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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(2757): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 62 | 0.0161 | 2764 | c.*53 others(2775): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
VWA3B_chr2_98082167_98318299 | 98237769 | A | AACAATAT others(2757): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 238 | 0.0042 | 2764 | c.267 others(2783): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182041 | C | CCACACTC others(2758): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 301 | 0.0033 | 2765 | c.193 others(2782): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2758): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0096 | 1 | 2 | 0.5000 | 2765 | c.44- others(2778): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43233674 | C | CAGTGTGC others(2758): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02922.hp1 |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0013 | a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 |
3 | 183 | 0.0164 | 2765 | c.171 others(2784): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 15/16 | chr13 | TogoVar | |||||||
NAA15_chr4_139296505_139396384 | 139362534 | G | GAGTGCTG others(2758): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 a0001c0001t0004g0085 |
2 | 332 | 0.0060 | 2765 | c.175 others(2782): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 53345631 | T | TAAAGACA others(2758): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0015 | 1 | 162 | 0.0062 | 2765 | c.100 others(2784): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064009 | T | TAAAAATA others(2758): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0085 | 1 | 364 | 0.0027 | 2765 | c.130 others(2782): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2758): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0229 | 1 | 254 | 0.0039 | 2765 | c.989 others(2782): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2758): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 18 | 0.0556 | 2765 | c.372 others(2780): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2758): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 | 1 | 18 | 0.0556 | 2765 | c.372 others(2780): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2758): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 18 | 0.0556 | 2765 | c.372 others(2780): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2758): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 18 | 0.0556 | 2765 | c.372 others(2780): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2758): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 18 | 0.0556 | 2765 | c.372 others(2780): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2758): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 18 | 0.0556 | 2765 | c.372 others(2780): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24269282 | C | CTTTTTTT others(2758): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0288 | 1 | 320 | 0.0031 | 2765 | c.-18 others(2776): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1548 | chr22 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2759): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 197 | 0.0051 | 2766 | c.409 others(2783): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2759): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0103 | 1 | 197 | 0.0051 | 2766 | c.409 others(2783): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2759): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 197 | 0.0051 | 2766 | c.409 others(2783): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2759): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0224 | 1 | 288 | 0.0035 | 2766 | c.96+ others(2781): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2759): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0275 | 1 | 76 | 0.0132 | 2766 | c.955 others(2783): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997382 | G | GGGGGCGG others(2759): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 361 | 0.0028 | 2766 | c.-20 others(2777): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 288 | chr6 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74372894 | A | AGGGTTTC others(2759): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 a0001c0001t0007g0133 |
3 | 260 | 0.0115 | 2766 | c.-44 others(2777): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 3411 | chr16 | TogoVar | |||||||
NPIPB15_chr16_74371306_74397115 | 74374236 | T | TGCTCGGC others(2759): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 253 | 0.0040 | 2766 | c.-31 others(2777): Show |
NPIPB15 | ENSG00000196436.9 | transcript | ENST00000692376.1 | protein_coding | 2069 | chr16 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73328441 | T | TTATAGGT others(2759): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 320 | 0.0031 | 2766 | c.127 others(2783): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205345835 | T | TATCTTTG others(2759): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG03098.hp2 |
a0002a0005 | a0002c0022a0005c0013 | a0002c0022t0018a0005c0013t0001a0005c0013t0003 | a0002c0022t0018g0020 a0005c0013t0001g0001 a0005c0013t0003g0002 |
3 | 40 | 0.0750 | 2766 | c.263 others(2787): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PCP4_chr21_39862438_39934392 | 39908212 | T | TCAGATCT others(2759): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 426 | 0.0023 | 2766 | c.61+ others(2781): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2759): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0095 | 1 | 9 | 0.1111 | 2766 | c.*39 others(2777): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCTCTGC others(2759): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 227 | 0.0044 | 2766 | c.166 others(2783): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2759): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0280 | 1 | 254 | 0.0039 | 2766 | c.989 others(2783): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2759): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 254 | 0.0039 | 2766 | c.989 others(2783): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 18 | 0.0556 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0116 | 1 | 18 | 0.0556 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0023 | 1 | 18 | 0.0556 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18994.hp2 NA19010.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0284 others(3): Show |
6 | 23 | 0.2609 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01346.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0158 a0001c0002t0001g0233 a0002c0005t0001g0231 |
3 | 20 | 0.1500 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 a0001c0001t0001g0300 |
2 | 19 | 0.1053 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG02258.hp1 NA18522.hp2 NA19240.hp2 |
a0001a0004 | a0001c0001a0004c0016 | a0001c0001t0001a0004c0016t0001 | a0001c0001t0001g0011 a0001c0001t0001g0240 a0004c0016t0001g0028 |
3 | 20 | 0.1500 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 18 | 0.0556 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0245 | 1 | 18 | 0.0556 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 18 | 0.0556 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2759): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0008 a0001c0010t0001g0009 |
2 | 19 | 0.1053 | 2766 | c.372 others(2781): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 197 | 0.0051 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 197 | 0.0051 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 197 | 0.0051 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 197 | 0.0051 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02280.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 199 | 0.0151 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01168.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0010 | a0001c0001t0001g0022 a0001c0001t0001g0081 a0001c0001t0001g0192 others(1): Show |
6 | 202 | 0.0297 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0073 | 1 | 197 | 0.0051 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714957 | T | TACCACTG others(2760): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0102 | 1 | 267 | 0.0037 | 2767 | c.127 others(2784): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |