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 | 32132993 | C | CTTTTCTT others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 126 | 0.0079 | 14 | c.643 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32156631 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0016 | 1 | 126 | 0.0079 | 14 | c.643 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32190550 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG01515.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0054a0001c0001t0001g0069a0001c0002t0001g0074others(7): Show | 10 | 126 | 0.0794 | 14 | c.643 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32199780 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG02145.hp1 |
a0001a0013a0029 | a0001c0001a0013c0015a0029c0044 | a0001c0001t0001a0013c0015t0001a0029c0044t0014 | a0001c0001t0001g0062a0013c0015t0001g0102a0029c0044t0014g0094 | 3 | 126 | 0.0238 | 14 | c.643 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32204976 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01943.hp1 HG01952.hp1 others(3): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0008t0023others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0069others(3): Show | 6 | 126 | 0.0476 | 14 | c.643 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32205005 | T | TCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG02040.hp1 others(9): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0001g0084others(9): Show | 12 | 126 | 0.0952 | 14 | c.643 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32252677 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0031 | 1 | 126 | 0.0079 | 14 | c.629 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32292302 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03942.hp1 |
a0001a0007 | a0001c0001a0007c0019 | a0001c0001t0008a0007c0019t0001 | a0001c0001t0008g0021a0007c0019t0001g0052 | 2 | 126 | 0.0159 | 14 | c.611 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 42/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03942.hp1 |
a0001a0021 | a0001c0001a0021c0035 | a0001c0001t0008a0021c0035t0001 | a0001c0001t0008g0021a0021c0035t0001g0106 | 2 | 126 | 0.0159 | 14 | c.592 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32332413 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02976.hp2 HG03130.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0005a0002c0009others(3): Show | a0001c0001t0001a0002c0005t0001a0002c0009t0010others(3): Show | a0001c0001t0001g0090a0002c0005t0001g0049a0002c0009t0010g0023others(3): Show | 6 | 126 | 0.0476 | 14 | c.592 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32388341 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03209.hp1 |
a0002a0003a0029 | a0002c0026a0003c0008a0029c0044 | a0002c0026t0006a0003c0008t0015a0029c0044t0014 | a0002c0026t0006g0111a0003c0008t0015g0123a0029c0044t0014g0094 | 3 | 126 | 0.0238 | 14 | c.451 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 32/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32394911 | A | AAACAAAA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0017 | 1 | 126 | 0.0079 | 14 | c.423 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 30/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32418972 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0053 | a0005c0053t0004 | a0005c0053t0004g0103 | 1 | 126 | 0.0079 | 14 | c.407 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32429386 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | 14 | c.407 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32435275 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18944.hp1 |
a0002a0026 | a0002c0052a0026c0042 | a0002c0052t0025a0026c0042t0024 | a0002c0052t0025g0095a0026c0042t0024g0070 | 2 | 126 | 0.0159 | 14 | c.407 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32536264 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp1 |
a0002a0029 | a0002c0020a0029c0044 | a0002c0020t0028a0029c0044t0014 | a0002c0020t0028g0010a0029c0044t0014g0094 | 2 | 126 | 0.0159 | 14 | c.216 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32558943 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0010 | a0010c0051 | a0010c0051t0011 | a0010c0051t0011g0121 | 1 | 126 | 0.0079 | 14 | c.199 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32558944 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 14 | c.199 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 |
a0002a0003 | a0002c0052a0003c0008 | a0002c0052t0025a0003c0008t0023 | a0002c0052t0025g0095a0003c0008t0023g0005 | 2 | 126 | 0.0159 | 14 | c.133 others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32679902 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0017 | a0017c0027 | a0017c0027t0001 | a0017c0027t0001g0124 | 1 | 126 | 0.0079 | 14 | c.960 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32771503 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02293.hp2 HG02895.hp1 others(1): Show |
a0002a0003 | a0002c0009a0002c0020a0002c0059others(1): Show | a0002c0009t0001a0002c0020t0030a0002c0059t0012others(1): Show | a0002c0009t0001g0065a0002c0020t0030g0125a0002c0059t0012g0055others(1): Show | 4 | 126 | 0.0318 | 14 | c.649 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32772859 | A | AAACATCA others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02572.hp1 others(7): Show |
a0002a0003a0010others(5): Show | a0002c0020a0003c0008a0003c0014others(6): Show | a0002c0020t0028a0002c0020t0030a0003c0008t0012others(7): Show | a0002c0020t0028g0010a0002c0020t0030g0125a0003c0008t0012g0117others(7): Show | 10 | 126 | 0.0794 | 14 | c.649 others(33): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32807122 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0016 | 1 | 126 | 0.0079 | 14 | c.649 others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 7/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18955.hp1 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0004c0011t0001 | a0001c0001t0001g0037a0004c0011t0001g0085 | 2 | 126 | 0.0159 | 14 | c.530 others(29): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32863509 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0026 | a0002c0026t0006 | a0002c0026t0006g0111 | 1 | 126 | 0.0079 | 14 | c.94- others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32863537 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 |
a0005a0022 | a0005c0053a0022c0025 | a0005c0053t0004a0022c0025t0006 | a0005c0053t0004g0103a0022c0025t0006g0108 | 2 | 126 | 0.0159 | 14 | c.94- others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32964255 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 NA18612.hp1 others(1): Show |
a0012a0024a0030others(1): Show | a0012c0040a0024c0038a0030c0037others(1): Show | a0012c0040t0001a0024c0038t0001a0030c0037t0005others(1): Show | a0012c0040t0001g0048a0024c0038t0001g0053a0030c0037t0005g0082others(1): Show | 4 | 126 | 0.0318 | 14 | c.93+ others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33008810 | A | ATGTGTAT others(7): Show |
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 | 14 | c.93+ others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33009778 | A | ATATGTGT others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0010 | a0010c0051 | a0010c0051t0011 | a0010c0051t0011g0121 | 1 | 126 | 0.0079 | 14 | c.93+ others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33045315 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01192.hp1 others(33): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0002c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(25): Show | a0001c0001t0001g0018a0001c0001t0001g0062a0001c0001t0001g0076others(33): Show | 36 | 126 | 0.2857 | 14 | c.32- others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33051646 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0122 | 1 | 126 | 0.0079 | 14 | c.32- others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33070639 | A | ATCTCTCT others(7): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | 14 | c.32- others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33080974 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG04199.hp1 |
a0002a0012 | a0002c0005a0012c0048 | a0002c0005t0001a0012c0048t0001 | a0002c0005t0001g0040a0012c0048t0001g0057 | 2 | 126 | 0.0159 | 14 | c.32- others(31): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp1 HG02109.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0002a0002c0002t0003a0002c0002t0005others(2): Show | a0001c0001t0002g0131a0002c0002t0003g0011a0002c0002t0003g0013others(9): Show | 12 | 306 | 0.0392 | 14 | c.-11 others(25): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 870709 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0122 | 1 | 306 | 0.0033 | 14 | c.539 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 905473 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01891.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0126a0001c0001t0001g0150a0001c0001t0001g0166others(22): Show | 25 | 306 | 0.0817 | 14 | c.822 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 906020 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 306 | 0.0033 | 14 | c.823 others(33): 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(7): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(3): Show | a0001c0002t0002a0001c0003t0004a0001c0003t0005others(8): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0007others(15): Show | 31 | 488 | 0.0635 | 14 | c.*34 others(25): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3175 | chr9 | TogoVar | ||||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(7): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 NA19043.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0002g0006a0001c0001t0003g0008 | 3 | 394 | 0.0076 | 14 | c.-13 others(25): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079265 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 324 | 0.0031 | 14 | c.836 others(29): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079269 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 1 | 324 | 0.0031 | 14 | c.836 others(29): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(7): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 324 | 0.0031 | 14 | c.836 others(29): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0125others(8): Show | 14 | 324 | 0.0432 | 14 | c.836 others(29): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079292 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0012a0004c0005t0002g0012 | 2 | 324 | 0.0062 | 14 | c.836 others(29): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089277 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01106.hp2 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0003a0006c0011others(1): Show | a0001c0002t0001a0002c0003t0004a0002c0003t0006others(2): Show | a0001c0002t0001g0096a0002c0003t0004g0085a0002c0003t0006g0090others(2): Show | 5 | 238 | 0.0210 | 14 | c.88- others(29): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01993.hp1 HG02080.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0006 | a0001c0002t0001g0094a0001c0002t0001g0114a0001c0002t0001g0126others(1): Show | 4 | 238 | 0.0168 | 14 | c.88- others(29): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp2 HG02602.hp2 others(3): Show |
a0001a0002a0014 | a0001c0002a0002c0003a0014c0027 | a0001c0002t0001a0002c0003t0001a0014c0027t0001 | a0001c0002t0001g0105a0001c0002t0001g0131a0001c0002t0001g0210others(3): Show | 6 | 238 | 0.0252 | 14 | c.88- others(29): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03516.hp2 NA18944.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0206a0001c0001t0001g0207a0002c0003t0006g0061 | 3 | 238 | 0.0126 | 14 | c.88- others(29): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089999 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG02970.hp2 |
a0001a0007 | a0001c0001a0001c0044a0007c0012 | a0001c0001t0002a0001c0044t0002a0007c0012t0001 | a0001c0001t0002g0044a0001c0044t0002g0046a0007c0012t0001g0041 | 3 | 238 | 0.0126 | 14 | c.88- others(29): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119173774 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 238 | 0.0042 | 14 | c.668 others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |