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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAAF4_chr15_55425308_55513234 | 55448519 | GGTGTGT | G | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01192.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0102a0001c0001t0001g0125a0001c0001t0001g0169others(14): Show | 17 | 338 | 0.0503 | -6 | c.783 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55463170 | TCTCACA | T | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 HG02970.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0005a0004c0005t0007 | a0004c0005t0001g0296a0004c0005t0005g0286a0004c0005t0005g0287others(3): Show | 6 | 338 | 0.0178 | -6 | c.637 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55473217 | ATATATG | A | intron_variant | MODIFIER | HG02080.hp1 HG02717.hp1 HG02723.hp2 others(4): Show |
a0004a0005 | a0004c0005a0004c0007a0005c0004 | a0004c0005t0003a0004c0007t0003a0005c0004t0003 | a0004c0005t0003g0254a0004c0005t0003g0255a0004c0005t0003g0256others(4): Show | 7 | 338 | 0.0207 | -6 | c.406 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55473305 | ATGTGTG | A | intron_variant | MODIFIER | HG02080.hp1 HG04204.hp2 NA18989.hp1 |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0254a0004c0005t0003g0255a0004c0005t0003g0256 | 3 | 338 | 0.0089 | -6 | c.406 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02559.hp2 others(8): Show |
a0003a0004a0005 | a0003c0003a0004c0005a0005c0004 | a0003c0003t0001a0004c0005t0005a0004c0005t0007others(1): Show | a0003c0003t0001g0041a0004c0005t0005g0286a0004c0005t0005g0287others(8): Show | 11 | 338 | 0.0325 | -6 | c.405 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55486018 | GGCAGTA | G | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02922.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0005a0004c0005t0007 | a0004c0005t0001g0296a0004c0005t0005g0286a0004c0005t0005g0287others(4): Show | 7 | 338 | 0.0207 | -6 | c.405 others(23): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 775511 | GGTGTGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(75): Show |
a0003a0005a0010others(1): Show | a0003c0003a0003c0005a0003c0010others(3): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0005others(6): Show | a0003c0003t0001g0111a0003c0003t0001g0192a0003c0003t0003g0001others(64): Show | 78 | 378 | 0.2064 | -6 | c.223 others(23): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107221910 | CATAATA | C | intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02622.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034a0001c0001t0001g0043a0001c0001t0001g0046others(16): Show | 20 | 296 | 0.0676 | -6 | c.333 others(21): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107235963 | CAAAAAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(121): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0110others(95): Show | 124 | 296 | 0.4189 | -6 | c.430 others(23): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF8_chr16_4729537_4754396 | 4743922 | CTTTTTT | C | intron_variant | MODIFIER | HG01256.hp1 HG01516.hp2 HG02965.hp1 others(3): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0001a0004c0004t0003 | a0002c0002t0001g0106a0002c0002t0001g0110a0002c0002t0001g0113others(3): Show | 6 | 386 | 0.0155 | -6 | c.901 others(21): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3268897 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0006a0001c0003t0013 | a0001c0002t0002g0169a0001c0003t0006g0349a0001c0003t0006g0350others(3): Show | 6 | 362 | 0.0166 | -6 | c.278 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3274136 | CTTTATT | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0027 | a0001c0002t0002g0126a0001c0002t0002g0128a0001c0002t0002g0130others(3): Show | 6 | 362 | 0.0166 | -6 | c.265 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 29/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3290787 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0005c0022others(3): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(11): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(76): Show | 79 | 362 | 0.2182 | -6 | c.223 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 25/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3300678 | AAATAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(87): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(14): Show | a0001c0001t0001g0224a0001c0001t0001g0298a0001c0001t0001g0302others(87): Show | 90 | 362 | 0.2486 | -6 | c.178 others(25): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 21/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3317360 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02976.hp1 others(8): Show |
a0001a0007 | a0001c0003a0001c0006a0007c0021 | a0001c0003t0009a0001c0006t0008a0001c0006t0023others(2): Show | a0001c0003t0009g0044a0001c0003t0009g0045a0001c0003t0009g0059others(8): Show | 11 | 362 | 0.0304 | -6 | c.146 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 17/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3319262 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(67): Show |
a0001a0005a0011 | a0001c0003a0001c0006a0005c0022others(1): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(8): Show | a0001c0003t0004g0007a0001c0003t0004g0013a0001c0003t0004g0023others(67): Show | 70 | 362 | 0.1934 | -6 | c.135 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3332898 | GTGGTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0040a0001c0003t0004g0041a0001c0003t0004g0042others(1): Show | 4 | 362 | 0.0111 | -6 | c.982 others(21): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3344590 | TACACAC | T | intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(4): Show | a0001c0001t0001g0208a0001c0001t0007g0311a0001c0002t0002g0162others(7): Show | 10 | 362 | 0.0276 | -6 | c.790 others(21): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3350142 | CACACAG | C | intron_variant | MODIFIER | HG01952.hp2 HG02572.hp2 HG02735.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0014 | a0001c0001t0001a0001c0003t0013a0006c0014t0001 | a0001c0001t0001g0223a0001c0001t0001g0242a0001c0001t0001g0272others(3): Show | 6 | 362 | 0.0166 | -6 | c.691 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3371215 | TTTTTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show |
a0001a0005a0007others(2): Show | a0001c0003a0005c0022a0007c0021others(2): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(8): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(70): Show | 73 | 362 | 0.2017 | -6 | c.612 others(23): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 6/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3377069 | AAAAAAT | A | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0306a0001c0001t0003g0064a0001c0001t0003g0072others(8): Show | 11 | 362 | 0.0304 | -6 | c.284 others(21): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 3/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123798838 | GCTCACA | G | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02559.hp1 others(6): Show |
a0001a0008a0016others(2): Show | a0001c0058a0001c0059a0008c0008others(3): Show | a0001c0058t0001a0001c0059t0002a0008c0008t0001others(3): Show | a0001c0058t0001g0033a0001c0059t0002g0014a0008c0008t0001g0011others(6): Show | 9 | 170 | 0.0529 | -6 | c.216 others(23): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 13/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21602557 | TTGTGTG | T | intron_variant | MODIFIER | HG00621.hp1 HG02080.hp2 HG02155.hp2 others(10): Show |
a0002a0015a0016others(7): Show | a0002c0110a0015c0120a0015c0124others(9): Show | a0002c0110t0005a0015c0120t0002a0015c0124t0002others(9): Show | a0002c0110t0005g0245a0015c0120t0002g0070a0015c0124t0002g0103others(10): Show | 13 | 298 | 0.0436 | -6 | c.364 others(23): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 18/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21612554 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02922.hp2 others(4): Show |
a0008a0009a0040others(3): Show | a0008c0262a0009c0210a0040c0018others(3): Show | a0008c0262t0001a0009c0210t0001a0040c0018t0001others(3): Show | a0008c0262t0001g0139a0009c0210t0001g0209a0040c0018t0001g0128others(4): Show | 7 | 298 | 0.0235 | -6 | c.385 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21638691 | GGTGTGT | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(40): Show |
a0002a0003a0004others(26): Show | a0002c0090a0002c0091a0003c0010others(35): Show | a0002c0090t0020a0002c0091t0002a0003c0010t0001others(37): Show | a0002c0090t0020g0027a0002c0091t0002g0015a0003c0010t0001g0037others(40): Show | 43 | 298 | 0.1443 | -6 | c.481 others(23): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 27/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21674028 | TTGTGTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01255.hp1 others(23): Show |
a0009a0047a0074others(23): Show | a0009c0212a0047c0175a0074c0033others(23): Show | a0009c0212t0001a0047c0175t0001a0074c0033t0001others(23): Show | a0009c0212t0001g0216a0047c0175t0001g0001a0074c0033t0001g0244others(23): Show | 26 | 298 | 0.0873 | -6 | c.532 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 30/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726860 | CAAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01081.hp2 others(43): Show |
a0002a0003a0005others(38): Show | a0002c0110a0003c0079a0003c0084others(42): Show | a0002c0110t0005a0003c0079t0001a0003c0084t0001others(42): Show | a0002c0110t0005g0245a0003c0079t0001g0019a0003c0084t0001g0032others(43): Show | 46 | 298 | 0.1544 | -6 | c.744 others(23): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp1 others(27): Show |
a0002a0003a0004others(24): Show | a0002c0090a0002c0107a0002c0141others(26): Show | a0002c0090t0020a0002c0107t0002a0002c0141t0002others(26): Show | a0002c0090t0020g0027a0002c0107t0002g0067a0002c0141t0002g0026others(27): Show | 30 | 298 | 0.1007 | -6 | c.744 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21763789 | TATATAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
a0001a0002a0005others(93): Show | a0001c0001a0001c0002a0001c0051others(103): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(104): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(112): Show | 115 | 298 | 0.3859 | -6 | c.894 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 54/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21776935 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(34): Show |
a0006a0007a0008others(31): Show | a0006c0142a0006c0161a0007c0112others(33): Show | a0006c0142t0003a0006c0161t0008a0007c0112t0006others(34): Show | a0006c0142t0003g0055a0006c0161t0008g0099a0007c0112t0006g0094others(34): Show | 37 | 298 | 0.1242 | -6 | c.933 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 56/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21780557 | TAAAATA | T | intron_variant | MODIFIER | HG02559.hp2 HG03209.hp2 HG03486.hp2 |
a0079a0080a0088 | a0079c0170a0080c0164a0088c0158 | a0079c0170t0001a0080c0164t0005a0088c0158t0001 | a0079c0170t0001g0117a0080c0164t0005g0013a0088c0158t0001g0012 | 3 | 298 | 0.0101 | -6 | c.948 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 57/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21785693 | GTGTATA | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(110): Show |
a0003a0004a0006others(85): Show | a0003c0010a0003c0079a0003c0082others(105): Show | a0003c0010t0001a0003c0079t0001a0003c0082t0001others(105): Show | a0003c0010t0001g0037a0003c0010t0001g0062a0003c0079t0001g0019others(110): Show | 113 | 298 | 0.3792 | -6 | c.959 others(23): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 58/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21822957 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(42): Show |
a0001a0002a0006others(33): Show | a0001c0001a0001c0002a0001c0051others(39): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(39): Show | a0001c0001t0004g0277a0001c0002t0004g0296a0001c0002t0004g0297others(42): Show | 45 | 298 | 0.1510 | -6 | c.106 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 65/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21837067 | GATATTA | G | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00642.hp1 others(34): Show |
a0002a0003a0004others(26): Show | a0002c0107a0003c0010a0003c0079others(31): Show | a0002c0107t0002a0003c0010t0001a0003c0079t0001others(31): Show | a0002c0107t0002g0067a0003c0010t0001g0037a0003c0010t0001g0062others(34): Show | 37 | 298 | 0.1242 | -6 | c.106 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 65/81 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00733.hp1 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0088a0002c0002others(6): Show | a0001c0001t0001a0001c0088t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0174a0001c0001t0001g0178a0001c0001t0001g0179others(31): Show | 34 | 266 | 0.1278 | -6 | c.113 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301677 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG01358.hp2 others(18): Show |
a0002a0003a0004others(11): Show | a0002c0002a0003c0003a0004c0004others(12): Show | a0002c0002t0001a0003c0003t0001a0004c0004t0001others(13): Show | a0002c0002t0001g0132a0002c0002t0001g0169a0003c0003t0001g0011others(18): Show | 21 | 266 | 0.0790 | -6 | c.113 others(23): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302529 | GTATATA | G | intron_variant | MODIFIER | HG01106.hp1 HG02698.hp2 NA18950.hp1 others(3): Show |
a0004a0023a0036 | a0004c0004a0023c0079a0036c0047 | a0004c0004t0001a0023c0079t0001a0036c0047t0001 | a0004c0004t0001g0073a0004c0004t0001g0074a0004c0004t0001g0094others(3): Show | 6 | 266 | 0.0226 | -6 | c.111 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57361444 | CTATATA | C | intron_variant | MODIFIER | HG01934.hp1 HG02615.hp1 HG02886.hp2 |
a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0108a0016c0012t0001g0109a0016c0012t0001g0110 | 3 | 266 | 0.0113 | -6 | c.936 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57389798 | ATGTGTG | A | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG02922.hp2 |
a0013 | a0013c0009 | a0013c0009t0001 | a0013c0009t0001g0111a0013c0009t0001g0115a0013c0009t0001g0116 | 3 | 266 | 0.0113 | -6 | c.730 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57392587 | GAAAAAC | G | intron_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG01981.hp2 others(3): Show |
a0002a0010 | a0002c0002a0010c0092 | a0002c0002t0001a0010c0092t0001 | a0002c0002t0001g0122a0002c0002t0001g0127a0002c0002t0001g0136others(3): Show | 6 | 266 | 0.0226 | -6 | c.711 others(23): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 44/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57393625 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG02615.hp2 others(6): Show |
a0002a0008a0025others(3): Show | a0002c0002a0008c0007a0025c0056others(4): Show | a0002c0002t0001a0008c0007t0001a0025c0056t0001others(4): Show | a0002c0002t0001g0121a0002c0002t0001g0155a0002c0002t0001g0158others(6): Show | 9 | 266 | 0.0338 | -6 | c.711 others(23): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 44/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57411550 | AAAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00738.hp1 others(48): Show |
a0002a0003a0006others(18): Show | a0002c0002a0003c0003a0003c0044others(21): Show | a0002c0002t0001a0003c0003t0001a0003c0044t0001others(21): Show | a0002c0002t0001g0216a0003c0003t0001g0007a0003c0003t0001g0011others(48): Show | 51 | 266 | 0.1917 | -6 | c.602 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57547209 | TATATAG | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(169): Show |
a0001a0002a0003others(47): Show | a0001c0001a0001c0026a0001c0027others(60): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(62): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(169): Show | 172 | 266 | 0.6466 | -6 | c.-30 others(17): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2866 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224987118 | AAGAGAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(162): Show |
a0000a0001a0002others(76): Show | a0000c0102a0001c0001a0001c0008others(87): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(90): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(162): Show | 165 | 240 | 0.6875 | -6 | c.830 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225032946 | TGTTTAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0000a0001a0003others(61): Show | a0000c0102a0001c0001a0001c0008others(69): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(71): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(143): Show | 146 | 240 | 0.6083 | -6 | c.135 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225049045 | CTATTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(37): Show |
a0002a0004a0012others(14): Show | a0002c0003a0002c0025a0002c0073others(17): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(18): Show | a0002c0003t0001g0041a0002c0003t0001g0048a0002c0003t0001g0052others(37): Show | 40 | 240 | 0.1667 | -6 | c.191 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225049047 | ATTTTTT | A | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 HG04204.hp2 others(2): Show |
a0003a0035a0038others(2): Show | a0003c0002a0035c0086a0038c0124others(2): Show | a0003c0002t0001a0035c0086t0001a0038c0124t0001others(2): Show | a0003c0002t0001g0121a0035c0086t0001g0098a0038c0124t0001g0094others(2): Show | 5 | 240 | 0.0208 | -6 | c.191 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTC | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02622.hp1 |
a0007a0063a0069 | a0007c0048a0063c0051a0069c0078 | a0007c0048t0001a0063c0051t0001a0069c0078t0001 | a0007c0048t0001g0008a0063c0051t0001g0235a0069c0078t0001g0219 | 3 | 240 | 0.0125 | -6 | c.242 others(23): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078859 | CCTCTCT | C | intron_variant | MODIFIER | HG00733.hp1 HG02559.hp2 NA18612.hp2 others(4): Show |
a0002a0012a0013others(2): Show | a0002c0003a0002c0025a0012c0074others(3): Show | a0002c0003t0001a0002c0025t0002a0012c0074t0001others(3): Show | a0002c0003t0001g0068a0002c0025t0002g0042a0002c0025t0002g0043others(4): Show | 7 | 240 | 0.0292 | -6 | c.242 others(23): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225086990 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00741.hp2 others(18): Show |
a0000a0005a0006others(13): Show | a0000c0102a0005c0005a0006c0006others(13): Show | a0000c0102t0003a0005c0005t0001a0006c0006t0001others(13): Show | a0000c0102t0003g0177a0005c0005t0001g0133a0005c0005t0001g0134others(18): Show | 21 | 240 | 0.0875 | -6 | c.357 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |