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 | 119089292 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01256.hp2 HG01258.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0097a0001c0002t0001g0115a0001c0002t0001g0203others(2): Show | 5 | 238 | 0.0210 | 15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03491.hp2 NA18971.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0045a0002c0003 | a0001c0002t0001a0001c0045t0010a0002c0003t0001others(1): Show | a0001c0002t0001g0079a0001c0045t0010g0075a0002c0003t0001g0066others(1): Show | 4 | 238 | 0.0168 | 15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0020 | a0001c0020t0020 | a0001c0020t0020g0112 | 1 | 238 | 0.0042 | 15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 238 | 0.0042 | 15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089293 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02129.hp2 others(1): Show |
a0001a0023 | a0001c0002a0023c0029 | a0001c0002t0001a0023c0029t0001 | a0001c0002t0001g0100a0001c0002t0001g0103a0001c0002t0001g0106others(1): Show | 4 | 238 | 0.0168 | 15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089999 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0080 | 1 | 238 | 0.0042 | 15 | c.88- others(30): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123321 | G | GGGGAGAG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(108): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0006others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(108): Show | 111 | 238 | 0.4664 | 15 | c.110 others(34): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123399 | G | GGGAGGGA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(67): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(27): Show | a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0001g0206others(67): Show | 70 | 238 | 0.2941 | 15 | c.110 others(34): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119123409 | G | GGGAGAGG others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(27): Show |
a0001a0014a0020 | a0001c0001a0001c0002a0001c0020others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0001g0124a0001c0002t0001g0001a0001c0002t0001g0030others(27): Show | 30 | 238 | 0.1261 | 15 | c.110 others(34): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51521414 | C | CTAGTAGT others(8): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 346 | 0.0029 | 15 | c.243 others(34): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(8): Show |
splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00609.hp1 HG01070.hp1 others(14): Show |
a0002a0012 | a0002c0002a0002c0031a0012c0030 | a0002c0002t0001a0002c0031t0001a0012c0030t0001 | a0002c0002t0001g0216a0002c0002t0001g0217a0002c0002t0001g0227others(14): Show | 17 | 346 | 0.0491 | 15 | c.88- others(25): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593362 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18973.hp2 NA19088.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0098a0001c0001t0001g0160others(1): Show | 4 | 276 | 0.0145 | 15 | c.114 others(34): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132595346 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0011 | a0008c0011t0009 | a0008c0011t0009g0031 | 1 | 276 | 0.0036 | 15 | c.114 others(36): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674046 | A | AAGGAGCA others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0079a0002c0002t0001g0080 | 2 | 276 | 0.0073 | 15 | c.10+ others(30): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674112 | C | CAGGAGGA others(8): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 276 | 0.0036 | 15 | c.10+ others(30): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTCT others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0014 | a0005c0014t0006 | a0005c0014t0006g0416 | 1 | 456 | 0.0022 | 15 | c.125 others(30): 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(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0390 | 1 | 456 | 0.0022 | 15 | c.125 others(30): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF4_chr15_55425308_55513234 | 55495375 | G | GAATGGTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG01258.hp2 others(7): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0009c0009t0001 | a0002c0002t0001g0067a0002c0002t0001g0068a0002c0002t0001g0069others(7): Show | 10 | 338 | 0.0296 | 15 | c.271 others(32): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01258.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111a0001c0001t0001g0138a0001c0001t0001g0146others(13): Show | 17 | 296 | 0.0574 | 15 | c.429 others(32): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF8_chr16_4729537_4754396 | 4739265 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 NA19086.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131a0002c0002t0001g0132 | 2 | 386 | 0.0052 | 15 | c.277 others(30): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(14): Show |
a0001a0007a0010 | a0001c0003a0001c0006a0007c0021others(1): Show | a0001c0003t0004a0001c0003t0005a0001c0006t0023others(2): Show | a0001c0003t0004g0023a0001c0003t0004g0029a0001c0003t0004g0030others(14): Show | 17 | 362 | 0.0470 | 15 | c.167 others(34): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3387884 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02074.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0003 | a0001c0001t0007g0315a0001c0004t0003g0109 | 2 | 362 | 0.0055 | 15 | c.84- others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123765561 | A | ATCTATCT others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0005a0027 | a0005c0007a0027c0025 | a0005c0007t0002a0027c0025t0001 | a0005c0007t0002g0044a0027c0025t0001g0150 | 2 | 170 | 0.0118 | 15 | c.215 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCCCC others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 |
a0066a0069 | a0066c0095a0069c0096 | a0066c0095t0001a0069c0096t0002 | a0066c0095t0001g0169a0069c0096t0002g0168 | 2 | 170 | 0.0118 | 15 | c.842 others(30): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123809651 | A | AAACAACA others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02055.hp1 others(23): Show |
a0001a0007a0008others(14): Show | a0001c0058a0001c0059a0007c0010others(16): Show | a0001c0058t0001a0001c0059t0002a0007c0010t0001others(16): Show | a0001c0058t0001g0033a0001c0059t0002g0014a0007c0010t0001g0125others(23): Show | 26 | 170 | 0.1529 | 15 | c.314 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 19/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911580 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02723.hp1 HG02886.hp2 others(1): Show |
a0001a0002a0034others(1): Show | a0001c0001a0002c0011a0034c0070others(1): Show | a0001c0001t0001a0002c0011t0001a0034c0070t0001others(1): Show | a0001c0001t0001g0052a0002c0011t0001g0003a0034c0070t0001g0152others(1): Show | 4 | 170 | 0.0235 | 15 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911656 | G | GGGAGGGG others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03195.hp1 |
a0031a0047a0052 | a0031c0040a0047c0051a0052c0037 | a0031c0040t0001a0047c0051t0001a0052c0037t0001 | a0031c0040t0001g0017a0047c0051t0001g0039a0052c0037t0001g0130 | 3 | 170 | 0.0177 | 15 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911657 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02976.hp1 |
a0065a0070 | a0065c0094a0070c0086 | a0065c0094t0002a0070c0086t0002 | a0065c0094t0002g0151a0070c0086t0002g0156 | 2 | 170 | 0.0118 | 15 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911907 | G | GTCTGTCC others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01884.hp2 others(17): Show |
a0007a0008a0013others(8): Show | a0007c0010a0007c0097a0008c0008others(10): Show | a0007c0010t0001a0007c0097t0001a0008c0008t0001others(10): Show | a0007c0010t0001g0125a0007c0010t0001g0127a0007c0010t0001g0128others(17): Show | 20 | 170 | 0.1177 | 15 | c.101 others(36): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912064 | G | GGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 |
a0031a0052 | a0031c0040a0052c0037 | a0031c0040t0001a0052c0037t0001 | a0031c0040t0001g0017a0052c0037t0001g0130 | 2 | 170 | 0.0118 | 15 | c.101 others(36): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912157 | T | TGGGGGGT others(8): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02258.hp1 HG02280.hp1 others(12): Show |
a0001a0006a0009others(6): Show | a0001c0001a0001c0046a0001c0067others(8): Show | a0001c0001t0001a0001c0046t0001a0001c0067t0001others(8): Show | a0001c0001t0001g0052a0001c0046t0001g0153a0001c0067t0001g0082others(12): Show | 15 | 170 | 0.0882 | 15 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21612554 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0161 | a0006c0161t0008 | a0006c0161t0008g0099 | 1 | 298 | 0.0034 | 15 | c.385 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726935 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18961.hp1 |
a0028a0111 | a0028c0083a0111c0087 | a0028c0083t0004a0111c0087t0002 | a0028c0083t0004g0039a0111c0087t0002g0020 | 2 | 298 | 0.0067 | 15 | c.744 others(32): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21733484 | G | GCCTAGAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03516.hp1 NA18522.hp1 |
a0082a0084a0167 | a0082c0157a0084c0163a0167c0192 | a0082c0157t0002a0084c0163t0005a0167c0192t0005 | a0082c0157t0002g0241a0084c0163t0005g0088a0167c0192t0005g0197 | 3 | 298 | 0.0101 | 15 | c.744 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21789806 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0159 | a0159c0251 | a0159c0251t0004 | a0159c0251t0004g0198 | 1 | 298 | 0.0034 | 15 | c.100 others(34): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21872123 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01258.hp2 others(8): Show |
a0005a0006a0008others(8): Show | a0005c0115a0006c0146a0008c0272others(8): Show | a0005c0115t0001a0006c0146t0003a0008c0272t0001others(8): Show | a0005c0115t0001g0098a0006c0146t0003g0048a0008c0272t0001g0185others(8): Show | 11 | 298 | 0.0369 | 15 | c.119 others(36): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21872135 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0221 | a0221c0256 | a0221c0256t0007 | a0221c0256t0007g0221 | 1 | 298 | 0.0034 | 15 | c.119 others(36): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21872138 | A | AAAAAAAC others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
a0012a0061a0074others(12): Show | a0012c0169a0061c0043a0074c0033others(12): Show | a0012c0169t0008a0061c0043t0001a0074c0033t0001others(12): Show | a0012c0169t0008g0116a0061c0043t0001g0242a0074c0033t0001g0244others(12): Show | 15 | 298 | 0.0503 | 15 | c.119 others(36): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57302568 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0042 | a0042c0033 | a0042c0033t0001 | a0042c0033t0001g0009 | 1 | 266 | 0.0038 | 15 | c.111 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG03139.hp2 others(1): Show |
a0009a0019a0033 | a0009c0025a0019c0030a0019c0035others(1): Show | a0009c0025t0001a0019c0030t0001a0019c0035t0001others(1): Show | a0009c0025t0001g0266a0019c0030t0001g0147a0019c0035t0001g0082others(1): Show | 4 | 266 | 0.0150 | 15 | c.997 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp1 HG01175.hp2 others(13): Show |
a0002a0003a0004others(7): Show | a0002c0002a0003c0003a0004c0004others(7): Show | a0002c0002t0001a0003c0003t0001a0004c0004t0001others(7): Show | a0002c0002t0001g0216a0003c0003t0001g0019a0003c0003t0001g0024others(13): Show | 16 | 266 | 0.0602 | 15 | c.875 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390420 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0110 | 1 | 266 | 0.0038 | 15 | c.730 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0218 | 2 | 266 | 0.0075 | 15 | c.730 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57421902 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01175.hp2 HG01433.hp2 others(6): Show |
a0003a0006a0037 | a0003c0003a0006c0006a0037c0049 | a0003c0003t0001a0006c0006t0001a0037c0049t0001 | a0003c0003t0001g0007a0003c0003t0001g0011a0003c0003t0001g0017others(6): Show | 9 | 266 | 0.0338 | 15 | c.537 others(32): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57427138 | A | ATGTGATG others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02622.hp1 others(6): Show |
a0007a0014a0017others(2): Show | a0007c0008a0014c0014a0017c0063others(2): Show | a0007c0008t0002a0014c0014t0001a0017c0063t0001others(2): Show | a0007c0008t0002g0046a0007c0008t0002g0078a0007c0008t0002g0081others(6): Show | 9 | 266 | 0.0338 | 15 | c.525 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57438918 | C | CGAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG01943.hp2 others(5): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0027a0001c0087others(3): Show | a0001c0001t0001a0001c0027t0001a0001c0087t0001others(3): Show | a0001c0001t0001g0195a0001c0001t0001g0226a0001c0027t0001g0185others(5): Show | 8 | 266 | 0.0301 | 15 | c.454 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 29/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499645 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 NA20905.hp2 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0006c0006t0001 | a0003c0003t0001g0017a0006c0006t0001g0049 | 2 | 266 | 0.0075 | 15 | c.133 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02735.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0225a0001c0001t0001g0242 | 3 | 266 | 0.0113 | 15 | c.133 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01433.hp1 others(2): Show |
a0001a0010a0014 | a0001c0001a0001c0027a0010c0015others(1): Show | a0001c0001t0001a0001c0027t0001a0010c0015t0001others(1): Show | a0001c0001t0001g0195a0001c0001t0001g0215a0001c0027t0001g0185others(2): Show | 5 | 266 | 0.0188 | 15 | c.133 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0051 | a0051c0089 | a0051c0089t0001 | a0051c0089t0001g0232 | 1 | 266 | 0.0038 | 15 | c.133 others(34): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar |