNV | - | 3/7 |
11-108225661-A-T | ATM | c.8850+60A>T | - | IntronicSNV | - | 61/62 |
11-108225661-A-G | ATM | c.8850+60A>G | - | IntronicSNV | - | 61/62 |
3-119275625-A-G | CD80 | c.100+851T>C | - | IntronicSNV | - | 2/6 |
19-9958878-A-G | PIN1 | c.382+62A>G | - | IntronicSNV | - | 3/3 |
7-116435768-C-G | MET | c.3858C>G | p.Asp1286Glu | Missense | 20/21 | - |
2-190648805-G-T | ORMDL1 | c.-118+190C>A | - | intron_variant | - | 1/4 |
5-42667871-T-C | GHR | c.137-21121T>C | - | IntronicSNV | - | 3/9 |
5-42667871-T-A | GHR | c.137-21121T>A | - | IntronicSNV | - | 3/9 |
12-102799236-C-A | IGF1 | c.403-2892G>T | - | IntronicSNV | - | 3/3 |
1-183525452-T-A | NCF2 | c.1469-87A>T | - | IntronicSNV | - | 14/14 |
8-9579986-T-C | TNKS | c.1921+1931T>C | - | IntronicSNV | - | 12/26 |
8-9579986-T-A | TNKS | c.1921+1931T>A | - | IntronicSNV | - | 12/26 |
11-73715542-G-A | UCP3 | c.630C>T | p.Tyr210Tyr | Synonymous | 5/7 | - |
22-39629329-C-T | PDGFB | c.250+111G>A | - | IntronicSNV | - | 3/6 |
22-39629329-C-A | PDGFB | c.250+111G>T | - | IntronicSNV | - | 3/6 |
5-34008100-C-T | AMACR | c.25G>A | p.Val9Met | Missense | 1/5 | - |
3-186956223-T-G | MASP1 | c.1303+3046A>C | - | IntronicSNV | - | 10/15 |
12-6442346-A-G | TNFRSF1A | c.473-33T>C | - | IntronicSNV | - | 4/9 |
8-19819328-T-C | LPL | c.1323-298T>C | - | IntronicSNV | - | 8/9 |
6-154414375-A-C | OPRM1 | c.1164+1768A>C | - | IntronicSNV | - | 3/3 |
18-673086-A-T | TYMS | c.*89A>T | - | 3-UTRSNV | 7/7 | - |
13-103504517-T-C | ERCC5 | c.138T>C | p.His46His | Synonymous | 2/15 | - |
22-38560745-T-C | PLA2G6 | c.209+4480A>G | - | IntronicSNV | - | 2/15 |
11-100926860-G-A | PGR | c.2213-4561C>T | - | IntronicSNV | - | 4/7 |
8-73958033-C-T | TERF1 | c.1144-163C>T | - | IntronicSNV | - | 9/9 |
7-127881349-G-A | LEP | c.-39G>A | - | 5_prime_UTR_variant | 1/3 | - |
7-116397572-A-G | MET | c.1944A>G | p.Gln648Gln | Synonymous | 7/21 | - |
11-117872086-G-A | IL10RA | c.*1730G>A | - | 3-UTRSNV | 7/7 | - |
11-102668022-C-T | MMP1 | c.315G>A | p.Gly105Gly | Synonymous | 2/10 | - |
14-72419821-A-G | RGS6 | c.1-11688A>G | - | IntronicSNV | - | 1/17 |
14-72419821-A-C | RGS6 | c.1-11688A>C | - | IntronicSNV | - | 1/17 |
2-190694175-C-T | PMS1 | c.582+11269C>T | - | IntronicSNV | - | 5/12 |
2-47700957-C-T | MSH2 | c.1760-1207C>T | - | IntronicSNV | - | 11/15 |
5-80120361-T-C | MSH3 | c.2813+10801T>C | - | IntronicSNV | - | 20/23 |
16-89806347-A-T | FANCA | c.3934+55T>A | - | IntronicSNV | - | 39/42 |
4-103434253-T-C | NFKB1 | c.-8+11308T>C | - | intron_variant | - | 1/23 |
21-42821265-A-G | MX1 | c.1432+43A>G | - | IntronicSNV | - | 16/18 |
3-46411840-G-T | CCR5 | c.-301+151G>T | - | intron_variant | - | 1/2 |
1-237048676-G-T | MTR | c.2775+157G>T | - | IntronicSNV | - | 26/32 |
17-34207003-A-G | CCL5 | c.76+231T>C | - | IntronicSNV | - | 1/2 |
20-4854682-A-G | SLC23A2 | c.1002T>C | p.Asp334Asp | Synonymous | 11/17 | - |
20-44748099-C-A | CD40 | c.51+1066C>A | - | IntronicSNV | - | 1/8 |
15-51504811-A-C | CYP19A1 | c.1022-53T>G | - | IntronicSNV | - | 8/9 |
15-51504811-A-T | CYP19A1 | c.1022-53T>A | - | IntronicSNV | - | 8/9 |
8-73951902-A-G | TERF1 | c.1143+448A>G | - | IntronicSNV | - | 9/9 |
1-226026406-A-T | EPHX1 | c.416A>T | p.His139Leu | Missense | 4/9 | - |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
14-65407000-C-T | CHURC1-FNTB | c.6+16156C>T | - | IntronicSNV | - | 2/12 |
14-72425522-T-C | RGS6 | c.1-5987T>C | - | IntronicSNV | - | 1/17 |
18-673086-A-G | TYMS | c.*89A>G | - | 3-UTRSNV | 7/7 | - |
17-7533717-T-C | SHBG | c.112-17T>C | - | IntronicSNV | - | 1/7 |
17-7592560-C-T | WRAP53 | c.450C>T | p.Phe150Phe | Synonymous | 2/10 | - |
11-125497466-G-T | CHEK1 | c.66-36G>T | - | IntronicSNV | - | 2/12 |
3-12434608-G-T | PPARG | c.535+357G>T | - | IntronicSNV | - | 4/6 |
1-15834360-A-G | CASP9 | c.204+8T>C | - | IntronicSNV | - | 3/8 |
15-51502844-A-C | CYP19A1 | c.*161T>G | - | 3-UTRSNV | 10/10 | - |
3-121838319-G-A | CD86 | c.910G>A | p.Ala304Thr | Missense | 7/7 | - |
17-7583083-G-C | TP53 | c.1-3171C>G | - | IntronicSNV | - | 1/10 |
3-41272081-C-A | CTNNB1 | c.1082-2751C>A | - | IntronicSNV | - | 7/15 |
11-100932612-T-C | PGR | c.2212+566A>G | - | IntronicSNV | - | 4/7 |
20-54961541-A-C | AURKA | c.91T>G | p.Phe31Val | Missense | 3/9 | - |
4-103515597-G-C | NFKB1 | c.1211-452G>C | - | IntronicSNV | - | 12/23 |
20-54968735-G-T | CSTF1 | c.-33+1141G>T | - | intron_variant | - | 1/5 |
2-44079606-G-A | ABCG8 | c.675G>A | p.Val225Val | Synonymous | 5/13 | - |
8-42196441-C-T | POLB | c.62-89C>T | - | IntronicSNV | - | 1/13 |
8-42196441-C-G | POLB | c.62-89C>G | - | IntronicSNV | - | 1/13 |
14-65404442-A-C | CHURC1-FNTB | c.6+13598A>C | - | IntronicSNV | - | 2/12 |
5-118867173-G-C | HSD17B4 | c.1993+74G>C | - | IntronicSNV | - | 22/23 |
19-10395683-A-G | ICAM1 | c.1405A>G | p.Lys469Glu | Missense | 6/7 | - |
3-49460407-C-T | NICN1 | c.*1859G>A | - | 3-UTRSNV | 6/6 | - |
6-78172260-C-G | HTR1B | c.861G>C | p.Val287Val | Synonymous | 1/1 | - |
11-89011046-G-A | TYR | c.1185-6895G>A | - | IntronicSNV | - | 3/4 |
11-68169688-G-A | LRP5 | c.1585-1263G>A | - | IntronicSNV | - | 7/22 |
11-68169688-G-T | LRP5 | c.1585-1263G>T | - | IntronicSNV | - | 7/22 |
12-102857263-T-C | IGF1 | c.220+12158A>G | - | IntronicSNV | - | 2/3 |
10-131265452-C-T | MGMT | c.1-28C>T | - | IntergenicSNV | 1/5 | - |
12-15342870-A-G | RERG | c.61+27493T>C | - | IntronicSNV | - | 2/4 |
12-15342870-A-T | RERG | c.61+27493T>A | - | IntronicSNV | - | 2/4 |
1-183542387-T-C | NCF2 | c.542A>G | p.Lys181Arg | Missense | 5/15 | - |
3-41281388-T-G | CTNNB1 | c.*91T>G | - | 3_prime_UTR_variant | 16/16 | - |
16-89815217-C-T | FANCA | c.3240-42G>A | - | IntronicSNV | - | 32/42 |
2-216977028-A-G | XRCC5 | c.22-711A>G | - | IntronicSNV | - | 1/20 |
2-190727531-C-T | PMS1 | c.1857-938C>T | - | IntronicSNV | - | 9/12 |
2-47672475-T-G | MSH2 | c.1277-212T>G | - | IntronicSNV | - | 7/15 |
2-47672475-T-A | MSH2 | c.1277-212T>A | - | IntronicSNV | - | 7/15 |
11-100993846-C-T | PGR | c.1789+2892G>A | - | IntronicSNV | - | 2/7 |
4-103536261-C-T | NFKB1 | c.2750-1330C>T | - | IntronicSNV | - | 23/23 |
22-19942680-C-G | COMT | c.-91-6042C>G | - | intron_variant | - | 1/5 |
22-19942680-C-A | COMT | c.-91-6042C>A | - | intron_variant | - | 1/5 |
19-7184518-G-T | INSR | c.783C>A | p.Asp261Glu | Missense | 3/22 | - |
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 | - |
3-119691167-T-C | GSK3B | c.283-24969A>G | - | IntronicSNV | - | 2/10 |
20-54968639-T-G | CSTF1 | c.-33+1045T>G | - | intron_variant | - | 1/5 |
14-75747118-G-T | FOS | c.394-145G>T | - | IntronicSNV | - | 2/3 |
17-63531331-G-A | AXIN2 | c.2237+413C>T | - | IntronicSNV | - | 9/10 |
17-7578645-C-G | TP53 | c.376-91G>C | - | IntronicSNV | - | 4/10 |
3-189590825-G-A | TP63 | c.1349+41G>A | - | IntronicSNV | - | 10/13 |
2-47674284-T-G | MSH2 | c.1386+1488T>G | - | IntronicSNV | - | 8/15 |
12-25400206-G-T | KRAS | c.1-1888C>A | - | IntronicSNV | - | 1/5 |
18-673016-C-T | TYMS | c.*19C>T | - | 3-UTRSNV | 7/7 | - |
X-37670729-T-G | CYBB | c.*559T>G | - | 3-UTRSNV | 13/13 | - |
2-26420809-G-C | HADHA | c.1393-163C>G | - | IntronicSNV | - | 13/19 |
6-160494521-C-T | IGF2R | c.4947+20C>T | - | IntronicSNV | - | 34/47 |
5-79966197-G-A | MSH3 | c.792+69G>A | - | IntronicSNV | - | 4/23 |
4-100269045-G-A | ADH1C | c.19-42C>T | - | IntronicSNV | - | 1/8 |
5-7897319-G-A | MTRR | c.1911G>A | p.Ala637Ala | Synonymous | 14/15 | - |
1-15820618-A-G | CASP9 | c.800-122T>C | - | IntronicSNV | - | 7/8 |
12-53497927-C-G | SOAT2 | c.83-8C>G | - | IntronicSNV | - | 1/14 |
4-100262547-A-G | ADH1C | c.829-680T>C | - | IntronicSNV | - | 6/8 |
1-15820618-A-T | CASP9 | c.800-122T>A | - | IntronicSNV | - | 7/8 |
12-102806305-C-A | IGF1 | c.402+6982G>T | - | IntronicSNV | - | 3/3 |
12-102806305-C-T | IGF1 | c.402+6982G>A | - | IntronicSNV | - | 3/3 |
3-125825938-C-T | ALDH1L1 | c.2453+46G>A | - | IntronicSNV | - | 21/22 |
20-42336684-C-T | MYBL2 | c.1506-1919C>T | - | IntronicSNV | - | 9/13 |
20-42336684-C-G | MYBL2 | c.1506-1919C>G | - | IntronicSNV | - | 9/13 |
13-32959789-T-G | BRCA2 | c.9256+5507T>G | - | IntronicSNV | - | 24/26 |
3-39307256-C-T | CX3CR1 | c.745G>A | p.Val249Ile | Missense | 2/2 | - |
7-55266417-T-A | EGFR | c.2709T>A | p.Thr903Thr | Synonymous | 23/28 | - |
16-27375787-A-G | IL4R | c.*636A>G | - | 3-UTRSNV | 11/11 | - |
6-137519780-T-C | IFNGR1 | c.862-4A>G | - | IntronicSNV | - | 6/6 |
16-27373964-T-C | IL4R | c.1291T>C | p.Cys431Arg | Missense | 11/11 | - |
2-202050677-A-G | CASP10 | c.177A>G | p.Ser59Ser | Synonymous | 2/10 | - |
17-7559462-G-T | ATP1B2 | c.*249G>T | - | 3-UTRSNV | 7/7 | - |
17-7559462-G-A | ATP1B2 | c.*249G>A | - | 3-UTRSNV | 7/7 | - |
17-7559462-G-C | ATP1B2 | c.*249G>C | - | 3-UTRSNV | 7/7 | - |
3-41269152-A-G | CTNNB1 | c.1081+309A>G | - | IntronicSNV | - | 7/15 |
1-226570840-T-G | PARP1 | c.1056A>C | p.Lys352Asn | Missense | 8/23 | - |
1-226570840-T-C | PARP1 | c.1056A>G | p.Lys352Lys | Synonymous | 8/23 | - |
9-21970427-A-G | CDKN2A | c.457+474T>C | - | IntronicSNV | - | 2/2 |
15-40989021-T-C | RAD51 | c.-3+1398T>C | - | intron_variant | - | 1/9 |
3-12465488-C-A | PPARG | c.1186+6835C>A | - | IntronicSNV | - | 6/6 |
3-12465488-C-T | PPARG | c.1186+6835C>T | - | IntronicSNV | - | 6/6 |
3-186971296-A-G | MASP1 | c.745-193T>C | - | IntronicSNV | - | 5/15 |
15-51549835-G-A | CYP19A1 | c.1-14726C>T | - | IntronicSNV | - | 1/9 |
11-108163487-C-T | ATM | c.4578C>T | p.Pro1526Pro | Synonymous | 30/63 | - |
15-51634898-G-C | GLDN | c.363+654G>C | - | IntronicSNV | - | 1/9 |
10-45917092-A-G | ALOX5 | c.555-2397A>G | - | IntronicSNV | - | 4/13 |
12-25382186-T-G | KRAS | c.112-1840A>C | - | IntronicSNV | - | 2/5 |
19-48622375-C-T | LIG1 | c.2439+19G>A | - | IntronicSNV | - | 25/27 |
14-72412804-G-T | RGS6 | c.-21+12785G>T | - | intron_variant | - | 1/17 |
20-52776917-T-C | CYP24A1 | c.991-1255A>G | - | IntronicSNV | - | 7/11 |
9-107566877-C-A | ABCA1 | c.4559+30G>T | - | IntronicSNV | - | 32/49 |
9-107566877-C-G | ABCA1 | c.4559+30G>C | - | IntronicSNV | - | 32/49 |
12-112211833-T-C | ALDH2 | c.114+6933T>C | - | IntronicSNV | - | 1/12 |
15-79214215-C-A | CTSH | c.*257G>T | - | 3-UTRSNV | 12/12 | - |
X-66788225-G-A | AR | c.1616+21621G>A | - | IntronicSNV | - | 1/7 |
8-9600917-T-C | TNKS | c.2644-4617T>C | - | IntronicSNV | - | 17/26 |
21-34624917-A-G | IFNAR2 | c.541-50A>G | - | IntronicSNV | - | 6/8 |
10-6005674-G-T | IL15RA | c.382+32C>A | - | IntronicSNV | - | 3/6 |
10-6005674-G-A | IL15RA | c.382+32C>T | - | IntronicSNV | - | 3/6 |
11-100933412-C-A | PGR | c.1978G>T | p.Val660Leu | Missense | 4/8 | - |
11-100933412-C-G | PGR | c.1978G>C | p.Val660Leu | Missense | 4/8 | - |
17-7577407-A-C | TP53 | c.782+92T>G | - | IntronicSNV | - | 7/10 |
4-103488491-G-A | NFKB1 | c.407+199G>A | - | IntronicSNV | - | 6/23 |
19-45882962-T-G | PPP1R13L | c.*486A>C | - | 3-UTRSNV | 13/13 | - |
4-100266133-T-C | ADH1C | c.453A>G | p.Thr151Thr | Synonymous | 5/9 | - |
5-78427208-T-A | BHMT | c.*269T>A | - | 3-UTRSNV | 8/8 | - |
5-33994734-G-A | AMACR | c.739+4012C>T | - | IntronicSNV | - | 4/4 |
2-202130308-A-C | CASP8 | c.1-902A>C | - | IntronicSNV | - | 2/9 |
1-46032974-T-C | AKR1A1 | c.356+282T>C | - | IntronicSNV | - | 5/9 |
12-15261437-T-A | RERG | c.*607A>T | - | 3-UTRSNV | 5/5 | - |
6-33162082-T-A | RXRB | c.*377A>T | - | 3-UTRSNV | 10/10 | - |
5-34007709-A-C | AMACR | c.247+169T>G | - | IntronicSNV | - | 1/4 |
5-34007709-A-T | AMACR | c.247+169T>A | - | IntronicSNV | - | 1/4 |
2-113587433-C-G | IL1B | c.*505G>C | - | 3-UTRSNV | 7/7 | - |
16-89805977-G-A | FANCA | c.3935-16C>T | - | IntronicSNV | - | 39/42 |
2-21245367-A-G | APOB | c.2816+336T>C | - | IntronicSNV | - | 18/28 |
10-54528298-G-C | MBL2 | c.374-28C>G | - | IntronicSNV | - | 3/3 |
10-54528298-G-A | MBL2 | c.374-28C>T | - | IntronicSNV | - | 3/3 |
15-40995335-T-C | RAD51 | c.225+1936T>C | - | IntronicSNV | - | 3/9 |
11-13514505-C-T | PTH | c.1-103G>A | - | IntronicSNV | - | 1/2 |
6-52843524-T-G | GSTA4 | c.547-134A>C | - | IntronicSNV | - | 6/6 |
6-52843524-T-C | GSTA4 | c.547-134A>G | - | IntronicSNV | - | 6/6 |
6-52843524-T-A | GSTA4 | c.547-134A>T | - | IntronicSNV | - | 6/6 |
21-34609505-G-A | IFNAR2 | c.1-4723G>A | - | IntronicSNV | - | 1/8 |
10-43595968-A-C | RET | c.135A>C | p.Ala45Ala | Synonymous | 2/20 | - |
10-43595968-A-G | RET | c.135A>G | p.Ala45Ala | Synonymous | 2/20 | - |
2-47671565-A-T | MSH2 | c.1277-1122A>T | - | IntronicSNV | - | 7/15 |
1-70897183-G-T | CTH | c.725-583G>T | - | IntronicSNV | - | 7/11 |
7-150690176-C-T | NOS3 | c.1-716C>T | - | IntronicSNV | - | 1/26 |
13-95862873-G-A | ABCC4 | c.621+73C>T | - | IntronicSNV | - | 5/30 |
10-104595248-G-A | CYP17A1 | c.298-99C>T | - | IntronicSNV | - | 1/7 |
5-86697387-A-G | CCNH | c.760+132T>C | - | IntronicSNV | - | 6/8 |
5-42800724-A-G | CCDC152 | c.*841A>G | - | 3-UTRSNV | 9/9 | - |
1-161192316-G-A | APOA2 | c.186-4C>T | - | IntronicSNV | - | 3/3 |
5-1253744-G-A | TERT | c.*99C>T | - | 3-UTRSNV | 15/15 | - |
2-227655348-C-T | IRS1 | c.*4378G>A | - | IntronicSNV | - | 1/1 |
20-44748099-C-G | CD40 | c.51+1066C>G | - | IntronicSNV | - | 1/8 |
1-169701060-T-G | SELE | c.445A>C | p.Ser149Arg | Missense | 4/14 | - |
3-159710098-A-G | IL12A | c.265-701A>G | - | IntronicSNV | - | 2/6 |
3-159710098-A-C | IL12A | c.265-701A>C | - | IntronicSNV | - | 2/6 |
3-121922863-A-G | CASR | c.-243+20204A>G | - | intron_variant | - | 1/6 |
3-121922863-A-T | CASR | c.-243+20204A>T | - | intron_variant | - | 1/6 |
15-52667735-T-C | MYO5A | c.2421-78A>G | - | IntronicSNV | - | 19/40 |
9-100459578-T-C | XPA | c.1-4A>G | - | 5-UTRSNV | 1/6 | - |
7-6039129-T-C | PMS2 | c.538-223A>G | - | IntronicSNV | - | 5/14 |
8-16007177-C-G | MSR1 | c.979+563G>C | - | IntronicSNV | - | 7/8 |
19-1106477-G-A | GPX4 | c.561+19G>A | - | IntronicSNV | - | 6/6 |
5-132009710-C-T | IL4 | c.1-33C>T | - | 5-UTRSNV | 1/4 | - |
16-89833774-C-G | FANCA | c.2505-129G>C | - | IntronicSNV | - | 26/42 |
6-26091179-C-T | HFE | c.187C>T | p.His63Tyr | Missense | 2/6 | - |
10-90775291-C-T | FAS | c.*1084C>T | - | 3-UTRSNV | 9/9 | - |
1-206949365-A-T | IL19 | c.-35+4942A>T | - | intron_variant | - | 1/6 |
19-45409167-C-G | APOE | c.-24+69C>G | - | intron_variant | - | 1/3 |
19-49207257-T-C | FUT2 | c.*12T>C | - | 3-UTRSNV | 2/2 | - |
5-79966029-G-A | MSH3 | c.693G>A | p.Pro231Pro | Synonymous | 4/24 | - |
18-51681244-T-C | MBD2 | c.*450A>G | - | 3_prime_UTR_variant | 7/7 | - |
9-95886626-A-T | NINJ1 | c.*564T>A | - | IntronicSNV | 4/4 | - |
7-45957055-G-C | IGFBP3 | c.422-17C>G | - | IntronicSNV | - | 1/4 |
11-34470679-G-A | CAT | c.67-60G>A | - | IntronicSNV | - | 1/12 |
8-11702122-G-C | CTSB | c.*512C>G | - | 3-UTRSNV | 12/12 | - |
19-50162909-C-A | IRF3 | c.1280G>T | p.Ser427Ile | Missense | 8/8 | - |
19-48631408-C-T | LIG1 | c.1822-131G>A | - | IntronicSNV | - | 19/27 |
17-6902760-A-G | ALOX12 | c.782A>G | p.Gln261Arg | Missense | 6/14 | - |
17-41245466-G-A | BRCA1 | c.2082C>T | p.Ser694Ser | Synonymous | 10/23 | - |
1-15832543-T-A | CASP9 | c.413A>T | p.Gln138Leu | Missense | 5/9 | - |
1-15832543-T-C | CASP9 | c.413A>G | p.Gln138Arg | Missense | 5/9 | - |
14-104165927-T-A | XRCC3 | c.562-14A>T | - | IntronicSNV | - | 7/9 |
2-242291743-A-G | SEPT2 | c.*391A>G | - | 3_prime_UTR_variant | 13/13 | - |
9-137299949-C-A | RXRA | c.280-46C>A | - | IntronicSNV | - | 2/9 |
14-65409204-A-T | CHURC1-FNTB | c.6+18360A>T | - | IntronicSNV | - | 2/12 |
11-113296286-C-T | DRD2 | c.1-913G>A | - | IntronicSNV | - | 1/7 |
9-137321156-A-G | RXRA | c.1043+70A>G | - | IntronicSNV | - | 7/9 |
4-153270964-A-G | FBXW7 | c.230+230T>C | - | IntronicSNV | - | 2/10 |
3-119578788-A-G | GSK3B | c.1096+3478T>C | - | IntronicSNV | - | 9/10 |
1-196709774-G-T | CFH | c.2808G>T | p.Glu936Asp | Missense | 18/22 | - |
1-237048500-A-G | MTR | c.2756A>G | p.Asp919Gly | Missense | 26/33 | - |
15-40568685-A-T | BUB1B-PAK6 | c.*390A>T | - | 3-UTRSNV | 11/11 | - |
17-41251931-G-C | BRCA1 | c.442-34C>G | - | IntronicSNV | - | 6/22 |
17-41251931-G-T | BRCA1 | c.442-34C>A | - | IntronicSNV | - | 6/22 |
1-226026406-A-G | EPHX1 | c.416A>G | p.His139Arg | Missense | 4/9 | - |
12-25391064-A-C | KRAS | c.111+7144T>G | - | IntronicSNV | - | 2/5 |
15-40568685-A-G | BUB1B-PAK6 | c.*390A>G | - | 3-UTRSNV | 11/11 | - |
3-189585852-C-T | TP63 | c.992+121C>T | - | IntronicSNV | - | 7/13 |
5-82499307-G-A | XRCC4 | c.483-64G>A | - | IntronicSNV | - | 4/7 |
3-119568123-T-A | GSK3B | c.1097-5923A>T | - | IntronicSNV | - | 9/10 |
3-119568123-T-C | GSK3B | c.1097-5923A>G | - | IntronicSNV | - | 9/10 |
20-30307199-C-A | BCL2L1 | c.564+2259G>T | - | IntronicSNV | - | 2/2 |
11-100922202-G-A | PGR | c.2310C>T | p.His770His | Synonymous | 5/8 | - |
19-52468203-T-A | ZNF350 | c.1503A>T | p.Arg501Ser | Missense | 5/5 | - |
12-102827045-G-C | IGF1 | c.221-13577C>G | - | IntronicSNV | - | 2/3 |
7-17379110-G-A | AHR | c.1661G>A | p.Arg554Lys | Missense | 10/11 | - |
5-79950781-A-G | DHFR | c.1-473T>C | - | 5-UTRSNV | 1/6 | - |
5-79950781-A-T | DHFR | c.1-473T>A | - | 5-UTRSNV | 1/6 | - |
3-119663870-T-C | GSK3B | c.366+2245A>G | - | IntronicSNV | - | 3/10 |
4-103424193-A-G | NFKB1 | c.-8+1248A>G | - | intron_variant | - | 1/23 |
11-33906484-G-T | LMO2 | c.-335-3051C>A | - | intron_variant | - | 1/5 |
12-25383813-A-G | KRAS | c.112-3467T>C | - | IntronicSNV | - | 2/5 |
21-42824449-C-T | MX1 | c.1510-99C>T | - | IntronicSNV | - | 17/18 |
6-31540313-A-T | LTA | c.-10+90A>T | - | intron_variant | - | 1/3 |
22-38563572-G-A | PLA2G6 | c.209+1653C>T | - | IntronicSNV | - | 2/15 |
20-44748099-C-T | CD40 | c.51+1066C>T | - | IntronicSNV | - | 1/8 |
11-102235141-G-A | BIRC2 | c.1123+694G>A | - | IntronicSNV | - | 5/8 |
3-186938956-C-T | MASP1 | c.1810-34G>A | - | IntronicSNV | - | 14/15 |
16-27373872-A-C | IL4R | c.1199A>C | p.Glu400Ala | Missense | 11/11 | - |
1-211751060-A-G | SLC30A1 | c.622+273T>C | - | IntronicSNV | - | 1/1 |
5-112168065-A-G | APC | c.1744-2583A>G | - | IntronicSNV | - | 14/15 |
15-51613529-G-A | CYP19A1 | c.-39+17163C>T | - | intron_variant | - | 1/9 |
11-9051406-T-C | SCUBE2 | c.2332+25A>G | - | IntronicSNV | - | 18/21 |
11-9051406-T-A | SCUBE2 | c.2332+25A>T | - | IntronicSNV | - | 18/21 |
11-9051406-T-G | SCUBE2 | c.2332+25A>C | - | IntronicSNV | - | 18/21 |
15-58839337-G-A | LIPC | c.808+1163G>A | - | IntronicSNV | - | 5/8 |
4-103424193-A-T | NFKB1 | c.-8+1248A>T | - | intron_variant | - | 1/23 |
20-54968159-G-A | CSTF1 | c.-33+565G>A | - | intron_variant | - | 1/5 |
20-54968159-G-T | CSTF1 | c.-33+565G>T | - | intron_variant | - | 1/5 |
4-110927865-A-T | EGF | c.3169-1443A>T | - | IntronicSNV | - | 21/22 |
16-14038552-G-A | ERCC4 | c.1905-28G>A | - | IntronicSNV | - | 9/10 |
8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
2-47709704-T-C | MSH2 | c.2635-214T>C | - | IntronicSNV | - | 15/15 |
3-119804136-G-C | GSK3B | c.88+8058C>G | - | IntronicSNV | - | 1/10 |
16-57000284-G-A | CETP | c.234-3014G>A | - | IntronicSNV | - | 2/15 |
1-183525452-T-C | NCF2 | c.1469-87A>G | - | IntronicSNV | - | 14/14 |
1-183525452-T-G | NCF2 | c.1469-87A>C | - | IntronicSNV | - | 14/14 |
3-121980284-C-T | CASR | c.493-91C>T | - | IntronicSNV | - | 3/6 |
15-79214215-C-T | CTSH | c.*257G>A | - | 3-UTRSNV | 12/12 | - |
17-63534538-C-A | AXIN2 | c.1060-77G>T | - | IntronicSNV | - | 4/10 |
12-125339228-A-T | SCARB1 | c.126+8913T>A | - | IntronicSNV | - | 1/12 |
19-50168871-G-A | IRF3 | c.-9+17C>T | - | intron_variant | - | 1/7 |
8-19819536-T-G | LPL | c.1323-90T>G | - | IntronicSNV | - | 8/9 |
13-32890572-G-T | BRCA2 | c.1-26G>T | - | 5-UTRSNV | 2/27 | - |
4-153294875-T-C | FBXW7 | c.147+8466A>G | - | IntronicSNV | - | 1/10 |
11-100934367-G-A | PGR | c.1907-884C>T | - | IntronicSNV | - | 3/7 |
2-47703500-T-C | MSH2 | c.2006-6T>C | - | IntronicSNV | - | 12/15 |
2-47703500-T-A | MSH2 | c.2006-6T>A | - | IntronicSNV | - | 12/15 |
2-47703500-T-G | MSH2 | c.2006-6T>G | - | IntronicSNV | - | 12/15 |
22-19969696-C-T | ARVCF | c.211-82G>A | - | IntronicSNV | - | 3/19 |
16-89844276-G-C | FANCA | c.1826+933C>G | - | IntronicSNV | - | 20/42 |
16-57000284-G-C | CETP | c.234-3014G>C | - | IntronicSNV | - | 2/15 |
3-119809605-G-A | GSK3B | c.88+2589C>T | - | IntronicSNV | - | 1/10 |
3-119804136-G-A | GSK3B | c.88+8058C>T | - | IntronicSNV | - | 1/10 |
6-33541719-A-G | BAK1 | c.532-35T>C | - | IntronicSNV | - | 5/5 |
4-153275395-C-T | FBXW7 | c.148-4119G>A | - | IntronicSNV | - | 1/10 |
3-119675051-C-T | GSK3B | c.283-8853G>A | - | IntronicSNV | - | 2/10 |
12-25362777-A-T | KRAS | c.*73T>A | - | 3_prime_UTR_variant | 6/6 | - |
12-25362777-A-G | KRAS | c.*73T>C | - | 3_prime_UTR_variant | 6/6 | - |
19-18497141-T-G | GDF15 | c.142T>G | p.Ser48Ala | Missense | 1/2 | - |
19-18497141-T-C | GDF15 | c.142T>C | p.Ser48Pro | Missense | 1/2 | - |
19-18497141-T-A | GDF15 | c.142T>A | p.Ser48Thr | Missense | 1/2 | - |
17-7583083-G-A | TP53 | c.1-3171C>T | - | IntronicSNV | - | 1/10 |
12-53497698-A-G | SOAT2 | c.83-237A>G | - | IntronicSNV | - | 1/14 |
5-82648943-G-A | XRCC4 | c.894-7G>A | - | IntronicSNV | - | 7/7 |
7-150757397-A-G | SLC4A2 | c.-64+548A>G | - | intron_variant | - | 1/22 |
8-19812812-C-T | LPL | c.776-540C>T | - | IntronicSNV | - | 5/9 |
10-131506190-C-T | MGMT | c.250C>T | p.Leu84Phe | Missense | 3/5 | - |
X-16168467-T-C | GRPR | c.453T>C | p.Ser151Ser | Synonymous | 2/3 | - |
5-131822133-T-C | IRF1 | c.545-68A>G | - | IntronicSNV | - | 6/9 |
10-45924256-T-A | ALOX5 | c.981+44T>A | - | IntronicSNV | - | 7/13 |
22-30793137-G-A | SEC14L2 | c.32G>A | p.Arg11Lys | Missense | 1/12 | - |
2-217554213-T-C | IGFBP5 | c.337+4949A>G | - | IntronicSNV | - | 1/3 |
19-7166541-A-G | INSR | c.1611-126T>C | - | IntronicSNV | - | 7/21 |
2-38295456-T-A | CYP1B1 | c.*2409A>T | - | 3-UTRSNV | 3/3 | - |
2-47698702-A-G | MSH2 | c.1759+501A>G | - | IntronicSNV | - | 11/15 |
3-119813282-A-G | GSK3B | c.1-1001T>C | - | IntergenicSNV | 1/11 | - |
12-15304410-G-A | RERG | c.62-30357C>T | - | IntronicSNV | - | 2/4 |
13-108861913-A-G | LIG4 | c.1704T>C | p.Asp568Asp | Synonymous | 2/2 | - |
17-40705955-C-T | HSD17B1 | c.539+50C>T | - | IntronicSNV | - | 4/5 |
14-20872881-G-T | TEP1 | c.921C>A | p.Asn307Lys | Missense | 5/55 | - |
15-41024508-G-C | RAD51 | c.*1132G>C | - | IntergenicSNV | 10/10 | - |
21-46957794-T-G | SLC19A1 | c.80A>C | p.His27Pro | Missense | 2/6 | - |
11-102666164-T-C | MMP1 | c.781+19A>G | - | IntronicSNV | - | 5/9 |
11-2154188-G-A | IGF2 | c.*29C>T | - | 3-UTRSNV | 4/4 | - |
11-2154188-G-C | IGF2 | c.*29C>G | - | 3-UTRSNV | 4/4 | - |
19-45856144-G-A | ERCC2 | c.1832-70C>T | - | IntronicSNV | - | 19/22 |
3-119627247-T-C | GSK3B | c.716-2548A>G | - | IntronicSNV | - | 6/10 |
1-226019633-T-C | EPHX1 | c.337T>C | p.Tyr113His | Missense | 3/9 | - |
15-99344881-G-T | IGF1R | c.641-89673G>T | - | IntronicSNV | - | 2/20 |
16-69752464-C-T | NQO1 | c.8-27G>A | - | IntronicSNV | - | 1/5 |
16-69752464-C-A | NQO1 | c.8-27G>T | - | IntronicSNV | - | 1/5 |
16-69752464-C-G | NQO1 | c.8-27G>C | - | IntronicSNV | - | 1/5 |
15-40991153-A-G | RAD51 | c.87+110A>G | - | IntronicSNV | - | 2/9 |
8-27401964-A-C | EPHX2 | c.1593A>C | p.Pro531Pro | Synonymous | 19/19 | - |
19-44055898-C-T | XRCC1 | c.1083-59G>A | - | IntronicSNV | - | 9/16 |
19-44055898-C-G | XRCC1 | c.1083-59G>C | - | IntronicSNV | - | 9/16 |
21-46957794-T-C | SLC19A1 | c.80A>G | p.His27Arg | Missense | 2/6 | - |
22-37603390-C-T | SSTR3 | c.453G>A | p.Ser151Ser | Synonymous | 2/2 | - |
7-116339282-G-A | MET | c.144G>A | p.Ala48Ala | Synonymous | 2/21 | - |
19-9951916-C-T | PIN1 | c.271+2592C>T | - | IntronicSNV | - | 2/3 |
3-119263680-C-T | CD80 | c.135G>A | p.Val45Val | Synonymous | 3/7 | - |
3-119263680-C-G | CD80 | c.135G>C | p.Val45Val | Synonymous | 3/7 | - |
6-159202184-C-T | EZR | c.698+2368G>A | - | IntronicSNV | - | 6/12 |
15-40991153-A-T | RAD51 | c.87+110A>T | - | IntronicSNV | - | 2/9 |
5-74646255-T-A | HMGCR | c.780+56T>A | - | IntronicSNV | - | 8/19 |
11-68196961-C-T | LRP5 | c.3638-82C>T | - | IntronicSNV | - | 16/22 |
9-21971989-C-G | CDKN2A | c.151-782G>C | - | IntronicSNV | - | 1/2 |
5-33994943-G-C | AMACR | c.739+3803C>G | - | IntronicSNV | - | 4/4 |
11-69466737-C-T | CCND1 | c.*687C>T | - | 3-UTRSNV | 5/5 | - |
3-186954324-G-A | MASP1 | c.1303+4945C>T | - | IntronicSNV | - | 10/15 |
10-5994694-A-C | IL15RA | c.*364T>G | - | 3-UTRSNV | 7/7 | - |
3-187442527-C-A | BCL6 | c.1977+202G>T | - | IntronicSNV | - | 9/9 |
5-118827601-C-T | HSD17B4 | c.715-194C>T | - | IntronicSNV | - | 9/23 |
15-51529779-G-A | CYP19A1 | c.146-573C>T | - | IntronicSNV | - | 2/9 |
12-25396035-C-T | KRAS | c.111+2173G>A | - | IntronicSNV | - | 2/5 |
1-23518524-T-G | HTR1D | c.*1055A>C | - | 3-UTRSNV | 1/1 | - |
15-51613652-C-T | CYP19A1 | c.-39+17040G>A | - | intron_variant | - | 1/9 |
15-51613652-C-A | CYP19A1 | c.-39+17040G>T | - | intron_variant | - | 1/9 |
12-58162739-A-G | METTL1 | c.*40T>C | - | 3-UTRSNV | 6/6 | - |
2-26413917-C-T | HADHA | c.*202G>A | - | 3-UTRSNV | 20/20 | - |
2-26413917-C-G | HADHA | c.*202G>C | - | 3-UTRSNV | 20/20 | - |
19-48621036-C-T | LIG1 | c.2442G>A | p.Ala814Ala | Synonymous | 26/28 | - |
16-88529631-G-A | ZFPM1 | c.40+9545G>A | - | IntronicSNV | - | 1/9 |
6-137519588-A-G | IFNGR1 | c.1050T>C | p.Ser350Ser | Synonymous | 7/7 | - |
2-74429192-C-T | MTHFD2 | c.101+3323C>T | - | IntronicSNV | - | 1/7 |
21-44473691-C-T | CBS | c.*299G>A | - | 3-UTRSNV | 17/17 | - |
16-89836865-A-G | FANCA | c.2222+107T>C | - | IntronicSNV | - | 24/42 |
15-58822785-T-A | LIPC | c.89-7747T>A | - | IntronicSNV | - | 1/8 |
15-58822785-T-C | LIPC | c.89-7747T>C | - | IntronicSNV | - | 1/8 |
15-41006523-G-A | RAD51 | c.436-4480G>A | - | IntronicSNV | - | 5/9 |
3-39307162-G-A | CX3CR1 | c.839C>T | p.Thr280Met | Missense | 2/2 | - |
12-25397702-C-T | KRAS | c.111+506G>A | - | IntronicSNV | - | 2/5 |
3-12434608-G-A | PPARG | c.535+357G>A | - | IntronicSNV | - | 4/6 |
10-101604207-C-G | ABCC2 | c.3972C>G | p.Ile1324Met | Missense | 28/32 | - |
10-101604207-C-T | ABCC2 | c.3972C>T | p.Ile1324Ile | Synonymous | 28/32 | - |
4-185561177-T-A | CASP3 | c.1-1570A>T | - | IntronicSNV | - | 2/7 |
4-185561177-T-G | CASP3 | c.1-1570A>C | - | IntronicSNV | - | 2/7 |
6-152129077-T-C | ESR1 | c.30T>C | p.Ser10Ser | Synonymous | 1/8 | - |
10-104597152-A-T | CYP17A1 | c.1-34T>A | - | 5-UTRSNV | 1/8 | - |
10-104597152-A-G | CYP17A1 | c.1-34T>C | - | 5-UTRSNV | 1/8 | - |
5-138714159-G-A | SLC23A1 | c.1191+109C>T | - | IntronicSNV | - | 10/14 |
1-20304962-C-G | PLA2G2A | c.96G>C | p.Thr32Thr | Synonymous | 4/6 | - |
6-152420095-G-A | ESR1 | c.1782G>A | p.Thr594Thr | Synonymous | 8/8 | - |
12-48239675-C-T | VDR | c.1024+443G>A | - | IntronicSNV | - | 9/9 |
15-91334179-G-A | BLM | c.3019+105G>A | - | IntronicSNV | - | 15/21 |
18-51688955-C-T | MBD2 | c.1109+1938G>A | - | IntronicSNV | - | 5/6 |
5-42495835-A-C | GHR | c.1-70142A>C | - | IntronicSNV | - | 1/9 |
12-125328375-G-A | SCARB1 | c.126+19766C>T | - | IntronicSNV | - | 1/12 |
1-20304962-C-T | PLA2G2A | c.96G>A | p.Thr32Thr | Synonymous | 4/6 | - |
11-2158179-T-G | IGF2 | c.-7+1280A>C | - | intron_variant | - | 1/3 |
6-160468278-A-G | IGF2R | c.2139A>G | p.Thr713Thr | Synonymous | 16/48 | - |
4-142640462-C-T | IL15 | c.-287-69C>T | - | intron_variant | - | 3/9 |
14-77794283-T-C | GSTZ1 | c.245T>C | p.Met82Thr | Missense | 5/9 | - |
5-149456811-G-A | CSF1R | c.889+28C>T | - | IntronicSNV | - | 6/21 |
2-21225281-C-T | APOB | c.13013G>A | p.Ser4338Asn | Missense | 29/29 | - |
15-40568823-C-T | BUB1B-PAK6 | c.*528C>T | - | 3-UTRSNV | 11/11 | - |
15-40568823-C-A | BUB1B-PAK6 | c.*528C>A | - | 3-UTRSNV | 11/11 | - |
12-102802239-T-C | IGF1 | c.403-5895A>G | - | IntronicSNV | - | 3/3 |
21-42817930-G-A | MX1 | c.1135G>A | p.Val379Ile | Missense | 15/19 | - |
2-227660544-C-T | IRS1 | c.2911G>A | p.Gly971Arg | Missense | 1/2 | - |
2-227660544-C-G | IRS1 | c.2911G>C | p.Gly971Arg | Missense | 1/2 | - |
12-25398018-T-A | KRAS | c.111+190A>T | - | IntronicSNV | - | 2/5 |
5-74655451-C-T | HMGCR | c.2457+70C>T | - | IntronicSNV | - | 18/19 |
8-16035302-T-C | MSR1 | c.103+93A>G | - | IntronicSNV | - | 2/8 |
8-16035302-T-A | MSR1 | c.103+93A>T | - | IntronicSNV | - | 2/8 |
15-99344881-G-A | IGF1R | c.641-89673G>A | - | IntronicSNV | - | 2/20 |
17-59763465-T-C | BRIP1 | c.2637A>G | p.Glu879Glu | Synonymous | 19/20 | - |
19-45924362-G-C | ERCC1 | c.321+74C>G | - | IntronicSNV | - | 3/9 |
12-12291479-G-C | LRP6 | c.3398-11C>G | - | IntronicSNV | - | 15/22 |
12-12291479-G-A | LRP6 | c.3398-11C>T | - | IntronicSNV | - | 15/22 |
17-26096473-C-A | NOS2 | c.1859+88G>T | - | IntronicSNV | - | 16/26 |
X-37669694-A-G | CYBB | c.1587-350A>G | - | IntronicSNV | - | 12/12 |
5-131995843-T-C | IL13 | c.334-24T>C | - | IntronicSNV | - | 3/3 |
20-36965617-A-C | BPI | c.*31A>C | - | 3-UTRSNV | 15/15 | - |
15-99312741-A-T | IGF1R | c.640+61405A>T | - | IntronicSNV | - | 2/20 |
5-42483877-G-A | GHR | c.-12+59820G>A | - | intron_variant | - | 1/9 |
19-1053575-T-G | ABCA7 | c.3423+45T>G | - | IntronicSNV | - | 24/46 |
7-124499003-T-A | POT1 | c.309+8A>T | - | IntronicSNV | - | 8/17 |
7-124499003-T-C | POT1 | c.309+8A>G | - | IntronicSNV | - | 8/17 |
20-4917985-C-T | SLC23A2 | c.1-4777G>A | - | IntronicSNV | - | 2/16 |
14-75745626-C-T | FOS | c.1-60C>T | - | 5-UTRSNV | 1/4 | - |
1-201869257-G-A | LMOD1 | c.884C>T | p.Thr295Met | Missense | 2/3 | - |
5-7889304-C-T | MTRR | c.1243C>T | p.Arg415Cys | Missense | 9/15 | - |
4-74607055-C-T | CXCL8 | c.65-204C>T | - | IntronicSNV | - | 1/3 |
20-4899088-C-T | SLC23A2 | c.109-5464G>A | - | IntronicSNV | - | 3/16 |
3-121968552-C-T | CASR | c.1-4485C>T | - | IntronicSNV | - | 1/6 |
2-190668880-C-A | PMS1 | c.316-1498C>A | - | IntronicSNV | - | 3/12 |
12-15310064-G-T | RERG | c.62-36011C>A | - | IntronicSNV | - | 2/4 |
12-15310064-G-A | RERG | c.62-36011C>T | - | IntronicSNV | - | 2/4 |
12-6928747-T-C | CD4 | c.*252T>C | - | 3-UTRSNV | 10/10 | - |
3-186972327-A-G | MASP1 | c.745-1224T>C | - | IntronicSNV | - | 5/15 |
1-226019774-G-A | EPHX1 | c.364+114G>A | - | IntronicSNV | - | 3/8 |
15-58860963-C-G | LIPC | c.1437C>G | p.Thr479Thr | Synonymous | 9/9 | - |
15-58860963-C-A | LIPC | c.1437C>A | p.Thr479Thr | Synonymous | 9/9 | - |
16-67976320-A-C | LCAT | c.694T>G | p.Ser232Ala | Missense | 5/6 | - |
2-113537223-C-A | IL1A | c.340G>T | p.Ala114Ser | Missense | 5/7 | - |
20-52788314-T-C | CYP24A1 | c.450-105A>G | - | IntronicSNV | - | 2/11 |
13-95858996-T-C | ABCC4 | c.951A>G | p.Arg317Arg | Synonymous | 8/31 | - |
15-91351868-A-T | BLM | c.3752-499A>T | - | IntronicSNV | - | 19/21 |
11-117869878-C-T | IL10RA | c.1259C>T | p.Ser420Leu | Missense | 7/7 | - |
19-50902331-T-C | POLD1 | c.202+21T>C | - | IntronicSNV | - | 2/26 |
X-66862843-A-G | AR | c.1617-255A>G | - | IntronicSNV | - | 1/7 |
3-41242338-C-T | CTNNB1 | c.-49+1177C>T | - | intron_variant | - | 1/15 |
2-191841759-G-T | STAT1 | c.1874-8C>A | - | IntronicSNV | - | 21/24 |
2-191841759-G-A | STAT1 | c.1874-8C>T | - | IntronicSNV | - | 21/24 |
8-9579743-A-C | TNKS | c.1921+1688A>C | - | IntronicSNV | - | 12/26 |
12-119632307-A-G | HSPB8 | c.*644A>G | - | 3-UTRSNV | 3/3 | - |
19-1104078-G-C | GPX4 | c.36G>C | p.Pro12Pro | Synonymous | 1/7 | - |
19-1104078-G-A | GPX4 | c.36G>A | p.Pro12Pro | Synonymous | 1/7 | - |
10-8106747-G-C | GATA3 | c.924+646G>C | - | IntronicSNV | - | 4/5 |
6-31540313-A-G | LTA | c.-10+90A>G | - | intron_variant | - | 1/3 |
5-112162854-T-C | APC | c.1458T>C | p.Tyr486Tyr | Synonymous | 12/16 | - |
2-217504112-A-G | IGFBP2 | c.442+5424A>G | - | IntronicSNV | - | 1/3 |
18-51719126-G-T | MBD2 | c.703-3745C>A | - | IntronicSNV | - | 2/6 |
5-112176559-T-A | APC | c.5268T>A | p.Ser1756Ser | Synonymous | 16/16 | - |
3-119263680-C-A | CD80 | c.135G>T | p.Val45Val | Synonymous | 3/7 | - |
17-41234470-A-G | BRCA1 | c.4308T>C | p.Ser1436Ser | Synonymous | 12/23 | - |
19-18497024-G-C | GDF15 | c.25G>C | p.Val9Leu | Missense | 1/2 | - |
19-18497024-G-A | GDF15 | c.25G>A | p.Val9Met | Missense | 1/2 | - |
15-51540387-G-A | CYP19A1 | c.1-5278C>T | - | IntronicSNV | - | 1/9 |
1-70896967-A-G | CTH | c.725-799A>G | - | IntronicSNV | - | 7/11 |
19-1221484-C-T | STK11 | c.862+145C>T | - | IntronicSNV | - | 6/9 |
8-42213256-G-A | POLB | c.422+171G>A | - | IntronicSNV | - | 7/13 |
17-59939105-C-T | BRIP1 | c.1-205G>A | - | IntronicSNV | 1/20 | - |
20-54961541-A-T | AURKA | c.91T>A | p.Phe31Ile | Missense | 3/9 | - |
14-20859013-G-A | TEP1 | c.2256+84C>T | - | IntronicSNV | - | 14/54 |
4-142642121-A-G | IL15 | c.1-181A>G | - | IntronicSNV | - | 4/9 |
2-215632192-G-A | BARD1 | c.1568+14C>T | - | IntronicSNV | - | 6/10 |
2-190731832-A-G | PMS1 | c.2343-693A>G | - | IntronicSNV | - | 10/12 |
22-19924021-A-G | TXNRD2 | c.103+5203T>C | - | IntronicSNV | - | 1/17 |
18-672792-C-T | TYMS | c.805-68C>T | - | IntronicSNV | - | 6/6 |
12-25401822-T-C | KRAS | c.-12+1863A>G | - | intron_variant | - | 1/5 |
20-5099516-G-A | PCNA | c.222-4C>T | - | IntronicSNV | - | 2/6 |
7-130137692-A-G | MEST | c.262-85A>G | - | IntronicSNV | - | 3/11 |
3-46412559-C-T | CCR5 | c.-12+80C>T | - | intron_variant | - | 2/2 |
2-113591275-A-G | IL1B | c.100-123T>C | - | IntronicSNV | - | 3/6 |
3-41242338-C-A | CTNNB1 | c.-49+1177C>A | - | intron_variant | - | 1/15 |
21-44485350-G-A | CBS | c.699C>T | p.Tyr233Tyr | Synonymous | 8/17 | - |
5-131396478-C-T | IL3 | c.79C>T | p.Pro27Ser | Missense | 1/5 | - |
14-75747258-T-C | FOS | c.394-5T>C | - | IntronicSNV | - | 2/3 |
1-237048562-G-A | MTR | c.2775+43G>A | - | IntronicSNV | - | 26/32 |
1-237048562-G-T | MTR | c.2775+43G>T | - | IntronicSNV | - | 26/32 |
19-13049540-T-C | CALR | c.47T>C | p.Val16Ala | Missense | 1/9 | - |
15-99312854-A-G | IGF1R | c.640+61518A>G | - | IntronicSNV | - | 2/20 |
15-99312854-A-C | IGF1R | c.640+61518A>C | - | IntronicSNV | - | 2/20 |
5-7889216-G-A | MTRR | c.1155G>A | p.Leu385Leu | Synonymous | 9/15 | - |
11-108093208-A-T | NPAT | c.37+19T>A | - | IntronicSNV | - | 1/17 |