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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32949251 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0007 | a0002c0009t0007g0018 | 1 | 25 | 0.0400 | -18 | c.93+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32983558 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02976.hp2 others(2): Show |
a0003a0005a0024others(2): Show | a0003c0008a0005c0056a0024c0034others(2): Show | a0003c0008t0003a0005c0056t0001a0024c0034t0006others(2): Show | a0003c0008t0003g0116 a0005c0056t0001g0103 a0024c0034t0006g0007 others(2): Show |
5 | 126 | 0.0397 | -18 | c.93+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009242 | ATGTGCAT others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
a0002a0003a0005others(2): Show | a0002c0025a0003c0008a0005c0052others(2): Show | a0002c0025t0008a0003c0008t0003a0005c0052t0006others(2): Show | a0002c0025t0008g0108 a0003c0008t0003g0116 a0005c0052t0006g0099 others(2): Show |
5 | 126 | 0.0397 | -18 | c.93+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33070667 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0092 | 1 | 126 | 0.0079 | -18 | c.32- others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33070669 | CTCTCTAT others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0018 | a0003c0008t0018g0001 | 1 | 124 | 0.0081 | -18 | c.32- others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33070673 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0124 | 1 | 54 | 0.0185 | -18 | c.32- others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33195732 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02129.hp1 HG02257.hp1 others(17): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0053others(14): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0004others(16): Show | a0001c0001t0006g0097 a0001c0002t0001g0101 a0001c0002t0004g0110 others(17): Show |
20 | 23 | 0.8696 | -18 | c.31+ others(35): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050261 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02155.hp1 NA18942.hp1 others(11): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0001c0001t0002a0010c0014t0001 | a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0203 others(8): Show |
14 | 366 | 0.0383 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050263 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0036 others(27): Show |
35 | 356 | 0.0983 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050265 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02965.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0005 | a0001c0001t0001a0001c0013t0001a0004c0005t0001 | a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0197 others(6): Show |
9 | 368 | 0.0245 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050267 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02735.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0099 a0001c0001t0001g0116 |
3 | 364 | 0.0082 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79050269 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0159 |
2 | 357 | 0.0056 | -18 | c.745 others(35): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87653386 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0198 | 1 | 84 | 0.0119 | -18 | c.-22 others(35): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87661204 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0083 | 1 | 29 | 0.0345 | -18 | c.184 others(33): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87665256 | TTGTGTGT others(11): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp2 NA19090.hp1 |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0023 | 2 | 15 | 0.1333 | -18 | c.*19 others(29): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 900 | chr4 | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87667366 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00735.hp2 others(51): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0008a0001c0003t0002others(3): Show | a0001c0002t0003g0111 a0001c0002t0008g0068 a0001c0003t0002g0008 others(32): Show |
54 | 428 | 0.1262 | -18 | c.*40 others(29): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 3010 | chr4 | TogoVar | |||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(6): Show |
20 | 25 | 0.8000 | -18 | c.*26 others(27): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 266 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 911470 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0015 | a0001c0001t0008g0161 a0001c0001t0008g0163 a0001c0001t0008g0173 others(2): Show |
5 | 20 | 0.2500 | -18 | c.823 others(35): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTC1B_chrX_72771890_72853803 | 72840165 | CAAAGCAA others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0002 | 1 | 26 | 0.0385 | -18 | c.-94 others(35): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843061 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 399 | 0.0025 | -18 | c.-20 others(29): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1980 | chr19 | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22073639 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0009a0004c0005t0001others(1): Show | a0001c0001t0003g0008 a0001c0001t0009g0108 a0004c0005t0001g0021 others(1): Show |
4 | 322 | 0.0124 | -18 | c.730 others(31): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119077652 | GTATATGT others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 236 | 0.0042 | -18 | c.87+ others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089999 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01516.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0181 |
3 | 9 | 0.3333 | -18 | c.88- others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119091785 | ACCTGTGG others(11): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0063 | 1 | 236 | 0.0042 | -18 | c.88- others(33): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51566232 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0216 a0002c0014t0001g0217 |
2 | 32 | 0.0625 | -18 | c.286 others(35): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51605517 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01255.hp1 HG02055.hp1 others(44): Show |
a0001a0006a0012 | a0001c0001a0001c0007a0006c0012others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0007t0002others(2): Show | a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 others(43): Show |
47 | 212 | 0.2217 | -18 | c.87+ others(35): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68448950 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | NA18995.hp1 NA19077.hp1 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0003a0001c0017t0003 | a0001c0003t0003g0049 a0001c0017t0003g0059 |
2 | 324 | 0.0062 | -18 | c.939 others(35): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 6/20 | chr10 | TogoVar | |||||||
DNAAF2_chr14_49620174_49640244 | 49620592 | GCAGCTCT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18955.hp1 NA19011.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0027 a0004c0005t0002g0068 a0004c0005t0002g0082 |
4 | 350 | 0.0114 | -18 | c.*49 others(29): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 4581 | chr14 | TogoVar | |||||||
DNAAF5_chr7_721699_791475 | 742292 | CATCAGAT others(11): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0003 | a0003c0010 | a0003c0010t0005 | a0003c0010t0005g0260 | 1 | 376 | 0.0027 | -18 | c.102 others(35): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3344590 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG03225.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0006others(1): Show | a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0005g0338 others(4): Show |
7 | 56 | 0.1250 | -18 | c.790 others(33): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 8/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3350138 | CAGACACA others(11): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0045 a0001c0003t0009g0046 |
2 | 346 | 0.0058 | -18 | c.691 others(35): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123896142 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0055 | a0055c0049 | a0055c0049t0001 | a0055c0049t0001g0078 | 1 | 164 | 0.0061 | -18 | c.928 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 54/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123921691 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0055 | a0055c0049 | a0055c0049t0001 | a0055c0049t0001g0078 | 1 | 9 | 0.1111 | -18 | c.115 others(39): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 65/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21638691 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0277 | 1 | 17 | 0.0588 | -18 | c.481 others(35): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 27/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21765610 | TCACACAC others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(90): Show |
a0001a0003a0004others(67): Show | a0001c0090a0001c0091a0001c0107others(86): Show | a0001c0090t0002a0001c0091t0002a0001c0107t0002others(87): Show | a0001c0090t0002g0027 a0001c0091t0002g0015 a0001c0107t0002g0067 others(90): Show |
93 | 111 | 0.8378 | -18 | c.910 others(33): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 55/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21871819 | TATTGGTT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(134): Show |
a0002a0003a0004others(110): Show | a0002c0001a0002c0002a0003c0009others(123): Show | a0002c0001t0004a0002c0002t0004a0003c0009t0004others(123): Show | a0002c0001t0004g0253 a0002c0001t0004g0277 a0002c0002t0004g0296 others(134): Show |
137 | 296 | 0.4628 | -18 | c.119 others(39): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 73/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57301677 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA19068.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0133 a0004c0004t0001g0038 |
2 | 9 | 0.2222 | -18 | c.113 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57427138 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0107 | 1 | 85 | 0.0118 | -18 | c.525 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 34/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499645 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0057 | 1 | 246 | 0.0041 | -18 | c.133 others(37): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57521063 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp2 others(16): Show |
a0008a0011a0018others(6): Show | a0008c0008a0008c0016a0008c0017others(11): Show | a0008c0008t0002a0008c0016t0001a0008c0017t0001others(11): Show | a0008c0008t0002g0046 a0008c0008t0002g0078 a0008c0008t0002g0081 others(16): Show |
19 | 40 | 0.4750 | -18 | c.279 others(35): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4/73 | chr3 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225078768 | ATCTCTCT others(11): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA18522.hp2 |
a0033a0078 | a0033c0057a0078c0078 | a0033c0057t0001a0078c0078t0001 | a0033c0057t0001g0224 a0078c0078t0001g0221 |
2 | 186 | 0.0108 | -18 | c.242 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078807 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0027 | a0027c0024 | a0027c0024t0001 | a0027c0024t0001g0038 | 1 | 235 | 0.0043 | -18 | c.242 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225094677 | AACAACAA others(11): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG03139.hp2 |
a0021a0068a0072 | a0021c0021a0068c0116a0072c0062 | a0021c0021t0001a0068c0116t0001a0072c0062t0001 | a0021c0021t0001g0019 a0068c0116t0001g0240 a0072c0062t0001g0024 |
3 | 235 | 0.0128 | -18 | c.357 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 21/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225149062 | CTTCCAGG others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0010a0016a0048others(4): Show | a0010c0010a0016c0015a0048c0090others(4): Show | a0010c0010t0001a0016c0015t0001a0048c0090t0001others(4): Show | a0010c0010t0001g0030 a0010c0010t0001g0031 a0010c0010t0001g0032 others(9): Show |
12 | 238 | 0.0504 | -18 | c.494 others(37): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 31/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290641 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02572.hp1 HG03704.hp1 others(2): Show |
a0001a0019a0024others(2): Show | a0001c0001a0019c0014a0024c0028others(2): Show | a0001c0001t0001a0019c0014t0001a0024c0028t0001others(2): Show | a0001c0001t0001g0158 a0019c0014t0001g0081 a0024c0028t0001g0142 others(2): Show |
5 | 160 | 0.0313 | -18 | c.846 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225290645 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0087 | a0087c0118 | a0087c0118t0001 | a0087c0118t0001g0091 | 1 | 161 | 0.0062 | -18 | c.846 others(35): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335344 | TGTGTATA others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(18): Show |
a0004a0022a0023others(6): Show | a0004c0005a0004c0042a0022c0023others(8): Show | a0004c0005t0001a0004c0042t0001a0022c0023t0001others(8): Show | a0004c0005t0001g0116 a0004c0005t0001g0133 a0004c0005t0001g0134 others(18): Show |
21 | 238 | 0.0882 | -18 | c.100 others(39): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78480013 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0004a0010a0080others(2): Show | a0004c0006a0010c0007a0080c0160others(2): Show | a0004c0006t0001a0010c0007t0002a0080c0160t0002others(2): Show | a0004c0006t0001g0148 a0004c0006t0001g0149 a0010c0007t0002g0048 others(4): Show |
7 | 36 | 0.1944 | -18 | c.775 others(35): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 49/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02717.hp2 HG02723.hp1 |
a0001a0048 | a0001c0032a0048c0126 | a0001c0032t0001a0001c0032t0006a0048c0126t0003 | a0001c0032t0001g0248 a0001c0032t0006g0192 a0048c0126t0003g0303 |
3 | 105 | 0.0286 | -18 | c.190 others(37): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 20957808 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp1 NA19010.hp2 |
a0001a0037 | a0001c0001a0037c0077 | a0001c0001t0001a0037c0077t0001 | a0001c0001t0001g0202 a0037c0077t0001g0229 |
2 | 28 | 0.0714 | -18 | c.106 others(39): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar |