TET2 mutations and clinical details
| UPC . | WHO . | Residue change/ mutation position . | RMA (mean) . | SD of RMA . | JAK2 haplotype . | Disease progression . | IPSS . | Outcome . |
|---|---|---|---|---|---|---|---|---|
| 4 | RAEB-II | T1726fsX18 | 39.5 | 0.7 | No | No | 3 | Dead |
| 55 | sAML | P1937S | 15.3 | 1.2 | No | Yes | 3 | Dead |
| P1941S | 17.7 | 0.6 | ||||||
| 571 | CMML-I | A1344E | 46.0 | 7.1 | Yes | No | 1 | Dead |
| 682G | RAEB-II | G1275E [19] | 68.0 | 1.4 | No | Yes | 3 | Dead |
| G1282D | 68.0 | 1.4 | ||||||
| D1844G | 38.0 | 4.2 | ||||||
| 750 | RCMD-RS | R1216Q | 21.5 | 4.9 | No | No | 1 | Dead |
| 783 | RA | Q1529X | 25.0 | 1.0 | No | n/a | n/a | n/a |
| 798 | sAML | H1380P | 47.0 | 1.0 | No | No | 2 | Dead |
| 919 | RAEB-II | A619fsX19 | 86.7 | 1.5 | Yes | Yes | n/a | Dead |
| 957 | RCMD | W564X | 32.5 | 3.5 | Yes | No | 1 | Dead |
| 1074 | RCMD-RS | V872fsX44 | 38.5 | 0.7 | No | No | 0 | Dead |
| 1160 | CMML-I | Splice acceptor 5′ exon 9 | 42.3 | 0.6 | No | No | 1 | Dead |
| 1161 | RCMD | R1216X [9,11] | 18.0 | 2.6 | Yes | No | 1 | Dead |
| 1190 | CMML-I | R1216X [9, 11] | 31.5 | 2.1 | No | No | 1 | Dead |
| T1726fsX18 | 61.0 | 1.4 | ||||||
| 1217 | CMML-I | H1904Q | 45.0 | 4.2 | Yes | Yes | 1 | Dead |
| E1845fsX42 | 42.0 | 1.4 | ||||||
| 1288 | RARS | Q726X | 24.0 | 5.7 | No | No | 0 | Dead |
| 1326 | RCMD | C1193W | 49.0 | 3.0 | No | Yes | 0 | Dead |
| 1392 | CMML-I | D905fsX16 | 38.5 | 3.5 | Yes | No | 0 | Dead |
| 1444 | RCMD | L371X | 47.5 | 0.7 | No | No | 0 | Alive |
| Y1569fsX1 | 37.0 | 2.8 | ||||||
| 1490 | CMML-I | Q1699X | 49.3 | 1.5 | No | Yes | 0 | Dead |
| G1288V | 43.3 | 2.1 | ||||||
| 1586 | RCMD | R1216X [11] | 41.0 | 1.4 | No | No | 1 | Dead |
| 1619 | RAEB-I | Q888X | 44.7 | 0.6 | Yes | No | 1 | Alive |
| R1465X [23] | 35.0 | 2.8 | ||||||
| 1625 | RCMD | S716X | 44.7 | 0.6 | Yes | No | 0.5 | Alive |
| 1672 | RCMD-RS | F1377fsX22 | 84.5 | 0.7 | No | No | 1 | Dead |
| 1681 | RCMD | I1195V | 47.0 | 0.0 | No | No | 0 | Alive |
| 1684 | CMML-I | N1743fsX17 | 45.5 | 0.7 | No | No | 0 | Alive |
| 1702 | CMML-I | V1371fsX76 | 94.0 | 1.4 | No | No | 0 | Dead |
| 1740 | RCMD | Q1529X | 38.0 | 4.2 | Yes | No | 0.5 | Alive |
| 1757 | RAEB-II | Q644X | 36.3 | 3.2 | No | No | 3 | Dead |
| 1857 | CMML-I | R550X | 45.5 | 0.7 | No | Yes | 1 | Dead |
| 1869 | RCMD | Q526X | 41.0 | 1.4 | Yes | No | 1 | Dead |
| 1906 | RAEB-II | Splice acceptor 5′ exon 5 | 79.0 | 1.4 | No | No | 3 | Dead |
| 1932* | RCMD | V1862fsX24 | 97.5 | 0.7 | Homozygous | No | 0 | Alive |
| 1980 | CMML-I | A707fsX9 | 49.5 | 0.7 | No | No | 0 | Alive |
| 2007 | RCMD | P1962L [11] | 40.0 | 2.1 | Yes | No | 0 | Alive |
| L1360R | 36.0 | 4.2 | ||||||
| Q644X | 35.5 | 0.7 | ||||||
| 2222 | RAEB-II | A1355P | 26.0 | 2.0 | No | No | 2 | Dead |
| V160fsX22 | 19.0 | 2.6 | ||||||
| 2236 | CMML-I | Splice donor 3′ exon 10 | 42.0 | 2.6 | No | No | 0 | Dead |
| Y1631fsX28 | 50.5 | 0.7 | ||||||
| 2296 | RCMD-RS | E259X | 42.7 | 3.1 | No | n/a | 1 | Dead |
| Q888X | 47.5 | 0.7 | ||||||
| 2298 | RAEB-I | E576X | 43.5 | 0.7 | No | No | 1 | Alive |
| 2306* | RCMD | T1393P | 39.0 | 2.1 | No | No | 0 | Alive |
| 2392 | RCMD | P1962L [11] | 50.0 | 0.5 | No | No | 0 | Dead |
| 2483 | CMML-I | R1216X | 92.7 | 3.1 | Yes | No | 1 | Alive |
| 2545 | RAEB-II | F1287fsX75 | 20.3 | 7.1 | Yes | Yes | 3 | Alive |
| 2582 | sAML | R1261G | 42.0 | 2.8 | Yes | Yes | 3 | Dead |
| 2644 | RCMD-RS | A1876G | 46.7 | 1.5 | Yes | Yes | 0 | Alive |
| H1904R | 46.0 | 1.0 | ||||||
| 2705 | sAML | P1194A | 41.0 | 1.4 | No | No | 3 | Alive |
| 2719* | MDS/MPN-U | C1273F | 70.7 | 2.1 | No | Yes | 0 | Alive |
| R1452X | 20.0 | 3.0 | ||||||
| 2789 | RAEB-II | R1465Q | 40.0 | 0.0 | Yes | Yes | 2 | Dead |
| 2859 | RCMD | I1873N | 39.0 | 1.4 | Yes | No | 0.5 | Dead |
| Q1687X | 40.5 | 0.7 | ||||||
| 2874 | RCMD | P555fsX5 [11] | 49.5 | 0.7 | No | No | 1 | Alive |
| 2984 | CMML-II | H1380Y | 50.0 | 0.6 | Yes | No | 2 | Dead |
| 3181 | CMML-II | Q888X | 43.0 | 1.4 | Yes | No | . | Dead |
| 3198 | RAEB-II | P1629fsX31 | 89.5 | 0.7 | No | Yes | 2 | Alive |
| 3232 | CMML-I | S1303fsX58 | 44.0 | 1.4 | Yes | No | 0 | Alive |
| 3266 | CMML-I | Q1020fsX16 | 85.0 | 6.1 | No | Yes | 0.5 | Alive |
| 3338 | RCMD | Q910X | 37.0 | 1.4 | No | No | 0.5 | Alive |
| UPC . | WHO . | Residue change/ mutation position . | RMA (mean) . | SD of RMA . | JAK2 haplotype . | Disease progression . | IPSS . | Outcome . |
|---|---|---|---|---|---|---|---|---|
| 4 | RAEB-II | T1726fsX18 | 39.5 | 0.7 | No | No | 3 | Dead |
| 55 | sAML | P1937S | 15.3 | 1.2 | No | Yes | 3 | Dead |
| P1941S | 17.7 | 0.6 | ||||||
| 571 | CMML-I | A1344E | 46.0 | 7.1 | Yes | No | 1 | Dead |
| 682G | RAEB-II | G1275E [19] | 68.0 | 1.4 | No | Yes | 3 | Dead |
| G1282D | 68.0 | 1.4 | ||||||
| D1844G | 38.0 | 4.2 | ||||||
| 750 | RCMD-RS | R1216Q | 21.5 | 4.9 | No | No | 1 | Dead |
| 783 | RA | Q1529X | 25.0 | 1.0 | No | n/a | n/a | n/a |
| 798 | sAML | H1380P | 47.0 | 1.0 | No | No | 2 | Dead |
| 919 | RAEB-II | A619fsX19 | 86.7 | 1.5 | Yes | Yes | n/a | Dead |
| 957 | RCMD | W564X | 32.5 | 3.5 | Yes | No | 1 | Dead |
| 1074 | RCMD-RS | V872fsX44 | 38.5 | 0.7 | No | No | 0 | Dead |
| 1160 | CMML-I | Splice acceptor 5′ exon 9 | 42.3 | 0.6 | No | No | 1 | Dead |
| 1161 | RCMD | R1216X [9,11] | 18.0 | 2.6 | Yes | No | 1 | Dead |
| 1190 | CMML-I | R1216X [9, 11] | 31.5 | 2.1 | No | No | 1 | Dead |
| T1726fsX18 | 61.0 | 1.4 | ||||||
| 1217 | CMML-I | H1904Q | 45.0 | 4.2 | Yes | Yes | 1 | Dead |
| E1845fsX42 | 42.0 | 1.4 | ||||||
| 1288 | RARS | Q726X | 24.0 | 5.7 | No | No | 0 | Dead |
| 1326 | RCMD | C1193W | 49.0 | 3.0 | No | Yes | 0 | Dead |
| 1392 | CMML-I | D905fsX16 | 38.5 | 3.5 | Yes | No | 0 | Dead |
| 1444 | RCMD | L371X | 47.5 | 0.7 | No | No | 0 | Alive |
| Y1569fsX1 | 37.0 | 2.8 | ||||||
| 1490 | CMML-I | Q1699X | 49.3 | 1.5 | No | Yes | 0 | Dead |
| G1288V | 43.3 | 2.1 | ||||||
| 1586 | RCMD | R1216X [11] | 41.0 | 1.4 | No | No | 1 | Dead |
| 1619 | RAEB-I | Q888X | 44.7 | 0.6 | Yes | No | 1 | Alive |
| R1465X [23] | 35.0 | 2.8 | ||||||
| 1625 | RCMD | S716X | 44.7 | 0.6 | Yes | No | 0.5 | Alive |
| 1672 | RCMD-RS | F1377fsX22 | 84.5 | 0.7 | No | No | 1 | Dead |
| 1681 | RCMD | I1195V | 47.0 | 0.0 | No | No | 0 | Alive |
| 1684 | CMML-I | N1743fsX17 | 45.5 | 0.7 | No | No | 0 | Alive |
| 1702 | CMML-I | V1371fsX76 | 94.0 | 1.4 | No | No | 0 | Dead |
| 1740 | RCMD | Q1529X | 38.0 | 4.2 | Yes | No | 0.5 | Alive |
| 1757 | RAEB-II | Q644X | 36.3 | 3.2 | No | No | 3 | Dead |
| 1857 | CMML-I | R550X | 45.5 | 0.7 | No | Yes | 1 | Dead |
| 1869 | RCMD | Q526X | 41.0 | 1.4 | Yes | No | 1 | Dead |
| 1906 | RAEB-II | Splice acceptor 5′ exon 5 | 79.0 | 1.4 | No | No | 3 | Dead |
| 1932* | RCMD | V1862fsX24 | 97.5 | 0.7 | Homozygous | No | 0 | Alive |
| 1980 | CMML-I | A707fsX9 | 49.5 | 0.7 | No | No | 0 | Alive |
| 2007 | RCMD | P1962L [11] | 40.0 | 2.1 | Yes | No | 0 | Alive |
| L1360R | 36.0 | 4.2 | ||||||
| Q644X | 35.5 | 0.7 | ||||||
| 2222 | RAEB-II | A1355P | 26.0 | 2.0 | No | No | 2 | Dead |
| V160fsX22 | 19.0 | 2.6 | ||||||
| 2236 | CMML-I | Splice donor 3′ exon 10 | 42.0 | 2.6 | No | No | 0 | Dead |
| Y1631fsX28 | 50.5 | 0.7 | ||||||
| 2296 | RCMD-RS | E259X | 42.7 | 3.1 | No | n/a | 1 | Dead |
| Q888X | 47.5 | 0.7 | ||||||
| 2298 | RAEB-I | E576X | 43.5 | 0.7 | No | No | 1 | Alive |
| 2306* | RCMD | T1393P | 39.0 | 2.1 | No | No | 0 | Alive |
| 2392 | RCMD | P1962L [11] | 50.0 | 0.5 | No | No | 0 | Dead |
| 2483 | CMML-I | R1216X | 92.7 | 3.1 | Yes | No | 1 | Alive |
| 2545 | RAEB-II | F1287fsX75 | 20.3 | 7.1 | Yes | Yes | 3 | Alive |
| 2582 | sAML | R1261G | 42.0 | 2.8 | Yes | Yes | 3 | Dead |
| 2644 | RCMD-RS | A1876G | 46.7 | 1.5 | Yes | Yes | 0 | Alive |
| H1904R | 46.0 | 1.0 | ||||||
| 2705 | sAML | P1194A | 41.0 | 1.4 | No | No | 3 | Alive |
| 2719* | MDS/MPN-U | C1273F | 70.7 | 2.1 | No | Yes | 0 | Alive |
| R1452X | 20.0 | 3.0 | ||||||
| 2789 | RAEB-II | R1465Q | 40.0 | 0.0 | Yes | Yes | 2 | Dead |
| 2859 | RCMD | I1873N | 39.0 | 1.4 | Yes | No | 0.5 | Dead |
| Q1687X | 40.5 | 0.7 | ||||||
| 2874 | RCMD | P555fsX5 [11] | 49.5 | 0.7 | No | No | 1 | Alive |
| 2984 | CMML-II | H1380Y | 50.0 | 0.6 | Yes | No | 2 | Dead |
| 3181 | CMML-II | Q888X | 43.0 | 1.4 | Yes | No | . | Dead |
| 3198 | RAEB-II | P1629fsX31 | 89.5 | 0.7 | No | Yes | 2 | Alive |
| 3232 | CMML-I | S1303fsX58 | 44.0 | 1.4 | Yes | No | 0 | Alive |
| 3266 | CMML-I | Q1020fsX16 | 85.0 | 6.1 | No | Yes | 0.5 | Alive |
| 3338 | RCMD | Q910X | 37.0 | 1.4 | No | No | 0.5 | Alive |
TET2 mutations in the 355 MDS patient cohort. Details of all TET2 mutations and patient context are shown. The average (mean) and standard deviation (SD) for relative mutation abundance (RMA) are shown and are based on a combined sequence coverage of > 500×. Relevant clinical details are also shown for each patient, who are referred to by a unique patient code (UPC).
Genomic aberrations at the TET2 locus relating to SNP6 experiments are indicated. All frame-shift mutations (fs) are, by their nature, Indel mutations and are described by the number of amino acids corresponding to the length of the new frame after the Indel event, which is indicated at the end of the mutation description. Mutations previously referenced by the 4 largest studies, to date, are highlighted and referenced. The presence of the JAK2V617F 46/1 predisposition genotype (haplotype), indicated by a “yes,” corresponds to a heterozygous state.