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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF10_chr1_146059711_146149804 | 146109444 | C | CATACAGG others(5059): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0008 | a0008c0006 | a0008c0006t0002 | a0008c0006t0002g0008 | 2 | 282 | 0.0071 | 5066 | c.449 others(5083): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5060): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 2 | 0.5000 | 5067 | c.287 others(5086): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5060): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 3 | 0.3333 | 5067 | c.-34 others(5082): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5061): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 3 | 0.3333 | 5068 | c.-34 others(5083): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5064): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 55 | 0.0182 | 5071 | c.891 others(5086): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5065): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 2 | 0.5000 | 5072 | c.287 others(5091): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5065): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0006 | 1 | 2 | 0.5000 | 5072 | c.287 others(5091): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(5065): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 64 | 0.0156 | 5072 | c.179 others(5091): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5066): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 55 | 0.0182 | 5073 | c.891 others(5088): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(5066): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 HG02965.hp1 HG03516.hp1 |
a0001a0003 | a0001c0034a0003c0165 | a0001c0034t0002a0003c0165t0002 | a0001c0034t0002g0043 a0003c0165t0002g0172 |
3 | 4 | 0.7500 | 5073 | c.481 others(5082): Show |
p.Ser others(5088): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | |||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 154 | 0.0065 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18986.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | 156 | 0.0192 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 154 | 0.0065 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 154 | 0.0065 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 154 | 0.0065 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 154 | 0.0065 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5067): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0046 | 1 | 154 | 0.0065 | 5074 | c.136 others(5091): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5067): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 3 | 0.3333 | 5074 | c.-34 others(5089): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5070): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0144 | 1 | 8 | 0.1250 | 5077 | c.-45 others(5086): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(5072): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0049 | 1 | 335 | 0.0030 | 5079 | c.-15 others(5090): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146104635 | C | CACACACA others(5073): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0013 | a0013c0089 | a0013c0089t0002 | a0013c0089t0002g0118 | 1 | 173 | 0.0058 | 5080 | c.523 others(5097): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/89 | chr1 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5074): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 8 | 0.1250 | 5081 | c.-45 others(5090): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5074): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 3 | 0.3333 | 5081 | c.-34 others(5096): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111534 | A | ACCAGACC others(5075): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0272 | 1 | 274 | 0.0036 | 5082 | c.401 others(5099): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACAG others(5076): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0278 | 1 | 180 | 0.0056 | 5083 | c.401 others(5100): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5076): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 8 | 0.1250 | 5083 | c.-45 others(5092): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ZNF718_chr4_119501_169162 | 152956 | G | GTACTTTG others(5076): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0190 | 1 | 250 | 0.0040 | 5083 | c.227 others(5100): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146109343 | C | CACACACA others(5077): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0044 | a0044c0094 | a0044c0094t0002 | a0044c0094t0002g0119 | 1 | 181 | 0.0055 | 5084 | c.450 others(5101): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716132 | T | TTGGTGTC others(5086): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 111 | 0.0090 | 5093 | c.86- others(5106): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | AGGGAAGG others(5086): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0284 | 1 | 330 | 0.0030 | 5093 | c.115 others(5110): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5087): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0036 | a0036c0050 | a0036c0050t0001 | a0036c0050t0001g0053 | 1 | 34 | 0.0294 | 5094 | c.299 others(5109): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744631 | C | CCCTGGTT others(5087): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0032 | a0001c0032t0033 | a0001c0032t0033g0039 | 1 | 158 | 0.0063 | 5094 | c.655 others(5111): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5088): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0011 | 1 | 2 | 0.5000 | 5095 | c.287 others(5114): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(5089): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 259 | 0.0039 | 5096 | c.129 others(5115): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(5089): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 256 | 0.0039 | 5096 | c.129 others(5113): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(5089): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 216 | 0.0046 | 5096 | c.129 others(5113): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5089): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 8 | 0.1250 | 5096 | c.-45 others(5105): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5089): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0318 | 1 | 307 | 0.0033 | 5096 | c.327 others(5113): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5090): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0012 | a0003c0012t0005 | a0003c0012t0005g0004 | 1 | 2 | 0.5000 | 5097 | c.287 others(5116): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5090): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 307 | 0.0033 | 5097 | c.327 others(5114): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5091): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0035 | 1 | 2 | 0.5000 | 5098 | c.287 others(5117): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(5091): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0041 | 1 | 2 | 0.5000 | 5098 | c.125 others(5115): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(5092): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 112 | 0.0089 | 5099 | c.719 others(5118): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644370 | T | CGTGACAC others(5093): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0315 | 1 | 228 | 0.0044 | 5100 | c.225 others(5117): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251150 | A | ACACCACA others(5094): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 87 | 0.0115 | 5101 | c.207 others(5120): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGA others(5095): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 264 | 0.0038 | 5102 | c.157 others(5119): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5096): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 | 1 | 2 | 0.5000 | 5103 | c.287 others(5122): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294636 | G | GACTCTAG others(5096): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 302 | 0.0033 | 5103 | c.340 others(5120): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294628 | G | GCAAGTTA others(5097): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 340 | 0.0029 | 5104 | c.340 others(5121): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(5098): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 241 | 0.0041 | 5105 | c.127 others(5122): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |