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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 303955 | A | ATGGGGAG others(2132): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 119 | 0.0084 | 2139 | c.351 others(2158): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356450 | G | GTCTTCAC others(2132): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0044 | 1 | 71 | 0.0141 | 2139 | c.-39 others(2150): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3644 | chr17 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311194 | T | TCATCATA others(2132): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 314 | 0.0032 | 2139 | c.327 others(2156): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948597 | G | GGCGTGTG others(2132): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 348 | 0.0029 | 2139 | c.114 others(2156): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2133): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0043 | a0001c0043t0001 | a0001c0043t0001g0027 | 1 | 13 | 0.0769 | 2140 | c.354 others(2159): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2133): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0005 | 1 | 13 | 0.0769 | 2140 | c.354 others(2159): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2133): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0012 | 1 | 13 | 0.0769 | 2140 | c.354 others(2159): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057671 | G | GATACTAT others(2133): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 | 1 | 166 | 0.0060 | 2140 | c.164 others(2159): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2133): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 249 | 0.0040 | 2140 | c.-11 others(2151): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2133): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2140 | c.*44 others(2151): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2133): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 21 | 0.0476 | 2140 | c.127 others(2157): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2134): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0018 | a0018c0027 | a0018c0027t0033 | a0018c0027t0033g0060 | 1 | 44 | 0.0227 | 2141 | c.108 others(2158): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2134): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 51 | 0.0392 | 2141 | c.147 others(2158): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375176 | G | GGGAGGAG others(2134): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0026 | 1 | 182 | 0.0055 | 2141 | c.784 others(2156): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2134): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 13 | 0.0769 | 2141 | c.354 others(2160): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2134): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0014 | a0014c0031 | a0014c0031t0001 | a0014c0031t0001g0083 | 1 | 13 | 0.0769 | 2141 | c.354 others(2160): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2134): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02976.hp2 NA18906.hp1 |
a0009a0029a0038 | a0009c0024a0029c0064a0038c0048 | a0009c0024t0001a0029c0064t0002a0038c0048t0001 | a0009c0024t0001g0046 a0029c0064t0002g0101 a0038c0048t0001g0086 |
3 | 15 | 0.2000 | 2141 | c.354 others(2160): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2134): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 30 | 0.0333 | 2141 | c.445 others(2156): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2134): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0133 | 1 | 9 | 0.1111 | 2141 | c.*39 others(2152): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2134): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0033 | 1 | 8 | 0.1250 | 2141 | c.-20 others(2152): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2134): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2141 | c.*44 others(2152): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2135): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 50 | 0.0200 | 2142 | c.147 others(2159): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2135): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 50 | 0.0200 | 2142 | c.147 others(2159): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105239244 | G | GCAGCCCC others(2135): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 42 | 0.0238 | 2142 | c.694 others(2159): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2135): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 13 | 0.0769 | 2142 | c.354 others(2161): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2135): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0006 | a0006c0022 | a0006c0022t0004 | a0006c0022t0004g0039 | 1 | 13 | 0.0769 | 2142 | c.354 others(2161): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2135): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 17 | 0.0588 | 2142 | c.*11 others(2163): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2135): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0131 | 1 | 17 | 0.0588 | 2142 | c.*11 others(2163): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876874 | G | GGGAGGTT others(2135): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0006 | a0006c0027 | a0006c0027t0002 | a0006c0027t0002g0222 | 1 | 170 | 0.0059 | 2142 | c.224 others(2161): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45797764 | G | GGATAGAC others(2135): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0265 | 1 | 290 | 0.0034 | 2142 | c.-12 others(2163): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | chr21 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2135): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 322 | 0.0031 | 2142 | c.*44 others(2153): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(2135): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0143 | 1 | 337 | 0.0030 | 2142 | c.101 others(2161): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347322 | C | CTGGACCA others(2135): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0178 | 1 | 161 | 0.0062 | 2142 | c.204 others(2163): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292556 | G | GCAAGTTA others(2135): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 197 | 0.0051 | 2142 | c.339 others(2159): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2136): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0008 | a0007c0008t0037 | a0007c0008t0037g0110 | 1 | 44 | 0.0227 | 2143 | c.108 others(2160): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(2136): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0210 | 1 | 72 | 0.0139 | 2143 | c.273 others(2160): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882384 | G | GGGGAGAA others(2136): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 221 | 0.0045 | 2143 | c.303 others(2162): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2136): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03239.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0010a0001c0011 | a0001c0002t0002a0001c0010t0002a0001c0011t0016 | a0001c0002t0002g0040 a0001c0010t0002g0014 a0001c0011t0016g0019 |
3 | 21 | 0.1429 | 2143 | c.371 others(2162): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(2136): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0180 | 1 | 124 | 0.0081 | 2143 | c.*65 others(2154): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2136): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 249 | 0.0040 | 2143 | c.-11 others(2154): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2136): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022 | a0001c0001t0017g0052 a0001c0001t0022g0014 |
2 | 16 | 0.1250 | 2143 | c.61+ others(2162): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OTOF_chr2_26452203_26483124 | 26481973 | A | AGGGGGGG others(2136): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 328 | 0.0030 | 2143 | c.-41 others(2154): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 3850 | chr2 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2136): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(2): Show | a0001c0001t0001g0244 a0001c0001t0009g0243 a0001c0001t0009g0255 others(3): Show |
6 | 229 | 0.0262 | 2143 | c.*39 others(2154): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467254 | A | AGGGAGGA others(2136): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0032 | a0032c0041 | a0032c0041t0015 | a0032c0041t0015g0019 | 1 | 252 | 0.0040 | 2143 | c.*87 others(2152): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 745 | chrX | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2137): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0035 | 1 | 52 | 0.0192 | 2144 | c.56- others(2157): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2137): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0005 | a0005c0007 | a0005c0007t0017 | a0005c0007t0017g0031 | 1 | 19 | 0.0526 | 2144 | c.371 others(2163): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2137): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 HG02293.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0246 |
3 | 160 | 0.0188 | 2144 | c.126 others(2161): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2137): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0263 | 1 | 158 | 0.0063 | 2144 | c.126 others(2161): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2137): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0029 | a0006c0029t0029 | a0006c0029t0029g0093 | 1 | 3 | 0.3333 | 2144 | c.219 others(2163): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2137): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 4 | 0.2500 | 2144 | c.972 others(2157): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |