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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPP10_chr2_114437641_115850780 | 114477859 | A | ATGTATAT others(31): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02818.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0004a0001c0004t0007others(3): Show | a0001c0002t0001g0019 a0001c0004t0004g0021 a0001c0004t0007g0054 others(6): Show |
9 | 53 | 0.1698 | 38 | c.60+ others(55): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 114477859 | A | ATGTATGT others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02809.hp2 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0003 | a0002c0001t0001g0020 a0003c0003t0003g0048 |
2 | 46 | 0.0435 | 38 | c.60+ others(55): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115712540 | T | TTATATAT others(31): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0001 | a0002c0001t0015 | a0002c0001t0015g0018 | 1 | 8 | 0.1250 | 38 | c.577 others(57): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115712540 | T | TTTTATTT others(31): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 a0003c0003t0003g0002 |
2 | 9 | 0.2222 | 38 | c.577 others(57): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154608320 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0024 | 1 | 23 | 0.0435 | 38 | c.628 others(57): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPY30_chr2_32018905_32044805 | 32036490 | T | TGAAACCC others(31): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18952.hp1 NA19084.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show |
4 | 382 | 0.0105 | 38 | c.84+ others(53): Show |
DPY30 | ENSG00000162961.14 | transcript | ENST00000342166.10 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97323627 | T | TATGTACA others(31): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 50 | 0.0200 | 38 | c.205 others(59): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97376887 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0041 | 1 | 33 | 0.0303 | 38 | c.197 others(57): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 15/22 | chr1 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 115 | 0.0087 | 38 | c.669 others(53): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0041 a0001c0002t0002g0091 a0001c0002t0004g0145 |
3 | 117 | 0.0256 | 38 | c.669 others(53): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02155.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0132 others(2): Show |
5 | 119 | 0.0420 | 38 | c.669 others(53): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02300.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014a0001c0002t0027 | a0001c0002t0002g0219 a0001c0002t0002g0222 a0001c0002t0014g0038 others(1): Show |
4 | 118 | 0.0339 | 38 | c.669 others(53): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0034 | 1 | 115 | 0.0087 | 38 | c.669 others(53): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26418540 | T | TTATAAAT others(31): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18960.hp2 NA19062.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0165 |
3 | 380 | 0.0079 | 38 | c.244 others(55): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439922 | A | AAAATATA others(31): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0173 | 1 | 257 | 0.0039 | 38 | c.889 others(53): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439922 | A | AATATATA others(31): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18945.hp2 NA18979.hp1 others(3): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0006 | a0001c0001t0004a0001c0001t0007a0004c0003t0001others(1): Show | a0001c0001t0004g0092 a0001c0001t0007g0054 a0004c0003t0001g0062 others(3): Show |
6 | 262 | 0.0229 | 38 | c.889 others(53): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439934 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 a0001c0001t0001g0333 |
2 | 376 | 0.0053 | 38 | c.889 others(53): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439936 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01346.hp2 NA21309.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0312 a0003c0004t0001g0315 |
2 | 256 | 0.0078 | 38 | c.889 others(53): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439936 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02818.hp2 |
a0003 | a0003c0004a0003c0005 | a0003c0004t0001a0003c0005t0001 | a0003c0004t0001g0033 a0003c0005t0001g0023 |
2 | 256 | 0.0078 | 38 | c.889 others(53): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439936 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG01258.hp1 NA18941.hp1 NA18971.hp1 others(2): Show |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0009 | a0001c0001t0001a0006c0008t0001a0007c0009t0001 | a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0075 others(2): Show |
5 | 259 | 0.0193 | 38 | c.889 others(53): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC7_chr16_57689806_57736805 | 57724752 | C | CTCTCCTA others(31): Show |
frameshift_variant | HIGH | NA18522.hp1 | a0023 | a0023c0036 | a0023c0036t0001 | a0023c0036t0001g0294 | 1 | 386 | 0.0026 | 38 | c.167 others(47): Show |
p.Lys others(5): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 13/19 | 1929/3387 | 1714/2625 | 572/874 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
DROSHA_chr5_31395494_31537093 | 31397451 | C | CATATATA others(31): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02976.hp1 |
a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0289 a0003c0006t0003g0290 a0003c0006t0003g0292 |
3 | 297 | 0.0101 | 38 | c.*39 others(49): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3042 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31397452 | T | TTATATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00673.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0005g0321 a0001c0001t0008g0248 a0001c0002t0001g0040 others(8): Show |
11 | 56 | 0.1964 | 38 | c.*39 others(49): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3041 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAATATA others(31): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 259 | 0.0039 | 38 | c.342 others(55): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TAATTATA others(31): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0127 | 1 | 112 | 0.0089 | 38 | c.342 others(55): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56654586 | C | CTATATAT others(31): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG03579.hp2 others(1): Show |
a0003a0012a0026others(1): Show | a0003c0006a0012c0009a0026c0055others(1): Show | a0003c0006t0001a0012c0009t0003a0026c0055t0002others(1): Show | a0003c0006t0001g0003 a0012c0009t0003g0063 a0026c0055t0002g0021 others(1): Show |
4 | 46 | 0.0870 | 38 | c.121 others(57): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 10/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708224 | T | TATATTAT others(31): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0064 | 1 | 305 | 0.0033 | 38 | c.478 others(57): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTNA_chr18_34705298_34896844 | 34747104 | C | CTATCTAT others(31): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0075 | 1 | 40 | 0.0250 | 38 | c.-1- others(53): Show |
DTNA | ENSG00000134769.23 | transcript | ENST00000444659.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTWD1_chr15_49616048_49661232 | 49633043 | C | CTATATAT others(31): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 261 | 0.0038 | 38 | c.408 others(53): Show |
DTWD1 | ENSG00000104047.15 | transcript | ENST00000403028.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DUSP14_chr17_37484891_37518498 | 37509104 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 344 | 0.0029 | 38 | c.-18 others(57): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP15_chr20_31856077_31875527 | 31873821 | G | GAAGGAAG others(31): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 181 | 0.0055 | 38 | c.-34 others(49): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 3295 | chr20 | TogoVar | |||||||
DUSP16_chr12_12468282_12567863 | 12560946 | T | TCACACAC others(31): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 187 | 0.0053 | 38 | c.-36 others(57): Show |
DUSP16 | ENSG00000111266.9 | transcript | ENST00000298573.9 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49441106 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 281 | 0.0036 | 38 | c.-53 others(57): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 1/17 | chr18 | TogoVar | |||||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0171 | 1 | 107 | 0.0093 | 38 | c.130 others(57): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047641 | G | GTGTGTGT others(31): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 107 | 0.0093 | 38 | c.130 others(57): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1I1_chr7_95767554_96103424 | 95823952 | C | CTATATAT others(31): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0086 a0001c0001t0001g0130 a0001c0004t0001g0101 others(1): Show |
4 | 46 | 0.0870 | 38 | c.315 others(55): Show |
DYNC1I1 | ENSG00000158560.14 | transcript | ENST00000447467.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158912720 | C | CCTAAGAA others(31): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0242 | 1 | 272 | 0.0037 | 38 | c.159 others(55): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915309 | G | GGACACGC others(31): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02257.hp2 HG02258.hp2 others(5): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0004c0004t0002a0004c0004t0006others(1): Show | a0004c0004t0001g0180 a0004c0004t0002g0137 a0004c0004t0002g0138 others(5): Show |
8 | 271 | 0.0295 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916145 | G | GTGGTTGA others(31): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0029 | a0003c0029t0004 | a0003c0029t0004g0249 | 1 | 156 | 0.0064 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916242 | T | TGTGAAAC others(31): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0272 | 1 | 267 | 0.0037 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916404 | C | CGGCATGC others(31): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 266 | 0.0038 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916747 | T | TACACGCT others(31): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0235 | 1 | 73 | 0.0137 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916943 | C | CTGGTTGA others(31): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03942.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 a0002c0002t0001g0101 |
2 | 266 | 0.0075 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917051 | G | GACACGCT others(31): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0115 a0001c0001t0009g0227 |
2 | 272 | 0.0074 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917065 | C | CATTAAGG others(31): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01123.hp2 HG01243.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 a0002c0002t0001g0045 a0002c0002t0001g0062 others(5): Show |
8 | 174 | 0.0460 | 38 | c.179 others(57): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 185 | 0.0054 | 38 | c.*75 others(47): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 185 | 0.0054 | 38 | c.*75 others(47): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37519748 | T | TTGTTTTT others(31): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0272 | 1 | 212 | 0.0047 | 38 | c.*72 others(49): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7219 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DYRK1A_chr21_37361773_37531358 | 37519753 | T | TTTGTTTT others(31): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0138a0001c0001t0142a0001c0001t0143 | a0001c0001t0138g0323 a0001c0001t0142g0324 a0001c0001t0143g0322 |
3 | 328 | 0.0091 | 38 | c.*72 others(49): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 12/12 | 7225 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DZIP1L_chr3_138056990_138120608 | 138118232 | A | ATTTTTCT others(31): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0148 | 1 | 310 | 0.0032 | 38 | c.-29 others(49): Show |
DZIP1L | ENSG00000158163.15 | transcript | ENST00000327532.7 | protein_coding | 2625 | chr3 | TogoVar |