2015-E 007 CMML-1. No pathogenic variants. 2015-E 008 PMF. SF3B1 p.K700E. 36,00%. 3793. 6050,6. CALR p.K385Nfs*47. 37,40%. 5551. 6296,0. 2015-001.
Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms Supplementary Material Table S1 Comparison of variant calls from two follow-up biopsies sequenced in independent runs. Follow-up biopsies originate from a patient with known JAK2 V617F mutation with minimal allele frequency. Sample 04/2002 Chrom
Position
Ref
Variant
Region Name
Frequency
Quality
Sample 11/2002
Original
Allele
Allele
Allele
Coverage
Cov
Cov+
Cov-
Frequency
Quality
Original
Allele
Allele
Allele
Coverage
Cov
Cov+
Cov-
chr2
25458379
G
A
AMPL7158937902
100.0
31811.9
2954
1994
1105
889
100.0
31790.7
2916
1993
1069
924
chr2
25458546
C
T
AMPL7153220281
100.0
31887.2
3139
1995
1043
952
100.0
31814.9
3098
1994
1052
942
chr2
25463483
G
A
AMPL7158937916
51.0
10480.7
2180
1019
520
499
47.7
9444.2
2390
954
492
462
chr2
25466888
G
T
AMPL7153037750
100.0
31983.3
3084
1994
844
1150
100.0
31897.4
2895
1990
856
1134
chr2
25468903
C
T
AMPL7157676388
4.4
67.3
2444
88
60
28
5.9
169.6
1967
117
73
44
chr4
106155637
C
T
AMPLP227749409
47.5
5864.0
1249
593
295
298
43.6
6329.7
1552
677
298
379
chr4
106196092
C
T
TET2_83.1.251757
100.0
30043.9
1892
1886
939
947
100.0
31738.3
2333
1991
963
1028
chr4
106196213
C
T
TET2_83.1.9577
49.7
2986.0
603
300
166
134
39.0
2759.9
798
312
169
143
chr4
106196951
A
G
AMPLP227360575
52.8
4149.4
756
400
204
196
50.2
5845.6
1139
574
291
283
chr4
106197561
T
A
TET2_83.3.124254
5.3
119.9
4388
105
63
42
4.9
95.8
3976
98
60
38
chr5
170837457
A
G
NPM1_95.96219
59.4
1319.8
195
117
97
20
44.4
1293.0
312
139
98
41
chr7
148508833
A
G
AMPL7155533243
97.9
26530.7
2466
1955
1030
925
96.0
27707.4
3513
1920
1023
897
chr9
5073770
G
T
AMPLP224028005
4.7
52.3
1097
52
4
48
7.1
218.5
1554
111
23
88
chr11
32417945
T
C
WT1_142.70263
49.2
9900.1
2337
982
551
431
51.8
10738.3
2304
1035
527
508
chr11
119149134
TG
GT
CBL_157.8447
5.4
81.1
1165
63
38
25
9.0
239.4
667
115
100
15
chr17
7578115
T
C
TP53_8.884088
100.0
31340.3
2317
1978
911
1067
100.0
31809.2
2335
1991
935
1056
chr17
7578645
C
T
TP53_10.1.470
100.0
26084.3
1631
1635
665
970
100.0
29414.0
1847
1848
802
1046
chr17
7579472
G
C
TP53_11.1324631
50.2
10036.5
1596
986
410
576
51.3
10368.1
1843
1005
480
525
chr19
13054781
G
T
AMPL7158937925
100.0
31969.0
2470
1998
955
1043
99.9
31830.4
2560
1993
931
1062
chr20
31022959
T
C
ASXL1_235.2.155437
100.0
31564.8
3066
1985
892
1093
100.0
31789.5
2492
1992
875
1117
-1-
Table S2 Technical performance of the HD200 control from Horizon Discovery™ DNA sequenced with our MDS/MPN-Panel. Results from two different runs are shown. In total five pathogenic mutations of the control DNA are targeted from the panel.
Run 1
Run 2
Mapped Reads Mean Depth On Target Uniformity
518815 965600 2325 4282 98,30% 98,31% 98,70% 94,86% Frequency Reads Quality Frequency Reads Quality NRAS p.Q61K 11,40% 2175 782,2 11,20% 8812 767,2 KIT p.D816V 8,40% 1506 309,8 8,20% 1462 288,1 BRAF p.V600E 12,70% 3734 983,0 11,80% 3363 849,3 KRAS p.G12D 14,00% 1599 951,8 12,00% 1412 626,5 KRAS p.G13D 6,30% 1596 164,7 4,50% 1410 55,7
-2-
Table S3 Sequencing performance of all FFPE diagnostic patient samples (n = 116). Seven samples (2015-022, 2015-079, 2015-098, 2015-111, 2015-130, 2015-131 and 2015-138) failed in sequencing, values of these seven samples are not included in any mean values. Library Conc. pM
Sequencing Quality Mean
DNA No. Sample
ng/µl
Pool 1
Pool 2
Pool 3
Mean
Mapped
Mean
Library
Reads
Coverage
On Target
Uniformity
Read length (bp.)
2015-E 001
36,5
142
142
214
166
1.050.799
4.093
94,95%
92,13%
113
2015-E 002
51,0
526
526
991
681
887.979
3.591
97,64%
90,19%
116
2015-E 003
44,6
605
401
929
645
934.096
3.982
98,40%
97,56%
122
2015-E 004
32,8
536
312
442
430
1.242.997
5.411
97,90%
96,79%
125
2015-E 005
12,0
1016
579
899
831
868.463
3.687
97,87%
95,86%
122
2015-E 006
33,7
191
134
200
175
783.659
3.221
97,50%
87,62%
116
2015-E 007
86,0
2223
1954
1968
2048
1.016.427
4.477
98,06%
98,00%
128
2015-E 008
31,4
1019
776
531
775
814.473
3.331
98,57%
91,73%
116
2015-001
50,0
47
36
56
46
845.304
3.848
97,25%
92,38%
137
2015-002
28,5
22
53
49
41
725.978
3.139
96,97%
94,79%
131
2015-003
38,4
35
41
50
42
718.161
3.202
97,75%
93,38%
134
2015-004
4,8
1268
1130
1175
1191
963.055
4.339
98,57%
91,73%
129
2015-005
16,3
1919
1694
1521
1711
988.314
4.359
98,97%
94,91%
126
2015-006
22,1
372
391
434
399
674.108
2.721
96,13%
95,43%
117
2015-007
31,8
2018
2163
2301
2161
484.104
2.161
98,13%
97,47%
130
2015-008
2,7
6194
7516
3141
5617
576.804
2.484
99,28%
93,84%
125
2015-009
32,7
1225
1159
1330
1238
432.662
1.921
97,96%
98,03%
129
2015-010
8,7
166
168
174
169
577.653
2.457
97,86%
98,05%
121
2015-011
6,3
39
28
53
40
428.231
1.504
89,67%
79,26%
104
2015-012
35,6
94
101
108
101
653.115
2.454
93,39%
83,29%
109
2015-013
2,5
446
396
348
397
825.730
3.480
98,68%
94,65%
120
2015-014
36,8
1007
1205
1094
1102
510.592
2.106
96,86%
96,61%
121
2015-015
5,1
3041
3027
3076
3048
571.850
2.444
97,35%
96,15%
126
2015-016
2,5
1778
1012
13
934
385.791
1.404
91,45%
68,48%
113
2015-017
2,1
836
541
20
466
343.826
1.174
86,58%
77,68%
111
2015-018
90,0
4487
5058
3981
4509
608.348
2.452
96,95%
96,64%
121
2015-019
43,4
1459
893
959
1104
526.366
2.109
97,24%
92,05%
116
2015-020
56,0
1778
1567
1459
1601
552.956
2.259
97,14%
95,66%
119
2015-021
55,0
1977
1786
1585
1783
633.040
2.512
95,97%
96,15%
118
2015-022
3,3
3
2
3
3
15.193
2.529
5,73%
68,61%
97
2015-023
18,6
1159
644
1042
948
548.303
2.486
97,99%
95,51%
131
2015-024
28,4
771
540
729
680
585.361
2.637
98,45%
96,40%
129
2015-025
57,0
1596
2661
2483
2247
710.800
3.186
98,77%
95,73%
131
2015-026
30,5
1762
1828
1596
1729
716.054
3.262
98,54%
95,47%
132
2015-027
5,0
668
483
735
629
590.127
2.599
98,94%
96,05%
125
2015-028
10,3
390
255
405
350
645.495
2.732
97,95%
93,99%
121
2015-029
27,0
1321
1306
1250
1292
692.509
3.050
97,47%
96,65%
128
2015-030
6,4
2018
1858
1596
1824
726.512
3.235
96,59%
97,86%
132
2015-031
54,0
2404
2080
1754
2079
593.719
2.588
97,33%
97,33%
128
-3-
2015-032
53,0
910
859
855
875
661.876
2.747
97,01%
92,28%
119
2015-033
46,6
1346
920
1000
1089
804.977
3.553
97,59%
98,25%
128
2015-034
17,6
757
560
635
651
739.619
3.334
97,77%
97,98%
130
2015-035
4,0
218
119
49
129
439.412
1.684
96,59%
78,45%
110
2015-036
26,3
522
419
393
445
620.343
2.648
97,29%
96,20%
123
2015-037
86,0
1256
1432
1567
1418
702.453
3.071
96,67%
97,64%
129
2015-038
41,0
193
196
171
187
313.684
1.257
96,73%
94,79%
115
2015-039
43,7
557
515
433
502
360.957
1.481
96,10%
97,43%
120
2015-040
6,0
478
403
461
447
399.443
1.691
97,85%
98,69%
121
2015-041
21,7
456
363
354
391
403.749
1.690
97,99%
96,88%
120
2015-042
7,4
831
813
445
696
442.212
1.894
97,97%
95,92%
124
2015-043
36,3
508
580
423
504
348.182
1.504
98,08%
95,09%
124
2015-044
1,1
76
9
5
30
226.751
707
91,18%
62,38%
97
2015-045
7,1
128
161
137
142
453.359
1.847
96,99%
93,71%
116
2015-046
32,5
582
422
493
499
586.846
2.580
98,14%
97,63%
126
2015-047
53,0
764
976
628
789
623.943
2.742
98,05%
98,36%
126
2015-048
39,9
91
61
61
71
412.709
1.718
97,55%
91,13%
118
2015-049
13,0
161
160
144
155
558.811
2.370
98,17%
94,39%
120
2015-050
54,0
93
62
68
74
452.076
1.768
95,15%
92,04%
113
2015-051
106,0
263
244
220
242
538.305
2.318
97,89%
97,90%
123
2015-052
1,9
98
35
28
54
434.431
1.574
96,15%
81,79%
106
2015-053
3,0
191
175
144
170
527.886
2.221
97,91%
96,95%
120
2015-054
15,7
633
1155
1316
1035
642.989
2.743
97,94%
98,15%
128
2015-055
19,8
412
370
361
381
535.469
2.305
97,60%
95,86%
123
2015-056
37,3
536
390
478
468
501.197
2.178
97,58%
96,13%
124
2015-057
7,8
655
1347
1597
1200
854.063
3.801
98,66%
96,37%
128
2015-058
43,7
635,2
1184
1314
1044
799.441
3.511
97,99%
96,61%
127
2015-059
54,0 1245,8
1091
1057
1131
557.365
2.481
98,23%
97,30%
129
2015-060
17,4
983,2
876
1053
971
595.193
2.633
98,33%
98,20%
127
2015-061
34,7
145,4
91
100
112
485.481
1.972
97,10%
85,36%
116
2015-062
120,0
1029
880
835
915
636.745
2.769
97,45%
97,86%
126
2015-063
35,1
207
145
178
177
582.472
2.412
97,21%
93,54%
118
2015-064
10,1
300
201
244
248
528.471
2.259
98,45%
95,52%
121
2015-065
55,0
1137
1037
1004
1059
578.552
2.502
97,39%
98,30%
126
2015-066
7,8
186
164
191
180
536.401
2.184
98,00%
91,10%
115
2015-067
24,2
25
24
23
24
364.185
1.444
97,01%
75,91%
112
2015-068
24,9
107
75
95
92
536.458
2.272
98,49%
95,09%
120
2015-069
46,4
75
72
107
85
591.112
2.530
98,69%
95,29%
121
2015-070
13,7
496
16
455
322
1.460.412
6.327
98,18%
55,27%
124
2015-071
49,1
840
833
824
832
241.906
1.088
97,18%
97,89%
133
2015-072
29,5
383
370
322
358
209.396
910
98,04%
96,52%
124
2015-073
8,1
503
548
480
510
255.978
1.127
98,50%
95,07%
127
2015-074
13,5
57
34
94
62
190.567
732
97,63%
68,16%
110
2015-075
18,2
29
11
15
18
235.260
932
95,74%
91,12%
114
2015-076
11,6
464
408
422
431
434.461
1.860
97,46%
97,18%
123
2015-077
57,0
157
157
6
107
483.688
1.926
93,72%
95,15%
116
-4-
2015-078
20,2
320
247
266
278
457.096
1.963
97,26%
95,76%
123
2015-079
1,8
8
4
5
6
138.862
293
66,28%
35,70%
90
2015-080
56,0
16
495
729
413
1.187.940
5.200
98,80%
92,01%
125
2015-081
12,4
458
359
441
419
797.264
3.490
98,69%
97,19%
125
2015-082
2,2
664
534
676
625
783.543
3.425
98,41%
97,42%
125
2015-083
46,1
1141
1102
1300
1181
616.937
2.771
98,32%
96,87%
130
2015-084
51,0
946
1006
161
704
649.709
2.824
98,15%
96,00%
126
2015-085
29,2
139
108
154
134
1.396.553
5.584
96,17%
89,18%
115
2015-086
25,7
659
795
1502
985
598.093
2.686
98,61%
93,32%
130
2015-087
19,9
135
98
497
243
612.553
2.646
98,21%
93,34%
124
2015-088
37,1
123
148
149
140
857.383
3.433
98,32%
78,89%
113
2015-089
46,9
1717
1563
1710
1663
692.126
3.060
98,09%
96,88%
128
2015-090
49,9
778
601
831
737
723.980
3.209
98,36%
97,53%
128
2015-091
9,0
33
802
421
419
1.385.381
6.112
99,22%
82,15%
126
2015-092
49,5
378
453
427
419
624.297
2.637
97,82%
95,45%
122
2015-093
31,3
191
147
176
171
675.129
2.747
97,53%
80,70%
115
2015-094
8,3
158
156
133
149
652.720
2.709
98,52%
93,64%
117
2015-095
9,4
269
234
254
252
810.897
3.455
98,72%
95,34%
121
2015-096
14,5
607
511
566
561
989.052
4.367
98,05%
97,14%
127
2015-097
4,4
488
385
174
349
264.424
1.049
97,60%
77,68%
112
2015-098
4,4
12
11
3
9
19.692
0
0,25%
98,16%
120
2015-099
17,0
2749
2424
1269
2147
423.769
1.896
98,40%
97,89%
129
2015-100
19,9
141
846
365
451
891.748
3.809
98,97%
83,59%
121
2015-101
31,6
2209
1992
859
1687
405.777
1.773
99,02%
96,46%
126
2015-102
6,4
344
216
108
223
273.387
1.068
97,21%
81,14%
111
2015-103
41,4
2679
2241
1342
2087
429.211
1.898
99,37%
96,19%
130
2015-104
2,5
276
95
39
137
198.106
714
98,01%
69,12%
103
2015-105
33,2
985
875
1000
953
823.993
3.694
98,06%
97,37%
130
2015-106
28,3
431
313
354
366
807.239
3.494
97,61%
97,17%
124
2015-107
39,3
736
39
596
457
802.750
3.509
97,90%
95,19%
125
2015-108
13,9
568
311
488
456
793.237
3.491
98,01%
97,40%
126
2015-109
21,1
158
88
137
128
1.223.296
5.325
97,44%
97,96%
125
2015-110
20,1
353
266
349
323
842.417
3.715
97,62%
97,37%
127
2015-111
20,5
4
5
5
5
19.659
28
37,82%
38,14%
57
2015-112
25,7
56
62
64
61
754.792
3.081
95,54%
94,71%
118
2015-113
36,6
646
746
606
666
913.819
4.150
98,12%
96,66%
131
2015-114
13,2
540
572
614
575
835.836
3.790
98,21%
96,69%
131
2015-115
28,6
2679
2540
2346
2522
789.090
3.670
98,04%
97,36%
141
2015-116
2,9
33
13
18
21
461.532
1.407
87,40%
68,57%
103
2015-117
4,8
46
43
89
59
576.905
2.477
99,06%
92,15%
121
2015-118
42,4
54
64
226
115
1.026.432
4.540
98,51%
87,12%
126
2015-119
41,0
14
41
133
63
827.413
3.541
98,44%
90,01%
121
2015-120
47,4
86
113
449
216
889.862
3.995
98,80%
95,29%
128
2015-121
13,2
275
387
273
312
621.685
2.658
99,38%
93,71%
124
2015-122
35,5
120
125
122
122
662.579
2.895
97,76%
95,26%
126
2015-123
15,4
115
112
105
111
702.487
3.100
98,46%
97,02%
126
-5-
2015-124
2,5
47
81
44
57
638.197
2.752
98,97%
96,52%
124
2015-125
28,4
82
130
64
92
613.392
2.717
97,48%
96,88%
128
2015-126
40,1
59
73
40
57
660.676
2.848
98,34%
95,18%
123
2015-127
1,3
88
80
34
67
635.067
2.644
99,53%
89,21%
118
2015-128
3,0
71
4
6
27
253.048
885
96,63%
61,13%
103
2015-129
10,6
103
123
115
114
682.662
2.965
98,62%
95,57%
124
2015-130
4,1
1
3
2
2
3.834
0
0,16%
99,92%
125
2015-131
8,6
1
2
2
2
4.689
2
11,60%
66,79%
111
2015-132
34,6
238
90
125
151
612.935
2.649
98,99%
95,58%
122
2015-133
13,5
107
86
114
102
636.697
2.773
99,16%
95,38%
123
2015-134
35,0
88
92
84
88
586.616
2.504
98,28%
93,24%
121
2015-135
13,7
245
219
305
256
716.442
3.058
99,31%
84,97%
121
2015-136
17,2
181
205
217
201
702.079
3.115
98,94%
95,87%
126
2015-137
29,4
475
1023
1327
942
631.241
2.745
96,90%
97,87%
127
2015-138
4,8
6
6
6
6
98.746
134
34,06%
36,97%
100
2015-139
10,7
847
853
80
593
448.507
1.940
98,89%
73,90%
123
2015-140
43,6
1683
1803
2065
1850
605.802
2.661
97,80%
97,27%
128
2015-141
32,7
426
893
1009
776
903.893
3.842
97,41%
96,56%
123
2015-142
55,0
2786
3251
3365
3134
580.383
2.570
97,88%
98,06%
132
2015-143
13,1
494
570
512
525
848.944
3.632
96,74%
97,20%
123
2015-144
23,7
1074
466
881
807
943.470
4.092
95,85%
97,62%
127
2015-145
12,9
249
185
120
185
760.606
3.256
94,52%
97,79%
125
2015-146
12,0
1009
1230
1274
1171
476.338
2.176
97,50%
97,93%
133
2015-147
10,2
488
512
482
494
474.162
2.037
97,47%
96,39%
123
2015-148
7,0
194
160
270
208
568.684
2.339
96,62%
91,10%
117
2015-149
21,4
574
459
519
517
556.858
2.404
96,62%
96,94%
125
2015-150
27,1
847
887
1361
1032
613.043
2.716
97,15%
98,32%
128
2015-151
42,3
918
2917
2818
2218
534.055
2.373
96,20%
97,04%
133
2015-152
3,8
3606
2858
3062
3175
554.192
2.328
95,49%
97,21%
129
2015-153
18,8
372
408
252
344
746.618
3.233
98,05%
96,12%
124
2015-154
24,5
481
408
436
442
490.808
2.179
98,57%
97,61%
127
2015-155
15,7
498
561
117
392
1.175.201
5.325
98,31%
92,36%
130
2015-156
5,7
148
149
176
158
504.040
2.160
98,68%
96,01%
121
2015-157
4,6
512
494
201
402
880.898
3.983
99,06%
94,18%
128
2015-158
10,2
665
661
174
500
1.111.207
5.069
98,85%
93,09%
130
2015-159
2,2
166
7
171
115
289.334
1.153
98,61%
61,51%
112
2015-160
15,9
335
457
10
267
606.260
2.630
98,51%
97,40%
124
2015-161
15,9
624
232
316
391
431.909
1.926
98,53%
94,35%
127
2015-162
15,7
310
239
454
334
612.201
2.631
98,22%
95,23%
123
2015-163
8,3
454
146
169
256
384.075
1.676
98,53%
89,81%
124
2015-164
35,8
107
165
139
137
671.726
2.953
98,61%
96,48%
126
2015-165
19,4
289
115
137
180
628.467
2.783
98,46%
90,90%
126
2015-166
2,1
542
124
177
281
494.854
2.145
99,22%
84,60%
123
2015-167
5,2
98
304
265
222
537.695
2.333
98,33%
94,53%
124
2015-168
17,4
103
388
711
401
479.607
2.130
98,68%
95,58%
127
2015-169
10,8
144
290
673
369
454.384
2.021
98,59%
97,90%
127
-6-
2015-170
7,4
179
251
2015-171 2015-172
48,8
661
1285
52,0
1892
497
2015-173
2,2
144
131
2015-174
7,6
171
2015-175
28,3
2015-176
402
277
399.691
1.728
98,68%
96,23%
122
39
662
1.197.377
5.469
98,51%
87,81%
134
3565
1985
846.851
3.821
98,52%
91,90%
141
70
115
440.253
1.833
98,39%
88,32%
118
375
470
339
401.136
1.720
97,01%
96,00%
123
282
290
673
415
759.128
3.328
97,53%
95,30%
127
2,0
67
65
2
45
333.234
1.363
98,42%
66,71%
115
2015-177
6,0
407
692
1524
874
499.796
2.151
98,87%
95,30%
123
2015-178
2,6
173
165
10
116
371.645
1.455
97,17%
69,44%
111
2015-179
3,9
31
32
22
28
520.782
2.083
98,23%
80,04%
113
2015-180
2,2
280
151
21
151
577.144
2.190
97,33%
72,16%
108
2015-181
11,5
1175
913
651
913
558.979
2.456
97,40%
97,10%
127
2015-182
11,1
2583
2502
2277
2454
399.566
1.706
97,69%
93,15%
126
2015-183
25,5
2618
2381
1419
2139
194.582
865
98,09%
97,22%
131
2015-184
51,0
2617
2700
1303
2207
179.847
810
98,25%
96,91%
132
Mean
25,6
802
766
699
689
627.853
2.674
97,4%
92,5%
122
Min
1,1
14
4
2
18
179.847
707
86,6%
55,3%
97
Max
120,0
6194
7516
3981
5617
1.460.412
6.327
99,5%
98,7%
141
-7-
Table S4 Mean total amplicon coverage of 18 samples (2015-E-006, 2015-E-007, 2015-E-008, 2015-004, 2015-005, 2015-014, 2015-015, 2015-016, 2015-017, 2015-018, 2015-020, 2015-021, 2015-083, 2015-084, 2015-093, 2015-094, 2015-096, 2015-097) from five different analyzes. Shown are the total mean amplicon coverage, as well as the forward and reverse mean coverage. contig_id contig_srt
contig_end
region_id
Mean total
Mean forward Mean reverse
reads
reads
reads
chr1
36931916
36932032 AMPL7153060511
3436,0
1452,2
1983,8
chr1
36932033
36932156 AMPL7158937900
2618,0
1311,1
1306,9
chr1
36932111
36932214 AMPL7158937912
2010,7
963,9
1046,8
chr1
36932171
36932287 AMPL7158937892
2611,4
1486,2
1125,2
chr1
36932227
36932354 AMPL7156840030
2402,7
1260,6
1142,2
chr1
36932336
36932425 AMPL7157789393
3057,3
1775,0
1282,3
chr1
36932398
36932529 AMPL7158937893
1341,7
625,8
715,9
chr1
36933366
36933484 AMPL7155531207
2562,5
1269,0
1293,5
chr1
36933455
36933585 AMPL7156840031
2056,6
1205,7
850,9
chr1
115256351 115256498 NRAS_5.197421
2072,0
1143,8
928,2
chr1
115256488 115256624 NRAS_5.7942
2752,4
2292,9
459,5
chr1
115258638 115258815 AMPLP223653945
1287,2
547,8
739,4
chr2
25457126
25457248 AMPL7158937901
3937,3
1829,6
2107,7
chr2
25457291
25457423 AMPL7158937913
2463,1
1238,4
1224,7
chr2
25457365
25457485 AMPL7157783600
1651,7
968,9
682,7
chr2
25458376
25458481 AMPL7158937902
3266,7
1600,4
1666,3
chr2
25458466
25458588 AMPL7158937914
2346,1
1297,7
1048,3
chr2
25458501
25458627 AMPL7153220281
1308,8
608,4
700,4
chr2
25458590
25458720 AMPL7155490169
2772,5
1374,5
1398,0
chr2
25459690
25459779 AMPL7158937915
4538,4
2494,6
2043,9
chr2
25459814
25459909 AMPL7158937894
36,0
23,6
12,4
chr2
25459871
25459998 AMPL7158937903
2378,0
1223,9
1154,1
chr2
25461879
25462002 AMPL7153001557
2311,7
1222,7
1088,9
chr2
25462003
25462116 AMPL7153001558
1980,8
1014,7
966,1
chr2
25462061
25462180 AMPL7156813272
3051,9
1516,8
1535,1
chr2
25463103
25463222 AMPL7153278697
1879,3
893,3
985,9
chr2
25463205
25463329 AMPL7153515745
1726,9
817,3
909,6
chr2
25463307
25463433 AMPL7153037882
3030,7
1710,1
1320,7
chr2
25463445
25463567 AMPL7158937916
2907,4
1465,1
1442,3
chr2
25463513
25463608 AMPL7157119832
3661,6
1607,8
2053,7
chr2
25463610
25463742 AMPL7158937904
3025,1
1531,0
1494,1
chr2
25464310
25464433 AMPL7153001561
2234,4
950,3
1284,2
chr2
25464434
25464527 AMPL7158937895
3519,2
1822,7
1696,5
chr2
25464518
25464602 AMPL7157700544
4922,6
2468,1
2454,4
chr2
25466683
25466811 AMPL7156003641
2492,6
1236,1
1256,4
chr2
25466846
25466930 AMPL7157676386
2918,7
1392,1
1526,7
chr2
25466882
25467014 AMPL7153037750
928,1
152,7
775,4
chr2
25467000
25467099 AMPL7158937917
1659,3
976,8
682,5
chr2
25467052
25467137 AMPL7158937896
2009,8
1029,2
980,7
chr2
25467135
25467265 AMPL7153948626
3460,5
1734,1
1726,4
chr2
25467243
25467372 AMPL7153037755
732,3
718,4
13,9
chr2
25467287
25467416 AMPL7157700521
1140,5
592,1
548,4
chr2
25467390
25467493 AMPL7158937905
3721,8
1443,0
2278,8
chr2
25467427
25467542 AMPL7158937918
2948,7
1262,3
1686,4
-8-
chr2
25467529
25467612 AMPL7158937897
3575,9
1741,6
1834,4
chr2
25468005
25468134 AMPL7158937906
2069,7
1044,0
1025,7
chr2
25468125
25468231 AMPL7153001589
2760,6
1582,4
1178,2
chr2
25468742
25468864 AMPL7158937898
2735,8
1395,9
1339,9
chr2
25468816
25468903 AMPL7157676388
2480,7
1558,2
922,6
chr2
25468910
25469029 AMPL7158937919
2059,4
1059,5
999,9
chr2
25469029
25469154 AMPL7156003644
2951,2
1524,7
1426,6
chr2
25469071
25469199 AMPL7153001551
2437,8
1199,2
1238,6
chr2
198266731 198266852 AMPL7156738358
2601,8
1404,2
1197,7
chr2
198267322 198267392 AMPL7154443608
4430,8
2412,1
2018,8
chr2
198267439 198267556 AMPL7154118562
4338,2
2191,8
2146,4
chr2
209113048 209113198 IDH1_40.61228
1710,8
653,7
1057,1
chr2
209113186 209113261 IDH1_40.153995
3036,7
1485,9
1550,8
chr2
209113260 209113424 AMPLP224084251
2197,3
1126,6
1070,7
chr4
55589728
55589903 KIT_59.96210
2804,1
1283,3
1520,8
chr4
55593248
55593409 KIT_61.3143
3046,4
1538,8
1507,7
chr4
55593373
55593487 KIT_61.88689
2996,2
1398,1
1598,1
chr4
55593462
55593584 KIT_61.100773
2446,8
1284,1
1162,7
chr4
55593576
55593643 KIT_61.144661
4805,7
2612,5
2193,2
chr4
55593633
55593730 KIT_61.78879
3412,9
1752,4
1660,6
chr4
55599101
55599270 KIT_68.85890
645,2
346,1
299,1
55599257
55599378 KIT_68.48063
chr4
2614,9
1258,6
1356,3
chr4
106155076 106155239 AMPLP227055302
3172,3
1396,7
1775,6
chr4
106155236 106155375 AMPLP227094946
3897,9
2019,9
1877,9
chr4
106155372 106155536 AMPLP227127636
1442,7
687,8
754,9
chr4
106155531 106155694 AMPLP227749409
2201,9
968,3
1233,6
chr4
106155687 106155838 AMPLP227757786
1478,7
865,3
613,4
chr4
106155833 106156004 AMPLP227778163
1598,1
728,9
869,1
chr4
106156000 106156123 AMPLP227821706
4504,3
2390,9
2113,4
chr4
106156118 106156267 AMPLP227377842
1631,4
813,3
818,1
chr4
106156261 106156430 TET2_76.3.173572
1813,1
896,8
916,3
chr4
106156413 106156513 TET2_76.3.244709
6358,6
3189,6
3169,0
chr4
106156503 106156645 TET2_76.3.143324
2765,7
1502,0
1263,7
chr4
106156635 106156737 TET2_76.3.4859
5274,6
2580,7
2693,9
chr4
106156737 106156915 AMPLP227808490
2245,6
1020,7
1224,8
chr4
106156903 106157022 TET2_76.4.119764
3746,9
1966,9
1780,1
chr4
106157012 106157087 TET2_76.4.129621
3186,2
1657,1
1529,2
chr4
106157077 106157249 AMPLP227067992
2382,8
1292,6
1090,2
chr4
106157225 106157342 TET2_76.4.218517
3468,2
1951,7
1516,6
chr4
106157325 106157417 TET2_76.5.77249
3465,8
1684,2
1781,6
chr4
106157407 106157570 AMPLP227124529
2026,1
972,6
1053,6
chr4
106157567 106157734 AMPLP227763889
2277,5
1239,4
1038,1
chr4
106157730 106157861 AMPLP227777121
3405,0
1879,2
1525,8
chr4
106157856 106158027 AMPLP227797165
2744,9
1442,5
1302,4
chr4
106158023 106158189 AMPLP227016483
1617,1
813,6
803,5
chr4
106158186 106158337 AMPLP227032563
1898,6
880,8
1017,8
chr4
106158332 106158491 AMPLP227049757
1593,2
832,4
760,8
chr4
106158486 106158603 AMPLP227055656
2541,2
1349,5
1191,7
chr4
106162414 106162534 TET2_76.13.32296
3090,9
1460,7
1630,3
chr4
106162523 106162634 TET2_76.13.49883
2460,6
1263,6
1197,0
chr4
106163912 106164024 TET2_76.15.48231
2289,6
1140,3
1149,2
-9-
chr4
106164012 106164104 TET2_76.15.242256
3613,3
1964,4
1648,8
chr4
106164627 106164747 TET2_78.210683
2394,5
1152,7
1241,8
chr4
106164722 106164845 TET2_78.211094
5356,5
2862,8
2493,7
chr4
106164829 106164918 TET2_78.42427
5426,3
2671,1
2755,3
chr4
106164899 106164987 TET2_78.80424
3274,5
1214,1
2060,4
chr4
106180730 106180839 AMPLP227424363
3628,6
1721,3
1907,3
chr4
106180835 106180917 AMPLP227426844
3530,2
2013,5
1516,7
chr4
106180902 106180989 AMPLP227426946
3754,9
1552,4
2202,4
chr4
106182821 106182940 AMPLP227882495
3081,1
1430,5
1650,6
chr4
106182940 106183107 TET2_80.31660
1223,8
472,1
751,8
chr4
106190651 106190805 TET2_81.96724
1508,7
731,4
777,2
chr4
106190791 106190926 TET2_81.35474
1436,8
741,1
695,7
chr4
106193617 106193779 TET2_82.194513
2176,6
1000,1
1176,6
chr4
106193769 106193923 TET2_82.131690
2942,2
1140,2
1802,0
chr4
106193910 106194066 TET2_82.248125
2348,8
1234,7
1114,1
chr4
106194056 106194154 TET2_82.109223
2248,3
1109,3
1139,0
chr4
106196059 106196205 TET2_83.1.251757
3134,5
1580,9
1553,6
chr4
106196195 106196363 TET2_83.1.9577
1253,3
660,8
592,5
chr4
106196347 106196470 TET2_83.1.125067
535,2
300,8
234,4
chr4
106196460 106196632 AMPLP227933976
2924,1
1491,9
1432,2
chr4
106196627 106196783 AMPLP227302641
2663,7
1450,6
1213,1
chr4
106196780 106196886 AMPLP227335937
1774,0
697,7
1076,3
chr4
106196883 106197057 AMPLP227360575
1716,4
771,6
944,8
chr4
106197052 106197221 AMPLP227380868
2226,8
1159,8
1066,9
chr4
106197210 106197318 TET2_83.2.215626
3338,8
2090,7
1248,1
chr4
106197301 106197376 TET2_83.3.105437
3558,4
1388,3
2170,1
chr4
106197376 106197478 TET2_83.3.68704
5335,2
2869,2
2466,0
chr4
106197475 106197568 TET2_83.3.51865
2105,1
962,8
1142,2
chr4
106197560 106197648 TET2_83.3.124254
4352,9
2203,4
2149,4
chr4
106197638 106197718 TET2_83.3.135924
3899,3
2030,9
1868,4
chr5
170837443 170837603 NPM1_95.96219
616,1
358,7
257,4
chr7
140453083 140453172 BRAF_99.2758
4985,0
2801,1
2183,9
chr7
148504449 148504567 AMPL7158937920
3126,9
1538,7
1588,2
chr7
148504562 148504688 AMPL7154227030
2150,3
852,9
1297,4
chr7
148504640 148504758 AMPL7158937907
2658,8
1348,3
1310,6
chr7
148506136 148506261 AMPL7152996853
3285,7
1508,2
1777,6
chr7
148506389 148506498 AMPL7154234975
3034,7
1481,4
1553,3
chr7
148507401 148507520 AMPL7152996851
3593,8
1867,3
1726,4
chr7
148508618 148508736 AMPL7158937921
1104,5
535,1
569,4
chr7
148508719 148508844 AMPL7155533243
3266,9
1754,6
1512,3
chr7
148510999 148511126 AMPL7158937908
3424,1
1594,6
1829,5
chr7
148511109 148511233 AMPL7158937922
5275,9
2700,4
2575,6
chr7
148511914 148512039 AMPL7158937899
2247,8
1081,9
1165,9
chr7
148512011 148512131 AMPL7158937909
4213,4
2155,7
2057,7
chr7
148523500 148523616 AMPL7158937923
4442,8
2408,2
2034,6
chr7
148523565 148523670 AMPL7153305513
4098,5
2115,8
1982,7
chr7
148523661 148523778 AMPL7154294429
3704,8
1982,4
1722,4
chr7
148524199 148524314 AMPL7155778393
2755,7
1571,1
1184,6
chr7
148524286 148524388 AMPL7152996836
2463,8
1164,2
1299,6
chr7
148525807 148525926 AMPL7156509099
4531,8
2102,1
2429,8
chr7
148525853 148525979 AMPL7156564264
1970,6
1187,2
783,4
- 10 -
chr7
148526814 148526922 AMPL7153513655
3479,8
1809,6
1670,3
chr7
148526907 148527025 AMPL7158937910
1656,8
879,7
777,1
chr9
5069968
5070084 AMPL7153359845
993,4
531,9
461,4
chr9
5073675
5073808 AMPLP224028005
2981,3
1352,2
1629,2
chr11
32413447
32413610 WT1_140.23840
2070,6
1144,1
926,5
chr11
32413608
32413778 WT1_140.87116
1861,1
936,6
924,5
chr11
32417734
32417903 WT1_142.79080
2437,1
1210,7
1226,4
chr11
32417852
32417979 WT1_142.70263
2810,3
1522,9
1287,4
chr11
119148823 119148941 CBL_157.4145
1488,0
749,5
738,5
chr11
119148933 119149072 CBL_157.61505
2327,2
1227,2
1100,1
chr11
119149075 119149237 CBL_157.8447
2033,6
1019,2
1014,4
chr11
119149227 119149388 CBL_158.115829
2665,6
1446,8
1218,8
chr11
119149382 119149452 CBL_158.145001
5104,4
2549,8
2554,6
chr12
25380109
25380280 KRAS_169.36435
1669,5
982,4
687,1
chr12
25380265
25380366 KRAS_169.54303
4824,5
2244,1
2580,4
chr12
25398148
25398245 AMPLP223374228
3731,9
1928,8
1803,2
chr12
25398242
25398388 AMPLP223256411
1851,8
944,3
907,5
chr13
28589725
28589843 AMPLP227649709
3289,6
1624,6
1665,0
chr13
28592546
28592715 FLT3_192.75257
1518,7
772,4
746,3
chr13
28602286
28602373 FLT3_196.42584
3031,5
1479,6
1551,9
chr15
90631737
90631881 AMPLP226998375
2096,4
976,2
1120,2
chr15
90631862
90632009 IDH2_219.25916
1473,6
799,6
674,1
chr17
7572834
7572936 TP53_1.3.1810912
2064,2
884,7
1179,5
chr17
7572931
7573021 TP53_1.3.1590469
3051,6
1813,7
1237,9
chr17
7573884
7573977 TP53_2.760385
3261,7
1707,9
1553,8
chr17
7573977
7574068 TP53_2.557183
3653,8
1666,4
1987,3
chr17
7576495
7576603 TP53_3.469162
808,9
367,6
441,3
chr17
7576593
7576693 TP53_3.358320
2042,0
1037,3
1004,7
chr17
7576816
7576921 TP53_4.33198
1268,9
600,3
668,6
chr17
7576922
7577003 TP53_5.305191
2701,9
1325,9
1376,0
chr17
7576993
7577113 TP53_5.660062
3814,4
1987,6
1826,9
chr17
7577087
7577190 TP53_5.803151
4042,4
2036,1
2006,3
chr17
7577433
7577557 TP53_7.361197
1771,1
643,4
1127,7
chr17
7577528
7577645 TP53_7.148281
2189,9
979,9
1210,0
chr17
7578043
7578158 TP53_8.884088
2366,7
1150,9
1215,8
chr17
7578145
7578267 TP53_10.1.366103
2345,4
788,3
1557,1
chr17
7578254
7578370 TP53_10.210186
1614,4
822,8
791,6
chr17
7578371
7578508 TP53_10.215568
1888,8
1052,6
836,2
chr17
7578450
7578563 TP53_10.1.804509
1473,1
751,7
721,3
chr17
7578550
7578679 TP53_10.1.470
2025,0
845,6
1179,4
chr17
7579231
7579303 TP53_11.943473
4326,0
2320,8
2005,2
chr17
7579293
7579396 TP53_11.1216011
2923,4
1272,9
1650,5
chr17
7579388
7579503 TP53_11.1324631
2435,7
1122,5
1313,2
chr17
7579496
7579595 TP53_11.1195092
4309,1
2062,9
2246,2
chr17
7579698
7579769 TP53_1111
4056,9
2121,9
1935,1
chr17
7579837
7579961 TP53_12.416326
1171,7
664,5
507,2
chr17
74732889
74733028 AMPL7153080603
788,8
323,8
464,9
chr18
42531860
42531987 AMPL7155490182
3829,2
1961,4
1867,8
chr19
13054417
13054550 AMPL7158937924
1355,0
690,8
664,2
chr19
13054548
13054642 AMPL7158540209
2068,1
745,1
1323,0
chr19
13054592
13054724 AMPL7158937911
1804,9
700,7
1104,2
- 11 -
chr19
13054700
13054801 AMPL7158937925
2701,3
1304,1
1397,2
chr20
31022184
31022269 ASXL1_235.1.38282
3077,2
1772,9
1304,3
chr20
31022259
31022412 AMPLP226239163
2230,7
1178,0
1052,7
chr20
31022391
31022479 ASXL1_235.1.76662
906,7
854,9
51,8
chr20
31022442
31022576 ASXL1_235.1.102046
1024,9
488,4
536,4
chr20
31022576
31022661 ASXL1_235.1.74735
5069,6
2478,1
2591,5
chr20
31022627
31022742 ASXL1_235.1.131952
2443,3
1159,6
1283,7
chr20
31022731
31022854 ASXL1_235.2.241203
3371,3
1634,3
1737,1
chr20
31022844
31022943 ASXL1_235.2.7826
2876,2
1255,2
1621,0
chr20
31022924
31023002 ASXL1_235.2.155437
3025,8
1291,4
1734,4
chr20
31022994
31023091 ASXL1_235.2.63963
3694,7
1789,9
1904,8
chr20
31023081
31023208 ASXL1_235.2.30712
2521,3
1306,3
1214,9
chr20
31023196
31023371 AMPLP226225790
1764,9
924,8
840,1
chr20
31023366
31023528 AMPLP226260484
2504,7
1187,8
1316,9
chr20
31023491
31023601 ASXL1_235.3.75492
4561,6
1947,4
2614,1
chr20
31023591
31023670 ASXL1_235.3.37275
3091,4
1508,8
1582,7
chr20
31023664
31023845 AMPLP226238564
1407,5
763,3
644,2
chr20
31023842
31024014 AMPLP226261613
1386,9
804,1
582,8
chr20
31024007
31024115 ASXL1_235.4.1470
2546,7
1279,9
1266,8
chr20
31024092
31024180 ASXL1_235.4.88973
3611,8
1753,6
1858,2
chr20
31024169
31024347 AMPLP226263478
1207,2
616,2
590,9
chr20
31024343
31024522 AMPLP226288068
2154,2
1080,4
1073,7
chr20
31024516
31024645 ASXL1_235.5.219520
2382,8
1411,2
971,7
chr20
31024635
31024722 ASXL1_235.5.64256
2182,3
995,6
1186,7
chr20
31024687
31024813 ASXL1_235.5.124884
1848,1
1146,4
701,6
chr20
31024765
31024872 ASXL1_235.5.123077
3248,4
1557,4
1691,0
chr20
31024862
31024985 ASXL1_235.5.192251
3062,4
1574,8
1487,7
chr20
31024984
31025096 AMPLP226320766
4575,8
2403,2
2172,7
chr20
31025093
31025234 AMPLP226327346
2452,2
1244,0
1208,2
chr21
36171455
36171615 AMPLP236850648
1905,6
999,9
905,7
chr21
36171612
36171774 AMPLP236864148
2324,4
1287,2
1037,2
chr21
36171763
36171864 RUNX1_237.121313
2951,0
1386,1
1564,9
chr21
36206637
36206821 RUNX1_239.66909
967,4
500,7
466,8
chr21
36206808
36206898 RUNX1_239.73772
4087,9
2113,3
1974,6
chr21
36206888
36206963 RUNX1_239.65068
2632,1
1905,4
726,7
chr21
36231695
36231795 RUNX1_240.8585
3987,0
1754,2
2232,8
chr21
36231782
36231881 RUNX1_240.99767
4380,7
2004,4
2376,3
chr21
36231863
36231940 RUNX1_240.121721
2746,9
1404,4
1342,4
chr21
36252757
36252887 RUNX1_241.134042
2774,2
1182,0
1592,2
chr21
36252877
36253043 RUNX1_241.150240
4220,0
1862,6
2357,4
chr21
36259086
36259208 RUNX1_242.1.67447
1019,8
606,0
413,8
chr21
36259194
36259321 RUNX1_242.1.83226
1076,2
480,9
595,3
chr21
36259281
36259413 RUNX1_242.1.43471
116,9
55,8
61,1
chr21
36265199
36265285 RUNX1_243.10276
703,9
360,9
343,0
chr21
44514711
44514832 AMPL7153080599
2318,6
1322,4
996,1
chr21
44524432
44524559 AMPL7155438379
2550,8
1195,9
1354,9
- 12 -
Table S5 All 269 detected variants in 185 patient samples including diagnosis, variant allele frequency, reads and quality of the variant call. Patient No.
Initial diagnosis
Pathogenic variants Gene
Codon
Frequency Reads
Quality
2015-E 001
PMF
No pathogenic variants
2015-E 002
MPN-U
SRSF2
p.P95H
50,80%
1658
8561,3
SETBP1
p.D868N
47,00%
5030
9214,3
ASXL1
p.S847Ffs*47
44,90%
3532
3351,6
SRSF2
p.P95H
52,10%
1589
8597,4
SETBP1
p.D868N
48,60%
7092
9731,0
ASXL1
p.S847Ffs*47
44,90%
3570
3351,3
CSF3R
p.T618I
37,50%
3252
6371,7
CSF3R
p.Q766*
29,90%
6105
4464,1
SRSF2
p.P95-R102del
44,80%
1382
2279,1
SETBP1
p.D868Y
47,50%
13475
9361,7
TET2
p.Q1020*
88,70%
1594
20229,7
SRSF2
p.R94dup
37,40%
1606
5039,5
EZH2
p.C558R
12,00%
5361
863,4
ASXL1
p.G987*
19,30%
2387
2108,7
RUNX1
p.L71Sfs*24
30,30%
6267
1293,4
2015-E 003
2015-E 004 2015-E 005 2015-E 006
aCML
aCML CMML-1 RAEB-1
2015-E 007
CMML-1
No pathogenic variants
2015-E 008
PMF
SF3B1
p.K700E
36,00%
3793
6050,6
CALR
p.K385Nfs*47
37,40%
5551
6296,0
2015-001
MDS?
No pathogenic variants
2015-002
MDS?
No pathogenic variants
2015-003
MDS?
No pathogenic variants
2015-004
RAEB-1
NPM1
p.W288Cfs*12
30,60%
1904
3267,4
WT1
p.S386Rfs*62
25,10%
7987
3118,6
FLT3
p.D835V
19,60%
3101
2194,8
p.Q157P
36,10%
1821
5500,5
2015-005
MDS?
U2AF1
2015-006
MDS?
No pathogenic variants
2015-007
MDS?
No pathogenic variants
2015-008
MDS?
No pathogenic variants
2015-009 2015-010 2015-011
2015-012
MDS CMML-1
RAEB-2 in transformation
NPM1
p.W288Cfs*12
34,40%
516
1402,6
SETBP1
p.D868N
32,80%
3021
5207,3
SRSF2
p.P95-R102del
29,90%
677
427,2
KRAS
p.G13A
12,50%
248
129,4
SRSF2
p.P95H
42,80%
1187
4729,8
TET2
p.G1282del
36,00%
826
2450,5
TET2
p.R1465*
47,20%
601
2761,3
ASXL1
p.P902Hfs*6
46,50%
467
850,9
KRAS
p.Q61R
36,60%
2644
6209,0
TET2
p.R550*
49,50%
380
1874,8
U2AF1
p.R156H
36,50%
1775
5462,4
2015-013
CMML-1
No pathogenic variants
2015-014
P.vera
JAK2
p.V617F
20,40%
1473
1732,5
2015-015
CMML-1
SRSF2
p.P95H
50,10%
405
2027,0
SETBP1
p.D868N
46,60%
3572
9084,7
TET2
p.R953Kfs*19
47,40%
2978
3763,7
- 13 -
2015-016
Other
TP53
p.R175H
34,70%
1008
3092,5
2015-017
Other
TP53
p.Y234C
35,60%
1350
3983,9
2015-018
CMML-2
SRSF2
p.P95R
48,70%
669
3236,4
2015-019
aCML
ASXL1
p.Q728*
39,60%
3645
7028,1
DNMT3A
p.R882C
46,20%
3253
8974,7
2015-020
RCMD
DNMT3A
p.R736H
36,90%
1312
4101,4
2015-021
aCML
BRAF
p.L597Q
6,70%
3904
236,3
CBL
p.L380P
32,90%
1517
3832,1
SETBP1
p.D874N
45,80%
4453
8873,9
SRSF2
p.P95H
51,00%
618
3194,7
2015-022
AML
Sample failed
2015-023
PMF
No pathogenic variants
2015-024
PMF
JAK2
p.V617F
64,40%
2763
15056,8
SRSF2
p.P95-R102del
32,70%
238
187,7
TET2
p.P1115Lfs*2
67,70%
2887
7779,9
2015-025
PMF
ASXL1
p.Y591*
47,70%
1810
8496,9
2015-026
CMML-1
SRSF2
p.P95H
50,30%
315
1579,3
TET2
p.Q876Afs*25
26,00%
3349
852,4
TET2
p.C882Sfs*39
26,70%
4467
3670,6
ASXL1
p.Q692*
34,00%
3247
5517,2
EZH2
p.R659G
30,00%
3805
4503,9
CSF3R
p.R698C
53,00%
853
4712,9
TET2
p.I1116Yfs*14
40,10%
1295
1162,0
3671
9646,9 1061,8
2015-027
MDS-U
2015-028
MDS/MPN-U
2015-029
MDS?
No pathogenic variants No pathogenic
2015-030
aCML
variants
2015-031
aCML
SETBP1
p.G870S
48,40%
SRSF2
p.P95-R102del
43,50%
684
2015-032
Other
TP53
p.R273H
52,30%
2865
2015-033
PMF
JAK2
p.V617F
19,10%
2661
2088,3
RUNX1
p.T151I
21,80%
3366
2637,5
U2AF1
p.Q157P
28,00%
3353
4013,4
No pathogenic 2015-034
CMML?
variants
2015-035
RARS
FLT3
p.S873A
12,70%
1560
765,6
SF3B1
p.K700E
38,70%
1393
4722,4
2015-036
MDS
TET2
p.R1302S
17,00%
4432
1698,3
2015-037
MDS?
ASXL1
p.R693*
44,40%
2904
8380,5
SRSF2
p.P95H
54,00%
914
5192,4
TET2
p.N275Ifs*18
47,20%
2868
9123,4
TET2
p.C1271Wfs*29
45,30%
3650
3441,2
EZH2
p.L128F
42,40%
873
3470,1
EZH2
p.P132A
47,40%
887
4114,0
TP53
p.R290H
49,70%
2035
10040,8
p.R882H
7,80%
1799
310,0
2015-038
RAEB-2 in transformation
2015-039
MDS in transformation?
DNMT3A
2015-040
t-AML
No pathogenic variants
2015-041
CMML?
NRAS
p.G12V
19,50%
861
929,2
TET2
p.I1195Mfs*31
43,70%
4409
3137,2
TET2
p.Y1255*
42,90%
2914
3025,4
TET2
p.C1271W
33,90%
2583
5483,5
2015-042
MDS
- 14 -
2015-043
2nd AML
TET2
p.L476Afs*3
43,40%
1989
3076,6
TET2
p.Y1351Mfs*12
45,20%
1496
6306,7
JAK2
p.V617F
32,60%
1605
4120,4
TP53
p.R273H
79,60%
983
10403,1
2015-044
MDS?
No pathogenic variants
2015-045
MDS/MPN-U
CSF3R
p.R698C
40,00%
815
2889,5
JAK2
p.V617F
68,80%
620
5169,0
JAK2
p.V617F
19,60%
2020
2184,1
RUNX1
p.T151I
18,60%
3557
1988,2
2015-046
PMF
U2AF1
p.Q157P
29,60%
2046
4393,9
2015-047
MDS?
TET2
p.G1731Afs*14
34,50%
1279
1166,0
2015-048
MPN?
JAK2
p.V617F
17,50%
879
792,7
2015-049
CMML-1
SRSF2
p.P95R
44,30%
1119
4676,9
2015-050
RAEB-2 in transformation
NPM1
p.W288Cfs*12
22,40%
145
204,4
2015-051
MDS?
TET2
p.R544*
17,20%
3071
1762,2
TET2
p.M633Ifs*6
26,40%
2855
3631,0
TET2
p.H1382D
20,50%
1129
1343,2
TET2
p.Q1529Sfs*42
29,10%
1003
543,9
2015-052
MDS?
ASXL1
p.P808Lfs*10
32,20%
6646
1522
2015-053
MDS?
DNMT3A
p.S892Hfs*14
11,20%
2802
751,1
2015-054
MDS?
CSF3R
p.Q766*
21,60%
5977
2598,0
RUNX1
p.R139G
42,40%
2255
7834,5
2015-055
RAEB-2
CALR
p.K385Nfs*47
38,00%
3019
6542,5
2015-056
RAEB-2
DNMT3A
p.R866T
38,10%
2857
6615,2
TP53
p.E286Q
45,60%
2193
8786,8
2015-057
MDS?
No pathogenic variants
2015-058
MPN?
JAK2
p.V617F
6,70%
4992
232,2
2015-059
MPN?
JAK2
p.V617F
33,50%
2203
5390,0
TET2
p.H1881L
36,10%
4908
6045,7
TP53
p.M246V
59,10%
1384
9150,4
2015-060
MDS?
U2AF1
p.Q157P
9,80%
1931
560,9
2015-061
CMML?
TET2
p.R1404*
37,00%
998
3155,8
CBL
p.C404Y
70,10%
699
6072,6
2015-062
CMML?
KRAS
p.G12D
42,30%
1975
7731,2
2015-063
PMF
U2AF1
p.S34Y
32,80%
1686
4382,5
2015-064
Relapse controll
No pathogenic variants
2015-065
aCML
CSF3R
p.T618I
31,10%
1967
4621,1
SRSF2
p.P95R
45,70%
686
3015,9
TET2
p.C1135Y
83,20%
1484
16866,3
TP53
p.P278S
32,30%
5889
5077,7
SRSF2
p.P95H
30,50%
597
1388,9
TET2
p.N281*
19,20%
630
104,0
TET2
p.E1879D
25,20%
5580
3373,4
IDH1
p.R132H
47,80%
271
1265,6
SETBP1
p.G870S
18,80%
2568
2027,3
SRSF2
p.P95-R102del
38,10%
231
274,8
9,40%
1163
310,0
2015-066
2015-067
MDS?
RCMD
2015-068
Relapse controll
No pathogenic variants
2015-069
MPN?
No pathogenic variants
2015-070
CMML?
No pathogenic variants
2015-071
CML?
TET2
p.K623*
- 15 -
2015-072
MDS?
No pathogenic variants
2015-073
RARS
SF3B1
2015-074
MPN?
No pathogenic variants
2015-075
CMML-1
TET2
2015-076
MDS?
No pathogenic variants
2015-077
MDS
TET2
2015-078
MDS?
TP53
2015-079
RCMD
Sample failed
2015-080
MDS?
p.K666T
46,10%
2446
8927,9
15,70%
913
672,4
p.L1360Q
27,70%
1405
2752,4
p.Q52*
33,40%
1250
3326,9
TET2
p.P333Hfs*14
46,30%
3272
3554,5
SRSF2
p.P95R
43,90%
264
1069,6
42,10%
3593
7761,5
p.L1360Q
2015-081
MDS?
No pathogenic variants
2015-082
CMML
U2AF1
p.S34F
2015-083
aCML
NRAS
p.G13C
9,00%
1070
260,6
NRAS
p.G12D
35,70%
1068
3164,4
SRSF2
p.P95H
57,10%
444
2776,5
SETBP1
p.D868N
48,80%
3517
9782,6
77,20%
3869
20114,4
39,60%
12536
7017,9
2015-084
MDS?
No pathogenic variants
2015-085
2nd AML
TP53
2015-086
MDS?
No pathogenic variants
2015-087
MDS/MPN-U?
No pathogenic variants
2015-088
RARS?
SF3B1
2015-089
MPN?
No pathogenic variants
2015-090
CML
variants
2015-091
CMML?
SRSF2
p.P95-R102del
15,90%
351
31,7
IDH2
p.R140W
42,40%
4334
7845,8
CBL
p.R462*
33,90%
929
2542,6
TET2
p.L793Nfs*20
49,60%
1176
2343,6
TET2
p.1360Q
41,90%
1908
7297,5
TET2
p.C484Lfs*6
31,60%
1381
1004,9
TET2
p.E547*
45,80%
1085
4822,2
SRSF2
p.P95L
42,40%
733
2828,6
TET2
p.S842*
39,10%
1678
5757,4
RUNX1
p.T243Nfs*330
41,70%
1369
1967,0
581
3120,4
p.C229Lfs*18
p.H662Y
No pathogenic
2015-092
CMML-1
2015-093
MDS?
2015-094
MDS-U
2015-095
MDS?
No pathogenic variants
2015-096
MPN?
No pathogenic variants
2015-097
MDS
No pathogenic variants
2015-098
Other
Sample failed
2015-099
Relapse controll
No pathogenic variants
2015-100
Relapse controll
TET2
p.S385Kfs*44
52,20%
TET2
p.K982*
42,20%
566
2170,9
2015-101
MDS
TET2
p.Q886Nfs*36
41,70%
2412
7594,1
ASXL1
p.Q829Pfs*4
42,00%
3928
2878,0
RUNX1
p.R204*
42,40%
2154
7835,6
U2AF1
p.Q157P
42,40%
1357
5295,1
IDH1
p.R132C
38,80%
206
682,4
ASXL1
p.L1178*
45,40%
1442
6237,5
CBL
p.E366K
75,30%
507
4844,6
U2AF1
p.S34F
43,90%
1521
6269,9
IDH2
p.R140Q
21,30%
178
230,1
2015-102
2nd AML
2015-103
CMML-1
2015-104
RCMD
- 16 -
2015-105
CMML-1
TP53
p.S106R
15,80%
647
498,5
TET2
p.P929Lfs*24
45,10%
4608
3326,1
TET2
p.Q1009*
43,70%
2115
8207,8
SRSF2
p.P95L
41,90%
618
2356,3
2015-106
CMML?
No pathogenic variants
2015-107
2nd AML
DNMT3A
p.R882H
47,80%
3822
9490,7
NPM1
p.W288Cfs*12
38,00%
348
1148,7
EZH2
p.Q653H
63,70%
2944
14841,0
SETBP1
p.G872R
41,90%
4269
7679,4
2015-108
RAEB-2
2015-109
MDS?
DNMT3A
p.V636L
8,80%
3403
448,2
2015-110
CMML-1
TET2
p.C262Vfs*31
80,60%
2011
11703,3
2015-111
2nd AML
Sample failed
2015-112
RAEB-1
SRSF2
p.P95-R102del
46,90%
294
549,8
2015-113
aCML
NRAS
p.G12S
24,20%
4946
3162,3
NRAS
p.Q61R
19,10%
3175
2090,4
SRSF2
p.P95L
36,70%
611
1880,6
SETBP1
p.D868N
47,70%
4838
9444,8
2015-114
MDS?
No pathogenic variants
2015-115
MDS?
No pathogenic variants
2015-116
MDS?
EZH2
p.F729Lfs*11
51,80%
825
1546,2
EZH2
p.K568E
42,90%
977
3883,4
DNMT3A
p.Q846Lfs*9
25,80%
810
345,8
SF3B1
p.K700E
23,60%
4912
3030,0
TET2
p.H1904Q
TP53
p.A129T
2015-117
MDS?
9,00%
8051
473,7
47,00%
2407
9194,2
2015-118
MPNu
No pathogenic variants
2015-119
MDS/MPN mit MF1
TET2
p.R1216*
93,60%
6315
27993,9
JAK2
p.V617F
57,10%
1713
10669,6
SRSF2
p.P95L
43,00%
791
3169,5
RUNX1
p.Q158*
18,40%
9504
1951,8
TET2
p.L676Tfs*5
45,00%
1667
2836,0
TET2
p.Q866*
45,80%
6110
8874,6
2015-120
CMML?
2015-121
MDS?
No pathogenic variants
2015-122
CMML?
NRAS
p.A59T
10,20%
3185
634,8
DNMT3A
p.R882H
45,50%
4702
8768,7
TET2
p.Q1828*
46,70%
3126
9119,4
2015-123
MPN?
CALR
p.N344S
42,20%
426
1646,0
2015-124
MDS?
TET2
p.R1216*
93,50%
3726
27922,0
SRSF2
p.P95L
37,40%
612
1946,3
RUNX1
p.Q158*
18,80%
5015
2038,4
NRAS
p.G12S
68,00%
809
6600,3
SETBP1
p.G870S
42,60%
4815
7890,9
RUNX1
p.R174*
47,10%
7774
9263,0
CSF3R
p.T618I
42,00%
2793
7703,3
SRSF2
p.P95R
42,30%
794
3107,5 572,1
2015-125
RAEB-2
2015-126
aCML
2015-127
MDS?
No pathogenic variants
2015-128
MDS?
DNMT3A
p.R882H
43,00%
142
IDH1
p.R132S
45,90%
146
656,7
2015-129
MDS?
SRSF2
p.P95L
33,00%
449
1189,6
TET2
p.L1322P
39,60%
2913
7042,2
- 17 -
2015-130
MDS?
Sample failed
2015-131
MDS?
Sample failed
2015-132
MDS?
U2AF1
p.Q157P
44,40%
2451
2015-133
MDS?
TET2
p.C1396Lfs*5
30,30%
1385
909,9
EZH2
p.Y731D
64,50%
3581
15125,7
RUNX1
p.R201Q
22,10%
8741
2675,8
8451,7
2015-134
MDS?
No pathogenic variants
2015-135
MDS/MPN?
No pathogenic variants
2015-136
PMF
JAK2
p.V617F
26,90%
1285
2414,9
ASXL1
p.Y591*
39,50%
3432
2508,5
U2AF1
p.Q157P
31,10%
2399
4776,4
2015-137
MDS?
No pathogenic variants
2015-138
MDS?
Sample failed
2015-139
2ndAML
TET2
p.D1143Mfs*9
49,60%
3055
4137,1
TET2
p.H1353Tfs*10
47,30%
1711
7887,9
NPM1
p.W288Cfs*12
33,00%
302
782,9
2015-140
MDS?
No pathogenic variants
2015-141
PMF?
No pathogenic variants
2015-142
CMML?
TET2
p.C1271Wfs*29
46,90%
3288
3716,2
TET2
p.K1692*
48,40%
2605
9650,9
SRSF2
p.P95H
52,80%
1101
6047,4
p.Q157P
33,20%
3904
5313,9
2015-143
MDS?
U2AF1
2015-144
MDS?
No pathogenic variants
2015-145
MDS?
No pathogenic variants
2015-146 2015-147
CMML?
NRAS
p.G12S
47,10%
1152
5299,4
EZH2
p.Y663C
95,70%
3054
29223,7
TET2
p.Y1255*
40,70%
4822
2703,2
TET2
p.L1816*
44,30%
1533
6425,8
SRSF2
p.P95H
14,50%
671
405,1
2015-148
MDS?
EZH2
p.D192N
52,40%
4437
10923,8
2015-149
MDS/MPNu
SF3B1
p.K666R
43,60%
3943
8203,4
2015-150
CMML?
No pathogenic variants
2015-151
CMML-1
TET2
p.M508W
43,80%
1244
8214,9
TET2
p.L1667Sfs*25
48,10%
3003
9463,1
2015-152
Aplastic anemia
No pathogenic variants
2015-153
CMML-1
TET2
p.S402Hfs*25
35,60%
940
2783,9
SRSF2
p.P95L
39,70%
1092
3863,9
ASXL1
p.Q1286*
43,40%
1876
7587,0
2015-154
MDS?
No pathogenic variants
2015-155
2ndAML
JAK2
p.V617F
40,00%
2074
7144,5
IDH2
p.R140Q
35,70%
943
2808,6
SRSF2
p.P95H
39,80%
755
2646,5
TET2
p.C1378Sfs*21
49,10%
1424
6963,5
SRSF2
p.P95H
44,80%
588
2508,5
TET2
p.H1380Y
44,40%
3515
8439,1
TET2
p.Y1766*
48,60%
985
4770,2
CSF3R
p.T618I
40,20%
1420
5061,1
EZH2
p.R690H
41,70%
2490
7631,1
12,80%
1769
876,2
2015-156 2015-157 2015-158
CMML-1 CMML? aCML
2015-159
MDS?
No pathogenic variants
2015-160
MDS?
TET2
p.S825*
- 18 -
TET2
p.Q892*
49,00%
3349
9828,2
SRSF2
p.P95-R102del
36,20%
534
548,2
RUNX1
p.R107H
43,00%
733
2926,8
2015-161
MDS?
No pathogenic variants
2015-162
MDS?
TET2
p.R1214W
43,40%
2882
8116,4
TET2
p.Y1693*
40,20%
1706
6105,2
ASXL1
p.A1022Efs*2
45,30%
3474
8691,0
TET2
p.I756Yfs*57
44,40%
750
1213,0
TET2
p.R1176W
46,80%
2237
9152,2
TET2
p.V1062Sfs*6
39,60%
1293
1637,4
TET2
p.Y1245Lfs*22
45,10%
7266
8592,4
CBL
p.C396R
4,40%
2268
66,9
1548
6892,4
2015-163 2015-164
CMML? CMML-1
2015-165
MDS
No pathogenic variants
2015-166
MPNu
No pathogenic variants
2015-167
CMML?
IDH1
p.R119Q
48,00%
TET2
p.S1586*
42,90%
350
1403,9
2015-168
CMML?
TET2
p.Q557*
45,00%
1869
8015,8
TET2
p.I1859Mfs*27
24,80%
1331
492,1
SRSF2
p.P95H
14,50%
248
169,1
TET2
p.R617Sfs*19
46,40%
2499
3620,7
RUNX1
p.P274Sfs*299
33,50%
2150
1682,8
TET2
p.T665Qfs*35
47,00%
1417
2592,9
U2AF1
p.Q157R
44,10%
1732
7211,0
2015-169
CMML?
2015-170
CMML?
2015-171
CML?
No pathogenic variants
2015-172
MPN?
No pathogenic variants
2015-173
MDS/MPNu
ASXL1
p.Q588*
19,30%
358
386,1
U2AF1
p.S34F
20,70%
2086
2409,4
2015-174
MDS
SF3B1
p.R625C
40,60%
1740
6370,8
2015-175
CMML-1
TET2
p.L615Afs*23
44,30%
3147
2196,4
TET2
p.R1452*
48,60%
4434
9702,1
SRSF2
p,P95H
48,10%
1575
7485,9
p.H179R
80,30%
1240
13438,4
2015-176
MDS
TP53
2015-177
RAEB-1
No pathogenic variants
2015-178
MDS?
No pathogenic variants
2015-179
MDS?
No pathogenic variants
2015-180
MDS?
No pathogenic variants
2015-181
PMF
ASXL1
p.L726Rfs*18
19,70%
1799
299,9
JAK2
p.V617F
31,90%
1871
4624,4
U2AF1
p.E159_M160insYE
21,80%
1846
2436,1
2015-182
MDS?
No pathogenic variants
2015-183
CMML-1
TET2
p.C529*
44,80%
1193
5099,1
TET2
p.C1016Afs*7
41,30%
308
1123,6
SRSF2
p.P95L
39,70%
131
456,4
NRAS
p.G12V
27,70%
442
877,0
CBL
p.C416Y
11,80%
1140
485,1
2015-184
CMML-1
- 19 -
Table S6 Covered coding regions from the 23 genes which are included in the customized MDS/MPNPanel.
Genes
Exons
1
ASXL1
12
2
BRAF
15
3
CALR
9
4
CBL
8, 9
5
CSF3R
14, 17
6
DNMT3A
11-23
7
EZH2
5-8, 14-20
8
FLT3
14, 15, 20
9
IDH1
4
10
IDH2
4
11
JAK2
12, 14
12
KIT
8, 10, 11, 17
13
KRAS
2, 3
14
NPM1
12
15
NRAS
2, 3
16
RUNX1
3-8
17
SETBP1
4
18
SF3B1
14, 15
19
SRSF2
1
20
TET2
3-11
21
TP53
2-11
22
U2AF1
2, 6
23
WT1
7, 9
- 20 -
Table S7 Amplicon primer of the 243 amplicons of the MDS/MPN-Panel Primer
Amplicon ID
Chromosome
Start
End
Gene Exon
Forward primer
Reverse primer
2
AMPLASXL1_235.1.38282
20
31022184
31022269
ASXL1 Exon_12_1
ATCCTAGTTTTGCTTTACAGTCCCT
TATCTGGTAAGTGGGCTGACCTTTA
3
AMPLP226239163
20
31022259
31022412
ASXL1 Exon_12_2
CAGATTCAACTTTCACGTATCAAACCA
TGGTGGCCGCCTCTCTAT
1
AMPLASXL1_235.1.76662
20
31022391
31022479
ASXL1 Exon_12_3
CGTGCTCTGCAGGTCCGA
CTGCCACCTCCCTCATCG
2
AMPLASXL1_235.1.102046
20
31022442
31022576
ASXL1 Exon_12_4
GCCACCACTGCCATCGGA
GTGTTCGCTGTAGATCTGACGT
3
AMPLASXL1_235.1.74735
20
31022576
31022661
ASXL1 Exon_12_5
CGAGCACCCCTGGAAAGTG
AGGCAGGTCCTCTCTCCTAG
1
AMPLASXL1_235.1.131952
20
31022627
31022742
ASXL1 Exon_12_6
TACTGCCGCCTTATCCTCTAAATGG
GGAGTTGGGAGGCATCTCCTA
2
AMPLASXL1_235.2.241203
20
31022731
31022854
ASXL1 Exon_12_7
TACTACAGAGGGCTACAGTTGGAC
CAGTTCTAACATCCGGATGCAAC
3
AMPLASXL1_235.2.7826
20
31022844
31022943
ASXL1 Exon_12_8
AACCTCAGTAGCTGAGAGATTAGTG
ACTAGAGACAGAATGGGACCATTGT
1
AMPLASXL1_235.2.155437
20
31022924
31023002
ASXL1 Exon_12_9
CTGGGAAAGTGATGATGAGGAGCA
TCATAGTGGGATGACTGTCAAGAGC
2
AMPLASXL1_235.2.63963
20
31022994
31023091
ASXL1 Exon_12_10
AGTGGGAGATGATACATTAGAGAAAGGA
CCCTAATTCGTCATCAAATGCTCTG
3
AMPLASXL1_235.2.30712
20
31023081
31023208
ASXL1 Exon_12_11
ACCTGAATCCTCACCGACTGAT
TCATCATTCGATGGGATGGGTATC
1
AMPLP226225790
20
31023196
31023371
ASXL1 Exon_12_12
AAACCAAGGCTCTCGTTTCTAACA
CCAGAGTGAAGTAAGGCTGTCAAG
2
AMPLP226260484
20
31023366
31023528
ASXL1 Exon_12_13
TTTGACAGCTGAGGAGGGTCTA
CTCCGTGAGGTGACCTTCAA
3
AMPLASXL1_235.3.75492
20
31023491
31023601
ASXL1 Exon_12_14
ATCAACGGAGACTCTGAAGCACT
CCAATTGGGTTTCTCATCCTTGTCC
1
AMPLASXL1_235.3.37275
20
31023591
31023670
ASXL1 Exon_12_15
ACTAGAGAAGCTGCAGTGACAAAG
ACCATCCCATCTGTCCTTGTAACC
2
AMPLP226238564
20
31023664
31023845
ASXL1 Exon_12_16
CTGTCCAAGGTGAATGGTGACA
GCAAGCTACCCTGCAGCAA
3
AMPLP226261613
20
31023842
31024014
ASXL1 Exon_12_17
GGCCACTAACCCACTTGTGAT
TCCTTCAAAGCCCTTAAAGAACTGG
1
AMPLASXL1_235.4.1470
20
31024007
31024115
ASXL1 Exon_12_18
AAAACAGTGGCATGGTTGATGG
GGGACTGCCTTGCAATTCTTTTG
2
AMPLASXL1_235.4.88973
20
31024092
31024180
ASXL1 Exon_12_19
CACTGGTCTTGCCAGGATTGAG
GGAATCCATTTCTTCCAGTTTCCTAGAG
3
AMPLP226263478
20
31024169
31024347
ASXL1 Exon_12_20
ACTCCCTCCATCCAGTGACAAA
CTCTGGACCAAAGGAGATCACAT
1
AMPLP226288068
20
31024343
31024522
ASXL1 Exon_12_21
TCGAGAACACCTCGTTTCTCATC
GTTTGTGCTTGGTCCCAACTTC
2
AMPLASXL1_235.5.219520
20
31024516
31024645
ASXL1 Exon_12_22
TGCTGAGATCCCTCCAGTTTTTC
GTTCTCGGCATTTGCCTTAAGA
3
AMPLASXL1_235.5.64256
20
31024635
31024722
ASXL1 Exon_12_23
CAGCGTCAAGAATGAGAAGACTTTT
GAAGGGCAAGTCCATGACAAAGG
1
AMPLASXL1_235.5.124884
20
31024687
31024813
ASXL1 Exon_12_24
GAACAGGAAAGCTACTGGGCATA
ATAAAATGCCTGCTTGATGCTGAGT
2
AMPLASXL1_235.5.123077
20
31024765
31024872
ASXL1 Exon_12_25
CTTCTGGAAATTACCCCGAGAGC
TGGGAGAGCTAGAGGAATAATTAAAGC
3
AMPLASXL1_235.5.192251
20
31024862
31024985
ASXL1 Exon_12_26
TATGGGAAGCTTTCTAAACTCCAACT
GTGCTGCTGTCAGTGAACATTTG
pool
- 21 -
1
AMPLP226320766
20
31024984
31025096
ASXL1 Exon_12_27
GCCACAGTGCATCACTTTCCT
CACAGAGCTTTGAGGGTCCAAT
2
AMPLP226327346
20
31025093
31025234
ASXL1 Exon_12_28
GGTGCGTTCTGTCACGATGA
AGAGTGCTCCTGCCTAAAGAGT
2
AMPLBRAF_99.2758
7
140453083
140453172
BRAF Exon_15_1
AAAATAGCCTCAATTCTTACCATCCACA
ACACCTCAGATATATTTCTTCATGAAGACC
1
AMPL7158937924
19
13054417
13054550
CALR Exon 9_1
GAGGCATACGCTGAGGAGTTT
CTCTGCTCCTCGTCCTGTTT
2
AMPL7158540209
19
13054548
13054642
CALR Exon 9_2
CTGCAGGCAGCAGAGAAACAAATGAAG
CTCATCCTCCTCATCCTCATCTTTG
3
AMPL7158937911
19
13054592
13054724
CALR Exon 9_3
AGGCTTAAGGAGGAGGAAGAAGA
CTGGAGGCAGGCCTCTCTA
1
AMPL7158937925
19
13054700
13054801
CALR Exon 9_4
GGAGGAAGATGAGGAGGAAGATGT
AAAAATGAAAGTTCTCGAGTCTCACA
3
AMPLCBL_157.4145
11
119148823
119148941
CBL Exon_8_1
AACAAGTCTTCACTTTTTCTGTTAACATTT
ACAGGGCTCAATCTTTACATCCTTATC
1
AMPLCBL_157.61505
11
119148933
119149072
CBL Exon_8_2
GGCTCCACATTCCAACTATGTAAAATATGT
GCCACCCCTTGTATCAGTAAAGG
2
AMPLCBL_157.8447
11
119149075
119149237
CBL Exon_9_1
AATAACCTTGGAAAATTCGGTATTATATAGCC
AATTTCACATCGGCAGAAAGGACA
3
AMPLCBL_158.115829
11
119149227
119149388
CBL Exon_9_2
TATCTTTTGCTTCTTCTGCAGGAATCAG
AGCCAATTCCTTCATCATGAAGAGAG
1
AMPLCBL_158.145001
11
119149382
119149452
CBL Exon_9_3
TTATGATGATGATGATGATGAACGAGCT
GGCTTTAGAAGACAACTCACAATGGAT
1
AMPL7153060511
1
36931916
36932032
CSF3R Exon 17_1
CCCTCTTCTCCAGCTAGCTCA
CCAGGAGGACGACTGTGTC
2
AMPL7158937900
1
36932033
36932156
CSF3R Exon 17_2
AGTTGAGCAGTGGCCCAAA
GGCACTATCTCCGCTGTGA
3
AMPL7158937912
1
36932111
36932214
CSF3R Exon 17_3
GCCTGGAACCAGAGGTTCTCATA
CACCAGCGATCAGGTCCTTT
1
AMPL7158937892
1
36932171
36932287
CSF3R Exon 17_4
AGTGGAGTCACAGCGGAGATA
CCCACTCTGGTCCAGACCTAT
2
AMPL7156840030
1
36932227
36932354
CSF3R Exon 17_5
GCTGCCCATAAAGGACCTGAT
GTGCTGGAGGAGGATGAAAAGAA
1
AMPL7158937893
1
36932336
36932425
CSF3R Exon 17_6
TGTGAGCTTGGTGATGGGTG
CCCTTTGTGTTCCACCAGTAACA
3
AMPL7157789393
1
36932398
36932529
CSF3R Exon 17_7
CCACAGGTCTCTGAGCTGTTATG
CCACATCCTTGTGTGCAGGAT
2
AMPL7155531207
1
36933366
36933484
CSF3R Exon 14_1
CCCAGCTACTCTCAAAATCAGCATC
CAGTCTGTATCACATCCACCTCAT
3
AMPL7156840031
1
36933455
36933585
CSF3R Exon 14_2
GGTCATCAGGGTGAGGACTGTA
CAGCTTTACCATCCAGGCCTAT
2
AMPL7158937901
2
25457126
25457248
DNMT3A Exon 23_1
TGTTTGTTTGTTTAACTTTGTGTCGCTA
TCCACTATACTGACGTCTCCAACA
3
AMPL7158937913
2
25457291
25457423
DNMT3A Exon 23_2
TGGACTGGGAAACCAAATACCC
GCAGGCGTCAGAGGAGTTG
1
AMPL7157783600
2
25457365
25457485
DNMT3A Exon 23_3
GGAAGCCGTCTAACCACACA
GGCACATGGTTGGTGATCTGA
2
AMPL7158937902
2
25458376
25458481
DNMT3A Exon 22_1
CCCTAGACTCCTCTTACTTGGGA
GCCTTTCCCACCTGACTTGTTT
3
AMPL7158937914
2
25458466
25458588
DNMT3A Exon 22_2
GGAAATGCTTGATAAAACCCACTGTTC
GAGAAAGAGGACATCTTATGGTGCA
1
AMPL7153220281
2
25458501
25458627
DNMT3A Exon 22_3
TGGAAAACAAGTCAGGTGGGAAA
CAGGGCAAAGACCAGCATTTTC
2
AMPL7155490169
2
25458590
25458720
DNMT3A Exon 22_4
CCGGGTACCTTTCCATTTCAGT
GCTGGTGAATGAATTCGTGCTT
3
AMPL7158937915
2
25459690
25459779
DNMT3A Exon 21_1
CCCTGCACCGTCTCCTAAATTG
GCTCCAGCGTCTAGAACCTCT
- 22 -
1
AMPL7158937894
2
25459814
25459909
DNMT3A Exon 21_2
CTGGAGCTGACCTTGGCTAT
CCCTTCCCGCTGTTATCCAG
2
AMPL7158937903
2
25459871
25459998
DNMT3A Exon 21_3
GCTTATCATTCACAGTGGATGCCAA
AGTTATGACGTGTGTGCGTGAT
3
AMPL7153001557
2
25461879
25462002
DNMT3A Exon 20_1
GGAAAAGGAAATAAGGAACATGGCAGA
GGGTAACCTTCCCGGTATGA
1
AMPL7153001558
2
25462003
25462116
DNMT3A Exon 20_2
CAGGAGCTTTCACCAACCTGT
CGCTGTTTCATGCTCCTCCTT
2
AMPL7156813272
2
25462061
25462180
DNMT3A Exon 20_3
TGTGTGCAGCTGACACTTCTTT
TGTGGCTCCTGAGAGAGAAGTA
3
AMPL7153278697
2
25463103
25463222
DNMT3A Exon 19_1
CAGCTCCACAATGCAGATGAGA
CCCTTCTTCTGGCTCTTTGAGAA
1
AMPL7153515745
2
25463205
25463329
DNMT3A Exon 19_2
GCGAGATGTCCCTCTTGTCACTA
CCAGCTGATGGCTTTCTCTTCC
2
AMPL7153037882
2
25463307
25463433
DNMT3A Exon 19_3
GGCGGTAGAACTCAAAGAAGAGC
GGCTTCCTCCTTGGATATTTCTGC
3
AMPL7158937916
2
25463445
25463567
DNMT3A Exon 18_1
GCTGTCCCAGGGCAGAAATATC
GGCCCATTCGATCTGGTGAT
1
AMPL7157119832
2
25463513
25463608
DNMT3A Exon 18_2
GGACAGGATGGTACCTACCGTA
GGCCCATCACGTTGCCTTTA
2
AMPL7158937904
2
25463610
25463742
DNMT3A Exon 18_3
CACTCCTGGATCTGGGAGGAT
ACTTGTCCATGGTTGCAGCTA
3
AMPL7153001561
2
25464310
25464433
DNMT3A Exon 17_1
GGACAAATGGAAGATAAGGAGAAAAAGAGG
GTCCGCAGCGTCACACAGAAG
1
AMPL7158937895
2
25464434
25464527
DNMT3A Exon 17_2
CCCACAGCATGGACATACATG
AGGTGGACCGCTACATTGC
2
AMPL7157700544
2
25464518
25464602
DNMT3A Exon 17_3
ACCGTGATGGAGTCCTCACA
CCAGGGAGATGGCTCCAAGTA
3
AMPL7156003641
2
25466683
25466811
DNMT3A Exon 16_1
TTAACAGCTGTGAAGCTAACCATCAT
ACCTGTCCCAGCTGAGAAGA
1
AMPL7157676386
2
25466846
25466930
DNMT3A Exon 15_1
GGACAGGTGGGTAAACCTTTGG
AGGGTGTGTGGGTCTAGGAG
2
AMPL7153037750
2
25466882
25467014
DNMT3A Exon 15_2
AGCACAACAGGTCAGATGCA
CGACCAGGAATTTGTGAGTGCT
3
AMPL7158937917
2
25467000
25467099
DNMT3A Exon 15_3
CTCAGCCAAGGGAGCTCGAGA
CGGGCACAAGGGTACCTA
1
AMPL7158937896
2
25467052
25467137
DNMT3A Exon 15_4
CCTGGTCGTGGTTATTAGCGAAG
CCAGGCAGCCATTAAGGAAGAC
2
AMPL7153948626
2
25467135
25467265
DNMT3A Exon 14_1
CCGCACATGTAGCAGTTCCA
GTCTTTCCATTCCAGGTAGCACA
3
AMPL7153037755
2
25467243
25467372
DNMT3A Exon 14_2
CAGTGAGCAGAGGAGACTCTCA
CCTCCAGTGGTCTCCTTAGCT
1
AMPL7157700521
2
25467287
25467416
DNMT3A Exon 14_3
GGTGTGCTACCTGGAATGGAAAG
GCTCATGTGCGGAAACAACAAC
2
AMPL7158937905
2
25467390
25467493
DNMT3A Exon 14_4
CCCAGCTAAGGAGACCACTG
CTGGAGTGTGCGTACCAGT
3
AMPL7158937918
2
25467427
25467542
DNMT3A Exon 14_5
CACCTGCAGCAGTTGTTGTTT
CCCGTCCTGGTGGTTTCTG
1
AMPL7158937897
2
25467529
25467612
DNMT3A Exon 14_6
CACTCCAGAAAGCAGTTCTAGACA
GGGTCATGTCTTCAGGGCTTA
2
AMPL7158937906
2
25468005
25468134
DNMT3A Exon 13_1
CTTCCAGAGGAAGCTCTGAAGTC
CCCTCTTCGTTGGAGGAATGTG
3
AMPL7153001589
2
25468125
25468231
DNMT3A Exon 13_2
GTGGGTGTGCTCCTACCTT
AGAGGCCCTTCGGTGGTA
1
AMPL7158937898
2
25468742
25468864
DNMT3A Exon 12_1
AGCAGAATCATGGCACCAGAAA
AAGTTTGTTGCCTGGGAACTCT
2
AMPL7157676388
2
25468816
25468903
DNMT3A Exon 11_12_1
CCCTGGTCCCATGTCATTCAAA
GTACGAGGTGCGGCAGAAGT
- 23 -
3
AMPL7158937919
2
25468910
25469029
DNMT3A Exon 11_12_2
CCTCAATGTTCCGGCACTTCT
GGAGATTATTGATGAGCGCACAAGA
1
AMPL7156003644
2
25469029
25469154
DNMT3A Exon 11_1
CTCCAGAAGCAGGCCAACTAC
CCAGAAGAGAAGAATCCCTACAAAGAAG
2
AMPL7153001551
2
25469071
25469199
DNMT3A Exon 11_2
TAATCTCCTTGACCTTGGGCTTCT
TGTCAGCCTGTAACTGACCTTG
3
AMPL7158937920
7
148504449
148504567
EZH2 Exon 20_1
AGCAGTCCTGAAAGCAGTTATTGA
TGAGTTTAAAAATCAACTTTTTATTGCCTTCT
1
AMPL7154227030
7
148504562
148504688
EZH2 Exon 20_2
ATTCACTGGTACAAAACACTTTGCAG
GAAACAGCTGCCTTAGCTTCAG
2
AMPL7158937907
7
148504640
148504758
EZH2 Exon 20_3
AAATTATTCTTACAGTACTTTGCAAATTCAGAA
CCTGAAGTATGTCGGCATCGAA
3
AMPL7152996853
7
148506136
148506261
EZH2 Exon 19_1
ACAATCCAGTAGAAAAAGCCCTTAGAG
CTTCATGCTCACTGACACCAGT
1
AMPL7154234975
7
148506389
148506498
EZH2 Exon 18_1
AAAAGGGAGTTCCAATTCTCACGT
TGAAATTATTCACTGGGCTGTGCTT
2
AMPL7152996851
7
148507401
148507520
EZH2 Exon 17_1
CCACATGCAACTCAGGAACTCA
TCACCTTTATCCAAAAGAATTTTCTCCTGT
3
AMPL7158937921
7
148508618
148508736
EZH2 Exon 16_1
CTGAAAAGGCAGTTTATGGCAATTCAT
CAAAGATCCTGTGCAGAAAAATGAATTCA
1
AMPL7155533243
7
148508719
148508844
EZH2 Exon 16_2
TGAATACAGGTTATCAGTGCCTTACCT
CCAGTCCATTTTCACCCTCCTT
2
AMPL7158937908
7
148510999
148511126
EZH2 Exon 15_1
CATCTAAGGCAATCCTGACATTTGC
GTGACCCTGACCTCTGTCTTAC
3
AMPL7158937922
7
148511109
148511233
EZH2 Exon 15_2
GCAGGACACATTTTTACTGTCCCAA
TGAAGAACCTCCAAACCTCTCTCT
1
AMPL7158937899
7
148511914
148512039
EZH2 Exon 14_1
ATGAGTTTCGTCAAGTAAACAAGGGA
GCCCTTGTGTGATAGCACAAAAT
2
AMPL7158937909
7
148512011
148512131
EZH2 Exon 14_2
GCATCAAAGCAACAAATACTTACACTCT
GCCTGCATGATGTTATCTTTACTCAG
3
AMPL7158937923
7
148523500
148523616
EZH2 Exon 8_1
TTGTAATAAATGATAGCACTCTCCAAGCT
CTGTTCAGAGAGAGCAAAGCTTACA
1
AMPL7153305513
7
148523565
148523670
EZH2 Exon 8_2
TGAAAACGTACAATAATTGCACTTACGATG
GCGCACTTCCTCCTGAATGTAC
2
AMPL7154294429
7
148523661
148523778
EZH2 Exon 8_3
CTGAACAGATTTAGCATTTGGTCCATC
AACACATGGAAACCTTTTAGAAACTGTTTT
3
AMPL7155778393
7
148524199
148524314
EZH2 Exon 7_1
CGCTACATTGATTCCATTTGTAATAAACCA
CACCTCGGAAATTTCCTTCTGATAAAATT
1
AMPL7152996836
7
148524286
148524388
EZH2 Exon 7_2
CTTTAGTTCTTCTGCTGTGCCCTTA
TGAAAGATCAAAAACTTGTTTACTTCCATT
2
AMPL7156509099
7
148525807
148525926
EZH2 Exon 6_1
TGTTTTTGAAAGAAAGCTGTAATGGCTAC
GAAATTTTTGTGGAGTTGGTGAATGC
3
AMPL7156564264
7
148525853
148525979
EZH2 Exon 6_2
CCATCTCGGTGATCCTCCAGAT
CCTGTGTGTTTCTGACATTTGATGC
1
AMPL7153513655
7
148526814
148526922
EZH2 Exon 5_1
CCCTTTTTCCAAGAGAAGAAGCATATG
TTTTTCTTTTAGGTGGAAGATGAAACTGTT
2
AMPL7158937910
7
148526907
148527025
EZH2 Exon 5_2
CATCCTGATCTAAAACTTCATCTCCCATAT
TCTGGAGAACTGGGTAAAGACATGTA
3
AMPLP227649709
13
28589725
28589843
FLT3 Exon_20_1
CCAGCAGCTGCCCAACTT
CACCATCTTATCTCCTCTGGGTTTTC
1
AMPLFLT3_192.75257
13
28592546
28592715
FLT3 Exon_15_1
CACAGTGAGTGCAGTTGTTTACCA
GTCATTCTTGACAGTGTGTTCACAG
2
AMPLFLT3_196.42584
13
28602286
28602373
FLT3 Exon_14_1
CTCTTTGTCATCAAGCTACAGTCTTTTTG
GCACTCATGTCAGAACTCAAGATGAT
1
AMPLIDH1_40.153995
2
209113186
209113261
IDH1 Exon_4_1
GATATTTTTGCAGATAATGGCTTCTCTGAA
CCACTATCACTCCTGATGAGAAGAG
2
AMPLP224084251
2
209113260
209113424
IDH1 Exon_4_2
CACATTTGTTTCAACTTGAACTCCTCAA
CACTGCAGTTGTAGGTTATAACTATCCA
- 24 -
3
AMPLIDH1_40.61228
2
209113048
209113198
IDH1 Exon_4_3
ATACAAGTTGGAAATTTCTGGGCCAT
ACCAAATGGCACCATACGAAATATTCT
1
AMPLIDH2_219.25916
15
90631862
90632009
IDH2 Exon_4_1
CAATGGTGATGGGCTTGGTC
GTTGAAAGATGGCGGCTGCA
3
AMPLP226998375
15
90631737
90631881
IDH2 Exon_4_2
CACAAAGTCTGTGGCCTTGTACT
GAGCCCATCATCTGCAAAAACATC
3
AMPL7153359845
9
5069968
5070084
JAK2 Exon_12_1
TCTTCAGAACGAATGGTGTTTCTGA
AATCAAGAAAACAGATGTTGTTTTAAAAGGACA
1
AMPLP224028005
9
5073675
5073808
JAK2 Exon_14_1
TTTATGGACAACAGTCAAACAACAATTC
AACAGATGCTCTGAGAAAGGCATT
3
AMPLKIT_59.96210
4
55589728
55589903
KIT Exon_8_1
GAGGTTTTCCAGCACTCTGACATAT
ATTCAAGTGAATTGCAGTCCTTCC
1
AMPLKIT_61.3143
4
55593248
55593409
KIT Exon_10_1
AACAAGAGTACAATGTAACCAAGGTGA
ATTACGAAACCAATCAGCAAAGGAGT
2
AMPLKIT_61.88689
4
55593373
55593487
KIT Exon_10_2
GCCAAAGTTTGTGATTCCACATTTCTC
TGGAGAGAGAACAAATAAATGGTTACCTG
3
AMPLKIT_61.100773
4
55593462
55593584
KIT Exon_10_3
GTAGCTGGCATGATGTGCATTATTG
ACCTTCCACTGTACTTCATACATGGG
1
AMPLKIT_61.144661
4
55593576
55593643
KIT Exon_11_1
TTAAAAGGTGATCTATTTTTCCCTTTCTCC
TCATAAGGAAGTTGTGTTGGGTCTATG
2
AMPLKIT_61.78879
4
55593633
55593730
KIT Exon_11_2
GAAGGTTGTTGAGGAGATAAATGGAAAC
TGTGTACCCAAAAAGGTGACATGG
3
AMPLKIT_68.85890
4
55599101
55599270
KIT Exon_17_1
TCAAGGCGTACTTTTGATTTTTATTTTTGG
TGTGATCCGACCATGAGTAAGG
1
AMPLKIT_68.48063
4
55599257
55599378
KIT Exon_17_2
CTAATAGTGTATTCACAGAGACTTGGCA
AAACTAAAAATCCTTTGCAGGACTGTCA
2
AMPLKRAS_169.36435
12
25380109
25380280
KRAS Exon_3_1
ATGCATGGCATTAGCAAAGACTCA
TCTCTTGGATATTCTCGACACAGCA
3
AMPLKRAS_169.54303
12
25380265
25380366
KRAS Exon_3_2
CATGTACTGGTCCCTCATTGCAC
AGTAAAAGGTGCACTGTAATAATCCAGA
1
AMPLP223374228
12
25398148
25398245
KRAS Exon_2_1
TAAGTACTCATGAAAATGGTCAGAGAAAC
AGTGCCTTGACGATACAGCTAATTC
2
AMPLP223256411
12
25398242
25398388
KRAS Exon_2_2
TGTTGGATCATATTCGTCCACAAAATGA
AGGTACTGGTGGAGTATTTGATAGTGT
1
AMPL7153170343
1
43814948
43815078
MPL Exon_10_1
TCTCCTAGCCTGGATCTCCTTG
AGAATGCCTGTTTACAGGCCTT
1
AMPLNPM1_95.96219
5
170837443
170837603
NPM1 Exon_12_1
GTTAACTCTCTGGTGGTAGAATGAAAAATAGA
GATATCAACTGTTACAGAAATGAAATAAGACG
2
AMPLNRAS_5.197421
1
115256351
115256498
NRAS Exon_3_1
TTAAAAAGCTCTATCTTCCCTAGTGTGG
AGTACAGTGCCATGAGAGACCAATA
3
AMPLNRAS_5.7942
1
115256488
115256624
NRAS Exon_3_2
AAATACACAGAGGAAGCCTTCGC
TAATAAAAATTGAACTTCCCTCCCTCCCT
1
AMPLP223653945
1
115258638
115258815
NRAS Exon_2_1
AGATGATCCGACAAGTGAGAGACA
GGCTCGCCAATTAACCCTGA
3
AMPLP236850648
21
36171455
36171615
RUNX1 Exon_8_1
TCTTATGTATCCAAGAAAATCAGTGCAT
ATGACAACCCTCTCTGCAGAAC
1
AMPLP236864148
21
36171612
36171774
RUNX1 Exon_8_2
GTGGCTTACTTGAGAGTCGACTG
CCACCCCACTTTACATATAATTGACCTT
2
AMPLRUNX1_237.121313
21
36171763
36171864
RUNX1 Exon_8_3
GATGGTTGGATCTGCCTTGTATCTG
ATTAAACCCTGGTACATAGGCCACATA
3
AMPLRUNX1_239.66909
21
36206637
36206821
RUNX1 Exon_7_1
GGTCTGGGAAGGTGTGTGCA
GGCTCAGTGAACTGGAGCAG
1
AMPLRUNX1_239.73772
21
36206808
36206898
RUNX1 Exon_7_2
GTGTGGGCTGACCCTCATG
CTCCCTGCTCCCCACAATAG
2
AMPLRUNX1_239.65068
21
36206888
36206963
RUNX1 Exon_7_3
GGGCTTGGTCTGATCATCTAGTTT
CCCCAGTTTTAGGAAATCCACAATACTT
3
AMPLRUNX1_240.8585
21
36231695
36231795
RUNX1 Exon 6_1
AAGGTTGAACCCAAGGAATCTGAG
CTACCACAGAGCCATCAAAATCACA
- 25 -
1
AMPLRUNX1_240.99767
21
36231782
36231881
RUNX1 Exon 6_2
GGATGCACTTACTTCGAGGTTCT
CATTCTGTTTTGTTCTCTATCGTGTCC
2
AMPLRUNX1_240.121721
21
36231863
36231940
RUNX1 Exon 6_3
GTTTGTGAAGACAGTGATGGTCAGA
GGCTGGACAGCATAAATTAATGATTGG
3
AMPLRUNX1_241.134042
21
36252757
36252887
RUNX1 Exon_5_1
TAGCAATAAGAATGTTAAGACAGACCGA
CATGAAGAACCAGGTTGCAAGATTT
1
AMPLRUNX1_241.150240
21
36252877
36253043
RUNX1 Exon_5_2
TCTTCCACTTCGACCGACAAAC
GCCCTAAAAGTGTATGTATAACATCCCT
2
AMPLRUNX1_242.1.67447
21
36259086
36259208
RUNX1 Exon_5_3
GCTGCCCTCGCGGATCTC
CTGGTGCGCACCGACAGC
3
AMPLRUNX1_242.1.83226
21
36259194
36259321
RUNX1 Exon_4_1
GTGCGTAGGCAGCACGGA
AGATGAGCGAGGCGTTGC
1
AMPLRUNX1_242.1.43471
21
36259281
36259413
RUNX1 Exon_4_2
CGGTCGCCGCTCCTCAG
GGTCCTAACTCAATCGGCTTGT
2
AMPLRUNX1_243.10276
21
36265199
36265285
RUNX1 Exon_3_1
ACACATCTATGAAGGTGTGTACTTTATTTAAAA
GGGAAAGTTAATTTTTAAACTTGCATTACTTTT
3
AMPL7155490182
18
42531860
42531987
SETBP1 Exon_4_1
GAGATTGGCTCCCTAAAGGAAATCA
GGTTGTCCAGGGAGCAGAAATC
2
AMPL7154118562
2
198267439
198267556
SF3B1 Exon 14_1
TTTTAAGAAGGGCAATAAAGAAGGAATGC
ACTCATGACTGTCCTTTCTTTGTTTACA
1
AMPL7154443608
2
198267322
198267392
SF3B1 Exon 14_2
TTCAACTAAACTTCTAAGATGTGGCAAGA
TCTTAAAAGCTGTGTGCAAAAGCAA
3
AMPL7156738358
2
198266731
198266852
SF3B1 Exon 15_1
CTTTCCTCTGTGTTGGCGGATA
GTTAAAACCTGTGTTTGGTTTTGTAGGT
2
AMPL7153080603
17
74732889
74733028
SRSF2 Exon_1_1
CCCGTTTACCTGCGGCT
CGACGCTGAGGACGCTA
2
AMPLP227055302
4
106155076
106155239
TET2 Exon_3_1
GAATTCAACTAGAGGGCAGCCTT
GCCACTTGGTGTCTCCATTTACT
3
AMPLP227094946
4
106155236
106155375
TET2 Exon_3_2
CACTGCCTGAGAGAGCTCATC
GGTTCACTAACTGTGCGTTTTATTCC
1
AMPLP227127636
4
106155372
106155536
TET2 Exon_3_3
GAGGGTATTCCAAGTGTTTGCAAAA
GGCTACAGAACTCACAGATTCTTTCTTA
2
AMPLP227749409
4
106155531
106155694
TET2 Exon_3_4
CAGTCAACCAAATGTCTCCGATTT
GCATTAGCACTGCCTTGTTTTTAAGTA
3
AMPLP227757786
4
106155687
106155838
TET2 Exon_3_5
GGAAAAGTGCTAATTACCATGACAAGAA
CCTGACTGTTAATGGCATTTATGTGAG
1
AMPLP227778163
4
106155833
106156004
TET2 Exon_3_6
GTTTCCATTGCGGTGCAGAAAA
CATTGCAGCTAGTTTACTGGCATTA
2
AMPLP227821706
4
106156000
106156123
TET2 Exon_3_7
GAGGCCTGTGATGCTGATGAT
CAGACGCTAGCTTTGTGGTTC
3
AMPLP227377842
4
106156118
106156267
TET2 Exon_3_8
GCCCATCTCCTGCAGAAAATAACA
TGTGGTAGTGGCAGAAAAGGAAT
1
AMPLTET2_76.3.173572
4
106156261
106156430
TET2 Exon_3_9
CTTACTTCAAGCAAAGCTCAGTGTTC
ACCCTCTATTTTCACTTCCCTTAAAAGT
2
AMPLTET2_76.3.244709
4
106156413
106156513
TET2 Exon_3_10
GTTTTAGAAGAACACCACCACTACCC
CCTTTCAGAAAGCATCGGAGAAG
3
AMPLTET2_76.3.143324
4
106156503
106156645
TET2 Exon_3_11
CCCAGAGTCCTAATCCATCTACACA
CTCCACTGCTACCAAAAATTGGTG
1
AMPLTET2_76.3.4859
4
106156635
106156737
TET2 Exon_3_12
AAACAAGACCAATGTCAGAACACCT
GCACAAGATCTCGTGTTTGCTC
2
AMPLP227808490
4
106156737
106156915
TET2 Exon_3_13
AGAGATTCTGAAGGGTCGAGACAA
CCAGGCATGTTGGAATTTCCAG
3
AMPLTET2_76.4.119764
4
106156903
106157022
TET2 Exon_3_14
CAACCCAATCTCTCCAATCAAATGACC
GTCCACTGTACCTTGGGACTG
1
AMPLTET2_76.4.129621
4
106157012
106157087
TET2 Exon_3_15
CACAAGTCACAAATGTACCAAGTTGAAA
TGAGCTTTTGGTAAATGGTCTGTTTTG
2
AMPLP227067992
4
106157077
106157249
TET2 Exon_3_16
GTTCCAAAAACCCTCACACCAG
TGTTTATGAGGCTTATGTTGCAAAAGG
- 26 -
3
AMPLTET2_76.4.218517
4
106157225
106157342
TET2 Exon_3_17
GCACTTGAATCAACAGGCTTCAG
GTCTGGAGTATTTCCTCTTTATTCTTTATTTGT
1
AMPLTET2_76.5.77249
4
106157325
106157417
TET2 Exon_3_18
AGAGTTCACATCTCCCTCAAAACCA
CCACTTTAGTCTGGCCAAAGAATGAT
2
AMPLP227124529
4
106157407
106157570
TET2 Exon_3_19
CCCCCAAAGCAACAATGATCAG
AAACCTGTATTTTGCATGCACTTGAT
3
AMPLP227763889
4
106157567
106157734
TET2 Exon_3_20
CGTAGAAATTCCCCTTATAGTCAGACCA
CTGTTCTTGAAAGCACCTGTGAA
1
AMPLP227777121
4
106157730
106157861
TET2 Exon_3_21
TCCAAATAATGTGATCCCAAAGCAAGA
ACAGGAAAAACATTTGCATGGTTATGT
2
AMPLP227797165
4
106157856
106158027
TET2 Exon_3_22
GCAACTTGCTCAGCAAAGGTA
CACCTTAATTGGCCTGTGCAT
3
AMPLP227016483
4
106158023
106158189
TET2 Exon_3_23
ACCCCAAACTGAGTCTTGCCATA
GGCGTGAAACTGCTTCAGATG
1
AMPLP227032563
4
106158186
106158337
TET2 Exon_3_24
AAAAGAGCATCATTGAGACCATGGA
CTGAAGAAGTTGTTTGCTGCTCTAAAG
2
AMPLP227049757
4
106158332
106158491
TET2 Exon_3_25
GCTGCAGAACTTGATAGCCACA
GCACTTACCTACACATCTGCAAGAT
3
AMPLP227055656
4
106158486
106158603
TET2 Exon_3_26
TGGATACACCTGTCAAGACTCAATATGA
CCTTTACAAATTGCTGCCAGACT
1
AMPLTET2_76.13.32296
4
106162414
106162534
TET2 Exon_4_1
AGTCACTTTTAGAGCCCTTAATGTGTAG
CCACATTAGGACCTGCTCCTAGAT
2
AMPLTET2_76.13.49883
4
106162523
106162634
TET2 Exon_4_2
CAGAGCAAATTATTGAAAAAGATGAAGGTC
GTGAAGGCTGGAAAAATTCTGACAT
3
AMPLTET2_76.15.48231
4
106163912
106164024
TET2 Exon_5_1
AGGATGTGGTCATAGAATAAAGTTATGCT
TGCCTTCTTTACCAGTATAGATGACTCT
1
AMPLTET2_76.15.242256
4
106164012
106164104
TET2 Exon_5_2
TTAAGGTTTGGACAGAAGGGTAAAGC
AAATGCCCAAGATTTAAGACCAAAGG
2
AMPLTET2_78.210683
4
106164627
106164747
TET2 Exon_6_1
TGTTGCCCTAATTGTGATCTAAACATGA
CACCAAACACAGTAGCTTCTCTTC
3
AMPLTET2_78.211094
4
106164722
106164845
TET2 Exon_6_2
TGTTTGGGATGGAATGGTGATCCA
GAGTAGAGTTTGTCAGCCAGAGAC
1
AMPLTET2_78.42427
4
106164829
106164918
TET2 Exon_6_3
AGTGATTGTGATTCTCATCCTGGTG
TTCACTTACTCTTCATTCAAGGCACA
2
AMPLTET2_78.80424
4
106164899
106164987
TET2 Exon_6_4
CCGAGACGCTGAGGAAATACG
AACTCTCTTCCTTTCAACCAAAGATTG
3
AMPLP227424363
4
106180730
106180839
TET2 Exon_7_1
CCTATAATATCAGCTGCACAGCCT
CATCCATTGTAGTACATGCTCCATGA
1
AMPLP227426844
4
106180835
106180917
TET2 Exon_7_2
TGTGGTGCCTCCTTCTCTTTTG
CATCAGGAAGTAAACAAACCTCTTTTGG
2
AMPLP227426946
4
106180902
106180989
TET2 Exon_7_3
AGAAGCAAGATCCCAAGGAAGTTTAA
GAGCTTACCAAGATATGTCATATTGTTCACT
3
AMPLP227882495
4
106182821
106182940
TET2 Exon_8_1
AAGGCACCATATATTGTGTTTGGGA
TGCCATAAGAGTGGACAGGTTTT
1
AMPLTET2_80.31660
4
106182940
106183107
TET2 Exon_8_2
CAGGAAGAGAAACTGGAGTCTCATTTG
CAGTGGTTTCAACAATTAAGAGGAAAAGTT
2
AMPLTET2_81.96724
4
106190651
106190805
TET2 Exon_9_1
TTTGTGTCATTCCATTTTGTTTCTGGAT
GAATGGACGGCCTTCCTTCAG
3
AMPLTET2_81.35474
4
106190791
106190926
TET2 Exon_9_2
CAGATTGAATATGAACACAGAGCACCA
TGAGAACAGACTCAACAGCTGCTA
1
AMPLTET2_82.194513
4
106193617
106193779
TET2 Exon_10_1
TATATGTCACTGATCTGGATCAACTAGG
TTTGTATAAAGGCAGAACGTGAAGC
2
AMPLTET2_82.131690
4
106193769
106193923
TET2 Exon_10_2
GACAATCGAGAATTTGGAGGAAAACCT
TCTAGTTTCCTTTGTCGGCAAGTC
3
AMPLTET2_82.248125
4
106193910
106194066
TET2 Exon_10_3
TTTTCGGCGAAAAGTCAGGATGTTA
TGCTTTACATTAAATTTACCTGCCAACT
1
AMPLTET2_82.109223
4
106194056
106194154
TET2 Exon_10_4
CGTACAAAACAAACTGAAAACGCAAG
GTGTACCCCAGAACTTACAAGTTGAT
- 27 -
2
AMPLTET2_83.1.251757
4
106196059
106196205
TET2 Exon_11_1
TGTGCTGGACAATGATCAGAACC
CTGGTCCTGAAAGTCGCAAAAGT
3
AMPLTET2_83.1.9577
4
106196195
106196363
TET2 Exon_11_2
AAGATACCTGTTTCTGTTCTCTCTTACC
GGCCGTCTCATGTATGGATTGG
1
AMPLTET2_83.1.125067
4
106196347
106196470
TET2 Exon_11_3
CCTCAGACAGAGTCTGTCAACTCTTA
TTCAAATATGAACCTGCAGCTTGAGA
2
AMPLP227933976
4
106196460
106196632
TET2 Exon_11_4
GCACCAGCCCTATGAACTTCT
TGGCTTGGATACCTATACAGATCCAT
3
AMPLP227302641
4
106196627
106196783
TET2 Exon_11_5
GGGTTCCTATTCTCCCCAGTCT
ATTTGGTCTAATGGTACAACTGCTGA
1
AMPLP227335937
4
106196780
106196886
TET2 Exon_11_6
TGGAAACCAAAATATGCAGGGAGAT
GGATTGCTCAGATTGGGTGGT
2
AMPLP227360575
4
106196883
106197057
TET2 Exon_11_7
ACTTCATGGGAGCCACCTCTA
GGTTAAGAGCTGGAAGCATCTTTGAT
3
AMPLP227380868
4
106197052
106197221
TET2 Exon_11_8
ACATGCTTTCCCACACAGCTAA
CAATGTCAGGATCCAGAAAGCTCT
1
AMPLTET2_83.2.215626
4
106197210
106197318
TET2 Exon_11_9
GAGGACAACGATGAGGTCTGGT
TGATTCCTATTGGGATTCTTTAAAGGG
2
AMPLTET2_83.3.105437
4
106197301
106197376
TET2 Exon_11_10
CAATTCTCATTGAGTGTGCAAAGCG
TGTTTTGGCTCATTCATGCTCTTATG
3
AMPLTET2_83.3.68704
4
106197376
106197478
TET2 Exon_11_11
AGGATCTCCCTCGTCTTTTACCA
ATGGGATTTCTGAGGCACATAGTC
1
AMPLTET2_83.3.51865
4
106197475
106197568
TET2 Exon_11_12
AGAAAGAGGAAGAGTGTGAAAAGTATGG
GTCCTTTCGGCAAGAGACTTGAT
2
AMPLTET2_83.3.124254
4
106197560
106197648
TET2 Exon_11_13
CATGAAACTTCAGAGCCCACTTAC
TCATATATATCTGTTGTAAGGCCCTGTG
3
AMPLTET2_83.3.135924
4
106197638
106197718
TET2 Exon_11_14
CCACAGTAACTACATCTCCATATGCC
TGAGAACTATACTACTGACAGGTTGGT
2
AMPLTP53_1.3.1810912
17
7572834
7572936
TP53 Exon_11_1
GTGCTTCTGACGCACACCTATTG
CATGTTCAAGACAGAAGGGCCTGA
3
AMPLTP53_1.3.1590469
17
7572931
7573021
TP53 Exon_11_2
GGGAACAAGAAGTGGAGAATGTCAG
ATGTGATGTCATCTCTCCTCCCTGCTT
1
AMPLTP53_2.760385
17
7573884
7573977
TP53 Exon_10_1
GGAATCCTATGGCTTTCCAACCTAG
AGAGCTGAATGAGGCCTTGGAACT
2
AMPLTP53_2.557183
17
7573977
7574068
TP53 Exon_10_2
CTTCCCAGCCTGGGCATCCTT
AACCATCTTTTAACTCAGGTACTGTGT
3
AMPLTP53_3.469162
17
7576495
7576603
TP53 Exon_9_1
CAGGCTAGGCTAAGCTATGATGTTCCTTAGA
TTGTTAAAGAGAGCATGAAAATGGTTCT
1
AMPLTP53_3.358320
17
7576593
7576693
TP53 Exon_9_2
ATCGTAAGTCAAGTAGCATCTGTATCA
GCTCCTGGTTGTAGCTAACTAACTTC
2
AMPLTP53_4.33198
17
7576816
7576921
TP53 Exon_8_1
AAAACGGCATTTTGAGTGTTAGACTGGA
TTTCCTTGCCTCTTTCCTAGCACTG
3
AMPLTP53_5.305191
17
7576922
7577003
TP53 Exon_7_1
AGAGGAGCTGGTGTTGTTGGG
CTAAGCGAGGTAAGCAAGCAGGAC
1
AMPLTP53_5.660062
17
7576993
7577113
TP53 Exon_7_2
CATAACTGCACCCTTGGTCTCCTC
AACAGCTTTGAGGTGCGTGTTTG
2
AMPLTP53_5.803151
17
7577087
7577190
TP53 Exon_7_3
CCTTTCTTGCGGAGATTCTCTTCCTCT
GGACAGGTAGGACCTGATTTCCTT
3
AMPLTP53_7.361197
17
7577433
7577557
TP53 Exon_6_1
GAAATCGGTAAGAGGTGGGCCCAG
CCACTACAACTACATGTGTAACAGTTCC
1
AMPLTP53_7.148281
17
7577528
7577645
TP53 Exon_6_2
AGTCTTCCAGTGTGATGATGGTGAG
CTTGCCACAGGTCTCCCCAAGG
2
AMPLTP53_8.884088
17
7578043
7578158
TP53 Exon_5_1
TTCAACTGTGCAATAGTTAAACCCAT
CTGAGGTCTGGTTTGCAACTGGG
3
AMPLTP53_10.1.366103
17
7578145
7578267
TP53 Exon_5_2
CCACTGACAACCACCCTTAACCC
TCTGGCCCCTCCTCAGCATCT
1
AMPLTP53_10.210186
17
7578254
7578370
TP53 Exon_5_3
TCATCCAAATACTCCACACGCAAATTTC
CGCTGCTCAGATAGCGATG
- 28 -
2
AMPLTP53_10.215568
17
7578371
7578508
TP53 Exon_4_1
TCCAGCCCCAGCTGCTCAC
TTGCCAACTGGCCAAGACCT
3
AMPLTP53_10.1.804509
17
7578450
7578563
TP53 Exon_4_2
GTGCTGTGACTGCTTGTAGATGGC
CCTGACTTTCAACTCTGTCTCCTTCCTC
1
AMPLTP53_10.1.470
17
7578550
7578679
TP53 Exon_4_3
AAAACATCTTGTTGAGGGCAGGG
CTGAGGTGTAGACGCCAACTCTC
2
AMPLTP53_11.943473
17
7579231
7579303
TP53 Exon_3_1
GAAGCCAAAGGGTGAAGAGGAATCCC
AAGTCTGTGACTTGCACGGTCAGTTG
3
AMPLTP53_11.1216011
17
7579293
7579396
TP53 Exon_3_2
GGCATTGAAGTCTCATGGAAGCCA
TCCTGGCCCCTGTCATCTTCTGT
1
AMPLTP53_11.1324631
17
7579388
7579503
TP53 Exon_3_3
GTAGCTGCCCTGGTAGGTTTTC
CACTGAAGACCCAGGTCCAGAT
2
AMPLTP53_11.1195092
17
7579496
7579595
TP53 Exon_3_4
GGAGCAGCCTCTGGCATTCTG
TCTGACTGCTCTTTTCACCCATC
3
AMPLTP53_1111
17
7579698
7579769
TP53 Exon_3_5
CCCCAGTCCAACCCTTGTCCTT
AGCCCCCTAGCAGAGACCTG
1
AMPLTP53_12.416326
17
7579837
7579961
TP53 Exon_2_1
CTGCCCTTCCAATGGATCCACTC
AGGGTTGGAAGTGTCTCATGCTGGA
1
AMPL7155438379
21
44524432
44524559
U2AF1 Exon_2_1
AAAAAGGCAAACAAACCTGGCTA
CATGCTGCTGACATATTCCATGTG
3
AMPL7153080599
21
44514711
44514832
U2AF1 Exon_6_1
TGGAAGGAGACATTTACTACCTCGT
CTTGAATAACCGTTGGTTTAATGGACAG
2
AMPLWT1_140.23840
11
32413447
32413610
WT1 Exon_9_1
ACTTTTACACTAGTCTTTTCCAATCCCT
GGCTAGACCTTCTCTGTCCATTTAG
3
AMPLWT1_140.87116
11
32413608
32413778
WT1 Exon_9_2
GACAAGTTTTACACTGGAATGGTTTCA
CCTTGAAGATTACTGTGCAGAATCAGT
1
AMPLWT1_142.79080
11
32417734
32417903
WT1 Exon_7_1
CCTGGAAATAACCTGGGTCCTTAG
ACTCTTGTACGGTCGGCATC
2
AMPLWT1_142.70263
11
32417852
32417979
WT1 Exon_7_2
CATCTGTAAGTGGGACAGCTTAAAATATCT
TGTTCACATGTGGCTTAAAGCCT
- 29 -
