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 | 122645358 | GGAGGTGG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp2 HG03225.hp2 HG03486.hp1 |
a0015 | a0015c0017 | a0015c0017t0002 | a0015c0017t0002g0054 a0015c0017t0002g0055 a0015c0017t0002g0056 |
3 | 280 | 0.0107 | -30 | c.*19 others(41): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 1623 | chr10 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31187716 | TCAGAGAG others(23): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0057 | 1 | 117 | 0.0085 | -30 | c.980 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31187717 | CAGAGAGA others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01243.hp1 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0009a0003c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0075 others(14): Show |
17 | 29 | 0.5862 | -30 | c.980 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32227264 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0051 | a0002c0051t0003 | a0002c0051t0003g0091 | 1 | 11 | 0.0909 | -30 | c.629 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452298 | GGAAAGGG others(23): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03209.hp1 |
a0002a0025 | a0002c0025a0025c0026 | a0002c0025t0008a0025c0026t0001 | a0002c0025t0008g0108 a0025c0026t0001g0126 |
2 | 124 | 0.0161 | -30 | c.360 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32601660 | GTAGCATC others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00673.hp1 others(39): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0053others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0033 others(39): Show |
42 | 126 | 0.3333 | -30 | c.148 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 12/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32683996 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0094 | 1 | 117 | 0.0085 | -30 | c.960 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009075 | CATATATG others(23): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(43): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0002c0005others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(35): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0034 others(43): Show |
46 | 126 | 0.3651 | -30 | c.93+ others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(23): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0028 others(9): Show |
18 | 23 | 0.7826 | -30 | c.*25 others(39): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 254 | chr19 | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | GTTTGCTT others(23): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0034 | 1 | 2 | 0.5000 | -30 | c.-94 others(47): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843048 | AAAAAAAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03239.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0035 |
5 | 400 | 0.0125 | -30 | c.-20 others(41): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1993 | chr19 | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843049 | AAAAAAAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp1 NA18612.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0002t0001g0016 |
4 | 399 | 0.0100 | -30 | c.-20 others(41): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1992 | chr19 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119123321 | GGGGAGAG others(23): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02735.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0002 | a0001c0002t0002g0015 a0001c0006t0002g0016 |
2 | 110 | 0.0182 | -30 | c.110 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3350132 | GACACACA others(23): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0005 | 1 | 359 | 0.0028 | -30 | c.691 others(47): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123896128 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0010others(6): Show | a0001c0001a0002c0011a0010c0028others(6): Show | a0001c0001t0001a0002c0011t0001a0010c0028t0001others(6): Show | a0001c0001t0001g0053 a0002c0011t0001g0003 a0010c0028t0001g0067 others(7): Show |
10 | 160 | 0.0625 | -30 | c.928 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911443 | GGGGGGGT others(23): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0093 | a0002c0093t0002 | a0002c0093t0002g0134 | 1 | 168 | 0.0060 | -30 | c.101 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078813 | TCTCTCTC others(23): Show |
T | intron_variant | MODIFIER | HG02818.hp2 NA19010.hp1 |
a0068a0103 | a0068c0116a0103c0119 | a0068c0116t0001a0103c0119t0001 | a0068c0116t0001g0240 a0103c0119t0001g0093 |
2 | 234 | 0.0085 | -30 | c.242 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0007a0020a0031others(3): Show | a0007c0007a0020c0019a0020c0038others(4): Show | a0007c0007t0001a0020c0019t0001a0020c0038t0001others(4): Show | a0007c0007t0001g0017 a0020c0019t0001g0101 a0020c0019t0001g0102 others(5): Show |
8 | 163 | 0.0491 | -30 | c.846 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290643 | GTGTGTAT others(23): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0071 | a0071c0074 | a0071c0074t0001 | a0071c0074t0001g0018 | 1 | 181 | 0.0055 | -30 | c.846 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335332 | TGTGTACA others(23): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 |
a0032a0061 | a0032c0075a0061c0087 | a0032c0075t0001a0061c0087t0001 | a0032c0075t0001g0001 a0061c0087t0001g0028 |
2 | 238 | 0.0084 | -30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335599 | GCATACGT others(23): Show |
G | intron_variant | MODIFIER | HG02027.hp1 HG03491.hp1 HG03492.hp2 others(3): Show |
a0034a0050a0085others(2): Show | a0034c0035a0050c0121a0085c0096others(2): Show | a0034c0035t0001a0050c0121t0001a0085c0096t0001others(2): Show | a0034c0035t0001g0089 a0034c0035t0001g0090 a0050c0121t0001g0094 others(3): Show |
6 | 238 | 0.0252 | -30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335858 | TATATGTA others(23): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01081.hp2 others(41): Show |
a0001a0006a0007others(13): Show | a0001c0001a0001c0008a0006c0006others(15): Show | a0001c0001t0001a0001c0008t0001a0006c0006t0001others(15): Show | a0001c0001t0001g0105 a0001c0001t0001g0157 a0001c0001t0001g0158 others(41): Show |
44 | 183 | 0.2404 | -30 | c.100 others(51): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13829898 | TTTTCAAA others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(111): Show |
a0002a0003a0005others(71): Show | a0002c0180a0003c0121a0005c0026others(95): Show | a0002c0180t0012a0003c0121t0001a0005c0026t0002others(96): Show | a0002c0180t0012g0166 a0003c0121t0001g0093 a0005c0026t0002g0036 others(111): Show |
114 | 250 | 0.4560 | -30 | c.624 others(46): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 37/78 | chr5 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195735102 | TTGTACTG others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02886.hp2 others(1): Show |
a0018a0041 | a0018c0018a0041c0026 | a0018c0018t0001a0041c0026t0001 | a0018c0018t0001g0031 a0018c0018t0001g0033 a0018c0018t0001g0034 others(1): Show |
4 | 254 | 0.0157 | -30 | c.*27 others(41): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 2600 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38874037 | CTTTTCTT others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0141 a0001c0022t0001g0258 a0001c0022t0001g0260 |
3 | 170 | 0.0176 | -30 | c.762 others(47): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38874288 | CCCCTCCC others(23): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0046 | a0046c0068 | a0046c0068t0001 | a0046c0068t0001g0209 | 1 | 284 | 0.0035 | -30 | c.762 others(47): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694840 | CCTTCCTT others(23): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02132.hp1 others(5): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(5): Show | a0001c0001t0001g0139 a0001c0002t0001g0145 a0002c0005t0001g0066 others(5): Show |
8 | 150 | 0.0533 | -30 | c.487 others(47): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11707990 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01928.hp1 others(1): Show |
a0001a0004a0005 | a0001c0003a0004c0109a0005c0004 | a0001c0003t0001a0004c0109t0001a0005c0004t0001 | a0001c0003t0001g0170 a0001c0003t0001g0171 a0004c0109t0001g0034 others(1): Show |
4 | 157 | 0.0255 | -30 | c.555 others(49): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI1_chr9_34453805_34525984 | 34492493 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 23 | 0.0435 | -30 | c.682 others(45): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66845190 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0014t0001others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(107): Show |
110 | 227 | 0.4846 | -30 | c.129 others(49): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 8/16 | chr1 | TogoVar | |||||||
DNAI4_chr1_66807885_66929856 | 66892979 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp2 HG03041.hp1 others(2): Show |
a0002a0004a0006 | a0002c0002a0002c0004a0004c0006others(1): Show | a0002c0002t0001a0002c0004t0001a0004c0006t0001others(1): Show | a0002c0002t0001g0015 a0002c0002t0001g0019 a0002c0004t0001g0214 others(2): Show |
5 | 262 | 0.0191 | -30 | c.530 others(45): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
DNAI7_chr12_25103289_25200160 | 25130536 | CAAAATAA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(170): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(169): Show |
173 | 193 | 0.8964 | -30 | c.100 others(49): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(23): Show |
G | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0014 a0001c0001t0018g0082 |
2 | 10 | 0.2000 | -30 | c.-19 others(41): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819680 | AAGAAAGA others(23): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 382 | 0.0026 | -30 | c.157 others(47): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819749 | AGGAAGGA others(23): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0108 |
2 | 380 | 0.0053 | -30 | c.157 others(47): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC5B_chr8_66016553_66106245 | 66020594 | CTGTGTGT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00735.hp2 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 others(66): Show |
69 | 87 | 0.7931 | -30 | c.-12 others(41): Show |
DNAJC5B | ENSG00000147570.10 | transcript | ENST00000276570.10 | protein_coding | 958 | chr8 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00621.hp2 others(27): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0015t0001others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 others(27): Show |
30 | 43 | 0.6977 | -30 | c.172 others(47): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(23): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03540.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0001g0148 others(1): Show |
4 | 90 | 0.0444 | -30 | c.848 others(47): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229668522 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 116 | 0.0086 | -30 | c.276 others(49): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
DNM2_chr19_10713079_10836903 | 10822042 | ACCACACC others(23): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0267 | 1 | 276 | 0.0036 | -30 | c.178 others(49): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300712 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 97 | 0.0103 | -30 | c.73- others(43): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45800690 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 367 | 0.0054 | -30 | c.373 others(45): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800692 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 385 | 0.0026 | -30 | c.373 others(45): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800694 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02602.hp1 NA18980.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0045 a0001c0002t0002g0122 |
3 | 307 | 0.0098 | -30 | c.373 others(45): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45814271 | CATATATA others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0018 others(18): Show |
54 | 125 | 0.4320 | -30 | c.*30 others(41): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 2854 | chr20 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 171073 | GGCAGCAC others(23): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0113 | 1 | 338 | 0.0030 | -30 | c.453 others(47): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DOC2B_chr17_137789_186650 | 171437 | GCACCAGG others(23): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0108 | 1 | 338 | 0.0030 | -30 | c.453 others(47): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126924360 | TGGGAGGC others(23): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01071.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0002a0001c0001t0016a0001c0002t0001others(16): Show | a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0032 others(20): Show |
23 | 134 | 0.1716 | -30 | c.46+ others(47): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK4_chr7_111721110_112211399 | 111995429 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0011t0002 | a0001c0002t0002g0070 a0001c0011t0002g0035 |
2 | 106 | 0.0189 | -30 | c.219 others(47): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 4/52 | chr7 | TogoVar | |||||||
DOCK4_chr7_111721110_112211399 | 112066670 | CATATACA others(23): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0004 | a0001c0001t0002g0044 a0001c0004t0004g0018 |
2 | 63 | 0.0317 | -30 | c.38- others(47): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 1/52 | chr7 | TogoVar |