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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2C_chr10_269201_694668 | 478078 | G | GGAAGGGA others(1683): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0041 | 1 | 88 | 0.0114 | 1690 | c.158 others(1707): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947779 | A | ATGGTGGT others(1683): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0049 | a0001c0049t0002 | a0001c0049t0002g0017 | 1 | 136 | 0.0074 | 1690 | c.47- others(1707): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634897 | T | TCCCTTCC others(1683): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 250 | 0.0040 | 1690 | c.105 others(1707): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
LRRC52_chr1_165539000_165568957 | 165562673 | T | TCCAGAGC others(1683): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 350 | 0.0029 | 1690 | c.623 others(1705): Show |
LRRC52 | ENSG00000162763.4 | transcript | ENST00000294818.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1683): Show |
intron_variant | MODIFIER | HG01993.hp2 NA19240.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0172 |
3 | 174 | 0.0172 | 1690 | c.189 others(1709): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1683): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 174 | 0.0058 | 1690 | c.189 others(1709): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC39A9_chr14_69393692_69467390 | 69395207 | A | AGGGGGGG others(1683): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 326 | 0.0031 | 1690 | c.-41 others(1701): Show |
SLC39A9 | ENSG00000029364.12 | transcript | ENST00000336643.10 | protein_coding | 3484 | chr14 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029340 | A | ACCCCATC others(1683): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 224 | 0.0045 | 1690 | c.225 others(1709): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1683): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 338 | 0.0030 | 1690 | c.*35 others(1709): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803214 | T | TGGGGGCC others(1684): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 398 | 0.0025 | 1691 | c.666 others(1706): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50018654 | T | TATTTTTT others(1684): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 175 | 0.0057 | 1691 | c.17- others(1708): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716505 | G | GTTGGTGT others(1684): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 170 | 0.0059 | 1691 | c.86- others(1704): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TATGGAAT others(1684): Show |
upstream_gene_variant | MODIFIER | NA19006.hp2 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 2 | 323 | 0.0062 | 1691 | c.-21 others(1702): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1684): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 402 | 0.0025 | 1691 | c.292 others(1710): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1684): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 402 | 0.0025 | 1691 | c.292 others(1710): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803214 | T | TGGGGGCC others(1684): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0004 | 1 | 330 | 0.0030 | 1691 | c.-49 others(1702): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4733 | chr9 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1684): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0109 | 1 | 214 | 0.0047 | 1691 | c.206 others(1710): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418315 | C | CTTCCCTC others(1684): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0005 | a0005c0030 | a0005c0030t0002 | a0005c0030t0002g0080 | 1 | 114 | 0.0088 | 1691 | c.215 others(1708): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461184 | T | TCTGGACT others(1685): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0228 | 1 | 342 | 0.0029 | 1692 | c.577 others(1707): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1685): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02523.hp2 |
a0002a0040 | a0002c0032a0040c0035 | a0002c0032t0003a0040c0035t0001 | a0002c0032t0003g0232 a0040c0035t0001g0178 |
2 | 332 | 0.0060 | 1692 | c.179 others(1707): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426091 | T | TGGTGATA others(1685): Show |
intron_variant | MODIFIER | NA18963.hp1 NA19083.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0286 a0002c0004t0003g0290 |
2 | 332 | 0.0060 | 1692 | c.179 others(1707): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802876 | G | GGGGGCCC others(1685): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 398 | 0.0025 | 1692 | c.666 others(1707): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(1685): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 96 | 0.0104 | 1692 | c.-16 others(1713): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876865 | G | GGGAGGTT others(1685): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0023 | a0023c0041 | a0023c0041t0001 | a0023c0041t0001g0135 | 1 | 274 | 0.0037 | 1692 | c.224 others(1711): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877036 | G | GGGAAGTT others(1685): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0035 | a0035c0048 | a0035c0048t0001 | a0035c0048t0001g0054 | 1 | 274 | 0.0037 | 1692 | c.224 others(1711): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646101 | C | CCCTCTCC others(1685): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0016 | 1 | 180 | 0.0056 | 1692 | c.-35 others(1713): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646430 | T | TCCACCTC others(1685): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0165 | 1 | 180 | 0.0056 | 1692 | c.-35 others(1713): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1685): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0223 | 1 | 376 | 0.0027 | 1692 | c.101 others(1711): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432075 | C | CAGGGTGG others(1685): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0217 | 1 | 376 | 0.0027 | 1692 | c.101 others(1709): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(1685): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 376 | 0.0027 | 1692 | c.101 others(1709): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1685): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 258 | 0.0039 | 1692 | c.113 others(1711): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1685): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 167 | 0.0060 | 1692 | c.*53 others(1703): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(1685): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 404 | 0.0025 | 1692 | c.340 others(1709): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(1686): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 58 | 0.0172 | 1693 | c.234 others(1714): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1686): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 240 | 0.0042 | 1693 | c.*31 others(1704): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1686): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0004 | a0002c0004t0073 | a0002c0004t0073g0025 | 1 | 118 | 0.0085 | 1693 | c.366 others(1712): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1686): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0107 | 1 | 168 | 0.0060 | 1693 | c.338 others(1712): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1686): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0006 | a0006c0048 | a0006c0048t0001 | a0006c0048t0001g0043 | 1 | 168 | 0.0060 | 1693 | c.338 others(1712): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1686): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 375 | 0.0027 | 1693 | c.-19 others(1704): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1686): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0152 | 1 | 188 | 0.0053 | 1693 | c.147 others(1710): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1686): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 356 | 0.0028 | 1693 | c.114 others(1710): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1687): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 391 | 0.0026 | 1694 | c.*36 others(1705): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1687): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 391 | 0.0026 | 1694 | c.*36 others(1705): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 421827 | C | CACATAGC others(1687): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0327 | 1 | 432 | 0.0023 | 1694 | c.413 others(1711): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1687): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 152 | 0.0066 | 1694 | c.289 others(1713): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1687): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0093 | 1 | 152 | 0.0066 | 1694 | c.289 others(1713): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1687): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0123 | 1 | 168 | 0.0060 | 1694 | c.338 others(1713): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1687): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0150 | 1 | 168 | 0.0060 | 1694 | c.338 others(1713): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(1687): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0019 | a0019c0034 | a0019c0034t0001 | a0019c0034t0001g0023 | 1 | 174 | 0.0058 | 1694 | c.193 others(1713): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1687): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 NA19091.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0132 |
3 | 330 | 0.0091 | 1694 | c.297 others(1711): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar |