Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000377050 [[29523291, 29524127], [29527451, 29527702]] [[29523656, 29524127], [29527451, 29527478]]
NM_006398 [[29523388, 29524127], [29527451, 29527702]] [[29523656, 29524127], [29527451, 29527478]]
NM_006398 [[826900, 827639], [830964, 831215]] [[827168, 827639], [830964, 830991]]
NM_006398 [[1042198, 1042937], [1046261, 1046512]] [[1042466, 1042937], [1046261, 1046288]]
NM_006398 [[826739, 827478], [830802, 831053]] [[827007, 827478], [830802, 830829]]
NM_006398 [[826600, 827339], [830663, 830914]] [[826868, 827339], [830663, 830690]]
NM_006398 [[826706, 827445], [830770, 831021]] [[826974, 827445], [830770, 830797]]
NM_006398 [[826390, 827129], [830454, 830705]] [[826658, 827129], [830454, 830481]]
Promoter
Chrom Start End Description
chr6 29527501 29527515 CAGE_peak_1_at_UBD_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I029845 29845424 29845653 0.9 [{'connected_gene': 'MDC1', 'score': 77.32}, {'connected_gene': 'HCG18', 'score': 72.18}, {'connected_gene': 'ZNF311', 'score': 68.26}, {'connected_gene': 'HLA-H', 'score': 42.71}, {'connected_gene': 'PPP1R10', 'score': 27.41}, {'connected_gene': 'HLA-A', 'score': 25.13}, {'connected_gene': 'PRR3', 'score': 23.11}, {'connected_gene': 'HCG4', 'score': 20.36}, {'connected_gene': 'ZNRD1ASP', 'score': 19.31}, {'connected_gene': 'TRIM39', 'score': 17.91}, {'connected_gene': 'GABBR1', 'score': 17.5}, {'connected_gene': 'GNL1', 'score': 12.71}, {'connected_gene': 'PAIP1P1', 'score': 12.06}, {'connected_gene': 'ATAT1', 'score': 11.93}, {'connected_gene': 'HLA-K', 'score': 11.09}, {'connected_gene': 'TRIM31-AS1', 'score': 10.65}, {'connected_gene': 'TRIM31', 'score': 10.65}, {'connected_gene': 'ETF1P1', 'score': 10.64}, {'connected_gene': 'HCG4B', 'score': 10.57}, {'connected_gene': 'DHX16', 'score': 10.36}, {'connected_gene': 'HCG17', 'score': 10.26}, {'connected_gene': 'TRIM26', 'score': 9.91}, {'connected_gene': 'HLA-L', 'score': 9.8}, {'connected_gene': 'MICF', 'score': 0.44}, {'connected_gene': 'HCGVIII-2', 'score': 0.39}, {'connected_gene': 'GC06M029612', 'score': 0.2}]
chr6 GH06I029603 29603104 29603273 0.6 [{'connected_gene': 'OR2H2', 'score': 0.37}, {'connected_gene': 'GABBR1', 'score': 0.29}]
chr6 GH06I028954 28954968 28957015 0.85 [{'connected_gene': 'TRIM27', 'score': 40.62}, {'connected_gene': 'ZFP57', 'score': 12.28}, {'connected_gene': 'HCG15', 'score': 11.55}, {'connected_gene': 'ENSG00000244349', 'score': 11.55}, {'connected_gene': 'HCG14', 'score': 11.33}, {'connected_gene': 'SUMO2P1', 'score': 9.07}, {'connected_gene': 'GABBR1', 'score': 9.07}, {'connected_gene': 'HCG4P7', 'score': 5.23}, {'connected_gene': 'HLA-U', 'score': 4.53}, {'connected_gene': 'LINC01556', 'score': 4.23}, {'connected_gene': 'ZNF602P', 'score': 3.87}, {'connected_gene': 'TRM-CAT3-2', 'score': 0.77}, {'connected_gene': 'KRT18P1', 'score': 0.39}]
chr6 GH06I029789 29789623 29793513 1.35 [{'connected_gene': 'HCG4', 'score': 605.79}, {'connected_gene': 'HLA-V', 'score': 550.77}, {'connected_gene': 'HLA-H', 'score': 25.21}, {'connected_gene': 'ZNRD1', 'score': 22.84}, {'connected_gene': 'HLA-A', 'score': 22.51}, {'connected_gene': 'HLA-T', 'score': 21.04}, {'connected_gene': 'ZNRD1ASP', 'score': 18.05}, {'connected_gene': 'HCG4P3', 'score': 13.61}, {'connected_gene': 'ZFP57', 'score': 10.64}, {'connected_gene': 'TRIM31-AS1', 'score': 10.62}, {'connected_gene': 'TRIM31', 'score': 10.62}, {'connected_gene': 'GABBR1', 'score': 9.58}, {'connected_gene': 'SUMO2P1', 'score': 9.58}, {'connected_gene': 'HLA-F', 'score': 9.18}, {'connected_gene': 'HLA-G', 'score': 8.71}, {'connected_gene': 'MICE', 'score': 6.21}, {'connected_gene': 'GC06M029612', 'score': 0.13}]
chr6 GH06I029600 29600694 29600864 0.34 [{'connected_gene': 'MOG', 'score': 1.71}, {'connected_gene': 'GABBR1', 'score': 1.51}, {'connected_gene': 'OR2H2', 'score': 0.37}]
chr6 GH06I029976 29976104 29977805 1.73 [{'connected_gene': 'MICD', 'score': 569.93}, {'connected_gene': 'HCG9', 'score': 550.77}, {'connected_gene': 'HLA-J', 'score': 32.97}, {'connected_gene': 'HCG4P3', 'score': 30.57}, {'connected_gene': 'HLA-K', 'score': 28.04}, {'connected_gene': 'ZFP57', 'score': 27.28}, {'connected_gene': 'HLA-H', 'score': 26.42}, {'connected_gene': 'ZNRD1', 'score': 26.03}, {'connected_gene': 'HLA-A', 'score': 23.66}, {'connected_gene': 'HCG4P7', 'score': 20.27}, {'connected_gene': 'HCG4', 'score': 17.53}, {'connected_gene': 'ZNRD1ASP', 'score': 10.83}, {'connected_gene': 'GABBR1', 'score': 9.57}, {'connected_gene': 'SUMO2P1', 'score': 9.57}, {'connected_gene': 'HLA-W', 'score': 7.3}, {'connected_gene': 'MICE', 'score': 5.88}, {'connected_gene': 'DDX39BP2', 'score': 0.37}]
chr6 GH06I030324 30324655 30328200 2.28 [{'connected_gene': 'HCG18', 'score': 591.21}, {'connected_gene': 'TRIM39', 'score': 550.77}, {'connected_gene': 'HCG17', 'score': 550.77}, {'connected_gene': 'RPL23AP1', 'score': 15.16}, {'connected_gene': 'MICD', 'score': 12.08}, {'connected_gene': 'GABBR1', 'score': 11.09}, {'connected_gene': 'HLA-E', 'score': 10.93}, {'connected_gene': 'GTF2H4', 'score': 10.54}, {'connected_gene': 'VARS2', 'score': 9.96}, {'connected_gene': 'ZNRD1ASP', 'score': 9.92}, {'connected_gene': 'HLA-C', 'score': 9.91}, {'connected_gene': 'GNL1', 'score': 9.8}, {'connected_gene': 'ZFP57', 'score': 8.16}, {'connected_gene': 'HLA-G', 'score': 7.06}]
chr6 GH06I029630 29630201 29630800 0.31 [{'connected_gene': 'HLA-U', 'score': 5.72}, {'connected_gene': 'GABBR1', 'score': 0.77}, {'connected_gene': 'OR2H2', 'score': 0.25}, {'connected_gene': 'GC06M029612', 'score': 0.06}]
chr6 GH06I029622 29622616 29626000 0.88 [{'connected_gene': 'ZFP57', 'score': 15.13}, {'connected_gene': 'ZNRD1ASP', 'score': 11.88}, {'connected_gene': 'HLA-H', 'score': 5.38}, {'connected_gene': 'HCG4P5', 'score': 5.37}, {'connected_gene': 'HLA-W', 'score': 5.09}, {'connected_gene': 'HLA-U', 'score': 4.3}, {'connected_gene': 'GABBR1', 'score': 0.44}, {'connected_gene': 'OR2H2', 'score': 0.28}, {'connected_gene': 'GC06M029612', 'score': 0.06}]
chr6 GH06I029672 29672327 29674030 0.76 [{'connected_gene': 'ZFP57', 'score': 54.6}, {'connected_gene': 'ZNRD1ASP', 'score': 45.36}, {'connected_gene': 'ZNF311', 'score': 37.58}, {'connected_gene': 'HCG18', 'score': 27.69}, {'connected_gene': 'PPP1R10', 'score': 27.11}, {'connected_gene': 'HCG4P7', 'score': 26.35}, {'connected_gene': 'PAIP1P1', 'score': 24.53}, {'connected_gene': 'TRIM39', 'score': 24.51}, {'connected_gene': 'HLA-H', 'score': 24.21}, {'connected_gene': 'GABBR1', 'score': 22.21}, {'connected_gene': 'ETF1P1', 'score': 21.62}, {'connected_gene': 'DHX16', 'score': 17.45}, {'connected_gene': 'TRIM26', 'score': 14.32}, {'connected_gene': 'MICD', 'score': 14.16}, {'connected_gene': 'ZNRD1', 'score': 13.69}, {'connected_gene': 'HLA-F-AS1', 'score': 13.58}, {'connected_gene': 'HLA-W', 'score': 13.38}, {'connected_gene': 'MICE', 'score': 12.65}, {'connected_gene': 'ATAT1', 'score': 11.37}, {'connected_gene': 'HLA-U', 'score': 11.29}, {'connected_gene': 'ABCF1', 'score': 11.23}, {'connected_gene': 'SUMO2P1', 'score': 11.15}, {'connected_gene': 'TRIM27', 'score': 10.82}, {'connected_gene': 'HCG17', 'score': 10.73}, {'connected_gene': 'HCG4P3', 'score': 10.57}, {'connected_gene': 'HLA-J', 'score': 10.38}, {'connected_gene': 'HLA-K', 'score': 10.14}, {'connected_gene': 'GNL1', 'score': 9.76}, {'connected_gene': 'MOG', 'score': 0.37}, {'connected_gene': 'GC06M029612', 'score': 0.07}]
chr6 GH06I029660 29660833 29664077 0.66 [{'connected_gene': 'ZFP57', 'score': 54.47}, {'connected_gene': 'IFITM4P', 'score': 21.49}, {'connected_gene': 'HLA-A', 'score': 18.63}, {'connected_gene': 'HCG4P5', 'score': 13.79}, {'connected_gene': 'SUMO2P1', 'score': 11.35}, {'connected_gene': 'GABBR1', 'score': 11.35}, {'connected_gene': 'HLA-K', 'score': 9.97}, {'connected_gene': 'MICD', 'score': 5.83}, {'connected_gene': 'MOG', 'score': 0.44}, {'connected_gene': 'GC06M029612', 'score': 0.07}]
chr6 GH06I029553 29553201 29554160 0.98 [{'connected_gene': 'ZFP57', 'score': 13.16}, {'connected_gene': 'LINC01015', 'score': 10.76}, {'connected_gene': 'HCG4P3', 'score': 5.72}, {'connected_gene': 'HLA-J', 'score': 5.17}, {'connected_gene': 'HLA-K', 'score': 4.42}, {'connected_gene': 'LOC105375009', 'score': 4.35}, {'connected_gene': 'OR2I1P', 'score': 0.77}, {'connected_gene': 'UBD', 'score': 0.44}]
chr6 GH06I029665 29665598 29668693 0.66 [{'connected_gene': 'IFITM4P', 'score': 21.62}, {'connected_gene': 'HLA-A', 'score': 13.94}, {'connected_gene': 'HCG4P5', 'score': 13.38}, {'connected_gene': 'ZFP57', 'score': 12.34}, {'connected_gene': 'HLA-H', 'score': 12.05}, {'connected_gene': 'HLA-J', 'score': 12.03}, {'connected_gene': 'SUMO2P1', 'score': 11.17}, {'connected_gene': 'GABBR1', 'score': 11.17}, {'connected_gene': 'ZNRD1ASP', 'score': 9.62}, {'connected_gene': 'HLA-G', 'score': 9.34}, {'connected_gene': 'MICE', 'score': 8.16}, {'connected_gene': 'HCG4P3', 'score': 5.6}, {'connected_gene': 'MICD', 'score': 5.23}, {'connected_gene': 'ABCF1', 'score': 5.09}, {'connected_gene': 'MOG', 'score': 0.39}, {'connected_gene': 'GC06M029612', 'score': 0.07}]
chr6 GH06I029552 29552618 29552877 0.94 [{'connected_gene': 'IFITM4P', 'score': 4.82}, {'connected_gene': 'UBD', 'score': 4.64}, {'connected_gene': 'LOC105375009', 'score': 4.35}, {'connected_gene': 'HLA-F', 'score': 2.69}, {'connected_gene': 'HLA-A', 'score': 1.23}, {'connected_gene': 'OR2I1P', 'score': 0.77}]
chr6 GH06I029477 29477816 29478379 0.53 [{'connected_gene': 'MAS1L', 'score': 17.13}, {'connected_gene': 'OR12D3', 'score': 10.93}, {'connected_gene': 'OR5V1', 'score': 10.87}, {'connected_gene': 'UBD', 'score': 10.54}, {'connected_gene': 'LINC01015', 'score': 10.29}, {'connected_gene': 'OR2H2', 'score': 10.03}, {'connected_gene': 'OR14J1', 'score': 1.65}, {'connected_gene': 'MAS1LP1', 'score': 0.77}, {'connected_gene': 'LOC105375008', 'score': 0.77}]
chr6 GH06I029626 29626159 29629435 2.21 [{'connected_gene': 'GABBR1', 'score': 550.44}, {'connected_gene': 'TRIM39', 'score': 36.46}, {'connected_gene': 'ZNRD1', 'score': 28.79}, {'connected_gene': 'ABCF1', 'score': 22.52}, {'connected_gene': 'PAIP1P1', 'score': 21.19}, {'connected_gene': 'ETF1P1', 'score': 19.85}, {'connected_gene': 'PPP1R10', 'score': 16.3}, {'connected_gene': 'HLA-H', 'score': 16.16}, {'connected_gene': 'TRIM26', 'score': 13.17}, {'connected_gene': 'ZFP57', 'score': 12.75}, {'connected_gene': 'GNL1', 'score': 12.33}, {'connected_gene': 'HCG4P3', 'score': 12.01}, {'connected_gene': 'OR2H2', 'score': 9.89}, {'connected_gene': 'ZNF311', 'score': 9.84}, {'connected_gene': 'HLA-J', 'score': 7.47}, {'connected_gene': 'HLA-U', 'score': 4.3}, {'connected_gene': 'GC06M029612', 'score': 0.06}]
chr6 GH06I029559 29559744 29559753 0.57 [{'connected_gene': 'UBD', 'score': 550.77}, {'connected_gene': 'OR2I1P', 'score': 0.44}, {'connected_gene': 'GABBR1', 'score': 0.19}]
chr6 GH06I029559 29559744 29559753 0.57 [{'connected_gene': 'UBD', 'score': 550.77}, {'connected_gene': 'OR2I1P', 'score': 0.44}, {'connected_gene': 'GABBR1', 'score': 0.19}]
chr6 GH06I029631 29631102 29634904 1.99 [{'connected_gene': 'GABBR1', 'score': 550.77}, {'connected_gene': 'ZNRD1', 'score': 28.79}, {'connected_gene': 'TRIM39', 'score': 28.34}, {'connected_gene': 'PAIP1P1', 'score': 21.19}, {'connected_gene': 'HLA-H', 'score': 18.66}, {'connected_gene': 'PPP1R10', 'score': 16.3}, {'connected_gene': 'TRIM26', 'score': 13.17}, {'connected_gene': 'GNL1', 'score': 12.33}, {'connected_gene': 'HCG4P3', 'score': 12.01}, {'connected_gene': 'ETF1P1', 'score': 11.58}, {'connected_gene': 'ABCF1', 'score': 10.93}, {'connected_gene': 'OR2H2', 'score': 9.87}, {'connected_gene': 'HLA-U', 'score': 6.88}, {'connected_gene': 'MICE', 'score': 4.36}, {'connected_gene': 'GC06M029612', 'score': 0.06}]
chr6 GH06I030162 30162370 30165161 1.51 [{'connected_gene': 'TRIM10', 'score': 550.77}, {'connected_gene': 'TRIM15', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 161.69}, {'connected_gene': 'GTF2H4', 'score': 119.37}, {'connected_gene': 'HCG18', 'score': 107.07}, {'connected_gene': 'ZNRD1ASP', 'score': 96.85}, {'connected_gene': 'PPP1R10', 'score': 73.27}, {'connected_gene': 'TRIM39', 'score': 72.64}, {'connected_gene': 'ETF1P1', 'score': 63.36}, {'connected_gene': 'PAIP1P1', 'score': 60.79}, {'connected_gene': 'DHX16', 'score': 58.05}, {'connected_gene': 'HLA-U', 'score': 53.35}, {'connected_gene': 'HCG4P7', 'score': 48.03}, {'connected_gene': 'TRIM26', 'score': 43.7}, {'connected_gene': 'TCF19', 'score': 42.07}, {'connected_gene': 'CCHCR1', 'score': 41.89}, {'connected_gene': 'ATAT1', 'score': 37.59}, {'connected_gene': 'HLA-H', 'score': 31.17}, {'connected_gene': 'GNL1', 'score': 31.11}, {'connected_gene': 'ABCF1', 'score': 30.18}, {'connected_gene': 'ZNRD1', 'score': 29.88}, {'connected_gene': 'HLA-F-AS1', 'score': 24.83}, {'connected_gene': 'HLA-K', 'score': 24.72}, {'connected_gene': 'HCG17', 'score': 23.42}, {'connected_gene': 'MICD', 'score': 23.0}, {'connected_gene': 'MICE', 'score': 21.61}, {'connected_gene': 'PRR3', 'score': 20.88}, {'connected_gene': 'ENSG00000272540', 'score': 20.38}, {'connected_gene': 'HLA-W', 'score': 13.4}, {'connected_gene': 'NRM', 'score': 12.52}, {'connected_gene': 'TRIM31', 'score': 11.96}, {'connected_gene': 'TRIM31-AS1', 'score': 11.95}, {'connected_gene': 'HCG9P5', 'score': 11.55}, {'connected_gene': 'GABBR1', 'score': 11.09}, {'connected_gene': 'RPP21', 'score': 10.99}, {'connected_gene': 'HCG4P3', 'score': 10.61}, {'connected_gene': 'HLA-J', 'score': 10.42}, {'connected_gene': 'SUMO2P1', 'score': 9.66}, {'connected_gene': 'RPL23AP1', 'score': 6.08}, {'connected_gene': 'TRIM40', 'score': 4.51}]
chr6 GH06I028795 28795601 28796400 1.28 [{'connected_gene': 'TRA-AGC1-1', 'score': 550.77}, {'connected_gene': 'GC06M028798', 'score': 550.77}, {'connected_gene': 'ZSCAN12', 'score': 28.07}, {'connected_gene': 'ZSCAN23', 'score': 23.81}, {'connected_gene': 'PGBD1', 'score': 23.51}, {'connected_gene': 'GABBR1', 'score': 17.45}, {'connected_gene': 'ZSCAN26', 'score': 13.26}, {'connected_gene': 'ZKSCAN8', 'score': 12.3}, {'connected_gene': 'ZFP57', 'score': 11.07}, {'connected_gene': 'ZKSCAN4', 'score': 10.84}, {'connected_gene': 'ZSCAN31', 'score': 10.43}, {'connected_gene': 'SUMO2P1', 'score': 9.88}, {'connected_gene': 'ZNF603P', 'score': 5.78}, {'connected_gene': 'RN7SL471P', 'score': 5.3}, {'connected_gene': 'ZNF311', 'score': 5.02}, {'connected_gene': 'ZNF602P', 'score': 3.87}, {'connected_gene': 'TRF-GAA1-1', 'score': 0.44}, {'connected_gene': 'GC06P028492', 'score': 0.06}]
chr6 GH06I028709 28709002 28711120 1.24 [{'connected_gene': 'TRA-AGC5-1', 'score': 550.77}, {'connected_gene': 'GC06P028712', 'score': 550.77}, {'connected_gene': 'ZKSCAN4', 'score': 46.95}, {'connected_gene': 'ZSCAN12', 'score': 45.18}, {'connected_gene': 'ZKSCAN8', 'score': 37.8}, {'connected_gene': 'ZKSCAN3', 'score': 29.57}, {'connected_gene': 'ZSCAN23', 'score': 29.2}, {'connected_gene': 'ZSCAN9', 'score': 28.74}, {'connected_gene': 'TRIM27', 'score': 23.77}, {'connected_gene': 'PGBD1', 'score': 23.52}, {'connected_gene': 'GABBR1', 'score': 17.45}, {'connected_gene': 'ZSCAN31', 'score': 15.55}, {'connected_gene': 'ZSCAN26', 'score': 13.28}, {'connected_gene': 'SUMO2P1', 'score': 9.89}, {'connected_gene': 'ZNF603P', 'score': 7.09}, {'connected_gene': 'GC06M028697', 'score': 0.39}, {'connected_gene': 'TRA-CGC5-1', 'score': 0.39}, {'connected_gene': 'GC06P028492', 'score': 0.08}]
chr6 GH06I028836 28836824 28836873 0.62 [{'connected_gene': 'GC06M028898', 'score': 550.77}, {'connected_gene': 'TRA-AGC2-1', 'score': 550.77}, {'connected_gene': 'LINC01556', 'score': 11.9}, {'connected_gene': 'HCG14', 'score': 11.19}, {'connected_gene': 'TRIM27', 'score': 11.13}, {'connected_gene': 'ZKSCAN4', 'score': 10.84}, {'connected_gene': 'SUMO2P1', 'score': 10.02}, {'connected_gene': 'GABBR1', 'score': 10.02}, {'connected_gene': 'GC06M028916', 'score': 0.44}, {'connected_gene': 'GC06P028492', 'score': 0.05}]
chr6 GH06I028837 28836964 28836973 0.62 [{'connected_gene': 'GC06M028898', 'score': 550.77}, {'connected_gene': 'TRA-AGC2-1', 'score': 550.77}, {'connected_gene': 'LINC01556', 'score': 11.9}, {'connected_gene': 'HCG14', 'score': 11.19}, {'connected_gene': 'TRIM27', 'score': 11.13}, {'connected_gene': 'ZKSCAN4', 'score': 10.84}, {'connected_gene': 'SUMO2P1', 'score': 10.02}, {'connected_gene': 'GABBR1', 'score': 10.02}, {'connected_gene': 'GC06M028916', 'score': 0.44}, {'connected_gene': 'GC06P028492', 'score': 0.05}]
chr6 GH06I028838 28837200 28839800 1.62 [{'connected_gene': 'ENSG00000225173', 'score': 550.77}, {'connected_gene': 'TRA-AGC2-1', 'score': 550.77}, {'connected_gene': 'GC06M028898', 'score': 550.77}, {'connected_gene': 'TRIM27', 'score': 50.77}, {'connected_gene': 'ZKSCAN4', 'score': 37.94}, {'connected_gene': 'ZSCAN12', 'score': 37.0}, {'connected_gene': 'ZKSCAN3', 'score': 24.24}, {'connected_gene': 'ZSCAN23', 'score': 23.81}, {'connected_gene': 'ZKSCAN8', 'score': 22.3}, {'connected_gene': 'SUMO2P1', 'score': 19.88}, {'connected_gene': 'LINC01556', 'score': 16.42}, {'connected_gene': 'PGBD1', 'score': 13.73}, {'connected_gene': 'ZSCAN26', 'score': 13.26}, {'connected_gene': 'ZSCAN9', 'score': 12.63}, {'connected_gene': 'ZFP57', 'score': 11.66}, {'connected_gene': 'HCG14', 'score': 11.19}, {'connected_gene': 'ZSCAN31', 'score': 10.43}, {'connected_gene': 'GABBR1', 'score': 10.02}, {'connected_gene': 'ZNF602P', 'score': 5.45}, {'connected_gene': 'HLA-G', 'score': 4.15}, {'connected_gene': 'GC06M028916', 'score': 0.39}, {'connected_gene': 'GC06P028492', 'score': 0.05}]

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