regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32418972 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0022 | 1 | 126 | 0.0079 | -8 | c.407 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452416 | GGAAAGGG others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02976.hp2 others(1): Show |
a0002a0005a0018 | a0002c0020a0005c0007a0005c0057others(1): Show | a0002c0020t0028a0005c0007t0002a0005c0057t0001others(1): Show | a0002c0020t0028g0010a0005c0007t0002g0093a0005c0057t0001g0109others(1): Show | 4 | 126 | 0.0318 | -8 | c.360 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32456578 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 |
a0003a0027 | a0003c0014a0027c0058 | a0003c0014t0010a0027c0058t0019 | a0003c0014t0010g0015a0027c0058t0019g0116 | 2 | 126 | 0.0159 | -8 | c.343 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 25/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32485769 | GTCTCGCT others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0018 | a0018c0061 | a0018c0061t0001 | a0018c0061t0001g0003 | 1 | 126 | 0.0079 | -8 | c.262 others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 20/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32529379 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01255.hp1 others(36): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0022others(22): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0001others(27): Show | a0001c0001t0001g0054a0001c0001t0001g0076a0001c0001t0001g0080others(36): Show | 39 | 126 | 0.3095 | -8 | c.216 others(29): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554878 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0087 | 1 | 126 | 0.0079 | -8 | c.199 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554965 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0014 | a0003c0014t0010 | a0003c0014t0010g0015 | 1 | 126 | 0.0079 | -8 | c.199 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32558938 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01192.hp1 others(29): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0002c0009others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(29): Show | 32 | 126 | 0.2540 | -8 | c.199 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32585699 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01515.hp1 others(1): Show |
a0001a0008a0015others(1): Show | a0001c0002a0008c0010a0015c0043others(1): Show | a0001c0002t0002a0008c0010t0001a0015c0043t0001others(1): Show | a0001c0002t0002g0056a0008c0010t0001g0044a0015c0043t0001g0112others(1): Show | 4 | 126 | 0.0318 | -8 | c.160 others(29): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32606736 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01074.hp1 others(38): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0054others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(30): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0037others(38): Show | 41 | 126 | 0.3254 | -8 | c.148 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 12/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32641407 | CGTATATA others(1): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG03098.hp1 HG03225.hp1 |
a0002a0003 | a0002c0009a0002c0020a0003c0014 | a0002c0009t0001a0002c0020t0028a0003c0014t0010 | a0002c0009t0001g0065a0002c0020t0028g0010a0003c0014t0010g0015 | 3 | 126 | 0.0238 | -8 | c.133 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32641408 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02451.hp2 others(1): Show |
a0002a0003 | a0002c0024a0002c0052a0003c0003others(1): Show | a0002c0024t0011a0002c0052t0025a0003c0003t0027others(1): Show | a0002c0024t0011g0016a0002c0052t0025g0095a0003c0003t0027g0091others(1): Show | 4 | 126 | 0.0318 | -8 | c.133 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32661371 | TATTGTCT others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02723.hp1 others(1): Show |
a0002a0003a0017others(1): Show | a0002c0024a0003c0008a0017c0027others(1): Show | a0002c0024t0011a0003c0008t0012a0017c0027t0001others(1): Show | a0002c0024t0011g0016a0003c0008t0012g0117a0017c0027t0001g0124others(1): Show | 4 | 126 | 0.0318 | -8 | c.961 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32755055 | GACTGTAA others(1): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0100 | 1 | 126 | 0.0079 | -8 | c.649 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32759852 | GGGGGGGG others(1): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp1 HG03139.hp1 others(4): Show |
a0002a0003a0005others(1): Show | a0002c0012a0002c0020a0003c0014others(4): Show | a0002c0012t0002a0002c0020t0030a0003c0014t0010others(4): Show | a0002c0012t0002g0098a0002c0020t0030g0125a0003c0014t0010g0015others(4): Show | 7 | 126 | 0.0556 | -8 | c.649 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32783216 | ATATACGT others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0016 | 1 | 126 | 0.0079 | -8 | c.649 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32787241 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA19085.hp1 |
a0001a0032 | a0001c0001a0032c0036 | a0001c0001t0013a0032c0036t0004 | a0001c0001t0013g0012a0032c0036t0004g0011 | 2 | 126 | 0.0159 | -8 | c.649 others(27): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32806201 | AAGACACA others(1): Show |
A | intron_variant | MODIFIER | NA18966.hp1 NA18989.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0032a0004c0004t0001g0006 | 2 | 126 | 0.0159 | -8 | c.649 others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32831649 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02132.hp1 NA18940.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0012a0005c0007others(1): Show | a0001c0001t0001a0002c0012t0002a0005c0007t0007others(1): Show | a0001c0001t0001g0080a0002c0012t0002g0122a0005c0007t0007g0063others(1): Show | 4 | 126 | 0.0318 | -8 | c.265 others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32844414 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0002c0009others(24): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(35): Show | a0001c0001t0002g0024a0001c0001t0002g0032a0001c0001t0004g0101others(37): Show | 40 | 126 | 0.3175 | -8 | c.264 others(23): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32859461 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02293.hp1 HG02738.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0008a0001c0001t0013a0001c0002t0001others(6): Show | a0001c0001t0008g0021a0001c0001t0013g0012a0001c0002t0001g0025others(6): Show | 9 | 126 | 0.0714 | -8 | c.94- others(23): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32863537 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02056.hp1 HG02132.hp1 others(26): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0002c0005others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(21): Show | a0001c0001t0001g0037a0001c0001t0001g0054a0001c0001t0001g0069others(26): Show | 29 | 126 | 0.2302 | -8 | c.94- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32870981 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01255.hp1 others(27): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0002c0009others(18): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(23): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0008g0021others(27): Show | 30 | 126 | 0.2381 | -8 | c.94- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887745 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp1 |
a0002a0003 | a0002c0026a0003c0014 | a0002c0026t0006a0003c0014t0010 | a0002c0026t0006g0111a0003c0014t0010g0015 | 2 | 126 | 0.0159 | -8 | c.94- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32902150 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02723.hp2 NA18522.hp1 |
a0002a0032 | a0002c0009a0002c0020a0032c0036 | a0002c0009t0001a0002c0020t0030a0032c0036t0004 | a0002c0009t0001g0065a0002c0020t0030g0125a0032c0036t0004g0011 | 3 | 126 | 0.0238 | -8 | c.94- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32902158 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | NA18988.hp1 NA19085.hp1 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0013a0004c0011t0002 | a0001c0001t0013g0012a0004c0011t0002g0035 | 2 | 126 | 0.0159 | -8 | c.94- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32949251 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01258.hp1 others(19): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0054others(14): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(16): Show | a0001c0001t0001g0069a0001c0001t0001g0080a0001c0001t0013g0012others(19): Show | 22 | 126 | 0.1746 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32949338 | GTAGGTAG others(1): Show |
G | intron_variant | MODIFIER | HG02976.hp1 NA18522.hp1 |
a0002 | a0002c0009a0002c0020 | a0002c0009t0002a0002c0020t0030 | a0002c0009t0002g0002a0002c0020t0030g0125 | 2 | 126 | 0.0159 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32949342 | GTAGATAG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG02015.hp1 others(18): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0054others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(15): Show | a0001c0001t0001g0062a0001c0001t0001g0069a0001c0002t0001g0074others(18): Show | 21 | 126 | 0.1667 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32960916 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 126 | 0.0079 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32980368 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02922.hp1 |
a0003a0005a0032 | a0003c0008a0005c0007a0032c0036 | a0003c0008t0012a0005c0007t0002a0032c0036t0004 | a0003c0008t0012g0117a0005c0007t0002g0093a0032c0036t0004g0011 | 3 | 126 | 0.0238 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32983568 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG04115.hp1 HG04204.hp1 |
a0009a0015 | a0009c0013a0015c0056 | a0009c0013t0022a0015c0056t0021 | a0009c0013t0022g0066a0015c0056t0021g0045 | 2 | 126 | 0.0159 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32998608 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01928.hp1 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0013others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(10): Show | 13 | 126 | 0.1032 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009252 | ATGTGTAT others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009275 | CATATGTG others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01074.hp1 others(40): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0005others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(27): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0001g0069others(40): Show | 43 | 126 | 0.3413 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009394 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009460 | ACACATAT others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02738.hp1 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0003c0008t0012 | a0001c0002t0001g0025a0003c0008t0012g0117 | 2 | 126 | 0.0159 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009580 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 126 | 0.0079 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009628 | GTATGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01928.hp1 HG01952.hp1 others(9): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0013others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(9): Show | 12 | 126 | 0.0952 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009697 | TGTGTATA others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33010022 | GTGTGTAC others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01069.hp1 others(41): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0002c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(28): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0001g0069others(41): Show | 44 | 126 | 0.3492 | -8 | c.93+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33026313 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 HG02976.hp2 others(4): Show |
a0002a0005a0006others(4): Show | a0002c0009a0005c0057a0006c0032others(4): Show | a0002c0009t0002a0005c0057t0001a0006c0032t0003others(4): Show | a0002c0009t0002g0002a0005c0057t0001g0109a0006c0032t0003g0077others(4): Show | 7 | 126 | 0.0556 | -8 | c.32- others(23): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33070671 | CTCTATAT others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18990.hp1 |
a0002 | a0002c0016a0002c0052 | a0002c0016t0009a0002c0052t0025 | a0002c0016t0009g0014a0002c0052t0025g0095 | 2 | 126 | 0.0159 | -8 | c.32- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33070673 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02717.hp1 HG03209.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0026a0004c0011others(2): Show | a0001c0001t0002a0001c0001t0008a0002c0026t0006others(3): Show | a0001c0001t0002g0032a0001c0001t0008g0021a0002c0026t0006g0111others(3): Show | 6 | 126 | 0.0476 | -8 | c.32- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33073832 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02922.hp2 others(6): Show |
a0002a0003a0014others(2): Show | a0002c0012a0002c0020a0002c0052others(6): Show | a0002c0012t0002a0002c0020t0030a0002c0052t0025others(6): Show | a0002c0012t0002g0098a0002c0020t0030g0125a0002c0052t0025g0095others(6): Show | 9 | 126 | 0.0714 | -8 | c.32- others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33125023 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | -8 | c.31+ others(25): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79061220 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02965.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0005others(1): Show | a0001c0001t0001a0001c0013t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0088a0001c0001t0001g0181others(5): Show | 8 | 372 | 0.0215 | -8 | c.276 others(25): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02080.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0004a0001c0002t0008a0001c0003t0002others(4): Show | a0001c0002t0004g0198a0001c0002t0008g0068a0001c0003t0002g0159others(5): Show | 9 | 430 | 0.0209 | -8 | c.-22 others(25): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMP1_chr4_87645280_87669357 | 87661204 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02723.hp2 others(4): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0009a0001c0002t0019a0001c0009t0009 | a0001c0002t0009g0012a0001c0002t0019g0067a0001c0009t0009g0012 | 7 | 430 | 0.0163 | -8 | c.184 others(23): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMP1_chr4_87645280_87669357 | 87665256 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(44): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0003t0002others(3): Show | a0001c0002t0003g0116a0001c0002t0004g0003a0001c0002t0004g0006others(22): Show | 47 | 430 | 0.1093 | -8 | c.*19 others(19): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 900 | chr4 | TogoVar |