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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMXL1_chr5_119066087_119254127 | 119184059 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02055.hp2 others(13): Show |
a0001a0009a0012others(4): Show | a0001c0004a0009c0010a0012c0016others(4): Show | a0001c0004t0003a0009c0010t0007a0012c0016t0013others(4): Show | a0001c0004t0003g0005a0001c0004t0003g0007a0001c0004t0003g0008others(13): Show | 16 | 238 | 0.0672 | 11 | c.713 others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51601290 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG01261.hp1 others(15): Show |
a0001a0002a0004 | a0001c0010a0002c0002a0002c0004others(3): Show | a0001c0010t0002a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0010t0002g0277a0001c0010t0002g0281a0001c0010t0002g0282others(15): Show | 18 | 346 | 0.0520 | 11 | c.87+ others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68437669 | A | AAAAACAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01433.hp1 HG01884.hp1 others(22): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0004a0001c0004t0004others(5): Show | a0001c0001t0001g0090a0001c0001t0001g0298a0001c0001t0001g0309others(22): Show | 25 | 326 | 0.0767 | 11 | c.141 others(28): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68464829 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0022 | a0006c0022t0005 | a0006c0022t0005g0034 | 1 | 326 | 0.0031 | 11 | c.587 others(26): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02015.hp1 HG02071.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0021a0001c0005t0036a0002c0002t0003others(3): Show | a0001c0001t0021g0080a0001c0001t0021g0266a0001c0005t0036g0269others(16): Show | 25 | 432 | 0.0579 | 11 | c.*42 others(22): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593362 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 276 | 0.0036 | 11 | c.114 others(30): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0149 | 1 | 456 | 0.0022 | 11 | c.125 others(26): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 456 | 0.0022 | 11 | c.125 others(26): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF4_chr15_55425308_55513234 | 55446296 | C | CCGGGGGG others(4): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0254 | 1 | 338 | 0.0030 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55446296 | C | CGGCGGGG others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0324a0005c0004t0003g0326a0005c0004t0003g0327others(1): Show | 4 | 338 | 0.0118 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55448517 | A | AAAGGGGT others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0030 | 1 | 338 | 0.0030 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55448517 | A | AAAGGTGT others(4): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 338 | 0.0030 | 11 | c.783 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55498593 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(11): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0267a0002c0002t0002g0268a0002c0002t0002g0269others(11): Show | 14 | 338 | 0.0414 | 11 | c.-25 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03486.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0004g0133 | 3 | 296 | 0.0101 | 11 | c.429 others(28): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF8_chr16_4729537_4754396 | 4739265 | G | GGTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18964.hp1 NA19085.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100a0002c0002t0001g0101a0002c0002t0001g0102others(1): Show | 4 | 386 | 0.0104 | 11 | c.277 others(26): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 3/9 | chr16 | TogoVar | ||||||
DNAAF8_chr16_4729537_4754396 | 4739265 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0013a0002c0002a0002c0007others(5): Show | a0001c0013t0006a0002c0002t0001a0002c0007t0001others(5): Show | a0001c0013t0006g0108a0001c0013t0006g0109a0002c0002t0001g0001others(31): Show | 79 | 386 | 0.2047 | 11 | c.277 others(26): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3247159 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0349 | 1 | 362 | 0.0028 | 11 | c.*54 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 2146 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310331 | G | GAAAAAGA others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02683.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005 | a0001c0003t0004g0037a0001c0003t0004g0038a0001c0003t0005g0015others(1): Show | 4 | 362 | 0.0111 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 362 | 0.0028 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3311995 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0118a0001c0002t0002g0119 | 2 | 362 | 0.0055 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3311995 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 362 | 0.0028 | 11 | c.167 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3336252 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04199.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0022 | a0001c0003t0004g0011a0001c0003t0005g0335a0001c0003t0005g0358others(1): Show | 4 | 362 | 0.0111 | 11 | c.982 others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3387884 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02970.hp2 NA18943.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0019 | a0001c0004t0003g0085a0001c0004t0003g0100a0001c0004t0019g0077 | 3 | 362 | 0.0083 | 11 | c.84- others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123765561 | A | ATCTATCT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02970.hp1 HG02976.hp2 others(4): Show |
a0005a0010a0015others(4): Show | a0005c0065a0010c0009a0015c0018others(4): Show | a0005c0065t0001a0010c0009t0002a0015c0018t0002others(4): Show | a0005c0065t0001g0042a0010c0009t0002g0149a0015c0018t0002g0027others(4): Show | 7 | 170 | 0.0412 | 11 | c.215 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123797376 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01074.hp1 others(6): Show |
a0001a0003a0029others(2): Show | a0001c0003a0003c0005a0003c0054others(3): Show | a0001c0003t0002a0003c0005t0002a0003c0054t0002others(3): Show | a0001c0003t0002g0097a0003c0005t0002g0053a0003c0005t0002g0070others(6): Show | 9 | 170 | 0.0529 | 11 | c.216 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 13/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123866229 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 HG04184.hp1 |
a0001a0050 | a0001c0001a0050c0056 | a0001c0001t0001a0050c0056t0001 | a0001c0001t0001g0099a0050c0056t0001g0073 | 2 | 170 | 0.0118 | 11 | c.716 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21545274 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0072 | a0072c0046 | a0072c0046t0025 | a0072c0046t0025g0120 | 1 | 298 | 0.0034 | 11 | c.495 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21597133 | G | GCCTGGAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(228): Show |
a0001a0002a0005others(173): Show | a0001c0001a0001c0002a0001c0051others(212): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(214): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(228): Show | 231 | 298 | 0.7752 | 11 | c.266 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726935 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(63): Show |
a0001a0003a0005others(50): Show | a0001c0001a0001c0002a0003c0084others(54): Show | a0001c0001t0004a0001c0002t0004a0003c0084t0001others(55): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(63): Show | 66 | 298 | 0.2215 | 11 | c.744 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726938 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0073 | a0073c0031 | a0073c0031t0004 | a0073c0031t0004g0268 | 1 | 298 | 0.0034 | 11 | c.744 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21747046 | A | ATTAGAGG others(4): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0016 | a0016c0268 | a0016c0268t0002 | a0016c0268t0002g0150 | 1 | 298 | 0.0034 | 11 | c.851 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 51/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789793 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03540.hp1 NA19057.hp1 |
a0009a0025a0031 | a0009c0212a0025c0152a0031c0218 | a0009c0212t0001a0025c0152t0003a0031c0218t0002 | a0009c0212t0001g0216a0025c0152t0003g0104a0031c0218t0002g0130 | 3 | 298 | 0.0101 | 11 | c.100 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21848166 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0107 | a0107c0173 | a0107c0173t0005 | a0107c0173t0005g0016 | 1 | 298 | 0.0034 | 11 | c.108 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 66/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57302529 | G | GTTATATA others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 HG04115.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0177a0002c0002t0001g0262 | 2 | 266 | 0.0075 | 11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01943.hp2 others(22): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0027a0002c0002others(9): Show | a0001c0001t0001a0001c0027t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0149a0001c0001t0001g0184a0001c0001t0001g0195others(22): Show | 25 | 266 | 0.0940 | 11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03453.hp2 |
a0007a0020 | a0007c0017a0020c0019 | a0007c0017t0001a0020c0019t0001 | a0007c0017t0001g0080a0020c0019t0001g0113 | 2 | 266 | 0.0075 | 11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0020 | a0020c0019 | a0020c0019t0001 | a0020c0019t0001g0113 | 1 | 266 | 0.0038 | 11 | c.997 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02258.hp2 others(7): Show |
a0004a0007a0012others(6): Show | a0004c0004a0007c0008a0012c0010others(6): Show | a0004c0004t0001a0007c0008t0002a0012c0010t0002others(6): Show | a0004c0004t0001g0068a0007c0008t0002g0078a0012c0010t0002g0253others(7): Show | 10 | 266 | 0.0376 | 11 | c.875 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57438918 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01169.hp2 HG01243.hp1 others(30): Show |
a0004a0007a0011others(22): Show | a0004c0004a0007c0008a0007c0016others(24): Show | a0004c0004t0001a0007c0008t0002a0007c0016t0001others(24): Show | a0004c0004t0001g0094a0007c0008t0002g0046a0007c0008t0002g0081others(30): Show | 33 | 266 | 0.1241 | 11 | c.454 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 29/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57450250 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01243.hp2 others(23): Show |
a0004a0018a0028others(6): Show | a0004c0004a0018c0011a0028c0021others(6): Show | a0004c0004t0001a0018c0011t0001a0028c0021t0001others(6): Show | a0004c0004t0001g0038a0004c0004t0001g0040a0004c0004t0001g0067others(23): Show | 26 | 266 | 0.0977 | 11 | c.378 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 25/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57483375 | C | CATAGTGA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18940.hp1 | a0048 | a0048c0052 | a0048c0052t0001 | a0048c0052t0001g0239 | 1 | 266 | 0.0038 | 11 | c.165 others(22): Show |
p.Glu others(5): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 13/74 | 1831/12145 | 1650/11883 | 550/3960 | chr3 | TogoVar | ||
DNAH12_chr3_57288700_57549344 | 57499630 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0054 | a0054c0094 | a0054c0094t0003 | a0054c0094t0003g0002 | 1 | 266 | 0.0038 | 11 | c.133 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0009 | a0009c0025 | a0009c0025t0003 | a0009c0025t0003g0004 | 1 | 266 | 0.0038 | 11 | c.133 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57538923 | A | ACCCCCCA others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0040 | 1 | 266 | 0.0038 | 11 | c.170 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224953129 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(44): Show |
a0002a0004a0012others(15): Show | a0002c0003a0002c0025a0002c0073others(18): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(19): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(44): Show | 47 | 240 | 0.1958 | 11 | c.77+ others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 2/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 224991084 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG06807.hp1 others(1): Show |
a0014a0024a0064others(1): Show | a0014c0013a0024c0056a0064c0049others(1): Show | a0014c0013t0001a0024c0056t0001a0064c0049t0001others(1): Show | a0014c0013t0001g0228a0024c0056t0001g0224a0064c0049t0001g0096others(1): Show | 4 | 240 | 0.0167 | 11 | c.831 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078825 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0045 | a0045c0076 | a0045c0076t0001 | a0045c0076t0001g0001 | 1 | 240 | 0.0042 | 11 | c.242 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04184.hp1 |
a0021a0037 | a0021c0034a0037c0121 | a0021c0034t0001a0037c0121t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0037c0121t0001g0091 | 3 | 240 | 0.0125 | 11 | c.801 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290692 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0151 | 1 | 240 | 0.0042 | 11 | c.846 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225357599 | A | AATATGTG others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(135): Show |
a0001a0002a0004others(56): Show | a0001c0001a0001c0008a0002c0003others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(66): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(135): Show | 138 | 240 | 0.5750 | 11 | c.116 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 73/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |