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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSTM2_chr1_109663057_109680286 | 109678230 | T | TGCCTCCT others(25): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 354 | 0.0028 | 32 | c.*33 others(43): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 2945 | chr1 | TogoVar | |||||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0231 | 1 | 128 | 0.0078 | 32 | c.469 others(49): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 62 | 0.0161 | 32 | c.305 others(51): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 62 | 0.0161 | 32 | c.305 others(51): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 62 | 0.0161 | 32 | c.305 others(51): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45191255 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 205 | 0.0049 | 32 | c.305 others(51): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45212446 | T | TTCTTGTT others(25): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 206 | 0.0049 | 32 | c.386 others(49): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45228283 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03490.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0084 a0001c0001t0001g0087 others(1): Show |
4 | 104 | 0.0385 | 32 | c.386 others(51): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158175022 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0145 | 1 | 382 | 0.0026 | 32 | c.35+ others(47): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158175044 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01934.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0150 others(9): Show |
13 | 231 | 0.0563 | 32 | c.35+ others(47): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158175044 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0068 | 1 | 219 | 0.0046 | 32 | c.35+ others(47): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158175044 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0100a0001c0001t0104 | a0001c0001t0011g0061 a0001c0001t0100g0186 a0001c0001t0104g0065 |
3 | 221 | 0.0136 | 32 | c.35+ others(47): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2I_chr7_74652718_74765692 | 74680099 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 123 | 0.0081 | 32 | c.-5- others(47): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF3C2_chr2_27320854_27361764 | 27358735 | C | CACCTCTC others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00597.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0062 a0001c0002t0001g0001 a0001c0002t0001g0005 others(46): Show |
63 | 194 | 0.3247 | 32 | c.-20 others(43): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 1972 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 50 | 0.0200 | 32 | c.111 others(49): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTPBP1_chr22_38700944_38738587 | 38731010 | T | TTGTGTGT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0132 | 1 | 73 | 0.0137 | 32 | c.*31 others(41): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 12/12 | 347 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 311185 | T | TTGTGTGG others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(76): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(16): Show | a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0042 others(68): Show |
79 | 153 | 0.5163 | 32 | c.112 others(49): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 311198 | T | TGAAGGCC others(25): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0075 | 1 | 72 | 0.0139 | 32 | c.112 others(49): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | |||||||
GUCA1A_chr6_42168364_42185056 | 42182828 | G | GCTTCCTT others(25): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0061 | 1 | 390 | 0.0026 | 32 | c.*34 others(43): Show |
GUCA1A | ENSG00000048545.18 | transcript | ENST00000372958.2 | protein_coding | 2773 | chr6 | TogoVar | |||||||
GUCA1B_chr6_42178284_42199956 | 42182828 | G | GCTTCCTT others(25): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0160 | 1 | 395 | 0.0025 | 32 | c.*19 others(43): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 455 | chr6 | TogoVar | |||||||
GUCA1B_chr6_42178284_42199956 | 42188902 | A | ATCTATCT others(25): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0009 | a0001c0002t0005g0024 a0001c0002t0005g0036 a0001c0002t0005g0107 others(1): Show |
7 | 343 | 0.0204 | 32 | c.208 others(47): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0036a0001c0002t0039others(1): Show | a0001c0001t0004g0121 a0001c0001t0036g0120 a0001c0002t0039g0215 others(1): Show |
4 | 102 | 0.0392 | 32 | c.199 others(53): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106909355 | C | CTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0073 | 1 | 19 | 0.0526 | 32 | c.120 others(53): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016 | a0001c0001t0009g0055 a0001c0001t0009g0056 a0001c0001t0016g0172 |
3 | 62 | 0.0484 | 32 | c.488 others(49): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
GXYLT1_chr12_42076845_42149874 | 42098760 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02083.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0197 a0001c0003t0001g0128 a0001c0003t0001g0130 others(1): Show |
4 | 24 | 0.1667 | 32 | c.865 others(47): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
GYPE_chr4_143865864_143910559 | 143883511 | T | TAATTTAT others(25): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 351 | 0.0028 | 32 | c.38- others(47): Show |
GYPE | ENSG00000197465.14 | transcript | ENST00000358615.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(25): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02027.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0029 |
3 | 179 | 0.0168 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(25): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG02523.hp1 NA19003.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0021 | a0001c0001t0001a0009c0021t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0065 others(1): Show |
4 | 180 | 0.0222 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(25): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG02922.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0002 a0002c0002t0001g0010 a0003c0004t0001g0011 |
4 | 180 | 0.0222 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(25): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01981.hp1 HG02083.hp1 others(8): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0005a0003c0004t0001 | a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0014 others(6): Show |
11 | 187 | 0.0588 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(25): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01346.hp2 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0025 a0001c0005t0001g0009 a0001c0005t0001g0058 others(4): Show |
14 | 190 | 0.0737 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTCCCT others(25): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0030 a0001c0005t0001g0009 |
3 | 179 | 0.0168 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129538525 | C | CCCTTCCT others(25): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 177 | 0.0056 | 32 | c.-46 others(43): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 4649 | chr3 | TogoVar | |||||||
H2AC4_chr6_26028092_26038618 | 26031152 | G | GTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 126 | 0.0079 | 32 | c.*20 others(43): Show |
H2AC4 | ENSG00000278463.2 | transcript | ENST00000615868.2 | protein_coding | 1939 | chr6 | TogoVar | |||||||
H3C2_chr6_26026589_26037099 | 26031152 | G | GTATATAT others(25): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 122 | 0.0082 | 32 | c.*49 others(41): Show |
H3C2 | ENSG00000286522.2 | transcript | ENST00000621411.3 | protein_coding | 436 | chr6 | TogoVar | |||||||
H3Y2_chr5_17485967_17497076 | 17493385 | C | CATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(62): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 others(1): Show |
65 | 86 | 0.7558 | 32 | c.-16 others(43): Show |
H3Y2 | ENSG00000268799.4 | transcript | ENST00000600799.3 | protein_coding | 1310 | chr5 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827821 | T | TTTTCTTT others(25): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 204 | 0.0049 | 32 | c.-48 others(43): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4835 | chr1 | TogoVar | |||||||
H4C2_chr6_26021896_26032283 | 26031152 | G | GTATATAT others(25): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 1 | 123 | 0.0081 | 32 | c.-39 others(43): Show |
H4C2 | ENSG00000278705.3 | transcript | ENST00000377745.5 | protein_coding | 3870 | chr6 | TogoVar | |||||||
H4C5_chr6_26199610_26210021 | 26208838 | A | AGAGAAAG others(25): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 406 | 0.0025 | 32 | c.*38 others(43): Show |
H4C5 | ENSG00000276966.3 | transcript | ENST00000615164.3 | protein_coding | 3818 | chr6 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592239 | T | TATACATA others(25): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 230 | 0.0043 | 32 | c.228 others(47): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592295 | C | CATACGTA others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 414 | 0.0024 | 32 | c.228 others(47): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592360 | A | ATGTATAC others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 426 | 0.0023 | 32 | c.228 others(47): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592371 | C | CAGACACA others(25): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 405 | 0.0025 | 32 | c.228 others(47): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26266871 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 157 | 0.0064 | 32 | c.210 others(49): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAO1_chr20_7877985_7945458 | 7909360 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 320 | 0.0031 | 32 | c.546 others(49): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7909383 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 |
3 | 194 | 0.0155 | 32 | c.546 others(49): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 3/7 | chr20 | TogoVar | |||||||
HAO1_chr20_7877985_7945458 | 7936503 | C | CGTGTGTG others(25): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 31 | 0.0323 | 32 | c.138 others(49): Show |
HAO1 | ENSG00000101323.5 | transcript | ENST00000378789.4 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
HAO2_chr1_119363785_119399130 | 119389146 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0067 | 1 | 408 | 0.0025 | 32 | c.771 others(49): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119389146 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp1 HG03098.hp1 others(3): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0002a0002c0006t0002 | a0002c0003t0002g0022 a0002c0003t0002g0061 a0002c0003t0002g0072 others(2): Show |
6 | 413 | 0.0145 | 32 | c.771 others(49): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HAO2_chr1_119363785_119399130 | 119394660 | T | TATGTGTA others(25): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 NA18522.hp2 NA21309.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0287 |
3 | 425 | 0.0071 | 32 | c.*82 others(41): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 531 | chr1 | TogoVar |