regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GINS2_chr16_85671198_85693954 | 85685679 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0080 | 1 | 470 | 0.0021 | 19 | c.205 others(36): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685679 | A | AAACAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0083a0001c0003t0018g0084 | 2 | 470 | 0.0043 | 19 | c.205 others(36): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG03491.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0039 | 3 | 426 | 0.0070 | 19 | c.*47 others(30): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | ||||||
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03139.hp2 HG04115.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0056a0001c0001t0001g0067others(2): Show | 5 | 406 | 0.0123 | 19 | c.87- others(32): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89900760 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 386 | 0.0026 | 19 | c.*46 others(30): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 4641 | chr6 | TogoVar | ||||||
GJB1_chrX_71218224_71230516 | 71220142 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 4 | 328 | 0.0122 | 19 | c.-32 others(30): Show |
GJB1 | ENSG00000169562.13 | transcript | ENST00000361726.7 | protein_coding | 3081 | chrX | TogoVar | ||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00673.hp2 others(23): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0054others(6): Show | 26 | 420 | 0.0619 | 19 | c.-47 others(30): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34751954 | G | GAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 NA19057.hp1 NA20129.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0050a0001c0004t0031 | a0001c0002t0050g0061a0001c0004t0031g0037 | 3 | 446 | 0.0067 | 19 | c.*52 others(28): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2/2 | 523 | chr15 | TogoVar | |||||
GK5_chr3_142152527_142230585 | 142159847 | C | CTTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02965.hp1 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0020a0001c0001t0045a0003c0005t0020 | a0001c0001t0020g0149a0001c0001t0045g0139a0003c0005t0020g0203 | 3 | 272 | 0.0110 | 19 | c.*57 others(30): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5774 | chr3 | TogoVar | |||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTCTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02615.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0089a0001c0001t0008g0162a0001c0001t0008g0213others(3): Show | 6 | 272 | 0.0221 | 19 | c.*57 others(30): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | |||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0221 | 1 | 272 | 0.0037 | 19 | c.*57 others(30): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | |||||
GLB1L2_chr11_134326988_134381324 | 134379781 | A | ACCTTGCC others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(16): Show |
a0001a0014a0016 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0003t0004others(4): Show | a0001c0001t0004g0054a0001c0001t0004g0056a0001c0001t0004g0108others(15): Show | 19 | 414 | 0.0459 | 19 | c.*47 others(30): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 3458 | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33022564 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01109.hp2 others(26): Show |
a0001a0002a0010 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0111others(26): Show | 29 | 394 | 0.0736 | 19 | c.114 others(36): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 11/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031638 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0345 | 1 | 394 | 0.0025 | 19 | c.106 others(38): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 394 | 0.0025 | 19 | c.106 others(38): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7966733 | C | CTTCTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0088 | a0001c0006t0088g0377 | 1 | 416 | 0.0024 | 19 | c.-26 others(30): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2062 | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7966733 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02165.hp2 NA18963.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0228a0001c0001t0001g0253a0001c0001t0001g0254others(2): Show | 5 | 416 | 0.0120 | 19 | c.-26 others(30): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 2062 | chr7 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7976479 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03017.hp1 NA18953.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0048a0001c0001t0073 | a0001c0001t0009g0389a0001c0001t0048g0391a0001c0001t0073g0408 | 3 | 416 | 0.0072 | 19 | c.457 others(36): 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(12): Show |
intron_variant | MODIFIER | HG02523.hp1 NA19009.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0252a0001c0001t0001g0342 | 3 | 416 | 0.0072 | 19 | c.696 others(36): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 342 | 0.0029 | 19 | c.334 others(36): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0002g0135 | 2 | 342 | 0.0059 | 19 | c.334 others(36): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 NA18952.hp1 NA18970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0090a0001c0001t0001g0229a0001c0001t0001g0237others(2): Show | 5 | 342 | 0.0146 | 19 | c.182 others(38): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0020 | a0001c0001t0001g0228a0001c0002t0003g0059a0001c0002t0020g0056others(1): Show | 4 | 342 | 0.0117 | 19 | c.775 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | ||||||
GLI2_chr2_120730868_120997653 | 120963480 | A | ATGTGTCT others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0004a0003c0013others(3): Show | a0001c0003t0039a0002c0004t0009a0003c0013t0001others(5): Show | a0001c0003t0039g0149a0002c0004t0009g0102a0003c0013t0001g0001others(5): Show | 8 | 160 | 0.0500 | 19 | c.644 others(36): Show |
GLI2 | ENSG00000074047.22 | transcript | ENST00000361492.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLI3_chr7_41955949_42242209 | 42020889 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0115 | 1 | 158 | 0.0063 | 19 | c.149 others(38): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53502806 | A | AGGAGAGA others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG04199.hp1 |
a0003a0005 | a0003c0003a0005c0009 | a0003c0003t0001a0003c0003t0004a0005c0009t0003 | a0003c0003t0001g0159a0003c0003t0004g0220a0005c0009t0003g0001 | 3 | 236 | 0.0127 | 19 | c.*38 others(30): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 3432 | chr1 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3896670 | T | TAATTAAA others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0086 | 1 | 188 | 0.0053 | 19 | c.212 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 7/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3991683 | A | AATTTTTT others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02615.hp2 others(1): Show |
a0001a0002a0020 | a0001c0001a0002c0002a0020c0018 | a0001c0001t0018a0002c0002t0004a0002c0002t0013others(1): Show | a0001c0001t0018g0088a0002c0002t0004g0076a0002c0002t0013g0027others(1): Show | 4 | 188 | 0.0213 | 19 | c.171 others(40): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLMN_chr1_92241402_92303987 | 92261822 | C | CGGAGTGA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(96): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0003 | a0001c0001t0002a0001c0008t0002a0007c0003t0002 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0004others(80): Show | 99 | 200 | 0.4950 | 19 | c.147 others(38): Show |
GLMN | ENSG00000174842.17 | transcript | ENST00000370360.8 | protein_coding | 16/18 | chr1 | TogoVar | ||||||
GLOD5_chrX_48756747_48778648 | 48766985 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090a0001c0001t0002g0160 | 2 | 269 | 0.0074 | 19 | c.201 others(36): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9873556 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0157 | 1 | 380 | 0.0026 | 19 | c.114 others(38): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLRA1_chr5_151817513_151929851 | 151849163 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 284 | 0.0035 | 19 | c.912 others(36): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849188 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02572.hp1 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0057others(1): Show | 4 | 284 | 0.0141 | 19 | c.912 others(36): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849198 | T | TTCCTTCC others(12): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 284 | 0.0035 | 19 | c.912 others(36): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849433 | T | TCCCTCCC others(12): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 | 1 | 284 | 0.0035 | 19 | c.912 others(36): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(12): Show |
intron_variant | MODIFIER | HG03239.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203a0001c0001t0002g0243 | 2 | 284 | 0.0070 | 19 | c.912 others(36): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681906 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035a0001c0001t0003g0039a0001c0001t0003g0049 | 3 | 232 | 0.0129 | 19 | c.931 others(36): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681908 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03017.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0047 | 2 | 232 | 0.0086 | 19 | c.931 others(36): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | chrX | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0060 | 1 | 232 | 0.0043 | 19 | c.931 others(36): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0073 | 1 | 232 | 0.0043 | 19 | c.931 others(36): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128956171 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01928.hp2 HG01952.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0162others(4): Show | 7 | 320 | 0.0219 | 19 | c.781 others(36): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128956171 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0242 | 2 | 320 | 0.0063 | 19 | c.781 others(36): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128971605 | T | TCTCCCTT others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0077a0001c0001t0001g0264a0001c0002t0001g0024others(2): Show | 5 | 320 | 0.0156 | 19 | c.880 others(38): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128971634 | C | CCCCTCCC others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263 | 1 | 320 | 0.0031 | 19 | c.880 others(38): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128973179 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03704.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0283a0001c0001t0003g0158a0001c0001t0003g0306 | 3 | 320 | 0.0094 | 19 | c.880 others(36): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT8D1_chr3_52689486_52710791 | 52692369 | A | ACTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 NA19030.hp2 NA19065.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0006a0001c0001t0002g0002a0002c0002t0002g0004 | 3 | 394 | 0.0076 | 19 | c.*24 others(30): Show |
GLT8D1 | ENSG00000016864.19 | transcript | ENST00000266014.11 | protein_coding | 2116 | chr3 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104007266 | C | CTCTCTCT others(12): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 416 | 0.0024 | 19 | c.113 others(36): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 4/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104014400 | T | TGATTTTT others(12): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0330 | 1 | 416 | 0.0024 | 19 | c.112 others(34): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 4/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104032466 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02109.hp2 HG03704.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0087a0001c0001t0001g0088others(5): Show | 8 | 416 | 0.0192 | 19 | c.-16 others(40): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104045891 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 416 | 0.0024 | 19 | c.-16 others(38): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar |