From: Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases
Gene | Number of mutation events (frequency) | Exon_Rank | Missense or stop-gained mutations | Base mutation | Synonymous or intronic mutations | Base mutation |
---|---|---|---|---|---|---|
BRAF | 23 | 15 | p.V600E, LOC100507389-BRAF, STARD9-BRAF, CUX1-BRAF | c.1799 T > A, chrom3:142634278_7:140492322, chrom15:42936216_7:140492968, chrom7:101809365_7:140492220 | \ | \ |
NF1 | 6 | 43, 46, 32 | p.G1403S, p.Y2285* | c.4207G > A, c.6855C > A | p.S2152= | c.6456 T > C |
NOTCH1 | 5 | 29, 32, 14 | p.D1808N, p.H2018Q, p.D740N | c.5422G > A, c.6054C > A, c.2218G > A | \ | \ |
SPEN | 5 | 11, 2 | p.R807H, p.R128C | c.2420G > A, c.382C > T | p.K926= | c.2778A > G |
AKT2 | 4 | NA | \ | cn_amp | \ | |
APC | 4 | 16 | p.L662I | c.1984C > A | p.P1634= | c.4902G > A |
ATRX | 3 | 9 | \ | \ | p.T899=, p.S651= | c.2697G > A, c.1953 T > G |
ETV4 | 3 | NA | \ | \ | cn_amp | \ |
FANCD2 | 2 | 25, 30 | p.N791S, p.T981I | c.2372A > G, c.2942C > T | \ | \ |
FAT3 | 2 | 20, 23 | p.R3849Q | c.11546G > A | p.Y4222= | c.12666C > T |
KDR | 2 | 10, 15 | p.W460 L, p.I753V | c.1379G > T, c.2257A > G | \ | \ |
NOTCH3 | 2 | 4, 24 | p.A198V | c.593C > T | p.P1331= | c.3993G > A |
TET2 | 2 | 11 | p.E1973K, p.N1765 K | c.5917G > A, c.5295C > G | \ | \ |
TSC2 | 2 | 30, 35, 5 | p.V1144 M, p.E1513K | c.3430G > A, c.4537G > A | \ | \ |
ABL1 | 1 | 4 | \ | \ | p.L217= | c.649 T > C |
ALOX12B | 1 | 12 | p.A525T | c.1573G > A | \ | \ |
AMER1 | 1 | 2 | p.G149_A156del | c.446_469delGAGCCACAGAGAAAGCTGTGGCTG | \ | \ |
ARID1A | 1 | 1 | \ | \ | p.A281= | c.843G > A |
ASXL1 | 1 | 12 | p.Q778* | c.2332C > T | \ | \ |
AURKB | 1 | 6 | p.G161R | c.481G > A | \ | \ |
AXL | 1 | 2 | p.R71Q | c.212G > A | \ | \ |
BCORL1 | 1 | 3 | p.P312S | c.934C > T | \ | \ |
CCND1 | 1 | NA | \ | \ | cn_amp | \ |
CD79A | 1 | 2 | \ | \ | p.T65= | c.195C > T |
CDH1 | 1 | 9 | p.D433N | c.1297G > A | \ | \ |
CDK12 | 1 | 13 | \ | \ | p.S1191= | c.3573A > G |
DIS3 | 1 | 11 | p.V509 L | c.1525G > C | \ | \ |
DOT1L | 1 | 24 | p.G1087S | c.3259G > A | \ | \ |
EP300 | 1 | 2 | \ | \ | p.Y207= | c.621C > T |
EPHA3 | 1 | 7 | p.A515T | c.1543G > A | \ | \ |
EPHA5 | 1 | 5 | \ | \ | p.Y437= | c.1311 T > C |
ERBB2 | 1 | 3 | \ | \ | p.P122= | c.366G > A |
ERBB4 | 1 | 27 | p.A1130S | c.3388G > T | \ | \ |
EZH2 | 1 | 2 | p.R18C | c.52C > T | \ | \ |
FGFR1 | 1 | NA | \ | \ | cn_amp | NA |
FGFR4 | 1 | 18 | p.D785H | c.2353G > C | \ | \ |
GRIN2A | 1 | 3 | p.V122I | c.364G > A | \ | \ |
HRAS | 1 | 4 | \ | \ | p.D108= | c.324C > T |
IKBKE | 1 | 6 | p.R134C | c.400C > T | \ | \ |
IL7R | 1 | 5 | p.A199G | c.596C > G | \ | \ |
INHBA | 1 | 2 | p.K45R | c.134A > G | \ | \ |
KAT6A | 1 | 15 | \ | \ | p.E993del | c.2977_2979delGAG |
KDM5A | 1 | 23 | \ | \ | p.G1200 fs | c.3597dupA |
KDM6A | 1 | 5 | p.Y143C | c.428A > G | \ | \ |
KMT2D | 1 | 10 | \ | \ | p.P556= | c.1668G > T |
MAP2K1 | 1 | 10 | p.Q354H | c.1062A > C | \ | \ |
MET | 1 | NA | \ | \ | cn_amp | NA |
MTOR | 1 | 28 | \ | \ | p.A1388= | c.4164C > T |
NCOR1 | 1 | 4 | \ | \ | p.L133= | c.399G > A |
NF2 | 1 | 5 | \ | \ | p.R160= | c.478C > A |
NPM1 | 1 | 7 | p.V192 M | c.574G > A | \ | \ |
NSD1 | 1 | 5 | \ | \ | p.K513= | c.1539G > A |
NTRK1 | 1 | 8 | p.N323S | c.968A > G | \ | \ |
PAK3 | 1 | 1 | p.S31G | c.91A > G | \ | \ |
PARP2 | 1 | 8 | p.E231K | c.691G > A | \ | \ |
PARP4 | 1 | 31 | \ | \ | p.R1332= | c.3996C > T |
PAX5 | 1 | 6 | \ | \ | p.L234= | c.700C > T |
PIK3C2G | 1 | 29 | p.R1316G | c.3946A > G | \ | \ |
PIK3CG | 1 | 8 | \ | \ | p.I879= | c.2637C > T |
PMS2 | 1 | 9 | p.R304T | c.911G > C | \ | \ |
PRDM1 | 1 | 5 | p.H409Q | c.1227C > A | \ | \ |
RAD52 | 1 | 9 | p.A248T | c.742G > A | \ | \ |
RET | 1 | 7 | \ | \ | p.G453= | c.1359G > C |
RPTOR | 1 | 14 | \ | \ | p.N513= | c.1539C > T |
SMARCA4 | 1 | 35 | p.R1633Q | c.4898G > A | \ | \ |
SOX10 | 1 | 4 | p.T240P | c.718A > C | \ | \ |
TSC1 | 1 | 13 | p.M425 V | c.1273A > G | \ | \ |
TSHR | 1 | 5 | p.G132R | c.394G > C | \ | \ |