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 | 21822957 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
a0002a0003a0004others(91): Show | a0002c0090a0002c0107a0002c0141others(106): Show | a0002c0090t0020a0002c0107t0002a0002c0141t0002others(107): Show | a0002c0090t0020g0027a0002c0107t0002g0067a0002c0141t0002g0026others(112): Show | 115 | 298 | 0.3859 | -7 | c.106 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 65/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21901757 | CTCCAGTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(199): Show |
a0001a0002a0004others(152): Show | a0001c0001a0001c0002a0001c0051others(185): Show | a0001c0001t0004a0001c0002t0004a0001c0051t0004others(188): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(199): Show | 202 | 298 | 0.6779 | -7 | c.*51 others(16): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 82/82 | 513 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01361.hp2 others(33): Show |
a0001a0002a0005others(10): Show | a0001c0001a0002c0002a0005c0005others(10): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(11): Show | a0001c0001t0001g0145a0001c0001t0001g0171a0001c0001t0001g0172others(33): Show | 36 | 266 | 0.1353 | -7 | c.113 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302560 | TATATGTA | T | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG02145.hp2 others(4): Show |
a0004a0008a0018others(2): Show | a0004c0004a0008c0007a0018c0011others(2): Show | a0004c0004t0001a0008c0007t0001a0018c0011t0001others(2): Show | a0004c0004t0001g0261a0008c0007t0001g0167a0018c0011t0001g0065others(4): Show | 7 | 266 | 0.0263 | -7 | c.111 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57393625 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00621.hp2 others(89): Show |
a0001a0002a0004others(24): Show | a0001c0026a0002c0002a0002c0023others(27): Show | a0001c0026t0001a0002c0002t0001a0002c0023t0001others(27): Show | a0001c0026t0001g0204a0002c0002t0001g0006a0002c0002t0001g0117others(89): Show | 92 | 266 | 0.3459 | -7 | c.711 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 44/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57408746 | CTGGAATG | C | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00741.hp1 others(15): Show |
a0004a0008a0010others(2): Show | a0004c0004a0008c0007a0010c0015others(2): Show | a0004c0004t0001a0008c0007t0001a0010c0015t0001others(2): Show | a0004c0004t0001g0040a0004c0004t0001g0067a0004c0004t0001g0069others(15): Show | 18 | 266 | 0.0677 | -7 | c.602 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57411549 | AAAAAAAG | A | intron_variant | MODIFIER | HG01169.hp2 HG01258.hp1 HG02622.hp2 others(4): Show |
a0003a0007a0011others(1): Show | a0003c0003a0007c0016a0011c0018others(1): Show | a0003c0003t0001a0007c0016t0001a0011c0018t0001others(1): Show | a0003c0003t0001g0021a0007c0016t0001g0041a0011c0018t0001g0010others(4): Show | 7 | 266 | 0.0263 | -7 | c.602 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 39/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225011758 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp1 others(43): Show |
a0002a0004a0012others(16): Show | a0002c0003a0002c0025a0002c0073others(19): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(20): Show | a0002c0003t0001g0048a0002c0003t0001g0052a0002c0003t0001g0056others(43): Show | 46 | 240 | 0.1917 | -7 | c.110 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 10/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225044965 | TAATGTAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show |
a0000a0001a0003others(54): Show | a0000c0102a0001c0001a0001c0008others(62): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(64): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(135): Show | 138 | 240 | 0.5750 | -7 | c.191 others(24): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225132384 | ATGTGTGT | A | intron_variant | MODIFIER | HG02027.hp1 HG03491.hp1 HG03492.hp2 others(4): Show |
a0021a0036a0037others(3): Show | a0021c0034a0036c0120a0037c0121others(3): Show | a0021c0034t0001a0036c0120t0001a0037c0121t0001others(3): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088others(4): Show | 7 | 240 | 0.0292 | -7 | c.425 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 27/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225339141 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(39): Show |
a0003a0004a0013others(18): Show | a0003c0002a0004c0004a0013c0014others(18): Show | a0003c0002t0001a0004c0004t0001a0013c0014t0001others(18): Show | a0003c0002t0001g0106a0003c0002t0001g0110a0003c0002t0001g0113others(39): Show | 42 | 240 | 0.1750 | -7 | c.104 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 68/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78421898 | AGCGGGCG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(38): Show |
a0001a0002a0004others(29): Show | a0001c0001a0001c0008a0001c0020others(37): Show | a0001c0001t0001a0001c0008t0001a0001c0020t0001others(37): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0008t0001g0225others(38): Show | 41 | 252 | 0.1627 | -7 | c.*20 others(18): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 1798 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp2 HG02055.hp1 others(13): Show |
a0002a0004a0005others(12): Show | a0002c0050a0004c0199a0005c0226others(12): Show | a0002c0050t0002a0004c0199t0002a0005c0226t0002others(12): Show | a0002c0050t0002g0004a0004c0199t0002g0141a0005c0226t0002g0079others(13): Show | 16 | 252 | 0.0635 | -7 | c.129 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78428923 | TTAAAAAA | T | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02559.hp2 others(8): Show |
a0002a0004a0005others(7): Show | a0002c0050a0004c0199a0005c0226others(7): Show | a0002c0050t0002a0004c0199t0002a0005c0226t0002others(7): Show | a0002c0050t0002g0004a0004c0199t0002g0141a0005c0226t0002g0079others(8): Show | 11 | 252 | 0.0437 | -7 | c.124 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 76/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78482070 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02572.hp1 others(14): Show |
a0001a0003a0004others(11): Show | a0001c0113a0003c0006a0004c0081others(12): Show | a0001c0113t0001a0003c0006t0001a0004c0081t0001others(12): Show | a0001c0113t0001g0098a0003c0006t0001g0148a0003c0006t0001g0149others(14): Show | 17 | 252 | 0.0675 | -7 | c.765 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 48/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78503169 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01106.hp2 others(35): Show |
a0003a0011a0028others(27): Show | a0003c0006a0003c0014a0003c0044others(33): Show | a0003c0006t0001a0003c0014t0001a0003c0044t0001others(33): Show | a0003c0006t0001g0148a0003c0006t0001g0149a0003c0014t0001g0014others(35): Show | 38 | 252 | 0.1508 | -7 | c.495 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 31/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78506135 | AGTTAATT | A | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG02895.hp1 others(1): Show |
a0004a0016a0131 | a0004c0103a0016c0005a0131c0159 | a0004c0103t0001a0016c0005t0001a0131c0159t0001 | a0004c0103t0001g0111a0016c0005t0001g0082a0016c0005t0001g0083others(1): Show | 4 | 252 | 0.0159 | -7 | c.480 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 30/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78512940 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp1 others(11): Show |
a0006a0012a0064others(6): Show | a0006c0010a0006c0051a0006c0052others(10): Show | a0006c0010t0001a0006c0051t0001a0006c0052t0001others(10): Show | a0006c0010t0001g0209a0006c0010t0001g0220a0006c0051t0001g0182others(11): Show | 14 | 252 | 0.0556 | -7 | c.411 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 26/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78538138 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(53): Show |
a0001a0002a0003others(33): Show | a0001c0105a0001c0138a0002c0003others(48): Show | a0001c0105t0001a0001c0138t0001a0002c0003t0001others(48): Show | a0001c0105t0001g0053a0001c0138t0001g0226a0002c0003t0001g0044others(53): Show | 56 | 252 | 0.2222 | -7 | c.267 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 18/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553313 | TTTTTTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG02071.hp1 others(6): Show |
a0001a0008a0071others(3): Show | a0001c0001a0001c0008a0001c0130others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0130t0001others(6): Show | a0001c0001t0001g0159a0001c0008t0001g0225a0001c0130t0001g0175others(6): Show | 9 | 252 | 0.0357 | -7 | c.217 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(32): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0020a0001c0105others(31): Show | a0001c0001t0001a0001c0020t0001a0001c0105t0001others(31): Show | a0001c0001t0001g0236a0001c0020t0001g0081a0001c0105t0001g0053others(32): Show | 35 | 252 | 0.1389 | -7 | c.217 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA | C | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001a0002a0015others(3): Show | a0001c0005a0001c0049a0002c0052others(4): Show | a0001c0005t0002a0001c0049t0002a0002c0052t0001others(4): Show | a0001c0005t0002g0055a0001c0049t0002g0010a0002c0052t0001g0217others(5): Show | 8 | 316 | 0.0253 | -7 | c.190 others(26): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7766640 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp1 HG02257.hp2 others(15): Show |
a0001a0002a0014others(5): Show | a0001c0006a0001c0021a0001c0053others(12): Show | a0001c0006t0003a0001c0021t0001a0001c0021t0002others(13): Show | a0001c0006t0003g0274a0001c0021t0001g0178a0001c0021t0001g0236others(15): Show | 18 | 316 | 0.0570 | -7 | c.367 others(24): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 22/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7799946 | GTACTCCA | G | intron_variant | MODIFIER | NA18960.hp1 NA18962.hp2 NA19002.hp2 others(2): Show |
a0002a0003 | a0002c0007a0003c0004 | a0002c0007t0003a0003c0004t0001 | a0002c0007t0003g0291a0003c0004t0001g0209a0003c0004t0001g0210others(2): Show | 5 | 316 | 0.0158 | -7 | c.869 others(24): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 56/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT | A | intron_variant | MODIFIER | HG01257.hp2 HG02040.hp1 HG02074.hp2 others(11): Show |
a0002a0010a0018 | a0002c0004a0002c0006a0002c0025others(2): Show | a0002c0004t0001a0002c0004t0002a0002c0006t0001others(3): Show | a0002c0004t0001g0174a0002c0004t0001g0197a0002c0004t0002g0016others(11): Show | 14 | 234 | 0.0598 | -7 | c.832 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20972739 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01074.hp2 others(5): Show |
a0001a0003a0012others(3): Show | a0001c0003a0001c0064a0001c0068others(5): Show | a0001c0003t0001a0001c0064t0001a0001c0068t0001others(5): Show | a0001c0003t0001g0031a0001c0064t0001g0038a0001c0068t0001g0024others(5): Show | 8 | 234 | 0.0342 | -7 | c.812 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 51/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20981991 | CATATATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01074.hp1 others(35): Show |
a0001a0002a0010others(9): Show | a0001c0011a0001c0026a0002c0004others(14): Show | a0001c0011t0001a0001c0026t0002a0002c0004t0001others(15): Show | a0001c0011t0001g0176a0001c0026t0002g0003a0002c0004t0001g0022others(35): Show | 38 | 234 | 0.1624 | -7 | c.772 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21019150 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02895.hp2 others(3): Show |
a0007a0010 | a0007c0012a0007c0053a0007c0057others(1): Show | a0007c0012t0001a0007c0053t0001a0007c0057t0001others(1): Show | a0007c0012t0001g0179a0007c0012t0001g0182a0007c0012t0001g0183others(3): Show | 6 | 234 | 0.0256 | -7 | c.588 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 41/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21131854 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 HG02723.hp2 others(3): Show |
a0001a0005 | a0001c0033a0001c0094a0001c0095others(1): Show | a0001c0033t0001a0001c0094t0001a0001c0095t0001others(1): Show | a0001c0033t0001g0075a0001c0033t0001g0077a0001c0094t0001g0116others(3): Show | 6 | 234 | 0.0256 | -7 | c.995 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 8/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13837472 | GACAGCGA | G | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02922.hp2 others(2): Show |
a0010a0034a0090others(1): Show | a0010c0002a0034c0024a0090c0048others(1): Show | a0010c0002t0019a0034c0024t0007a0090c0048t0002others(1): Show | a0010c0002t0019g0228a0034c0024t0007g0002a0034c0024t0007g0003others(2): Show | 5 | 252 | 0.0198 | -7 | c.588 others(26): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 35/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13875806 | AAGTCCAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02970.hp2 others(3): Show |
a0035a0091a0092others(2): Show | a0035c0025a0091c0115a0092c0114others(2): Show | a0035c0025t0006a0091c0115t0002a0092c0114t0001others(2): Show | a0035c0025t0006g0149a0035c0025t0006g0152a0091c0115t0002g0014others(3): Show | 6 | 252 | 0.0238 | -7 | c.339 others(24): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 22/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84683412 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(45): Show |
a0001a0003a0011others(6): Show | a0001c0001a0001c0015a0001c0022others(13): Show | a0001c0001t0001a0001c0015t0001a0001c0022t0001others(13): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(45): Show | 48 | 116 | 0.4138 | -7 | c.691 others(26): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 42/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 195781541 | CTTCCCTG | C | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02895.hp2 others(3): Show |
a0016a0045a0047 | a0016c0013a0045c0028a0047c0029 | a0016c0013t0003a0045c0028t0001a0047c0029t0003 | a0016c0013t0003g0017a0016c0013t0003g0018a0016c0013t0003g0019others(3): Show | 6 | 256 | 0.0234 | -7 | c.108 others(28): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195871930 | CAAAAAAA | C | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02132.hp1 others(16): Show |
a0002 | a0002c0002a0002c0054 | a0002c0002t0001a0002c0054t0001 | a0002c0002t0001g0121a0002c0002t0001g0122a0002c0002t0001g0123others(16): Show | 19 | 256 | 0.0742 | -7 | c.663 others(24): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 40/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 196064341 | AAATAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp1 others(13): Show |
a0005a0009a0032others(1): Show | a0005c0007a0005c0062a0009c0010others(2): Show | a0005c0007t0005a0005c0007t0006a0005c0062t0005others(3): Show | a0005c0007t0005g0246a0005c0007t0006g0243a0005c0007t0006g0244others(13): Show | 16 | 256 | 0.0625 | -7 | c.15+ others(22): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 1/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38715954 | ATATATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG01256.hp2 HG03239.hp1 others(9): Show |
a0003a0004a0010others(7): Show | a0003c0017a0004c0089a0010c0111others(7): Show | a0003c0017t0001a0004c0089t0002a0010c0111t0001others(7): Show | a0003c0017t0001g0128a0004c0089t0002g0126a0010c0111t0001g0029others(9): Show | 12 | 284 | 0.0423 | -7 | c.-35 others(22): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 1/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38772971 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01169.hp2 others(33): Show |
a0003a0005a0007others(12): Show | a0003c0002a0003c0017a0003c0047others(16): Show | a0003c0002t0001a0003c0017t0001a0003c0047t0001others(16): Show | a0003c0002t0001g0036a0003c0002t0001g0060a0003c0002t0001g0067others(33): Show | 36 | 284 | 0.1268 | -7 | c.176 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | CTTTTTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG02602.hp1 HG03540.hp1 others(3): Show |
a0003a0004a0012others(2): Show | a0003c0002a0004c0015a0012c0016others(2): Show | a0003c0002t0001a0004c0015t0001a0012c0016t0001others(2): Show | a0003c0002t0001g0017a0004c0015t0001g0273a0012c0016t0001g0256others(3): Show | 6 | 284 | 0.0211 | -7 | c.408 others(24): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38963680 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(120): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0007a0001c0031others(63): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(65): Show | a0001c0001t0001g0022a0001c0001t0001g0092a0001c0001t0001g0093others(120): Show | 123 | 284 | 0.4331 | -7 | c.124 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11664193 | ACTTTGTT | A | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02965.hp1 others(2): Show |
a0018a0027a0063others(1): Show | a0018c0149a0018c0150a0027c0033others(2): Show | a0018c0149t0001a0018c0150t0002a0027c0033t0002others(2): Show | a0018c0149t0001g0011a0018c0150t0002g0012a0027c0033t0002g0103others(2): Show | 5 | 178 | 0.0281 | -7 | c.259 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11694906 | TTCAGATG | T | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG03130.hp1 others(3): Show |
a0019a0032a0045others(2): Show | a0019c0017a0032c0089a0045c0020others(2): Show | a0019c0017t0001a0032c0089t0001a0045c0020t0001others(2): Show | a0019c0017t0001g0009a0019c0017t0001g0014a0032c0089t0001g0094others(3): Show | 6 | 178 | 0.0337 | -7 | c.487 others(24): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11799300 | AAGTAGTT | A | intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01884.hp2 others(11): Show |
a0001a0002a0005others(10): Show | a0001c0082a0001c0122a0002c0010others(11): Show | a0001c0082t0001a0001c0122t0001a0002c0010t0001others(11): Show | a0001c0082t0001g0104a0001c0122t0001g0054a0002c0010t0001g0059others(11): Show | 14 | 178 | 0.0787 | -7 | c.842 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 43/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11877473 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(49): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0012others(41): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(41): Show | a0001c0001t0001g0028a0001c0001t0001g0088a0001c0003t0001g0170others(49): Show | 52 | 178 | 0.2921 | -7 | c.104 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 53/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11878237 | ATTCTTAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(56): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0012others(46): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(46): Show | a0001c0001t0001g0028a0001c0001t0001g0088a0001c0003t0001g0170others(56): Show | 59 | 178 | 0.3315 | -7 | c.104 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 53/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34477922 | CTCTTTTT | C | intron_variant | MODIFIER | HG01993.hp1 HG02155.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252a0001c0001t0001g0257a0001c0001t0001g0261others(3): Show | 6 | 382 | 0.0157 | -7 | c.49- others(22): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAI1_chr9_34453805_34525984 | 34509351 | ACTTATCT | A | intron_variant | MODIFIER | HG02523.hp1 NA18948.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0116a0001c0001t0001g0128 | 3 | 382 | 0.0079 | -7 | c.131 others(26): Show |
DNAI1 | ENSG00000122735.16 | transcript | ENST00000242317.9 | protein_coding | 13/19 | chr9 | TogoVar | ||||||
DNAI3_chr1_85057327_85138138 | 85074464 | TTCCAGCC | T | intron_variant | MODIFIER | HG00323.hp2 HG01123.hp1 HG01515.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0105a0001c0001t0001g0106a0003c0003t0002g0140 | 3 | 374 | 0.0080 | -7 | c.103 others(24): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI3_chr1_85057327_85138138 | 85080046 | CTTTTTTT | C | intron_variant | MODIFIER | HG02155.hp2 HG02523.hp2 NA18949.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0003c0003t0001a0004c0006t0001 | a0001c0001t0001g0187a0003c0003t0001g0107a0003c0003t0001g0177others(9): Show | 12 | 374 | 0.0321 | -7 | c.104 others(24): Show |
DNAI3 | ENSG00000162643.13 | transcript | ENST00000294664.11 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAI4_chr1_66807885_66929856 | 66821091 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(52): Show |
a0002a0004a0006others(1): Show | a0002c0002a0002c0004a0004c0006others(3): Show | a0002c0002t0001a0002c0002t0004a0002c0004t0001others(4): Show | a0002c0002t0001g0015a0002c0002t0001g0016a0002c0002t0001g0018others(52): Show | 55 | 264 | 0.2083 | -7 | c.249 others(26): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 16/16 | chr1 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25136759 | GCAAAATA | G | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326a0001c0001t0001g0327a0001c0001t0001g0328others(5): Show | 8 | 336 | 0.0238 | -7 | c.100 others(26): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 9/15 | chr12 | TogoVar |