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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLG1_chr3_197037560_197303612 | 197190350 | GCATACTG others(14): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0120 a0001c0001t0004g0121 others(3): Show |
6 | 330 | 0.0182 | -21 | c.483 others(38): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3574799 | ATTTTATT others(14): Show |
A | intron_variant | MODIFIER | HG02451.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0007 | a0001c0001t0039g0056 a0001c0002t0007g0022 |
2 | 80 | 0.0250 | -21 | c.196 others(40): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 8/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4407870 | AAATAAAT others(14): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02895.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0017 a0001c0001t0003g0059 a0001c0001t0003g0076 others(10): Show |
13 | 80 | 0.1625 | -21 | c.-26 others(42): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1238257 | CTCACATG others(14): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -21 | c.74- others(38): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1614824 | ACACACAC others(14): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03516.hp1 NA18906.hp2 |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0022a0001c0003t0024a0001c0011t0015 | a0001c0002t0022g0034 a0001c0003t0024g0003 a0001c0011t0015g0001 |
3 | 40 | 0.0750 | -21 | c.144 others(42): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34867338 | AGCCCAGG others(14): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 264 | 0.0038 | -21 | c.257 others(38): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
DLGAP3_chr1_34860436_34934650 | 34888049 | TGAAGTCA others(14): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0176 | 1 | 264 | 0.0038 | -21 | c.138 others(40): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
DLGAP3_chr1_34860436_34934650 | 34928408 | GCCCCAGA others(14): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02486.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 others(13): Show |
16 | 264 | 0.0606 | -21 | c.-13 others(40): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36349104 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0018 a0003c0004t0002g0019 |
2 | 28 | 0.0714 | -21 | c.-30 others(42): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36409398 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG02040.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0104 a0001c0001t0002g0043 a0001c0001t0002g0122 others(12): Show |
15 | 70 | 0.2143 | -21 | c.-72 others(40): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36525216 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0132 | 1 | 60 | 0.0167 | -21 | c.260 others(38): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLX6_chr7_97000553_97016040 | 97006523 | CGGCCCCG others(14): Show |
C | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 406 | 0.0025 | -21 | c.436 others(36): Show |
DLX6 | ENSG00000006377.11 | transcript | ENST00000518156.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DMAC2_chr19_41426318_41444912 | 41434889 | CCAGGTAC others(14): Show |
C | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 424 | 0.0024 | -21 | c.297 others(38): Show |
DMAC2 | ENSG00000105341.19 | transcript | ENST00000221943.14 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634411 | TTCTCTCT others(14): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03516.hp1 |
a0010a0031 | a0010c0011a0031c0029 | a0010c0011t0001a0031c0029t0001 | a0010c0011t0001g0045 a0031c0029t0001g0109 |
2 | 267 | 0.0075 | -21 | c.654 others(40): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 31196819 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp1 HG01358.hp1 others(2): Show |
a0002a0003a0007others(1): Show | a0002c0005a0002c0023a0003c0003others(2): Show | a0002c0005t0001a0002c0023t0009a0003c0003t0001others(2): Show | a0002c0005t0001g0037 a0002c0023t0009g0011 a0003c0003t0001g0028 others(2): Show |
5 | 7 | 0.7143 | -21 | c.980 others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 67/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31327463 | TGTTAAGT others(14): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02257.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0023a0003c0008others(3): Show | a0001c0001t0002a0001c0001t0006a0002c0023t0009others(4): Show | a0001c0001t0002g0019 a0001c0001t0006g0097 a0002c0023t0009g0011 others(4): Show |
7 | 126 | 0.0556 | -21 | c.916 others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32280133 | TTATATAT others(14): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02451.hp2 others(5): Show |
a0002a0003a0004others(3): Show | a0002c0016a0002c0023a0003c0010others(4): Show | a0002c0016t0005a0002c0023t0009a0003c0010t0007others(5): Show | a0002c0016t0005g0042 a0002c0023t0009g0011 a0003c0010t0007g0010 others(5): Show |
8 | 126 | 0.0635 | -21 | c.629 others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 43/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32551921 | GGAGGTGA others(14): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 126 | 0.0079 | -21 | c.199 others(40): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(16): Show |
82 | 87 | 0.9425 | -21 | c.*26 others(30): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 263 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG02165.hp2 NA18986.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0025 a0002c0002t0003g0079 |
2 | 17 | 0.1176 | -21 | c.823 others(38): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843057 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02486.hp2 others(13): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(3): Show |
16 | 400 | 0.0400 | -21 | c.-20 others(32): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1984 | chr19 | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843058 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 2 | 396 | 0.0051 | -21 | c.-20 others(32): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1983 | chr19 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0008 | 1 | 7 | 0.1429 | -21 | c.88- others(36): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55160605 | AGTCCCTG others(14): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0003a0007 | a0003c0002a0007c0015 | a0003c0002t0001a0007c0015t0001 | a0003c0002t0001g0002 a0003c0002t0001g0006 a0003c0002t0001g0007 others(12): Show |
73 | 396 | 0.1843 | -21 | c.104 others(36): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 9/11 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00639.hp1 others(42): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 others(41): Show |
45 | 79 | 0.5696 | -21 | c.405 others(38): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3300678 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG03225.hp2 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0009 a0001c0003t0006g0010 a0001c0003t0006g0347 |
3 | 89 | 0.0337 | -21 | c.178 others(40): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 21/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3394942 | CTTTTTTC others(14): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0004a0001c0006t0023 | a0001c0003t0004g0041 a0001c0006t0023g0005 |
2 | 341 | 0.0059 | -21 | c.84- others(38): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA18747.hp2 | a0034 | a0034c0144 | a0034c0144t0002 | a0034c0144t0002g0051 | 1 | 11 | 0.0909 | -21 | c.744 others(40): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21901555 | CAAGACTC others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02071.hp2 | a0094 | a0094c0029 | a0094c0029t0018 | a0094c0029t0018g0072 | 1 | 296 | 0.0034 | -21 | c.*30 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 304 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225055101 | TTGATGAT others(14): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0070 | a0070c0063 | a0070c0063t0001 | a0070c0063t0001g0231 | 1 | 238 | 0.0042 | -21 | c.242 others(40): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78433929 | GAGGGAGG others(14): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0087 | a0002c0087t0001 | a0002c0087t0001g0017 | 1 | 250 | 0.0040 | -21 | c.122 others(38): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78456387 | GCATTGAC others(14): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02559.hp1 others(5): Show |
a0004a0005a0045others(5): Show | a0004c0099a0005c0053a0045c0201others(5): Show | a0004c0099t0002a0005c0053t0001a0045c0201t0001others(5): Show | a0004c0099t0002g0133 a0005c0053t0001g0176 a0045c0201t0001g0140 others(5): Show |
8 | 250 | 0.0320 | -21 | c.997 others(38): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 62/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0027 | 1 | 30 | 0.0333 | -21 | c.775 others(38): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540747 | GTGGGTGG others(14): Show |
G | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0169 | a0001c0169t0001 | a0001c0169t0001g0179 | 1 | 250 | 0.0040 | -21 | c.253 others(38): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540763 | AGTGGATG others(14): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(152): Show |
a0001a0002a0003others(82): Show | a0001c0001a0001c0008a0001c0020others(139): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(140): Show | a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0178 others(152): Show |
155 | 249 | 0.6225 | -21 | c.253 others(38): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540963 | ATGGGTGG others(14): Show |
A | intron_variant | MODIFIER | HG02895.hp1 NA19062.hp2 |
a0003a0132 | a0003c0103a0132c0035 | a0003c0103t0001a0132c0035t0001 | a0003c0103t0001g0111 a0132c0035t0001g0043 |
2 | 186 | 0.0108 | -21 | c.253 others(40): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(14): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0207 | 1 | 103 | 0.0097 | -21 | c.190 others(40): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02647.hp1 NA18950.hp1 NA18964.hp1 others(1): Show |
a0001a0048 | a0001c0001a0001c0026a0001c0086others(1): Show | a0001c0001t0001a0001c0026t0001a0001c0086t0001others(1): Show | a0001c0001t0001g0208 a0001c0026t0001g0145 a0001c0086t0001g0153 others(1): Show |
4 | 30 | 0.1333 | -21 | c.106 others(42): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(22): Show |
a0004a0007a0021others(4): Show | a0004c0007a0004c0027a0004c0028others(11): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(13): Show | a0004c0007t0001g0165 a0004c0007t0001g0167 a0004c0007t0001g0168 others(22): Show |
25 | 54 | 0.4630 | -21 | c.832 others(38): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84553360 | TTTTCTTT others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG02922.hp2 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0028a0002c0004a0002c0033others(3): Show | a0001c0028t0001a0002c0004t0001a0002c0033t0001others(3): Show | a0001c0028t0001g0017 a0002c0004t0001g0013 a0002c0033t0001g0050 others(3): Show |
6 | 36 | 0.1667 | -21 | c.160 others(38): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11809755 | TGTAAGTA others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG01978.hp1 others(11): Show |
a0001a0003a0006others(8): Show | a0001c0001a0001c0002a0001c0099others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0099t0001others(11): Show | a0001c0001t0001g0088 a0001c0002t0001g0145 a0001c0099t0001g0095 others(11): Show |
14 | 176 | 0.0795 | -21 | c.858 others(38): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 44/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11812007 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02717.hp1 NA20129.hp2 |
a0018a0046 | a0018c0017a0046c0087 | a0018c0017t0001a0046c0087t0001 | a0018c0017t0001g0014 a0046c0087t0001g0120 |
2 | 174 | 0.0115 | -21 | c.870 others(40): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11812009 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0073 | a0073c0026 | a0073c0026t0001 | a0073c0026t0001g0164 | 1 | 174 | 0.0057 | -21 | c.870 others(40): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11812011 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 |
a0002a0021 | a0002c0125a0021c0049 | a0002c0125t0001a0021c0049t0001 | a0002c0125t0001g0152 a0021c0049t0001g0159 |
2 | 167 | 0.0120 | -21 | c.870 others(40): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 45/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAJB13_chr11_73946026_73975281 | 73952885 | ATGCATGT others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01081.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0244 a0001c0001t0001g0247 others(26): Show |
45 | 434 | 0.1037 | -21 | c.68+ others(36): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNAJC15_chr13_43018586_43119213 | 43099782 | AATTCTTT others(14): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01192.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0001c0001t0020a0001c0001t0021others(7): Show | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 others(28): Show |
34 | 350 | 0.0971 | -21 | c.383 others(38): Show |
DNAJC15 | ENSG00000120675.6 | transcript | ENST00000379221.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAJC3_chr13_95672139_95799988 | 95793363 | CAGCCTGG others(14): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(89): Show |
92 | 372 | 0.2473 | -21 | c.*23 others(32): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 12/12 | 2336 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAJC7_chr17_41971435_42022439 | 41986047 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 9 | 0.1111 | -21 | c.101 others(40): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
DNAJC7_chr17_41971435_42022439 | 42021414 | TACATTCA others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 336 | 0.0030 | -21 | c.-40 others(32): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 3976 | chr17 | TogoVar | |||||||
DNASE1L2_chr16_2231444_2243711 | 2243079 | GCGCAGTG others(14): Show |
G | downstream_gene_variant | MODIFIER | NA19058.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001 | 1 | 410 | 0.0024 | -21 | c.*46 others(32): Show |
DNASE1L2 | ENSG00000167968.13 | transcript | ENST00000320700.10 | protein_coding | 4369 | chr16 | TogoVar |