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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GGT1_chr22_24598193_24633996 | 24614348 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0044 | 1 | 426 | 0.0024 | 13 | c.165 others(28): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24620539 | C | CCCCCTGA others(6): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0186 | 1 | 426 | 0.0024 | 13 | c.575 others(26): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT5_chr22_24214660_24250082 | 24238813 | T | TATTATAT others(6): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0358a0008c0011t0002g0359 | 2 | 420 | 0.0048 | 13 | c.174 others(30): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GGT7_chr20_34839720_34877856 | 34877086 | G | GTGACGGG others(6): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 354 | 0.0028 | 13 | c.-42 others(24): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 4231 | chr20 | TogoVar | ||||||
GHITM_chr10_84134509_84158568 | 84154843 | A | AAATTAGT others(6): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 450 | 0.0022 | 13 | c.*24 others(24): Show |
GHITM | ENSG00000165678.22 | transcript | ENST00000372134.6 | protein_coding | 1276 | chr10 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42588526 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0002g0021a0001c0001t0002g0176a0001c0001t0005g0079others(9): Show | 12 | 210 | 0.0571 | 13 | c.70+ others(30): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42670880 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0083 | 1 | 210 | 0.0048 | 13 | c.137 others(32): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
GID4_chr17_18034408_18073405 | 18073216 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0012 | 1 | 308 | 0.0033 | 13 | c.*79 others(24): Show |
GID4 | ENSG00000141034.10 | transcript | ENST00000268719.9 | protein_coding | 4812 | chr17 | TogoVar | ||||||
GIMAP8_chr7_150445630_150484393 | 150446059 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0209 | 1 | 372 | 0.0027 | 13 | c.-51 others(24): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 4570 | chr7 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562316 | A | ATATTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0173a0001c0001t0013g0001 | 2 | 380 | 0.0053 | 13 | c.-40 others(24): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4058 | chr6 | TogoVar | ||||||
GINS1_chr20_25402673_25453563 | 25423452 | C | CTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 360 | 0.0028 | 13 | c.331 others(30): Show |
GINS1 | ENSG00000101003.12 | transcript | ENST00000262460.5 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
GINS2_chr16_85671198_85693954 | 85671439 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 HG02056.hp1 NA19076.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0043 | 3 | 470 | 0.0064 | 13 | c.*67 others(24): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 4758 | chr16 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0025 | a0001c0001t0004g0274a0001c0002t0025g0250 | 2 | 470 | 0.0043 | 13 | c.205 others(30): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41546849 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02080.hp2 NA18962.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0025 | a0001c0001t0002g0004a0001c0001t0002g0019a0001c0001t0002g0099others(3): Show | 10 | 426 | 0.0235 | 13 | c.*47 others(24): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41546882 | T | TTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 426 | 0.0024 | 13 | c.*47 others(24): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1853 | chr8 | TogoVar | ||||||
GIPC1_chr19_14472762_14501127 | 14487685 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01884.hp2 HG01952.hp2 others(45): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(30): Show | a0001c0001t0001g0125a0001c0001t0003g0274a0001c0001t0013g0366others(44): Show | 48 | 444 | 0.1081 | 13 | c.-31 others(30): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
GIPC3_chr19_3580478_3598541 | 3587695 | C | CTTTTTTC others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(2): Show | a0001c0002t0002g0030a0001c0002t0004g0043a0001c0002t0006g0030others(3): Show | 7 | 430 | 0.0163 | 13 | c.592 others(28): Show |
GIPC3 | ENSG00000179855.9 | transcript | ENST00000644452.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GIP_chr17_48953554_48973596 | 48965138 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 406 | 0.0025 | 13 | c.87- others(26): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89898538 | C | CTTTTCTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00673.hp2 others(60): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0002a0004c0009t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0004c0009t0001g0000 | 63 | 386 | 0.1632 | 13 | c.*24 others(24): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2419 | chr6 | TogoVar | ||||||
GJA8_chr1_147897795_147914269 | 147899925 | G | GAAGAAAG others(6): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 472 | 0.0021 | 13 | c.-29 others(24): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2869 | chr1 | TogoVar | ||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0005a0001c0001t0003g0004a0001c0001t0004g0007others(4): Show | 24 | 420 | 0.0571 | 13 | c.-47 others(24): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | ||||||
GJB2_chr13_20182470_20197938 | 20197464 | T | TAGAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 420 | 0.0024 | 13 | c.-47 others(24): Show |
GJB2 | ENSG00000165474.8 | transcript | ENST00000382848.5 | protein_coding | 4527 | chr13 | TogoVar | ||||||
GJC1_chr17_44793448_44835287 | 44833255 | G | GTGTGTGT others(6): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 380 | 0.0026 | 13 | c.-32 others(24): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 2969 | chr17 | TogoVar | ||||||
GJD2_chr15_34746032_34759998 | 34751954 | G | GAAAAAAA others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01255.hp2 others(28): Show |
a0001 | a0001c0002a0001c0005a0001c0008 | a0001c0002t0004a0001c0002t0048a0001c0005t0004others(1): Show | a0001c0002t0004g0004a0001c0002t0048g0059a0001c0005t0004g0021others(1): Show | 31 | 446 | 0.0695 | 13 | c.*52 others(22): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 2/2 | 523 | chr15 | TogoVar | |||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTCTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0239 | 1 | 272 | 0.0037 | 13 | c.*57 others(24): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | |||||
GK5_chr3_142152527_142230585 | 142159853 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0097a0001c0001t0025g0116 | 2 | 272 | 0.0074 | 13 | c.*57 others(24): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5768 | chr3 | TogoVar | |||||
GK5_chr3_142152527_142230585 | 142184260 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020a0001c0001t0022 | a0001c0001t0006g0029a0001c0001t0006g0030a0001c0001t0006g0146others(2): Show | 5 | 272 | 0.0184 | 13 | c.817 others(30): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142212822 | A | ATGTTTTC others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0092 | 1 | 272 | 0.0037 | 13 | c.317 others(28): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142212839 | T | TTCTTTTT others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02074.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0064others(1): Show | a0001c0001t0001g0134a0001c0001t0008g0215a0001c0001t0008g0233others(2): Show | 5 | 272 | 0.0184 | 13 | c.317 others(28): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
GKAP1_chr9_83734425_83822769 | 83738939 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 336 | 0.0030 | 13 | c.*75 others(22): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 485 | chr9 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68972111 | A | AACAGTCT others(6): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 464 | 0.0022 | 13 | c.-25 others(24): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 2524 | chr2 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33022564 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0081 | 2 | 394 | 0.0051 | 13 | c.114 others(30): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 11/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0235a0001c0005t0001g0254 | 2 | 394 | 0.0051 | 13 | c.106 others(32): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0327 | 1 | 394 | 0.0025 | 13 | c.106 others(32): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLCCI1_chr7_7963796_8094080 | 7976479 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0220a0001c0001t0001g0225a0001c0001t0001g0227others(57): Show | 60 | 416 | 0.1442 | 13 | c.457 others(30): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCCI1_chr7_7963796_8094080 | 7976497 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 416 | 0.0024 | 13 | c.457 others(30): 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(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00738.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0001g0230a0001c0001t0001g0246a0001c0001t0001g0260others(25): Show | 28 | 416 | 0.0673 | 13 | c.696 others(30): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GLCE_chr15_69155635_69277207 | 69273450 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 342 | 0.0029 | 13 | c.*42 others(24): Show |
GLCE | ENSG00000138604.10 | transcript | ENST00000261858.7 | protein_coding | 1244 | chr15 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6541826 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02523.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0004g0291a0001c0002t0002g0010a0001c0003t0001g0073others(1): Show | 4 | 342 | 0.0117 | 13 | c.257 others(32): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 21/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6585892 | C | CTATCTAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(5): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0006a0010c0039others(1): Show | a0001c0001t0003a0001c0001t0004a0002c0006t0002others(2): Show | a0001c0001t0003g0158a0001c0001t0003g0251a0001c0001t0003g0287others(5): Show | 8 | 342 | 0.0234 | 13 | c.185 others(32): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 15/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0239 | 1 | 342 | 0.0029 | 13 | c.334 others(30): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6639668 | A | AAGTATAT others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0121a0001c0001t0002g0145 | 2 | 342 | 0.0059 | 13 | c.334 others(30): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6644029 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0153 | 1 | 342 | 0.0029 | 13 | c.334 others(28): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDN_chr15_51336655_51413000 | 51353734 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0053 | 1 | 412 | 0.0024 | 13 | c.363 others(32): Show |
GLDN | ENSG00000186417.15 | transcript | ENST00000335449.11 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
GLE1_chr9_128499719_128547288 | 128503280 | T | TACAGGCG others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(353): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(335): Show | 356 | 360 | 0.9889 | 13 | c.-15 others(24): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 1438 | chr9 | TogoVar | ||||||
GLE1_chr9_128499719_128547288 | 128532209 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02040.hp2 HG03239.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0274a0002c0002t0003g0276a0002c0002t0003g0278others(3): Show | 6 | 360 | 0.0167 | 13 | c.131 others(32): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GLE1_chr9_128499719_128547288 | 128535071 | G | GCATAAAA others(6): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0133others(2): Show | 5 | 360 | 0.0139 | 13 | c.164 others(32): Show |
GLE1 | ENSG00000119392.16 | transcript | ENST00000309971.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GLG1_chr16_74442440_74612114 | 74479051 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0007others(1): Show | a0001c0001t0001g0259a0001c0001t0001g0321a0001c0004t0001g0089others(6): Show | 9 | 342 | 0.0263 | 13 | c.182 others(32): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 11/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74498447 | A | AAGTATAT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(6): Show | a0001c0001t0001g0194a0001c0001t0001g0238a0001c0001t0001g0241others(35): Show | 38 | 342 | 0.1111 | 13 | c.775 others(30): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 4/25 | chr16 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74506581 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01255.hp2 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0314a0001c0001t0002g0298a0001c0001t0006g0275others(6): Show | 9 | 342 | 0.0263 | 13 | c.558 others(30): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 3/25 | chr16 | TogoVar |