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 | 33163628 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(72): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0022others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(50): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0037 others(72): Show |
75 | 126 | 0.5952 | 20 | c.31+ others(37): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79003947 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0144 |
2 | 372 | 0.0054 | 20 | c.238 others(39): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 15/15 | chr5 | TogoVar | |||||||
DMP1_chr4_87645280_87669357 | 87667382 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0041 | 1 | 430 | 0.0023 | 20 | c.*40 others(31): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 3026 | chr4 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 NA18950.hp1 NA18960.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005a0002c0002t0006 | a0002c0002t0003g0012 a0002c0002t0003g0081 a0002c0002t0005g0007 others(5): Show |
8 | 306 | 0.0261 | 20 | c.-11 others(31): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | |||||||
DMRT2_chr9_1045357_1062552 | 1060726 | A | ATTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 488 | 0.0021 | 20 | c.*34 others(31): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3175 | chr9 | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGCTT others(13): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 54 | 0.0185 | 20 | c.-94 others(37): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22054103 | T | TACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01099.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0038 others(23): Show |
28 | 324 | 0.0864 | 20 | c.-32 others(31): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 2710 | chr8 | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22079269 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0079 a0001c0003t0002g0029 |
2 | 324 | 0.0062 | 20 | c.836 others(35): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079273 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0049 | 1 | 324 | 0.0031 | 20 | c.836 others(35): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02135.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0235 a0001c0001t0001g0240 |
3 | 324 | 0.0093 | 20 | c.836 others(35): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089277 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 238 | 0.0042 | 20 | c.88- others(35): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 238 | 0.0042 | 20 | c.88- others(35): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173668 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 NA21309.hp1 |
a0002a0027 | a0002c0047a0027c0022 | a0002c0047t0001a0027c0022t0003 | a0002c0047t0001g0065 a0027c0022t0003g0011 |
2 | 238 | 0.0084 | 20 | c.668 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173774 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0002a0001c0019t0011 | a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 others(5): Show |
8 | 238 | 0.0336 | 20 | c.668 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01106.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0002g0043 a0001c0002t0001g0123 a0001c0002t0001g0157 others(5): Show |
8 | 238 | 0.0336 | 20 | c.668 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02976.hp2 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0021a0003c0005t0001 | a0001c0002t0021g0036 a0003c0005t0001g0159 |
2 | 238 | 0.0084 | 20 | c.668 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03139.hp2 HG03486.hp1 |
a0001a0002 | a0001c0004a0002c0047 | a0001c0004t0003a0002c0047t0001 | a0001c0004t0003g0005 a0001c0004t0003g0007 a0002c0047t0001g0065 |
3 | 238 | 0.0126 | 20 | c.668 others(39): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119202865 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0010 | a0010c0010 | a0010c0010t0007 | a0010c0010t0007g0004 | 1 | 238 | 0.0042 | 20 | c.774 others(37): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 32/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119219556 | A | AATTTATT others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0010 | a0010c0010 | a0010c0010t0007 | a0010c0010t0007g0002 a0010c0010t0007g0003 |
2 | 238 | 0.0084 | 20 | c.801 others(37): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(13): Show |
splice_region_variant others(1): Show |
LOW | NA18975.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0322 | 1 | 346 | 0.0029 | 20 | c.88- others(30): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68412224 | G | GGTTTTTG others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(36): Show |
a0001 | a0001c0002a0001c0003a0001c0015others(1): Show | a0001c0002t0012a0001c0003t0003a0001c0003t0009others(2): Show | a0001c0002t0012g0126 a0001c0003t0003g0001 a0001c0003t0003g0002 others(34): Show |
39 | 326 | 0.1196 | 20 | c.*28 others(31): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 1839 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68412224 | G | GTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0014 | a0001c0002t0010g0006 a0001c0002t0014g0306 |
2 | 326 | 0.0061 | 20 | c.*28 others(31): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 1839 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68412229 | T | TTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0090 a0001c0002t0004g0015 |
2 | 326 | 0.0061 | 20 | c.*28 others(31): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 1834 | chr10 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68427650 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01978.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0015others(1): Show | a0001c0003t0003a0001c0004t0004a0001c0015t0003others(1): Show | a0001c0003t0003g0064 a0001c0003t0003g0069 a0001c0003t0003g0072 others(8): Show |
11 | 326 | 0.0337 | 20 | c.220 others(39): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 14/20 | chr10 | TogoVar | |||||||
DNAAF10_chr2_68124805_68162527 | 68130111 | G | GATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0036 | a0001c0005t0036g0269 | 1 | 432 | 0.0023 | 20 | c.*11 others(31): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 8/8 | 1126 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132593332 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 276 | 0.0036 | 20 | c.114 others(39): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0007 | a0007c0010 | a0007c0010t0004 | a0007c0010t0004g0415 | 1 | 456 | 0.0022 | 20 | c.125 others(35): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0039 | 1 | 456 | 0.0022 | 20 | c.125 others(35): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0243 | 1 | 456 | 0.0022 | 20 | c.125 others(35): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84168827 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0307 | 1 | 456 | 0.0022 | 20 | c.103 others(39): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF2_chr14_49620174_49640244 | 49630234 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053 | 1 | 352 | 0.0028 | 20 | c.186 others(39): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DNAAF2_chr14_49620174_49640244 | 49630669 | C | CCACACAC others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01070.hp2 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 a0003c0003t0001g0025 a0003c0003t0001g0033 others(6): Show |
16 | 352 | 0.0455 | 20 | c.186 others(39): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55167634 | A | AAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
a0002a0003 | a0002c0003a0002c0006a0003c0002 | a0002c0003t0001a0002c0006t0001a0003c0002t0001 | a0002c0003t0001g0010 a0002c0003t0001g0012 a0002c0003t0001g0041 others(9): Show |
19 | 398 | 0.0477 | 20 | c.-11 others(31): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1022 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0072 | 1 | 398 | 0.0025 | 20 | c.-18 others(31): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG03209.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0056 a0004c0005t0001g0163 |
2 | 398 | 0.0050 | 20 | c.-18 others(31): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55169933 | G | GTATTTAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(3): Show | a0001c0001t0001g0125 a0002c0003t0001g0072 a0003c0002t0001g0002 others(15): Show |
69 | 398 | 0.1734 | 20 | c.-34 others(31): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3321 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02071.hp1 HG02074.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0018 a0001c0004t0001g0045 a0001c0004t0001g0102 others(6): Show |
12 | 398 | 0.0302 | 20 | c.-43 others(31): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55455387 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0002a0003c0003t0001a0004c0005t0002 | a0001c0001t0002g0261 a0003c0003t0001g0010 a0003c0003t0001g0027 others(5): Show |
8 | 338 | 0.0237 | 20 | c.638 others(37): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55498593 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02572.hp2 HG02723.hp1 others(5): Show |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0002a0004c0005t0003 | a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0309 others(5): Show |
8 | 338 | 0.0237 | 20 | c.-25 others(35): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204721 | T | TTTAAATA others(13): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 296 | 0.0034 | 20 | c.-19 others(31): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1889 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204845 | T | TTTAAATA others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | 296 | 0.0135 | 20 | c.-18 others(31): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1765 | chrX | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3268897 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0314 a0001c0001t0007g0315 |
2 | 362 | 0.0055 | 20 | c.278 others(39): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310333 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(5): Show | a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0221 others(25): Show |
28 | 362 | 0.0774 | 20 | c.167 others(39): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3310388 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 362 | 0.0028 | 20 | c.167 others(39): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3328188 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0005 a0001c0008t0015g0006 |
2 | 362 | 0.0055 | 20 | c.110 others(39): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 12/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3365373 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0361 | 1 | 362 | 0.0028 | 20 | c.613 others(37): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 6/36 | chr20 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3408059 | T | TCCAGCGC others(13): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG01358.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0278 a0001c0001t0003g0127 a0001c0001t0007g0311 others(34): Show |
37 | 362 | 0.1022 | 20 | c.-50 others(29): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 391 | chr20 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123765564 | T | TTATCTAT others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 170 | 0.0059 | 20 | c.215 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123766287 | G | GCCTACCT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0001a0009 | a0001c0059a0009c0008 | a0001c0059t0002a0009c0008t0001 | a0001c0059t0002g0014 a0009c0008t0001g0013 |
2 | 170 | 0.0118 | 20 | c.215 others(37): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02809.hp2 others(2): Show |
a0010a0020a0039 | a0010c0028a0010c0084a0020c0077others(1): Show | a0010c0028t0001a0010c0084t0002a0020c0077t0002others(1): Show | a0010c0028t0001g0067 a0010c0028t0001g0084 a0010c0084t0002g0104 others(2): Show |
5 | 170 | 0.0294 | 20 | c.842 others(35): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |