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 | 31242262 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp1 |
a0002a0004 | a0002c0005a0004c0004 | a0002c0005t0001a0004c0004t0001 | a0002c0005t0001g0049a0004c0004t0001g0041 | 2 | 126 | 0.0159 | 7 | c.928 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 63/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31266159 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01934.hp1 others(6): Show |
a0001a0004a0010others(4): Show | a0001c0001a0004c0004a0010c0051others(4): Show | a0001c0001t0001a0001c0001t0026a0004c0004t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0026g0039others(6): Show | 9 | 126 | 0.0714 | 7 | c.922 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31293193 | T | TGTGTGTG | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0092 | 1 | 126 | 0.0079 | 7 | c.922 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31321583 | C | CAAAAAAA | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 126 | 0.0079 | 7 | c.922 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31321607 | A | AAAGAAAG | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG03139.hp1 |
a0001a0005 | a0001c0001a0005c0045 | a0001c0001t0002a0001c0001t0004a0005c0045t0018 | a0001c0001t0002g0024a0001c0001t0004g0101a0005c0045t0018g0118 | 3 | 126 | 0.0238 | 7 | c.922 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31347001 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG02647.hp1 HG03098.hp1 others(3): Show |
a0001a0002a0030 | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0007others(3): Show | a0001c0001t0001g0008a0001c0002t0001g0115a0002c0005t0007g0092others(3): Show | 6 | 126 | 0.0476 | 7 | c.916 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31366470 | C | CAAAAAAA | intron_variant | MODIFIER | HG02922.hp2 NA18959.hp1 NA19000.hp1 others(2): Show |
a0001a0007a0010others(2): Show | a0001c0002a0007c0018a0010c0031others(2): Show | a0001c0002t0001a0007c0018t0001a0010c0031t0001others(2): Show | a0001c0002t0001g0115a0007c0018t0001g0068a0010c0031t0001g0096others(2): Show | 5 | 126 | 0.0397 | 7 | c.908 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31412206 | A | AAAGAGAG | intron_variant | MODIFIER | HG02976.hp2 HG03209.hp1 |
a0002a0005 | a0002c0026a0005c0057 | a0002c0026t0006a0005c0057t0001 | a0002c0026t0006g0111a0005c0057t0001g0109 | 2 | 126 | 0.0159 | 7 | c.908 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31473711 | C | CAAAAAAA | intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 |
a0022a0032 | a0022c0025a0032c0036 | a0022c0025t0006a0032c0036t0004 | a0022c0025t0006g0108a0032c0036t0004g0011 | 2 | 126 | 0.0159 | 7 | c.893 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31571254 | G | GTGTGTGT | intron_variant | MODIFIER | NA19066.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0061 | 1 | 126 | 0.0079 | 7 | c.821 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31648617 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 NA18747.hp1 NA19012.hp1 |
a0001a0003a0006 | a0001c0001a0003c0008a0006c0006 | a0001c0001t0001a0003c0008t0015a0006c0006t0001 | a0001c0001t0001g0090a0003c0008t0015g0123a0006c0006t0001g0001 | 3 | 126 | 0.0238 | 7 | c.802 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31703209 | A | AACTCTTT | intron_variant | MODIFIER | HG02145.hp1 | a0029 | a0029c0044 | a0029c0044t0014 | a0029c0044t0014g0094 | 1 | 126 | 0.0079 | 7 | c.766 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 52/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGGTGTGT | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0016 | 1 | 126 | 0.0079 | 7 | c.720 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GTGTGTGT | intron_variant | MODIFIER | NA18944.hp1 NA18962.hp1 |
a0001a0026 | a0001c0001a0026c0042 | a0001c0001t0001a0026c0042t0024 | a0001c0001t0001g0084a0026c0042t0024g0070 | 2 | 126 | 0.0159 | 7 | c.720 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31833343 | G | GGAGGGAA | intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0096 | 1 | 126 | 0.0079 | 7 | c.720 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31943928 | A | AGAGAGAG | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp1 |
a0001a0007 | a0001c0002a0007c0019 | a0001c0002t0001a0007c0019t0001 | a0001c0002t0001g0105a0007c0019t0001g0052 | 2 | 126 | 0.0159 | 7 | c.661 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31961740 | G | GTTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG02976.hp2 |
a0005a0008 | a0005c0057a0008c0010 | a0005c0057t0001a0008c0010t0001 | a0005c0057t0001g0109a0008c0010t0001g0044 | 2 | 126 | 0.0159 | 7 | c.661 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32033642 | A | AAAGAAAG | intron_variant | MODIFIER | HG02056.hp1 HG02723.hp2 HG03490.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0005a0004c0011others(1): Show | a0001c0001t0001a0002c0005t0001a0004c0011t0001others(1): Show | a0001c0001t0001g0026a0002c0005t0001g0022a0004c0011t0001g0085others(1): Show | 4 | 126 | 0.0318 | 7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32178982 | C | CTCTCTCT | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32197000 | A | AAAAAAAC | intron_variant | MODIFIER | HG01934.hp1 NA18940.hp1 |
a0004a0005 | a0004c0004a0005c0007 | a0004c0004t0001a0005c0007t0007 | a0004c0004t0001g0087a0005c0007t0007g0063 | 2 | 126 | 0.0159 | 7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32199780 | T | TGTGTGTG | intron_variant | MODIFIER | NA19062.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0086 | 1 | 126 | 0.0079 | 7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32394911 | A | ACAAAAAC | intron_variant | MODIFIER | HG04199.hp1 | a0012 | a0012c0048 | a0012c0048t0001 | a0012c0048t0001g0057 | 1 | 126 | 0.0079 | 7 | c.423 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32418972 | C | CAAAAAAA | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 |
a0002a0005 | a0002c0020a0005c0007 | a0002c0020t0028a0005c0007t0002 | a0002c0020t0028g0010a0005c0007t0002g0093 | 2 | 126 | 0.0159 | 7 | c.407 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32485734 | C | CTTTTTTT | intron_variant | MODIFIER | HG03579.hp1 NA18944.hp1 NA18971.hp1 others(1): Show |
a0002a0011a0026 | a0002c0012a0002c0016a0011c0049others(1): Show | a0002c0012t0002a0002c0016t0001a0011c0049t0001others(1): Show | a0002c0012t0002g0098a0002c0016t0001g0060a0011c0049t0001g0073others(1): Show | 4 | 126 | 0.0318 | 7 | c.262 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 20/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554835 | A | AAGGTAAG | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01258.hp1 others(17): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0002c0016others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(12): Show | a0001c0001t0001g0054a0001c0001t0001g0076a0001c0001t0001g0080others(17): Show | 20 | 126 | 0.1587 | 7 | c.199 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554839 | A | AAGGTAAG | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 | 1 | 126 | 0.0079 | 7 | c.199 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG02132.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0008a0001c0001t0001g0080a0003c0003t0001g0027 | 3 | 126 | 0.0238 | 7 | c.133 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32649558 | T | TAAAAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 |
a0003 | a0003c0003a0003c0008 | a0003c0003t0027a0003c0008t0023 | a0003c0003t0027g0091a0003c0008t0023g0005 | 2 | 126 | 0.0159 | 7 | c.961 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32679902 | C | CTTTTTTT | intron_variant | MODIFIER | HG02735.hp1 HG03688.hp1 |
a0006a0014 | a0006c0006a0014c0017 | a0006c0006t0008a0014c0017t0001 | a0006c0006t0008g0031a0014c0017t0001g0107 | 2 | 126 | 0.0159 | 7 | c.960 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CACACACA | intron_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0041 | 1 | 126 | 0.0079 | 7 | c.265 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCACACA | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01069.hp1 others(3): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0004c0055others(2): Show | a0001c0001t0026a0004c0004t0001a0004c0055t0001others(2): Show | a0001c0001t0026g0039a0004c0004t0001g0083a0004c0055t0001g0007others(3): Show | 6 | 126 | 0.0476 | 7 | c.265 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCCCACA | intron_variant | MODIFIER | NA18960.hp1 NA18977.hp1 NA19068.hp1 others(1): Show |
a0003a0006a0007 | a0003c0003a0006c0032a0007c0018 | a0003c0003t0001a0006c0032t0003a0007c0018t0001 | a0003c0003t0001g0027a0003c0003t0001g0067a0006c0032t0003g0077others(1): Show | 4 | 126 | 0.0318 | 7 | c.265 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCCCCCA | intron_variant | MODIFIER | HG02145.hp1 | a0029 | a0029c0044 | a0029c0044t0014 | a0029c0044t0014g0094 | 1 | 126 | 0.0079 | 7 | c.265 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32866724 | T | TTTTTTTG | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0092 | 1 | 126 | 0.0079 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32870980 | A | AAAAAAAG | intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0096 | 1 | 126 | 0.0079 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32880283 | C | CAAAAAAA | intron_variant | MODIFIER | NA18948.hp1 NA18955.hp1 NA18995.hp1 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0011a0006c0006others(1): Show | a0001c0001t0016a0004c0011t0001a0006c0006t0001others(1): Show | a0001c0001t0016g0038a0004c0011t0001g0085a0006c0006t0001g0019others(1): Show | 4 | 126 | 0.0318 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887745 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG02922.hp1 |
a0002a0005a0008 | a0002c0024a0005c0007a0008c0010 | a0002c0024t0011a0005c0007t0002a0008c0010t0009 | a0002c0024t0011g0016a0005c0007t0002g0093a0008c0010t0009g0004 | 3 | 126 | 0.0238 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887763 | A | AAAAAAAC | intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 126 | 0.0079 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887770 | A | AAAAAAAC | intron_variant | MODIFIER | HG02083.hp1 HG02602.hp1 HG03017.hp1 others(2): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0003c0003t0001others(2): Show | a0001c0001t0001g0054a0001c0002t0003g0113a0003c0003t0001g0027others(2): Show | 5 | 126 | 0.0397 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32968961 | G | GAGGTTGC | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03225.hp1 others(1): Show |
a0002a0003a0010 | a0002c0009a0002c0052a0003c0014others(1): Show | a0002c0009t0010a0002c0052t0025a0003c0014t0010others(1): Show | a0002c0009t0010g0023a0002c0052t0025g0095a0003c0014t0010g0015others(1): Show | 4 | 126 | 0.0318 | 7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32992906 | C | CAAAAAAA | intron_variant | MODIFIER | HG02965.hp1 NA19043.hp1 |
a0002a0010 | a0002c0052a0010c0031 | a0002c0052t0025a0010c0031t0001 | a0002c0052t0025g0095a0010c0031t0001g0096 | 2 | 126 | 0.0159 | 7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33033554 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02976.hp2 others(1): Show |
a0002a0004a0005 | a0002c0026a0004c0004a0005c0057 | a0002c0026t0006a0004c0004t0001a0005c0057t0001 | a0002c0026t0006g0111a0004c0004t0001g0064a0004c0004t0001g0083others(1): Show | 4 | 126 | 0.0318 | 7 | c.32- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33051646 | A | ATTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02683.hp2 HG02976.hp1 others(1): Show |
a0001a0002a0013others(1): Show | a0001c0001a0002c0009a0013c0015others(1): Show | a0001c0001t0001a0002c0009t0002a0013c0015t0001others(1): Show | a0001c0001t0001g0026a0002c0009t0002g0002a0013c0015t0001g0102others(1): Show | 4 | 126 | 0.0318 | 7 | c.32- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33066461 | A | AAGGAAGG | intron_variant | MODIFIER | NA18984.hp1 | a0031 | a0031c0047 | a0031c0047t0005 | a0031c0047t0005g0081 | 1 | 126 | 0.0079 | 7 | c.32- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33129325 | C | CTTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01358.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0022a0002c0016others(9): Show | a0001c0001t0001a0001c0022t0001a0002c0016t0009others(9): Show | a0001c0001t0001g0018a0001c0022t0001g0036a0002c0016t0009g0014others(10): Show | 13 | 126 | 0.1032 | 7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33136278 | C | CAAAAAAA | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0059 | a0002c0059t0012 | a0002c0059t0012g0055 | 1 | 126 | 0.0079 | 7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79006850 | C | CCCCCCCG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(69): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0018others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0018t0001others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0017others(62): Show | 72 | 372 | 0.1936 | 7 | c.225 others(26): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 14/15 | chr5 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 870709 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG02735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0003 | a0001c0001t0001g0248a0001c0001t0001g0256a0001c0001t0001g0260others(3): Show | 6 | 306 | 0.0196 | 7 | c.539 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 951293 | A | AACTGATG | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0085a0001c0001t0002g0121a0001c0001t0002g0252others(2): Show | 5 | 306 | 0.0163 | 7 | c.968 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72846091 | G | GGGGAGGA | intron_variant | MODIFIER | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | 7 | c.257 others(20): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar |