view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMTN_chr8_22051814_22087525 | 22073637 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0112a0001c0001t0003g0091 | 2 | 324 | 0.0062 | -20 | c.730 others(33): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02615.hp2 others(5): Show |
a0001a0026a0027 | a0001c0004a0026c0025a0027c0022 | a0001c0004t0003a0026c0025t0003a0027c0022t0003 | a0001c0004t0003g0005a0001c0004t0003g0007a0001c0004t0003g0009others(5): Show | 8 | 238 | 0.0336 | -20 | c.88- others(35): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68448948 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(32): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009 | a0001c0003t0003g0001a0001c0003t0003g0002a0001c0003t0003g0047others(30): Show | 35 | 326 | 0.1074 | -20 | c.939 others(37): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 6/20 | chr10 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 742821 | CGCTCAAA others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0024others(19): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0014others(31): Show | a0001c0001t0003g0320a0001c0001t0004g0157a0001c0001t0004g0158others(219): Show | 243 | 378 | 0.6429 | -20 | c.102 others(39): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107204749 | TTTAAATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG02976.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039a0001c0001t0001g0131a0001c0001t0001g0132others(7): Show | 10 | 296 | 0.0338 | -20 | c.-19 others(31): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1861 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204873 | TTTAAATA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG02897.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030a0001c0001t0001g0130a0001c0001t0001g0194others(7): Show | 10 | 296 | 0.0338 | -20 | c.-18 others(31): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1737 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107220902 | CCTTTCTT others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0054others(4): Show | 8 | 296 | 0.0270 | -20 | c.333 others(37): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107220941 | TTCTTTCT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0173a0001c0001t0001g0175others(34): Show | 52 | 296 | 0.1757 | -20 | c.333 others(37): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3255772 | AACCTTGC others(13): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0319 | 1 | 362 | 0.0028 | -20 | c.326 others(37): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 34/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3344590 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0009 | 1 | 362 | 0.0028 | -20 | c.790 others(35): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3350136 | CACAGACA others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 HG03453.hp1 others(1): Show |
a0001a0007 | a0001c0003a0007c0021 | a0001c0003t0004a0001c0003t0009a0007c0021t0004 | a0001c0003t0004g0043a0001c0003t0009g0059a0001c0003t0009g0060others(1): Show | 4 | 362 | 0.0111 | -20 | c.691 others(37): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123886480 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 170 | 0.0059 | -20 | c.882 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 51/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21804082 | TTTTTGTT others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02809.hp2 others(4): Show |
a0015a0030a0079others(3): Show | a0015c0123a0030c0013a0079c0170others(3): Show | a0015c0123t0004a0030c0013t0001a0079c0170t0001others(3): Show | a0015c0123t0004g0071a0030c0013t0001g0089a0030c0013t0001g0101others(4): Show | 7 | 298 | 0.0235 | -20 | c.101 others(41): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 62/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0020 | a0020c0019 | a0020c0019t0001 | a0020c0019t0001g0005 | 1 | 266 | 0.0038 | -20 | c.113 others(39): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57301677 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0180a0026c0020t0004g0219 | 2 | 266 | 0.0075 | -20 | c.113 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225049760 | GTCTATCT others(13): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03669.hp1 others(1): Show |
a0021a0036a0037 | a0021c0034a0036c0120a0037c0121 | a0021c0034t0001a0036c0120t0001a0037c0121t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088others(1): Show | 4 | 240 | 0.0167 | -20 | c.191 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225276971 | AAGGAAGG others(13): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0025 | a0025c0021 | a0025c0021t0001 | a0025c0021t0001g0019 | 1 | 240 | 0.0042 | -20 | c.817 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225276983 | AAGGGAGG others(13): Show |
A | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03669.hp1 others(1): Show |
a0021a0036a0037 | a0021c0034a0036c0120a0037c0121 | a0021c0034t0001a0036c0120t0001a0037c0121t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088others(1): Show | 4 | 240 | 0.0167 | -20 | c.817 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG03239.hp2 others(1): Show |
a0030a0068a0085 | a0030c0028a0068c0062a0085c0087 | a0030c0028t0001a0068c0062t0001a0085c0087t0001 | a0030c0028t0001g0193a0030c0028t0001g0194a0068c0062t0001g0231others(1): Show | 4 | 240 | 0.0167 | -20 | c.846 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335868 | TACACATA others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02027.hp1 others(22): Show |
a0010a0021a0022others(14): Show | a0010c0010a0021c0034a0022c0023others(15): Show | a0010c0010t0001a0021c0034t0001a0022c0023t0001others(15): Show | a0010c0010t0001g0030a0010c0010t0001g0031a0010c0010t0001g0032others(22): Show | 25 | 240 | 0.1042 | -20 | c.100 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335874 | TATACATA others(13): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0105 | a0105c0038 | a0105c0038t0001 | a0105c0038t0001g0210 | 1 | 240 | 0.0042 | -20 | c.100 others(41): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225374145 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(12): Show |
a0003a0013a0017others(6): Show | a0003c0002a0013c0014a0017c0015others(6): Show | a0003c0002t0001a0013c0014t0001a0017c0015t0001others(6): Show | a0003c0002t0001g0106a0003c0002t0001g0117a0003c0002t0001g0121others(12): Show | 15 | 240 | 0.0625 | -20 | c.123 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78433939 | AGGAGGGA others(13): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG02055.hp1 HG02559.hp2 others(8): Show |
a0002a0004a0005others(7): Show | a0002c0050a0004c0199a0005c0226others(7): Show | a0002c0050t0002a0004c0199t0002a0005c0226t0002others(7): Show | a0002c0050t0002g0004a0004c0199t0002g0141a0005c0226t0002g0079others(8): Show | 11 | 252 | 0.0437 | -20 | c.122 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(25): Show |
a0001a0002a0003others(20): Show | a0001c0058a0001c0059a0001c0111others(24): Show | a0001c0058t0001a0001c0059t0001a0001c0111t0001others(24): Show | a0001c0058t0001g0240a0001c0059t0001g0113a0001c0111t0001g0069others(25): Show | 28 | 252 | 0.1111 | -20 | c.775 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540899 | GTGGGTGG others(13): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0068 | a0068c0055 | a0068c0055t0001 | a0068c0055t0001g0007 | 1 | 252 | 0.0040 | -20 | c.253 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540919 | ATGGGTGG others(13): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0085 | a0003c0085t0001 | a0003c0085t0001g0022 | 1 | 252 | 0.0040 | -20 | c.253 others(39): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH1_chr3_52311319_52405492 | 52327711 | GCAGTGGA others(13): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0023 | a0023c0046 | a0023c0046t0001 | a0023c0046t0001g0156 | 1 | 182 | 0.0055 | -20 | c.739 others(35): Show |
DNAH1 | ENSG00000114841.18 | transcript | ENST00000420323.7 | protein_coding | 5/77 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741236 | CTCTTTCT others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0030 | a0030c0030 | a0030c0030t0003 | a0030c0030t0003g0305 | 1 | 316 | 0.0032 | -20 | c.168 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749306 | CCCAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0178 | 1 | 316 | 0.0032 | -20 | c.190 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG03486.hp1 HG03704.hp1 HG04204.hp2 others(2): Show |
a0001a0028a0044 | a0001c0002a0001c0011a0001c0095others(2): Show | a0001c0002t0001a0001c0011t0001a0001c0095t0001others(2): Show | a0001c0002t0001g0147a0001c0011t0001g0125a0001c0095t0001g0079others(2): Show | 5 | 234 | 0.0214 | -20 | c.106 others(41): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0024 | a0024c0045 | a0024c0045t0001 | a0024c0045t0001g0104 | 1 | 234 | 0.0043 | -20 | c.832 others(37): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13798736 | TTTATTTT others(13): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02647.hp1 others(3): Show |
a0027a0057a0084others(3): Show | a0027c0147a0057c0194a0084c0047others(3): Show | a0027c0147t0006a0057c0194t0002a0084c0047t0004others(3): Show | a0027c0147t0006g0188a0057c0194t0002g0222a0084c0047t0004g0236others(3): Show | 6 | 252 | 0.0238 | -20 | c.788 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13798740 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0080 | a0003c0080t0002 | a0003c0080t0002g0061 | 1 | 252 | 0.0040 | -20 | c.788 others(39): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13842423 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0131 | a0131c0174 | a0131c0174t0008 | a0131c0174t0008g0177 | 1 | 252 | 0.0040 | -20 | c.527 others(37): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84692417 | GTAGATAG others(13): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0084 | 1 | 116 | 0.0086 | -20 | c.729 others(39): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 45/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740597 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0044 | a0044c0031 | a0044c0031t0001 | a0044c0031t0001g0016 | 1 | 256 | 0.0039 | -20 | c.118 others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195740601 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0256 | 1 | 256 | 0.0039 | -20 | c.118 others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195740603 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0244a0005c0007t0006g0245 | 2 | 256 | 0.0078 | -20 | c.118 others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195874099 | TTAGGGTA others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 HG02257.hp2 others(5): Show |
a0013a0018a0049 | a0013c0016a0018c0018a0049c0026 | a0013c0016t0001a0018c0018t0001a0049c0026t0001 | a0013c0016t0001g0031a0013c0016t0001g0034a0013c0016t0001g0035others(5): Show | 8 | 256 | 0.0313 | -20 | c.628 others(37): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 38/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195990854 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0036 | a0036c0034 | a0036c0034t0001 | a0036c0034t0001g0086 | 1 | 256 | 0.0039 | -20 | c.135 others(39): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 12/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38874243 | CCCCTTCC others(13): Show |
C | intron_variant | MODIFIER | NA18963.hp1 NA18971.hp1 NA20905.hp1 |
a0017 | a0017c0025 | a0017c0025t0002 | a0017c0025t0002g0111a0017c0025t0002g0125a0017c0025t0002g0278 | 3 | 284 | 0.0106 | -20 | c.762 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38874293 | CCCCTCCC others(13): Show |
C | intron_variant | MODIFIER | NA18966.hp1 | a0072 | a0072c0073 | a0072c0073t0001 | a0072c0073t0001g0214 | 1 | 284 | 0.0035 | -20 | c.762 others(37): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38925286 | ATTATTTT others(13): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0023 | a0023c0039 | a0023c0039t0001 | a0023c0039t0001g0244 | 1 | 284 | 0.0035 | -20 | c.109 others(39): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 73/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38965065 | AAAAATAA others(13): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0102 | a0001c0102t0004 | a0001c0102t0004g0026 | 1 | 284 | 0.0035 | -20 | c.124 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 39010817 | ACACGTAT others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(47): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0038a0002c0010others(18): Show | a0001c0007t0001a0001c0007t0002a0001c0038t0001others(21): Show | a0001c0007t0001g0073a0001c0007t0001g0117a0001c0007t0001g0176others(47): Show | 50 | 284 | 0.1761 | -20 | c.133 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 89/92 | chr6 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 39013854 | AAGAGAGA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG01891.hp1 others(37): Show |
a0001a0006a0007others(15): Show | a0001c0036a0001c0102a0006c0005others(21): Show | a0001c0036t0001a0001c0102t0004a0006c0005t0001others(21): Show | a0001c0036t0001g0070a0001c0102t0004g0026a0006c0005t0001g0032others(37): Show | 40 | 284 | 0.1409 | -20 | c.137 others(41): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 91/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11707959 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02451.hp2 HG02735.hp1 others(6): Show |
a0001a0002a0014others(5): Show | a0001c0002a0002c0015a0002c0123others(6): Show | a0001c0002t0001a0002c0015t0001a0002c0123t0001others(6): Show | a0001c0002t0001g0023a0002c0015t0001g0149a0002c0123t0001g0098others(6): Show | 9 | 178 | 0.0506 | -20 | c.555 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11707996 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0117 | a0001c0117t0001 | a0001c0117t0001g0027 | 1 | 178 | 0.0056 | -20 | c.555 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11707998 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG01978.hp1 others(14): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0012a0003c0006others(14): Show | a0001c0001t0001a0001c0012t0001a0003c0006t0001others(14): Show | a0001c0001t0001g0124a0001c0012t0001g0035a0003c0006t0001g0042others(14): Show | 17 | 178 | 0.0955 | -20 | c.555 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11708002 | CACACACA others(13): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0025 | a0025c0032 | a0025c0032t0001 | a0025c0032t0001g0100 | 1 | 178 | 0.0056 | -20 | c.555 others(39): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 26/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |