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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG03704.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0078 others(1): Show |
4 | 406 | 0.0099 | 22 | c.87- others(35): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
GJA10_chr6_89889469_89901120 | 89900758 | T | TTTTATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 386 | 0.0026 | 22 | c.*46 others(33): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 4639 | chr6 | TogoVar | |||||||
GJA4_chr1_34787999_34800747 | 34794548 | A | AGCTGCGG others(15): Show |
frameshift_variant | HIGH | HG01258.hp2 | a0008 | a0008c0014 | a0008c0014t0002 | a0008c0014t0002g0002 | 1 | 416 | 0.0024 | 22 | c.337 others(29): Show |
p.Asp others(5): Show |
GJA4 | ENSG00000187513.9 | transcript | ENST00000342280.5 | protein_coding | 2/2 | 446/1621 | 359/1002 | 120/333 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
GJA8_chr1_147897795_147914269 | 147899925 | G | GAGAAAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 HG03491.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0002t0001g0003 |
7 | 472 | 0.0148 | 22 | c.-29 others(33): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2869 | chr1 | TogoVar | |||||||
GJA9_chr1_38869069_38886587 | 38882338 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02015.hp2 HG02129.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0010a0001c0003t0011 | a0001c0003t0004g0004 a0001c0003t0010g0092 a0001c0003t0011g0094 |
12 | 444 | 0.0270 | 22 | c.-10 others(33): Show |
GJA9 | ENSG00000131233.10 | transcript | ENST00000357771.5 | protein_coding | 752 | chr1 | TogoVar | |||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02738.hp1 HG03834.hp2 others(2): Show |
a0001a0006a0009 | a0001c0001a0006c0006a0009c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0003g0004 a0001c0001t0005g0010 others(2): Show |
5 | 420 | 0.0119 | 22 | c.-47 others(33): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | |||||||
GJB6_chr13_20216962_20237319 | 20218592 | C | CTTCTTTC others(15): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0054 | 1 | 460 | 0.0022 | 22 | c.*41 others(33): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 3369 | chr13 | TogoVar | |||||||
GJB6_chr13_20216962_20237319 | 20218600 | T | TTTCCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 460 | 0.0022 | 22 | c.*40 others(33): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 3361 | chr13 | TogoVar | |||||||
GJB6_chr13_20216962_20237319 | 20218615 | C | CCTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0075 a0001c0001t0002g0147 others(1): Show |
4 | 460 | 0.0087 | 22 | c.*40 others(33): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 3346 | chr13 | TogoVar | |||||||
GK5_chr3_142152527_142230585 | 142159847 | C | CTTTTTTT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0034 | a0001c0001t0039g0115 a0001c0002t0034g0044 |
2 | 272 | 0.0074 | 22 | c.*57 others(33): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5774 | chr3 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTCTTTTT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0081a0001c0001t0084 | a0001c0001t0081g0065 a0001c0001t0084g0093 |
2 | 272 | 0.0074 | 22 | c.*57 others(33): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTTTTTTT others(15): Show |
3_prime_UTR_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0073 | 1 | 272 | 0.0037 | 22 | c.*57 others(33): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | ||||||
GKAP1_chr9_83734425_83822769 | 83779528 | T | TATGTGTA others(15): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 336 | 0.0030 | 22 | c.585 others(37): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83779529 | A | ATATGTGT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 336 | 0.0030 | 22 | c.585 others(37): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 7/12 | chr9 | TogoVar | |||||||
GKN1_chr2_68969636_68985976 | 68974155 | T | TGAGTTGT others(15): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 464 | 0.0022 | 22 | c.-52 others(31): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 480 | chr2 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30704128 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03834.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0002g0168 |
3 | 286 | 0.0105 | 22 | c.851 others(39): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLA_chrX_101392803_101412925 | 101407461 | C | CGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02559.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0039 a0001c0001t0002g0040 |
4 | 318 | 0.0126 | 22 | c.194 others(37): Show |
GLA | ENSG00000102393.15 | transcript | ENST00000218516.4 | protein_coding | 1/6 | chrX | TogoVar | |||||||
GLB1L_chr2_219231598_219250444 | 219241434 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 410 | 0.0024 | 22 | c.451 others(39): Show |
GLB1L | ENSG00000163521.16 | transcript | ENST00000295759.12 | protein_coding | 5/16 | chr2 | TogoVar | |||||||
GLB1L_chr2_219231598_219250444 | 219241465 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 |
2 | 410 | 0.0049 | 22 | c.451 others(39): Show |
GLB1L | ENSG00000163521.16 | transcript | ENST00000295759.12 | protein_coding | 5/16 | chr2 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 394 | 0.0025 | 22 | c.106 others(41): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 7966733 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0067 | a0001c0001t0001g0341 a0001c0001t0067g0367 |
2 | 416 | 0.0048 | 22 | c.-26 others(33): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2062 | chr7 | TogoVar | |||||||
GLCCI1_chr7_7963796_8094080 | 7976479 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0198 | 1 | 416 | 0.0024 | 22 | c.457 others(39): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 8023588 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0037 | a0001c0001t0008g0262 a0001c0001t0037g0292 |
2 | 416 | 0.0048 | 22 | c.696 others(39): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0020 | 1 | 342 | 0.0029 | 22 | c.334 others(39): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAGTATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0170 a0001c0001t0001g0175 others(22): Show |
26 | 342 | 0.0760 | 22 | c.334 others(39): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6639669 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0010 | a0002c0010t0004 | a0002c0010t0004g0010 | 1 | 342 | 0.0029 | 22 | c.334 others(39): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6644029 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0028 | a0001c0028t0006 | a0001c0028t0006g0232 | 1 | 342 | 0.0029 | 22 | c.334 others(37): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG04184.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0016a0001c0004t0001 | a0001c0003t0016g0038 a0001c0004t0001g0204 |
2 | 342 | 0.0059 | 22 | c.182 others(41): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74498448 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0197 | 1 | 342 | 0.0029 | 22 | c.775 others(39): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74540014 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0221 | 1 | 342 | 0.0029 | 22 | c.439 others(39): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLG1_chr16_74442440_74612114 | 74574883 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 342 | 0.0029 | 22 | c.438 others(41): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | |||||||
GLI2_chr2_120730868_120997653 | 120841848 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02622.hp2 HG03579.hp2 |
a0001a0002 | a0001c0007a0002c0001 | a0001c0007t0007a0002c0001t0018a0002c0001t0038 | a0001c0007t0007g0153 a0002c0001t0018g0110 a0002c0001t0038g0148 |
3 | 160 | 0.0188 | 22 | c.148 others(41): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120945957 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01943.hp1 HG02027.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0005a0002c0001t0004a0002c0001t0014others(1): Show | a0001c0002t0005g0121 a0002c0001t0004g0075 a0002c0001t0014g0119 others(1): Show |
4 | 160 | 0.0250 | 22 | c.255 others(39): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42182660 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0003 | a0003c0003t0032 | a0003c0003t0032g0017 | 1 | 158 | 0.0063 | 22 | c.125 others(41): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182662 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0152 | 1 | 158 | 0.0063 | 22 | c.125 others(41): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLIPR2_chr9_36131733_36168906 | 36134714 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG03017.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0274 others(6): Show |
10 | 420 | 0.0238 | 22 | c.-20 others(33): Show |
GLIPR2 | ENSG00000122694.16 | transcript | ENST00000377960.9 | protein_coding | 2018 | chr9 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53709407 | T | TATACATA others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 HG04228.hp2 NA20752.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0210 a0001c0001t0002g0117 a0003c0003t0001g0086 |
3 | 236 | 0.0127 | 22 | c.259 others(41): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3860272 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 188 | 0.0053 | 22 | c.229 others(41): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3896670 | T | TAATTAAA others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02451.hp2 HG02559.hp1 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0025others(2): Show | a0001c0001t0018a0002c0002t0024a0003c0025t0051others(2): Show | a0001c0001t0018g0072 a0002c0002t0024g0075 a0003c0025t0051g0037 others(2): Show |
5 | 188 | 0.0266 | 22 | c.212 others(41): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 7/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3953795 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0011 | a0011c0017 | a0011c0017t0071 | a0011c0017t0071g0174 | 1 | 188 | 0.0053 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3991683 | A | AATTTTTT others(15): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18961.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0170 a0002c0002t0001g0105 |
2 | 188 | 0.0106 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4053705 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0004a0007c0007t0011 | a0002c0002t0004g0040 a0007c0007t0011g0041 |
2 | 188 | 0.0106 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 | 1 | 188 | 0.0053 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0125 | 1 | 188 | 0.0053 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02083.hp2 NA19062.hp2 |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0028a0001c0010t0067a0002c0002t0001 | a0001c0001t0028g0161 a0001c0010t0067g0108 a0002c0002t0001g0096 |
3 | 188 | 0.0160 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4059829 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01192.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0002a0001c0001t0027a0001c0001t0038others(4): Show | a0001c0001t0002g0156 a0001c0001t0027g0159 a0001c0001t0038g0012 others(4): Show |
7 | 188 | 0.0372 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4084256 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 |
a0001a0013 | a0001c0001a0013c0011 | a0001c0001t0021a0013c0011t0056 | a0001c0001t0021g0057 a0013c0011t0056g0034 |
2 | 188 | 0.0106 | 22 | c.171 others(43): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156296605 | T | TAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 22 | c.-96 others(31): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 927 | chr1 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156296607 | T | TATAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 HG03490.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 396 | 0.0076 | 22 | c.-96 others(31): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 929 | chr1 | TogoVar | |||||||
GLMP_chr1_156287688_156300679 | 156296607 | T | TATATAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 NA18950.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 396 | 0.0076 | 22 | c.-96 others(31): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 929 | chr1 | TogoVar |