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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPP3_chr11_66475434_66514657 | 66512020 | G | GTGTATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0177 |
2 | 340 | 0.0059 | 42 | c.*27 others(53): Show |
DPP3 | ENSG00000254986.8 | transcript | ENST00000531863.6 | protein_coding | 2364 | chr11 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154313685 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 | 1 | 12 | 0.0833 | 42 | c.244 others(63): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154666198 | T | TACATACA others(35): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0009 | 1 | 17 | 0.0588 | 42 | c.681 others(59): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP7_chr9_137105546_137119733 | 137114088 | C | CGACCCCC others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 294 | 0.0034 | 42 | c.322 others(55): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP7_chr9_137105546_137119733 | 137114090 | A | ACCCCCGC others(35): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 452 | 0.0022 | 42 | c.322 others(55): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP7_chr9_137105546_137119733 | 137114131 | A | ACCCCCGC others(35): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 449 | 0.0045 | 42 | c.321 others(56): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP7_chr9_137105546_137119733 | 137114144 | A | ACCCCGCC others(35): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 450 | 0.0022 | 42 | c.321 others(55): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP7_chr9_137105546_137119733 | 137114213 | A | ACCCCCGC others(35): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01069.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0003others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0020 others(13): Show |
41 | 158 | 0.2595 | 42 | c.321 others(55): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP7_chr9_137105546_137119733 | 137114213 | A | ACCCCCGC others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02647.hp1 others(11): Show |
a0001a0006a0015 | a0001c0001a0001c0006a0001c0025others(2): Show | a0001c0001t0001a0001c0006t0001a0001c0025t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0034 others(4): Show |
14 | 131 | 0.1069 | 42 | c.321 others(55): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
DPP8_chr15_65437467_65522689 | 65450025 | T | TAGCGCGA others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(102): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0093 others(102): Show |
105 | 334 | 0.3144 | 42 | c.252 others(59): Show |
DPP8 | ENSG00000074603.19 | transcript | ENST00000300141.11 | protein_coding | 19/19 | chr15 | TogoVar | |||||||
DPP8_chr15_65437467_65522689 | 65450045 | G | GCAACCTT others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 334 | 0.0030 | 42 | c.252 others(59): Show |
DPP8 | ENSG00000074603.19 | transcript | ENST00000300141.11 | protein_coding | 19/19 | chr15 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4672110 | C | CGAATATA others(35): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 262 | 0.0038 | 42 | c.*44 others(53): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3116 | chr19 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63592011 | G | GAGGGGAG others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0311 a0001c0007t0003g0312 a0001c0007t0003g0314 others(3): Show |
6 | 244 | 0.0246 | 42 | c.158 others(61): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97376887 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0017 | 1 | 33 | 0.0303 | 42 | c.197 others(61): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 15/22 | chr1 | TogoVar | |||||||
DPYSL5_chr2_26843132_26955351 | 26928704 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0161 | 1 | 115 | 0.0087 | 42 | c.669 others(57): 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(35): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19004.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0040 a0001c0002t0006g0131 |
2 | 116 | 0.0172 | 42 | c.669 others(57): 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(35): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0085 a0001c0002t0002g0088 a0001c0002t0002g0146 others(3): Show |
6 | 120 | 0.0500 | 42 | c.669 others(57): 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(35): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp2 HG01516.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0017others(1): Show | a0001c0002t0002g0045 a0001c0002t0002g0082 a0001c0002t0002g0090 others(3): Show |
6 | 120 | 0.0500 | 42 | c.669 others(57): 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(35): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0096 a0001c0002t0002g0137 a0001c0002t0004g0144 |
3 | 117 | 0.0256 | 42 | c.669 others(57): 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(35): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0058 | 1 | 115 | 0.0087 | 42 | c.669 others(57): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRC1_chr2_26396920_26461711 | 26439922 | A | AAAATATA others(35): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0184 | 1 | 257 | 0.0039 | 42 | c.889 others(57): 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(35): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02132.hp1 NA19054.hp2 others(1): Show |
a0003a0004a0005 | a0003c0005a0004c0003a0005c0006 | a0003c0005t0001a0004c0003t0001a0005c0006t0001 | a0003c0005t0001g0306 a0004c0003t0001g0228 a0004c0003t0001g0233 others(1): Show |
4 | 260 | 0.0154 | 42 | c.889 others(57): 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(35): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 |
a0003 | a0003c0004a0003c0005 | a0003c0004t0001a0003c0005t0003 | a0003c0004t0001g0259 a0003c0005t0003g0260 |
2 | 256 | 0.0078 | 42 | c.889 others(57): 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(35): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0186 | 1 | 255 | 0.0039 | 42 | c.889 others(57): Show |
DRC1 | ENSG00000157856.12 | transcript | ENST00000288710.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31397451 | C | CATATATA others(35): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0065 | 1 | 295 | 0.0034 | 42 | c.*39 others(53): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3042 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31397452 | T | TTATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG02257.hp1 NA19007.hp2 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0003a0001c0017t0001 | a0001c0003t0003g0052 a0001c0003t0003g0060 a0001c0017t0001g0295 |
3 | 48 | 0.0625 | 42 | c.*39 others(53): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3041 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAAAATA others(35): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0259 | 1 | 259 | 0.0039 | 42 | c.342 others(59): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAATATA others(35): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0269 | 1 | 259 | 0.0039 | 42 | c.342 others(59): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31480178 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0274 | 1 | 19 | 0.0526 | 42 | c.207 others(61): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 16/35 | chr5 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117471760 | G | GCCACCCC others(35): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp2 others(38): Show |
a0001a0002 | a0001c0005a0001c0009a0001c0011others(22): Show | a0001c0005t0002a0001c0009t0001a0001c0009t0002others(27): Show | a0001c0005t0002g0079 a0001c0009t0001g0068 a0001c0009t0001g0069 others(38): Show |
41 | 188 | 0.2181 | 42 | c.295 others(59): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 15/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117471760 | G | GCCACCCC others(35): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0003 | a0003c0038 | a0003c0038t0002 | a0003c0038t0002g0128 | 1 | 148 | 0.0068 | 42 | c.295 others(58): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 15/32 | chr11 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31444727 | C | CCACTCCC others(35): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 1 | 344 | 0.0029 | 42 | c.-31 others(53): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3013 | chr18 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31450317 | G | GGGGAAAT others(35): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0009 | a0009c0023 | a0009c0023t0001 | a0009c0023t0001g0055 | 1 | 344 | 0.0029 | 42 | c.48+ others(57): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708279 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 396 | 0.0025 | 42 | c.478 others(61): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76486884 | C | CTGCTGCT others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0108 | 1 | 174 | 0.0057 | 42 | c.908 others(59): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68020851 | G | GTATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 174 | 0.0057 | 42 | c.-25 others(53): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2432 | chr16 | TogoVar | |||||||
DUSP22_chr6_287487_356355 | 343658 | T | TGTGTGCA others(35): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01070.hp1 others(37): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0132 a0001c0002t0002g0133 others(36): Show |
40 | 210 | 0.1905 | 42 | c.189 others(59): Show |
DUSP22 | ENSG00000112679.15 | transcript | ENST00000419235.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DVL1_chr1_1330278_1354418 | 1350228 | A | AGGGGGCC others(35): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 341 | 0.0029 | 42 | c.-11 others(53): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 811 | chr1 | TogoVar | |||||||
DXO_chr6_31964815_31977138 | 31975451 | T | TGTGTGTG others(35): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 432 | 0.0023 | 42 | c.-35 others(53): Show |
DXO | ENSG00000204348.10 | transcript | ENST00000337523.10 | protein_coding | 3314 | chr6 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32532485 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 269 | 0.0037 | 42 | c.108 others(59): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32532505 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0276 | 1 | 334 | 0.0030 | 42 | c.108 others(59): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 8/12 | chr3 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158917457 | T | TCCTCCAC others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0043 | 1 | 51 | 0.0196 | 42 | c.179 others(61): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917541 | T | TCCTCCAC others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00621.hp2 others(88): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0013a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(9): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(88): Show |
91 | 269 | 0.3383 | 42 | c.179 others(61): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128650541 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011 a0001c0003t0001g0284 |
2 | 364 | 0.0055 | 42 | c.186 others(59): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
DYNLT1_chr6_158631474_158649743 | 158636069 | A | ATATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 185 | 0.0054 | 42 | c.*75 others(51): Show |
DYNLT1 | ENSG00000146425.11 | transcript | ENST00000367089.8 | protein_coding | 404 | chr6 | TogoVar | |||||||
DYRK1A_chr21_37361773_37531358 | 37440130 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 66 | 0.0152 | 42 | c.10+ others(59): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTGT others(35): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0031 | 1 | 123 | 0.0081 | 42 | c.301 others(59): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYRK1A_chr21_37361773_37531358 | 37479612 | G | GTTTTTGT others(35): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 | 1 | 123 | 0.0081 | 42 | c.301 others(59): Show |
DYRK1A | ENSG00000157540.22 | transcript | ENST00000647188.2 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71530040 | A | ATGCAGAT others(35): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03017.hp2 HG03490.hp2 others(1): Show |
a0001a0019 | a0001c0004a0001c0005a0001c0013others(1): Show | a0001c0004t0001a0001c0005t0001a0001c0013t0001others(1): Show | a0001c0004t0001g0149 a0001c0005t0001g0056 a0001c0013t0001g0057 others(1): Show |
4 | 190 | 0.0211 | 42 | c.128 others(61): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 13/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DYSF_chr2_71461699_71691763 | 71530040 | A | ATGCAGAT others(35): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03017.hp1 HG03490.hp1 others(1): Show |
a0001a0020 | a0001c0005a0001c0009a0001c0074others(1): Show | a0001c0005t0001a0001c0009t0001a0001c0074t0001others(1): Show | a0001c0005t0001g0089 a0001c0009t0001g0091 a0001c0074t0001g0094 others(1): Show |
4 | 206 | 0.0194 | 42 | c.138 others(61): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 14/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |