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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAAF9_chr20_3244306_3412669 | 3349413 | AAGCACCT others(9): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0009 | 1 | 362 | 0.0028 | -16 | c.691 others(31): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3350121 | TCAGACAC others(9): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0004a0001c0003t0005a0001c0020t0024 | a0001c0003t0004g0013a0001c0003t0004g0023a0001c0003t0004g0026others(6): Show | 9 | 362 | 0.0249 | -16 | c.691 others(33): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3394949 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(41): Show |
a0001 | a0001c0004a0001c0018 | a0001c0004t0003a0001c0004t0018a0001c0004t0019others(3): Show | a0001c0004t0003g0069a0001c0004t0003g0074a0001c0004t0003g0078others(41): Show | 44 | 362 | 0.1216 | -16 | c.84- others(33): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123807187 | ACATCCAT others(9): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 |
a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0037a0013c0014t0001g0041 | 2 | 170 | 0.0118 | -16 | c.298 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 18/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123847143 | TATCCATC others(9): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02027.hp2 HG02559.hp1 others(13): Show |
a0001a0006a0010others(7): Show | a0001c0059a0006c0026a0006c0027others(9): Show | a0001c0059t0002a0006c0026t0002a0006c0027t0001others(9): Show | a0001c0059t0002g0014a0006c0026t0002g0079a0006c0026t0002g0081others(13): Show | 16 | 170 | 0.0941 | -16 | c.581 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123847218 | TTATCTAT others(9): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02055.hp1 HG02145.hp1 others(11): Show |
a0001a0008a0013others(7): Show | a0001c0001a0008c0008a0013c0014others(7): Show | a0001c0001t0001a0008c0008t0001a0013c0014t0001others(7): Show | a0001c0001t0001g0099a0008c0008t0001g0011a0008c0008t0001g0013others(11): Show | 14 | 170 | 0.0824 | -16 | c.581 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123847308 | TTATCTAT others(9): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp2 others(7): Show |
a0011a0012a0031others(4): Show | a0011c0028a0011c0084a0012c0021others(5): Show | a0011c0028t0001a0011c0084t0002a0012c0021t0001others(5): Show | a0011c0028t0001g0067a0011c0028t0001g0084a0011c0084t0002g0104others(7): Show | 10 | 170 | 0.0588 | -16 | c.581 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123874265 | GTCCATCC others(9): Show |
G | intron_variant | MODIFIER | HG02027.hp2 HG02280.hp1 HG02486.hp1 others(11): Show |
a0006a0007a0009others(3): Show | a0006c0026a0006c0027a0006c0083others(5): Show | a0006c0026t0002a0006c0027t0001a0006c0083t0001others(5): Show | a0006c0026t0002g0079a0006c0026t0002g0081a0006c0027t0001g0115others(11): Show | 14 | 170 | 0.0824 | -16 | c.793 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 46/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123896111 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0007a0071 | a0007c0010a0071c0085 | a0007c0010t0001a0071c0085t0001 | a0007c0010t0001g0125a0007c0010t0001g0127a0007c0010t0001g0128others(1): Show | 4 | 170 | 0.0235 | -16 | c.928 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123896148 | CAGAGAGA others(9): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0137 | 1 | 170 | 0.0059 | -16 | c.928 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912279 | CGGGGGGG others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0070 | a0070c0086 | a0070c0086t0002 | a0070c0086t0002g0156 | 1 | 170 | 0.0059 | -16 | c.101 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123921691 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG02109.hp1 others(6): Show |
a0001a0006a0023others(5): Show | a0001c0001a0001c0046a0006c0027others(6): Show | a0001c0001t0001a0001c0046t0001a0006c0027t0001others(6): Show | a0001c0001t0001g0057a0001c0046t0001g0153a0006c0027t0001g0115others(6): Show | 9 | 170 | 0.0529 | -16 | c.115 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 65/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21594063 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02071.hp1 |
a0006a0013 | a0006c0146a0013c0014 | a0006c0146t0003a0013c0014t0013 | a0006c0146t0003g0048a0013c0014t0013g0047 | 2 | 298 | 0.0067 | -16 | c.266 others(35): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21602557 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(71): Show |
a0002a0005a0006others(58): Show | a0002c0107a0002c0141a0005c0115others(69): Show | a0002c0107t0002a0002c0141t0002a0005c0115t0001others(71): Show | a0002c0107t0002g0067a0002c0141t0002g0026a0005c0115t0001g0098others(71): Show | 74 | 298 | 0.2483 | -16 | c.364 others(33): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 18/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(63): Show |
a0001a0009a0011others(50): Show | a0001c0001a0001c0002a0001c0051others(55): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(56): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(63): Show | 66 | 298 | 0.2215 | -16 | c.744 others(35): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21765610 | TCACACAC others(9): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01884.hp1 others(10): Show |
a0007a0012a0037others(10): Show | a0007c0112a0012c0169a0037c0226others(10): Show | a0007c0112t0006a0012c0169t0008a0037c0226t0001others(10): Show | a0007c0112t0006g0094a0012c0169t0008g0116a0037c0226t0001g0136others(10): Show | 13 | 298 | 0.0436 | -16 | c.910 others(31): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21901502 | AAGGTTGC others(9): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02071.hp1 HG02129.hp2 NA18955.hp1 others(1): Show |
a0013a0018a0184 | a0013c0014a0018c0017a0184c0276 | a0013c0014t0013a0018c0017t0011a0184c0276t0013 | a0013c0014t0013g0047a0018c0017t0011g0170a0018c0017t0011g0171others(1): Show | 4 | 298 | 0.0134 | -16 | c.*25 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 257 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
DNAH12_chr3_57288700_57549344 | 57301677 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02132.hp2 HG02717.hp1 others(1): Show |
a0004a0012 | a0004c0004a0012c0010 | a0004c0004t0001a0012c0010t0002 | a0004c0004t0001g0105a0012c0010t0002g0253a0012c0010t0002g0259others(1): Show | 4 | 266 | 0.0150 | -16 | c.113 others(33): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57356444 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0061 | a0061c0054 | a0061c0054t0001 | a0061c0054t0001g0265 | 1 | 266 | 0.0038 | -16 | c.953 others(33): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 59/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0061 | a0061c0054 | a0061c0054t0001 | a0061c0054t0001g0265 | 1 | 266 | 0.0038 | -16 | c.279 others(33): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225000563 | GTTCTTTT others(9): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0064 | a0064c0049 | a0064c0049t0001 | a0064c0049t0001g0096 | 1 | 240 | 0.0042 | -16 | c.831 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225049047 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 |
a0059a0065 | a0059c0057a0065c0047 | a0059c0057t0001a0065c0047t0001 | a0059c0057t0001g0232a0065c0047t0001g0233 | 2 | 240 | 0.0083 | -16 | c.191 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTCT others(9): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0068 | a0068c0062 | a0068c0062t0001 | a0068c0062t0001g0231 | 1 | 240 | 0.0042 | -16 | c.242 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225094666 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(51): Show |
a0002a0004a0012others(20): Show | a0002c0003a0002c0025a0002c0073others(24): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(25): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(51): Show | 54 | 240 | 0.2250 | -16 | c.357 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225276975 | AAGGAAGG others(9): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03471.hp2 NA18522.hp2 |
a0024a0026 | a0024c0056a0026c0020 | a0024c0056t0001a0026c0020t0001 | a0024c0056t0001g0224a0026c0020t0001g0009a0026c0020t0001g0020 | 3 | 240 | 0.0125 | -16 | c.817 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG02015.hp1 NA18941.hp1 NA20300.hp2 |
a0001a0007a0034 | a0001c0001a0007c0009a0034c0101 | a0001c0001t0001a0007c0009t0001a0034c0101t0001 | a0001c0001t0001g0170a0007c0009t0001g0006a0034c0101t0001g0203 | 3 | 240 | 0.0125 | -16 | c.846 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290647 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0114 | 1 | 240 | 0.0042 | -16 | c.846 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335141 | ACATGTGT others(9): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0108 | a0108c0045 | a0108c0045t0001 | a0108c0045t0001g0045 | 1 | 240 | 0.0042 | -16 | c.100 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335149 | ACATGTGT others(9): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0121 | 1 | 240 | 0.0042 | -16 | c.100 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335931 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01123.hp2 others(11): Show |
a0006a0026a0030others(7): Show | a0006c0006a0026c0020a0030c0028others(7): Show | a0006c0006t0001a0026c0020t0001a0030c0028t0001others(7): Show | a0006c0006t0001g0137a0006c0006t0001g0138a0006c0006t0001g0143others(11): Show | 14 | 240 | 0.0583 | -16 | c.100 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78420516 | CTGGGCCT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02922.hp1 others(1): Show |
a0046a0092a0106others(1): Show | a0046c0116a0092c0092a0106c0205others(1): Show | a0046c0116t0001a0092c0092t0001a0106c0205t0001others(1): Show | a0046c0116t0001g0075a0092c0092t0001g0134a0106c0205t0001g0145others(1): Show | 4 | 252 | 0.0159 | -16 | c.*33 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 3180 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78436844 | CCAAACAA others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0135 | a0135c0194 | a0135c0194t0007 | a0135c0194t0007g0107 | 1 | 252 | 0.0040 | -16 | c.120 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 74/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78437879 | GACTAGAG others(9): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0077 | a0077c0143 | a0077c0143t0001 | a0077c0143t0001g0232 | 1 | 252 | 0.0040 | -16 | c.118 others(33): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(39): Show |
a0001a0002a0003others(35): Show | a0001c0040a0001c0126a0001c0138others(39): Show | a0001c0040t0001a0001c0126t0001a0001c0138t0001others(39): Show | a0001c0040t0001g0054a0001c0126t0001g0056a0001c0138t0001g0226others(39): Show | 42 | 252 | 0.1667 | -16 | c.775 others(33): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78540903 | GTGGGTGG others(9): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01070.hp1 others(3): Show |
a0001a0004a0008others(1): Show | a0001c0002a0004c0036a0008c0066others(1): Show | a0001c0002t0001a0001c0002t0004a0004c0036t0001others(2): Show | a0001c0002t0001g0205a0001c0002t0004g0001a0001c0002t0004g0002others(3): Show | 6 | 252 | 0.0238 | -16 | c.253 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541058 | GTGGGTGG others(9): Show |
G | intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 NA20905.hp1 |
a0011a0067a0085 | a0011c0207a0067c0056a0085c0206 | a0011c0207t0001a0067c0056t0001a0085c0206t0006 | a0011c0207t0001g0117a0067c0056t0001g0070a0085c0206t0006g0064 | 3 | 252 | 0.0119 | -16 | c.253 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0034 | a0034c0073 | a0034c0073t0001 | a0034c0073t0001g0074 | 1 | 252 | 0.0040 | -16 | c.217 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7741236 | CTCTTTCT others(9): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0030 | a0030c0030 | a0030c0030t0003 | a0030c0030t0003g0302 | 1 | 316 | 0.0032 | -16 | c.168 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7772658 | AAGGCCTG others(9): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0110 | 1 | 316 | 0.0032 | -16 | c.450 others(35): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 28/85 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7793447 | TTTTCTTT others(9): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0013 | a0013c0022 | a0013c0022t0003 | a0013c0022t0003g0276 | 1 | 316 | 0.0032 | -16 | c.756 others(33): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20959610 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0010 | a0010c0056 | a0010c0056t0001 | a0010c0056t0001g0135 | 1 | 234 | 0.0043 | -16 | c.104 others(35): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 53/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA20300.hp2 |
a0001 | a0001c0011a0001c0095 | a0001c0011t0001a0001c0095t0001 | a0001c0011t0001g0125a0001c0095t0001g0079 | 2 | 234 | 0.0086 | -16 | c.832 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21064860 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 |
a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0146a0019c0023t0001g0190 | 2 | 234 | 0.0086 | -16 | c.338 others(35): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 24/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21131877 | GGAGAGAA others(9): Show |
G | intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0064 | 1 | 234 | 0.0043 | -16 | c.995 others(33): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 8/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778584 | AAGAAAGA others(9): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0116 | a0116c0139 | a0116c0139t0002 | a0116c0139t0002g0199 | 1 | 252 | 0.0040 | -16 | c.895 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13798736 | TTTATTTT others(9): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp2 others(10): Show |
a0008a0009a0020others(6): Show | a0008c0063a0008c0065a0009c0170others(9): Show | a0008c0063t0006a0008c0065t0002a0009c0170t0002others(9): Show | a0008c0063t0006g0151a0008c0065t0002g0016a0009c0170t0002g0115others(10): Show | 13 | 252 | 0.0516 | -16 | c.788 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13798740 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02055.hp1 HG02559.hp2 others(8): Show |
a0011a0052a0061others(5): Show | a0011c0011a0011c0072a0011c0082others(7): Show | a0011c0011t0002a0011c0072t0002a0011c0082t0002others(7): Show | a0011c0011t0002g0080a0011c0011t0002g0157a0011c0072t0002g0079others(8): Show | 11 | 252 | 0.0437 | -16 | c.788 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 47/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13837692 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02559.hp2 others(14): Show |
a0011a0023a0042others(11): Show | a0011c0011a0011c0072a0011c0082others(13): Show | a0011c0011t0002a0011c0072t0002a0011c0082t0002others(13): Show | a0011c0011t0002g0080a0011c0011t0002g0157a0011c0072t0002g0079others(14): Show | 17 | 252 | 0.0675 | -16 | c.588 others(35): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 35/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842423 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02257.hp2 others(2): Show |
a0035a0043a0066others(2): Show | a0035c0025a0043c0032a0066c0071others(2): Show | a0035c0025t0006a0043c0032t0001a0066c0071t0002others(2): Show | a0035c0025t0006g0149a0043c0032t0001g0129a0066c0071t0002g0081others(2): Show | 5 | 252 | 0.0198 | -16 | c.527 others(33): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84668842 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG01884.hp2 | a0009 | a0009c0046 | a0009c0046t0001 | a0009c0046t0001g0094 | 1 | 116 | 0.0086 | -16 | c.608 others(33): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |