view | 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 | 21728237 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01081.hp2 others(2): Show |
a0005a0059a0078others(2): Show | a0005c0115a0059c0052a0078c0093others(2): Show | a0005c0115t0001a0059c0052t0004a0078c0093t0002others(2): Show | a0005c0115t0001g0098a0059c0052t0004g0257a0078c0093t0002g0030others(2): Show | 5 | 298 | 0.0168 | -10 | c.744 others(29): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21765610 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG02280.hp2 HG02976.hp2 others(6): Show |
a0008a0009a0082others(6): Show | a0008c0214a0009c0270a0082c0157others(6): Show | a0008c0214t0006a0009c0270t0006a0082c0157t0002others(6): Show | a0008c0214t0006g0175a0009c0270t0006g0148a0082c0157t0002g0241others(6): Show | 9 | 298 | 0.0302 | -10 | c.910 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21769065 | AGAAATTG others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00735.hp1 others(43): Show |
a0003a0005a0007others(36): Show | a0003c0082a0005c0092a0005c0115others(41): Show | a0003c0082t0001a0005c0092t0001a0005c0115t0001others(41): Show | a0003c0082t0001g0034a0005c0092t0001g0060a0005c0115t0001g0098others(43): Show | 46 | 298 | 0.1544 | -10 | c.910 others(29): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21804082 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(163): Show |
a0002a0003a0004others(117): Show | a0002c0090a0002c0091a0002c0107others(154): Show | a0002c0090t0020a0002c0091t0002a0002c0107t0002others(156): Show | a0002c0090t0020g0027a0002c0091t0002g0015a0002c0107t0002g0067others(163): Show | 166 | 298 | 0.5571 | -10 | c.101 others(31): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 62/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21872123 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 NA18948.hp1 NA18985.hp1 |
a0021a0029 | a0021c0050a0029c0008 | a0021c0050t0003a0029c0008t0001 | a0021c0050t0003g0264a0029c0008t0001g0021a0029c0008t0001g0043 | 3 | 298 | 0.0101 | -10 | c.119 others(31): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0241 | 1 | 266 | 0.0038 | -10 | c.113 others(29): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57301677 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01070.hp2 others(82): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0026a0001c0027others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(33): Show | a0001c0001t0001g0195a0001c0001t0001g0205a0001c0001t0001g0218others(82): Show | 85 | 266 | 0.3196 | -10 | c.113 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302561 | ATATGTAT others(3): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0033 | a0033c0048 | a0033c0048t0001 | a0033c0048t0001g0033 | 1 | 266 | 0.0038 | -10 | c.111 others(29): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57371775 | AAAGATAC others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00741.hp1 others(46): Show |
a0004a0008a0010others(17): Show | a0004c0004a0008c0007a0010c0015others(17): Show | a0004c0004t0001a0008c0007t0001a0010c0015t0001others(17): Show | a0004c0004t0001g0038a0004c0004t0001g0040a0004c0004t0001g0067others(46): Show | 49 | 266 | 0.1842 | -10 | c.876 others(29): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57404025 | TCACTTTA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0061 | a0061c0054 | a0061c0054t0001 | a0061c0054t0001g0265 | 1 | 266 | 0.0038 | -10 | c.675 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 42/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57418365 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03834.hp1 HG03927.hp2 HG04199.hp1 others(2): Show |
a0015a0032a0071others(1): Show | a0015c0013a0032c0042a0071c0066others(1): Show | a0015c0013t0001a0032c0042t0001a0071c0066t0001others(1): Show | a0015c0013t0001g0101a0015c0013t0001g0102a0032c0042t0001g0059others(2): Show | 5 | 266 | 0.0188 | -10 | c.571 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 37/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57427668 | TGACAGAG others(3): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0025 | a0025c0056 | a0025c0056t0001 | a0025c0056t0001g0064 | 1 | 266 | 0.0038 | -10 | c.525 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57442714 | TTGTGTTT others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 HG06807.hp2 |
a0025a0040 | a0025c0056a0025c0068a0040c0034 | a0025c0056t0001a0025c0068t0001a0040c0034t0001 | a0025c0056t0001g0064a0025c0068t0001g0112a0040c0034t0001g0047 | 3 | 266 | 0.0113 | -10 | c.454 others(29): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 29/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57485547 | GCGTGCCA others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
a0007a0017 | a0007c0016a0007c0017a0017c0069 | a0007c0016t0001a0007c0017t0001a0017c0069t0001 | a0007c0016t0001g0041a0007c0017t0001g0080a0007c0017t0001g0104others(1): Show | 4 | 266 | 0.0150 | -10 | c.151 others(29): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57509861 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp2 HG03098.hp1 others(2): Show |
a0027a0065a0070others(1): Show | a0027c0058a0027c0059a0065c0057others(2): Show | a0027c0058t0002a0027c0059t0001a0065c0057t0001others(2): Show | a0027c0058t0002g0037a0027c0059t0001g0063a0065c0057t0001g0039others(2): Show | 5 | 266 | 0.0188 | -10 | c.470 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 5/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57509881 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0110 | 1 | 266 | 0.0038 | -10 | c.470 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 5/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG02145.hp2 others(3): Show |
a0004a0018a0068others(1): Show | a0004c0004a0018c0011a0068c0070others(1): Show | a0004c0004t0001a0018c0011t0001a0068c0070t0001others(1): Show | a0004c0004t0001g0038a0004c0004t0001g0040a0004c0004t0001g0072others(3): Show | 6 | 266 | 0.0226 | -10 | c.279 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225011758 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(112): Show |
a0000a0001a0003others(47): Show | a0000c0102a0001c0001a0001c0008others(50): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(52): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(112): Show | 115 | 240 | 0.4792 | -10 | c.110 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 10/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225070260 | TTTACTCT others(3): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0115 | 1 | 240 | 0.0042 | -10 | c.242 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTCT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG03041.hp2 |
a0014a0024 | a0014c0013a0024c0054 | a0014c0013t0001a0024c0054t0001 | a0014c0013t0001g0228a0024c0054t0001g0222 | 2 | 240 | 0.0083 | -10 | c.242 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078815 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0060 | a0060c0055 | a0060c0055t0001 | a0060c0055t0001g0095 | 1 | 240 | 0.0042 | -10 | c.242 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078859 | CCTCTCTC others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG02027.hp2 others(9): Show |
a0014a0024a0042others(7): Show | a0014c0013a0024c0054a0024c0056others(8): Show | a0014c0013t0001a0024c0054t0001a0024c0056t0001others(8): Show | a0014c0013t0001g0226a0014c0013t0001g0227a0024c0054t0001g0222others(9): Show | 12 | 240 | 0.0500 | -10 | c.242 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225274197 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02970.hp2 HG03471.hp1 others(1): Show |
a0020a0035a0071 | a0020c0019a0035c0036a0071c0081 | a0020c0019t0001a0035c0036t0001a0071c0081t0001 | a0020c0019t0001g0101a0020c0019t0001g0102a0035c0036t0001g0100others(1): Show | 4 | 240 | 0.0167 | -10 | c.801 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01884.hp2 others(2): Show |
a0006a0024a0077others(2): Show | a0006c0006a0024c0056a0077c0115others(2): Show | a0006c0006t0001a0024c0056t0001a0077c0115t0001others(2): Show | a0006c0006t0001g0143a0024c0056t0001g0224a0077c0115t0001g0166others(2): Show | 5 | 240 | 0.0208 | -10 | c.846 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290645 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03669.hp1 |
a0021a0036 | a0021c0034a0036c0120 | a0021c0034t0001a0036c0120t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088 | 3 | 240 | 0.0125 | -10 | c.846 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290647 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02109.hp2 HG02155.hp2 others(5): Show |
a0003a0032a0072others(2): Show | a0003c0002a0032c0029a0072c0079others(2): Show | a0003c0002t0001a0032c0029t0001a0072c0079t0001others(2): Show | a0003c0002t0001g0113a0003c0002t0001g0117a0003c0002t0001g0148others(5): Show | 8 | 240 | 0.0333 | -10 | c.846 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335625 | ATATACAT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00741.hp2 others(34): Show |
a0002a0004a0009others(18): Show | a0002c0003a0002c0025a0004c0004others(21): Show | a0002c0003t0001a0002c0003t0002a0002c0025t0002others(22): Show | a0002c0003t0001g0056a0002c0003t0001g0059a0002c0003t0001g0062others(34): Show | 37 | 240 | 0.1542 | -10 | c.100 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335657 | ATATACAT others(3): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02572.hp1 HG03098.hp2 others(5): Show |
a0021a0038a0040others(4): Show | a0021c0034a0038c0124a0040c0122others(4): Show | a0021c0034t0001a0038c0124t0001a0040c0122t0001others(4): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0038c0124t0001g0094others(5): Show | 8 | 240 | 0.0333 | -10 | c.100 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335689 | ATATACAT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01261.hp2 others(26): Show |
a0007a0010a0017others(13): Show | a0007c0009a0007c0048a0010c0010others(16): Show | a0007c0009t0001a0007c0048t0001a0010c0010t0001others(16): Show | a0007c0009t0001g0004a0007c0009t0001g0005a0007c0009t0001g0006others(26): Show | 29 | 240 | 0.1208 | -10 | c.100 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225342683 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(82): Show |
a0000a0001a0005others(34): Show | a0000c0102a0001c0001a0001c0008others(37): Show | a0000c0102t0003a0001c0001t0001a0001c0001t0002others(39): Show | a0000c0102t0003g0177a0001c0001t0001g0034a0001c0001t0001g0105others(82): Show | 85 | 240 | 0.3542 | -10 | c.106 others(31): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 69/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225367008 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(66): Show |
a0003a0008a0010others(33): Show | a0003c0002a0008c0007a0010c0010others(35): Show | a0003c0002t0001a0008c0007t0001a0010c0010t0001others(35): Show | a0003c0002t0001g0106a0003c0002t0001g0110a0003c0002t0001g0113others(66): Show | 69 | 240 | 0.2875 | -10 | c.120 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 76/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0019 | a0019c0080 | a0019c0080t0001 | a0019c0080t0001g0112 | 1 | 252 | 0.0040 | -10 | c.129 others(29): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78446173 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp1 others(1): Show |
a0001a0003a0056 | a0001c0208a0003c0014a0056c0112 | a0001c0208t0001a0003c0014t0001a0056c0112t0001 | a0001c0208t0001g0065a0003c0014t0001g0014a0003c0014t0001g0015others(1): Show | 4 | 252 | 0.0159 | -10 | c.112 others(29): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 69/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78446262 | TGCAACCA others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp1 HG01109.hp2 others(39): Show |
a0001a0002a0003others(32): Show | a0001c0208a0002c0050a0003c0006others(36): Show | a0001c0208t0001a0002c0050t0002a0003c0006t0001others(36): Show | a0001c0208t0001g0065a0002c0050t0002g0004a0003c0006t0001g0148others(39): Show | 42 | 252 | 0.1667 | -10 | c.112 others(29): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 69/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78460321 | CGTGCATG others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp2 HG01891.hp1 others(15): Show |
a0001a0002a0003others(11): Show | a0001c0113a0001c0208a0002c0050others(13): Show | a0001c0113t0001a0001c0208t0001a0002c0050t0002others(13): Show | a0001c0113t0001g0098a0001c0208t0001g0065a0002c0050t0002g0004others(15): Show | 18 | 252 | 0.0714 | -10 | c.934 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 58/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78544800 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0066 | a0066c0137 | a0066c0137t0002 | a0066c0137t0002g0085 | 1 | 252 | 0.0040 | -10 | c.239 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00733.hp2 others(21): Show |
a0001a0007a0009others(15): Show | a0001c0001a0007c0004a0007c0150others(18): Show | a0001c0001t0003a0007c0004t0001a0007c0150t0001others(18): Show | a0001c0001t0003g0249a0007c0004t0001g0185a0007c0004t0001g0203others(21): Show | 24 | 252 | 0.0952 | -10 | c.217 others(29): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | |||||||
DNAH1_chr3_52311319_52405492 | 52331619 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG00741.hp2 others(37): Show |
a0003a0004a0005others(5): Show | a0003c0004a0004c0007a0004c0013others(8): Show | a0003c0004t0001a0004c0007t0001a0004c0013t0001others(8): Show | a0003c0004t0001g0033a0003c0004t0001g0034a0003c0004t0001g0035others(32): Show | 40 | 182 | 0.2198 | -10 | c.103 others(27): Show |
DNAH1 | ENSG00000114841.18 | transcript | ENST00000420323.7 | protein_coding | 7/77 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH1_chr3_52311319_52405492 | 52370319 | TTGGTGCA others(3): Show |
T | intron_variant | MODIFIER | NA18966.hp2 | a0014 | a0014c0042 | a0014c0042t0001 | a0014c0042t0001g0092 | 1 | 182 | 0.0055 | -10 | c.625 others(27): Show |
DNAH1 | ENSG00000114841.18 | transcript | ENST00000420323.7 | protein_coding | 39/77 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7727754 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0035 | a0035c0099 | a0035c0099t0002 | a0035c0099t0002g0259 | 1 | 316 | 0.0032 | -10 | c.399 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
a0001a0003a0026others(2): Show | a0001c0001a0001c0006a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(9): Show | a0001c0001t0001g0247a0001c0001t0002g0007a0001c0001t0002g0078others(11): Show | 14 | 316 | 0.0443 | -10 | c.190 others(29): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7793437 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp1 HG03139.hp1 others(1): Show |
a0001a0003a0015others(1): Show | a0001c0029a0003c0004a0015c0013others(1): Show | a0001c0029t0003a0003c0004t0003a0015c0013t0001others(1): Show | a0001c0029t0003g0301a0003c0004t0003g0278a0015c0013t0001g0241others(1): Show | 4 | 316 | 0.0127 | -10 | c.756 others(27): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7793544 | CTTCTCTT others(3): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0017 | a0017c0024 | a0017c0024t0002 | a0017c0024t0002g0253 | 1 | 316 | 0.0032 | -10 | c.756 others(27): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20959610 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0051 | a0051c0088 | a0051c0088t0001 | a0051c0088t0001g0187 | 1 | 234 | 0.0043 | -10 | c.104 others(29): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 53/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20961515 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(24): Show |
a0004a0006a0024others(5): Show | a0004c0007a0004c0027a0004c0028others(12): Show | a0004c0007t0001a0004c0007t0002a0004c0027t0001others(14): Show | a0004c0007t0001g0167a0004c0007t0001g0169a0004c0007t0001g0170others(24): Show | 27 | 234 | 0.1154 | -10 | c.104 others(31): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 53/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20966014 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0100 | 1 | 234 | 0.0043 | -10 | c.832 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20969086 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 |
a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0146a0019c0023t0001g0190 | 2 | 234 | 0.0086 | -10 | c.832 others(27): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20972739 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 |
a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0046a0017c0024t0001g0047 | 2 | 234 | 0.0086 | -10 | c.812 others(29): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 51/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21064860 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01361.hp2 others(4): Show |
a0002a0051 | a0002c0004a0051c0088 | a0002c0004t0001a0051c0088t0001 | a0002c0004t0001g0022a0002c0004t0001g0028a0002c0004t0001g0032others(4): Show | 7 | 234 | 0.0299 | -10 | c.338 others(29): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 24/61 | chr16 | TogoVar | |||||||
DNAH5_chr5_13685328_13949688 | 13702165 | AGCAGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02280.hp2 others(14): Show |
a0001a0007a0027others(14): Show | a0001c0130a0007c0068a0027c0148others(14): Show | a0001c0130t0017a0007c0068t0001a0027c0148t0001others(14): Show | a0001c0130t0017g0190a0007c0068t0001g0156a0027c0148t0001g0189others(14): Show | 17 | 252 | 0.0675 | -10 | c.133 others(29): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 76/78 | chr5 | TogoVar |