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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KREMEN1_chr22_29068035_29151820 | 29120161 | A | AGGAAACA others(4886): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0326 | 1 | 244 | 0.0041 | 4893 | c.353 others(4910): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73797383 | A | AAAAAAAA others(4887): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0002 a0001c0014t0001g0002 |
2 | 208 | 0.0096 | 4894 | c.97+ others(4911): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4887): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0169 | 1 | 8 | 0.1250 | 4894 | c.-45 others(4903): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4888): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01257.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0145 a0001c0001t0002g0130 a0001c0001t0003g0077 |
3 | 273 | 0.0110 | 4895 | c.118 others(4914): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105240373 | T | TGTGGCAC others(4889): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0001 | 1 | 63 | 0.0159 | 4896 | c.694 others(4911): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251277 | C | CCACATCC others(4889): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 68 | 0.0147 | 4896 | c.207 others(4915): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4889): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0148 | 1 | 8 | 0.1250 | 4896 | c.-45 others(4905): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(4889): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0085 | 1 | 325 | 0.0031 | 4896 | c.101 others(4913): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(4890): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 154 | 0.0065 | 4897 | c.136 others(4914): 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(4890): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 154 | 0.0065 | 4897 | c.136 others(4914): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73791037 | G | GAGGCTGA others(4890): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 194 | 0.0052 | 4897 | c.97+ others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73798954 | A | ACAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 210 | 0.0048 | 4897 | c.98- others(4914): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73799046 | T | TCGTCTCT others(4890): Show |
intron_variant | MODIFIER | HG02559.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 |
2 | 210 | 0.0095 | 4897 | c.98- others(4914): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 97 | 0.0103 | 4897 | c.98- others(4914): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
2 | 98 | 0.0204 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01346.hp1 HG01952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(2): Show |
6 | 102 | 0.0588 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4890): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 98 | 0.0204 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73803125 | G | GCGGGCGG others(4890): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 210 | 0.0048 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73804107 | T | TTATTGAA others(4890): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 210 | 0.0048 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73804131 | C | CTCATTTC others(4890): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 210 | 0.0048 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73804819 | G | GAGACTGC others(4890): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 210 | 0.0048 | 4897 | c.98- others(4912): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065180 | G | GCTGTTGT others(4891): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0225 a0001c0001t0005g0298 a0001c0001t0009g0031 others(1): Show |
4 | 231 | 0.0173 | 4898 | c.118 others(4917): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73797971 | G | GGGGTTAA others(4891): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 209 | 0.0048 | 4898 | c.97+ others(4915): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73800792 | C | CGGGGTGC others(4891): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 208 | 0.0048 | 4898 | c.98- others(4915): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73803025 | G | GAAAGGGG others(4891): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 97 | 0.0103 | 4898 | c.98- others(4913): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4891): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 55 | 0.0182 | 4898 | c.891 others(4913): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4891): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 55 | 0.0182 | 4898 | c.891 others(4913): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4891): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0082 |
2 | 56 | 0.0357 | 4898 | c.891 others(4913): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4892): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 55 | 0.0182 | 4899 | c.891 others(4914): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(4892): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 192 | 0.0052 | 4899 | c.215 others(4916): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4892): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0230 | 1 | 13 | 0.0769 | 4899 | c.215 others(4916): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73787586 | C | CAAAAAAA others(4893): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 108 | 0.0093 | 4900 | c.97+ others(4915): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4893): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 3 | 0.3333 | 4900 | c.-34 others(4915): 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(4894): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 55 | 0.0182 | 4901 | c.891 others(4916): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4894): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 55 | 0.0182 | 4901 | c.891 others(4916): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(4897): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18942.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0002t0002g0229 |
3 | 243 | 0.0123 | 4904 | c.127 others(4921): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(4897): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 173 | 0.0058 | 4904 | c.127 others(4921): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184976 | T | TCCCCTTC others(4897): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0069 | a0002c0069t0002 | a0002c0069t0002g0086 | 1 | 142 | 0.0070 | 4904 | c.193 others(4923): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533470 | T | TCCCTCCC others(4898): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0037 | 1 | 68 | 0.0147 | 4905 | c.*27 others(4914): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 147 | chrX | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4900): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 8 | 0.1250 | 4907 | c.-45 others(4916): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4901): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0109 | 1 | 30 | 0.0333 | 4908 | c.*19 others(4919): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407129 | T | TCGATTCC others(4901): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 40 | 0.0250 | 4908 | c.296 others(4925): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4903): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0163 | 1 | 30 | 0.0333 | 4910 | c.*19 others(4921): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 315147 | G | GACCTGTA others(4904): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 84 | 0.0119 | 4911 | c.351 others(4928): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGA others(4905): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 264 | 0.0038 | 4912 | c.157 others(4929): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HBG2_chr11_5248188_5259781 | 5248767 | C | CACACACA others(4905): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 428 | 0.0023 | 4912 | c.*45 others(4923): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 4420 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654618 | A | GTCCTCAC others(4906): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 292 | 0.0034 | 4913 | c.-52 others(4930): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654618 | A | GTCCTCAC others(4906): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 292 | 0.0034 | 4913 | c.-52 others(4930): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654618 | A | GTCCTCAC others(4906): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 292 | 0.0034 | 4913 | c.-52 others(4930): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(4907): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0096 | 1 | 30 | 0.0333 | 4914 | c.*19 others(4925): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar |