view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLC1_chr8_13078361_13519851 | 13496786 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02523.hp1 HG02622.hp1 others(3): Show |
a0003a0007a0019 | a0003c0003a0007c0009a0007c0016others(2): Show | a0003c0003t0004a0007c0009t0006a0007c0016t0005others(3): Show | a0003c0003t0004g0155 a0007c0009t0006g0137 a0007c0016t0005g0004 others(3): Show |
6 | 136 | 0.0441 | -7 | c.102 others(26): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLD_chr7_107886183_107926198 | 107902197 | TATTTTAG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(120): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(66): Show |
123 | 404 | 0.3045 | -7 | c.199 others(22): Show |
DLD | ENSG00000091140.15 | transcript | ENST00000205402.10 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38041847 | CAAAAAAA | C | intron_variant | MODIFIER | HG03834.hp1 NA18955.hp1 NA18970.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 others(5): Show |
8 | 270 | 0.0296 | -7 | c.411 others(24): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197067551 | GTTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(100): Show |
a0001a0010a0011others(1): Show | a0001c0001a0001c0004a0010c0016others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(100): Show |
103 | 189 | 0.5450 | -7 | c.204 others(24): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 19/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197127458 | ATATATAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG03927.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0301 a0002c0002t0003g0321 a0002c0002t0003g0327 others(1): Show |
4 | 317 | 0.0126 | -7 | c.116 others(26): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 11/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197301279 | TAAAAAAA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00639.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0049 a0001c0001t0001g0105 a0001c0001t0001g0284 others(19): Show |
22 | 26 | 0.8462 | -7 | c.-27 others(18): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 2668 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83633938 | ACAAAAAG | A | intron_variant | MODIFIER | HG01884.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0012 a0001c0001t0011g0013 |
2 | 14 | 0.1429 | -7 | c.182 others(24): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83753877 | TATATATC | T | intron_variant | MODIFIER | HG02717.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 |
2 | 14 | 0.1429 | -7 | c.182 others(28): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83825171 | ATTTTTTT | A | intron_variant | MODIFIER | HG02717.hp2 NA18522.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0002g0001 a0001c0001t0003g0003 |
3 | 5 | 0.6000 | -7 | c.172 others(26): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 17/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83937507 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0011 | a0001c0001t0008g0004 a0001c0001t0010g0014 a0001c0001t0011g0013 |
3 | 5 | 0.6000 | -7 | c.134 others(26): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 14/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84518277 | GTTTTACC | G | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0006 a0001c0001t0004g0005 a0001c0001t0005g0011 others(2): Show |
5 | 14 | 0.3571 | -7 | c.519 others(26): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85007664 | CAAAAAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0006 a0001c0001t0003g0003 a0001c0001t0008g0004 |
3 | 9 | 0.3333 | -7 | c.357 others(28): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | |||||||
DLG4_chr17_7182187_7222627 | 7211831 | GGGGGGGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(68): Show | a0001c0001t0001g0099 a0001c0001t0001g0289 a0001c0001t0004g0330 others(87): Show |
94 | 376 | 0.2500 | -7 | c.31- others(22): Show |
DLG4 | ENSG00000132535.22 | transcript | ENST00000399506.9 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
DLG5_chr10_77785791_77931755 | 77828862 | GCTCCAGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(85): Show |
a0001a0003a0008others(5): Show | a0001c0001a0001c0002a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0028a0001c0002t0002others(19): Show | a0001c0001t0001g0197 a0001c0001t0028g0323 a0001c0002t0002g0042 others(85): Show |
88 | 330 | 0.2667 | -7 | c.228 others(22): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 13/31 | chr10 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3568305 | GATAAACT | G | intron_variant | MODIFIER | HG02486.hp2 NA19043.hp1 |
a0001 | a0001c0006 | a0001c0006t0005a0001c0006t0013 | a0001c0006t0005g0007 a0001c0006t0013g0073 |
2 | 80 | 0.0250 | -7 | c.196 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3672577 | CAAAAAAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0041a0001c0002t0011others(5): Show | a0001c0001t0004g0016 a0001c0001t0041g0079 a0001c0002t0011g0013 others(5): Show |
8 | 38 | 0.2105 | -7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3677651 | CTTTTTCT | C | intron_variant | MODIFIER | HG02280.hp2 HG03453.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0012 a0001c0004t0002g0035 |
2 | 80 | 0.0250 | -7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3787480 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(44): Show |
47 | 54 | 0.8704 | -7 | c.117 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3818346 | GTTTTTTT | G | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0014a0001c0002t0029others(3): Show | a0001c0001t0002g0017 a0001c0002t0014g0064 a0001c0002t0029g0032 others(3): Show |
6 | 13 | 0.4615 | -7 | c.958 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3821288 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG02258.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0008others(9): Show | a0001c0001t0018g0046 a0001c0002t0001g0039 a0001c0002t0008g0037 others(10): Show |
13 | 27 | 0.4815 | -7 | c.958 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3834347 | GATTAATC | G | intron_variant | MODIFIER | HG01433.hp1 HG02257.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0044 a0001c0001t0003g0059 a0001c0001t0003g0067 others(7): Show |
10 | 80 | 0.1250 | -7 | c.958 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3848127 | CAAAAAAA | C | intron_variant | MODIFIER | HG02155.hp2 HG02572.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0037a0001c0002t0034others(1): Show | a0001c0001t0004g0026 a0001c0001t0037g0063 a0001c0002t0034g0069 others(1): Show |
4 | 19 | 0.2105 | -7 | c.957 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3973290 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0031a0001c0002t0034others(1): Show | a0001c0001t0003g0071 a0001c0001t0003g0076 a0001c0002t0031g0061 others(2): Show |
5 | 13 | 0.3846 | -7 | c.-73 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4004361 | GCTACCCC | G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG02486.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(12): Show | a0001c0001t0003g0076 a0001c0001t0004g0019 a0001c0001t0012g0054 others(12): Show |
15 | 80 | 0.1875 | -7 | c.-73 others(22): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4027503 | CAAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0001g0044 a0001c0001t0003g0068 a0001c0001t0003g0071 others(9): Show |
12 | 19 | 0.6316 | -7 | c.-15 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4305472 | TGCAGTGA | T | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG01496.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0047 a0001c0001t0003g0059 a0001c0001t0003g0068 others(28): Show |
31 | 80 | 0.3875 | -7 | c.-26 others(30): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4354887 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01192.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0004g0019 others(11): Show |
14 | 19 | 0.7368 | -7 | c.-26 others(30): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 881492 | CTCTCTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG01496.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0023a0001c0003t0001a0001c0010t0025others(2): Show | a0001c0002t0023g0005 a0001c0003t0001g0026 a0001c0010t0025g0012 others(2): Show |
5 | 38 | 0.1316 | -7 | c.19- others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1537061 | CTGGTATG | C | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01361.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0011others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(20): Show | a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0003t0001g0026 others(24): Show |
27 | 39 | 0.6923 | -7 | c.173 others(26): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36525248 | AAAAAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0018 | a0001c0001t0002g0043 a0001c0001t0002g0055 a0001c0001t0002g0142 others(2): Show |
5 | 142 | 0.0352 | -7 | c.260 others(24): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39506211 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG02698.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015 a0003c0003t0001g0031 a0003c0003t0001g0059 |
6 | 95 | 0.0632 | -7 | c.109 others(24): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DLL3_chr19_39493947_39513469 | 39510557 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0001g0121 others(20): Show |
34 | 48 | 0.7083 | -7 | c.*23 others(18): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 2089 | chr19 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122565607 | GTCAATGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(192): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0023others(40): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(48): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0125 others(170): Show |
195 | 280 | 0.6964 | -7 | c.62- others(20): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1/55 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC | T | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG03017.hp2 others(7): Show |
a0001a0006a0007others(1): Show | a0001c0002a0001c0046a0006c0004others(2): Show | a0001c0002t0003a0001c0046t0003a0006c0004t0003others(2): Show | a0001c0002t0003g0129 a0001c0002t0003g0132 a0001c0002t0003g0179 others(7): Show |
10 | 249 | 0.0402 | -7 | c.654 others(26): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634414 | TCTCTCTC | T | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp1 HG01928.hp1 others(3): Show |
a0001a0006a0011others(2): Show | a0001c0002a0006c0004a0011c0012others(2): Show | a0001c0002t0001a0006c0004t0001a0011c0012t0001others(2): Show | a0001c0002t0001g0113 a0006c0004t0001g0130 a0011c0012t0001g0090 others(3): Show |
6 | 240 | 0.0250 | -7 | c.654 others(26): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634449 | TCTCTCTC | T | intron_variant | MODIFIER | HG00423.hp2 HG02080.hp1 HG02165.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0023a0002c0007a0003c0003others(2): Show | a0001c0023t0001a0002c0007t0001a0003c0003t0001others(2): Show | a0001c0023t0001g0151 a0002c0007t0001g0225 a0002c0007t0001g0230 others(8): Show |
12 | 280 | 0.0429 | -7 | c.654 others(26): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634474 | CTCTCTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 NA18983.hp2 |
a0001a0002a0044 | a0001c0048a0002c0040a0044c0034 | a0001c0048t0002a0002c0040t0002a0044c0034t0002 | a0001c0048t0002g0167 a0002c0040t0002g0218 a0044c0034t0002g0048 |
3 | 280 | 0.0107 | -7 | c.654 others(26): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38520862 | CTTTTTTG | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 others(4): Show |
7 | 322 | 0.0217 | -7 | c.953 others(22): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31162356 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02965.hp1 others(2): Show |
a0002a0003a0005others(1): Show | a0002c0020a0002c0051a0003c0008others(2): Show | a0002c0020t0012a0002c0051t0003a0003c0008t0002others(2): Show | a0002c0020t0012g0121 a0002c0051t0003g0091 a0003c0008t0002g0125 others(2): Show |
5 | 15 | 0.3333 | -7 | c.105 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31198023 | TAAAAAAA | T | intron_variant | MODIFIER | HG00609.hp1 HG01952.hp1 HG02015.hp1 others(28): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0002c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0050 others(28): Show |
31 | 62 | 0.5000 | -7 | c.980 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31447260 | ATTTTTTT | A | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02071.hp1 others(2): Show |
a0001a0004 | a0001c0002a0004c0004a0004c0012others(1): Show | a0001c0002t0001a0004c0004t0001a0004c0012t0001others(1): Show | a0001c0002t0001g0100 a0001c0002t0001g0114 a0004c0004t0001g0084 others(2): Show |
5 | 26 | 0.1923 | -7 | c.893 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31857380 | GAAAAAAA | G | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG02027.hp1 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(13): Show | a0001c0001t0001g0050 a0001c0001t0001g0071 a0001c0002t0001g0068 others(16): Show |
19 | 58 | 0.3276 | -7 | c.709 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32033646 | AAAGAAAG | A | intron_variant | MODIFIER | HG01261.hp1 HG02083.hp1 HG02451.hp1 others(5): Show |
a0001a0002a0006others(5): Show | a0001c0002a0002c0016a0006c0006others(5): Show | a0001c0002t0001a0002c0016t0001a0006c0006t0001others(5): Show | a0001c0002t0001g0068 a0002c0016t0001g0057 a0006c0006t0001g0044 others(5): Show |
8 | 112 | 0.0714 | -7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32132993 | CTTTTTTT | C | intron_variant | MODIFIER | HG04228.hp1 NA18959.hp1 NA18960.hp1 others(1): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0004t0002others(1): Show | a0001c0001t0001g0076 a0001c0002t0001g0114 a0004c0004t0002g0083 others(1): Show |
4 | 16 | 0.2500 | -7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32151725 | ATTGTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG00738.hp1 others(27): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0002c0005others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0010others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0082 others(27): Show |
30 | 126 | 0.2381 | -7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32214224 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(86): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0021others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0001g0034 others(86): Show |
89 | 105 | 0.8476 | -7 | c.643 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32261907 | GTTGTAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp1 others(14): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0005others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0076 a0001c0001t0003g0035 others(14): Show |
17 | 126 | 0.1349 | -7 | c.629 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32280158 | ATATACAG | A | intron_variant | MODIFIER | HG03710.hp1 HG03942.hp1 NA18944.hp1 others(3): Show |
a0001a0029 | a0001c0001a0001c0002a0029c0040 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0003g0016 others(3): Show |
6 | 126 | 0.0476 | -7 | c.629 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32419873 | AAGCATTG | A | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01255.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(26): Show | a0001c0001t0001g0033 a0001c0001t0002g0029 a0001c0002t0001g0114 others(28): Show |
31 | 126 | 0.2460 | -7 | c.407 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32529379 | CTTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01261.hp1 others(7): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0005a0003c0008others(6): Show | a0001c0001t0003a0001c0001t0006a0002c0005t0001others(7): Show | a0001c0001t0003g0016 a0001c0001t0006g0097 a0002c0005t0001g0017 others(7): Show |
10 | 11 | 0.9091 | -7 | c.216 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar |