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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAAF11_chr8_132565416_132680545 | 132678730 | A | AATAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 276 | 0.0036 | 18 | c.-32 others(29): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 3186 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84141090 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG03516.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094a0001c0001t0002g0117a0001c0001t0002g0118others(1): Show | 4 | 456 | 0.0088 | 18 | c.-43 others(29): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 4217 | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84141099 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03130.hp2 |
a0001a0012 | a0001c0008a0012c0015 | a0001c0008t0001a0012c0015t0001 | a0001c0008t0001g0149a0012c0015t0001g0148 | 2 | 456 | 0.0044 | 18 | c.-43 others(29): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 4208 | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0039 | a0007c0039t0004 | a0007c0039t0004g0409 | 1 | 456 | 0.0022 | 18 | c.125 others(33): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84168827 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG02071.hp1 others(2): Show |
a0002a0019 | a0002c0002a0019c0030 | a0002c0002t0001a0019c0030t0002 | a0002c0002t0001g0034a0002c0002t0001g0248a0002c0002t0001g0260others(2): Show | 5 | 456 | 0.0110 | 18 | c.103 others(37): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF2_chr14_49620174_49640244 | 49630669 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01515.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0024a0003c0003t0001g0053a0003c0003t0001g0054others(7): Show | 11 | 352 | 0.0313 | 18 | c.186 others(37): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55167634 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02145.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0017a0002c0003t0001g0009a0002c0003t0001g0030others(12): Show | 24 | 398 | 0.0603 | 18 | c.-11 others(29): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1022 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55167635 | A | AAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0023 | 1 | 398 | 0.0025 | 18 | c.-11 others(29): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1023 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0164 | 1 | 398 | 0.0025 | 18 | c.-18 others(29): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02897.hp1 HG03491.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0002c0003t0001a0003c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0089a0002c0003t0001g0030others(2): Show | 5 | 398 | 0.0126 | 18 | c.-43 others(29): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55170872 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0067 | 1 | 398 | 0.0025 | 18 | c.-43 others(29): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4260 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55455387 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02080.hp1 HG02145.hp1 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0002a0003c0003t0001a0004c0005t0001others(3): Show | a0001c0001t0002g0262a0003c0003t0001g0037a0003c0003t0001g0038others(11): Show | 14 | 338 | 0.0414 | 18 | c.638 others(35): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55498593 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18965.hp1 NA18966.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0002 | a0001c0001t0003g0305a0003c0003t0002g0313a0003c0003t0002g0314others(4): Show | 7 | 338 | 0.0207 | 18 | c.-25 others(33): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 742447 | T | TCATGCCC others(11): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 378 | 0.0027 | 18 | c.102 others(37): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 742486 | C | CATGCCCA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287a0002c0002t0001g0288 | 2 | 378 | 0.0053 | 18 | c.102 others(37): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 770963 | C | CACAAGCT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0002c0002others(19): Show | a0001c0001t0003a0001c0004t0001a0002c0002t0001others(30): Show | a0001c0001t0003g0320a0001c0004t0001g0027a0001c0004t0001g0028others(222): Show | 246 | 378 | 0.6508 | 18 | c.193 others(35): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 770973 | C | CGGCAGGG others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0117 | 1 | 378 | 0.0027 | 18 | c.193 others(35): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF5_chr7_721699_791475 | 770974 | G | GGCAGGGA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01123.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0236a0002c0002t0001g0252a0002c0002t0001g0253others(1): Show | 4 | 378 | 0.0106 | 18 | c.193 others(35): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 296 | 0.0034 | 18 | c.429 others(35): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3284531 | A | AACTGTAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(78): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0001c0008others(4): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(12): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(78): Show | 81 | 362 | 0.2238 | 18 | c.248 others(37): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3293292 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19067.hp1 |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0025 | a0001c0006t0008g0353a0001c0006t0025g0355 | 2 | 362 | 0.0055 | 18 | c.223 others(35): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 25/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3328187 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0006a0001c0003t0013a0001c0020t0024 | a0001c0003t0006g0008a0001c0003t0006g0009a0001c0003t0006g0348others(7): Show | 10 | 362 | 0.0276 | 18 | c.110 others(37): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 12/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123809651 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01169.hp1 others(8): Show |
a0001a0002a0023others(5): Show | a0001c0066a0001c0067a0001c0068others(7): Show | a0001c0066t0001a0001c0067t0001a0001c0068t0001others(7): Show | a0001c0066t0001g0132a0001c0067t0001g0082a0001c0068t0001g0160others(8): Show | 11 | 170 | 0.0647 | 18 | c.314 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 19/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0059 | a0059c0091 | a0059c0091t0002 | a0059c0091t0002g0001 | 1 | 170 | 0.0059 | 18 | c.928 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03579.hp1 |
a0014a0024 | a0014c0016a0024c0024 | a0014c0016t0001a0024c0024t0001 | a0014c0016t0001g0102a0024c0024t0001g0005 | 2 | 170 | 0.0118 | 18 | c.928 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21594063 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0141 | a0002c0141t0002 | a0002c0141t0002g0026 | 1 | 298 | 0.0034 | 18 | c.266 others(37): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21594098 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19054.hp1 |
a0015a0039 | a0015c0123a0039c0222 | a0015c0123t0004a0039c0222t0002 | a0015c0123t0004g0071a0039c0222t0002g0181 | 2 | 298 | 0.0067 | 18 | c.266 others(37): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726890 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0146 | a0146c0118 | a0146c0118t0001 | a0146c0118t0001g0045 | 1 | 298 | 0.0034 | 18 | 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 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0157 | a0157c0179 | a0157c0179t0001 | a0157c0179t0001g0125 | 1 | 298 | 0.0034 | 18 | c.910 others(33): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21872123 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02004.hp1 NA18942.hp1 others(1): Show |
a0003a0014a0077 | a0003c0082a0014c0007a0077c0139 | a0003c0082t0001a0014c0007t0003a0077c0139t0003 | a0003c0082t0001g0034a0014c0007t0003g0288a0014c0007t0003g0289others(1): Show | 4 | 298 | 0.0134 | 18 | c.119 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0045 | a0045c0038 | a0045c0038t0002 | a0045c0038t0002g0114 | 1 | 266 | 0.0038 | 18 | c.997 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0078 | 1 | 266 | 0.0038 | 18 | c.936 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0044 | a0044c0032 | a0044c0032t0001 | a0044c0032t0001g0084 | 1 | 266 | 0.0038 | 18 | c.875 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0024 | a0024c0074 | a0024c0074t0002 | a0024c0074t0002g0257 | 1 | 266 | 0.0038 | 18 | c.730 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0024 | a0024c0075 | a0024c0075t0002 | a0024c0075t0002g0256 | 1 | 266 | 0.0038 | 18 | c.730 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 266 | 0.0038 | 18 | c.730 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0200 | 1 | 266 | 0.0038 | 18 | c.730 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57427138 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02976.hp2 HG03579.hp1 |
a0012a0026 | a0012c0010a0026c0020 | a0012c0010t0002a0026c0020t0004 | a0012c0010t0002g0260a0026c0020t0004g0180a0026c0020t0004g0219 | 3 | 266 | 0.0113 | 18 | c.525 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57438918 | C | CGAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01361.hp2 HG02559.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0025 | a0001c0001t0001a0009c0025t0001 | a0001c0001t0001g0145a0001c0001t0001g0172a0001c0001t0001g0208others(2): Show | 5 | 266 | 0.0188 | 18 | c.454 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 29/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499630 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0072 | 1 | 266 | 0.0038 | 18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0237 | 2 | 266 | 0.0075 | 18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02135.hp1 HG03453.hp1 others(1): Show |
a0005a0020a0048 | a0005c0005a0020c0019a0048c0052 | a0005c0005t0001a0020c0019t0001a0048c0052t0001 | a0005c0005t0001g0194a0005c0005t0001g0233a0020c0019t0001g0005others(1): Show | 4 | 266 | 0.0150 | 18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG02683.hp1 others(2): Show |
a0001a0005a0008 | a0001c0001a0005c0005a0008c0007 | a0001c0001t0001a0001c0001t0003a0005c0005t0001others(1): Show | a0001c0001t0001g0196a0001c0001t0003g0001a0005c0005t0001g0221others(2): Show | 5 | 266 | 0.0188 | 18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 266 | 0.0038 | 18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01358.hp1 others(11): Show |
a0002a0004a0012others(8): Show | a0002c0003a0002c0025a0004c0004others(9): Show | a0002c0003t0001a0002c0025t0002a0004c0004t0001others(9): Show | a0002c0003t0001g0052a0002c0003t0001g0068a0002c0025t0002g0043others(11): Show | 14 | 240 | 0.0583 | 18 | c.135 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225082171 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG01261.hp1 others(27): Show |
a0001a0003a0009others(9): Show | a0001c0001a0003c0002a0009c0035others(10): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(11): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0156others(27): Show | 30 | 240 | 0.1250 | 18 | c.313 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 19/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01123.hp1 others(20): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0002c0003others(12): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(12): Show | a0001c0001t0001g0160a0001c0001t0001g0168a0001c0008t0001g0151others(20): Show | 23 | 240 | 0.0958 | 18 | c.123 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78460348 | G | GTGTGTGC others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0106 | a0106c0205 | a0106c0205t0001 | a0106c0205t0001g0145 | 1 | 252 | 0.0040 | 18 | c.934 others(33): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 58/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478011 | T | TTATCATC others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0132 | a0132c0224 | a0132c0224t0001 | a0132c0224t0001g0120 | 1 | 252 | 0.0040 | 18 | c.799 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78541071 | C | CGGGGTGG others(11): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0049 | a0049c0217 | a0049c0217t0001 | a0049c0217t0001g0237 | 1 | 252 | 0.0040 | 18 | c.253 others(37): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar |