regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2130): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0000 | a0000c0005 | a0000c0005t0033 | a0000c0005t0033g0124 | 1 | 418 | 0.0024 | 2137 | c.341 others(2154): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2131): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0007 | a0007c0008 | a0007c0008t0024 | a0007c0008t0024g0059 | 1 | 218 | 0.0046 | 2138 | c.108 others(2155): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2131): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0074 | a0003c0074t0002 | a0003c0074t0002g0239 | 1 | 292 | 0.0034 | 2138 | c.228 others(2155): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2131): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0073 | a0003c0073t0002 | a0003c0073t0002g0232 | 1 | 292 | 0.0034 | 2138 | c.228 others(2155): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2131): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0005 | a0002c0005t0015 | a0002c0005t0015g0071 | 1 | 369 | 0.0027 | 2138 | c.-49 others(2149): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2131): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0275 | 1 | 369 | 0.0027 | 2138 | c.-49 others(2149): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2131): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0000 | a0000c0005 | a0000c0005t0012 | a0000c0005t0012g0122 | 1 | 418 | 0.0024 | 2138 | c.341 others(2155): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2132): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 298 | 0.0034 | 2139 | c.955 others(2156): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1431959 | C | CGGGGTCT others(2132): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 360 | 0.0028 | 2139 | c.92- others(2154): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33323275 | G | GAATATAT others(2132): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 1 | 323 | 0.0031 | 2139 | c.-17 others(2150): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1694 | chr21 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2132): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0234a0001c0001t0001g0235 | 3 | 375 | 0.0080 | 2139 | c.-19 others(2150): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2132): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2139 | c.*44 others(2150): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 303955 | A | ATGGGGAG others(2132): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 133 | 0.0075 | 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 | 133 | 0.0075 | 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 | 344 | 0.0029 | 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 | a0001c0002t0001g0082 | 1 | 356 | 0.0028 | 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 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0027 | 1 | 104 | 0.0096 | 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 | a0037 | a0037c0008 | a0037c0008t0001 | a0037c0008t0001g0005 | 1 | 104 | 0.0096 | 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 | 104 | 0.0096 | 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 | 175 | 0.0057 | 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 | 301 | 0.0033 | 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 | 375 | 0.0027 | 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 | 228 | 0.0044 | 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 | a0022 | a0022c0027 | a0022c0027t0033 | a0022c0027t0033g0060 | 1 | 218 | 0.0046 | 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 | 334 | 0.0060 | 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 | a0001c0003t0002g0171 | 1 | 184 | 0.0054 | 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 | 104 | 0.0096 | 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 | a0034 | a0034c0032 | a0034c0032t0001 | a0034c0032t0001g0083 | 1 | 104 | 0.0096 | 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 |
a0025a0028a0046 | a0025c0024a0028c0049a0046c0065 | a0025c0024t0001a0028c0049t0001a0046c0065t0002 | a0025c0024t0001g0046a0028c0049t0001g0086a0046c0065t0002g0101 | 3 | 104 | 0.0289 | 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 | a0001c0001t0004g0274 | 1 | 364 | 0.0028 | 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 | a0001c0001t0074 | a0001c0001t0074g0133 | 1 | 302 | 0.0033 | 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 | 432 | 0.0023 | 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 | 375 | 0.0027 | 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 | 334 | 0.0030 | 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 | 334 | 0.0030 | 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 | 72 | 0.0139 | 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 | 104 | 0.0096 | 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 | a0031 | a0031c0022 | a0031c0022t0004 | a0031c0022t0004g0039 | 1 | 104 | 0.0096 | 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 | 158 | 0.0063 | 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 | a0002c0005t0005g0130 | 1 | 158 | 0.0063 | 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 | a0008 | a0008c0027 | a0008c0027t0002 | a0008c0027t0002g0223 | 1 | 274 | 0.0037 | 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 | a0001c0001t0018g0266 | 1 | 292 | 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 | 375 | 0.0027 | 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 | a0003c0007t0002g0138 | 1 | 376 | 0.0027 | 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 | 198 | 0.0051 | 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 | a0001c0001t0003g0009 | 1 | 404 | 0.0025 | 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 | 218 | 0.0046 | 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 | 210 | 0.0048 | 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 | a0001c0001t0002g0083 | 1 | 288 | 0.0035 | 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 | a0001c0002t0002g0040a0001c0010t0002g0014a0001c0011t0016g0019 | 3 | 40 | 0.0750 | 2143 | c.371 others(2162): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |