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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH11_chr7_21538039_21906839 | 21574913 | C | CTCAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0046 | a0046c0129 | a0046c0129t0002 | a0046c0129t0002g0074 | 1 | 296 | 0.0034 | 13 | c.159 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 8/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21726891 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0201 | a0201c0073 | a0201c0073t0010 | a0201c0073t0010g0291 | 1 | 273 | 0.0037 | 13 | c.744 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21726935 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01070.hp2 others(25): Show |
a0001a0003a0004others(24): Show | a0001c0091a0003c0009a0003c0081others(25): Show | a0001c0091t0002a0003c0009t0002a0003c0081t0002others(25): Show | a0001c0091t0002g0015 a0003c0009t0002g0038 a0003c0081t0002g0061 others(25): Show |
28 | 94 | 0.2979 | 13 | c.744 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21763353 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(46): Show |
a0001a0002a0010others(38): Show | a0001c0110a0002c0001a0002c0002others(42): Show | a0001c0110t0005a0002c0001t0004a0002c0002t0004others(42): Show | a0001c0110t0005g0245 a0002c0001t0004g0253 a0002c0001t0004g0277 others(46): Show |
49 | 288 | 0.1701 | 13 | c.894 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 54/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03834.hp2 HG04184.hp1 others(1): Show |
a0011a0066a0169others(1): Show | a0011c0016a0066c0077a0169c0206others(1): Show | a0011c0016t0003a0066c0077t0002a0169c0206t0004others(1): Show | a0011c0016t0003g0172 a0066c0077t0002g0046 a0169c0206t0004g0173 others(1): Show |
4 | 50 | 0.0800 | 13 | c.100 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21872123 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00642.hp2 others(18): Show |
a0002a0010a0021others(15): Show | a0002c0001a0002c0002a0010c0055others(17): Show | a0002c0001t0004a0002c0002t0004a0010c0055t0003others(17): Show | a0002c0001t0004g0253 a0002c0002t0004g0297 a0010c0055t0003g0234 others(18): Show |
21 | 122 | 0.1721 | 13 | c.119 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18949.hp2 NA18961.hp1 others(1): Show |
a0001 | a0001c0001a0001c0086a0001c0087 | a0001c0001t0001a0001c0086t0001a0001c0087t0001 | a0001c0001t0001g0196 a0001c0001t0001g0225 a0001c0086t0001g0248 others(1): Show |
4 | 102 | 0.0392 | 13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp1 |
a0008a0011 | a0008c0017a0011c0069 | a0008c0017t0001a0011c0069t0001 | a0008c0017t0001g0104 a0011c0069t0001g0264 |
2 | 254 | 0.0079 | 13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 253 | 0.0040 | 13 | c.111 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0044 | a0003c0044t0001 | a0003c0044t0001g0008 | 1 | 147 | 0.0068 | 13 | c.997 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(20): Show |
a0003a0004a0009others(8): Show | a0003c0003a0004c0004a0009c0081others(8): Show | a0003c0003t0001a0004c0004t0001a0009c0081t0001others(8): Show | a0003c0003t0001g0007 a0003c0003t0001g0013 a0003c0003t0001g0018 others(20): Show |
23 | 87 | 0.2644 | 13 | c.875 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57371965 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 a0003c0003t0001g0017 |
2 | 263 | 0.0076 | 13 | c.875 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390420 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0015 | a0015c0012 | a0015c0012t0001 | a0015c0012t0001g0110 | 1 | 263 | 0.0038 | 13 | c.730 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0015 | a0015c0012 | a0015c0012t0001 | a0015c0012t0001g0108 | 1 | 82 | 0.0122 | 13 | c.730 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57421902 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01261.hp2 others(12): Show |
a0002a0003a0006others(4): Show | a0002c0002a0003c0003a0003c0044others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0044t0001others(5): Show | a0002c0002t0001g0216 a0003c0003t0001g0018 a0003c0003t0001g0027 others(12): Show |
15 | 173 | 0.0867 | 13 | c.537 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57427138 | A | ATGTGATG others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02622.hp2 HG02647.hp1 others(4): Show |
a0008a0009a0016others(2): Show | a0008c0016a0009c0014a0016c0018others(2): Show | a0008c0016t0001a0009c0014t0001a0016c0018t0001others(2): Show | a0008c0016t0001g0041 a0008c0016t0001g0045 a0009c0014t0001g0187 others(4): Show |
7 | 91 | 0.0769 | 13 | c.525 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499645 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0064 | a0011c0064t0001 | a0011c0064t0001g0076 | 1 | 246 | 0.0041 | 13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0033 | a0033c0049 | a0033c0049t0001 | a0033c0049t0001g0054 | 1 | 59 | 0.0169 | 13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03490.hp1 HG03492.hp2 others(1): Show |
a0003a0006a0025 | a0003c0003a0006c0006a0025c0022 | a0003c0003t0001a0006c0006t0001a0025c0022t0001 | a0003c0003t0001g0056 a0006c0006t0001g0050 a0025c0022t0001g0176 others(1): Show |
4 | 62 | 0.0645 | 13 | c.133 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 224991084 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03669.hp1 |
a0034a0082 | a0034c0035a0082c0117 | a0034c0035t0001a0082c0117t0001 | a0034c0035t0001g0090 a0082c0117t0001g0088 |
2 | 93 | 0.0215 | 13 | c.831 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02451.hp2 NA18984.hp2 |
a0051a0063a0097 | a0051c0047a0063c0060a0097c0053 | a0051c0047t0001a0063c0060t0001a0097c0053t0001 | a0051c0047t0001g0229 a0063c0060t0001g0223 a0097c0053t0001g0230 |
3 | 165 | 0.0182 | 13 | c.801 others(32): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78431245 | T | TCTCTGTC others(6): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0035 | a0035c0030 | a0035c0030t0001 | a0035c0030t0001g0054 | 1 | 250 | 0.0040 | 13 | c.122 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78432902 | G | GCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0094 | a0002c0094t0001 | a0002c0094t0001g0173 | 1 | 13 | 0.0769 | 13 | c.122 others(34): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78492855 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01175.hp2 others(8): Show |
a0001a0028a0043others(4): Show | a0001c0001a0001c0002a0001c0063others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0159 a0001c0001t0001g0236 a0001c0001t0003g0249 others(8): Show |
11 | 17 | 0.6471 | 13 | c.640 others(29): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 41/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78541000 | A | ATGGGTGG others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 NA21309.hp1 |
a0063a0070a0142 | a0063c0017a0070c0211a0142c0093 | a0063c0017t0001a0070c0211t0001a0142c0093t0001 | a0063c0017t0001g0078 a0070c0211t0001g0135 a0142c0093t0001g0089 |
3 | 248 | 0.0121 | 13 | c.253 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02896.hp2 |
a0005a0022 | a0005c0012a0022c0080 | a0005c0012t0002a0022c0080t0001 | a0005c0012t0002g0222 a0022c0080t0001g0112 |
2 | 50 | 0.0400 | 13 | c.239 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78548202 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02965.hp1 HG03471.hp2 |
a0003a0090 | a0003c0103a0003c0199a0090c0028 | a0003c0103t0001a0003c0199t0002a0090c0028t0001 | a0003c0103t0001g0111 a0003c0199t0002g0141 a0090c0028t0001g0116 |
3 | 90 | 0.0333 | 13 | c.239 others(32): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78553283 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02071.hp2 |
a0006a0047 | a0006c0004a0047c0152 | a0006c0004t0001a0047c0152t0001 | a0006c0004t0001g0203 a0047c0152t0001g0030 |
2 | 182 | 0.0110 | 13 | c.217 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78557636 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG02056.hp1 others(3): Show |
a0006a0011a0015others(2): Show | a0006c0004a0011c0013a0015c0163others(2): Show | a0006c0004t0001a0011c0013t0001a0015c0163t0001others(2): Show | a0006c0004t0001g0185 a0006c0004t0001g0205 a0011c0013t0001g0168 others(3): Show |
6 | 104 | 0.0577 | 13 | c.217 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7714166 | T | TGTGTGTG others(6): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0054 | a0054c0088 | a0054c0088t0002 | a0054c0088t0002g0034 | 1 | 311 | 0.0032 | 13 | c.-46 others(24): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3577 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20957808 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 27 | 0.0370 | 13 | c.106 others(34): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20966014 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0060 | a0005c0060t0001 | a0005c0060t0001g0116 | 1 | 30 | 0.0333 | 13 | c.832 others(30): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20984029 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG02155.hp1 others(6): Show |
a0004a0029a0049 | a0004c0007a0004c0081a0029c0062others(1): Show | a0004c0007t0001a0004c0081t0001a0029c0062t0001others(1): Show | a0004c0007t0001g0165 a0004c0007t0001g0167 a0004c0007t0001g0168 others(6): Show |
9 | 114 | 0.0789 | 13 | c.755 others(32): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 48/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21018441 | T | TCTTACTT others(6): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 232 | 0.0043 | 13 | c.588 others(32): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020398 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0036 | a0036c0096 | a0036c0096t0001 | a0036c0096t0001g0074 | 1 | 163 | 0.0061 | 13 | c.563 others(30): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21139320 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18968.hp1 NA18968.hp2 |
a0001a0013 | a0001c0001a0001c0002a0013c0036 | a0001c0001t0001a0001c0002t0001a0013c0036t0001 | a0001c0001t0001g0206 a0001c0002t0001g0230 a0013c0036t0001g0050 |
3 | 44 | 0.0682 | 13 | c.609 others(30): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 6/61 | chr16 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02886.hp2 |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0001a0008c0018t0002 | a0001c0001t0001g0045 a0008c0018t0002g0093 |
2 | 17 | 0.1176 | 13 | c.160 others(28): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84663490 | G | GAGAGATT others(6): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 NA18906.hp2 others(1): Show |
a0009a0021 | a0009c0011a0021c0041 | a0009c0011t0001a0021c0041t0001 | a0009c0011t0001g0047 a0009c0011t0001g0064 a0009c0011t0001g0072 others(1): Show |
4 | 114 | 0.0351 | 13 | c.608 others(32): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | chr2 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84753755 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0014 | a0014c0027 | a0014c0027t0001 | a0014c0027t0001g0016 | 1 | 36 | 0.0278 | 13 | c.105 others(34): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 63/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 65 | 0.0154 | 13 | c.114 others(34): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195906423 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0039 | a0039c0029 | a0039c0029t0003 | a0039c0029t0003g0020 | 1 | 236 | 0.0042 | 13 | c.433 others(30): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 27/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195950868 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02896.hp1 HG03139.hp2 others(2): Show |
a0006a0008 | a0006c0007a0006c0062a0008c0010 | a0006c0007t0006a0006c0062t0005a0008c0010t0005 | a0006c0007t0006g0254 a0006c0007t0006g0256 a0006c0062t0005g0244 others(2): Show |
5 | 240 | 0.0208 | 13 | c.307 others(32): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 19/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18956.hp1 |
a0006a0033 | a0006c0003a0033c0062 | a0006c0003t0002a0033c0062t0001 | a0006c0003t0002g0160 a0033c0062t0001g0154 |
2 | 102 | 0.0196 | 13 | c.-35 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02976.hp1 NA18942.hp1 |
a0005a0049a0056 | a0005c0023a0049c0104a0056c0120 | a0005c0023t0001a0049c0104t0001a0056c0120t0001 | a0005c0023t0001g0214 a0049c0104t0001g0008 a0056c0120t0001g0006 |
3 | 103 | 0.0291 | 13 | c.-35 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38772971 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp2 HG04199.hp2 |
a0011a0056a0059 | a0011c0119a0056c0120a0059c0083 | a0011c0119t0001a0056c0120t0001a0059c0083t0001 | a0011c0119t0001g0250 a0056c0120t0001g0006 a0059c0083t0001g0026 |
3 | 67 | 0.0448 | 13 | c.176 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38818537 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01109.hp2 others(16): Show |
a0001a0003a0005others(6): Show | a0001c0035a0003c0006a0003c0015others(10): Show | a0001c0035t0001a0003c0006t0001a0003c0015t0001others(10): Show | a0001c0035t0001g0028 a0003c0006t0001g0046 a0003c0006t0001g0103 others(16): Show |
19 | 90 | 0.2111 | 13 | c.352 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 26/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38827733 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 HG03486.hp1 others(5): Show |
a0005a0008a0018others(1): Show | a0005c0005a0005c0023a0005c0058others(3): Show | a0005c0005t0001a0005c0023t0001a0005c0058t0001others(4): Show | a0005c0005t0001g0203 a0005c0023t0001g0134 a0005c0058t0001g0039 others(5): Show |
8 | 33 | 0.2424 | 13 | c.408 others(30): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38932183 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0019 | a0019c0025 | a0019c0025t0002 | a0019c0025t0002g0140 | 1 | 62 | 0.0161 | 13 | c.114 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | chr6 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38932217 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0124 | 1 | 283 | 0.0035 | 13 | c.114 others(32): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 76/92 | chr6 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38944100 | A | AAACAACC others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01256.hp1 HG01358.hp2 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0134a0003c0006others(10): Show | a0001c0001t0001a0002c0134t0001a0003c0006t0001others(10): Show | a0001c0001t0001g0235 a0002c0134t0001g0127 a0003c0006t0001g0195 others(21): Show |
24 | 284 | 0.0845 | 13 | c.120 others(34): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 79/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |