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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02970.hp1 |
a0006a0130 | a0006c0155a0130c0067 | a0006c0155t0003a0130c0067t0014 | a0006c0155t0003g0022a0130c0067t0014g0081 | 2 | 298 | 0.0067 | 28 | c.100 others(47): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02155.hp2 NA19085.hp2 |
a0118a0147a0201 | a0118c0053a0147c0126a0201c0208 | a0118c0053t0001a0147c0126t0002a0201c0208t0006 | a0118c0053t0001g0102a0147c0126t0002g0042a0201c0208t0006g0177 | 3 | 298 | 0.0101 | 28 | c.100 others(47): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 266 | 0.0038 | 28 | c.111 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 266 | 0.0038 | 28 | c.111 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0070 | a0070c0055 | a0070c0055t0002 | a0070c0055t0002g0016 | 1 | 266 | 0.0038 | 28 | c.997 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(21): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01243.hp2 HG02895.hp2 others(2): Show |
a0011a0014a0043 | a0011c0043a0014c0014a0043c0037 | a0011c0043t0002a0014c0014t0001a0043c0037t0001 | a0011c0043t0002g0079a0014c0014t0001g0187a0014c0014t0001g0198others(2): Show | 5 | 266 | 0.0188 | 28 | c.936 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(21): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0066 | 1 | 266 | 0.0038 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0072 | 1 | 266 | 0.0038 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389839 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0012 | a0012c0010 | a0012c0010t0002 | a0012c0010t0002g0253 | 1 | 266 | 0.0038 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389839 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19240.hp1 |
a0012a0047 | a0012c0010a0047c0051 | a0012c0010t0002a0047c0051t0001 | a0012c0010t0002g0260a0047c0051t0001g0258 | 2 | 266 | 0.0075 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0061 | a0061c0054 | a0061c0054t0001 | a0061c0054t0001g0265 | 1 | 266 | 0.0038 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0246 | 2 | 266 | 0.0075 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0049 | a0049c0095 | a0049c0095t0001 | a0049c0095t0001g0251 | 1 | 266 | 0.0038 | 28 | c.730 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0081 | 1 | 266 | 0.0038 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0181 | 1 | 266 | 0.0038 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18962.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0197a0005c0005t0001g0240 | 2 | 266 | 0.0075 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0058 | 1 | 266 | 0.0038 | 28 | c.133 others(47): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225176561 | G | GTATGTAA others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(52): Show |
a0001a0010a0011others(15): Show | a0001c0001a0001c0008a0010c0010others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(18): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(52): Show | 55 | 240 | 0.2292 | 28 | c.553 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 36/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335437 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG02132.hp1 others(9): Show |
a0002a0018a0027others(3): Show | a0002c0003a0002c0025a0018c0017others(4): Show | a0002c0003t0001a0002c0025t0002a0018c0017t0001others(4): Show | a0002c0003t0001g0059a0002c0003t0001g0068a0002c0003t0001g0076others(9): Show | 12 | 240 | 0.0500 | 28 | c.100 others(49): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335551 | A | ACATATAT others(21): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0037 | a0037c0121 | a0037c0121t0001 | a0037c0121t0001g0091 | 1 | 240 | 0.0042 | 28 | c.100 others(49): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(21): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18950.hp2 NA18984.hp2 |
a0004a0012a0061 | a0004c0004a0012c0074a0061c0052 | a0004c0004t0001a0012c0074t0001a0061c0052t0001 | a0004c0004t0001g0049a0012c0074t0001g0044a0061c0052t0001g0230 | 3 | 240 | 0.0125 | 28 | c.123 others(47): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78433923 | A | AGGAAGGA others(21): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0053 | a0005c0053t0001 | a0005c0053t0001g0176 | 1 | 252 | 0.0040 | 28 | c.122 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78472244 | A | AGGGGTGC others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0094 | a0094c0093 | a0094c0093t0001 | a0094c0093t0001g0089 | 1 | 252 | 0.0040 | 28 | c.851 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78472272 | A | AGGGGTGC others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(46): Show |
a0001a0003a0004others(27): Show | a0001c0001a0001c0008a0001c0064others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(37): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0001t0001g0178others(46): Show | 49 | 252 | 0.1944 | 28 | c.851 others(47): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78543287 | G | GTATTTTT others(21): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0103 | a0103c0075 | a0103c0075t0001 | a0103c0075t0001g0011 | 1 | 252 | 0.0040 | 28 | c.253 others(45): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0100 | a0100c0084 | a0100c0084t0001 | a0100c0084t0001g0177 | 1 | 252 | 0.0040 | 28 | c.239 others(45): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725425 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02559.hp2 HG03195.hp2 others(1): Show |
a0001a0060 | a0001c0006a0001c0046a0001c0063others(1): Show | a0001c0006t0001a0001c0046t0004a0001c0063t0001others(1): Show | a0001c0006t0001g0091a0001c0046t0004g0230a0001c0063t0001g0249others(1): Show | 4 | 316 | 0.0127 | 28 | c.229 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0008 | a0008c0026 | a0008c0026t0002 | a0008c0026t0002g0008 | 1 | 316 | 0.0032 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0055 | a0055c0125 | a0055c0125t0003 | a0055c0125t0003g0294 | 1 | 316 | 0.0032 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741295 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | NA19062.hp2 NA19091.hp2 |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0135a0009c0012t0001g0140 | 2 | 316 | 0.0063 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0008 | a0008c0026 | a0008c0026t0002 | a0008c0026t0002g0058 | 1 | 316 | 0.0032 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0028 | a0028c0034 | a0028c0034t0002 | a0028c0034t0002g0005 | 1 | 316 | 0.0032 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0157 | 1 | 316 | 0.0032 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7741323 | C | CTCCCTCC others(21): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0067 | a0067c0070 | a0067c0070t0001 | a0067c0070t0001g0250 | 1 | 316 | 0.0032 | 28 | c.168 others(45): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7838420 | A | AGGCAGAG others(21): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0007 | a0007c0041 | a0007c0041t0001 | a0007c0041t0001g0101 | 1 | 316 | 0.0032 | 28 | c.*48 others(39): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4679 | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTAT others(21): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG02717.hp1 others(3): Show |
a0001a0008a0010 | a0001c0002a0001c0066a0001c0074others(2): Show | a0001c0002t0001a0001c0066t0001a0001c0074t0001others(2): Show | a0001c0002t0001g0149a0001c0002t0001g0196a0001c0066t0001g0228others(3): Show | 6 | 234 | 0.0256 | 28 | c.563 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020348 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02735.hp1 NA19010.hp1 |
a0002a0027 | a0002c0004a0002c0006a0027c0040 | a0002c0004t0002a0002c0006t0001a0027c0040t0001 | a0002c0004t0002g0016a0002c0006t0001g0113a0027c0040t0001g0110 | 3 | 234 | 0.0128 | 28 | c.563 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020397 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0105 | 1 | 234 | 0.0043 | 28 | c.563 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21067776 | G | GGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 NA18950.hp2 NA18989.hp2 others(1): Show |
a0002a0004a0054 | a0002c0004a0002c0006a0004c0098others(1): Show | a0002c0004t0001a0002c0006t0001a0004c0098t0001others(1): Show | a0002c0004t0001g0028a0002c0006t0001g0071a0004c0098t0001g0061others(1): Show | 4 | 234 | 0.0171 | 28 | c.324 others(45): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713438 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0010 | a0010c0002 | a0010c0002t0019 | a0010c0002t0019g0228 | 1 | 252 | 0.0040 | 28 | c.131 others(47): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842433 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01361.hp1 others(2): Show |
a0004a0019a0024others(2): Show | a0004c0121a0019c0018a0024c0111others(2): Show | a0004c0121t0001a0019c0018t0003a0024c0111t0007others(2): Show | a0004c0121t0001g0093a0019c0018t0003g0246a0024c0111t0007g0008others(2): Show | 5 | 252 | 0.0198 | 28 | c.527 others(45): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842437 | A | AAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02486.hp2 HG03453.hp1 |
a0007a0027a0102 | a0007c0068a0027c0147a0102c0062 | a0007c0068t0001a0027c0147t0006a0102c0062t0002 | a0007c0068t0001g0156a0027c0147t0006g0188a0102c0062t0002g0017 | 3 | 252 | 0.0119 | 28 | c.527 others(45): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13842437 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0106 | a0106c0103 | a0106c0103t0002 | a0106c0103t0002g0145 | 1 | 252 | 0.0040 | 28 | c.527 others(45): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 32/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84598188 | T | TTTCTTTC others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0016 | a0016c0039 | a0016c0039t0001 | a0016c0039t0001g0089 | 1 | 116 | 0.0086 | 28 | c.286 others(47): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 18/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195766167 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03209.hp2 NA18955.hp1 others(2): Show |
a0001a0008a0015others(1): Show | a0001c0001a0001c0048a0008c0009others(2): Show | a0001c0001t0002a0001c0048t0002a0008c0009t0002others(2): Show | a0001c0001t0002g0180a0001c0048t0002g0194a0008c0009t0002g0038others(2): Show | 5 | 256 | 0.0195 | 28 | c.114 others(49): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 61/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778677 | C | CACACACA others(21): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02976.hp1 HG03139.hp2 others(3): Show |
a0005a0009a0033 | a0005c0007a0005c0062a0009c0010others(1): Show | a0005c0007t0006a0005c0062t0005a0009c0010t0005others(1): Show | a0005c0007t0006g0253a0005c0007t0006g0254a0005c0007t0006g0255others(3): Show | 6 | 256 | 0.0234 | 28 | c.108 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778733 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02451.hp1 HG02717.hp2 others(5): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0007a0007c0008others(1): Show | a0001c0001t0002a0005c0007t0006a0007c0008t0001others(1): Show | a0001c0001t0002g0164a0005c0007t0006g0241a0007c0008t0001g0111others(5): Show | 8 | 256 | 0.0313 | 28 | c.108 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195847111 | G | GGATATCG others(21): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0223 | 1 | 256 | 0.0039 | 28 | c.878 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 46/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195976747 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19088.hp2 |
a0009a0011 | a0009c0021a0011c0015 | a0009c0021t0001a0011c0015t0002 | a0009c0021t0001g0210a0011c0015t0002g0193 | 2 | 256 | 0.0078 | 28 | c.183 others(47): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 15/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715960 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0022 | a0022c0037 | a0022c0037t0001 | a0022c0037t0001g0024 | 1 | 284 | 0.0035 | 28 | c.-35 others(43): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |