Rank | Symbol | Variant Number |
---|---|---|
1 | BRCA2 | 6715 |
2 | BRCA1 | 6473 |
3 | MSH2 | 6210 |
4 | TP53 | 5321 |
5 | USH2A | 5145 |
6 | TTN | 4993 |
7 | CFTR | 4356 |
8 | ATM | 4354 |
9 | APC | 4219 |
10 | EGFR | 3645 |
11 | TG | 3209 |
12 | TUBA1A | 3120 |
13 | NF1 | 3069 |
14 | ABCA1 | 2833 |
15 | SMARCA4 | 2554 |
16 | TET2 | 2527 |
17 | NOTCH1 | 2507 |
18 | GC | 2344 |
19 | PTEN | 2333 |
20 | EGR1 | 2315 |
21 | PIK3CA | 2243 |
22 | SI | 2186 |
23 | MUC16 | 2182 |
24 | KMT2D | 2024 |
25 | KMT2C | 2018 |
26 | ARID1A | 1988 |
27 | POLE | 1975 |
28 | LRP1B | 1951 |
29 | DNMT3A | 1862 |
30 | PC | 1790 |
31 | ABCA4 | 1773 |
32 | KIT | 1757 |
33 | DMD | 1748 |
34 | ERBB2 | 1726 |
35 | MSH6 | 1714 |
36 | MAPK1 | 1694 |
37 | BRAF | 1653 |
38 | FAT1 | 1623 |
39 | RB1 | 1621 |
40 | KCNQ1 | 1607 |
41 | HR | 1593 |
42 | ALK | 1576 |
43 | TSC2 | 1573 |
44 | LDLR | 1549 |
45 | VWF | 1548 |
46 | CREBBP | 1533 |
47 | PKD1 | 1504 |
48 | GAA | 1490 |
49 | RYR1 | 1479 |
50 | FBN1 | 1472 |
Rank | Variant ID | Symbol | cDot | pDot | Consequence | Reference Count |
---|---|---|---|---|---|---|
1 | 7-140453136-A-T | BRAF | c.1799T>A | p.V600E | Missense | 16368 |
2 | 7-55249071-C-T | EGFR | c.2369C>T | p.T790M | Missense | 7282 |
3 | 7-55259515-T-G | EGFR | c.2573T>G | p.L858R | Missense | 6688 |
4 | 12-25398284-C-T | KRAS | c.35G>A | p.G12D | Missense | 5584 |
5 | 9-5073770-G-T | JAK2 | c.1849G>T | p.V617F | Missense | 3805 |
6 | 12-25398284-C-A | KRAS | c.35G>T | p.G12V | Missense | 3391 |
7 | 12-25398285-C-A | KRAS | c.34G>T | p.G12C | Missense | 2855 |
8 | 3-178952085-A-G | PIK3CA | c.3140A>G | p.H1047R | Missense | 2547 |
9 | 11-27679916-C-T | BDNF | c.196G>A | p.V66M | Missense | 2513 |
10 | 2-209113112-C-T | IDH1 | c.395G>A | p.R132H | Missense | 2455 |
11 | 22-19951271-G-A | COMT | c.472G>A | p.V158M | Missense | 2247 |
12 | 12-40734202-G-A | LRRK2 | c.6055G>A | p.G2019S | Missense | 2236 |
13 | 3-178936091-G-A | PIK3CA | c.1633G>A | p.E545K | Missense | 2229 |
14 | 12-25398281-C-T | KRAS | c.38G>A | p.G13D | Missense | 2152 |
15 | 13-32873175-T-C | FRY | c.*3578T>C | - | IntergenicSNV | 2147 |
16 | 19-45411941-T-C | APOE | c.388T>C | p.C130R | Missense | 2116 |
17 | 17-7578406-C-T | TP53 | c.524G>A | p.R175H | Missense | 2000 |
18 | 19-45412079-C-T | APOE | c.526C>T | p.R176C | Missense | 1942 |
19 | 17-7577120-C-T | TP53 | c.818G>A | p.R273H | Missense | 1930 |
20 | 7-117199644-ATCT-A | CFTR | c.1521_1523delCTT | p.F508del | InFrameDeletion | 1828 |
21 | 3-178936082-G-A | PIK3CA | c.1624G>A | p.E542K | Missense | 1495 |
22 | 13-32873110-C-T | FRY | c.*3513C>T | - | IntergenicSNV | 1462 |
23 | 1-11856378-G-A | MTHFR | c.665C>T | p.A222V | Missense | 1461 |
24 | 6-26093141-G-A | HFE | c.845G>A | p.C282Y | Missense | 1357 |
25 | 7-140453136-AC-TT | BRAF | c.1798_1799delinsAA | p.V600K | Missense | 1335 |
26 | 7-55259524-T-A | EGFR | c.2582T>A | p.L861Q | Missense | 1293 |
27 | 4-90749300-C-T | SNCA | c.157G>A | p.A53T | Missense | 1251 |
28 | 7-117227860-G-A | CFTR | c.1652G>A | p.G551D | Missense | 1251 |
29 | 22-44324727-C-G | PNPLA3 | c.444C>G | p.I148M | Missense | 1240 |
30 | 16-53820527-T-A | FTO | c.46-23525T>A | - | IntronicSNV | 1223 |
31 | 21-27269939-C-G | APP | c.2010G>C | p.K670N | Missense | 1188 |
32 | 21-27269939-C-A | APP | c.2010G>T | p.K670N | Missense | 1188 |
33 | 12-25398285-C-T | KRAS | c.34G>A | p.G12S | Missense | 1182 |
34 | 12-25398284-C-G | KRAS | c.35G>C | p.G12A | Missense | 1151 |
35 | 17-7577538-C-T | TP53 | c.743G>A | p.R248Q | Missense | 1126 |
36 | 1-115256530-G-T | NRAS | c.181C>A | p.Q61K | Missense | 1093 |
37 | 9-120475302-A-G | TLR4 | c.896A>G | p.D299G | Missense | 1079 |
38 | 17-7577539-G-A | TP53 | c.742C>T | p.R248W | Missense | 1034 |
39 | 1-115256529-T-C | NRAS | c.182A>G | p.Q61R | Missense | 995 |
40 | 12-25398285-C-G | KRAS | c.34G>C | p.G12R | Missense | 981 |
41 | 6-26091179-C-G | HFE | c.187C>G | p.H63D | Missense | 942 |
42 | 4-55599321-A-T | KIT | c.2447A>T | p.D816V | Missense | 917 |
43 | 7-55241707-GGC-TGA | EGFR | c.2155_2157delGGCinsTGA | p.G719* | Nonsense | 916 |
44 | 7-55249092-G-C | EGFR | c.2390G>C | p.C797S | Missense | 898 |
45 | 17-7579472-G-C | TP53 | c.215C>G | p.P72R | Missense | 888 |
46 | 11-67352689-A-G | GSTP1 | c.313A>G | p.I105V | Missense | 879 |
47 | 21-27264096-C-T | APP | c.2149G>A | p.V717I | Missense | 867 |
48 | 7-55249005-G-T | EGFR | c.2303G>T | p.S768I | Missense | 833 |
49 | 7-55249091-T-A | EGFR | c.2389T>A | p.C797S | Missense | 829 |
50 | 4-90756731-C-G | SNCA | c.88G>C | p.A30P | Missense | 828 |