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 | 32980368 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG01928.hp1 HG02055.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0022a0002c0016a0003c0008others(4): Show | a0001c0022t0001a0002c0016t0009a0003c0008t0015others(4): Show | a0001c0022t0001g0036a0002c0016t0009g0014a0003c0008t0015g0123others(4): Show | 7 | 126 | 0.0556 | -5 | c.93+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32985243 | ATATTT | A | intron_variant | MODIFIER | HG00673.hp1 HG01928.hp1 HG02257.hp1 others(7): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0022a0002c0016others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(7): Show | a0001c0001t0001g0084a0001c0001t0004g0101a0001c0022t0001g0036others(7): Show | 10 | 126 | 0.0794 | -5 | c.93+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32998368 | CAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02717.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0002a0002c0012a0002c0020others(8): Show | a0001c0002t0001a0002c0012t0002a0002c0020t0030others(8): Show | a0001c0002t0001g0025a0002c0012t0002g0122a0002c0020t0030g0125others(8): Show | 11 | 126 | 0.0873 | -5 | c.93+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33002850 | GAAAAA | G | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01928.hp1 others(10): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0022others(8): Show | a0001c0001t0001a0001c0002t0013a0001c0022t0001others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0002t0013g0097others(10): Show | 13 | 126 | 0.1032 | -5 | c.93+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33003689 | CTTATA | C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01928.hp1 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0013others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(10): Show | 13 | 126 | 0.1032 | -5 | c.93+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33014766 | TTTCAA | T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01255.hp1 others(17): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0022others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0013others(15): Show | a0001c0001t0001g0018a0001c0001t0001g0084a0001c0001t0004g0101others(17): Show | 20 | 126 | 0.1587 | -5 | c.93+ others(20): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33018615 | GTTCAA | G | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01069.hp1 others(37): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0002c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(27): Show | a0001c0001t0001g0026a0001c0001t0001g0054a0001c0001t0001g0069others(37): Show | 40 | 126 | 0.3175 | -5 | c.93+ others(20): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33048694 | TAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG01243.hp1 others(30): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0054others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(20): Show | a0001c0001t0001g0018a0001c0001t0001g0062a0001c0001t0001g0069others(30): Show | 33 | 126 | 0.2619 | -5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33081000 | ACACAC | A | intron_variant | MODIFIER | HG02738.hp1 HG03490.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026a0001c0002t0001g0025 | 2 | 126 | 0.0159 | -5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33081256 | ATTTCT | A | intron_variant | MODIFIER | HG03209.hp1 HG03486.hp2 |
a0002a0028 | a0002c0026a0028c0046 | a0002c0026t0006a0028c0046t0029 | a0002c0026t0006g0111a0028c0046t0029g0126 | 2 | 126 | 0.0159 | -5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33106049 | ACACAC | A | intron_variant | MODIFIER | HG02922.hp2 NA19043.hp1 |
a0010a0017 | a0010c0031a0017c0027 | a0010c0031t0001a0017c0027t0001 | a0010c0031t0001g0096a0017c0027t0001g0124 | 2 | 126 | 0.0159 | -5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33112790 | TTAAAG | T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 126 | 0.0079 | -5 | c.32- others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33120878 | CAAAAA | C | intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33124476 | GAAAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(58): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0054others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0054a0001c0001t0001g0062a0001c0001t0001g0080others(58): Show | 61 | 126 | 0.4841 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33156598 | TAAAAC | T | intron_variant | MODIFIER | HG03486.hp2 | a0028 | a0028c0046 | a0028c0046t0029 | a0028c0046t0029g0126 | 1 | 126 | 0.0079 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33174034 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01109.hp1 others(38): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0002c0009others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(25): Show | a0001c0001t0001g0069a0001c0001t0001g0076a0001c0001t0001g0080others(38): Show | 41 | 126 | 0.3254 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33177381 | ATTTTG | A | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 126 | 0.0079 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33190859 | AATATT | A | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 126 | 0.0079 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33190874 | TATATA | T | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp2 |
a0008a0028 | a0008c0010a0028c0046 | a0008c0010t0009a0028c0046t0029 | a0008c0010t0009g0004a0028c0046t0029g0126 | 2 | 126 | 0.0159 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33190924 | AATATT | A | intron_variant | MODIFIER | HG01261.hp1 HG02738.hp1 |
a0001a0009 | a0001c0002a0009c0013 | a0001c0002t0001a0009c0013t0001 | a0001c0002t0001g0025a0009c0013t0001g0017 | 2 | 126 | 0.0159 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33198563 | TATAAC | T | intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0065 | 1 | 126 | 0.0079 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 33200925 | CTTTTT | C | intron_variant | MODIFIER | HG01934.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0087 | 1 | 126 | 0.0079 | -5 | c.31+ others(22): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79046056 | GTGTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(138): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(120): Show | 141 | 372 | 0.3790 | -5 | c.746 others(22): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 5/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79053084 | TCTGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(66): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0028others(58): Show | 69 | 372 | 0.1855 | -5 | c.540 others(22): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
DMGDH_chr5_78992564_79074674 | 79061262 | CACACA | C | intron_variant | MODIFIER | HG00609.hp2 NA18943.hp1 NA18963.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0218others(3): Show | 11 | 372 | 0.0296 | -5 | c.276 others(22): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
DMP1_chr4_87645280_87669357 | 87661204 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(60): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0004a0001c0002t0005a0001c0002t0012others(5): Show | a0001c0002t0004g0003a0001c0002t0004g0006a0001c0002t0004g0009others(23): Show | 63 | 430 | 0.1465 | -5 | c.184 others(20): Show |
DMP1 | ENSG00000152592.15 | transcript | ENST00000339673.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 860406 | GAATTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(51): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0148others(51): Show | 54 | 306 | 0.1765 | -5 | c.538 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRT1_chr9_836697_974090 | 880724 | CAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0279a0001c0001t0001g0301a0001c0001t0004g0065others(5): Show | 8 | 306 | 0.0261 | -5 | c.539 others(24): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72841439 | AGGAAG | A | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp1 HG02015.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0008a0001c0001t0013a0001c0001t0015others(4): Show | a0001c0001t0008g0006a0001c0001t0013g0012a0001c0001t0015g0013others(4): Show | 7 | 26 | 0.2692 | -5 | c.-94 others(22): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1B_chrX_72771890_72853803 | 72841674 | AAAAAC | A | intron_variant | MODIFIER | HG01258.hp1 HG02015.hp1 HG03130.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0003g0009a0001c0001t0008g0006a0001c0001t0009g0011others(4): Show | 7 | 26 | 0.2692 | -5 | c.-94 others(22): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72879147 | GTTTTT | G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0015a0001c0001t0002g0025a0001c0001t0002g0026others(5): Show | 8 | 54 | 0.1482 | -5 | c.-94 others(22): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72879356 | TTTCCC | T | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01952.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(10): Show | 13 | 54 | 0.2407 | -5 | c.-94 others(22): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | GTTTGC | G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0051 | 1 | 54 | 0.0185 | -5 | c.-94 others(22): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72880692 | CTTTCT | C | intron_variant | MODIFIER | HG02015.hp1 HG02071.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019a0001c0001t0020others(1): Show | a0001c0001t0009g0049a0001c0001t0019g0024a0001c0001t0020g0032others(1): Show | 4 | 54 | 0.0741 | -5 | c.-94 others(22): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72893419 | CAACAG | C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | -5 | c.-94 others(24): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMTF1_chr7_87147453_87201325 | 87182993 | TGTAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0186a0001c0001t0002g0011a0001c0001t0002g0040others(9): Show | 17 | 362 | 0.0470 | -5 | c.820 others(20): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DMTF1_chr7_87147453_87201325 | 87197712 | TTTTTA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00735.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0011a0001c0001t0002g0040a0001c0001t0002g0169others(10): Show | 18 | 362 | 0.0497 | -5 | c.*25 others(16): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 1388 | chr7 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22065827 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01106.hp2 others(26): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0242a0001c0001t0002g0004a0001c0001t0002g0016others(21): Show | 29 | 324 | 0.0895 | -5 | c.-17 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22073630 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(207): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(182): Show | 210 | 324 | 0.6482 | -5 | c.730 others(18): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119182711 | ATTAAC | A | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp1 |
a0009 | a0009c0010 | a0009c0010t0007 | a0009c0010t0007g0002a0009c0010t0007g0003a0009c0010t0007g0004 | 3 | 238 | 0.0126 | -5 | c.713 others(24): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119190142 | TATAAG | T | intron_variant | MODIFIER | HG02257.hp1 HG03486.hp2 NA18522.hp1 |
a0005 | a0005c0014 | a0005c0014t0005 | a0005c0014t0005g0033a0005c0014t0005g0034a0005c0014t0005g0038 | 3 | 238 | 0.0126 | -5 | c.731 others(22): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51503699 | TAGAAG | T | intron_variant | MODIFIER | HG00597.hp2 HG04115.hp1 NA18747.hp1 others(10): Show |
a0004 | a0004c0005a0004c0035 | a0004c0005t0001a0004c0035t0001 | a0004c0005t0001g0208a0004c0005t0001g0209a0004c0005t0001g0320others(10): Show | 13 | 346 | 0.0376 | -5 | c.276 others(22): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 16/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51521089 | ATTAAG | A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp1 NA18939.hp1 others(23): Show |
a0002a0004a0017 | a0002c0004a0004c0005a0017c0024 | a0002c0004t0001a0002c0004t0008a0004c0005t0001others(1): Show | a0002c0004t0001g0006a0002c0004t0001g0297a0002c0004t0001g0298others(22): Show | 26 | 346 | 0.0751 | -5 | c.243 others(24): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51609093 | ATAAGT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(144): Show |
a0001a0002a0004others(7): Show | a0001c0010a0002c0002a0002c0004others(17): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0006others(21): Show | a0001c0010t0002g0276a0001c0010t0002g0277a0001c0010t0002g0281others(140): Show | 147 | 346 | 0.4249 | -5 | c.87+ others(22): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51621098 | AAAACC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(133): Show |
a0001a0002a0004others(7): Show | a0001c0010a0002c0002a0002c0004others(16): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0006others(20): Show | a0001c0010t0002g0276a0001c0010t0002g0277a0001c0010t0002g0281others(131): Show | 136 | 346 | 0.3931 | -5 | c.87+ others(20): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68439838 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG02258.hp1 HG02683.hp1 others(4): Show |
a0001 | a0001c0006a0001c0016 | a0001c0006t0004a0001c0016t0004 | a0001c0006t0004g0048a0001c0006t0004g0049a0001c0006t0004g0050others(4): Show | 7 | 326 | 0.0215 | -5 | c.141 others(24): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68464829 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG02027.hp1 HG02055.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0090a0001c0002t0001g0092a0001c0002t0001g0096others(14): Show | 17 | 326 | 0.0522 | -5 | c.587 others(20): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 4/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0010a0001c0001t0011a0001c0001t0020others(2): Show | a0001c0001t0010g0016a0001c0001t0010g0070a0001c0001t0010g0071others(7): Show | 12 | 432 | 0.0278 | -5 | c.*42 others(16): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132591449 | AAATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00741.hp1 others(39): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0010 | a0002c0002t0001a0003c0003t0002a0003c0003t0004others(2): Show | a0002c0002t0001g0057a0003c0003t0002g0003a0003c0003t0002g0005others(37): Show | 42 | 276 | 0.1522 | -5 | c.114 others(24): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132595347 | GGAAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00639.hp2 others(45): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0005others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(4): Show | a0002c0002t0001g0008a0002c0002t0001g0030a0002c0002t0001g0043others(44): Show | 48 | 276 | 0.1739 | -5 | c.114 others(26): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 10/11 | chr8 | TogoVar |