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 | 31289899 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0031 | 1 | 126 | 0.0079 | 9 | c.922 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31321583 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02257.hp2 HG02258.hp1 others(1): Show |
a0003a0019 | a0003c0003a0003c0008a0019c0033 | a0003c0003t0002a0003c0003t0027a0003c0008t0023others(1): Show | a0003c0003t0002g0043a0003c0003t0027g0091a0003c0008t0023g0005others(1): Show | 4 | 126 | 0.0318 | 9 | c.922 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31321607 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 |
a0002a0010 | a0002c0026a0010c0051 | a0002c0026t0006a0010c0051t0011 | a0002c0026t0006g0111a0010c0051t0011g0121 | 2 | 126 | 0.0159 | 9 | c.922 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31347001 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03688.hp1 |
a0005a0014 | a0005c0007a0014c0017 | a0005c0007t0002a0014c0017t0001 | a0005c0007t0002g0093a0014c0017t0001g0107 | 2 | 126 | 0.0159 | 9 | c.916 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31384309 | C | CACTACTA others(2): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0053 | a0005c0053t0004 | a0005c0053t0004g0103 | 1 | 126 | 0.0079 | 9 | c.908 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31473711 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | 9 | c.893 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31511336 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 HG02895.hp1 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0002a0002c0016a0002c0059others(7): Show | a0001c0002t0003a0002c0016t0001a0002c0016t0009others(8): Show | a0001c0002t0003g0113a0002c0016t0001g0060a0002c0016t0009g0014others(8): Show | 11 | 126 | 0.0873 | 9 | c.821 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31517918 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0033 | a0033c0050 | a0033c0050t0001 | a0033c0050t0001g0119 | 1 | 126 | 0.0079 | 9 | c.821 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31551180 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 126 | 0.0079 | 9 | c.821 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31551181 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02602.hp1 HG02735.hp1 others(11): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0005others(10): Show | a0001c0001t0001a0001c0002t0003a0002c0005t0001others(11): Show | a0001c0001t0001g0090a0001c0002t0003g0113a0002c0005t0001g0049others(11): Show | 14 | 126 | 0.1111 | 9 | c.821 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31559640 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02015.hp1 HG02738.hp1 others(1): Show |
a0001a0004a0024 | a0001c0002a0004c0011a0024c0038 | a0001c0002t0001a0004c0011t0001a0024c0038t0001 | a0001c0002t0001g0025a0001c0002t0001g0105a0004c0011t0001g0034others(1): Show | 4 | 126 | 0.0318 | 9 | c.821 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31648617 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 NA20905.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0008a0003c0003t0001g0027 | 2 | 126 | 0.0159 | 9 | c.802 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 54/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31778565 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 126 | 0.0079 | 9 | c.731 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 50/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGGTGTGT others(2): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0035 | a0035c0029 | a0035c0029t0001 | a0035c0029t0001g0071 | 1 | 126 | 0.0079 | 9 | c.720 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG03490.hp1 others(2): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0059a0009c0013others(2): Show | a0001c0001t0001a0002c0059t0012a0009c0013t0022others(2): Show | a0001c0001t0001g0026a0002c0059t0012g0055a0009c0013t0022g0066others(2): Show | 5 | 126 | 0.0397 | 9 | c.720 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31922495 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 | 1 | 126 | 0.0079 | 9 | c.691 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 47/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31961740 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0008 | a0003c0008t0012 | a0003c0008t0012g0117 | 1 | 126 | 0.0079 | 9 | c.661 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32013093 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02293.hp2 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0007others(9): Show | a0001c0001t0001g0054a0001c0001t0001g0084a0001c0002t0001g0058others(10): Show | 13 | 126 | 0.1032 | 9 | c.643 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32200443 | C | CACACATG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01109.hp1 others(39): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0022others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(33): Show | a0001c0001t0001g0037a0001c0001t0001g0084a0001c0001t0002g0024others(39): Show | 42 | 126 | 0.3333 | 9 | c.643 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32205042 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0020 | 1 | 126 | 0.0079 | 9 | c.643 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 126 | 0.0079 | 9 | c.592 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32360800 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(55): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0022others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(55): Show | 58 | 126 | 0.4603 | 9 | c.532 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 37/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32394911 | A | AAACAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(74): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0022others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(74): Show | 77 | 126 | 0.6111 | 9 | c.423 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32394921 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0022others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0026others(65): Show | 68 | 126 | 0.5397 | 9 | c.423 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32394922 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0035 | 1 | 126 | 0.0079 | 9 | c.423 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32418972 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19043.hp1 |
a0010 | a0010c0031a0010c0051 | a0010c0031t0001a0010c0051t0011 | a0010c0031t0001g0096a0010c0051t0011g0121 | 2 | 126 | 0.0159 | 9 | c.407 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32485734 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01192.hp1 others(13): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(10): Show | a0001c0001t0001g0054a0001c0001t0001g0084a0001c0001t0001g0090others(13): Show | 16 | 126 | 0.1270 | 9 | c.262 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 20/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554868 | G | GAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0023 | a0023c0041 | a0023c0041t0001 | a0023c0041t0001g0046 | 1 | 126 | 0.0079 | 9 | c.199 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32600624 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 126 | 0.0079 | 9 | c.148 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 12/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19070.hp1 |
a0016a0035 | a0016c0028a0035c0029 | a0016c0028t0005a0035c0029t0001 | a0016c0028t0005g0028a0035c0029t0001g0071 | 2 | 126 | 0.0159 | 9 | c.133 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32815664 | A | ATTAATTC others(2): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0002a0022 | a0002c0009a0022c0025 | a0002c0009t0002a0022c0025t0006 | a0002c0009t0002g0002a0022c0025t0006g0108 | 2 | 126 | 0.0159 | 9 | c.530 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCACACA others(2): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0030 | a0030c0037 | a0030c0037t0005 | a0030c0037t0005g0082 | 1 | 126 | 0.0079 | 9 | c.265 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32827065 | C | CCCCCACA others(2): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0005 | a0005c0007 | a0005c0007t0007 | a0005c0007t0007g0063 | 1 | 126 | 0.0079 | 9 | c.265 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 4/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32863509 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0059 | a0002c0059t0012 | a0002c0059t0012g0055 | 1 | 126 | 0.0079 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32870980 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02647.hp1 others(4): Show |
a0002a0004a0005others(2): Show | a0002c0005a0004c0011a0005c0053others(2): Show | a0002c0005t0001a0002c0005t0007a0004c0011t0001others(3): Show | a0002c0005t0001g0022a0002c0005t0007g0092a0004c0011t0001g0034others(4): Show | 7 | 126 | 0.0556 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32883823 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887745 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 126 | 0.0079 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887770 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32903144 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02129.hp1 NA18943.hp1 others(4): Show |
a0001a0003a0007others(4): Show | a0001c0001a0003c0014a0007c0019others(4): Show | a0001c0001t0016a0003c0014t0001a0007c0019t0001others(4): Show | a0001c0001t0016g0038a0003c0014t0001g0059a0007c0019t0001g0061others(4): Show | 7 | 126 | 0.0556 | 9 | c.94- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32991249 | A | AGGATTTG others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00738.hp1 others(54): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0002c0005others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(40): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0054others(54): Show | 57 | 126 | 0.4524 | 9 | c.93+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33026313 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0092 | 1 | 126 | 0.0079 | 9 | c.32- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33066461 | A | AAAAGGAA others(2): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02735.hp1 HG03579.hp1 |
a0001a0002a0006 | a0001c0002a0002c0012a0006c0006 | a0001c0002t0001a0002c0012t0002a0006c0006t0008 | a0001c0002t0001g0104a0002c0012t0002g0098a0006c0006t0008g0031 | 3 | 126 | 0.0238 | 9 | c.32- others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33129325 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03139.hp1 |
a0002a0005 | a0002c0024a0005c0045 | a0002c0024t0011a0005c0045t0018 | a0002c0024t0011g0016a0005c0045t0018g0118 | 2 | 126 | 0.0159 | 9 | c.31+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33166827 | T | TTAAACTG others(2): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0012 | a0012c0048 | a0012c0048t0001 | a0012c0048t0001g0057 | 1 | 126 | 0.0079 | 9 | c.31+ others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMKN_chr19_35492220_35518649 | 35511519 | A | ACTGCTGC others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00642.hp1 HG01243.hp2 others(4): Show |
a0015a0035 | a0015c0012a0035c0038 | a0015c0012t0001a0015c0012t0002a0035c0038t0001 | a0015c0012t0001g0029a0015c0012t0001g0066a0015c0012t0001g0072others(3): Show | 7 | 442 | 0.0158 | 9 | c.809 others(16): Show |
p.Ser others(13): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 983/1924 | 809/1431 | 270/476 | chr19 | TogoVar | ||
DMRT1_chr9_836697_974090 | 854783 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0141a0001c0001t0001g0189a0001c0001t0001g0191others(114): Show | 117 | 306 | 0.3824 | 9 | c.538 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 870709 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01070.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0101a0001c0001t0001g0189a0001c0001t0001g0196others(21): Show | 24 | 306 | 0.0784 | 9 | c.539 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 897090 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01515.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0279a0001c0001t0001g0294a0001c0003t0001g0214others(6): Show | 9 | 306 | 0.0294 | 9 | c.822 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT2_chr9_1045357_1062552 | 1060726 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02723.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0003t0006a0002c0001t0001others(2): Show | a0001c0002t0002g0001a0001c0003t0006g0054a0002c0001t0001g0038others(2): Show | 5 | 488 | 0.0103 | 9 | c.*34 others(20): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3175 | chr9 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72776950 | T | TTCCTCCT others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0010 | 1 | 26 | 0.0385 | 9 | c.-34 others(18): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68133 | INFO_REALIGN_3_PRIME | chrX | TogoVar |