Observed somatic mutations in MYD88WT WM
Gene . | Consequence . | Chr . | Position . | Variant . | Protein . | COSMIC . | CADD . |
---|---|---|---|---|---|---|---|
BCL10 | Nonsense | 1 | 85733609 | T/A | p.135R>* | COSM220638 | 38 |
BCL10 | Frameshift | 1 | 85733357-8 | −/AGAGTTTGCACAAG | p.-/218-219LVQTX | NA | |
CXCR4 | Deletion | 2 | 136872441-82 | TCTGTTTCCACTGAGTC TGAGTCTTCAAGTTTT CACTCCAGCTaa/taa | p.SVSTESESSSFH SS*339-353* | NA | |
CXCR4 | Frameshift | 2 | 136872566-7 | −/T | p.T315NX | NA | |
CXCR4 | Missense | 2 | 136873098 | G/T | p.R134S | 26.9 | |
NFKBIZ | Missense | 3 | 101574709 | A/C | p.K45T | 26.3 | |
TBL1XR1 | Missense | 3 | 176743302 | A/G | p.510L>S | 26.1 | |
TBL1XR1 | Missense | 3 | 176744171 | G/A | p.S503L | COSM5000343 | 34 |
TBL1XR1 | Splice acceptor | 3 | 176750925 | C/G | NA | 25.8 | |
TBL1XR1 | Deletion | 3 | 176756175-7 | AAG/− | p.SC324-325C | COSM3205534 | NA |
TBL1XR1 | Nonsense | 3 | 176767829 | G/A | p.Q220* | 39 | |
TBL1XR1 | Missense | 3 | 176768267 | C/G | p.G187GR | 33 | |
TBL1XR1 | Frameshift | 3 | 176769342 | T/− | p.N126NX | COSM1420706 | 34 |
PTPN13 | Missense | 4 | 87556423 | T/A | p.L5Q | 33 | |
PTPN13 | Missense | 4 | 87656789 | G/T | p.A732S | COSM5019859 | 27.6 |
PTPN13 | Missense | 4 | 87683919 | A/C | p.N1198T | 3.649 | |
PTPN13 | Missense | 4 | 87696460 | C/A | p.P1882Q | COSM481650 | 25.4 |
NFKB1 | Missense | 4 | 103459060 | G/A | p.G69R | 31 | |
KMT2C | Nonsense | 7 | 151891205 | C/A | p.G1517* | COSM3304224 | 41 |
NOTCH1 | Nonsense | 9 | 139390945 | G/A | p.Q2416* | COSM4775108 | 41 |
NFKB2 | Deletion | 10 | 104160996-1855 | NA | NA | NA | |
NFKB2 | Deletion | 10 | 104160849-1688 | NA | NA | NA | |
ATM | Nonsense | 11 | 108175504 | C/T | p.Q1867* | 37 | |
ATM | Missense | 11 | 108204685 | T/C | p.M2667T | 26.3 | |
KMT2D | Frameshift | 12 | 49433373-4 | −/G CCG CCCCCCT | p.-2691- | NA | |
2692AAPX | |||||||
KMT2D | Missense | 12 | 49445543 | T/G | p.E641D | 5.499 | |
KMT2D | Missense | 12 | 49446710 | G/T | p.P367Q | 11.92 | |
KMT2D | Frameshift | 12 | 49448408 | G/− | p.G101X' | NA | |
TP53 | Missense | 17 | 7577108 | C/A | p.C277F | COSM562338 | 34 |
TP53 | Missense | 17 | 7577114 | C/A | p.C275F | COSM99932 | 34 |
MALT1 | Nonsense | 18 | 56414859 | C/T | p.Q743* | 36 | |
MALT1 | Nonsense | 18 | 56414882 | C/A | p.Y750* | 36 | |
NFKBIB | Frameshift | 19 | 39398226-7 | CT/− | p.P299X | COSM5081722 | NA |
UFD1L | Missense | 22 | 19443248 | C/A | p.G145V | 23.6 | |
KDM6A | Missense | X | 44911044 | T/A | p.L249I | 25.4 | |
KDM6A | Frameshift | X | 44942757 | G/− | p.V1113X | COSM5031082 | NA |
KDM6A | Frameshift | X | 44922936-7 | −/GGAAGTGGAAGT | p-/.599- | NA | |
AAT GGAAAC GTGCC | 600GSGSNGNVX |
Gene . | Consequence . | Chr . | Position . | Variant . | Protein . | COSMIC . | CADD . |
---|---|---|---|---|---|---|---|
BCL10 | Nonsense | 1 | 85733609 | T/A | p.135R>* | COSM220638 | 38 |
BCL10 | Frameshift | 1 | 85733357-8 | −/AGAGTTTGCACAAG | p.-/218-219LVQTX | NA | |
CXCR4 | Deletion | 2 | 136872441-82 | TCTGTTTCCACTGAGTC TGAGTCTTCAAGTTTT CACTCCAGCTaa/taa | p.SVSTESESSSFH SS*339-353* | NA | |
CXCR4 | Frameshift | 2 | 136872566-7 | −/T | p.T315NX | NA | |
CXCR4 | Missense | 2 | 136873098 | G/T | p.R134S | 26.9 | |
NFKBIZ | Missense | 3 | 101574709 | A/C | p.K45T | 26.3 | |
TBL1XR1 | Missense | 3 | 176743302 | A/G | p.510L>S | 26.1 | |
TBL1XR1 | Missense | 3 | 176744171 | G/A | p.S503L | COSM5000343 | 34 |
TBL1XR1 | Splice acceptor | 3 | 176750925 | C/G | NA | 25.8 | |
TBL1XR1 | Deletion | 3 | 176756175-7 | AAG/− | p.SC324-325C | COSM3205534 | NA |
TBL1XR1 | Nonsense | 3 | 176767829 | G/A | p.Q220* | 39 | |
TBL1XR1 | Missense | 3 | 176768267 | C/G | p.G187GR | 33 | |
TBL1XR1 | Frameshift | 3 | 176769342 | T/− | p.N126NX | COSM1420706 | 34 |
PTPN13 | Missense | 4 | 87556423 | T/A | p.L5Q | 33 | |
PTPN13 | Missense | 4 | 87656789 | G/T | p.A732S | COSM5019859 | 27.6 |
PTPN13 | Missense | 4 | 87683919 | A/C | p.N1198T | 3.649 | |
PTPN13 | Missense | 4 | 87696460 | C/A | p.P1882Q | COSM481650 | 25.4 |
NFKB1 | Missense | 4 | 103459060 | G/A | p.G69R | 31 | |
KMT2C | Nonsense | 7 | 151891205 | C/A | p.G1517* | COSM3304224 | 41 |
NOTCH1 | Nonsense | 9 | 139390945 | G/A | p.Q2416* | COSM4775108 | 41 |
NFKB2 | Deletion | 10 | 104160996-1855 | NA | NA | NA | |
NFKB2 | Deletion | 10 | 104160849-1688 | NA | NA | NA | |
ATM | Nonsense | 11 | 108175504 | C/T | p.Q1867* | 37 | |
ATM | Missense | 11 | 108204685 | T/C | p.M2667T | 26.3 | |
KMT2D | Frameshift | 12 | 49433373-4 | −/G CCG CCCCCCT | p.-2691- | NA | |
2692AAPX | |||||||
KMT2D | Missense | 12 | 49445543 | T/G | p.E641D | 5.499 | |
KMT2D | Missense | 12 | 49446710 | G/T | p.P367Q | 11.92 | |
KMT2D | Frameshift | 12 | 49448408 | G/− | p.G101X' | NA | |
TP53 | Missense | 17 | 7577108 | C/A | p.C277F | COSM562338 | 34 |
TP53 | Missense | 17 | 7577114 | C/A | p.C275F | COSM99932 | 34 |
MALT1 | Nonsense | 18 | 56414859 | C/T | p.Q743* | 36 | |
MALT1 | Nonsense | 18 | 56414882 | C/A | p.Y750* | 36 | |
NFKBIB | Frameshift | 19 | 39398226-7 | CT/− | p.P299X | COSM5081722 | NA |
UFD1L | Missense | 22 | 19443248 | C/A | p.G145V | 23.6 | |
KDM6A | Missense | X | 44911044 | T/A | p.L249I | 25.4 | |
KDM6A | Frameshift | X | 44942757 | G/− | p.V1113X | COSM5031082 | NA |
KDM6A | Frameshift | X | 44922936-7 | −/GGAAGTGGAAGT | p-/.599- | NA | |
AAT GGAAAC GTGCC | 600GSGSNGNVX |
CADD, combined annotation dependent depletion; chr, chromosome; COSMIC, Catalogue of Somatic Mutations in Cancer.