view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123766287 | G | GCCTACCT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02258.hp1 others(13): Show |
a0001a0005a0015others(8): Show | a0001c0001a0005c0007a0005c0065others(9): Show | a0001c0001t0001a0005c0007t0002a0005c0065t0001others(9): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0005c0007t0002g0036 others(13): Show |
16 | 170 | 0.0941 | 8 | c.215 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123779604 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02630.hp1 HG02809.hp2 others(2): Show |
a0023a0026a0064others(1): Show | a0023c0023a0026c0077a0064c0076others(1): Show | a0023c0023t0001a0026c0077t0002a0064c0076t0002others(1): Show | a0023c0023t0001g0022 a0023c0023t0001g0024 a0026c0077t0002g0163 others(2): Show |
5 | 170 | 0.0294 | 8 | c.622 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 5/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123807187 | A | ACATCCAT others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG02896.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0006 a0005c0007t0002g0007 a0005c0007t0002g0036 |
3 | 170 | 0.0177 | 8 | c.298 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 18/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123847143 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02615.hp1 HG03239.hp1 others(2): Show |
a0001a0004a0017others(2): Show | a0001c0003a0004c0006a0017c0017others(2): Show | a0001c0003t0002a0004c0006t0001a0017c0017t0001others(2): Show | a0001c0003t0002g0059 a0004c0006t0001g0108 a0017c0017t0001g0076 others(2): Show |
5 | 170 | 0.0294 | 8 | c.581 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123847218 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG01943.hp2 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0066a0002c0004others(3): Show | a0001c0003t0002a0001c0066t0001a0002c0004t0002others(3): Show | a0001c0003t0002g0060 a0001c0066t0001g0132 a0002c0004t0002g0135 others(3): Show |
6 | 170 | 0.0353 | 8 | c.581 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 32/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123874261 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 |
a0001a0034 | a0001c0068a0034c0070 | a0001c0068t0001a0034c0070t0001 | a0001c0068t0001g0160 a0034c0070t0001g0152 |
2 | 170 | 0.0118 | 8 | c.793 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 46/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123874265 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03831.hp1 HG03927.hp2 others(1): Show |
a0001a0046 | a0001c0001a0001c0002a0001c0066others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0066t0001others(1): Show | a0001c0001t0001g0058 a0001c0002t0002g0096 a0001c0066t0001g0132 others(1): Show |
4 | 170 | 0.0235 | 8 | c.793 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 46/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123874606 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01071.hp1 others(30): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0003a0002c0011others(18): Show | a0001c0002t0002a0001c0003t0002a0002c0011t0001others(18): Show | a0001c0002t0002g0088 a0001c0003t0002g0095 a0001c0003t0002g0105 others(30): Show |
33 | 170 | 0.1941 | 8 | c.793 others(25): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 46/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123896111 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 HG03017.hp1 others(3): Show |
a0001a0002a0006others(3): Show | a0001c0059a0002c0004a0006c0026others(3): Show | a0001c0059t0002a0002c0004t0002a0006c0026t0002others(3): Show | a0001c0059t0002g0014 a0002c0004t0002g0143 a0006c0026t0002g0079 others(3): Show |
6 | 170 | 0.0353 | 8 | c.928 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18964.hp2 |
a0003a0044 | a0003c0005a0044c0043 | a0003c0005t0002a0044c0043t0002 | a0003c0005t0002g0077 a0044c0043t0002g0090 |
2 | 170 | 0.0118 | 8 | c.928 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123896148 | C | CACATAGA others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18979.hp1 NA20905.hp1 |
a0001a0028 | a0001c0002a0028c0032 | a0001c0002t0002a0028c0032t0001 | a0001c0002t0002g0113 a0001c0002t0002g0116 a0028c0032t0001g0083 |
3 | 170 | 0.0177 | 8 | c.928 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123924640 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01243.hp2 others(23): Show |
a0007a0008a0013others(13): Show | a0007c0010a0007c0097a0008c0008others(15): Show | a0007c0010t0001a0007c0097t0001a0008c0008t0001others(15): Show | a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 others(23): Show |
26 | 170 | 0.1529 | 8 | c.117 others(27): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 67/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21545274 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01074.hp2 others(59): Show |
a0002a0005a0007others(49): Show | a0002c0091a0005c0160a0007c0165others(55): Show | a0002c0091t0002a0005c0160t0003a0007c0165t0001others(56): Show | a0002c0091t0002g0015 a0005c0160t0003g0010 a0007c0165t0001g0008 others(59): Show |
62 | 298 | 0.2081 | 8 | c.495 others(23): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21553070 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03139.hp1 HG03209.hp1 others(3): Show |
a0007a0031a0082others(3): Show | a0007c0165a0031c0218a0082c0157others(3): Show | a0007c0165t0001a0031c0218t0002a0082c0157t0002others(3): Show | a0007c0165t0001g0008 a0031c0218t0002g0130 a0082c0157t0002g0241 others(3): Show |
6 | 298 | 0.0201 | 8 | c.496 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21594063 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(36): Show |
a0002a0005a0007others(32): Show | a0002c0107a0002c0110a0005c0092others(36): Show | a0002c0107t0002a0002c0110t0005a0005c0092t0001others(36): Show | a0002c0107t0002g0067 a0002c0110t0005g0245 a0005c0092t0001g0060 others(36): Show |
39 | 298 | 0.1309 | 8 | c.266 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21594098 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01192.hp1 others(11): Show |
a0036a0037a0139others(10): Show | a0036c0229a0036c0237a0037c0224others(11): Show | a0036c0229t0005a0036c0237t0005a0037c0224t0001others(11): Show | a0036c0229t0005g0207 a0036c0237t0005g0201 a0037c0224t0001g0218 others(11): Show |
14 | 298 | 0.0470 | 8 | c.266 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21598586 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01258.hp1 HG01515.hp1 others(19): Show |
a0010a0019a0061others(17): Show | a0010c0004a0019c0003a0061c0043others(17): Show | a0010c0004t0002a0019c0003t0001a0061c0043t0001others(17): Show | a0010c0004t0002g0237 a0010c0004t0002g0247 a0019c0003t0001g0270 others(19): Show |
22 | 298 | 0.0738 | 8 | c.266 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21638691 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02630.hp2 HG03209.hp1 others(3): Show |
a0007a0031a0032others(3): Show | a0007c0165a0031c0218a0032c0244others(3): Show | a0007c0165t0001a0031c0218t0002a0032c0244t0003others(3): Show | a0007c0165t0001g0008 a0031c0218t0002g0130 a0032c0244t0003g0180 others(3): Show |
6 | 298 | 0.0201 | 8 | c.481 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 27/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21723743 | C | CCCACCCC others(1): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18942.hp2 NA18955.hp2 others(1): Show |
a0009a0014a0034others(1): Show | a0009c0270a0014c0007a0034c0020others(1): Show | a0009c0270t0006a0014c0007t0003a0034c0020t0006others(1): Show | a0009c0270t0006g0148 a0014c0007t0003g0289 a0034c0020t0006g0145 others(1): Show |
4 | 298 | 0.0134 | 8 | c.726 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 44/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21726891 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02132.hp2 HG02523.hp2 others(5): Show |
a0026a0027a0078others(5): Show | a0026c0089a0027c0012a0078c0093others(5): Show | a0026c0089t0001a0027c0012t0003a0078c0093t0002others(5): Show | a0026c0089t0001g0028 a0027c0012t0003g0031 a0078c0093t0002g0030 others(5): Show |
8 | 298 | 0.0269 | 8 | c.744 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21726936 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01081.hp2 others(31): Show |
a0002a0004a0005others(27): Show | a0002c0110a0004c0054a0005c0160others(29): Show | a0002c0110t0005a0004c0054t0002a0005c0160t0003others(29): Show | a0002c0110t0005g0245 a0004c0054t0002g0063 a0005c0160t0003g0010 others(31): Show |
34 | 298 | 0.1141 | 8 | 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 | 21763352 | A | AAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01070.hp2 others(59): Show |
a0003a0004a0013others(50): Show | a0003c0010a0003c0084a0004c0009others(54): Show | a0003c0010t0001a0003c0084t0001a0004c0009t0004others(54): Show | a0003c0010t0001g0037 a0003c0010t0001g0062 a0003c0084t0001g0032 others(59): Show |
62 | 298 | 0.2081 | 8 | c.894 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 54/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21765610 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG01934.hp2 others(7): Show |
a0014a0034a0049others(7): Show | a0014c0007a0034c0020a0049c0132others(7): Show | a0014c0007t0003a0034c0020t0006a0049c0132t0005others(7): Show | a0014c0007t0003g0289 a0034c0020t0006g0145 a0049c0132t0005g0235 others(7): Show |
10 | 298 | 0.0336 | 8 | c.910 others(23): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21786301 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG02451.hp1 others(1): Show |
a0006a0067a0071others(1): Show | a0006c0142a0067c0037a0071c0049others(1): Show | a0006c0142t0003a0067c0037t0003a0071c0049t0005others(1): Show | a0006c0142t0003g0055 a0067c0037t0003g0282 a0071c0049t0005g0252 others(1): Show |
4 | 298 | 0.0134 | 8 | c.959 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 58/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789763 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18948.hp2 NA18974.hp2 others(2): Show |
a0004a0005a0026others(2): Show | a0004c0009a0005c0116a0026c0089others(2): Show | a0004c0009t0002a0005c0116t0018a0026c0089t0001others(2): Show | a0004c0009t0002g0038 a0005c0116t0018g0097 a0026c0089t0001g0028 others(2): Show |
5 | 298 | 0.0168 | 8 | c.100 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG02965.hp2 others(2): Show |
a0085a0087a0122others(2): Show | a0085c0150a0087c0106a0122c0182others(2): Show | a0085c0150t0002a0087c0106t0006a0122c0182t0008others(2): Show | a0085c0150t0002g0295 a0087c0106t0006g0096 a0122c0182t0008g0044 others(2): Show |
5 | 298 | 0.0168 | 8 | c.100 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21838716 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02486.hp2 HG02559.hp2 others(7): Show |
a0053a0061a0080others(7): Show | a0053c0100a0061c0043a0080c0164others(7): Show | a0053c0100t0004a0061c0043t0001a0080c0164t0005others(7): Show | a0053c0100t0004g0009 a0061c0043t0001g0242 a0080c0164t0005g0013 others(7): Show |
10 | 298 | 0.0336 | 8 | c.106 others(29): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 65/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21885169 | T | TGTAAAAA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(8): Show |
a0006a0017a0021others(8): Show | a0006c0142a0017c0016a0021c0050others(8): Show | a0006c0142t0003a0017c0016t0003a0021c0050t0003others(8): Show | a0006c0142t0003g0055 a0017c0016t0003g0172 a0021c0050t0003g0264 others(8): Show |
11 | 298 | 0.0369 | 8 | c.125 others(27): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 76/81 | chr7 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302529 | G | GTTTATAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01169.hp2 HG01192.hp2 others(8): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0006c0006others(4): Show | a0001c0001t0001a0002c0002t0001a0006c0006t0001others(4): Show | a0001c0001t0001g0149 a0001c0001t0001g0218 a0001c0001t0001g0229 others(8): Show |
11 | 266 | 0.0414 | 8 | c.111 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02257.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0211 others(2): Show |
5 | 266 | 0.0188 | 8 | c.111 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57356444 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG01192.hp2 others(9): Show |
a0002a0004a0006others(1): Show | a0002c0002a0004c0004a0006c0006others(1): Show | a0002c0002t0001a0004c0004t0001a0006c0006t0001others(1): Show | a0002c0002t0001g0126 a0002c0002t0001g0134 a0002c0002t0001g0135 others(9): Show |
12 | 266 | 0.0451 | 8 | c.953 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 59/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01070.hp2 others(25): Show |
a0002a0010a0057others(2): Show | a0002c0002a0002c0023a0010c0092others(3): Show | a0002c0002t0001a0002c0023t0001a0010c0092t0001others(3): Show | a0002c0002t0001g0006 a0002c0002t0001g0117 a0002c0002t0001g0118 others(25): Show |
28 | 266 | 0.1053 | 8 | c.936 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57421902 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02622.hp1 others(13): Show |
a0007a0011a0014others(7): Show | a0007c0008a0007c0016a0011c0018others(9): Show | a0007c0008t0002a0007c0016t0001a0011c0018t0001others(9): Show | a0007c0008t0002g0046 a0007c0008t0002g0078 a0007c0008t0002g0081 others(13): Show |
16 | 266 | 0.0602 | 8 | c.537 others(25): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57427138 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp1 others(30): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(9): Show | a0001c0001t0001g0237 a0001c0001t0001g0238 a0002c0002t0001g0216 others(30): Show |
33 | 266 | 0.1241 | 8 | c.525 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57487288 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(150): Show |
a0001a0004a0005others(40): Show | a0001c0001a0001c0026a0001c0027others(56): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(58): Show | a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0170 others(150): Show |
153 | 266 | 0.5752 | 8 | c.151 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57487323 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0007a0017a0019others(5): Show | a0007c0008a0007c0016a0007c0017others(8): Show | a0007c0008t0002a0007c0016t0001a0007c0017t0001others(8): Show | a0007c0008t0002g0046 a0007c0008t0002g0078 a0007c0008t0002g0081 others(13): Show |
16 | 266 | 0.0602 | 8 | c.151 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57491081 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01358.hp2 HG02132.hp2 others(15): Show |
a0004a0018a0028others(2): Show | a0004c0004a0018c0011a0028c0021others(2): Show | a0004c0004t0001a0018c0011t0001a0028c0021t0001others(2): Show | a0004c0004t0001g0038 a0004c0004t0001g0068 a0004c0004t0001g0072 others(15): Show |
18 | 266 | 0.0677 | 8 | c.133 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499014 | A | AACAAACA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01257.hp1 HG01358.hp2 others(24): Show |
a0004a0018a0028others(5): Show | a0004c0004a0018c0011a0028c0021others(5): Show | a0004c0004t0001a0018c0011t0001a0028c0021t0001others(5): Show | a0004c0004t0001g0038 a0004c0004t0001g0040 a0004c0004t0001g0067 others(24): Show |
27 | 266 | 0.1015 | 8 | c.133 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499673 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01257.hp1 HG01361.hp1 others(18): Show |
a0004a0007a0018others(7): Show | a0004c0004a0007c0008a0018c0011others(7): Show | a0004c0004t0001a0007c0008t0002a0018c0011t0001others(7): Show | a0004c0004t0001g0040 a0004c0004t0001g0067 a0004c0004t0001g0068 others(18): Show |
21 | 266 | 0.0790 | 8 | c.133 others(27): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225034515 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(10): Show |
a0007a0008a0015others(4): Show | a0007c0009a0008c0007a0015c0012others(4): Show | a0007c0009t0001a0008c0007t0001a0015c0012t0001others(4): Show | a0007c0009t0001g0005 a0007c0009t0001g0006 a0008c0007t0001g0003 others(10): Show |
13 | 240 | 0.0542 | 8 | c.135 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 11/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225049773 | C | CCTATCTA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01257.hp2 others(8): Show |
a0003a0005a0006others(4): Show | a0003c0002a0005c0005a0006c0006others(4): Show | a0003c0002t0001a0005c0005t0001a0006c0006t0001others(4): Show | a0003c0002t0001g0110 a0003c0002t0001g0121 a0003c0002t0001g0127 others(8): Show |
11 | 240 | 0.0458 | 8 | 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 | 225089464 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02280.hp2 HG03239.hp2 others(2): Show |
a0040a0078a0080others(2): Show | a0040c0122a0078c0089a0080c0090others(2): Show | a0040c0122t0001a0078c0089t0001a0080c0090t0001others(2): Show | a0040c0122t0001g0093 a0078c0089t0001g0027 a0080c0090t0001g0026 others(2): Show |
5 | 240 | 0.0208 | 8 | c.357 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225165570 | T | TTTGTTTG others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02027.hp2 HG02109.hp1 others(7): Show |
a0014a0024a0042others(5): Show | a0014c0013a0024c0056a0042c0046others(5): Show | a0014c0013t0001a0024c0056t0001a0042c0046t0001others(5): Show | a0014c0013t0001g0226 a0014c0013t0001g0227 a0014c0013t0001g0228 others(7): Show |
10 | 240 | 0.0417 | 8 | c.544 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 35/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225232280 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(47): Show |
a0001a0010a0011others(13): Show | a0001c0001a0001c0008a0010c0010others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(16): Show | a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0147 others(47): Show |
50 | 240 | 0.2083 | 8 | c.651 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 42/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01167.hp2 HG01261.hp1 others(10): Show |
a0001a0016a0029others(4): Show | a0001c0001a0016c0018a0029c0033others(4): Show | a0001c0001t0001a0016c0018t0001a0029c0033t0001others(4): Show | a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0169 others(10): Show |
13 | 240 | 0.0542 | 8 | c.801 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225276942 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01257.hp2 HG02071.hp2 others(5): Show |
a0005a0006a0082others(3): Show | a0005c0005a0005c0031a0006c0006others(4): Show | a0005c0005t0001a0005c0031t0001a0006c0006t0001others(4): Show | a0005c0005t0001g0116 a0005c0031t0001g0146 a0006c0006t0001g0119 others(5): Show |
8 | 240 | 0.0333 | 8 | c.817 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225276999 | A | AAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 homoSapiens_chm13v2.hp1 |
a0070a0107 | a0070c0080a0107c0084 | a0070c0080t0001a0107c0084t0001 | a0070c0080t0001g0218 a0107c0084t0001g0207 |
2 | 240 | 0.0083 | 8 | c.817 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 53/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225334908 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02451.hp1 HG02622.hp2 others(10): Show |
a0001a0004a0007others(7): Show | a0001c0001a0004c0004a0007c0009others(8): Show | a0001c0001t0001a0004c0004t0001a0007c0009t0001others(8): Show | a0001c0001t0001g0158 a0004c0004t0001g0070 a0007c0009t0001g0004 others(10): Show |
13 | 240 | 0.0542 | 8 | c.100 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335149 | A | ACATGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(70): Show |
a0001a0006a0008others(23): Show | a0001c0001a0001c0008a0006c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(27): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 others(70): Show |
73 | 240 | 0.3042 | 8 | c.100 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335800 | T | TACATACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01257.hp1 others(6): Show |
a0004a0016a0083others(1): Show | a0004c0004a0004c0083a0016c0018others(2): Show | a0004c0004t0001a0004c0083t0001a0016c0018t0001others(2): Show | a0004c0004t0001g0035 a0004c0004t0001g0050 a0004c0004t0001g0053 others(6): Show |
9 | 240 | 0.0375 | 8 | c.100 others(29): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |