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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRG3_chr15_26966181_27546984 | 27306979 | A | AATATAAA others(45): Show |
intron_variant | MODIFIER | HG01496.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0021a0001c0006t0003 | a0001c0001t0021g0072 a0001c0006t0003g0008 |
2 | 92 | 0.0217 | 52 | c.271 others(71): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241774635 | G | GGCTGCTC others(45): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 314 | 0.0032 | 52 | c.-23 others(63): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2186 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805963 | T | TCTGCAGG others(45): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 314 | 0.0032 | 52 | c.*17 others(63): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1677 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38686233 | T | TTTCTTTC others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 a0001c0001t0002g0314 |
2 | 328 | 0.0061 | 52 | c.553 others(69): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38686258 | T | TTCTTTCT others(45): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01358.hp2 HG02615.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0024 others(5): Show |
8 | 328 | 0.0244 | 52 | c.553 others(69): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154285784 | T | TAGAAAAC others(45): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0234 | 1 | 236 | 0.0042 | 52 | c.160 others(69): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154293614 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0022 | 1 | 236 | 0.0042 | 52 | c.160 others(69): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154144001 | T | TTCAAGTT others(45): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0185 | 1 | 214 | 0.0047 | 52 | c.311 others(69): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(45): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020 | a0001c0001t0013g0174 a0001c0001t0020g0120 |
2 | 214 | 0.0094 | 52 | c.975 others(71): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69342474 | A | AAGGGAGG others(45): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 306 | 0.0033 | 52 | c.127 others(69): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680459 | T | TCTTCCTC others(45): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0050 | 1 | 76 | 0.0132 | 52 | c.150 others(71): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32471918 | G | GCTTGCTT others(45): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 192 | 0.0052 | 52 | c.-14 others(63): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 1037 | chr18 | TogoVar | |||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0269 |
2 | 300 | 0.0067 | 52 | c.287 others(69): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(45): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0198 | 1 | 382 | 0.0026 | 52 | c.-11 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(45): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0009 | 1 | 382 | 0.0026 | 52 | c.-11 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(45): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0008 | 1 | 382 | 0.0026 | 52 | c.-11 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477245 | C | CCTTTCTT others(45): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 382 | 0.0026 | 52 | c.-13 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1251 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477303 | T | TTTCTTTC others(45): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0133 | 1 | 382 | 0.0026 | 52 | c.-13 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1309 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477303 | T | TTTCTTTC others(45): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 382 | 0.0026 | 52 | c.-13 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1309 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(45): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0009 | 1 | 382 | 0.0026 | 52 | c.-13 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(45): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0111 | 1 | 382 | 0.0026 | 52 | c.-13 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477305 | T | TCTTTCTT others(45): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 NA19068.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0103 a0001c0002t0006g0144 |
2 | 382 | 0.0052 | 52 | c.-13 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1311 | chr20 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22204288 | C | CTCTTTCT others(45): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 HG02071.hp2 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0013 others(9): Show |
12 | 286 | 0.0420 | 52 | c.*34 others(63): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1761 | chr18 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151697949 | G | GTATATAT others(45): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 320 | 0.0031 | 52 | c.119 others(71): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151697951 | G | GTATATAT others(45): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 320 | 0.0031 | 52 | c.119 others(71): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10606603 | C | CTTCCATT others(45): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01074.hp2 others(49): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0059 others(49): Show |
52 | 324 | 0.1605 | 52 | c.926 others(71): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10606614 | G | GAAATTTA others(45): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 324 | 0.0031 | 52 | c.926 others(71): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10606603 | C | CTTCCATT others(45): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01074.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(49): Show |
53 | 344 | 0.1541 | 52 | c.920 others(71): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10550809_10634368 | 10606614 | G | GAAATTTA others(45): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 344 | 0.0029 | 52 | c.920 others(71): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59610228 | T | TTCCTTCC others(45): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0108 | 1 | 428 | 0.0023 | 52 | c.-20 others(63): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1554 | chr15 | TogoVar | |||||||
GC_chr4_71736697_71789079 | 71775557 | A | AAACATAG others(45): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 388 | 0.0026 | 52 | c.59- others(67): Show |
GC | ENSG00000145321.13 | transcript | ENST00000273951.13 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
GDPD1_chr17_59215511_59280970 | 59255876 | C | CACGTATA others(45): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0256 | 1 | 312 | 0.0032 | 52 | c.368 others(69): Show |
GDPD1 | ENSG00000153982.11 | transcript | ENST00000284116.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0152 | 1 | 422 | 0.0024 | 52 | c.58- others(65): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(45): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03579.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0108 a0003c0003t0001g0154 |
2 | 422 | 0.0047 | 52 | c.58- others(65): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474285 | A | AAGAAAGA others(45): Show |
intron_variant | MODIFIER | HG01123.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 a0001c0001t0005g0131 |
2 | 210 | 0.0095 | 52 | c.-12 others(71): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAGAAA others(45): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0023 | 1 | 210 | 0.0048 | 52 | c.-12 others(71): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAGAAAGA others(45): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0085 | 1 | 210 | 0.0048 | 52 | c.-12 others(71): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(45): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG02083.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0098 |
14 | 464 | 0.0302 | 52 | c.204 others(67): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(45): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 2 | 464 | 0.0043 | 52 | c.204 others(67): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33043785 | A | AAAAATAC others(45): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00741.hp1 others(20): Show |
a0001a0006 | a0001c0001a0006c0021 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(20): Show |
23 | 394 | 0.0584 | 52 | c.106 others(71): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0373 | 1 | 394 | 0.0025 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19079.hp2 |
a0001 | a0001c0006a0001c0010 | a0001c0006t0001a0001c0010t0001 | a0001c0006t0001g0096 a0001c0010t0001g0230 |
2 | 394 | 0.0051 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18956.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0292 a0002c0003t0001g0325 |
2 | 394 | 0.0051 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18963.hp2 NA19012.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0003t0001g0314 |
3 | 394 | 0.0076 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 NA18970.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0001 | a0002c0002t0002g0257 a0002c0002t0002g0305 a0002c0002t0002g0306 others(3): Show |
6 | 394 | 0.0152 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18969.hp2 NA19000.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0001 | a0002c0002t0002g0291 a0002c0002t0002g0377 a0002c0003t0001g0344 |
3 | 394 | 0.0076 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0290 | 1 | 394 | 0.0025 | 52 | c.76- others(67): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182660 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0034 a0001c0001t0020g0126 |
2 | 158 | 0.0127 | 52 | c.125 others(71): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182662 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0006 | a0001c0006t0036 | a0001c0006t0036g0078 | 1 | 158 | 0.0063 | 52 | c.125 others(71): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLOD4_chr17_754330_787280 | 768701 | G | GGAAGAAA others(45): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(242): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(176): Show |
245 | 420 | 0.5833 | 52 | c.831 others(69): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar |