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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0A4_chr7_138701294_138803196 | 138707126 | T | TATCATAT others(16): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 376 | 0.0027 | 23 | c.243 others(40): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 21/21 | chr7 | TogoVar | ||||||
ATP6V0A4_chr7_138701294_138803196 | 138737113 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 376 | 0.0027 | 23 | c.157 others(42): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173024370 | G | GTTGTGTT others(16): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0201a0001c0001t0006g0202a0001c0001t0006g0203 | 3 | 292 | 0.0103 | 23 | c.*36 others(40): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V1E1_chr22_17587136_17633749 | 17631706 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 370 | 0.0027 | 23 | c.-30 others(34): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2958 | chr22 | TogoVar | ||||||
ATP6V1F_chr7_128857856_128870847 | 128869564 | G | GGAACGCC others(16): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 442 | 0.0023 | 23 | c.*39 others(34): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 3718 | chr7 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78049410 | C | CAACCATG others(16): Show |
3_prime_UTR_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0073 | 1 | 233 | 0.0043 | 23 | c.*28 others(34): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 2867 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0016 | a0009c0016t0005 | a0009c0016t0005g0269 | 1 | 302 | 0.0033 | 23 | c.244 others(42): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01169.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0061others(16): Show | 19 | 310 | 0.0613 | 23 | c.295 others(40): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25528743 | T | TTGTGTAT others(16): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02015.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0059a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0059g0022a0001c0003t0001g0106a0001c0003t0002g0108others(8): Show | 11 | 122 | 0.0902 | 23 | c.222 others(40): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25528846 | C | CACATATG others(16): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 122 | 0.0082 | 23 | c.222 others(40): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0033 | a0001c0008t0033g0075 | 1 | 122 | 0.0082 | 23 | c.318 others(44): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19009.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0016 | a0001c0001t0001g0012a0001c0005t0016g0056 | 2 | 314 | 0.0064 | 23 | c.163 others(42): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(16): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0183 | 1 | 314 | 0.0032 | 23 | c.182 others(40): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 314 | 0.0032 | 23 | c.-25 others(42): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50029255 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02970.hp2 HG03492.hp2 others(1): Show |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0001a0003c0003t0003a0008c0008t0005 | a0003c0003t0001g0224a0003c0003t0003g0141a0003c0003t0003g0234others(1): Show | 4 | 254 | 0.0158 | 23 | c.362 others(40): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02486.hp1 HG02630.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0016a0001c0003t0015 | a0001c0002t0005g0054a0001c0002t0016g0053a0001c0003t0015g0121 | 3 | 312 | 0.0096 | 23 | c.328 others(40): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0037 | a0001c0001t0001a0001c0004t0003a0001c0037t0003 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(4): Show | 7 | 298 | 0.0235 | 23 | c.119 others(40): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79339254 | A | ATGTCATG others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(274): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(274): Show | 277 | 298 | 0.9295 | 23 | c.228 others(42): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF2_chr17_18013021_18044168 | 18019186 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 328 | 0.0031 | 23 | c.733 others(38): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02300.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(5): Show | a0001c0001t0002g0113a0001c0001t0011g0112a0001c0001t0014g0001others(5): Show | 8 | 128 | 0.0625 | 23 | c.317 others(44): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115403257 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0013 | a0001c0001t0008g0030a0001c0006t0013g0029 | 2 | 128 | 0.0156 | 23 | c.326 others(42): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0035a0001c0001t0036others(6): Show | a0001c0001t0001g0070a0001c0001t0001g0105a0001c0001t0035g0118others(7): Show | 10 | 128 | 0.0781 | 23 | c.390 others(44): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02015.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0069a0001c0012t0001g0071 | 2 | 128 | 0.0156 | 23 | c.401 others(42): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115882690 | T | TGGAGAAT others(16): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0044 | a0002c0008t0044g0063 | 1 | 128 | 0.0078 | 23 | c.401 others(44): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3485610 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0193 | 1 | 220 | 0.0046 | 23 | c.410 others(42): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0159 | 1 | 218 | 0.0046 | 23 | c.621 others(42): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16440649 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20300.hp2 |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0070a0005c0006t0003g0114 | 2 | 182 | 0.0110 | 23 | c.-16 others(44): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18985.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0073 | 2 | 298 | 0.0067 | 23 | c.251 others(40): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0026others(58): Show | 61 | 252 | 0.2421 | 23 | c.355 others(42): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70053544 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01934.hp2 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0005c0011t0007 | a0001c0001t0001g0071a0001c0001t0003g0068a0005c0011t0007g0004 | 3 | 76 | 0.0395 | 23 | c.523 others(42): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 70579244 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0033 | a0001c0001t0001g0044a0002c0010t0033g0014 | 2 | 76 | 0.0263 | 23 | c.691 others(44): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02723.hp2 NA18988.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0111a0001c0001t0004g0143a0002c0002t0001g0062others(1): Show | 4 | 266 | 0.0150 | 23 | c.446 others(42): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 372 | 0.0027 | 23 | c.-20 others(38): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
AXDND1_chr1_179360971_179559735 | 179419607 | A | AGAGAGGG others(16): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 356 | 0.0028 | 23 | c.123 others(42): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG01928.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107a0001c0002t0001g0128a0001c0002t0001g0132others(3): Show | 6 | 356 | 0.0169 | 23 | c.209 others(42): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 285839 | T | TCCCAACC others(16): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01261.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0013a0001c0004t0026others(1): Show | a0001c0001t0001g0329a0001c0001t0001g0332a0001c0003t0013g0059others(4): Show | 7 | 378 | 0.0185 | 23 | c.*22 others(34): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1600 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285871 | G | GGCGGTTC others(16): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 378 | 0.0027 | 23 | c.*22 others(34): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1568 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 285983 | T | TCCCAACC others(16): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0005 | a0005c0032 | a0005c0032t0010 | a0005c0032t0010g0026 | 1 | 378 | 0.0027 | 23 | c.*21 others(34): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1456 | chr16 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 286015 | C | CGCGGTTC others(16): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02258.hp2 HG04184.hp2 |
a0001a0003 | a0001c0002a0001c0003a0003c0008 | a0001c0002t0005a0001c0003t0003a0003c0008t0007 | a0001c0002t0005g0075a0001c0003t0003g0207a0003c0008t0007g0272 | 3 | 378 | 0.0079 | 23 | c.*21 others(34): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1424 | chr16 | TogoVar | ||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0215a0001c0001t0036g0216 | 2 | 314 | 0.0064 | 23 | c.*40 others(32): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 268 | 0.0037 | 23 | c.-38 others(34): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02818.hp2 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0014a0007c0009t0002 | a0001c0001t0014g0186a0007c0009t0002g0264 | 2 | 268 | 0.0075 | 23 | c.-38 others(34): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0113 | 2 | 268 | 0.0075 | 23 | c.-38 others(34): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 HG03834.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003 | a0001c0001t0005g0198a0002c0002t0003g0078 | 2 | 268 | 0.0075 | 23 | c.-38 others(34): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31253595 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01106.hp2 HG03139.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0012a0002c0011t0004 | a0002c0002t0012g0176a0002c0011t0004g0181 | 2 | 268 | 0.0075 | 23 | c.459 others(40): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
B3GLCT_chr13_31194975_31337276 | 31308362 | A | ACAAAAAC others(16): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18963.hp1 NA18997.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0013a0002c0002t0009g0210a0002c0002t0009g0211others(1): Show | 4 | 268 | 0.0149 | 23 | c.106 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31316431 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0208 | 1 | 268 | 0.0037 | 23 | c.106 others(42): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0227a0001c0001t0001g0228 | 4 | 390 | 0.0103 | 23 | c.-30 others(40): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82970548 | C | CCAGCGTG others(16): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01192.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0036others(2): Show | a0001c0001t0002g0064a0001c0001t0002g0152a0001c0001t0004g0238others(5): Show | 8 | 266 | 0.0301 | 23 | c.460 others(40): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82984480 | G | GGGGAGAG others(16): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(45): Show | a0001c0001t0002g0058a0001c0001t0002g0178a0001c0001t0004g0242others(90): Show | 98 | 266 | 0.3684 | 23 | c.460 others(42): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar |