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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM120B_chr6_170301758_170412067 | 170398553 | A | AAAGGTAG others(8344): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0255 | 1 | 273 | 0.0037 | 8351 | c.269 others(8370): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298761 | C | CGTGGACA others(8348): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0015 | 1 | 73 | 0.0137 | 8355 | c.734 others(8370): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(8379): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 3 | 0.3333 | 8386 | c.-34 others(8401): 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(8379): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 3 | 0.3333 | 8386 | c.-34 others(8401): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432119 | T | TTAGGGTG others(8379): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 111 | 0.0090 | 8386 | c.101 others(8403): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(8383): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 173 | 0.0058 | 8390 | c.127 others(8407): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1332806 | C | CTTTTTTT others(8392): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 39 | 0.0256 | 8399 | c.-41 others(8410): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 3978 | chrX | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948252 | G | GTGGTGGT others(8394): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0105 | 1 | 124 | 0.0081 | 8401 | c.47- others(8418): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8406): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 5 | 0.2000 | 8413 | c.824 others(8426): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 412610 | G | GGTGCCCA others(8407): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 115 | 0.0087 | 8414 | c.-15 others(8433): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(8409): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0154 | 1 | 37 | 0.0270 | 8416 | c.327 others(8433): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(8409): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0155 | 1 | 37 | 0.0270 | 8416 | c.327 others(8433): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161957 | C | CCCCACAC others(8411): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 374 | 0.0027 | 8418 | c.-80 others(8427): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 749 | chr11 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8412): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 5 | 0.2000 | 8419 | c.824 others(8432): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8412): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 5 | 0.2000 | 8419 | c.824 others(8432): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8412): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 5 | 0.2000 | 8419 | c.824 others(8432): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8413): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 5 | 0.2000 | 8420 | c.824 others(8433): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8414): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 5 | 0.2000 | 8421 | c.824 others(8434): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8414): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20129.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0256 a0002c0002t0001g0258 |
2 | 6 | 0.3333 | 8421 | c.824 others(8434): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8414): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 5 | 0.2000 | 8421 | c.824 others(8434): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8414): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 5 | 0.2000 | 8421 | c.824 others(8434): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 5 | 0.2000 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 5 | 0.2000 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0082 |
2 | 6 | 0.3333 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0255 | 1 | 5 | 0.2000 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 5 | 0.2000 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 5 | 0.2000 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8415): Show |
intron_variant | MODIFIER | HG03453.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0223 |
2 | 6 | 0.3333 | 8422 | c.824 others(8435): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8416): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 5 | 0.2000 | 8423 | c.824 others(8436): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8416): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257 | 1 | 5 | 0.2000 | 8423 | c.824 others(8436): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8416): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 5 | 0.2000 | 8423 | c.824 others(8436): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8416): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 5 | 0.2000 | 8423 | c.824 others(8436): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8417): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0196 |
2 | 6 | 0.3333 | 8424 | c.824 others(8437): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8417): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 5 | 0.2000 | 8424 | c.824 others(8437): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8418): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 5 | 0.2000 | 8425 | c.824 others(8438): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8418): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 5 | 0.2000 | 8425 | c.824 others(8438): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8418): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 5 | 0.2000 | 8425 | c.824 others(8438): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8418): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 5 | 0.2000 | 8425 | c.824 others(8438): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8418): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 5 | 0.2000 | 8425 | c.824 others(8438): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8418): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 5 | 0.2000 | 8425 | c.824 others(8438): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 5 | 0.2000 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 a0001c0001t0001g0307 |
2 | 6 | 0.3333 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 5 | 0.2000 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 5 | 0.2000 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 5 | 0.2000 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 5 | 0.2000 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8419): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 5 | 0.2000 | 8426 | c.824 others(8439): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8420): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 5 | 0.2000 | 8427 | c.824 others(8440): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8420): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 5 | 0.2000 | 8427 | c.824 others(8440): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171976066 | C | CAGCTGGG others(8420): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01934.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0272 a0001c0001t0001g0288 others(10): Show |
13 | 17 | 0.7647 | 8427 | c.824 others(8440): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |