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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG02559.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0012 | a0001c0002t0001a0001c0002t0011a0001c0003t0001others(2): Show | a0001c0002t0001g0084a0001c0002t0001g0086a0001c0002t0011g0029others(4): Show | 7 | 342 | 0.0205 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 342 | 0.0029 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAGTATAT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0165 | 1 | 342 | 0.0029 | 17 | c.334 others(34): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18954.hp2 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0231a0001c0001t0001g0238a0001c0001t0001g0240others(3): Show | 6 | 342 | 0.0175 | 17 | c.182 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01516.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0012a0001c0001t0014a0001c0002t0003others(3): Show | a0001c0001t0012g0163a0001c0001t0014g0172a0001c0001t0014g0176others(6): Show | 9 | 342 | 0.0263 | 17 | c.775 others(34): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74539999 | A | ATATATTA others(10): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 342 | 0.0029 | 17 | c.439 others(34): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74542766 | G | GAAGGAAG others(10): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0329 | 1 | 342 | 0.0029 | 17 | c.439 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74574883 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18982.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224a0001c0001t0001g0261a0001c0001t0001g0319 | 3 | 342 | 0.0088 | 17 | c.438 others(36): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 41968713 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0126 | 1 | 158 | 0.0063 | 17 | c.210 others(34): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
GLI4_chr8_143262445_143281931 | 143268859 | C | CTGCTGCT others(10): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0108 | 1 | 394 | 0.0025 | 17 | c.-37 others(32): Show |
GLI4 | ENSG00000250571.7 | transcript | ENST00000340042.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GLIPR1L1_chr12_75329670_75375560 | 75370695 | A | ATGTTCTG others(10): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 370 | 0.0027 | 17 | c.*51 others(26): Show |
GLIPR1L1 | ENSG00000173401.10 | transcript | ENST00000378695.9 | protein_coding | 136 | chr12 | TogoVar | ||||||
GLIPR1_chr12_75475755_75508863 | 75482942 | A | AAAAAATC others(10): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 362 | 0.0028 | 17 | c.420 others(32): Show |
GLIPR1 | ENSG00000139278.10 | transcript | ENST00000266659.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLIS3_chr9_3819127_4305068 | 3896670 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(40): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0121others(40): Show | 43 | 188 | 0.2287 | 17 | c.212 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 7/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3991683 | A | AATTTTTT others(10): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03225.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0015a0002c0002t0004a0002c0002t0052others(3): Show | a0001c0001t0015g0078a0002c0002t0004g0035a0002c0002t0052g0042others(3): Show | 6 | 188 | 0.0319 | 17 | c.171 others(38): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4257586 | T | TTGTTGTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(56): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0025others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0124a0001c0001t0001g0141a0001c0001t0001g0144others(56): Show | 59 | 188 | 0.3138 | 17 | c.388 others(36): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
GLMP_chr1_156287688_156300679 | 156296579 | A | AAATATAT others(10): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 17 | c.-93 others(26): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 901 | chr1 | TogoVar | ||||||
GLO1_chr6_38670925_38708145 | 38707754 | A | AAGAAAGA others(10): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 410 | 0.0024 | 17 | c.-47 others(28): Show |
GLO1 | ENSG00000124767.7 | transcript | ENST00000373365.5 | protein_coding | 4610 | chr6 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849104 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 284 | 0.0035 | 17 | c.912 others(34): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 284 | 0.0035 | 17 | c.912 others(34): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLRA2_chrX_14524536_14736812 | 14681910 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0185 | 1 | 232 | 0.0043 | 17 | c.931 others(34): 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(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0079 | 1 | 232 | 0.0043 | 17 | c.931 others(34): Show |
GLRA2 | ENSG00000101958.14 | transcript | ENST00000218075.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128879378 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 320 | 0.0031 | 17 | c.217 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128879461 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 320 | 0.0031 | 17 | c.217 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128881561 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 320 | 0.0031 | 17 | c.217 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128942735 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 320 | 0.0031 | 17 | c.616 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128956158 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03516.hp2 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0005a0001c0001t0002g0287a0001c0001t0005g0173others(1): Show | 4 | 320 | 0.0125 | 17 | c.781 others(34): 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(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00741.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0077a0001c0001t0001g0083a0001c0001t0001g0087others(25): Show | 28 | 320 | 0.0875 | 17 | c.781 others(34): 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(10): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0272 | 1 | 320 | 0.0031 | 17 | c.781 others(34): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128971727 | C | CCCCCTCC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 320 | 0.0031 | 17 | c.880 others(36): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT6D1_chr9_135618648_135644540 | 135619940 | A | ACTCCCCT others(10): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0096 | 1 | 436 | 0.0023 | 17 | c.*41 others(28): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 3707 | chr9 | TogoVar | ||||||
GLT8D1_chr3_52689486_52710791 | 52692369 | A | ACTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(101): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010others(24): Show | 104 | 394 | 0.2640 | 17 | c.*24 others(28): Show |
GLT8D1 | ENSG00000016864.19 | transcript | ENST00000266014.11 | protein_coding | 2116 | chr3 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104007266 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 416 | 0.0024 | 17 | c.113 others(34): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 4/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104016777 | A | AAGAAAGA others(10): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0396 | 1 | 416 | 0.0024 | 17 | c.20- others(32): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104016885 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 416 | 0.0024 | 17 | c.20- others(32): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104032466 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 416 | 0.0024 | 17 | c.-16 others(38): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLUD1_chr10_87045202_87099843 | 87079936 | C | CTCTCCCT others(10): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 334 | 0.0030 | 17 | c.446 others(34): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
GLYATL1B_chr11_59081307_59099786 | 59097678 | T | TTTTTGTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 NA18982.hp2 |
a0006 | a0006c0006 | a0006c0006t0000 | a0006c0006t0000g0027 | 2 | 436 | 0.0046 | 17 | c.*28 others(28): Show |
GLYATL1B | ENSG00000255151.2 | transcript | ENST00000527482.2 | protein_coding | 2893 | chr11 | TogoVar | ||||||
GLYATL3_chr6_49494923_49533078 | 49524193 | C | CTGAAGCT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0000a0001a0002others(13): Show | a0000c0018a0001c0002a0001c0007others(17): Show | a0000c0018t0014a0001c0002t0001a0001c0002t0002others(33): Show | a0000c0018t0014g0009a0001c0002t0001g0002a0001c0002t0001g0026others(289): Show | 366 | 380 | 0.9632 | 17 | c.441 others(34): Show |
GLYATL3 | ENSG00000203972.10 | transcript | ENST00000371197.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GLYAT_chr11_58703757_58736943 | 58728862 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 364 | 0.0028 | 17 | c.-16 others(34): Show |
GLYAT | ENSG00000149124.11 | transcript | ENST00000344743.8 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
GMCL1_chr2_69824660_69886384 | 69838336 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0112 | 1 | 390 | 0.0026 | 17 | c.384 others(32): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GMCL1_chr2_69824660_69886384 | 69859742 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02145.hp1 HG02895.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0004a0001c0001t0003g0015a0001c0001t0003g0038others(10): Show | 18 | 390 | 0.0462 | 17 | c.107 others(36): Show |
GMCL1 | ENSG00000087338.5 | transcript | ENST00000282570.4 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GMCL2_chr5_178179505_178192371 | 178187475 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG02622.hp2 others(2): Show |
a0002a0016 | a0002c0002a0016c0014 | a0002c0002t0002a0002c0002t0008a0016c0014t0002 | a0002c0002t0002g0000a0002c0002t0008g0000a0016c0014t0002g0000 | 5 | 452 | 0.0111 | 17 | c.-17 others(26): Show |
GMCL2 | ENSG00000244234.3 | transcript | ENST00000463439.3 | protein_coding | 105 | chr5 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1643354 | A | AACGAACC others(10): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 166 | 0.0060 | 17 | c.988 others(36): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 2052116 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0002t0001g0049 | 2 | 166 | 0.0121 | 17 | c.345 others(36): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GMEB1_chr1_28663784_28724353 | 28687383 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0200 | 1 | 290 | 0.0035 | 17 | c.129 others(34): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GMEB1_chr1_28663784_28724353 | 28720201 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0026 | a0001c0002t0016g0011a0001c0002t0026g0084 | 2 | 290 | 0.0069 | 17 | c.*54 others(28): Show |
GMEB1 | ENSG00000162419.13 | transcript | ENST00000373816.6 | protein_coding | 849 | chr1 | TogoVar | ||||||
GMPR2_chr14_24227929_24244242 | 24232392 | A | ACCCCCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 17 | c.-62 others(26): Show |
GMPR2 | ENSG00000100938.19 | transcript | ENST00000399440.7 | protein_coding | 536 | chr14 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16289848 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 344 | 0.0029 | 17 | c.698 others(32): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GNA14_chr9_77418079_77653322 | 77431024 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0116a0001c0001t0005g0199 | 2 | 240 | 0.0083 | 17 | c.593 others(32): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0164 | 1 | 240 | 0.0042 | 17 | c.309 others(36): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar |