Rank | Symbol | Variant Number |
---|---|---|
1 | TTN | 41588 |
2 | BRCA2 | 34738 |
3 | TG | 34468 |
4 | MUC16 | 22766 |
5 | BRCA1 | 22113 |
6 | MSH2 | 17914 |
7 | DMD | 15904 |
8 | BLM | 14804 |
9 | ATM | 14293 |
10 | FLNA | 14285 |
11 | KMT2D | 13568 |
12 | SYNE1 | 13553 |
13 | APC | 13281 |
14 | USH2A | 13191 |
15 | LRP1B | 12497 |
16 | GAA | 12164 |
17 | KMT2C | 11499 |
18 | GC | 11390 |
19 | NF1 | 11111 |
20 | ADGRV1 | 11093 |
21 | RYR2 | 11044 |
22 | ATP7A | 10958 |
23 | ITGA2B | 10953 |
24 | ALK | 10686 |
25 | TP53 | 9965 |
26 | RYR1 | 9686 |
27 | BTK | 9582 |
28 | EGFR | 9568 |
29 | NEB | 9529 |
30 | MUC4 | 9510 |
31 | KIT | 9466 |
32 | GCK | 9284 |
33 | RET | 9057 |
34 | TET2 | 8998 |
35 | KCNIP4 | 8889 |
36 | ARID1A | 8816 |
37 | APOB | 8769 |
38 | PCLO | 8752 |
39 | NOTCH1 | 8730 |
40 | PTPN11 | 8614 |
41 | FLG | 8592 |
42 | CSMD3 | 8450 |
43 | BMPR2 | 8417 |
44 | EGR1 | 8350 |
45 | FAT1 | 8301 |
46 | DNAH5 | 8236 |
47 | AHNAK2 | 8144 |
48 | LRP2 | 7880 |
49 | MUC17 | 7785 |
50 | HMCN1 | 7779 |
Rank | Variant ID | Symbol | cDot | pDot | Consequence | Reference Count |
---|---|---|---|---|---|---|
1 | 7-140753336-A-T | BRAF | c.1799T>A | p.V600E | Missense | 15115 |
2 | 7-55181378-C-T | EGFR | c.2369C>T | p.T790M | Missense | 6775 |
3 | 7-55191822-T-G | EGFR | c.2573T>G | p.L858R | Missense | 6663 |
4 | 12-25245350-C-T | KRAS | c.35G>A | p.G12D | Missense | 5760 |
5 | 9-5073770-G-T | JAK2 | c.1849G>T | p.V617F | Missense | 3720 |
6 | 12-25245350-C-A | KRAS | c.35G>T | p.G12V | Missense | 3645 |
7 | 12-25245351-C-A | KRAS | c.34G>T | p.G12C | Missense | 2965 |
8 | 3-179234297-A-G | PIK3CA | c.3140A>G | p.H1047R | Missense | 2904 |
9 | 3-179218303-G-A | PIK3CA | c.1633G>A | p.E545K | Missense | 2624 |
10 | 2-208248388-C-T | IDH1 | c.395G>A | p.R132H | Missense | 2523 |
11 | 17-7675088-C-T | TP53 | c.524G>A | p.R175H | Missense | 2458 |
12 | 12-25245347-C-T | KRAS | c.38G>A | p.G13D | Missense | 2424 |
13 | 17-7673802-C-T | TP53 | c.818G>A | p.R273H | Missense | 2287 |
14 | 22-19963748-G-A | COMT | c.472G>A | p.V158M | Missense | 2161 |
15 | 19-44908684-T-C | APOE | c.388T>C | p.C130R | Missense | 2149 |
16 | 12-40340400-G-A | LRRK2 | c.6055G>A | p.G2019S | Missense | 2147 |
17 | 11-27658369-C-T | BDNF | c.196G>A | p.V66M | Missense | 2135 |
18 | 19-44908822-C-T | APOE | c.526C>T | p.R176C | Missense | 1972 |
19 | 3-179218294-G-A | PIK3CA | c.1624G>A | p.E542K | Missense | 1849 |
20 | 7-117559590-ATCT-A | CFTR | c.1521_1523delCTT | p.F508del | InFrameDeletion | 1646 |
21 | 17-7674220-C-T | TP53 | c.743G>A | p.R248Q | Missense | 1564 |
22 | 1-11796321-G-A | MTHFR | c.665C>T | p.A222V | Missense | 1536 |
23 | 7-55191831-T-A | EGFR | c.2582T>A | p.L861Q | Missense | 1473 |
24 | 17-7674221-G-A | TP53 | c.742C>T | p.R248W | Missense | 1449 |
25 | 12-25245350-C-G | KRAS | c.35G>C | p.G12A | Missense | 1421 |
26 | 6-26092913-G-A | HFE | c.845G>A | p.C282Y | Missense | 1414 |
27 | 12-25245351-C-T | KRAS | c.34G>A | p.G12S | Missense | 1414 |
28 | 7-140753336-AC-TT | BRAF | c.1798_1799delGTinsAA | p.V600K | Missense | 1394 |
29 | 1-114713909-G-T | NRAS | c.181C>A | p.Q61K | Missense | 1386 |
30 | 1-114713908-T-C | NRAS | c.182A>G | p.Q61R | Missense | 1253 |
31 | 7-117587806-G-A | CFTR | c.1652G>A | p.G551D | Missense | 1242 |
32 | 4-89828149-C-T | SNCA | c.157G>A | p.A53T | Missense | 1221 |
33 | 12-25245351-C-G | KRAS | c.34G>C | p.G12R | Missense | 1215 |
34 | 22-43928847-C-G | PNPLA3 | c.444C>G | p.I148M | Missense | 1210 |
35 | 21-25897627-C-G | APP | c.2010G>C | p.K670N | Missense | 1197 |
36 | 21-25897627-C-A | APP | c.2010G>T | p.K670N | Missense | 1197 |
37 | 16-53786615-T-A | FTO | c.46-23525T>A | - | IntronicSNV | 1171 |
38 | 17-7673803-G-A | TP53 | c.817C>T | p.R273C | Missense | 1157 |
39 | 4-54733155-A-T | KIT | c.2447A>T | p.D816V | Missense | 1066 |
40 | 9-117713024-A-G | TLR4 | c.896A>G | p.D299G | Missense | 1058 |
41 | 17-7676154-G-C | TP53 | c.215C>G | p.P72R | Missense | 1017 |
42 | 17-7674872-T-C | TP53 | c.659A>G | p.Y220C | Missense | 1010 |
43 | 6-26090951-C-G | HFE | c.187C>G | p.H63D | Missense | 1007 |
44 | 12-25227341-T-G | KRAS | c.183A>C | p.Q61H | Missense | 1005 |
45 | 7-55181312-G-T | EGFR | c.2303G>T | p.S768I | Missense | 963 |
46 | 7-55174014-GGC-TGA | EGFR | c.2155_2157delGGCinsTGA | p.G719* | Nonsense | 953 |
47 | 11-67585218-A-G | GSTP1 | c.313A>G | p.I105V | Missense | 947 |
48 | 17-7673776-G-A | TP53 | c.844C>T | p.R282W | Missense | 934 |
49 | 7-55181399-G-C | EGFR | c.2390G>C | p.C797S | Missense | 927 |
50 | 2-208248389-G-A | IDH1 | c.394C>T | p.R132C | Missense | 921 |