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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1227153 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | 30 | c.74- others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1255714 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0024a0002c0007t0008 | a0001c0003t0024g0003 a0002c0007t0008g0040 |
2 | 40 | 0.0500 | 30 | c.74- others(45): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1267634 | T | TAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | 30 | c.106 others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1267634 | T | TAAATAAA others(23): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 40 | 0.0250 | 30 | c.106 others(47): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1350184 | C | CGTGCGGG others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 40 | 0.0250 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1350383 | C | CGTGGAAA others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1350529 | A | AGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0008 | a0004c0008t0016 | a0004c0008t0016g0029 | 1 | 40 | 0.0250 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1350803 | C | CGTGGAAA others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 NA18906.hp1 |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0008 | a0001c0002t0027a0002c0001t0005a0004c0008t0016 | a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 |
3 | 40 | 0.0750 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1351444 | T | TGGGTCCT others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 NA18906.hp1 |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0008 | a0001c0002t0027a0002c0001t0005a0004c0008t0016 | a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 |
3 | 40 | 0.0750 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1351640 | C | CGTGGAAA others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1351640 | C | CGTGGAAA others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 NA18906.hp1 |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0008 | a0001c0002t0027a0002c0001t0005a0004c0008t0016 | a0001c0002t0027g0023 a0002c0001t0005g0035 a0004c0008t0016g0029 |
3 | 40 | 0.0750 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1351725 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02698.hp1 |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0011 | a0002c0001t0003g0017 a0002c0001t0011g0001 |
2 | 40 | 0.0500 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1352126 | G | GCTGTGCA others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG03492.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0009a0002c0001t0020 | a0001c0002t0002g0021 a0001c0002t0009g0039 a0002c0001t0020g0024 |
3 | 40 | 0.0750 | 30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1683834 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03486.hp2 HG03492.hp2 |
a0001a0002 | a0001c0002a0001c0009a0002c0004 | a0001c0002t0002a0001c0009t0012a0002c0004t0018 | a0001c0002t0002g0021 a0001c0009t0012g0006 a0002c0004t0018g0010 |
3 | 40 | 0.0750 | 30 | c.270 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP3_chr1_34860436_34934650 | 34906016 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01361.hp1 HG02071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0044 others(7): Show |
11 | 266 | 0.0414 | 30 | c.-51 others(45): Show |
DLGAP3 | ENSG00000116544.12 | transcript | ENST00000373347.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
DLGAP5_chr14_55143135_55196585 | 55190289 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0292 a0002c0008t0001g0293 |
2 | 362 | 0.0055 | 30 | c.-1- others(45): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 1/18 | chr14 | TogoVar | |||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0240 others(1): Show |
4 | 324 | 0.0124 | 30 | c.327 others(47): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31162356 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0011 | 1 | 126 | 0.0079 | 30 | c.105 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31293163 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0030 | 1 | 126 | 0.0079 | 30 | c.922 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31425695 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03195.hp2 |
a0002a0005 | a0002c0009a0005c0023 | a0002c0009t0010a0005c0023t0020 | a0002c0009t0010g0023 a0005c0023t0020g0110 |
2 | 126 | 0.0159 | 30 | c.908 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31425708 | A | ACACACAC others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG02451.hp1 others(8): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0003c0003others(8): Show | a0001c0001t0002a0001c0002t0001a0003c0003t0002others(8): Show | a0001c0001t0002g0032 a0001c0002t0001g0088 a0003c0003t0002g0043 others(8): Show |
11 | 126 | 0.0873 | 30 | c.908 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31511235 | T | TATATAAT others(23): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 126 | 0.0079 | 30 | c.821 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0045 | a0005c0045t0018 | a0005c0045t0018g0118 | 1 | 126 | 0.0079 | 30 | c.821 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31522363 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0059 | a0002c0059t0012 | a0002c0059t0012g0055 | 1 | 126 | 0.0079 | 30 | c.821 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31559640 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0057 | a0005c0057t0001 | a0005c0057t0001g0109 | 1 | 126 | 0.0079 | 30 | c.821 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 55/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31843843 | G | GATTGTAT others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02040.hp1 HG02129.hp1 others(20): Show |
a0001a0002a0005others(11): Show | a0001c0001a0001c0002a0002c0005others(16): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0007others(16): Show | a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0080 others(20): Show |
23 | 126 | 0.1825 | 30 | c.709 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31843847 | T | TTATTGTA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00673.hp1 others(41): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0002c0005others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0018 a0001c0001t0002g0024 a0001c0001t0002g0032 others(41): Show |
44 | 126 | 0.3492 | 30 | c.709 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31845031 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0002a0005 | a0002c0052a0005c0007 | a0002c0052t0025a0005c0007t0002 | a0002c0052t0025g0095 a0005c0007t0002g0093 |
2 | 126 | 0.0159 | 30 | c.709 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 48/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31951125 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0017 | 1 | 126 | 0.0079 | 30 | c.661 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32050974 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18952.hp1 |
a0001a0013 | a0001c0002a0013c0015 | a0001c0002t0001a0013c0015t0001 | a0001c0002t0001g0051 a0013c0015t0001g0102 |
2 | 126 | 0.0159 | 30 | c.643 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18945.hp1 NA18955.hp1 others(1): Show |
a0001a0004a0006 | a0001c0001a0004c0011a0006c0006 | a0001c0001t0001a0004c0011t0001a0006c0006t0001 | a0001c0001t0001g0037 a0001c0001t0001g0076 a0004c0011t0001g0085 others(1): Show |
4 | 126 | 0.0318 | 30 | c.592 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32435275 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0031 | a0031c0047 | a0031c0047t0005 | a0031c0047t0005g0081 | 1 | 126 | 0.0079 | 30 | c.407 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452328 | T | TGAAAGGG others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0089 | 1 | 126 | 0.0079 | 30 | c.360 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0010 | a0002c0009t0010g0023 | 1 | 126 | 0.0079 | 30 | c.280 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18984.hp1 |
a0001a0031 | a0001c0022a0031c0047 | a0001c0022t0001a0031c0047t0005 | a0001c0022t0001g0036 a0031c0047t0005g0081 |
2 | 126 | 0.0159 | 30 | c.280 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32585699 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 126 | 0.0079 | 30 | c.160 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0023 | a0003c0008t0023g0005 | 1 | 126 | 0.0079 | 30 | c.530 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32879014 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18952.hp1 |
a0001a0005 | a0001c0002a0005c0057 | a0001c0002t0001a0005c0057t0001 | a0001c0002t0001g0051 a0005c0057t0001g0109 |
2 | 126 | 0.0159 | 30 | c.94- others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32879014 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 126 | 0.0079 | 30 | c.94- others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0020 | a0020c0034 | a0020c0034t0001 | a0020c0034t0001g0013 | 1 | 126 | 0.0079 | 30 | c.93+ others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0017 | a0017c0027 | a0017c0027t0001 | a0017c0027t0001g0124 | 1 | 126 | 0.0079 | 30 | c.32- others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 NA18950.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0044 a0002c0002t0006g0039 |
2 | 306 | 0.0065 | 30 | c.-11 others(41): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 306 | 0.0033 | 30 | c.354 others(43): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 394 | 0.0025 | 30 | c.-13 others(41): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | |||||||
DMRTC1B_chrX_72771890_72853803 | 72776950 | T | TTCCTCCT others(23): Show |
5_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 26 | 0.0385 | 30 | c.-37 others(39): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68133 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGCTT others(23): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 54 | 0.0185 | 30 | c.-94 others(47): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72943787 | G | GAGGAGGA others(23): Show |
5_prime_UTR_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 54 | 0.0185 | 30 | c.-30 others(39): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | 68094 | chrX | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 324 | 0.0031 | 30 | c.836 others(45): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123321 | G | GGGGAGAG others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02886.hp1 |
a0001a0007 | a0001c0002a0007c0012 | a0001c0002t0004a0007c0012t0001 | a0001c0002t0004g0215 a0007c0012t0001g0041 |
2 | 238 | 0.0084 | 30 | c.110 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123399 | G | GGGAGGGA others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19030.hp1 |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0001a0011c0018t0016 | a0001c0001t0001g0223 a0011c0018t0016g0218 |
2 | 238 | 0.0084 | 30 | c.110 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |