Table 2 Mutational analysis of circulating tumor DNA and formalin-fixed paraffin-embedded tissue samples.
UPN | Diagnosis | Gene | c.DNA | Protein | FPPE VAF | cfDNA VAF | Consenquence |
|---|---|---|---|---|---|---|---|
4 | FL | BCL2 | c.140G > A | p.(Gly47Asp) | 28 | 2 | Missense |
BCL2 | c.175C > A | p.(Pro59Thr) | 28.4 | 2.2 | Missense | ||
BCL2 | c.151T > G | p.(Ser51Ala) | 28.8 | 2.6 | Missense | ||
EZH2 | c.1922A > T | p.(Tyr641Phe) | 30.5 | 4 | Missense | ||
STAT6 | c.1256A > G | p.(Asp419Gly) | 5.3 | – | Missense | ||
CD58 | c.254C > G | p.(Thr85Ser) | 47.9 | 49.4 | Missense | ||
MEF2B | c.170A > G | p.(Tyr57Cys) | 16.8 | 4 | Missense | ||
KMT2D | c.3931A > T | p.(Arg1311*) | 42.2 | 7.6 | Nonsense | ||
KMT2D | c.13893 + 2T > A | p.(?) | 22.4 | 4.5 | Splice_donor_ + 2 | ||
TNFRSF14 | c.139T > A | p.Tyr47Asn | – | 1.1 | Missense | ||
9 | DLBCL | CDKN2A | c.329G > A | p.(Trp110*) | 6.9 | – | Nonsense |
KMT2D | c.14450T > G | p.(Val4817Gly) | 51.3 | 50 | Missense | ||
11 | FL | BCL2 | c.392C > G | p.(Ala131Gly) | 11.7 | 2.5 | Missense |
BCL2 | c.517A > G | p.(Ile173Val) | 9.4 | 1.6 | Missense | ||
CARD11 | c.748T > C | p.(Ser250Pro) | 14.5 | – | Missense | ||
CREBBP | c.4394A > G | p.(Tyr1465Cys) | 32.1 | 4.5 | Missense | ||
CCND3 | c.531_532delCTinsTG | p.(Ser178Ala) | 99.7 | 97.3 | Missense | ||
KMT2D | c.6664C > T | p.(Gln2222*) | 12.2 | – | Nonsense | ||
KMT2D | c.5335A > T | p.(Lys1779*) | 14.5 | – | Nonsense | ||
CXCR4 | c.1025C > G | p.(Ser342*) | – | 1.5 | Nonsense | ||
KMT2A | c.6664C > T | p.(Gln2222*) | – | 1 | Nonsense | ||
13 | DLBCL | TP53 | c.490A > T | p.(Lys164*) | 31.8 | – | Nonsense |
B2M | c.2T > G | p.(Met1?) | 52.4 | – | No-start | ||
PIM1 | c.676G > A | p.(Glu226Lys) | 35.5 | – | Missense | ||
PIM1 | c.370C > T | p.(Pro124Ser) | 62.1 | – | Missense | ||
PIM1 | c.434G > A | p.(Arg145His) | 6.7 | – | Missense | ||
PIM1 | c.202C > T | p.(His68Tyr) | 23.3 | – | Missense | ||
SOCS1 | c.8C > T | p.(Ala3Val) | 30.3 | – | Missense | ||
FOXO1 | c.435del | p.(Ala146Argfs*187) | 17.9 | – | Frameshift | ||
MEF2B | c.78C > G | p.(Phe26Leu) | 52.5 | – | Missense | ||
MYD88 | c.818T > C | p.(Leu273Pro) | 33 | 2.1 | Missense | ||
14 | FL | BCL2 | c.191A > C | p.(Asp64Ala) | 12 | – | Missense |
BCL2 | c.93T > C | p.(Asp31Glu) | 9 | – | Missense | ||
TNFAIP3 | c.2014G > T | p.(Gly672*) | 8.8 | – | Nonsense | ||
TNFRSF14 | c.463delA | p.(Thr155Profs*) | 13.3 | – | Frameshift | ||
KMT2D | c.172 + 2T > C | p.(?) | 12.4 | – | Splice_donor_ + 2 | ||
15 | FL | CREBBP | c.4382T > C | p.(Leu1461Pro) | 29.1 | 5.6 | Missense |
KMT2D | c.16489_16491delATC | p.(Ile5479del) | 32.4 | 4 | Inframe | ||
KMT2D | c.9019delG | p.(Glu3007Lysfs*22) | 26.1 | 4.5 | Frameshift | ||
18 | DLBCL | NFKBIE | c.668_671delTGCTinsAGCG | p.(Leu223_Leu224delins*Arg) | 20.6 | 9.8 | Missense |
SOCS1 | c.7G > A | p.(Ala3Thr) | 14 | 6.4 | Missense | ||
SOCS1 | c.374G > C | p.(Ser125Thr) | 19.1 | 7.7 | Missense | ||
SOCS1 | c.407A > C | p.(His136Pro) | 18 | 7.2 | Missense | ||
SOCS1 | c.428G > A | p.(Ser143Asn) | 13.5 | 7.2 | Missense | ||
SOCS1 | c.398delG | p.(Gly133Alafs*72) | 10.6 | 7.2 | Frameshift | ||
SOCS1 | c.55C > T | p.(Pro19Ser) | 14.6 | 8.3 | Missense | ||
SOCS1 | c.412G > C | p.(Asp138His) | 15.9 | 7 | Missense | ||
SOCS1 | c.391C > G | p.(Gln131Glu) | 16.4 | 7.3 | Missense | ||
SOCS1 | c.391C > T | p.(Gln131*) | 16.4 | 6.3 | Nonsense | ||
SOCS1 | c.318C > G | p.(Ser106Arg) | 8.7 | 6.2 | Missense | ||
SOCS1 | c.528G > C | p.(Glu176Asp) | 10.6 | 6.3 | Missense | ||
ARID1A | c.5012G > A | p.(Arg1671Gln) | 18.4 | 8.3 | Missense | ||
MYC | c.482C > T | p.(Ser161Leu) | 10.9 | 5.2 | Missense | ||
MYC | c.218_219delCCinsTA | p.(Thr73Ile) | 11.2 | 3.6 | Missense | ||
MYC | c.1164C > G | p.(Ser388Arg) | 18.7 | 3.5 | Missense | ||
MYC | c.557G > C | p.(Cys186Ser) | 14.5 | – | Missense | ||
MYC | c.895G > C | p.(Ala299Pro) | 18.6 | 3.8 | Missense | ||
MYC | c.910_999dup | p.(Lys304_Asp333dup) | 40.6 | – | Inframe | ||
MYC | c.654C > G | p.(Ser218Arg) | 15.1 | 3.5 | Missense | ||
MYC | c.785C > T | p.(Thr262Ile) | 15.8 | 2.9 | Missense | ||
MYC | c.68_71delinsGCAG | p.(Phe23Cys) | 9.7 | 2.4 | Missense | ||
MYC | c.63C > G | p.(Ser21Arg) | 9.6 | 2.5 | Missense | ||
MYC | c.162G > C | p.(Glu54Asp) | 9 | 3.1 | Missense | ||
MYC | c.144G > A | p.(Asp48Glu) | 7.9 | 3.1 | Missense | ||
MYC | c.358_361delinsTTGT | p.(Asp120Leu) | 11.8 | – | Missense | ||
REL | c.868A > G | p.(Lys290Glu) | – | 5.7 | Missense | ||
MYC | c.361C > T | p.(Asp121Tyr) | – | 2.7 | Missense | ||
19 | FL | CARD11 | c.1202A > T | p.(Asp401Val) | 19.9 | 13.1 | Missense |
SOCS1 | c.4G > T | p.(Val2Leu) | 18.1 | 11.6 | Missense | ||
SOCS1 | c.14A > G | p.(Asn5Ser) | 20 | 46.6 | Missense | ||
SOCS1 | c.134_139dupTCCCGG | p.(Val45_Pro46dup) | 43.5 | 11.3 | Inframe | ||
TNFAIP3 | c.1035C > A | p.(Tyr345*) | 28.9 | 14.8 | Nonsense | ||
TNFRSF14 | c.70G > T | p.(Val24Leu) | 28.1 | 16.6 | Missense | ||
B2M | c.1A > G | p.(Met1?) | – | 6.9 | No-start | ||
B2M | c.346 + 2T > A | p.(?) | – | 1.5 | Splice_donor_ + 2 | ||
B2M | c.35T > C | p.(Leu12Pro) | – | 3.3 | Missense | ||
CREBBP | c.4406T > C | p.(Leu1469Pro) | – | 1.9 | Missense | ||
KMT2D | c.10867C > T | p.(Gln3623*) | – | 2.3 | Nonsense | ||
MYD88 | c.719T > C | p.(Met240Thr) | – | 4.7 | Missense | ||
21 | DLBCL | B2M | c.176T > A | p.(Leu59*) | 80.3 | 16.4 | Nonsense |
ATM | c.8284C > T | p.(Gln2762*) | 54.3 | 16.5 | Nonsense | ||
NFKBIE | c.1147_1153delCAACCAC | p.(Gln383Serfs*46) | 31.3 | 6.5 | Frameshift | ||
NFKBIE | c.759_762delTTAC | p.(Tyr254Serfs*13) | 33.4 | .6 | Frameshift | ||
PRDM1 | c.75delG | p.(Arg25Serfs*13) | 41.8 | 49.5 | Frameshift | ||
SOCS1 | c.358_361delGCCTinsCC | p.(Ala120Profs*?) | 39.7 | 7.6 | Frameshift | ||
SOCS1 | c.434_437delACTG | p.(Asp145Alafs*59) | 39.4 | 5.4 | Frameshift | ||
TNFAIP3 | c.2350C > T | p.(Gln784*) | 64 | 8.7 | Nonsense | ||
TNFAIP3 | C.295 + 2T > C | p.(?) | 67.5 | 6.1 | Splice_donor_ + 2 | ||
CDKN2A | c.394G > A | p.(Ala132Thr) | 32.4 | 1.1 | Missense | ||
CIITA | c.34_46delTACCTGTCAGAGC | p.(Tyr12Profs*15) | 36.4 | 7 | Frameshift | ||
CIITA | c.1652delG | p.(Gly551Alafs*7) | 35.9 | – | Frameshift | ||
CIITA | c.3262G > A | p.(Gly1880Arg) | 5.3 | – | Missense | ||
FOXO1 | c.61C > T | p.(Arg21Cys) | 39.4 | 6.1 | Missense | ||
GNA13 | c.179A > G | p.(Asp60Gly) | 81.6 | 15.2 | Missense | ||
MYC | c.25A > G | p.(Asn9Asp) | 43.3 | – | Missense | ||
CIITA | c.3317 + 2T > C | p.(?) | – | 1.2 | Splice_donor_ + 2 | ||
KMT2A | c.137T > G | p.(Val46Gly) | – | 1.4 | Missense | ||
22 | FL | BCL6 | c.1752C > A | p.(Asn584Lys) | 27.8 | 4.2 | Missense |
CCND3 | c.613G > A | p.(Asp205Asn) | 5.3 | – | Missense | ||
GNA13 | c.243_244del | p.(Glu82Glyfs*19) | 5 | – | Frameshift | ||
MYC | c.154_156del | p.(Lys51Del) | 5.4 | – | Inframe | ||
23 | DLBCL | TP53 | c.839G > A | p.(Arg280Lys) | 28.2 | 8.7 | Missense |
NFKBIE | c.759_762delTTAC | p.(Tyr254Serfs*13) | 12.3 | – | Frameshift | ||
CCND3 | c.626T > C | p.(Ile209Thr) | 23.1 | 9.1 | Missense | ||
CCND3 | c.604A > C | p.(Thr202Pro) | 24.4 | 9.1 | Missense | ||
24 | DLBCL | BCL2 | c.17G > A | p.(Arg6Lys) | 5.9 | – | Missense |
B2M | c.16G > C | p.(Ala6Pro) | 49.4 | 42.2 | Missense | ||
TNFRSF14 | c.49_50delinsCAG | p.(Lys17Glnfs*60) | 8.9 | – | Frameshift | ||
CXCR4 | c.1025C > A | p.(Ser342*) | 5 | – | Nonsense | ||
MAL | c.59C > T | p.(Thr20Ile) | 46.6 | 49.3 | Missense | ||
B2M | c.3G > C | p.(Met1?) | – | 8.5 | No-start | ||
CREBBP | c.4829_4830del | p.(Pro1610Hisfs*11) | – | 2.1 | Frameshift | ||
NRAS | c.38G > A | p.(Gly13Asp) | – | 1 | Missense | ||
PAX5 | c.979T > C | p.(Tyr327His) | – | 2.1 | Missense | ||
PIM1 | c.117G > T | p.(Gln39His) | – | 5.4 | Missense | ||
26 | DLBCL | TP53 | c.725G > T | p.(Cys242Phe) | 76.8 | 91.4 | Missense |
TCF3 | c.1688G > A | p.(Arg563His) | 17.1 | 28.1 | Missense | ||
28 | DLBCL | CHD2 | c.1281G > A | p.(Trp427*) | 18.6 | 30.6 | Nonsense |
MAL | c.98T > G | p.(Phe33Cys) | 6 | – | Missense | ||
MYC | c.1148A > G | p.(Asn383Ser) | 22.9 | – | Missense | ||
MYC | c.490C > T | p.(Pro164Ser) | 20.6 | – | Missense | ||
MYD88 | c.818T > C | p.(Leu273Pro) | 18.4 | 33.8 | Missense | ||
MYD88 | c.797C > T | p.(Pro266Leu) | 19.1 | 33.4 | Missense | ||
PIM1 | c.550C > T | p.(Leu184Phe) | – | 5.7 | Missense | ||
PRDM1 | c.2182G > T | p.(Glu728*) | – | 2.9 | Nonsense | ||
EP300 | c.3754A > G | p.(Arg1252Gly) | – | 1.4 | Missense | ||
31 | DLBCL | BRAF | c.1780G > A | p.(Asp594Asn) | 29.4 | – | Missense |
EZH2 | c.1921T > A | p.(Tyr641Asn) | 34.4 | – | Missense | ||
STAT6 | c.1255G > T | p.(Asp419Tyr) | 52.4 | 1.1 | Missense | ||
PIM1 | c.409G > T | p.(Gly137*) | 34 | – | Nonsense | ||
PIM1 | c.285G > C | p.(Lys95Asn) | 31.8 | – | Missense | ||
SOCS1 | c.220C > G | p.(Leu74Val) | 30.7 | 1.4 | Missense | ||
SOCS1 | c.178T > C | p.(Ser60Pro) | 28.6 | 1.4 | Missense | ||
KMT2D | c.14843C > G | p.(Ser4948*) | 40.3 | 2 | Nonsense | ||
KMT2D | c.7586delG | p.(Gly2529Alafs*14) | 22.7 | – | Frameshift | ||
32 | DLBCL | NOTCH1 | c.7541_7542delCT | p.(Pro2514Argfs*4) | 34.7 | 1.3 | Frameshift |
ARID1A | c.4540_4543delACGGinsCCGT | p.(Thr1514_Gly1515delinsProCys) | 10.1 | – | Missense | ||
MAL | c.98T > C | p.(Phe33Cys) | 6 | – | Missense | ||
KMT2D | c.2886_2887delTGinsCA | p.(Ala963Thr) | 11.5 | – | Missense | ||
MEF2B | c.928T > G | p.(Ser310Ala) | – | 2 | Missense | ||
33 | DLBCL | NFKBIE | c.98C > T | p.(Ser33Phe) | 63 | 52.6 | Missense |
CCND3 | c.544_554dupTCCAGCCCAGC | p.(Lys187Alafs*?) | 63.7 | 1.5 | Frameshift | ||
CXCR4 | c.1012C > T | p.(Arg338*) | 45.1 | – | Nonsense | ||
EP300 | c.6316delA | p.(Met2106Cysfs*28) | 11.1 | – | Frameshift | ||
EP300 | c.6329_6330insT | p.(Gln2110Hisfs*100) | 9.9 | – | Frameshift | ||
MAL | c.98T > G | p.(Phe33Cys) | 8.7 | – | Missense | ||
KMT2D | c.2886_2887delTGinsCA | p.(Ala963Thr) | 13.6 | – | Missense | ||
MYC | c.77_78delACinsGT | p.(Asn26Ser) | 67.4 | 1 | Missense | ||
MYC | c.63C > G | p.(Ser21Arg) | 67.6 | 1.3 | Missense | ||
MYC | c.214C > A | p.(Pro72Thr) | 68.3 | – | Missense | ||
MYC | c.175G > A | p.(Ala59Thr) | 67.7 | – | Missense | ||
35 | DLBCL | NRAS | c.38G > T | p.(Gly13Val) | 6.1 | – | Missense |
EZH2 | c.2060C > T | p.(Ala687Val) | 35.4 | 12.5 | Missense | ||
REL | c.392A > G | p.(Asn131Ser) | 57.9 | 4.6 | Missense | ||
ARID1A | c.2668A > G | p.(Met890Val) | 31.8 | 49.4 | Missense | ||
ARID1A | c.4540_4543delinsCCGT | p.(Thr1514_Gly1515delinsProCys) | 9.7 | – | Missense | ||
EP300 | c.6329_6330insT | p.(Gln2110Hisfs*100) | 22.2 | – | Frameshift | ||
EP300 | c.6323A > T | p.(Gln2108Leu) | 22.7 | – | Missense | ||
EP300 | c.6316del | p.(Met2106Cysfs*28) | 25.2 | – | Frameshift | ||
FOXO1 | c.62G > T | p.(Arg21Leu) | 28.8 | 2.2 | Missense | ||
FOXO1 | c.118T > C | p.(Ser40Pro) | 30.8 | 2.5 | Missense | ||
MAL | c.98T > G | p.(Phe33Cys) | 13.5 | – | Missense | ||
MEF2B | c.32T > C | p.(Ile11Thr) | 27.5 | 4.5 | Missense | ||
KMT2D | c.6221_6224dupACAA | p.(Val2076Glnfs*7) | 23.9 | – | Frameshift | ||
KMT2D | c.12204_12207delACTC | p.(Ser4070Glyfs*25) | 37.6 | 9.6 | Frameshift | ||
KMT2D | c.2876delA | p.(Tyr959Serfs*41) | 10.2 | – | Frameshift | ||
KMT2D | c.2886_2887delTGinsCA | p.(Ala963Thr) | 22.6 | – | Missense | ||
KMT2D | c.4279T > G | p.(Cys1427Gly) | – | 2.6 | Missense | ||
37 | DLBCL | BCL6 | c.1760C > G | p.(Ala587Gly) | 29.2 | – | Missense |
PLCG2 | c.2009T > G | p.(Leu670Arg) | 7.1 | – | Missense | ||
POT1 | c.1315_1317del | p.(Ala439del) | 6.4 | – | Inframe | ||
SOCS1 | c.195_206delGCGCATCACGCG | p.(Arg66_Arg69del) | 34.7 | – | Inframe | ||
ARID1A | c.4540_4543delACGGinsCCGT | p.(Thr1514_Gly1515delinsProCys) | 16.6 | – | Missense | ||
EP300 | c.6329_6330insT | p.(Gln2110Hisfs*100) | 18.2 | – | Frameshift | ||
EP300 | c.6316delA | p.(Met2106Cysfs*28) | 18.7 | – | Frameshift | ||
EP300 | c.6323A > T | p.(Gln2108Leu) | 19.1 | – | Missense | ||
FOXO1 | c.1478G > C | p.(Gly493Ala) | 7.2 | – | Missense | ||
MAL | c.98T > G | p.(Phe33Cys) | 19.3 | – | Missense | ||
KMT2D | c.13753_13757delinsTTGAC | p.(Val4585_Asn4586delinsLeuThr) | 5.4 | – | Missense | ||
KMT2D | c.2886_2887delTGinsCA | p.(Ala963Thr) | 37.6 | – | Missense | ||
38 | DLBCL | B2M | c.2T > A | p.(Met1?) | 31.9 | – | No-start |
NFKBIE | c.1108 + 2T > A | p.(?) | 25.1 | – | Splice_donor_ + 2 | ||
NFKBIE | c.759_762delTTAC | p.(Tyr254Serfs*13) | 24.6 | – | Frameshift | ||
PRDM1 | c.1142A > G | p.(Tyr381Cys) | 49.5 | 48.3 | Missense | ||
TNFRSF14 | c.632T > A | p.(Val211Asp) | 32 | – | Missense | ||
CD58 | c.70 + 2T > G | p.(?) | 34.2 | – | Splice_donor_ + 2 | ||
40 | DLBCL | – | – | – | – | – | – |
43 | DLBCL | TNFAIP3 | c.1939A > C | p.(Thr647Pro) | 50.2 | 51.8 | Missense |
SOCS1 | c.529C > G | p.(Leu177Val) | – | 2.1 | Missense | ||
SOCS1 | c.174C > G | p.(Phe58Leu) | – | 2.3 | Missense | ||
SOCS1 | c.598C > G | p.(Leu200Val) | – | 1.8 | Missense | ||
SOCS1 | c.614G > C | p.(Ser205Thr) | – | 1.9 | Missense | ||
SOCS1 | c.46_49delinsTCAA | p.(Ala16_Ala17delinsSerThr) | – | 2.4 | Missense | ||
SOCS1 | c.22G > C | p.(Ala8Pro) | – | 2.2 | Missense | ||
SOCS1 | c.4G > C | p.(Val2Leu) | – | 2.2 | Missense | ||
MEF2B | c.928T > G | p.(Ser310Ala) | – | 1.7 | Missense | ||
44 | DLBCL | TP53 | c.743G > A | p.(Arg248Gln) | 12.6 | 28.7 | Missense |
TP53 | c.919 + 1G > A | p.(?) | 12.6 | 25.8 | Splice_donor_ + 1 | ||
PRDM1 | c.626_627del | p.(His209Leufs*25) | 19.1 | 46 | Frameshift | ||
ARID1A | c.60_62del | p.(Pro21del) | 9.4 | – | Inframe | ||
MYD88 | c.719T > C | p.(Met240Thr) | 35 | 70.9 | Missense | ||
45 | DLBCL | TP53 | c.404G > T | p.(Cys135Phe) | 7.2 | 1 | Missense |
KRAS | c.38G > A | p.(Gly13Asp) | 13.5 | 14.7 | Missense | ||
CARD11 | c.383C > T | p.(Thr128Met) | 18.2 | 17.5 | Missense | ||
PIM1 | c.447G > T | p.(Trp149Cys) | 15.9 | 14.7 | Missense | ||
PIM1 | c.451G > C | p.(Val151Leu) | 16.4 | 15.3 | Missense | ||
PIM1 | c.242C > T | p.(Pro81Leu) | 14.6 | 15.3 | Missense | ||
SOCS1 | c.430C > T | p.(Phe144Leu) | 14.4 | 13.9 | Missense | ||
SOCS1 | c.534C > G | p.(Cys178Trp) | 15.3 | 12.4 | Missense | ||
CCND3 | c.541_544dup | p.(Ser182*) | 12.1 | 18.1 | Nonsense | ||
EP300 | c.865A > G | p.(Met289Val) | 35.9 | 48.9 | Missense | ||
ID3 | c.203A > G | p.(Glu68Gly) | 16.3 | 11.3 | Missense | ||
ID3 | c.243G > C | p.(Gln81His) | 15.5 | 10.3 | Missense | ||
ID3 | c.305C > T | p.(Ala102Val) | 17.2 | 13.7 | Missense | ||
TP53 | c.800G > T | p.(Arg267Leu) | – | 2.3 | Missense | ||
MEF2B | c.928T > G | p.(Ser310Ala) | – | 1.6 | Missense | ||
46 | DLBCL | TP53 | c.919 + 1G > T | p.(?) | 22.7 | – | Splice_donor_ + 1 |
TP53 | c.455_456delinsT | p.(Pro152Leufs*18) | 11 | – | Frameshift | ||
TP53 | c.743G > A | p.(Arg248Gln) | 8.3 | – | Missense | ||
PRDM1 | c.695G > A | p.(Ser232Asn) | 20.8 | – | Missense | ||
SOCS1 | c.248_280del | p.(Pro83_Leu93del) | 5.7 | 21.8 | Inframe | ||
SOCS1 | c.120_122delinsACG | p.(Pro41Arg) | 8.4 | 21.4 | Missense | ||
SOCS1 | c.299C > T | p.(Thr100Ile) | 7 | 20.7 | Missense | ||
SOCS1 | c.140C > T | p.(Ala47Val) | 9.3 | 20.6 | Missense | ||
SOCS1 | c.347G > A | p.(Ser116Asn) | 5.6 | 18.5 | Missense | ||
SOCS1 | c.233G > A | p.(Gly78Glu) | 7.9 | 25.2 | Missense | ||
CD58 | c.66C > A | p.(Cys22*) | 8.4 | 20.1 | Nonsense | ||
CIITA | c.3344G > A | p.(Ser1115Asn) | 15.2 | – | Missense | ||
EP300 | c.631G > A | p.(Gly211Ser) | 6.4 | 49.2 | Missense | ||
TP53 | c.845G > A | p.(Arg282Gln) | – | 24 | Missense | ||
SOCS1 | c.522_523delinsAT | p.(Gln175*) | – | 16.3 | Nonsense | ||
SOCS1 | c.435_*98del | p.(Asp145_*212del) | – | 1.9 | Frameshift | ||
SOCS1 | c.385_388delinsTATA | p.(His129Phe130insTyrIle) | – | 8.3 | Missense | ||
SOCS1 | c.466_469delinsACGC | p.(Ala156_Ala157delinsThrPro) | – | 14.6 | Missense | ||
SOCS1 | c.37G > C | p.(Val13Leu) | – | 12.7 | Missense | ||
SOCS1 | c.363_364delinsAC | p.(Gly122Arg) | – | 16.2 | Missense | ||
SOCS1 | c.528_531delinsCCTA | p.(Gly176Asp) | – | 15.7 | Missense | ||
SOCS1 | c.454G > A | p.(Glu152Lys) | – | 13 | Missense | ||
SOCS1 | c.574G > A | p.(Ala192Thr) | – | 11.4 | Missense | ||
SOCS1 | c.374G > A | p.(Ser125Asn) | – | 11.5 | Missense | ||
SOCS1 | c.484C > A | p.(Ser162Met) | – | 15.5 | Missense | ||
SOCS1 | c.46_49delinsACAC | p.(Ala16_Ala17delinsThrPro) | – | 13.4 | Missense | ||
SOCS1 | c.429C > G | p.(Ser143Arg) | – | 9 | Missense | ||
SOCS1 | c.614_617delinsATTA | p.(Ser205_206delinsAsnTyr) | – | 6.5 | Missense | ||
SOCS1 | c.541C > T | p.(Arg181Cys) | – | 1.7 | Missense | ||
SOCS1 | c.622C > T | p.(Pro208Ser) | – | 5.8 | Missense | ||
47 | DLBCL | PIM1 | c.72G > C | p.(Lys24Asn) | 11.1 | – | Missense |
PIM1 | c.61C > T | p.(His21Tyr) | 30.1 | – | Missense | ||
PIM1 | c.4C > G | p.(Leu2Val) | 30.1 | – | Missense | ||
CCND3 | c.568dupC | p.(Arg190Profs*) | 30.5 | – | Frameshift | ||
FOXO1 | c.290C > G | p.(Ala97Gly) | 6.2 | – | Missense | ||
KMT2D | c.14782C > A | p.(Pro4928Thr) | 49.1 | 50.9 | Missense | ||
MYD88 | c.818T > C | p.(Leu273Pro) | 32.8 | – | Missense |
