| Patient | Gene | Refseq ID | Mosaic variants | Category | AAF |
---|---|---|---|---|---|---|
AD | 1F | ARID1A | NM_006015 | c.2914delG (p.D972fs) | Path | 17.5% |
2M | ARID2 | NM_152641 | c.4741C>T (p.P1581S) | VOUS | 20.0% | |
3M | ASXL1 | NM_015338 | c.2083_2084delCA (p.Q695fs) | Path | 28.7% | |
4M | COL12A1 | NM_004370 | c.533G>T (p.R178I) | VOUS | 16.5% | |
5F | CREBBP | NM_004380 | c.5991delC (p.V1998fs) | Path | 25.0% | |
6M | CREBBP | NM_004380 | c.1447C>T (p.R483*) | Path | 23.3% | |
7M | DNM1 | NM_004408 | c.415G>C (p.G139R) | LP | 24.7% | |
8M | DNMT3A | NM_175629 | c.2260C>T(p.L754F) | LP | 18.0% | |
9M | DYNC1H1 | NM_001376 | c.5497G>A (p.A1833T) | VOUS | 24.2% | |
10M | EEF1A2 | NM_001958 | c.796C>T(p.R266W) | Path | 32.0% | |
11F | ELN | NM_001081755 | c.1711G>A (p.A571T) | VOUS | 22.8% | |
12U | ENG | NM_000118 | c.67+2T>G | LP | 11.8% | |
13F | EP300 | NM_001429 | c.2660C>T(p.T887I) | LP | 12.0% | |
14F | GABRB2 | NM_000813 | c.664G>T (p.V222F) | LP | 20.8% | |
15F | GJA1 | NM_000165 | c.433G>A(p.V145M) | VOUS | 16.0% | |
16F | HNRNPK | NM_002140 | c.1003G>A (p.G335S) | VOUS | 17.8% | |
17M | IDH2 | NM_002168 | c.419G>A (p.R140Q) | Path | 19.6% | |
18M | KANSL1 | NM_001193466 | c.868C>T (p.R290*) | VOUS | 11.6% | |
19M | KCNT1 | NM_020822 | c.1421G>A (p.R474H) | Path | 29.0% | |
20F | KIF1B | NM_015074 | c.2710G>A (p.E904K) | VOUS | 17.3% | |
21F | KMT2A | NM_001197104 | c.3581G>A (p.C1194Y) | LP | 36.0% | |
22M | KMT2D | NM_003482 | c.10938_10939delinsT (p.P3647fs) | Path | 27.8% | |
23M | KMT2D | NM_003482 | c.8506C>T (p.R2836C) | VOUS | 10.4% | |
24F | NALCN | NM_052867 | c.1783G>T (p.V595F) | LP | 25.8% | |
25M | NF1 | NM_001042492 | c.5907_5908delAA (p.R1970fs) | Path | 10.4% | |
26F | NF2 | NM_000268 | c.810+1G>T(N/A) | Path | 15.0% | |
27F | NLRC4 | NM_021209 | c.512C>T (p.S171F) | LP | 25.3% | |
28M | NOTCH2 | NM_024408 | c.118A>G (p.M40V) | VOUS | 29.0% | |
29F | PIK3CA | NM_006218 | c.1359_1361delAGA(p.E453del) | Path | 15.0% | |
30M | POLG | NM_002693 | c.2557C>T (p.R853W) | VOUS | 10.4% | |
31F | PTPN11 | NM_002834 | c.1403C>T(p.T468M) | LP | 17.0% | |
32M | SNTG1 | NM_018967 | c.814A>T (p.K272*) | VOUS | 12.8% | |
33F | SYNGAP1 | NM_006772 | c.1630C>T(p.R544*) | Path | 11.0% | |
34M | TRAF7 | NM_032271 | c.1111C>G (p.R371G) | VOUS | 13.3% | |
35M | TWIST2 | NM_057179 | c.223G>C(p.E75Q) | Path | 24.0% | |
36F | ROBO1 | NM_002941 | c.3055T>G(p.Y1019D) | LP | 20.0% | |
AD/AR | 37F | ACTA1 | NM_001100 | c.1003C>T (p.P335S) | VOUS | 14.4% |
38F | COL6A3 | NM_004369 | c.3932A>T(p.N1311I) | VOUS | 25.0% | |
39F | SLC25A4 | NM_001151 | c.706C>T (p.R236C) | VOUS | 15.2% | |
AD/somatic | 40U | BRAF | NM_004333 | c.1786G>C (p.G596R) | VOUS | 15.6% |
41M | KRAS | NM_004985 | c.355G>A (p.D119N) | VOUS | 20.8% | |
42M | WT1 | NM_024426 | c.865_867delinsAA (p.Y289fs) | Path | 34.6% | |
43F | HRAS | NM_005343 | c.38G>A (p.G13D) | Path | 19.0% | |
 | 44M | MTOR | NM_004958 | c.7255G>A (p.E2419K) | LP | 22.3% |
45M | MTOR | NM_004958 | c.7247C>A (p.A2416D) | LP | 16.0% | |
46M | MTOR | NM_004958 | c.5930C>T (p.T1977I) | Path | 21.5% | |
47M | PIK3CA | NM_006218 | c.1030G>A (p.V344M) | LP | 24.4% | |
48F | PIK3CA | NM_006218 | c.1093G>A (p.E365K) | Path | 12.7% | |
AR | 49M | ADGRV1 | NM_032119 | c.16368G>T (p.K5456N) | VOUS | 23.7% |
50M | ALG6 | NM_013339 | c.52C>T (p.R18*) | Path | 17.9% | |
51F | COX15 | NM_004376 | c.1129A>T (p.K377*) | Path | 12.1% | |
52F | CWF19L1 | NM_018294 | c.70delA (p.R24fs) | Path | 14.0% | |
53M | GNPTG | NM_032520 | c.376G>A (p.G126S) | VOUS | 18.7% | |
54F | ZMPSTE24 | NM_005857 | c.1077dupT (p.L362fs) | VOUS | 79.7% | |
Somatic | 55M | IDH1 | NM_005896 | c.395G>A (p.R132H) | LP | 14.0% |
56M | TET2 | NM_001127208 | c.3961A>T (p.K1321*) | VOUS | 30.2% | |
XL | 57F | ALG13 | NM_001099922 | c.320A>G (p.N107S) | Path | 10.9% |
58F | CDKL5 | NM_003159 | c.593G>A (p.G198D) | VOUS | 11.6% | |
59F | DDX3X | NM_001193416 | c.573_575del (p.I191del) | LP | 21.1% | |
60F | DDX3X | NM_001193416 | c.1805G>A (p.R602Q) | VOUS | 13.9% | |
61F | HCFC1 | NM_005334 | c.1004A>G (p.Y335C) | LP | 16.4% | |
62F | NAA10 | NM_003491 | c.247C>T (p.R83C) | Path | 16.2% | |
63F | OPHN1 | NM_002547 | c.1817C>T (p.S606F) | VOUS | 18.2% | |
64F | SNX14 | NM_153816 | c.1050T>A(p.F350L) | VOUS | 18.0% | |
65F | ZC4H2 | NM_018684 | c.199C>T (p.R67*) | LP | 24.2% | |
66M | NEXMIF | NM_001008537 | c.862G>T(p.E288*) | Path | 20.0% | |
67M | CASK | NM_003688 | c.913_914dupAA (p.G306fs) | Path | 47.2% | |
68M | CLIC2 | NM_001289 | c.255A>T(p.K85N) | VOUS | 11.0% | |
69M | DMD | NM_004006 | c.583C>T (p.R195*) | Path | 14.3% | |
70M | GRIA3 | NM_000828 | c.1936T>C (p.S646P) | VOUS | 61.9% | |
71M | GRIA3 | NM_000828 | c.1981A>G (p.M661V) | LP | 37.9% | |
72M | HUWE1 | NM_031407 | c.8987G>A(p.R2996Q) | VOUS | 13.0% | |
73M | KDM5C | NM_004187 | c.469T>A (p.Y157N) | LP | 44.6% | |
74M | KDM6A | NM_021140 | c.2172_2173delAT(p.L725fs) | Path | 11.0% | |
75M | L1CAM | NM_000425 | c.2357T>A(p.I786N) | LP | 85.0% | |
76M | OTC | NM_000531 | c.1048C>T (p.Q350*) | Path | 10.8% | |
77M | PCDH19 | NM_001184880 | c.919G>A (p.E307K) | VOUS | 75.9% | |
78M | PDHA1 | NM_000284 | c.265G>A (p.G89S) | VOUS | 17.1% | |
79M | TTN | NM_133378 | c.87881T>C(p.V29294A) | VOUS | 10.0% | |
80M | UBA1 | NM_003334 | c.1631G>A (p.R544Q) | VOUS | 30.1% |