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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
YBEY_chr21_46281342_46302751 | 46293786 | A | ATGCCCGG others(215): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 404 | 0.0025 | 222 | c.339 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293786 | A | ATGCCCGG others(215): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 404 | 0.0025 | 222 | c.339 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293814 | G | GCAAGTTA others(215): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293946 | C | CAGTGGAA others(215): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293954 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293954 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0340 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293954 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 a0001c0001t0002g0311 |
2 | 404 | 0.0050 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293970 | G | AACTCTAG others(215): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 404 | 0.0050 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293970 | G | GACTCTAG others(215): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0356 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293970 | G | GACTCTAG others(215): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294082 | G | GTGCCCGG others(215): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294082 | G | GTGCCCGG others(215): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294084 | G | GCCCGGGA others(215): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294102 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294110 | A | ACAAGTTA others(215): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294110 | A | ACAAGTTA others(215): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0348 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294156 | G | GTGCCCGG others(215): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294176 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294176 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294176 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18981.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 a0001c0001t0002g0303 a0001c0001t0002g0351 |
3 | 404 | 0.0074 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294266 | G | GACTCTAG others(215): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294332 | G | GCAAGTTA others(215): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0317 |
2 | 404 | 0.0050 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294452 | G | GTGCCCGG others(215): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(215): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 a0001c0001t0003g0227 |
2 | 404 | 0.0050 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294480 | G | GCAAGTTA others(215): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294480 | G | GCAAGTTA others(215): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02896.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0212 |
3 | 404 | 0.0074 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294546 | T | TCAGCCAC others(215): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACAC others(215): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGAAT others(215): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(215): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(215): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(215): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(215): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(215): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02129.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0113 |
3 | 404 | 0.0074 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(215): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 404 | 0.0025 | 222 | c.340 others(239): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZC3H18_chr16_88565403_88636964 | 88615028 | A | AGGCTGCC others(215): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 378 | 0.0027 | 222 | c.147 others(241): Show |
ZC3H18 | ENSG00000158545.16 | transcript | ENST00000301011.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZC3H18_chr16_88565403_88636964 | 88615028 | A | AGGCTGCC others(215): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(91): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0024a0003c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0202 others(89): Show |
94 | 378 | 0.2487 | 222 | c.147 others(241): Show |
ZC3H18 | ENSG00000158545.16 | transcript | ENST00000301011.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF182_chrX_47969851_48008989 | 47971480 | T | TGTATACG others(215): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG02258.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0028 |
4 | 270 | 0.0148 | 222 | c.*46 others(233): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 3370 | chrX | TogoVar | |||||||
ZNF182_chrX_47969851_48008989 | 47971510 | T | TGTATACG others(215): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 270 | 0.0037 | 222 | c.*46 others(233): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 3340 | chrX | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62371309 | C | CATATATC others(215): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 350 | 0.0057 | 222 | c.-31 others(233): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3059 | chr10 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56237966 | G | GACACACG others(215): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 362 | 0.0028 | 222 | c.-12 others(243): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56237966 | G | GACACACG others(215): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0050 others(56): Show |
59 | 362 | 0.1630 | 222 | c.-12 others(243): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140641 | A | ACCGTGGG others(216): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 368 | 0.0027 | 223 | c.56- others(238): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77367790 | T | TATGTTAT others(216): Show |
intron_variant | MODIFIER | NA18965.hp2 NA18984.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0258 a0001c0003t0001g0250 |
2 | 284 | 0.0070 | 223 | c.891 others(242): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690353 | T | TCCCCCTC others(216): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0177 | 1 | 274 | 0.0037 | 223 | c.512 others(240): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99139343 | T | TTCCCTCC others(216): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0031 | 1 | 48 | 0.0208 | 223 | c.252 others(244): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1840286 | C | CTGCTGTG others(216): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02717.hp1 HG02818.hp2 others(4): Show |
a0001a0011 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0026a0001c0003t0026a0001c0009t0058others(4): Show | a0001c0002t0026g0192 a0001c0003t0026g0190 a0001c0009t0058g0200 others(4): Show |
7 | 363 | 0.0193 | 223 | c.-47 others(240): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1873654 | G | GCCGCGGG others(216): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0043 | a0001c0043t0002 | a0001c0043t0002g0153 | 1 | 363 | 0.0028 | 223 | c.680 others(240): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(216): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 264 | 0.0038 | 223 | c.102 others(240): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |