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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32529378 | A | AATTTTTT others(6): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0096 | 1 | 126 | 0.0079 | 13 | c.216 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32536264 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | 13 | c.216 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 17/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32554868 | G | GAAGGAAA others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0041 | 1 | 126 | 0.0079 | 13 | c.199 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32558944 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0045 | a0005c0045t0018 | a0005c0045t0018g0118 | 1 | 126 | 0.0079 | 13 | c.199 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32558945 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0002a0005 | a0002c0052a0005c0053 | a0002c0052t0025a0005c0053t0004 | a0002c0052t0025g0095a0005c0053t0004g0103 | 2 | 126 | 0.0159 | 13 | c.199 others(32): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32628258 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0002 | 1 | 126 | 0.0079 | 13 | c.133 others(34): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32863509 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0014 | a0003c0014t0010 | a0003c0014t0010g0015 | 1 | 126 | 0.0079 | 13 | c.94- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32883823 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0065 | 1 | 126 | 0.0079 | 13 | c.94- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32887745 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0120 | 1 | 126 | 0.0079 | 13 | c.94- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32964255 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02683.hp1 NA18970.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0002c0016others(3): Show | a0001c0001t0013a0002c0012t0002a0002c0016t0009others(3): Show | a0001c0001t0013g0012a0002c0012t0002g0122a0002c0016t0009g0014others(3): Show | 6 | 126 | 0.0476 | 13 | c.93+ others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33026313 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | 13 | c.32- others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33033554 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG03225.hp1 others(1): Show |
a0002a0003a0005 | a0002c0012a0002c0059a0003c0014others(1): Show | a0002c0012t0002a0002c0059t0012a0003c0014t0010others(1): Show | a0002c0012t0002g0098a0002c0059t0012g0055a0003c0014t0010g0015others(1): Show | 4 | 126 | 0.0318 | 13 | c.32- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33051646 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | 13 | c.32- others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33139868 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | 13 | c.31+ others(30): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 870403 | A | AAACTAAC others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03139.hp1 NA19043.hp1 |
a0001a0003 | a0001c0001a0001c0006a0003c0008 | a0001c0001t0001a0001c0006t0001a0003c0008t0001 | a0001c0001t0001g0280a0001c0006t0001g0204a0003c0008t0001g0295 | 3 | 306 | 0.0098 | 13 | c.538 others(32): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 890085 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0265 | 1 | 306 | 0.0033 | 13 | c.539 others(30): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT2_chr9_1045357_1062552 | 1060726 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00735.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0025others(4): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(12): Show | a0001c0002t0002g0002a0001c0002t0007g0025a0001c0002t0008g0002others(19): Show | 30 | 488 | 0.0615 | 13 | c.*34 others(24): Show |
DMRT2 | ENSG00000173253.16 | transcript | ENST00000358146.7 | protein_coding | 3175 | chr9 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAATAT others(6): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 324 | 0.0031 | 13 | c.836 others(28): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079277 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0132a0001c0001t0008g0227 | 2 | 324 | 0.0062 | 13 | c.836 others(28): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0020others(24): Show | 33 | 324 | 0.1019 | 13 | c.836 others(28): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089292 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0035others(2): Show | a0001c0002t0001a0002c0003t0001a0002c0035t0001others(2): Show | a0001c0002t0001g0238a0002c0003t0001g0086a0002c0003t0001g0087others(4): Show | 7 | 238 | 0.0294 | 13 | c.88- others(28): 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(6): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01069.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0201a0001c0001t0004g0209a0001c0002t0001g0104others(8): Show | 11 | 238 | 0.0462 | 13 | c.88- others(28): 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(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01109.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0124a0001c0001t0001g0205a0001c0002t0001g0083others(2): Show | 5 | 238 | 0.0210 | 13 | c.88- others(28): 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(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0208 | 1 | 238 | 0.0042 | 13 | c.88- others(28): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119089293 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01978.hp1 HG03017.hp1 |
a0001a0002a0006 | a0001c0002a0002c0003a0006c0011 | a0001c0002t0001a0002c0003t0001a0006c0011t0004 | a0001c0002t0001g0095a0002c0003t0001g0084a0006c0011t0004g0108 | 3 | 238 | 0.0126 | 13 | c.88- others(28): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089999 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp1 HG04184.hp1 NA19030.hp1 |
a0001a0011 | a0001c0001a0001c0043a0011c0018 | a0001c0001t0002a0001c0043t0001a0011c0018t0016 | a0001c0001t0002g0054a0001c0043t0001g0170a0011c0018t0016g0218 | 3 | 238 | 0.0126 | 13 | c.88- others(28): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119184059 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02976.hp2 HG03209.hp1 others(3): Show |
a0001a0005 | a0001c0002a0001c0031a0005c0014 | a0001c0002t0005a0001c0002t0021a0001c0031t0001others(1): Show | a0001c0002t0005g0216a0001c0002t0021g0036a0001c0031t0001g0232others(3): Show | 6 | 238 | 0.0252 | 13 | c.713 others(32): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51523663 | A | ACAGAGGC others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(145): Show |
a0002a0004a0007others(7): Show | a0002c0002a0002c0004a0002c0006others(18): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(22): Show | a0002c0002t0001g0005a0002c0002t0001g0213a0002c0002t0001g0214others(141): Show | 148 | 346 | 0.4278 | 13 | c.243 others(32): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA others(6): Show |
splice_region_variant others(1): Show |
LOW | HG02630.hp2 HG02723.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0010a0002c0002a0002c0008 | a0001c0010t0002a0002c0002t0001a0002c0008t0001 | a0001c0010t0002g0276a0002c0002t0001g0244a0002c0002t0001g0245others(6): Show | 9 | 346 | 0.0260 | 13 | c.88- others(23): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51601290 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03579.hp2 |
a0002a0013 | a0002c0033a0013c0034 | a0002c0033t0007a0013c0034t0007 | a0002c0033t0007g0210a0013c0034t0007g0211 | 2 | 346 | 0.0058 | 13 | c.87+ others(30): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68461828 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0031a0001c0009t0004g0032a0001c0009t0004g0033 | 3 | 326 | 0.0092 | 13 | c.588 others(30): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 NA19083.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014 | 2 | 432 | 0.0046 | 13 | c.*42 others(24): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTCTCTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0151 | 1 | 456 | 0.0022 | 13 | c.125 others(28): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF1_chr16_84140308_84182918 | 84156415 | G | GTATCCAG others(6): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0088 | 1 | 456 | 0.0022 | 13 | c.741 others(28): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF4_chr15_55425308_55513234 | 55498593 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0004 | a0001c0001t0002g0261a0001c0001t0002g0262a0001c0001t0002g0263others(6): Show | 9 | 338 | 0.0266 | 13 | c.-25 others(28): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0158a0001c0001t0001g0202a0001c0001t0001g0207others(25): Show | 42 | 296 | 0.1419 | 13 | c.429 others(30): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF8_chr16_4729537_4754396 | 4739265 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01255.hp2 others(12): Show |
a0002a0004a0017 | a0002c0002a0004c0004a0017c0027 | a0002c0002t0001a0002c0002t0009a0004c0004t0001others(2): Show | a0002c0002t0001g0011a0002c0002t0001g0063a0002c0002t0001g0122others(8): Show | 15 | 386 | 0.0389 | 13 | c.277 others(28): Show |
DNAAF8 | ENSG00000166246.14 | transcript | ENST00000299320.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3247159 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0009 | 1 | 362 | 0.0028 | 13 | c.*54 others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 2146 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3268897 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0020 | a0001c0020t0024 | a0001c0020t0024g0067 | 1 | 362 | 0.0028 | 13 | c.278 others(32): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3293292 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19012.hp1 NA19056.hp2 |
a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0352a0001c0006t0008g0356 | 2 | 362 | 0.0055 | 13 | c.223 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 25/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3310385 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 362 | 0.0028 | 13 | c.167 others(32): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3332887 | C | CGTGTGTG others(6): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0353 | 1 | 362 | 0.0028 | 13 | c.982 others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3336252 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0025 | 1 | 362 | 0.0028 | 13 | c.982 others(30): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3387884 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02165.hp2 HG03834.hp1 others(10): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0031 | a0001c0004t0003g0086a0001c0004t0003g0088a0001c0004t0003g0089others(10): Show | 13 | 362 | 0.0359 | 13 | c.84- others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123765585 | T | TATCTATC others(6): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 170 | 0.0059 | 13 | c.215 others(30): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911596 | G | GGGGAGTC others(6): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 HG03195.hp1 |
a0031a0047a0052 | a0031c0040a0047c0051a0052c0037 | a0031c0040t0001a0047c0051t0001a0052c0037t0001 | a0031c0040t0001g0017a0047c0051t0001g0039a0052c0037t0001g0130 | 3 | 170 | 0.0177 | 13 | c.101 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911657 | G | GGGGGGTC others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0036 | 1 | 170 | 0.0059 | 13 | c.101 others(32): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911672 | G | GGGGGGTC others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02109.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0003a0002c0004a0005c0007others(1): Show | a0001c0003t0002a0002c0004t0002a0005c0007t0002others(1): Show | a0001c0003t0002g0049a0002c0004t0002g0035a0002c0004t0002g0143others(7): Show | 10 | 170 | 0.0588 | 13 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911672 | G | GGGGGGTT others(6): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0006 | a0006c0027 | a0006c0027t0001 | a0006c0027t0001g0115 | 1 | 170 | 0.0059 | 13 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911673 | G | GGGGAGTC others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01168.hp1 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0041others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0041t0001others(10): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0058others(21): Show | 24 | 170 | 0.1412 | 13 | c.101 others(34): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |