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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMBT1_chr10_122555754_122648736 | 122634430 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02896.hp2 |
a0013a0039 | a0013c0034a0039c0097 | a0013c0034t0002a0039c0097t0002 | a0013c0034t0002g0253 a0039c0097t0002g0022 |
2 | 282 | 0.0071 | 11 | c.654 others(30): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0004 | a0001c0001t0001g0088 a0001c0007t0004g0065 |
2 | 324 | 0.0062 | 11 | c.327 others(28): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31138678 | A | AGGAGAGA others(4): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0018 | a0018c0041 | a0018c0041t0001 | a0018c0041t0001g0046 | 1 | 126 | 0.0079 | 11 | c.109 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 76/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31214937 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 126 | 0.0079 | 11 | c.936 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31289251 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp1 |
a0001a0005 | a0001c0001a0005c0045 | a0001c0001t0002a0005c0045t0018 | a0001c0001t0002g0024 a0005c0045t0018g0118 |
2 | 126 | 0.0159 | 11 | c.922 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31293214 | T | TAGTCTGG others(4): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0092 | 1 | 126 | 0.0079 | 11 | c.922 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31321583 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0041 | 1 | 126 | 0.0079 | 11 | c.922 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31351725 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02293.hp1 HG02647.hp1 others(4): Show |
a0002a0003a0005others(3): Show | a0002c0005a0003c0003a0003c0014others(4): Show | a0002c0005t0007a0003c0003t0027a0003c0014t0010others(4): Show | a0002c0005t0007g0092 a0003c0003t0027g0091 a0003c0014t0010g0015 others(4): Show |
7 | 126 | 0.0556 | 11 | c.908 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31370098 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0093 | 1 | 126 | 0.0079 | 11 | c.908 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31473711 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0020 | a0020c0044 | a0020c0044t0014 | a0020c0044t0014g0094 | 1 | 126 | 0.0079 | 11 | c.893 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 59/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31482555 | T | TGAAACAC others(4): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 126 | 0.0079 | 11 | c.854 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 57/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31510506 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02293.hp2 HG02895.hp1 others(3): Show |
a0002a0004a0005others(2): Show | a0002c0009a0002c0059a0004c0004others(3): Show | a0002c0009t0001a0002c0059t0012a0004c0004t0001others(3): Show | a0002c0009t0001g0065 a0002c0059t0012g0055 a0004c0004t0001g0083 others(3): Show |
6 | 126 | 0.0476 | 11 | 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(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01192.hp1 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0022others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0022t0001others(10): Show | a0001c0001t0001g0018 a0001c0002t0001g0025 a0001c0002t0001g0104 others(14): Show |
17 | 126 | 0.1349 | 11 | c.821 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31770848 | A | ATTAGTGC others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01069.hp1 others(48): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0002c0005others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0069 others(48): Show |
51 | 126 | 0.4048 | 11 | c.754 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 51/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GGGTGTGT others(4): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02976.hp1 NA18982.hp1 others(1): Show |
a0002a0023a0032others(1): Show | a0002c0009a0023c0033a0032c0039others(1): Show | a0002c0009t0002a0023c0033t0001a0032c0039t0003others(1): Show | a0002c0009t0002g0002 a0023c0033t0001g0089 a0032c0039t0003g0075 others(1): Show |
4 | 126 | 0.0318 | 11 | c.720 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18994.hp1 |
a0001a0027 | a0001c0002a0027c0046 | a0001c0002t0001a0027c0046t0029 | a0001c0002t0001g0088 a0027c0046t0029g0126 |
2 | 126 | 0.0159 | 11 | c.720 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31943928 | A | AGAGAGAG others(4): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0011 | a0011c0040 | a0011c0040t0001 | a0011c0040t0001g0048 | 1 | 126 | 0.0079 | 11 | c.661 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31961740 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 126 | 0.0079 | 11 | c.661 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32013088 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 126 | 0.0079 | 11 | c.643 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32013093 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01358.hp1 HG04115.hp1 HG04199.hp1 others(3): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0007c0018others(2): Show | a0001c0001t0002a0003c0003t0001a0007c0018t0001others(2): Show | a0001c0001t0002g0032 a0003c0003t0001g0033 a0003c0003t0001g0067 others(3): Show |
6 | 126 | 0.0476 | 11 | c.643 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32130582 | T | TGATGCAT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00673.hp1 others(68): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0054others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(51): Show | a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0054 others(68): Show |
71 | 126 | 0.5635 | 11 | c.643 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32132993 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0008 | a0003c0008t0015 | a0003c0008t0015g0123 | 1 | 126 | 0.0079 | 11 | c.643 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32199780 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0011 | a0011c0048 | a0011c0048t0001 | a0011c0048t0001g0057 | 1 | 126 | 0.0079 | 11 | c.643 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 NA18952.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0002a0001c0002t0001a0004c0004t0001 | a0001c0001t0002g0024 a0001c0002t0001g0051 a0001c0002t0001g0115 others(1): Show |
4 | 126 | 0.0318 | 11 | c.592 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32388341 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02683.hp2 HG03710.hp1 |
a0001a0013a0023 | a0001c0001a0013c0060a0023c0033 | a0001c0001t0001a0013c0060t0003a0023c0033t0001 | a0001c0001t0001g0037 a0013c0060t0003g0072 a0023c0033t0001g0089 |
3 | 126 | 0.0238 | 11 | c.451 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 32/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32418972 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0025 | a0025c0027 | a0025c0027t0001 | a0025c0027t0001g0124 | 1 | 126 | 0.0079 | 11 | c.407 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32485734 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01433.hp1 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0012others(4): Show | a0001c0001t0013a0001c0002t0001a0002c0012t0002others(4): Show | a0001c0001t0013g0012 a0001c0002t0001g0025 a0001c0002t0001g0088 others(6): Show |
9 | 126 | 0.0714 | 11 | c.262 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 20/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32536287 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 11 | c.216 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32585699 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19068.hp1 |
a0002a0006 | a0002c0005a0006c0032 | a0002c0005t0002a0006c0032t0003 | a0002c0005t0002g0020 a0006c0032t0003g0077 |
2 | 126 | 0.0159 | 11 | c.160 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 |
a0002a0005 | a0002c0009a0005c0007 | a0002c0009t0010a0005c0007t0002 | a0002c0009t0010g0023 a0005c0007t0002g0093 |
2 | 126 | 0.0159 | 11 | c.133 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32649558 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | 11 | c.961 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32679902 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | 11 | c.960 others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32807013 | C | CTAACATC others(4): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18989.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0032 a0004c0004t0001g0006 |
2 | 126 | 0.0159 | 11 | c.649 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32809943 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18989.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0032 a0004c0004t0001g0006 |
2 | 126 | 0.0159 | 11 | c.531 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32870980 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0091 | 1 | 126 | 0.0079 | 11 | c.94- others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32887745 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01943.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0009t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0002t0001g0025 others(6): Show |
9 | 126 | 0.0714 | 11 | c.94- others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32903144 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19060.hp1 NA19085.hp1 |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0013a0001c0002t0013a0006c0006t0001 | a0001c0001t0013g0012 a0001c0002t0013g0097 a0006c0006t0001g0019 |
3 | 126 | 0.0238 | 11 | c.94- others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32948197 | G | GCCTTGGG others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG02257.hp1 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0016a0004c0011others(4): Show | a0001c0001t0001a0001c0001t0004a0002c0016t0009others(5): Show | a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0004g0101 others(6): Show |
9 | 126 | 0.0714 | 11 | c.93+ others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CCAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | 11 | c.93+ others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33066461 | A | AAAAAAGG others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp2 others(4): Show |
a0002a0005a0014others(3): Show | a0002c0009a0002c0059a0005c0057others(4): Show | a0002c0009t0010a0002c0059t0012a0005c0057t0001others(4): Show | a0002c0009t0010g0023 a0002c0059t0012g0055 a0005c0057t0001g0109 others(4): Show |
7 | 126 | 0.0556 | 11 | c.32- others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33081008 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 11 | c.32- others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33129325 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0050 | 1 | 126 | 0.0079 | 11 | c.31+ others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33195732 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 126 | 0.0079 | 11 | c.31+ others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 870709 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02647.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0089 a0001c0001t0002g0205 a0001c0001t0004g0236 others(5): Show |
8 | 306 | 0.0261 | 11 | c.539 others(30): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 890083 | G | GGGTTTTT others(4): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0295 | 1 | 306 | 0.0033 | 11 | c.539 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | chr9 | TogoVar | |||||||
DMRT2_chr9_1045357_1062552 | 1060726 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG02040.hp1 HG02486.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0024others(3): Show | a0001c0003t0006a0001c0005t0001a0001c0024t0019others(5): Show | a0001c0003t0006g0002 a0001c0005t0001g0008 a0001c0024t0019g0103 others(6): Show |
20 | 488 | 0.0410 | 11 | c.*34 others(22): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3175 | chr9 | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72893553 | G | GGAAAACT others(4): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | 11 | c.-94 others(30): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22065827 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0053 | 1 | 324 | 0.0031 | 11 | c.-17 others(28): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01361.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0206 a0001c0001t0001g0208 others(8): Show |
12 | 324 | 0.0370 | 11 | c.836 others(26): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 238 | 0.0042 | 11 | c.88- others(26): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |