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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2564): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02683.hp1 HG03017.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0122 a0001c0001t0003g0157 others(4): Show |
7 | 371 | 0.0189 | 2571 | c.-47 others(2582): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(2565): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 338 | 0.0030 | 2572 | c.300 others(2589): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(2565): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0026 | a0026c0018 | a0026c0018t0018 | a0026c0018t0018g0292 | 1 | 308 | 0.0033 | 2572 | c.157 others(2589): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2565): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 346 | 0.0029 | 2572 | c.-17 others(2583): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
LSS_chr21_46183446_46233774 | 46184617 | C | CCAACCCA others(2565): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01346.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 a0002c0002t0002g0086 |
3 | 358 | 0.0084 | 2572 | c.*64 others(2583): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3828 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46184617 | C | CCAACCCA others(2565): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 a0001c0001t0006g0062 a0001c0001t0006g0063 others(1): Show |
5 | 251 | 0.0199 | 2572 | c.-12 others(2583): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 159 | chr21 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2565): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 371 | 0.0027 | 2572 | c.-47 others(2583): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2565): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 a0001c0001t0003g0173 |
2 | 371 | 0.0054 | 2572 | c.-47 others(2583): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2566): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0197 | 1 | 298 | 0.0034 | 2573 | c.955 others(2590): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49425160 | T | TAAAAAAG others(2566): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 324 | 0.0031 | 2573 | c.-32 others(2590): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634578 | C | CCCTTCCT others(2566): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 250 | 0.0040 | 2573 | c.105 others(2590): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2566): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0008 | a0008c0040 | a0008c0040t0012 | a0008c0040t0012g0025 | 1 | 125 | 0.0080 | 2573 | c.219 others(2592): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2566): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0296 | 1 | 371 | 0.0027 | 2573 | c.-47 others(2584): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2566): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 a0001c0001t0003g0290 a0001c0001t0003g0291 others(1): Show |
4 | 371 | 0.0108 | 2573 | c.-47 others(2584): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49425160 | T | TAAAAAAG others(2567): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0102 | 1 | 324 | 0.0031 | 2574 | c.-32 others(2591): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49425160 | T | TAAAAAAG others(2567): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 a0001c0001t0004g0101 |
2 | 324 | 0.0062 | 2574 | c.-32 others(2591): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2567): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 316 | 0.0032 | 2574 | c.44- others(2587): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2567): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0272 | 1 | 290 | 0.0035 | 2574 | c.162 others(2593): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2567): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0145 | 1 | 290 | 0.0035 | 2574 | c.162 others(2593): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876935 | T | TAGGGAGG others(2567): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0265 | 1 | 274 | 0.0037 | 2574 | c.224 others(2593): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2567): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0147 | 1 | 295 | 0.0034 | 2574 | c.715 others(2591): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744713 | T | TAGCACTG others(2567): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0035 | a0001c0035t0010 | a0001c0035t0010g0063 | 1 | 196 | 0.0051 | 2574 | c.655 others(2591): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TLCD3A_chr17_727596_747968 | 727953 | C | CGGGATAA others(2567): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 NA19087.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0013 |
3 | 396 | 0.0076 | 2574 | c.-46 others(2585): Show |
TLCD3A | ENSG00000167695.15 | transcript | ENST00000308278.13 | protein_coding | 4642 | chr17 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2567): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 371 | 0.0027 | 2574 | c.-47 others(2585): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2567): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 371 | 0.0027 | 2574 | c.-47 others(2585): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111326242 | G | GTGGGGGA others(2568): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 100 | 0.0100 | 2575 | c.292 others(2594): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2568): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0273 a0001c0001t0010g0275 |
2 | 290 | 0.0069 | 2575 | c.162 others(2594): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2568): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0274 | 1 | 290 | 0.0035 | 2575 | c.162 others(2594): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
FBXO34_chr14_55266421_55358611 | 55276507 | T | TAGAAAAA others(2568): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0124 | 1 | 334 | 0.0030 | 2575 | c.-11 others(2592): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGA others(2568): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 308 | 0.0033 | 2575 | c.157 others(2592): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2568): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 371 | 0.0027 | 2575 | c.-47 others(2586): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2569): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 316 | 0.0032 | 2576 | c.44- others(2589): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2569): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 316 | 0.0032 | 2576 | c.44- others(2589): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2569): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 260 | 0.0039 | 2576 | c.624 others(2593): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133778 | T | TCTCCACC others(2569): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 227 | 0.0044 | 2576 | c.*23 others(2587): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2066 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(2569): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0049 | a0001c0049t0001 | a0001c0049t0001g0040 | 1 | 214 | 0.0047 | 2576 | c.206 others(2595): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2569): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0169 | 1 | 264 | 0.0038 | 2576 | c.742 others(2593): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2569): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 452 | 0.0022 | 2576 | c.*28 others(2587): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2569): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 452 | 0.0022 | 2576 | c.*28 others(2587): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2569): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 452 | 0.0022 | 2576 | c.*28 others(2587): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2569): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 a0001c0001t0003g0292 a0001c0001t0003g0331 |
3 | 371 | 0.0081 | 2576 | c.-47 others(2587): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2569): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 371 | 0.0027 | 2576 | c.-47 others(2587): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2570): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 334 | 0.0030 | 2577 | c.147 others(2594): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6831384 | T | TATTTATT others(2570): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0069 | a0003c0069t0001 | a0003c0069t0001g0130 | 1 | 266 | 0.0038 | 2577 | c.435 others(2596): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 4/21 | chr9 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2570): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0133 | 1 | 322 | 0.0031 | 2577 | c.178 others(2594): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2570): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 452 | 0.0022 | 2577 | c.*28 others(2588): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2570): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 452 | 0.0022 | 2577 | c.*28 others(2588): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
WFDC13_chr20_45697038_45713817 | 45710730 | T | TAAAAGAA others(2570): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02004.hp1 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 4 | 452 | 0.0089 | 2577 | c.*28 others(2588): Show |
WFDC13 | ENSG00000168634.5 | transcript | ENST00000305479.3 | protein_coding | 1914 | chr20 | TogoVar | |||||||
ZNF236_chr18_76817557_76977901 | 76916560 | T | TTGTGCTT others(2570): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0132 | 1 | 346 | 0.0029 | 2577 | c.327 others(2594): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2570): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 371 | 0.0027 | 2577 | c.-47 others(2588): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar |