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 | 840722 | GGGGTGTG others(7): Show |
G | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0084 | 1 | 306 | 0.0033 | -14 | c.-11 others(25): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 858860 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02970.hp2 NA19030.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0002g0291others(1): Show | 4 | 306 | 0.0131 | -14 | c.538 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858864 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0089a0001c0001t0001g0271a0001c0001t0002g0270others(9): Show | 12 | 306 | 0.0392 | -14 | c.538 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858866 | AAAAAATA others(7): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02809.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0296a0001c0001t0001g0299a0001c0001t0001g0300others(4): Show | 7 | 306 | 0.0229 | -14 | c.538 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 858868 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 306 | 0.0033 | -14 | c.538 others(33): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007 | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0003t0007g0288others(2): Show | 5 | 306 | 0.0163 | -14 | c.823 others(31): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT2_chr9_1045357_1062552 | 1047009 | GCGAGCCC others(7): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 |
a0001 | a0001c0003a0001c0026 | a0001c0003t0004a0001c0026t0022 | a0001c0003t0004g0001a0001c0026t0022g0030 | 2 | 488 | 0.0041 | -14 | c.-38 others(25): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3347 | chr9 | TogoVar | ||||||
DMRT3_chr9_971655_996732 | 987412 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(94): Show | 205 | 458 | 0.4476 | -14 | c.455 others(31): Show |
DMRT3 | ENSG00000064218.5 | transcript | ENST00000190165.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTB1_chr1_53454399_53472488 | 53458073 | CAGAGAGA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02683.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009 | 7 | 394 | 0.0178 | -14 | c.-13 others(25): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843064 | AAAAAAAA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -14 | c.-20 others(25): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1977 | chr19 | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843065 | AAAAAAAA others(7): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02080.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023a0001c0002t0001g0002a0001c0002t0001g0020 | 5 | 402 | 0.0124 | -14 | c.-20 others(25): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1976 | chr19 | TogoVar | ||||||
DMTF1_chr7_87147453_87201325 | 87197703 | TTTTTTTT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG03453.hp1 others(2): Show |
a0001a0008 | a0001c0003a0008c0014 | a0001c0003t0004a0008c0014t0004 | a0001c0003t0004g0042a0001c0003t0004g0045a0001c0003t0004g0192others(1): Show | 5 | 362 | 0.0138 | -14 | c.*25 others(25): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 1379 | chr7 | TogoVar | ||||||
DMWD_chr19_45777947_45797845 | 45794413 | CTTTTTTT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(99): Show |
a0001 | a0001c0002a0001c0004a0001c0013others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(6): Show | a0001c0002t0002g0002a0001c0002t0002g0006a0001c0002t0002g0019others(21): Show | 102 | 440 | 0.2318 | -14 | c.-16 others(25): Show |
DMWD | ENSG00000185800.12 | transcript | ENST00000270223.7 | protein_coding | 1569 | chr19 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119082016 | TATATACA others(7): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 |
a0010 | a0010c0013 | a0010c0013t0009 | a0010c0013t0009g0228a0010c0013t0009g0229 | 2 | 238 | 0.0084 | -14 | c.87+ others(31): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119082018 | TATACACA others(7): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0227 | 1 | 238 | 0.0042 | -14 | c.87+ others(31): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | NA18944.hp1 NA18962.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0006 | a0002c0003t0001g0091a0002c0003t0006g0061 | 2 | 238 | 0.0084 | -14 | c.88- others(29): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51542147 | GAATCACA others(7): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0132 | 1 | 346 | 0.0029 | -14 | c.110 others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 9/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51566228 | GTGGGGTG others(7): Show |
G | intron_variant | MODIFIER | NA18950.hp2 NA18952.hp2 NA19066.hp2 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0001a0002c0006t0001g0045 | 4 | 346 | 0.0116 | -14 | c.286 others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(99): Show |
a0001a0002a0004others(7): Show | a0001c0010a0002c0002a0002c0004others(13): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0010others(15): Show | a0001c0010t0002g0276a0002c0002t0001g0005a0002c0002t0001g0213others(97): Show | 102 | 346 | 0.2948 | -14 | c.286 others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51583107 | TTTTTTTT others(7): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01070.hp1 others(17): Show |
a0002a0004a0015 | a0002c0002a0002c0008a0002c0014others(3): Show | a0002c0002t0001a0002c0008t0001a0002c0014t0001others(3): Show | a0002c0002t0001g0226a0002c0002t0001g0227a0002c0002t0001g0256others(17): Show | 20 | 346 | 0.0578 | -14 | c.88- others(29): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51605517 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 HG03579.hp1 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0001a0005c0009t0004 | a0005c0009t0001g0128a0005c0009t0004g0129a0005c0009t0004g0130others(2): Show | 5 | 346 | 0.0145 | -14 | c.87+ others(31): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 432 | 0.0023 | -14 | c.*42 others(25): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84162571 | AGCACTTT others(7): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0289 | 1 | 456 | 0.0022 | -14 | c.863 others(31): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG03704.hp1 |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0006t0001 | a0002c0003t0001g0087a0002c0006t0001g0137 | 2 | 398 | 0.0050 | -14 | c.323 others(29): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55171305 | CCACACAC others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG03195.hp2 HG03486.hp2 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0004 | a0001c0004t0001g0045a0002c0003t0004g0059 | 3 | 398 | 0.0075 | -14 | c.-48 others(25): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4693 | chr19 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3262965 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0005a0001c0008t0015g0006 | 2 | 362 | 0.0055 | -14 | c.287 others(33): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3284173 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0005c0022others(3): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(11): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(76): Show | 79 | 362 | 0.2182 | -14 | c.248 others(33): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 27/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3319082 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0230a0001c0001t0001g0231a0001c0001t0001g0232others(4): Show | 7 | 362 | 0.0193 | -14 | c.135 others(31): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3332898 | GTGGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0029a0001c0003t0004g0030a0001c0003t0004g0034others(1): Show | 4 | 362 | 0.0111 | -14 | c.982 others(29): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3344590 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01433.hp2 HG02015.hp2 others(8): Show |
a0001a0005 | a0001c0003a0001c0004a0001c0006others(1): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0006others(3): Show | a0001c0003t0004g0027a0001c0003t0004g0032a0001c0003t0004g0043others(8): Show | 11 | 362 | 0.0304 | -14 | c.790 others(29): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3350134 | CACACAGA others(7): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0012 | a0001c0003t0004g0027a0001c0003t0004g0036a0001c0003t0004g0038others(4): Show | 7 | 362 | 0.0193 | -14 | c.691 others(31): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3394942 | CTTTTTTC others(7): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0356 | 1 | 362 | 0.0028 | -14 | c.84- others(31): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123768133 | CTCCTCCT others(7): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0031 | 1 | 170 | 0.0059 | -14 | c.298 others(29): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 2/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123866229 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01943.hp1 NA20805.hp1 |
a0003a0029a0053 | a0003c0054a0029c0033a0053c0057 | a0003c0054t0002a0029c0033t0002a0053c0057t0002 | a0003c0054t0002g0063a0029c0033t0002g0062a0053c0057t0002g0133 | 3 | 170 | 0.0177 | -14 | c.716 others(31): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123896144 | CACACAGA others(7): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0065 | a0005c0065t0001 | a0005c0065t0001g0042 | 1 | 170 | 0.0059 | -14 | c.928 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911844 | GCATCTGT others(7): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0135 | 1 | 170 | 0.0059 | -14 | c.101 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911894 | ACTGTCCC others(7): Show |
A | intron_variant | MODIFIER | HG03486.hp1 HG03579.hp2 |
a0030a0036 | a0030c0035a0036c0036 | a0030c0035t0002a0036c0036t0002 | a0030c0035t0002g0148a0036c0036t0002g0028 | 2 | 170 | 0.0118 | -14 | c.101 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123912431 | GCAGGGGG others(7): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG01981.hp1 HG02027.hp1 others(2): Show |
a0001a0035a0072 | a0001c0002a0035c0055a0072c0075 | a0001c0002t0002a0035c0055t0002a0072c0075t0001 | a0001c0002t0002g0072a0001c0002t0002g0113a0001c0002t0002g0161others(2): Show | 5 | 170 | 0.0294 | -14 | c.101 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123912433 | AGGGGGTC others(7): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02922.hp2 others(3): Show |
a0009a0015a0043 | a0009c0012a0015c0018a0043c0047 | a0009c0012t0002a0015c0018t0002a0043c0047t0002 | a0009c0012t0002g0029a0009c0012t0002g0030a0009c0012t0002g0031others(3): Show | 6 | 170 | 0.0353 | -14 | c.101 others(33): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21594063 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG01071.hp2 others(15): Show |
a0005a0007a0012others(14): Show | a0005c0160a0007c0165a0012c0169others(14): Show | a0005c0160t0003a0007c0165t0001a0012c0169t0008others(14): Show | a0005c0160t0003g0010a0007c0165t0001g0008a0012c0169t0008g0116others(15): Show | 18 | 298 | 0.0604 | -14 | c.266 others(33): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 14/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21602557 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp2 others(21): Show |
a0005a0007a0008others(19): Show | a0005c0160a0007c0109a0007c0165others(20): Show | a0005c0160t0003a0007c0109t0001a0007c0165t0001others(20): Show | a0005c0160t0003g0010a0007c0109t0001g0092a0007c0165t0001g0008others(21): Show | 24 | 298 | 0.0805 | -14 | c.364 others(31): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 18/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21638691 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0202 | a0202c0241 | a0202c0241t0001 | a0202c0241t0001g0194 | 1 | 298 | 0.0034 | -14 | c.481 others(31): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 27/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21670867 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0096 | a0096c0071 | a0096c0071t0001 | a0096c0071t0001g0112 | 1 | 298 | 0.0034 | -14 | c.532 others(35): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 30/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21765610 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03834.hp2 |
a0164a0189 | a0164c0193a0189c0206 | a0164c0193t0004a0189c0206t0004 | a0164c0193t0004g0188a0189c0206t0004g0174 | 2 | 298 | 0.0067 | -14 | 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 | 21902392 | ATACACAA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0019 | a0019c0003 | a0019c0003t0001 | a0019c0003t0001g0270a0019c0003t0001g0271 | 2 | 298 | 0.0067 | -14 | c.*11 others(25): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 554 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301677 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(16): Show |
a0001a0004a0038others(2): Show | a0001c0001a0004c0004a0038c0040others(2): Show | a0001c0001t0001a0004c0004t0001a0038c0040t0001others(2): Show | a0001c0001t0001g0145a0001c0001t0001g0170a0001c0001t0001g0171others(16): Show | 19 | 266 | 0.0714 | -14 | c.113 others(31): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302557 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0029 | a0029c0039 | a0029c0039t0001 | a0029c0039t0001g0062 | 1 | 266 | 0.0038 | -14 | c.111 others(33): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57348798 | GATTTACA others(7): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 266 | 0.0038 | -14 | c.967 others(33): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 60/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57415131 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01515.hp2 HG01517.hp1 others(1): Show |
a0001a0064 | a0001c0001a0064c0072 | a0001c0001t0001a0064c0072t0001 | a0001c0001t0001g0172a0001c0001t0001g0212a0001c0001t0001g0213others(1): Show | 4 | 266 | 0.0150 | -14 | c.585 others(31): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 38/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225049047 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0138 | 1 | 240 | 0.0042 | -14 | c.191 others(33): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 15/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |