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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDX51_chr12_132131594_132149319 | 132135309 | TCCTCCCA others(26): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 329 | 0.0030 | -33 | c.*39 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1284 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135320 | CCCGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0010 | a0010c0019 | a0010c0019t0002 | a0010c0019t0002g0050 | 1 | 330 | 0.0030 | -33 | c.*39 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1273 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135780 | CCCGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0030 | 1 | 328 | 0.0030 | -33 | c.*34 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 813 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135814 | CCCGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 328 | 0.0030 | -33 | c.*34 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 779 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135883 | CCCGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 331 | 0.0030 | -33 | c.*33 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 710 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135917 | CCCGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 332 | 0.0060 | -33 | c.*33 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 676 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132136011 | TCCTCCCA others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 | 1 | 317 | 0.0032 | -33 | c.*32 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 582 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132136200 | CCCGAGTG others(26): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp2 NA18951.hp2 NA18960.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0018 | a0002c0002t0004g0005 a0002c0002t0004g0006 a0002c0002t0018g0028 |
7 | 323 | 0.0217 | -33 | c.*30 others(44): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 393 | chr12 | TogoVar | |||||||
DEF8_chr16_89943755_89973060 | 89957236 | AAGGAAGT others(26): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0046 | 1 | 390 | 0.0026 | -33 | c.223 others(48): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450550 | ATATATAT others(26): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 353 | 0.0028 | -33 | c.*37 others(42): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 294 | chr20 | TogoVar | |||||||
DEFB124_chr20_31460471_31480127 | 31471451 | GCGGGGGA others(26): Show |
G | intron_variant | MODIFIER | NA18957.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 360 | 0.0056 | -33 | c.58+ others(48): Show |
DEFB124 | ENSG00000180383.4 | transcript | ENST00000317676.3 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20085367 | GAGTTAGA others(26): Show |
G | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 418 | 0.0024 | -33 | c.-27 others(50): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233404054 | TTTTACAT others(26): Show |
T | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 332 | 0.0030 | -33 | c.348 others(52): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKE_chr17_56829151_56874567 | 56851134 | TACCACAT others(26): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18979.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0119 a0001c0002t0004g0120 |
2 | 322 | 0.0062 | -33 | c.109 others(52): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186348447 | TAATCTTT others(26): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0041 | 1 | 232 | 0.0043 | -33 | c.-24 others(54): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1/24 | chr3 | TogoVar | |||||||
DHH_chr12_49081656_49099801 | 49093324 | GTGGGAGG others(26): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 422 | 0.0024 | -33 | c.303 others(48): Show |
DHH | ENSG00000139549.4 | transcript | ENST00000649637.2 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
DHODH_chr16_72003744_72032659 | 72028125 | AAAAGAAA others(26): Show |
A | downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 1 | 412 | 0.0024 | -33 | c.*39 others(44): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 467 | chr16 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23974245 | AACAGTGT others(26): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03225.hp1 |
a0002a0005 | a0002c0002a0005c0008 | a0002c0002t0002a0005c0008t0002 | a0002c0002t0002g0019 a0005c0008t0002g0019 a0005c0008t0002g0037 |
3 | 266 | 0.0113 | -33 | c.*53 others(44): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 4967 | chr14 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2397948 | ACACACAT others(26): Show |
A | intron_variant | MODIFIER | HG02895.hp1 NA18522.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 a0002c0002t0004g0035 |
2 | 48 | 0.0417 | -33 | c.286 others(52): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHX36_chr3_154267546_154329487 | 154310797 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 363 | 0.0028 | -33 | c.642 others(48): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46495215 | TTCTCTTC others(26): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0011 | a0002c0011t0016 | a0002c0011t0016g0194 | 1 | 359 | 0.0028 | -33 | c.284 others(50): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579643 | AAATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01071.hp1 NA18955.hp1 NA18998.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005 | a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0004t0005g0278 |
3 | 262 | 0.0115 | -33 | c.101 others(52): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579645 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0139 | 1 | 233 | 0.0043 | -33 | c.101 others(52): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | chr12 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 337016 | TGTGTGTG others(26): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 88 | 0.0114 | -33 | c.358 others(52): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 29/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 445613 | CAACTGTT others(26): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02280.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(10): Show | a0001c0001t0002g0004 a0001c0001t0002g0025 a0001c0002t0001g0059 others(17): Show |
20 | 88 | 0.2273 | -33 | c.269 others(50): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 685158 | AAAAATAT others(26): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0082 | 1 | 83 | 0.0120 | -33 | c.85+ others(48): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92940995 | TTGTATAT others(26): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(103): Show |
106 | 198 | 0.5354 | -33 | c.54+ others(50): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188813 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0005 | a0005c0012 | a0005c0012t0003 | a0005c0012t0003g0021 | 1 | 208 | 0.0048 | -33 | c.134 others(54): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188815 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0022 | a0022c0040 | a0022c0040t0003 | a0022c0040t0003g0084 | 1 | 204 | 0.0049 | -33 | c.134 others(54): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188817 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03017.hp2 NA18979.hp2 NA18983.hp1 |
a0003a0004a0005 | a0003c0003a0004c0005a0005c0008 | a0003c0003t0004a0004c0005t0002a0005c0008t0003 | a0003c0003t0004g0131 a0004c0005t0002g0169 a0005c0008t0003g0020 |
3 | 206 | 0.0146 | -33 | c.134 others(54): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188819 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01516.hp1 NA18986.hp1 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0033 | a0002c0002t0002g0098 a0004c0005t0033g0184 |
2 | 99 | 0.0202 | -33 | c.134 others(54): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188821 | ATATATGT others(26): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03098.hp2 HG03490.hp1 others(1): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0021a0006c0032others(1): Show | a0001c0001t0001a0002c0021t0018a0006c0032t0005others(1): Show | a0001c0001t0001g0072 a0002c0021t0018g0012 a0006c0032t0005g0159 others(1): Show |
4 | 201 | 0.0199 | -33 | c.134 others(54): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188823 | ATATGTAT others(26): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0001c0011a0002c0006 | a0001c0001t0042a0001c0011t0003a0002c0006t0035 | a0001c0001t0042g0042 a0001c0011t0003g0050 a0002c0006t0035g0016 |
3 | 208 | 0.0144 | -33 | c.134 others(54): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197132576 | TATTAAAT others(26): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(155): Show |
a0001a0006a0007others(3): Show | a0001c0001a0001c0004a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(155): Show |
158 | 320 | 0.4938 | -33 | c.102 others(52): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 10/24 | chr3 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197132961 | GCTGAAAT others(26): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(161): Show |
a0001a0006a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(161): Show |
164 | 330 | 0.4970 | -33 | c.102 others(52): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 10/24 | chr3 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1010950 | ACCCCGGG others(26): Show |
A | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0022a0002c0001t0002 | a0001c0002t0022g0034 a0002c0001t0002g0032 |
2 | 40 | 0.0500 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1013598 | CGCCTCCA others(26): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0029 | 1 | 38 | 0.0263 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014688 | CGCCTCCA others(26): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 37 | 0.0270 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1014735 | GAGACCAG others(26): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1016904 | CGCCTCCA others(26): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1016967 | ATGCCTCC others(26): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0029 | 1 | 38 | 0.0263 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1017422 | CGCCTCCA others(26): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011 | 1 | 37 | 0.0270 | -33 | c.73+ others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1117126 | TTTGGAAA others(26): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0006a0001c0002t0010a0002c0001t0001others(2): Show | a0001c0002t0006g0011 a0001c0002t0010g0008 a0002c0001t0001g0018 others(2): Show |
5 | 40 | 0.1250 | -33 | c.74- others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1695548 | AGGGCACA others(26): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0006 | a0001c0002t0006g0011 a0001c0003t0006g0033 |
2 | 40 | 0.0500 | -33 | c.279 others(52): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(26): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02071.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0032 |
2 | 7 | 0.2857 | -33 | c.*25 others(42): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 251 | chr19 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 954788 | CGTGCCAC others(26): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0192 | 1 | 304 | 0.0033 | -33 | c.968 others(52): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
DMRTC2_chr19_41840042_41857333 | 41843045 | AAAAAAAA others(26): Show |
A | upstream_gene_variant | MODIFIER | HG01928.hp2 HG01943.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 400 | 0.0125 | -33 | c.-20 others(44): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 1996 | chr19 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51512462 | ATTTTTAG others(26): Show |
A | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 344 | 0.0029 | -33 | c.264 others(52): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 15/43 | chr15 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55169970 | TCTGTTGC others(26): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 396 | 0.0025 | -33 | c.-34 others(44): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3358 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55462741 | ACACCATA others(26): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 336 | 0.0030 | -33 | c.637 others(50): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar |