At a glance

This report contains visualisations of statistics that can help in understanding the results from the wf-human-variation workflow. Each section contains different plots or tables, and in general the results are broken down by sample. You can quickly jump to an individual section with the links in the header bar. Please note, as a BED file has been provided, the statistics will correspond to the regions defined in that file.

Sample total reads

880653

Sample read N50

7661 bp

Sample mean coverage

57.014x

Summary

Metric Value Percentage
Reads 880,653
100.0%
Unmapped reads 673,692
76.5%
Bases 1,805,996,593
100.0%

Read statistics

This section displays the read statistics for the sample processed. A description of each plot is as follows:

Read quality: read quality (range cropped to 4-30) vs. the number of reads.
Read length: read length vs. the number of reads.
Base yield above read length: base yield above a given read length.
Accuracy: mapping accuracy (ranging from 0-100%) vs. the number of reads.
Coverage: coverage (proportion of read spanned by alignment) vs. the number of reads.

Depth of coverage

This section illustrates the depth of coverage of the reference genomes. The plot shows coverage vs. genomic position (note that the coordinates on the x-axis are the positions along the concatenated reference including all reference sequences in the respective reference file).

Coverage summary

The table below summarises sequence coverage information for genomic regions defined by the BED files provided to the workflow.

Region Bases covered ≥20X (%) Bases covered ≥30X (%) Average coverage Chromosome Start position End position Length
KIF1B_ENST00000676179_ENSE00003903767_1 100.0 100.0 71.91 chr1 10210569 10210878 309
KIF1B_ENST00000676179_ENSE00001263032_2 100.0 100.0 56.1 chr1 10232249 10232434 185
KIF1B_ENST00000676179_ENSE00001362535_3 100.0 100.0 42.99 chr1 10256246 10256323 77
KIF1B_ENST00000676179_ENSE00000741117_4 100.0 100.0 58.98 chr1 10258492 10258672 180
KIF1B_ENST00000676179_ENSE00001362525_5 100.0 100.0 60.68 chr1 10261904 10261970 66
KIF1B_ENST00000676179_ENSE00001362523_6 100.0 100.0 57.01 chr1 10267379 10267558 179
KIF1B_ENST00000676179_ENSE00001262563_7 100.0 100.0 56.02 chr1 10268151 10268263 112
KIF1B_ENST00000676179_ENSE00001362517_8 100.0 100.0 54.37 chr1 10271501 10271579 78
KIF1B_ENST00000676179_ENSE00001362516_9 100.0 100.0 55.67 chr1 10272240 10272306 66
KIF1B_ENST00000676179_ENSE00001671750_10 100.0 100.0 54.0 chr1 10273013 10273031 18
KIF1B_ENST00000676179_ENSE00000740694_11 100.0 100.0 52.68 chr1 10275427 10275503 76
KIF1B_ENST00000676179_ENSE00001631513_12 100.0 100.0 51.58 chr1 10276320 10276399 79
KIF1B_ENST00000676179_ENSE00001362508_13 100.0 100.0 57.48 chr1 10277985 10278128 143
KIF1B_ENST00000676179_ENSE00000869740_14 100.0 100.0 51.69 chr1 10279096 10279138 42
KIF1B_ENST00000676179_ENSE00000955628_15 100.0 100.0 51.54 chr1 10282321 10282533 212
KIF1B_ENST00000676179_ENSE00003580537_16 100.0 100.0 60.18 chr1 10291081 10291161 80
KIF1B_ENST00000676179_ENSE00001642987_17 100.0 100.0 67.55 chr1 10292046 10292122 76
KIF1B_ENST00000676179_ENSE00001711594_18 100.0 100.0 54.62 chr1 10295085 10295165 80
KIF1B_ENST00000676179_ENSE00001148985_19 100.0 100.0 55.83 chr1 10295659 10295766 107
KIF1B_ENST00000676179_ENSE00001148977_20 100.0 100.0 56.21 chr1 10296581 10296665 84
KIF1B_ENST00000676179_ENSE00001148969_21 100.0 100.0 57.68 chr1 10296896 10297077 181
KIF1B_ENST00000676179_ENSE00001148960_22 100.0 100.0 59.84 chr1 10297173 10297246 73
KIF1B_ENST00000676179_ENSE00000740957_23 100.0 100.0 52.35 chr1 10320042 10320136 94
KIF1B_ENST00000676179_ENSE00001148945_24 100.0 100.0 54.05 chr1 10321708 10321857 149
KIF1B_ENST00000676179_ENSE00000869736_25 100.0 100.0 53.37 chr1 10323883 10324062 179
KIF1B_ENST00000676179_ENSE00001148930_26 100.0 100.0 56.48 chr1 10324757 10324895 138
KIF1B_ENST00000676179_ENSE00001148923_27 100.0 100.0 55.82 chr1 10326110 10326359 249
KIF1B_ENST00000676179_ENSE00001148914_28 100.0 100.0 51.58 chr1 10334519 10334638 119
KIF1B_ENST00000676179_ENSE00001148908_29 100.0 100.0 55.9 chr1 10336656 10336742 86
KIF1B_ENST00000676179_ENSE00001049426_30 100.0 100.0 54.18 chr1 10337073 10337203 130
KIF1B_ENST00000676179_ENSE00001148894_31 100.0 100.0 58.88 chr1 10337370 10337533 163
KIF1B_ENST00000676179_ENSE00001148888_32 100.0 100.0 65.23 chr1 10339768 10339859 91
KIF1B_ENST00000676179_ENSE00001049427_33 100.0 100.0 74.36 chr1 10342049 10342168 119
KIF1B_ENST00000676179_ENSE00001148872_34 100.0 100.0 67.75 chr1 10343231 10343287 56
KIF1B_ENST00000676179_ENSE00003518414_35 100.0 100.0 51.16 chr1 10345844 10345953 109
KIF1B_ENST00000676179_ENSE00003617785_36 100.0 100.0 52.46 chr1 10347760 10347827 67
KIF1B_ENST00000676179_ENSE00003651030_37 100.0 100.0 51.68 chr1 10348648 10348733 85
KIF1B_ENST00000676179_ENSE00003669423_38 100.0 100.0 60.56 chr1 10352630 10352736 106
KIF1B_ENST00000676179_ENSE00003530256_39 100.0 100.0 62.51 chr1 10360928 10361043 115
KIF1B_ENST00000676179_ENSE00003638533_40 100.0 100.0 55.91 chr1 10361691 10361825 134
KIF1B_ENST00000676179_ENSE00000359247_41 100.0 100.0 54.92 chr1 10363282 10363344 62
KIF1B_ENST00000676179_ENSE00000869759_42 100.0 100.0 61.42 chr1 10365099 10365245 146
KIF1B_ENST00000676179_ENSE00000740292_43 100.0 100.0 58.19 chr1 10365408 10365648 240
KIF1B_ENST00000676179_ENSE00000869761_44 100.0 100.0 61.86 chr1 10368466 10368538 72
KIF1B_ENST00000676179_ENSE00000897633_45 100.0 100.0 63.89 chr1 10371140 10371262 122
KIF1B_ENST00000676179_ENSE00001049430_46 100.0 100.0 53.72 chr1 10374315 10374465 150
KIF1B_ENST00000676179_ENSE00001049428_47 100.0 100.0 49.34 chr1 10374853 10375046 193
KIF1B_ENST00000676179_ENSE00001065317_48 100.0 100.0 49.28 chr1 10375254 10375373 119
KIF1B_ENST00000676179_ENSE00001472746_49 100.0 99.98 49.63 chr1 10376544 10381603 5059
MAD2L2_ENST00000376692_ENSE00003894266_9 100.0 100.0 53.43 chr1 11674479 11674816 337
MAD2L2_ENST00000376692_ENSE00003889074_8 100.0 100.0 48.72 chr1 11675081 11675174 93
MAD2L2_ENST00000376692_ENSE00003970113_7 100.0 100.0 50.66 chr1 11675657 11675731 74
MAD2L2_ENST00000376692_ENSE00003890407_6 100.0 100.0 50.46 chr1 11676045 11676140 95
MAD2L2_ENST00000376692_ENSE00003641668_5 100.0 100.0 53.67 chr1 11676847 11676948 101
MAD2L2_ENST00000376692_ENSE00003511603_4 100.0 100.0 52.74 chr1 11677542 11677614 72
MAD2L2_ENST00000376692_ENSE00003664098_3 100.0 100.0 45.14 chr1 11680352 11680471 119
MAD2L2_ENST00000376692_ENSE00003611733_2 100.0 100.0 46.04 chr1 11680561 11680613 52
MAD2L2_ENST00000376692_ENSE00001698714_1 100.0 100.0 44.64 chr1 11681038 11681148 110
SDHB_ENST00000375499_ENSE00004022584_8 100.0 100.0 52.24 chr1 17018721 17018958 237
SDHB_ENST00000375499_ENSE00004013903_7 100.0 100.0 57.28 chr1 17022607 17022730 123
SDHB_ENST00000375499_ENSE00003791578_6 100.0 100.0 57.53 chr1 17023972 17024074 102
SDHB_ENST00000375499_ENSE00003786914_5 100.0 100.0 49.32 chr1 17027748 17027865 117
SDHB_ENST00000375499_ENSE00003681743_4 100.0 100.0 53.34 chr1 17028599 17028736 137
SDHB_ENST00000375499_ENSE00003598239_3 100.0 100.0 57.17 chr1 17033059 17033145 86
SDHB_ENST00000375499_ENSE00003728285_2 100.0 100.0 62.57 chr1 17044760 17044888 128
SDHB_ENST00000375499_ENSE00004022595_1 100.0 100.0 50.47 chr1 17053947 17054032 85
PADI6_ENST00000619609_ENSE00003736625_1 100.0 100.0 51.04 chr1 17372195 17372361 166
PADI6_ENST00000619609_ENSE00003716662_2 100.0 100.0 52.21 chr1 17373055 17373233 178
PADI6_ENST00000619609_ENSE00003741343_3 100.0 100.0 52.52 chr1 17375426 17375499 73
PADI6_ENST00000619609_ENSE00003753264_4 100.0 100.0 47.16 chr1 17379919 17379987 68
PADI6_ENST00000619609_ENSE00003740425_5 100.0 100.0 39.75 chr1 17381046 17381164 118
PADI6_ENST00000619609_ENSE00003730598_6 100.0 100.0 37.73 chr1 17381966 17382092 126
PADI6_ENST00000619609_ENSE00003737453_7 100.0 100.0 41.64 chr1 17388380 17388559 179
PADI6_ENST00000619609_ENSE00003721743_8 100.0 100.0 39.71 chr1 17388776 17388880 104
PADI6_ENST00000619609_ENSE00003744684_9 100.0 100.0 46.03 chr1 17392113 17392225 112
PADI6_ENST00000619609_ENSE00003739492_10 100.0 100.0 52.05 chr1 17393974 17394082 108
PADI6_ENST00000619609_ENSE00003742860_11 100.0 100.0 51.15 chr1 17394299 17394454 155
PADI6_ENST00000619609_ENSE00003734908_12 100.0 100.0 55.36 chr1 17394950 17395107 157
PADI6_ENST00000619609_ENSE00003734363_13 100.0 100.0 60.23 chr1 17395539 17395663 124
PADI6_ENST00000619609_ENSE00003734813_14 100.0 100.0 64.46 chr1 17397070 17397141 71
PADI6_ENST00000619609_ENSE00003726671_15 100.0 100.0 55.04 chr1 17398685 17398847 162
PADI6_ENST00000619609_ENSE00003712079_16 100.0 100.0 43.69 chr1 17401204 17401699 495
RPL11_ENST00000643754_ENSE00001463805_1 100.0 100.0 44.71 chr1 23691805 23691829 24
RPL11_ENST00000643754_ENSE00003655446_2 100.0 100.0 47.05 chr1 23692608 23692759 151
RPL11_ENST00000643754_ENSE00003529048_3 100.0 100.0 51.05 chr1 23693806 23693913 107
RPL11_ENST00000643754_ENSE00003542504_4 100.0 100.0 55.58 chr1 23694659 23694791 132
RPL11_ENST00000643754_ENSE00003586241_5 100.0 100.0 57.74 chr1 23695797 23695908 111
RPL11_ENST00000643754_ENSE00003827991_6 100.0 100.0 50.36 chr1 23696343 23696835 492
CSF3R_ENST00000373106_ENSE00001633459_17 100.0 100.0 55.79 chr1 36466042 36466827 785
CSF3R_ENST00000373106_ENSE00003501963_16 100.0 100.0 52.52 chr1 36467229 36467311 82
CSF3R_ENST00000373106_ENSE00003616645_15 100.0 100.0 51.99 chr1 36467557 36467651 94
CSF3R_ENST00000373106_ENSE00000807443_14 100.0 100.0 55.61 chr1 36467821 36467962 141
CSF3R_ENST00000373106_ENSE00003591626_13 100.0 100.0 56.59 chr1 36468074 36468221 147
CSF3R_ENST00000373106_ENSE00003491116_12 100.0 100.0 64.39 chr1 36469155 36469257 102
CSF3R_ENST00000373106_ENSE00003600643_11 100.0 100.0 61.4 chr1 36469651 36469840 189
CSF3R_ENST00000373106_ENSE00003536478_10 100.0 100.0 60.16 chr1 36471432 36471646 214
CSF3R_ENST00000373106_ENSE00003618998_9 100.0 100.0 54.07 chr1 36472065 36472139 74
CSF3R_ENST00000373106_ENSE00003557128_8 100.0 100.0 53.9 chr1 36472237 36472391 154
CSF3R_ENST00000373106_ENSE00003618385_7 100.0 100.0 56.16 chr1 36472516 36472686 170
CSF3R_ENST00000373106_ENSE00003565017_6 100.0 100.0 60.5 chr1 36473434 36473622 188
CSF3R_ENST00000373106_ENSE00003631581_5 100.0 100.0 63.58 chr1 36473763 36473887 124
CSF3R_ENST00000373106_ENSE00000807433_4 100.0 100.0 60.86 chr1 36475376 36475673 297
CSF3R_ENST00000373106_ENSE00003548006_3 100.0 100.0 60.38 chr1 36479432 36479516 84
CSF3R_ENST00000373106_ENSE00001459523_2 100.0 100.0 62.18 chr1 36481477 36481537 60
CSF3R_ENST00000373106_ENSE00000000237_1 100.0 100.0 62.23 chr1 36482810 36482913 103
MPL_ENST00000372470_ENSE00003897867_1 100.0 100.0 50.5 chr1 43337817 43337927 110
MPL_ENST00000372470_ENSE00000769675_2 100.0 100.0 49.13 chr1 43338098 43338231 133
MPL_ENST00000372470_ENSE00000769674_3 100.0 100.0 52.33 chr1 43338541 43338720 179
MPL_ENST00000372470_ENSE00000769673_4 100.0 100.0 57.58 chr1 43339270 43339569 299
MPL_ENST00000372470_ENSE00000769672_5 100.0 100.0 55.15 chr1 43339963 43340126 163
MPL_ENST00000372470_ENSE00000769671_6 100.0 100.0 49.91 chr1 43340386 43340513 127
MPL_ENST00000372470_ENSE00000769670_7 100.0 100.0 47.49 chr1 43346444 43346629 185
MPL_ENST00000372470_ENSE00000769669_8 100.0 100.0 52.28 chr1 43346791 43346934 143
MPL_ENST00000372470_ENSE00000769667_9 100.0 100.0 47.69 chr1 43348842 43349002 160
MPL_ENST00000372470_ENSE00000769665_10 100.0 100.0 48.6 chr1 43349262 43349359 97
MPL_ENST00000372470_ENSE00000769664_11 100.0 100.0 47.51 chr1 43352215 43352303 88
MPL_ENST00000372470_ENSE00003897233_12 99.9 99.44 44.95 chr1 43352517 43354466 1949
UROD_ENST00000246337_ENSE00001901830_1 100.0 100.0 53.84 chr1 45012253 45012285 32
UROD_ENST00000246337_ENSE00003672572_2 100.0 100.0 51.64 chr1 45012906 45013019 113
UROD_ENST00000246337_ENSE00003545324_3 100.0 100.0 51.45 chr1 45013135 45013215 80
UROD_ENST00000246337_ENSE00003573698_4 100.0 100.0 50.57 chr1 45013291 45013354 63
UROD_ENST00000246337_ENSE00003591712_5 100.0 100.0 56.46 chr1 45013593 45013791 198
UROD_ENST00000246337_ENSE00003540094_6 100.0 100.0 57.09 chr1 45013908 45014070 162
UROD_ENST00000246337_ENSE00003552933_7 100.0 100.0 58.54 chr1 45014438 45014576 138
UROD_ENST00000246337_ENSE00003495209_8 100.0 100.0 56.7 chr1 45014735 45014836 101
UROD_ENST00000246337_ENSE00003628717_9 100.0 100.0 53.39 chr1 45014939 45015006 67
UROD_ENST00000246337_ENSE00003684657_10 100.0 100.0 52.13 chr1 45015336 45015575 239
MUTYH_ENST00000456914_ENSE00003520371_16 100.0 100.0 33.86 chr1 45329241 45329437 196
MUTYH_ENST00000456914_ENSE00003511189_15 100.0 100.0 38.74 chr1 45330515 45330557 42
MUTYH_ENST00000456914_ENSE00003651673_14 100.0 100.0 45.23 chr1 45331181 45331334 153
MUTYH_ENST00000456914_ENSE00003570172_13 100.0 100.0 45.56 chr1 45331419 45331556 137
MUTYH_ENST00000456914_ENSE00003583391_12 100.0 100.0 46.53 chr1 45331660 45331849 189
MUTYH_ENST00000456914_ENSE00003664970_11 100.0 100.0 44.78 chr1 45332022 45332086 64
MUTYH_ENST00000456914_ENSE00003548680_10 100.0 100.0 45.61 chr1 45332165 45332310 145
MUTYH_ENST00000456914_ENSE00003702886_9 100.0 100.0 44.68 chr1 45332390 45332488 98
MUTYH_ENST00000456914_ENSE00003665238_8 100.0 100.0 44.51 chr1 45332573 45332687 114
MUTYH_ENST00000456914_ENSE00003673115_7 100.0 100.0 43.35 chr1 45332762 45332834 72
MUTYH_ENST00000456914_ENSE00003522055_6 100.0 100.0 43.88 chr1 45332917 45332959 42
MUTYH_ENST00000456914_ENSE00003461605_5 100.0 100.0 45.8 chr1 45333096 45333170 74
MUTYH_ENST00000456914_ENSE00003546541_4 100.0 100.0 47.45 chr1 45333284 45333324 40
MUTYH_ENST00000456914_ENSE00003786928_3 100.0 100.0 46.25 chr1 45333412 45333561 149
MUTYH_ENST00000456914_ENSE00003538472_2 100.0 100.0 48.32 chr1 45334390 45334511 121
MUTYH_ENST00000456914_ENSE00001787263_1 100.0 100.0 45.29 chr1 45339898 45339970 72
GFI1_ENST00000294702_ENSE00001817536_7 100.0 99.97 47.6 chr1 92473042 92476207 3165
GFI1_ENST00000294702_ENSE00001067549_6 100.0 100.0 49.2 chr1 92478587 92478753 166
GFI1_ENST00000294702_ENSE00001067552_5 100.0 100.0 47.24 chr1 92480347 92480485 138
GFI1_ENST00000294702_ENSE00001144597_4 100.0 100.0 46.77 chr1 92480600 92481088 488
GFI1_ENST00000294702_ENSE00001144606_3 100.0 99.45 40.36 chr1 92482863 92483046 183
GFI1_ENST00000294702_ENSE00003524540_2 100.0 100.0 37.54 chr1 92483372 92483586 214
GFI1_ENST00000294702_ENSE00001379885_1 100.0 100.0 44.31 chr1 92486725 92486925 200
RPL5_ENST00000370321_ENSE00003819363_1 100.0 100.0 51.41 chr1 92832039 92832117 78
RPL5_ENST00000370321_ENSE00003509347_2 100.0 100.0 54.43 chr1 92833388 92833458 70
RPL5_ENST00000370321_ENSE00003466739_3 100.0 100.0 53.91 chr1 92833544 92833660 116
RPL5_ENST00000370321_ENSE00003467828_4 100.0 100.0 51.93 chr1 92834778 92834913 135
RPL5_ENST00000370321_ENSE00002260159_5 100.0 100.0 45.97 chr1 92836189 92836392 203
RPL5_ENST00000370321_ENSE00003387580_6 100.0 100.0 53.44 chr1 92837455 92837633 178
RPL5_ENST00000370321_ENSE00003468375_7 100.0 100.0 49.1 chr1 92840550 92840639 89
RPL5_ENST00000370321_ENSE00001897153_8 100.0 100.0 54.15 chr1 92841765 92841924 159
DPYD_ENST00000370192_ENSE00001837520_23 100.0 100.0 75.83 chr1 97077742 97079146 1404
DPYD_ENST00000370192_ENSE00001067062_22 100.0 100.0 72.99 chr1 97082329 97082470 141
DPYD_ENST00000370192_ENSE00001003444_21 100.0 100.0 58.67 chr1 97098488 97098632 144
DPYD_ENST00000370192_ENSE00001179015_20 100.0 100.0 52.94 chr1 97193068 97193248 180
DPYD_ENST00000370192_ENSE00001248261_19 100.0 100.0 50.99 chr1 97234851 97234994 143
DPYD_ENST00000370192_ENSE00001402719_18 100.0 100.0 69.36 chr1 97305258 97305378 120
DPYD_ENST00000370192_ENSE00001401691_17 100.0 100.0 59.44 chr1 97306176 97306297 121
DPYD_ENST00000370192_ENSE00001293694_16 100.0 100.0 58.48 chr1 97373560 97373644 84
DPYD_ENST00000370192_ENSE00001175939_15 100.0 100.0 75.28 chr1 97382392 97382461 69
DPYD_ENST00000370192_ENSE00001067066_14 100.0 100.0 61.5 chr1 97450058 97450223 165
DPYD_ENST00000370192_ENSE00001175948_13 100.0 100.0 48.35 chr1 97515725 97515941 216
DPYD_ENST00000370192_ENSE00001416589_12 100.0 100.0 49.23 chr1 97549559 97549744 185
DPYD_ENST00000370192_ENSE00001433514_11 100.0 100.0 58.9 chr1 97573759 97573970 211
DPYD_ENST00000370192_ENSE00001431920_10 100.0 100.0 65.58 chr1 97593217 97593387 170
DPYD_ENST00000370192_ENSE00001430871_9 100.0 100.0 69.58 chr1 97595058 97595166 108
DPYD_ENST00000370192_ENSE00001429819_8 100.0 100.0 62.32 chr1 97679094 97679182 88
DPYD_ENST00000370192_ENSE00001428755_7 100.0 100.0 49.26 chr1 97691716 97691798 82
DPYD_ENST00000370192_ENSE00003676911_6 100.0 100.0 63.58 chr1 97699350 97699547 197
DPYD_ENST00000370192_ENSE00001175981_5 100.0 100.0 58.36 chr1 97721509 97721671 162
DPYD_ENST00000370192_ENSE00001337292_4 100.0 100.0 50.64 chr1 97740391 97740479 88
DPYD_ENST00000370192_ENSE00001761942_3 100.0 100.0 55.61 chr1 97828113 97828196 83
DPYD_ENST00000370192_ENSE00003527026_2 100.0 100.0 68.46 chr1 97883263 97883374 111
DPYD_ENST00000370192_ENSE00001844147_1 100.0 100.0 73.99 chr1 97920883 97921034 151
NRAS_ENST00000369535_ENSE00001450280_7 100.0 99.97 51.47 chr1 114704468 114708050 3582
NRAS_ENST00000369535_ENSE00001365300_6 100.0 100.0 60.97 chr1 114708153 114708192 39
NRAS_ENST00000369535_ENSE00000800104_5 100.0 100.0 62.04 chr1 114708530 114708654 124
NRAS_ENST00000369535_ENSE00000784343_4 100.0 100.0 62.97 chr1 114709568 114709728 160
NRAS_ENST00000369535_ENSE00001751295_3 100.0 100.0 57.17 chr1 114713799 114713978 179
NRAS_ENST00000369535_ENSE00001450282_2 100.0 100.0 49.21 chr1 114716049 114716177 128
NRAS_ENST00000369535_ENSE00001364464_1 100.0 100.0 52.4 chr1 114716657 114716771 114
RPS27_ENST00000651669_ENSE00003844361_1 100.0 100.0 45.22 chr1 153990761 153990802 41
RPS27_ENST00000651669_ENSE00003688128_2 100.0 100.0 47.31 chr1 153991114 153991223 109
RPS27_ENST00000651669_ENSE00003468875_3 100.0 100.0 47.59 chr1 153991565 153991676 111
RPS27_ENST00000651669_ENSE00003669489_4 100.0 100.0 48.48 chr1 153992064 153992155 91
HAX1_ENST00000328703_ENSE00001910730_1 100.0 100.0 58.34 chr1 154272628 154272776 148
HAX1_ENST00000328703_ENSE00003968944_2 100.0 100.0 48.79 chr1 154273335 154273598 263
HAX1_ENST00000328703_ENSE00003968935_3 100.0 100.0 48.31 chr1 154273773 154273961 188
HAX1_ENST00000328703_ENSE00003968945_4 100.0 100.0 43.64 chr1 154274949 154275001 52
HAX1_ENST00000328703_ENSE00003968943_5 100.0 100.0 46.06 chr1 154275153 154275260 107
HAX1_ENST00000328703_ENSE00003968941_6 100.0 100.0 47.45 chr1 154275392 154275483 91
HAX1_ENST00000328703_ENSE00003969188_7 100.0 100.0 41.54 chr1 154275615 154275875 260
GBA1_ENST00000368373_ENSE00001917720_11 100.0 100.0 63.63 chr1 155234451 155235100 649
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ITK_ENST00000422843_ENSE00003969059_13 100.0 100.0 66.8 chr5 157244261 157244478 217
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NPM1_ENST00000296930_ENSE00003625205_4 100.0 100.0 62.48 chr5 171391705 171391799 94
NPM1_ENST00000296930_ENSE00001084454_5 100.0 100.0 53.19 chr5 171392709 171392816 107
NPM1_ENST00000296930_ENSE00001084453_6 100.0 100.0 52.29 chr5 171392913 171392978 65
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NPM1_ENST00000296930_ENSE00001084451_8 100.0 100.0 50.34 chr5 171400838 171400925 87
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NSD1_ENST00000439151_ENSE00001547915_3 100.0 100.0 63.11 chr5 177191883 177192019 136
NSD1_ENST00000439151_ENSE00001549090_4 100.0 100.0 54.66 chr5 177204119 177204292 173
NSD1_ENST00000439151_ENSE00003808375_5 100.0 100.0 46.99 chr5 177209635 177212195 2560
NSD1_ENST00000439151_ENSE00004014213_6 100.0 100.0 49.62 chr5 177235820 177235945 125
NSD1_ENST00000439151_ENSE00004014209_7 100.0 100.0 48.4 chr5 177238236 177238507 271
NSD1_ENST00000439151_ENSE00004014208_8 100.0 100.0 56.32 chr5 177239755 177239865 110
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NSD1_ENST00000439151_ENSE00004014204_10 100.0 100.0 55.02 chr5 177246677 177246796 119
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NSD1_ENST00000439151_ENSE00004014201_13 100.0 100.0 54.57 chr5 177256950 177257151 201
NSD1_ENST00000439151_ENSE00004014214_14 100.0 100.0 52.36 chr5 177259988 177260168 180
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NSD1_ENST00000439151_ENSE00004014205_17 100.0 100.0 56.4 chr5 177273671 177273784 113
NSD1_ENST00000439151_ENSE00004014216_18 100.0 100.0 64.43 chr5 177280564 177280834 270
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NSD1_ENST00000439151_ENSE00004014203_20 100.0 100.0 63.39 chr5 177283786 177283928 142
NSD1_ENST00000439151_ENSE00004014219_21 100.0 100.0 68.11 chr5 177288818 177288925 107
NSD1_ENST00000439151_ENSE00004014210_22 100.0 100.0 46.77 chr5 177291953 177292158 205
NSD1_ENST00000439151_ENSE00004014217_23 100.0 99.98 57.0 chr5 177293831 177300213 6382
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DDX41_ENST00000330503_ENSE00003686985_16 100.0 100.0 49.93 chr5 177512095 177512206 111
DDX41_ENST00000330503_ENSE00003602667_15 100.0 100.0 51.32 chr5 177512321 177512393 72
DDX41_ENST00000330503_ENSE00003469987_14 100.0 100.0 51.57 chr5 177512495 177512645 150
DDX41_ENST00000330503_ENSE00003662308_13 100.0 100.0 50.24 chr5 177512779 177512876 97
DDX41_ENST00000330503_ENSE00003582082_12 100.0 100.0 49.38 chr5 177513010 177513082 72
DDX41_ENST00000330503_ENSE00003627584_11 100.0 100.0 46.83 chr5 177513352 177513484 132
DDX41_ENST00000330503_ENSE00003589950_10 100.0 100.0 45.56 chr5 177513684 177513847 163
DDX41_ENST00000330503_ENSE00003535690_9 100.0 100.0 49.56 chr5 177514700 177514837 137
DDX41_ENST00000330503_ENSE00003590706_8 100.0 100.0 45.56 chr5 177514915 177515069 154
DDX41_ENST00000330503_ENSE00003593376_7 100.0 100.0 47.18 chr5 177515185 177515258 73
DDX41_ENST00000330503_ENSE00003654389_6 100.0 100.0 48.19 chr5 177515684 177515821 137
DDX41_ENST00000330503_ENSE00003546567_5 100.0 100.0 47.88 chr5 177515928 177515989 61
DDX41_ENST00000330503_ENSE00003525184_4 100.0 100.0 47.43 chr5 177516118 177516193 75
DDX41_ENST00000330503_ENSE00003512147_3 100.0 100.0 46.71 chr5 177516287 177516447 160
DDX41_ENST00000330503_ENSE00003631563_2 100.0 100.0 45.85 chr5 177516724 177516835 111
DDX41_ENST00000330503_ENSE00003681026_1 100.0 100.0 44.33 chr5 177516918 177516961 43
NHP2_ENST00000274606_ENSE00001614289_4 100.0 100.0 50.67 chr5 178149462 178149838 376
NHP2_ENST00000274606_ENSE00000972983_3 100.0 100.0 50.03 chr5 178150887 178150993 106
NHP2_ENST00000274606_ENSE00000972982_2 100.0 100.0 43.81 chr5 178153490 178153560 70
NHP2_ENST00000274606_ENSE00001839144_1 100.0 100.0 44.52 chr5 178153657 178153885 228
SQSTM1_ENST00000389805_ENSE00002710344_1 100.0 100.0 59.6 chr5 179820904 179821141 237
SQSTM1_ENST00000389805_ENSE00003525409_2 100.0 100.0 64.59 chr5 179822957 179823053 96
SQSTM1_ENST00000389805_ENSE00003529424_3 100.0 100.0 59.35 chr5 179823857 179824087 230
SQSTM1_ENST00000389805_ENSE00003787017_4 100.0 100.0 59.78 chr5 179824181 179824323 142
SQSTM1_ENST00000389805_ENSE00003791241_5 100.0 100.0 67.04 chr5 179825145 179825226 81
SQSTM1_ENST00000389805_ENSE00002271178_6 100.0 100.0 53.58 chr5 179833031 179833246 215
SQSTM1_ENST00000389805_ENSE00002209764_7 100.0 100.0 55.24 chr5 179833586 179833782 196
SQSTM1_ENST00000389805_ENSE00001506956_8 100.0 100.0 46.2 chr5 179836435 179838078 1643
HLA-A_ENST00000376809_ENSE00003997344_1 100.0 100.0 49.39 chr6 29942531 29942626 95
HLA-A_ENST00000376809_ENSE00003893776_2 100.0 100.0 49.55 chr6 29942756 29943026 270
HLA-A_ENST00000376809_ENSE00003895764_3 100.0 100.0 50.92 chr6 29943267 29943543 276
HLA-A_ENST00000376809_ENSE00003617747_4 100.0 100.0 48.86 chr6 29944121 29944397 276
HLA-A_ENST00000376809_ENSE00003518731_5 100.0 100.0 48.53 chr6 29944499 29944616 117
HLA-A_ENST00000376809_ENSE00003618247_6 100.0 100.0 48.91 chr6 29945058 29945091 33
HLA-A_ENST00000376809_ENSE00003515521_7 100.0 100.0 49.44 chr6 29945233 29945281 48
HLA-A_ENST00000376809_ENSE00003997356_8 100.0 100.0 50.5 chr6 29945450 29945870 420
HLA-C_ENST00000376228_ENSE00003639220_8 100.0 99.76 53.4 chr6 31268748 31269173 425
HLA-C_ENST00000376228_ENSE00003605599_7 100.0 100.0 50.42 chr6 31269337 31269385 48
HLA-C_ENST00000376228_ENSE00003498981_6 100.0 100.0 52.39 chr6 31269492 31269525 33
HLA-C_ENST00000376228_ENSE00003485307_5 100.0 100.0 57.47 chr6 31269965 31270085 120
HLA-C_ENST00000376228_ENSE00003557341_4 100.0 100.0 61.94 chr6 31270209 31270485 276
HLA-C_ENST00000376228_ENSE00003685062_3 100.0 100.0 64.84 chr6 31271072 31271348 276
HLA-C_ENST00000376228_ENSE00003296924_2 100.0 100.0 63.34 chr6 31271598 31271868 270
HLA-C_ENST00000376228_ENSE00003922730_1 100.0 100.0 63.86 chr6 31271998 31272092 94
HLA-B_ENST00000412585_ENSE00003967701_8 100.0 100.0 80.35 chr6 31353874 31354296 422
HLA-B_ENST00000412585_ENSE00003481286_7 100.0 100.0 84.29 chr6 31354478 31354526 48
HLA-B_ENST00000412585_ENSE00001629892_6 100.0 100.0 83.76 chr6 31354632 31354665 33
HLA-B_ENST00000412585_ENSE00001724119_5 100.0 100.0 82.54 chr6 31355106 31355223 117
HLA-B_ENST00000412585_ENSE00003378475_4 100.0 100.0 81.03 chr6 31355316 31355592 276
HLA-B_ENST00000412585_ENSE00003967698_3 100.0 100.0 84.49 chr6 31356166 31356442 276
HLA-B_ENST00000412585_ENSE00003967704_2 99.63 99.63 79.24 chr6 31356687 31356957 270
HLA-B_ENST00000412585_ENSE00001832377_1 100.0 100.0 78.06 chr6 31357085 31357179 94
HLA-DRB1_ENST00000360004_ENSE00003978165_6 100.0 100.0 38.72 chr6 32578774 32579104 330
HLA-DRB1_ENST00000360004_ENSE00003967859_5 100.0 100.0 34.46 chr6 32580246 32580270 24
HLA-DRB1_ENST00000360004_ENSE00003967854_4 100.0 100.0 37.03 chr6 32580745 32580856 111
HLA-DRB1_ENST00000360004_ENSE00003967851_3 100.0 100.0 38.88 chr6 32581556 32581838 282
HLA-DRB1_ENST00000360004_ENSE00003967857_2 100.0 99.63 37.1 chr6 32584108 32584378 270
HLA-DRB1_ENST00000360004_ENSE00003967852_1 100.0 100.0 56.5 chr6 32589642 32589848 206
HLA-DQA1_ENST00000343139_ENSE00001886858_1 100.0 100.0 46.77 chr6 32637405 32637540 135
HLA-DQA1_ENST00000343139_ENSE00003527459_2 100.0 99.6 44.2 chr6 32641309 32641558 249
HLA-DQA1_ENST00000343139_ENSE00003658074_3 100.0 100.0 44.49 chr6 32641971 32642253 282
HLA-DQA1_ENST00000343139_ENSE00003566368_4 100.0 100.0 45.78 chr6 32642609 32642784 175
HLA-DQA1_ENST00000343139_ENSE00001521486_5 100.0 99.86 44.68 chr6 32642951 32643684 733
HLA-DQB1_ENST00000434651_ENSE00003507676_5 100.0 99.87 43.28 chr6 32659466 32660249 783
HLA-DQB1_ENST00000434651_ENSE00003562109_4 100.0 100.0 46.58 chr6 32661346 32661457 111
HLA-DQB1_ENST00000434651_ENSE00001596914_3 100.0 100.0 45.46 chr6 32661966 32662248 282
HLA-DQB1_ENST00000434651_ENSE00003421994_2 100.0 100.0 46.8 chr6 32664797 32665067 270
HLA-DQB1_ENST00000434651_ENSE00001817837_1 100.0 100.0 46.04 chr6 32666498 32666657 159
HLA-DPA1_ENST00000692443_ENSE00001800046_5 100.0 100.0 57.16 chr6 33064568 33065347 779
HLA-DPA1_ENST00000692443_ENSE00001618955_4 100.0 100.0 51.96 chr6 33068637 33068804 167
HLA-DPA1_ENST00000692443_ENSE00003788367_3 100.0 100.0 51.67 chr6 33069018 33069300 282
HLA-DPA1_ENST00000692443_ENSE00003500411_2 100.0 100.0 52.46 chr6 33069640 33069886 246
HLA-DPA1_ENST00000692443_ENSE00003938257_1 100.0 100.0 58.6 chr6 33073470 33073649 179
RPS10_ENST00000648437_ENSE00003473023_6 100.0 100.0 62.58 chr6 34417453 34417547 94
RPS10_ENST00000648437_ENSE00003474809_5 100.0 100.0 61.04 chr6 34418368 34418424 56
RPS10_ENST00000648437_ENSE00003546322_4 100.0 100.0 61.9 chr6 34421729 34421807 78
RPS10_ENST00000648437_ENSE00003531744_3 100.0 100.0 53.86 chr6 34424668 34424840 172
RPS10_ENST00000648437_ENSE00003757260_2 100.0 100.0 53.93 chr6 34425071 34425221 150
RPS10_ENST00000648437_ENSE00003821574_1 100.0 100.0 50.4 chr6 34426031 34426069 38
FANCE_ENST00000229769_ENSE00000849631_1 100.0 100.0 62.04 chr6 35452337 35452793 456
FANCE_ENST00000229769_ENSE00000849632_2 100.0 100.0 66.17 chr6 35455746 35456353 607
FANCE_ENST00000229769_ENSE00000849633_3 100.0 100.0 67.42 chr6 35457555 35457600 45
FANCE_ENST00000229769_ENSE00000747051_4 100.0 100.0 68.83 chr6 35457915 35457984 69
FANCE_ENST00000229769_ENSE00000849634_5 100.0 100.0 68.78 chr6 35458296 35458440 144
FANCE_ENST00000229769_ENSE00000849635_6 100.0 100.0 70.03 chr6 35459330 35459454 124
FANCE_ENST00000229769_ENSE00000849636_7 100.0 100.0 68.58 chr6 35459681 35459760 79
FANCE_ENST00000229769_ENSE00000849637_8 100.0 100.0 62.6 chr6 35460551 35460618 67
FANCE_ENST00000229769_ENSE00000849638_9 100.0 100.0 69.3 chr6 35462788 35462914 126
FANCE_ENST00000229769_ENSE00001032057_10 100.0 100.0 62.35 chr6 35466243 35467102 859
POLH_ENST00000372236_ENSE00001717994_1 100.0 100.0 58.67 chr6 43576184 43576440 256
POLH_ENST00000372236_ENSE00001457304_2 100.0 100.0 46.55 chr6 43582315 43582456 141
POLH_ENST00000372236_ENSE00003481299_3 100.0 100.0 50.3 chr6 43583006 43583141 135
POLH_ENST00000372236_ENSE00000752927_4 100.0 100.0 62.03 chr6 43587271 43587489 218
POLH_ENST00000372236_ENSE00000481500_5 100.0 100.0 66.08 chr6 43597695 43597865 170
POLH_ENST00000372236_ENSE00001172213_6 100.0 100.0 50.89 chr6 43600987 43601091 104
POLH_ENST00000372236_ENSE00001172207_7 100.0 100.0 44.56 chr6 43603891 43604011 120
POLH_ENST00000372236_ENSE00001172201_8 100.0 100.0 50.41 chr6 43604614 43604738 124
POLH_ENST00000372236_ENSE00001172195_9 100.0 100.0 47.44 chr6 43605253 43605319 66
POLH_ENST00000372236_ENSE00001172191_10 100.0 100.0 61.03 chr6 43610553 43610723 170
POLH_ENST00000372236_ENSE00001861041_11 99.94 99.87 56.62 chr6 43613659 43620523 6864
TBXT_ENST00000366876_ENSE00002282159_8 100.0 100.0 55.43 chr6 166157655 166158588 933
TBXT_ENST00000366876_ENSE00001084542_7 100.0 100.0 56.17 chr6 166160836 166160966 130
TBXT_ENST00000366876_ENSE00002553803_6 100.0 100.0 63.34 chr6 166162446 166162623 177
TBXT_ENST00000366876_ENSE00001084540_5 100.0 100.0 56.32 chr6 166164604 166164666 62
TBXT_ENST00000366876_ENSE00001084545_4 100.0 100.0 56.97 chr6 166164799 166164861 62
TBXT_ENST00000366876_ENSE00002523055_3 100.0 100.0 56.38 chr6 166165705 166165840 135
TBXT_ENST00000366876_ENSE00002493193_2 100.0 100.0 53.39 chr6 166166591 166166856 265
TBXT_ENST00000366876_ENSE00001442878_1 100.0 100.0 55.01 chr6 166167385 166167851 466
PMS2_ENST00000265849_ENSE00001848489_15 99.81 1.95 27.02 chr7 5970924 5973542 2618
PMS2_ENST00000265849_ENSE00001608691_14 100.0 29.41 29.04 chr7 5977587 5977757 170
PMS2_ENST00000265849_ENSE00001793579_13 100.0 94.06 30.64 chr7 5978595 5978696 101
PMS2_ENST00000265849_ENSE00001752874_12 100.0 100.0 43.75 chr7 5982823 5982991 168
PMS2_ENST00000265849_ENSE00000669421_11 100.0 100.0 55.44 chr7 5986758 5987620 862
PMS2_ENST00000265849_ENSE00003732666_10 100.0 100.0 60.85 chr7 5989799 5989955 156
PMS2_ENST00000265849_ENSE00003739851_9 100.0 100.0 54.68 chr7 5991972 5992057 85
PMS2_ENST00000265849_ENSE00003734436_8 100.0 100.0 70.29 chr7 5995533 5995633 100
PMS2_ENST00000265849_ENSE00003713592_7 100.0 100.0 75.94 chr7 5997325 5997423 98
PMS2_ENST00000265849_ENSE00003739198_6 100.0 100.0 65.22 chr7 5999107 5999275 168
PMS2_ENST00000265849_ENSE00003715574_5 100.0 100.0 57.62 chr7 6002452 6002636 184
PMS2_ENST00000265849_ENSE00003478459_4 100.0 100.0 52.8 chr7 6003689 6003792 103
PMS2_ENST00000265849_ENSE00003684470_3 100.0 100.0 56.75 chr7 6003971 6004058 87
PMS2_ENST00000265849_ENSE00003610845_2 100.0 100.0 51.24 chr7 6005891 6006031 140
PMS2_ENST00000265849_ENSE00001848021_1 100.0 100.0 53.09 chr7 6008996 6009049 53
PMS2CL_ENST00000403974_ENSE00002241598_1 100.0 100.0 60.56 chr7 6735305 6735389 84
PMS2CL_ENST00000403974_ENSE00002246942_2 100.0 100.0 64.38 chr7 6737076 6737936 860
PMS2CL_ENST00000403974_ENSE00002232181_3 100.0 100.0 55.71 chr7 6741685 6741852 167
PMS2CL_ENST00000403974_ENSE00002324106_4 100.0 100.0 70.15 chr7 6746088 6746188 100
PMS2CL_ENST00000403974_ENSE00002304496_5 100.0 100.0 72.68 chr7 6747036 6747205 169
PMS2CL_ENST00000403974_ENSE00001737521_6 100.0 100.0 74.99 chr7 6751249 6751392 143
IKZF1_ENST00000331340_ENSE00003830192_1 100.0 100.0 62.07 chr7 50304715 50304922 207
IKZF1_ENST00000331340_ENSE00003490611_2 100.0 100.0 55.63 chr7 50319047 50319101 54
IKZF1_ENST00000331340_ENSE00003597423_3 100.0 100.0 64.63 chr7 50327637 50327757 120
IKZF1_ENST00000331340_ENSE00003520749_4 100.0 100.0 44.25 chr7 50376532 50376793 261
IKZF1_ENST00000331340_ENSE00003496551_5 100.0 100.0 57.54 chr7 50382539 50382707 168
IKZF1_ENST00000331340_ENSE00003974053_6 100.0 100.0 56.69 chr7 50387344 50387470 126
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RB1_ENST00000267163_ENSE00000939683_21 100.0 100.0 54.32 chr13 48463730 48463835 105
RB1_ENST00000267163_ENSE00000939684_22 100.0 100.0 43.12 chr13 48464997 48465111 114
RB1_ENST00000267163_ENSE00000939685_23 100.0 100.0 45.52 chr13 48465204 48465368 164
RB1_ENST00000267163_ENSE00001003962_24 100.0 100.0 47.64 chr13 48473359 48473390 31
RB1_ENST00000267163_ENSE00003541600_25 100.0 100.0 67.52 chr13 48476700 48476843 143
RB1_ENST00000267163_ENSE00003641827_26 100.0 100.0 72.3 chr13 48477354 48477404 50
RB1_ENST00000267163_ENSE00001241067_27 100.0 100.0 79.45 chr13 48479997 48481890 1893
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ERCC5_ENST00000652225_ENSE00003481581_3 100.0 100.0 63.04 chr13 102853756 102853872 116
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ERCC5_ENST00000652225_ENSE00003524230_5 100.0 100.0 53.82 chr13 102856051 102856112 61
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ERCC5_ENST00000652225_ENSE00003574188_7 100.0 100.0 60.27 chr13 102861506 102861714 208
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ERCC5_ENST00000652225_ENSE00003653565_9 100.0 100.0 66.94 chr13 102865666 102865911 245
ERCC5_ENST00000652225_ENSE00003489189_10 100.0 100.0 69.9 chr13 102866261 102866381 120
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TINF2_ENST00000267415_ENSE00003614965_8 100.0 100.0 44.65 chr14 24240063 24240155 92
TINF2_ENST00000267415_ENSE00001193206_7 100.0 100.0 44.72 chr14 24240262 24240330 68
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TINF2_ENST00000267415_ENSE00003662983_5 100.0 100.0 46.43 chr14 24241019 24241116 97
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TINF2_ENST00000267415_ENSE00003977347_2 100.0 100.0 42.02 chr14 24241889 24241994 105
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FANCM_ENST00000267430_ENSE00000940749_2 100.0 100.0 61.94 chr14 45137068 45137241 173
FANCM_ENST00000267430_ENSE00001092692_3 100.0 100.0 56.85 chr14 45140631 45140709 78
FANCM_ENST00000267430_ENSE00001092718_4 100.0 100.0 55.92 chr14 45148836 45148995 159
FANCM_ENST00000267430_ENSE00001232067_5 100.0 100.0 47.65 chr14 45151396 45151528 132
FANCM_ENST00000267430_ENSE00000995468_6 100.0 100.0 45.95 chr14 45153919 45154052 133
FANCM_ENST00000267430_ENSE00001343733_7 100.0 100.0 50.94 chr14 45154696 45154822 126
FANCM_ENST00000267430_ENSE00001232055_8 100.0 100.0 54.23 chr14 45155372 45155459 87
FANCM_ENST00000267430_ENSE00001343725_9 100.0 100.0 56.13 chr14 45159095 45159280 185
FANCM_ENST00000267430_ENSE00001092744_10 100.0 100.0 68.87 chr14 45164358 45164565 207
FANCM_ENST00000267430_ENSE00001426750_11 100.0 100.0 65.01 chr14 45166949 45167163 214
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RAD51B_ENST00000471583_ENSE00003596749_5 100.0 100.0 54.01 chr14 67865002 67865139 137
RAD51B_ENST00000471583_ENSE00003622212_6 100.0 100.0 66.78 chr14 67885868 67885988 120
RAD51B_ENST00000471583_ENSE00003579281_7 100.0 100.0 61.84 chr14 67887020 67887204 184
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DICER1_ENST00000343455_ENSE00003967957_15 100.0 100.0 54.31 chr14 95108323 95108503 180
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DICER1_ENST00000343455_ENSE00003967978_12 100.0 100.0 69.57 chr14 95113091 95113224 133
DICER1_ENST00000343455_ENSE00003967961_11 100.0 100.0 67.8 chr14 95115666 95115821 155
DICER1_ENST00000343455_ENSE00003967968_10 100.0 100.0 66.31 chr14 95116452 95116695 243
DICER1_ENST00000343455_ENSE00003967956_9 100.0 100.0 67.44 chr14 95117621 95117754 133
DICER1_ENST00000343455_ENSE00003967966_8 100.0 100.0 62.7 chr14 95124195 95124668 473
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ATG2B_ENST00000359933_ENSE00003472468_37 100.0 100.0 58.7 chr14 96292028 96292098 70
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LZTR1_ENST00000646124_ENSE00003673759_7 100.0 100.0 47.21 chr22 20989624 20989682 58
LZTR1_ENST00000646124_ENSE00003532860_8 100.0 100.0 47.69 chr22 20990385 20990525 140
LZTR1_ENST00000646124_ENSE00003656947_9 100.0 100.0 45.67 chr22 20991627 20991829 202
LZTR1_ENST00000646124_ENSE00003660441_10 100.0 100.0 48.77 chr22 20992213 20992369 156
LZTR1_ENST00000646124_ENSE00003459928_11 100.0 100.0 51.16 chr22 20992793 20992904 111
LZTR1_ENST00000646124_ENSE00003459800_12 100.0 100.0 47.45 chr22 20993661 20993754 93
LZTR1_ENST00000646124_ENSE00003623090_13 100.0 100.0 50.38 chr22 20993923 20994019 96
LZTR1_ENST00000646124_ENSE00003489826_14 100.0 100.0 52.93 chr22 20994103 20994269 166
LZTR1_ENST00000646124_ENSE00003502709_15 100.0 100.0 55.55 chr22 20994557 20994727 170
LZTR1_ENST00000646124_ENSE00003599943_16 100.0 100.0 56.88 chr22 20994869 20995026 157
LZTR1_ENST00000646124_ENSE00003542765_17 100.0 100.0 60.51 chr22 20995745 20995872 127
LZTR1_ENST00000646124_ENSE00003578472_18 100.0 100.0 59.82 chr22 20995962 20996112 150
LZTR1_ENST00000646124_ENSE00003636692_19 100.0 100.0 56.58 chr22 20996695 20996801 106
LZTR1_ENST00000646124_ENSE00003634607_20 100.0 100.0 57.82 chr22 20996885 20996966 81
LZTR1_ENST00000646124_ENSE00003980199_21 100.0 100.0 59.18 chr22 20997231 20999032 1801
SMARCB1_ENST00000644036_ENSE00003825278_1 100.0 100.0 64.42 chr22 23786965 23787262 297
SMARCB1_ENST00000644036_ENSE00001224609_2 100.0 100.0 58.6 chr22 23791755 23791894 139
SMARCB1_ENST00000644036_ENSE00000651413_3 100.0 100.0 64.32 chr22 23793558 23793688 130
SMARCB1_ENST00000644036_ENSE00000879480_4 100.0 100.0 52.01 chr22 23800943 23801081 138
SMARCB1_ENST00000644036_ENSE00003591896_5 100.0 100.0 55.59 chr22 23803294 23803422 128
SMARCB1_ENST00000644036_ENSE00000651422_6 100.0 100.0 57.3 chr22 23816769 23816936 167
SMARCB1_ENST00000644036_ENSE00000651425_7 100.0 100.0 57.6 chr22 23825224 23825415 191
SMARCB1_ENST00000644036_ENSE00000651428_8 100.0 100.0 34.64 chr22 23833571 23833703 132
SMARCB1_ENST00000644036_ENSE00003821003_9 99.97 99.95 42.28 chr22 23834140 23838009 3869
CHEK2_ENST00000404276_ENSE00003668709_15 100.0 100.0 47.19 chr22 28687742 28687986 244
CHEK2_ENST00000404276_ENSE00003621985_14 100.0 100.0 44.37 chr22 28689134 28689215 81
CHEK2_ENST00000404276_ENSE00003645901_13 100.0 100.0 58.71 chr22 28694031 28694117 86
CHEK2_ENST00000404276_ENSE00003584101_12 100.0 100.0 60.21 chr22 28695126 28695242 116
CHEK2_ENST00000404276_ENSE00003559542_11 100.0 100.0 63.02 chr22 28695709 28695873 164
CHEK2_ENST00000404276_ENSE00003788575_10 100.0 100.0 57.46 chr22 28696900 28696987 87
CHEK2_ENST00000404276_ENSE00003694540_9 100.0 100.0 55.26 chr22 28699837 28699937 100
CHEK2_ENST00000404276_ENSE00003500761_8 100.0 100.0 59.79 chr22 28703504 28703566 62
CHEK2_ENST00000404276_ENSE00003566135_7 100.0 100.0 58.11 chr22 28710005 28710059 54
CHEK2_ENST00000404276_ENSE00003787789_6 100.0 100.0 51.34 chr22 28711908 28712017 109
CHEK2_ENST00000404276_ENSE00003527481_5 100.0 100.0 66.33 chr22 28719394 28719485 91
CHEK2_ENST00000404276_ENSE00003632344_4 100.0 100.0 51.38 chr22 28724976 28725124 148
CHEK2_ENST00000404276_ENSE00003626468_3 100.0 100.0 50.56 chr22 28725242 28725367 125
CHEK2_ENST00000404276_ENSE00003478809_2 100.0 100.0 57.41 chr22 28734402 28734727 325
CHEK2_ENST00000404276_ENSE00003831704_1 100.0 100.0 60.36 chr22 28741768 28741820 52
NF2_ENST00000338641_ENSE00003904031_1 100.0 100.0 56.16 chr22 29603632 29604112 480
NF2_ENST00000338641_ENSE00001373499_2 100.0 100.0 47.43 chr22 29636750 29636876 126
NF2_ENST00000338641_ENSE00001171309_3 100.0 100.0 47.54 chr22 29639089 29639212 123
NF2_ENST00000338641_ENSE00000652099_4 100.0 100.0 53.69 chr22 29642201 29642285 84
NF2_ENST00000338641_ENSE00001323333_5 100.0 100.0 60.28 chr22 29654656 29654725 69
NF2_ENST00000338641_ENSE00001292557_6 100.0 100.0 65.92 chr22 29655593 29655676 83
NF2_ENST00000338641_ENSE00001305681_7 100.0 100.0 61.01 chr22 29658188 29658264 76
NF2_ENST00000338641_ENSE00001383963_8 100.0 100.0 55.64 chr22 29661204 29661339 135
NF2_ENST00000338641_ENSE00001306896_9 100.0 100.0 51.65 chr22 29664989 29665064 75
NF2_ENST00000338641_ENSE00001325971_10 100.0 100.0 49.91 chr22 29668332 29668446 114
NF2_ENST00000338641_ENSE00001557625_11 100.0 100.0 53.81 chr22 29671825 29671948 123
NF2_ENST00000338641_ENSE00001327284_12 100.0 100.0 45.62 chr22 29673268 29673486 218
NF2_ENST00000338641_ENSE00003551311_13 100.0 100.0 41.12 chr22 29674835 29674941 106
NF2_ENST00000338641_ENSE00003641081_14 100.0 100.0 57.09 chr22 29678195 29678323 128
NF2_ENST00000338641_ENSE00003570003_15 100.0 100.0 52.14 chr22 29681438 29681601 163
NF2_ENST00000338641_ENSE00001641610_16 99.97 99.95 59.96 chr22 29694751 29698598 3847
FANCB_ENST00000650831_ENSE00003820343_10 100.0 100.0 65.89 chrX 14843404 14843981 577
FANCB_ENST00000650831_ENSE00003816604_9 100.0 100.0 75.95 chrX 14844502 14844740 238
FANCB_ENST00000650831_ENSE00003816179_8 100.0 100.0 77.48 chrX 14844855 14845286 431
FANCB_ENST00000650831_ENSE00003814774_7 100.0 100.0 85.84 chrX 14850504 14850674 170
FANCB_ENST00000650831_ENSE00003820710_6 100.0 100.0 72.98 chrX 14853038 14853167 129
FANCB_ENST00000650831_ENSE00003825397_5 100.0 100.0 68.08 chrX 14857861 14857954 93
FANCB_ENST00000650831_ENSE00003816583_4 100.0 100.0 59.12 chrX 14859181 14859334 153
FANCB_ENST00000650831_ENSE00003891693_3 100.0 100.0 60.17 chrX 14864559 14865580 1021
FANCB_ENST00000650831_ENSE00003967113_2 100.0 100.0 65.26 chrX 14868922 14869043 121
FANCB_ENST00000650831_ENSE00001830343_1 100.0 100.0 56.74 chrX 14872985 14873069 84
WAS_ENST00000376701_ENSE00001707442_1 100.0 100.0 57.34 chrX 48683798 48683985 187
WAS_ENST00000376701_ENSE00003539440_2 100.0 100.0 61.64 chrX 48684282 48684423 141
WAS_ENST00000376701_ENSE00003612781_3 100.0 100.0 65.28 chrX 48685546 48685633 87
WAS_ENST00000376701_ENSE00003547357_4 100.0 100.0 66.15 chrX 48685733 48685836 103
WAS_ENST00000376701_ENSE00003544043_5 100.0 100.0 66.36 chrX 48685945 48685987 42
WAS_ENST00000376701_ENSE00003543007_6 100.0 100.0 64.33 chrX 48686080 48686134 54
WAS_ENST00000376701_ENSE00003974199_7 100.0 100.0 58.98 chrX 48686780 48686955 175
WAS_ENST00000376701_ENSE00003974195_8 100.0 100.0 60.54 chrX 48688053 48688096 43
WAS_ENST00000376701_ENSE00003974200_9 100.0 100.0 57.44 chrX 48688299 48688453 154
WAS_ENST00000376701_ENSE00003974202_10 100.0 100.0 56.12 chrX 48688659 48689066 407
WAS_ENST00000376701_ENSE00003974203_11 100.0 100.0 55.68 chrX 48689319 48689434 115
WAS_ENST00000376701_ENSE00000867104_12 100.0 100.0 53.74 chrX 48691106 48691427 321
GATA1_ENST00000376670_ENSE00003967425_1 100.0 100.0 55.7 chrX 48786589 48786645 56
GATA1_ENST00000376670_ENSE00001471304_2 100.0 100.0 48.8 chrX 48791090 48791329 239
GATA1_ENST00000376670_ENSE00000670938_3 100.0 100.0 52.96 chrX 48791843 48792221 378
GATA1_ENST00000376670_ENSE00000670936_4 100.0 100.0 55.36 chrX 48792322 48792468 146
GATA1_ENST00000376670_ENSE00000670935_5 100.0 100.0 57.04 chrX 48793171 48793297 126
GATA1_ENST00000376670_ENSE00003967426_6 100.0 100.0 61.99 chrX 48793792 48794311 519
TSR2_ENST00000375151_ENSE00001465934_1 100.0 100.0 38.93 chrX 54440403 54440502 99
TSR2_ENST00000375151_ENSE00001039377_2 100.0 100.0 38.7 chrX 54440689 54440780 91
TSR2_ENST00000375151_ENSE00001039374_3 100.0 100.0 36.24 chrX 54443399 54443491 92
TSR2_ENST00000375151_ENSE00001039371_4 100.0 100.0 36.75 chrX 54444007 54444184 177
TSR2_ENST00000375151_ENSE00001465923_5 99.89 99.67 41.87 chrX 54444415 54448032 3617
SH2D1A_ENST00000371139_ENSE00001920695_1 100.0 100.0 47.06 chrX 124346562 124346779 217
SH2D1A_ENST00000371139_ENSE00003972756_2 100.0 100.0 54.45 chrX 124365760 124365824 64
SH2D1A_ENST00000371139_ENSE00001411506_3 100.0 100.0 51.65 chrX 124370175 124370320 145
SH2D1A_ENST00000371139_ENSE00001917567_4 100.0 99.94 52.41 chrX 124371350 124373160 1810
GPC3_ENST00000370818_ENSE00001921825_8 100.0 99.82 48.41 chrX 133535744 133536293 549
GPC3_ENST00000370818_ENSE00001153991_7 100.0 100.0 49.7 chrX 133596439 133596599 160
GPC3_ENST00000370818_ENSE00001153999_6 100.0 100.0 76.69 chrX 133661729 133661850 121
GPC3_ENST00000370818_ENSE00001154005_5 100.0 100.0 55.47 chrX 133692368 133692494 126
GPC3_ENST00000370818_ENSE00001154011_4 100.0 100.0 54.58 chrX 133699894 133700028 134
GPC3_ENST00000370818_ENSE00001154018_3 100.0 100.0 54.61 chrX 133753481 133754176 695
GPC3_ENST00000370818_ENSE00001636563_2 100.0 100.0 47.38 chrX 133953049 133953211 162
GPC3_ENST00000370818_ENSE00001811125_1 100.0 100.0 53.75 chrX 133985274 133985594 320
DKC1_ENST00000369550_ENSE00003967766_1 100.0 100.0 64.72 chrX 154762863 154762981 118
DKC1_ENST00000369550_ENSE00003967619_2 100.0 100.0 62.6 chrX 154764898 154764966 68
DKC1_ENST00000369550_ENSE00003967623_3 100.0 100.0 65.56 chrX 154765443 154765530 87
DKC1_ENST00000369550_ENSE00003967625_4 100.0 100.0 65.41 chrX 154765906 154765998 92
DKC1_ENST00000369550_ENSE00003967626_5 100.0 100.0 64.4 chrX 154766215 154766400 185
DKC1_ENST00000369550_ENSE00003967624_6 100.0 100.0 62.18 chrX 154766996 154767061 65
DKC1_ENST00000369550_ENSE00003967622_7 100.0 100.0 61.46 chrX 154767255 154767382 127
DKC1_ENST00000369550_ENSE00003967621_8 100.0 100.0 60.48 chrX 154768301 154768432 131
DKC1_ENST00000369550_ENSE00001635997_9 100.0 100.0 54.34 chrX 154769166 154769310 144
DKC1_ENST00000369550_ENSE00003967884_10 100.0 100.0 50.09 chrX 154770758 154770879 121
DKC1_ENST00000369550_ENSE00003967892_11 100.0 100.0 55.79 chrX 154773130 154773249 119
DKC1_ENST00000369550_ENSE00003967893_12 100.0 100.0 58.39 chrX 154774601 154774705 104
DKC1_ENST00000369550_ENSE00003499854_13 100.0 100.0 57.65 chrX 154775194 154775273 79
DKC1_ENST00000369550_ENSE00003648726_14 100.0 100.0 55.09 chrX 154776186 154776324 138
DKC1_ENST00000369550_ENSE00003967780_15 100.0 100.0 57.83 chrX 154776798 154777689 891
SRY_ENST00000383070_ENSE00001494622_1 0.0 0.0 0.0 chrY 2786854 2787682 828
Region Bases covered ≥20X (%) Bases covered ≥30X (%) Average coverage Chromosome Start position End position Length
KIF1B 99.98 99.91 57.62 chr1 10209570 10381603 172033
MAD2L2 99.98 99.91 51.62 chr1 11658918 11692811 33893
SDHB 100.0 99.99 59.26 chr1 17018664 17055032 36368
PADI6 99.99 99.95 48.37 chr1 17371196 17401699 30503
RPL11 100.0 99.98 50.94 chr1 23690742 23696835 6093
CSF3R 100.0 99.99 59.85 chr1 36466043 36484278 18235
MPL 99.96 99.88 48.75 chr1 43336818 43354466 17648
UROD 100.0 100.0 52.6 chr1 45009950 45015575 5625
MUTYH 99.98 99.94 47.82 chr1 45329163 45341893 12730
GFI1 99.98 99.96 45.75 chr1 92473043 92487925 14882
RPL5 99.95 99.92 51.69 chr1 92831013 92841924 10911
DPYD 99.98 99.97 61.33 chr1 97077743 97996000 918257
NRAS 100.0 99.98 56.72 chr1 114704469 114717771 13302
RPS27 100.0 100.0 46.69 chr1 153989762 153992155 2393
HAX1 99.98 99.91 49.42 chr1 154271355 154275875 4520
GBA1 100.0 99.96 50.45 chr1 155234452 155245699 11247
SDHC 99.97 99.96 60.57 chr1 161313381 161363206 49825
GPR161 99.99 99.96 58.55 chr1 168079542 168138667 59125
CDC73 99.99 99.97 58.28 chr1 193120983 193254815 133832
UBE2T 99.96 99.84 57.35 chr1 202331544 202342984 11440
FH 100.0 99.98 56.72 chr1 241497511 241520799 23288
RPS7 100.0 100.0 60.04 chr2 3574260 3580920 6660
ALK 99.96 99.93 55.79 chr2 29192774 29922586 729812
SOS1 99.97 99.94 57.99 chr2 38962206 39125345 163139
EPCAM 99.97 99.83 54.07 chr2 47344158 47387601 43443
MSH2 99.97 99.67 52.84 chr2 47387601 47664146 276545
MSH6 99.95 99.86 55.1 chr2 47694530 47810063 115533
RPS27A 100.0 100.0 55.4 chr2 55230903 55235853 4950
FANCL 99.98 99.95 59.24 chr2 58159243 58242410 83167
TMEM127 100.0 100.0 57.57 chr2 96248514 96266997 18483
RPL31 99.96 99.83 46.16 chr2 101001229 101024032 22803
ERCC3 99.98 99.95 54.79 chr2 127257290 127295166 37876
BARD1 99.95 99.93 57.34 chr2 214725646 214810683 85037
DIS3L2 99.94 99.86 55.36 chr2 231960245 232344350 384105
FANCD2 99.98 99.96 53.75 chr3 10025370 10101932 76562
VHL 99.98 99.91 54.34 chr3 10140778 10153667 12889
RAF1 99.94 99.87 59.46 chr3 12582101 12665201 83100
XPC 100.0 99.99 59.56 chr3 14145147 14179621 34474
RPL15 99.99 99.95 51.97 chr3 23915591 23924374 8783
MLH1 99.99 99.97 55.46 chr3 36987300 37051896 64596
COL7A1 100.0 100.0 55.68 chr3 48564073 48596329 32256
BAP1 99.96 99.95 60.45 chr3 52401008 52411008 10000
MITF 99.95 99.91 53.46 chr3 69738456 69968336 229880
GATA2 99.97 99.95 50.11 chr3 128479427 128494201 14774
MBD4 100.0 99.99 58.41 chr3 129430947 129441179 10232
ATR 99.98 99.94 57.71 chr3 142449007 142579733 130726
MECOM 99.98 99.96 57.48 chr3 169083499 169664775 581276
TERC 100.0 100.0 46.5 chr3 169764520 169766060 1540
PIK3CA 99.99 99.97 65.18 chr3 179147114 179240093 92979
RPL35A 100.0 99.99 60.13 chr3 197949190 197956610 7420
PHOX2B 100.0 99.89 40.57 chr4 41744082 41749725 5643
PDGFRA 99.96 99.95 61.34 chr4 54228280 54298245 69965
KIT 100.0 99.52 56.3 chr4 54656267 54740783 84516
SRP72 100.0 99.99 62.31 chr4 56466617 56503681 37064
REST 99.96 99.85 49.78 chr4 56906876 56966808 59932
ABRAXAS1 99.97 99.92 57.9 chr4 83459517 83524348 64831
NAF1 100.0 99.99 60.67 chr4 163110073 163167890 57817
PALLD 99.95 99.93 56.06 chr4 168496052 168928457 432405
SDHA 99.99 99.98 52.13 chr5 217303 257082 39779
TRIP13 98.83 98.54 51.65 chr5 891884 919357 27473
TERT 99.85 99.26 43.88 chr5 1250147 1296068 45921
DNAJC21 100.0 99.99 55.81 chr5 34928559 34958964 30405
MSH3 99.95 99.65 58.02 chr5 80653652 80876815 223163
APC 99.96 99.94 58.42 chr5 112706518 112846239 139721
RAD50 100.0 99.98 58.83 chr5 132555019 132646349 91330
CTNNA1 99.95 99.9 52.38 chr5 138609967 138935034 325067
SPINK1 100.0 100.0 64.9 chr5 147824572 147832671 8099
PDGFRB 100.0 99.97 48.22 chr5 150113839 150156872 43033
ITK 99.99 99.97 59.13 chr5 157141933 157255185 113252
NPM1 99.98 98.92 53.13 chr5 171386116 171411810 25694
NSD1 99.99 99.94 55.05 chr5 177130830 177300213 169383
DDX41 100.0 99.98 46.81 chr5 177511577 177517961 6384
NHP2 100.0 100.0 48.05 chr5 178149463 178154894 5431
SQSTM1 99.95 99.82 52.18 chr5 179805398 179838078 32680
HLA-A 99.82 99.81 48.39 chr6 29940260 29949572 9312
HLA-C 100.0 99.82 60.79 chr6 31268749 31273130 4381
HLA-B 99.97 99.95 65.37 chr6 31353872 31368067 14195
HLA-DRB1 99.96 99.64 44.72 chr6 32577902 32590848 12946
HLA-DQA1 99.97 99.43 48.4 chr6 32627179 32647062 19883
HLA-DQB1 99.98 99.69 45.73 chr6 32659467 32669383 9916
HLA-DPA1 100.0 100.0 55.83 chr6 33064569 33081775 17206
RPS10 100.0 99.99 58.06 chr6 34417454 34427069 9615
FANCE 100.0 99.99 66.02 chr6 35451338 35467104 15766
POLH 99.98 99.96 59.67 chr6 43575185 43620523 45338
TBXT 100.0 99.97 56.67 chr6 166157656 166169700 12044
PMS2 99.95 84.67 50.84 chr7 5970925 6015624 44699
PMS2CL 100.0 100.0 65.56 chr7 6734305 6751392 17087
IKZF1 99.99 99.99 57.12 chr7 50303068 50405101 102033
GRB10 99.95 99.92 56.1 chr7 50590063 50794462 204399
EGFR 99.97 99.58 56.39 chr7 55018017 55211628 193611
SBDS 99.99 99.96 53.02 chr7 66987680 66996693 9013
SAMD9 100.0 100.0 62.27 chr7 93099513 93119023 19510
SAMD9L 99.99 99.98 64.7 chr7 93130056 93149385 19329
RINT1 99.98 99.93 50.56 chr7 105531169 105567677 36508
MET 99.99 99.97 60.98 chr7 116671196 116798377 127181
CFTR 99.99 99.97 58.57 chr7 117286120 117715971 429851
POT1 99.98 99.94 61.46 chr7 124822386 124930983 108597
MEST 100.0 100.0 56.92 chr7 130485171 130506465 21294
BRAF 99.97 99.83 57.5 chr7 140719327 140925929 206602
PRSS1 100.0 100.0 53.06 chr7 142748468 142753072 4604
XRCC2 100.0 99.97 58.36 chr7 152644776 152677193 32417
WRN 99.97 99.94 58.65 chr8 31032788 31176138 143350
RPS20 99.93 99.9 66.04 chr8 56067254 56075510 8256
NBN 99.99 99.8 60.52 chr8 89924515 90004228 79713
RAD21 99.99 99.93 59.85 chr8 116845934 116875776 29842
EXT1 99.99 99.87 56.46 chr8 117794490 118112826 318336
NAPRT 99.96 98.33 46.99 chr8 143574785 143579649 4864
RECQL4 99.99 99.97 51.71 chr8 144511288 144518845 7557
DOCK8 99.98 99.95 61.63 chr9 213854 465259 251405
MTAP 100.0 99.99 55.34 chr9 21801636 21937651 136015
CDKN2A 99.99 99.96 54.72 chr9 21967752 21996301 28549
FANCG 100.0 99.99 54.12 chr9 35073835 35081004 7169
RMRP 100.0 100.0 41.22 chr9 35657754 35659017 1263
PAX5 99.97 99.63 52.33 chr9 36833269 37035268 201999
FANCC 99.97 99.95 55.66 chr9 95099054 95427796 328742
PTCH1 99.54 99.51 49.91 chr9 95442980 95518057 75077
ERCC6L2 99.99 99.95 56.56 chr9 95870264 96121154 250890
XPA 99.98 99.97 58.78 chr9 97674909 97698340 23431
GALNT12 100.0 99.99 48.4 chr9 98806670 98850081 43411
ELP1 99.98 99.94 55.64 chr9 108866898 108935328 68430
TSC1 99.99 99.97 58.32 chr9 132891348 132947874 56526
ANKRD26 99.99 99.97 56.31 chr10 26973793 27101494 127701
RET 99.99 99.95 50.95 chr10 43076064 43130351 54287
ARID5B 99.87 99.85 60.49 chr10 61900684 62096944 196260
PRF1 99.97 99.97 56.95 chr10 70597348 70603759 6411
RPS24 100.0 99.98 54.38 chr10 78032760 78056813 24053
BMPR1A 99.98 99.95 58.86 chr10 86755596 86932825 177229
KLLN 99.98 99.98 63.64 chr10 87859158 87864533 5375
PTEN 99.99 99.97 60.89 chr10 87861638 87971930 110292
FAS 99.95 99.64 56.17 chr10 88952813 89029605 76792
SUFU 99.97 99.9 53.58 chr10 102502972 102633535 130563
STN1 99.95 99.92 55.36 chr10 103856806 103919332 62526
SHOC2 99.97 99.97 59.83 chr10 110918367 111017307 98940
HRAS 100.0 99.9 45.26 chr11 532242 538321 6079
H19 99.98 99.64 37.16 chr11 1995166 2005552 10386
IGF2 99.97 98.47 43.61 chr11 2129112 2159391 30279
KCNQ1 99.98 98.82 52.8 chr11 2443654 2849105 405451
KCNQ1OT1 99.99 99.96 53.14 chr11 2597308 2701003 103695
CDKN1C 100.0 99.97 54.35 chr11 2883213 2886775 3562
CTR9 99.95 99.93 60.68 chr11 10750246 10801625 51379
FANCF 100.0 100.0 56.49 chr11 22622533 22626823 4290
ISCA-37401_WAGR_region 99.91 99.84 55.88 chr11 31781961 32490442 708481
PAX6 99.93 99.86 52.17 chr11 31790709 31827961 37252
WT1 99.98 99.94 49.03 chr11 32387775 32436564 48789
EXT2 99.98 99.96 57.51 chr11 44094648 44251962 157314
DDB2 99.98 99.92 54.87 chr11 47213465 47239217 25752
SDHAF2 99.98 99.97 56.77 chr11 61429042 61446733 17691
MEN1 99.9 99.87 54.01 chr11 64803510 64812294 8784
AIP 99.98 99.92 45.39 chr11 67467174 67491154 23980
MRE11 100.0 99.99 60.93 chr11 94415570 94494885 79315
ATM 99.98 99.96 58.48 chr11 108222044 108369102 147058
SDHD 100.0 99.97 58.73 chr11 112085824 112120016 34192
HMBS 99.94 99.88 59.82 chr11 119083866 119093834 9968
CBL 99.98 99.94 58.17 chr11 119205298 119313926 108628
ETV6 99.91 99.89 61.38 chr12 11648674 11895377 246703
CDKN1B 99.94 99.91 55.75 chr12 12684498 12722369 37871
KRAS 99.95 99.91 56.37 chr12 25205246 25251936 46690
RPS26 99.98 99.88 46.01 chr12 56040351 56044697 4346
CDK4 100.0 100.0 56.32 chr12 57747727 57757013 9286
SH2B3 99.98 99.95 51.2 chr12 111404923 111451623 46700
PTPN11 99.99 99.97 55.0 chr12 112417351 112509918 92567
ZCCHC8 99.92 99.9 53.98 chr12 122471600 122501932 30332
POLE 99.91 99.86 53.12 chr12 132623753 132688376 64623
BRCA2 99.96 99.95 58.48 chr13 32265086 32451268 186182
RB1 99.98 99.96 60.76 chr13 48302744 48599436 296692
ERCC5 99.99 99.99 64.39 chr13 102844831 102875995 31164
LIG4 100.0 100.0 61.23 chr13 108207439 108219368 11929
TINF2 100.0 99.94 44.06 chr14 24238286 24243663 5377
FANCM 99.99 99.98 60.82 chr14 45134930 45200890 65960
RPS29 99.97 99.95 55.21 chr14 49570984 49600164 29180
MAX 99.96 99.88 57.29 chr14 65006174 65103695 97521
RAD51B 99.97 99.82 57.05 chr14 67818779 68730218 911439
MLH3 99.98 99.91 54.94 chr14 75013769 75052532 38763
DICER1 99.99 99.96 56.14 chr14 95086228 95159010 72782
ATG2B 99.97 99.92 59.48 chr14 96279195 96364341 85146
GSKIP 99.99 99.97 56.74 chr14 96362452 96387288 24836
AKT1 99.97 99.94 46.44 chr14 104769349 104796751 27402
FAN1 99.96 99.94 56.26 chr15 30889559 30943108 53549
GREM1 99.97 99.88 48.37 chr15 32717270 32746106 28836
NOP10 99.98 99.94 53.75 chr15 34339159 34344180 5021
SPRED1 99.94 99.92 60.85 chr15 38251836 38357249 105413
BUB1B 99.99 99.97 63.28 chr15 40160023 40221123 61100
RAD51 99.98 99.88 49.89 chr15 40693774 40732340 38566
MAP2K1 99.97 99.87 54.99 chr15 66385837 66491656 105819
EFL1 99.99 99.96 56.67 chr15 82130206 82263773 133567
RPS17 100.0 99.96 42.18 chr15 82536750 82541459 4709
FANCI 99.99 99.98 58.91 chr15 89242945 89317261 74316
BLM 99.97 99.92 57.32 chr15 90716346 90816166 99820
NTHL1 100.0 100.0 52.54 chr16 2039815 2048866 9051
TSC2 99.94 87.03 37.96 chr16 2046967 2089491 42524
SLX4 99.99 99.98 55.08 chr16 3581181 3612606 31425
ERCC4 100.0 99.99 57.09 chr16 13919138 13952348 33210
PARN 99.98 99.94 54.56 chr16 14435700 14633728 198028
PALB2 99.99 99.96 51.68 chr16 23603160 23642321 39161
CYLD 99.94 99.93 64.56 chr16 50741050 50801935 60885
ACD 100.0 100.0 46.7 chr16 67657512 67661810 4298
CDH1 99.98 99.92 52.27 chr16 68736292 68835537 99245
RFWD3 99.99 99.92 54.29 chr16 74621399 74667877 46478
TERF2IP 99.98 99.96 55.84 chr16 75646773 75761872 115099
FANCA 99.97 97.67 47.97 chr16 89726683 89817977 91294
MC1R 100.0 99.93 46.2 chr16 89911119 89920973 9854
RPA1 99.96 99.94 56.67 chr17 1828702 1900082 71380
TP53 99.96 99.92 54.69 chr17 7661779 7712372 50593
WRAP53 99.98 99.96 59.6 chr17 7685071 7703502 18431
CTC1 99.94 99.87 62.33 chr17 8224815 8249058 24243
RPL26 99.93 99.87 54.06 chr17 8377516 8384213 6697
DNAH9 99.87 99.83 53.41 chr17 11597470 11969748 372278
FLCN 99.97 99.93 48.65 chr17 17212212 17238188 25976
NF1 99.96 99.94 58.78 chr17 31093927 31382116 288189
RAD51D 99.98 99.93 49.92 chr17 35092221 35122522 30301
RPL23 99.96 99.88 52.82 chr17 38847860 38854764 6904
CDK12 99.66 99.54 51.95 chr17 39460486 39567559 107073
SMARCE1 99.99 99.96 56.41 chr17 40624962 40649654 24692
STAT3 99.99 99.98 56.73 chr17 42313324 42389540 76216
BRCA1 99.99 99.97 54.94 chr17 42994295 43221245 226950
RPL27 99.98 99.98 60.22 chr17 42997273 43002959 5686
G6PC3 100.0 99.97 61.76 chr17 44069620 44082151 12531
HOXB13 100.0 100.0 51.09 chr17 48724763 48729750 4987
RNF43 99.99 99.97 60.06 chr17 58353676 58418595 64919
RAD51C 99.99 99.95 55.03 chr17 58691573 58735611 44038
TRIM37 99.94 99.91 57.86 chr17 58982638 59107921 125283
PPM1D 100.0 99.99 63.93 chr17 60599193 60666280 67087
BRIP1 99.97 99.94 57.1 chr17 61679139 61864559 185420
AXIN2 99.96 99.92 58.08 chr17 65528563 65562648 34085
PRKAR1A 99.99 99.97 58.67 chr17 68510780 68551319 40539
RHBDF2 99.84 98.28 38.3 chr17 76470891 76502790 31899
FAAP100 99.76 89.11 41.59 chr17 81539885 81554961 15076
SETBP1 99.97 99.94 56.89 chr18 44679173 45068510 389337
SMAD4 100.0 99.98 55.7 chr18 51027528 51085045 57517
ELANE 99.58 95.96 42.2 chr19 850014 856247 6233
STK11 97.01 95.93 47.26 chr19 1176558 1228431 51873
MAP2K2 99.92 99.58 49.97 chr19 4090321 4125122 34801
RPL36 99.99 99.96 49.1 chr19 5673947 5691875 17928
RPS28 100.0 100.0 60.04 chr19 8320158 8323340 3182
SMARCA4 99.98 99.89 47.05 chr19 10959932 11079426 119494
CEBPA 100.0 99.97 44.48 chr19 33299934 33303534 3600
RPS19 99.96 99.94 56.33 chr19 41859255 41872925 13670
ERCC2 99.88 99.82 48.84 chr19 45349837 45371918 22081
ERCC1 99.93 99.84 48.92 chr19 45407334 45479828 72494
POLD1 99.92 98.66 50.98 chr19 50383204 50418018 34814
NLRP7 99.97 95.18 46.89 chr19 54923509 54967312 43803
NLRP2 99.92 95.59 45.32 chr19 54952130 55001142 49012
NLRP5 99.92 99.77 49.35 chr19 55998726 56061810 63084
TRIM28 100.0 99.95 48.58 chr19 58543064 58550722 7658
L3MBTL1 99.98 99.94 55.86 chr20 43488442 43550954 62512
RTEL1 98.87 96.31 46.81 chr20 63656810 63696253 39443
RUNX1 99.97 99.93 56.8 chr21 34787801 36005667 1217866
LZTR1 99.79 99.76 48.32 chr22 20981269 20999032 17763
SMARCB1 99.95 99.91 54.52 chr22 23785931 23838009 52078
CHEK2 99.99 99.97 57.33 chr22 28687743 28743422 55679
NF2 99.99 99.95 55.02 chr22 29602556 29698598 96042
FANCB 99.96 99.95 58.38 chrX 14690388 14874255 183867
WAS 100.0 99.99 55.16 chrX 48675596 48691431 15835
GATA1 99.99 99.97 53.96 chrX 48785540 48794311 8771
TSR2 99.95 99.76 38.53 chrX 54439404 54448032 8628
SH2D1A 99.92 99.76 54.13 chrX 124226868 124373197 146329
GPC3 99.99 99.98 56.62 chrX 133535745 133988100 452355
DKC1 99.99 99.96 57.47 chrX 154761742 154777689 15947
SRY 0.0 0.0 0.0 chrY 2786855 2788682 1827

Regions below target coverage

The table below displays targets in BED files provided to the workflow which have mean coverage below 30x.

Region Bases covered ≥20X (%) Bases covered ≥30X (%) Average coverage Chromosome Start position End position Length
PMS2_ENST00000265849_ENSE00001848489_15 99.81 1.95 27.02 chr7 5970924 5973542 2618
PMS2_ENST00000265849_ENSE00001608691_14 100.0 29.41 29.04 chr7 5977587 5977757 170
TSC2_ENST00000219476_ENSE00000873729_4 100.0 0.0 23.33 chr16 2053341 2053452 111
TSC2_ENST00000219476_ENSE00003516607_5 100.0 0.0 27.53 chr16 2054295 2054440 145
TSC2_ENST00000219476_ENSE00003645603_33 100.0 0.0 25.11 chr16 2083694 2083816 122
TSC2_ENST00000219476_ENSE00003569705_34 100.0 0.0 25.33 chr16 2084227 2084715 488
TSC2_ENST00000219476_ENSE00003590475_35 100.0 0.0 27.38 chr16 2084950 2085026 76
TSC2_ENST00000219476_ENSE00004013616_36 100.0 0.0 28.27 chr16 2085229 2085322 93
TSC2_ENST00000219476_ENSE00003655946_39 100.0 0.0 25.92 chr16 2087862 2087941 79
TSC2_ENST00000219476_ENSE00003603845_40 100.0 0.0 26.51 chr16 2088047 2088139 92
TSC2_ENST00000219476_ENSE00003656176_41 100.0 0.0 26.52 chr16 2088226 2088325 99
FAAP100_ENST00000327787_ENSE00003522275_5 100.0 0.0 25.46 chr17 81546908 81547678 770
RTEL1_ENST00000360203_ENSE00003689639_29 100.0 13.57 28.7 chr20 63692804 63693003 199
RTEL1_ENST00000360203_ENSE00003608421_30 100.0 0.0 25.86 chr20 63693142 63693283 141
SRY_ENST00000383070_ENSE00001494622_1 0.0 0.0 0.0 chrY 2786854 2787682 828
Region Bases covered ≥20X (%) Bases covered ≥30X (%) Average coverage Chromosome Start position End position Length
SRY 0.0 0.0 0.0 chrY 2786855 2788682 1827

Software versions

Name Version
mosdepth 0.3.7
minimap2 2.28-r1209

Workflow parameters

Key Value
out_dir /home/usuario/epi2melabs/instances/wf-hereditary-cancer_01M2GGC8ZRPEP156W9D3WKNMV7/output
sv True
snp True
str False
mod True
bam_min_coverage 10
depth_window_size 25000
annotation False
phased True
include_all_ctgs False
output_report True
haplocheck False
igv True
cluster_merge_pos 150
min_sv_length 30
sv_benchmark False
ref_pct_full 0.1
var_pct_full 0.7
snp_min_af 0.08
indel_min_af 0.15
min_cov 2
min_mq 5
min_qual 2
min_contig_size 0
refine_snp_with_sv True
force_strand False
depth_intervals False
GVCF False
base_err 0.001
gq_bin_size 5
downsample_coverage False
downsample_coverage_target 60
downsample_coverage_margin 1.1
output_xam_fmt bam
alignment_report_coverage_threshold 30
threads 4
ubam_map_threads 8
ubam_sort_threads 3
ubam_bam2fq_threads 1
modkit_threads 4
sample_name OMICS_14
bam /var/lib/minknow/data/20260902/HCP_sample_4_5_6/20260902_1532_P2S-03417-B_PBM52225_4f92217b/bam_pass/barcode05
store_dir /home/usuario/epi2melabs/data
sv_benchmark_vcf None
sv_benchmark_bed None
coverage_bed /home/usuario/epi2melabs/data/nanoporetech/wf-hereditary-cancer-coverage-bed/1/HCP_Exon.bed
ref /home/usuario/epi2melabs/data/nanoporetech/wf-hereditary-cancer-ref/1/HCP_hg38_alt.masked.fasta
bed /home/usuario/epi2melabs/data/nanoporetech/wf-hereditary-cancer-bed/1/HCP_Gene.bed
sex None
mitogenome None
override_basecaller_cfg None
clair3_model_path None
ctg_name None
vcf_fn None
tr_bed None
min_read_support auto
min_read_support_limit 2
sniffles_args None
modkit_args None
partner None