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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FTCD_chr21_46131779_46160579 | 46135315 | A | AAATGTCC others(43): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 230 | 0.0044 | 50 | c.*16 others(61): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 1463 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46140360 | C | CCCCCGTC others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(196): Show |
206 | 230 | 0.8957 | 50 | c.126 others(69): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067102 | C | CACACATA others(43): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0000 | 1 | 336 | 0.0030 | 50 | c.*42 others(61): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 4130 | chrX | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067395 | T | TGCACACA others(43): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 336 | 0.0030 | 50 | c.*40 others(61): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3837 | chrX | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067475 | T | TGCACACA others(43): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 336 | 0.0030 | 50 | c.*39 others(61): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3757 | chrX | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067493 | T | TATATGCA others(43): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(19): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0000 a0002c0004t0001g0000 |
22 | 336 | 0.0655 | 50 | c.*39 others(61): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3739 | chrX | TogoVar | |||||||
FTHL17_chrX_31066233_31077041 | 31067504 | G | GCACACAC others(43): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01192.hp1 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 336 | 0.0149 | 50 | c.*38 others(61): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3728 | chrX | TogoVar | |||||||
FZD10_chr12_130157464_130170740 | 130157862 | T | TACACACA others(43): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 450 | 0.0044 | 50 | c.-50 others(61): Show |
FZD10 | ENSG00000111432.5 | transcript | ENST00000229030.5 | protein_coding | 4601 | chr12 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27388322 | A | AGAAGGAA others(43): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0023 | 1 | 92 | 0.0109 | 50 | c.574 others(69): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292742 | A | AATCGTAT others(43): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19030.hp1 NA19240.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0013a0001c0002t0005a0002c0004t0004 | a0001c0001t0013g0357 a0001c0002t0005g0294 a0001c0002t0005g0295 others(1): Show |
4 | 366 | 0.0109 | 50 | c.220 others(67): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GAGE12J_chrX_49317037_49334384 | 49331797 | G | GGGCTCGG others(43): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 194 | 0.0052 | 50 | c.*25 others(61): Show |
GAGE12J | ENSG00000224659.3 | transcript | ENST00000442437.3 | protein_coding | 2414 | chrX | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806159 | C | CCCTCCCT others(43): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 314 | 0.0032 | 50 | c.*19 others(61): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1873 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806532 | A | ACCCTCCC others(43): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 314 | 0.0032 | 50 | c.*23 others(61): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38686261 | T | TTTCTTTC others(43): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 328 | 0.0031 | 50 | c.553 others(67): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154293613 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0038 | a0001c0004t0038g0063 | 1 | 236 | 0.0042 | 50 | c.160 others(67): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0020 | a0001c0001t0009g0091 a0001c0001t0020g0092 |
2 | 214 | 0.0094 | 50 | c.975 others(69): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016a0001c0001t0024others(1): Show | a0001c0001t0009g0100 a0001c0001t0016g0173 a0001c0001t0024g0096 others(1): Show |
4 | 214 | 0.0187 | 50 | c.975 others(69): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71316188 | G | GTCCTGAT others(43): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG00741.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0041 a0001c0001t0003g0001 a0001c0001t0005g0051 others(15): Show |
18 | 76 | 0.2368 | 50 | c.239 others(69): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132294630 | A | AGAGGGCA others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(26): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(29): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 others(98): Show |
101 | 183 | 0.5519 | 50 | c.239 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132320628 | G | GCCTGGGA others(43): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(107): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(32): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 others(107): Show |
110 | 183 | 0.6011 | 50 | c.238 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132320628 | G | GCCTGGGA others(43): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02615.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0143 a0001c0002t0001g0151 a0001c0002t0001g0152 others(4): Show |
7 | 183 | 0.0383 | 50 | c.238 others(67): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172156549 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0010g0021 others(1): Show |
4 | 40 | 0.1000 | 50 | c.139 others(69): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176044 | A | AGCTGCCA others(43): Show |
5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0302 a0001c0002t0016g0303 |
2 | 444 | 0.0045 | 50 | c.-45 others(57): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/6 | 1051 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GALP_chr19_56171008_56190775 | 56176044 | A | AGCTGCCA others(43): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0010 a0001c0001t0018g0250 |
2 | 444 | 0.0045 | 50 | c.-56 others(60): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176046 | C | CTGCCAGC others(43): Show |
5_prime_UTR_variant | MODIFIER | HG00735.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0022 | a0001c0001t0021g0174 a0001c0002t0022g0300 |
2 | 444 | 0.0045 | 50 | c.-45 others(57): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/6 | 1051 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GALP_chr19_56171008_56190775 | 56176048 | G | GCCAGCTG others(43): Show |
5_prime_UTR_variant | MODIFIER | HG01928.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0023 | a0001c0001t0019g0126 a0001c0001t0023g0253 |
2 | 444 | 0.0045 | 50 | c.-45 others(57): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/6 | 1051 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GALP_chr19_56171008_56190775 | 56176058 | G | GCGGGGTG others(43): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01123.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0017a0002c0003t0017 | a0001c0001t0017g0188 a0002c0003t0017g0187 |
2 | 444 | 0.0045 | 50 | c.-40 others(63): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176108 | C | CCGGGGTG others(43): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18991.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0298 a0001c0002t0001g0299 |
2 | 444 | 0.0045 | 50 | c.-40 others(63): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176137 | C | CAGGGGCG others(43): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0129 | 1 | 444 | 0.0023 | 50 | c.-40 others(63): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176258 | G | GCGGGGTG others(43): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG01258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 others(4): Show |
8 | 444 | 0.0180 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176296 | A | ATGCCAGC others(43): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18957.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0089 a0001c0002t0002g0084 a0001c0002t0002g0086 others(1): Show |
4 | 444 | 0.0090 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176298 | C | CCCAGCTG others(43): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 444 | 0.0023 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176298 | C | CCCAGCTG others(43): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18993.hp1 NA19072.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0063 a0001c0002t0001g0275 a0001c0002t0001g0276 others(3): Show |
6 | 444 | 0.0135 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176458 | G | GCGGGGTG others(43): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 444 | 0.0023 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176458 | G | GCGGGGTG others(43): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01496.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0267 a0001c0002t0004g0265 a0001c0002t0004g0266 others(3): Show |
6 | 444 | 0.0135 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176458 | G | GCGGGGTG others(43): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18957.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0089 a0001c0002t0002g0084 a0001c0002t0002g0086 others(1): Show |
4 | 444 | 0.0090 | 50 | c.-40 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176559 | C | CGGGGTGA others(43): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0159 | 1 | 444 | 0.0023 | 50 | c.-39 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176598 | G | GCCAGCTG others(43): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 444 | 0.0023 | 50 | c.-39 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176609 | C | CGGGGTGA others(43): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 444 | 0.0023 | 50 | c.-39 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GALP_chr19_56171008_56190775 | 56176659 | T | TGGGGTGA others(43): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01928.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0339 others(24): Show |
28 | 444 | 0.0631 | 50 | c.-39 others(65): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GARIN6_chr12_99642753_99655114 | 99646087 | T | TCTCTTCA others(43): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 456 | 0.0022 | 50 | c.-20 others(61): Show |
GARIN6 | ENSG00000180219.2 | transcript | ENST00000324341.2 | protein_coding | 1665 | chr12 | TogoVar | |||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 300 | 0.0033 | 50 | c.287 others(67): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0104 |
2 | 300 | 0.0067 | 50 | c.287 others(67): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02723.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0225 |
3 | 300 | 0.0100 | 50 | c.287 others(67): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34340438 | T | TTTTTCTT others(43): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0163 a0001c0002t0003g0171 |
2 | 326 | 0.0061 | 50 | c.148 others(67): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GATA6_chr18_22164589_22207528 | 22204288 | C | CTCTTTCT others(43): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041 | 1 | 286 | 0.0035 | 50 | c.*34 others(61): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1761 | chr18 | TogoVar | |||||||
GATB_chr4_151665504_151766007 | 151697949 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 320 | 0.0031 | 50 | c.119 others(69): Show |
GATB | ENSG00000059691.12 | transcript | ENST00000263985.11 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
GATC_chr12_120441444_120468749 | 120451295 | T | TTAGCCAG others(43): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0155 | 1 | 408 | 0.0025 | 50 | c.254 others(67): Show |
GATC | ENSG00000257218.6 | transcript | ENST00000551765.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GATD1_chr11_762222_782487 | 763204 | G | GCCCCGCC others(43): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 430 | 0.0023 | 50 | c.*76 others(61): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 4017 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 763235 | G | GCCCCCGC others(43): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 430 | 0.0023 | 50 | c.*76 others(61): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3986 | chr11 | TogoVar |