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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG04199.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0003 | a0001c0001t0001g0243a0001c0001t0004g0072a0001c0001t0004g0304others(1): Show | 4 | 306 | 0.0131 | -11 | c.823 others(28): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 930081 | TTTCTTCT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 306 | 0.0033 | -11 | c.967 others(30): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT2_chr9_1045357_1062552 | 1062100 | GTATATAT others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 488 | 0.0021 | -11 | c.*48 others(22): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 4549 | chr9 | TogoVar | ||||||
DMRTA1_chr9_22441824_22460740 | 22448621 | AAAAACTT others(4): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01975.hp2 HG01978.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 6 | 412 | 0.0146 | -11 | c.667 others(26): Show |
DMRTA1 | ENSG00000176399.4 | transcript | ENST00000325870.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72840132 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG02015.hp1 HG02965.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0008a0001c0001t0013a0001c0001t0015others(3): Show | a0001c0001t0008g0006a0001c0001t0013g0012a0001c0001t0015g0013others(3): Show | 6 | 26 | 0.2308 | -11 | c.-94 others(28): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72880692 | CTTTCTTT others(4): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0002g0025others(10): Show | 13 | 54 | 0.2407 | -11 | c.-94 others(28): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41842764 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 402 | 0.0025 | -11 | c.-23 others(22): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 2277 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843068 | AAAAAAAA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02056.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 402 | 0.0050 | -11 | c.-20 others(22): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1973 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41848986 | AATTCAAC others(4): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 402 | 0.0025 | -11 | c.628 others(24): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DMTF1_chr7_87147453_87201325 | 87155730 | TCCCCCAC others(4): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01433.hp1 others(18): Show |
a0001a0008 | a0001c0003a0008c0014 | a0001c0003t0003a0001c0003t0004a0008c0014t0004 | a0001c0003t0003g0008a0001c0003t0003g0012a0001c0003t0003g0018others(7): Show | 21 | 362 | 0.0580 | -11 | c.-13 others(30): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22080499 | GCTTACAC others(4): Show |
G | intron_variant | MODIFIER | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | -11 | c.949 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0020others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(14): Show | a0001c0001t0001g0124a0001c0002t0001g0001a0001c0002t0001g0030others(44): Show | 47 | 238 | 0.1975 | -11 | c.88- others(26): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51583110 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0316 | 1 | 346 | 0.0029 | -11 | c.88- others(26): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68461828 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02818.hp2 others(6): Show |
a0001a0009 | a0001c0004a0009c0023 | a0001c0004t0004a0009c0023t0004 | a0001c0004t0004g0035a0001c0004t0004g0036a0001c0004t0004g0037others(6): Show | 9 | 326 | 0.0276 | -11 | c.588 others(28): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01169.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014 | a0001c0001t0005g0026a0001c0001t0005g0237a0001c0001t0005g0238others(7): Show | 12 | 432 | 0.0278 | -11 | c.*42 others(22): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132595347 | GGAAAAAA others(4): Show |
G | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 276 | 0.0036 | -11 | c.114 others(32): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132669940 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0074 | 1 | 276 | 0.0036 | -11 | c.10+ others(26): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84166037 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(126): Show |
a0001a0002a0007others(8): Show | a0001c0001a0002c0002a0007c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0334a0001c0001t0002g0363a0001c0001t0004g0413others(123): Show | 129 | 456 | 0.2829 | -11 | c.103 others(28): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01884.hp1 others(13): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0002c0003t0004a0004c0005t0001 | a0002c0003t0001g0055a0002c0003t0001g0066a0002c0003t0001g0067others(11): Show | 16 | 398 | 0.0402 | -11 | c.323 others(26): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107220901 | CCCTTTCT others(4): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 296 | 0.0034 | -11 | c.333 others(28): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107220950 | TCTTTCTT others(4): Show |
T | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 296 | 0.0034 | -11 | c.333 others(28): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | chrX | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 296 | 0.0034 | -11 | c.429 others(28): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3387884 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02258.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0013others(1): Show | a0001c0001t0001g0271a0001c0001t0003g0318a0001c0003t0013g0360others(8): Show | 11 | 362 | 0.0304 | -11 | c.84- others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3394949 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00544.hp1 NA18747.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0182a0001c0002t0002g0183 | 2 | 362 | 0.0055 | -11 | c.84- others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123797376 | CTTCTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp1 NA18522.hp2 NA19030.hp2 others(1): Show |
a0020a0055a0056 | a0020c0022a0055c0071a0056c0072 | a0020c0022t0001a0055c0071t0001a0056c0072t0001 | a0020c0022t0001g0120a0020c0022t0001g0121a0055c0071t0001g0129others(1): Show | 4 | 170 | 0.0235 | -11 | c.216 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 13/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123840394 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 170 | 0.0059 | -11 | c.513 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 29/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123866229 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0108 | 1 | 170 | 0.0059 | -11 | c.716 others(28): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123907456 | CCACATTT others(4): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0006 | a0006c0083 | a0006c0083t0001 | a0006c0083t0001g0157 | 1 | 170 | 0.0059 | -11 | c.981 others(30): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123908197 | TCTGTCCC others(4): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0033 | a0033c0063 | a0033c0063t0001 | a0033c0063t0001g0170 | 1 | 170 | 0.0059 | -11 | c.981 others(30): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 57/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123921691 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00738.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0002c0004others(7): Show | a0001c0002t0002a0001c0003t0002a0002c0004t0002others(7): Show | a0001c0002t0002g0072a0001c0002t0002g0116a0001c0002t0002g0161others(20): Show | 23 | 170 | 0.1353 | -11 | c.115 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 65/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21817519 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0207 | a0207c0235 | a0207c0235t0001 | a0207c0235t0001g0206 | 1 | 298 | 0.0034 | -11 | c.105 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 64/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57302550 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 266 | 0.0038 | -11 | c.111 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57342484 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18990.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188a0001c0001t0001g0193 | 2 | 266 | 0.0075 | -11 | c.967 others(30): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 60/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57393625 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03579.hp1 |
a0001a0026 | a0001c0001a0026c0020 | a0001c0001t0001a0026c0020t0004 | a0001c0001t0001g0177a0026c0020t0004g0180a0026c0020t0004g0219 | 3 | 266 | 0.0113 | -11 | c.711 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 44/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57433606 | TTTCCATA others(4): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0040 | 1 | 266 | 0.0038 | -11 | c.483 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 31/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57447591 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0041 | a0041c0036 | a0041c0036t0001 | a0041c0036t0001g0087 | 1 | 266 | 0.0038 | -11 | c.378 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 25/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57509861 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0066 | a0066c0060 | a0066c0060t0001 | a0066c0060t0001g0245 | 1 | 266 | 0.0038 | -11 | c.470 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 5/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57509880 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 |
a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0108a0016c0012t0001g0109 | 2 | 266 | 0.0075 | -11 | c.470 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 5/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57516053 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp1 HG02976.hp2 others(1): Show |
a0012a0047 | a0012c0010a0047c0051 | a0012c0010t0002a0047c0051t0001 | a0012c0010t0002g0253a0012c0010t0002g0259a0012c0010t0002g0260others(1): Show | 4 | 266 | 0.0150 | -11 | c.280 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01257.hp1 HG01361.hp1 others(22): Show |
a0004a0008a0015others(8): Show | a0004c0004a0008c0007a0015c0013others(8): Show | a0004c0004t0001a0008c0007t0001a0015c0013t0001others(8): Show | a0004c0004t0001g0067a0004c0004t0001g0068a0004c0004t0001g0069others(22): Show | 25 | 266 | 0.0940 | -11 | c.279 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57534955 | TGTTTATT others(4): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 |
a0026 | a0026c0020 | a0026c0020t0004 | a0026c0020t0004g0180a0026c0020t0004g0219 | 2 | 266 | 0.0075 | -11 | c.170 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57543315 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG03492.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0261 | 1 | 266 | 0.0038 | -11 | c.-33 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 1/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 224985451 | TGGGGACT others(4): Show |
T | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03669.hp1 others(1): Show |
a0021a0036a0037 | a0021c0034a0036c0120a0037c0121 | a0021c0034t0001a0036c0120t0001a0037c0121t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088others(1): Show | 4 | 240 | 0.0167 | -11 | c.830 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 224991084 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(21): Show |
a0004a0007a0008others(10): Show | a0004c0083a0007c0009a0007c0048others(11): Show | a0004c0083t0001a0007c0009t0001a0007c0048t0001others(11): Show | a0004c0083t0001g0023a0007c0009t0001g0004a0007c0009t0001g0005others(21): Show | 24 | 240 | 0.1000 | -11 | c.831 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225011758 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01257.hp2 HG01496.hp1 others(1): Show |
a0003a0005a0089 | a0003c0002a0005c0005a0005c0041others(1): Show | a0003c0002t0001a0005c0005t0001a0005c0041t0001others(1): Show | a0003c0002t0001g0106a0005c0005t0001g0116a0005c0041t0001g0125others(1): Show | 4 | 240 | 0.0167 | -11 | c.110 others(30): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 10/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225078813 | TCTCTCTC others(4): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0064 | a0064c0049 | a0064c0049t0001 | a0064c0049t0001g0096 | 1 | 240 | 0.0042 | -11 | c.242 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01192.hp1 others(2): Show |
a0007a0016a0031others(2): Show | a0007c0151a0016c0005a0031c0163others(2): Show | a0007c0151t0001a0016c0005t0001a0031c0163t0001others(2): Show | a0007c0151t0001g0214a0016c0005t0001g0083a0031c0163t0001g0156others(2): Show | 5 | 252 | 0.0198 | -11 | c.129 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78471325 | AAGCAGGT others(4): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02717.hp2 others(5): Show |
a0002a0003a0011others(3): Show | a0002c0050a0003c0006a0011c0007others(3): Show | a0002c0050t0002a0003c0006t0001a0011c0007t0002others(3): Show | a0002c0050t0002g0004a0003c0006t0001g0148a0003c0006t0001g0149others(5): Show | 8 | 252 | 0.0318 | -11 | c.851 others(30): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0161 | a0002c0161t0003 | a0002c0161t0003g0246 | 1 | 252 | 0.0040 | -11 | c.775 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78484095 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0189 | a0003c0189t0001 | a0003c0189t0001g0199 | 1 | 252 | 0.0040 | -11 | c.764 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 48/80 | chr17 | TogoVar |