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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B3GALT1_chr2_167288001_167879045 | 167579432 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0098others(34): Show | 37 | 118 | 0.3136 | 7 | c.-40 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT1_chr2_167288001_167879045 | 167769605 | G | GTCTCTGT | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0032a0001c0001t0001g0046others(17): Show | 20 | 118 | 0.1695 | 7 | c.-35 others(28): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
B3GALT2_chr1_193173730_193191613 | 193177358 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG00741.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0014others(10): Show | 35 | 398 | 0.0879 | 7 | c.*29 others(18): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 1371 | chr1 | TogoVar | ||||||
B3GALT2_chr1_193173730_193191613 | 193187102 | T | TCCCCCCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(5): Show | 42 | 398 | 0.1055 | 7 | c.-12 others(18): Show |
B3GALT2 | ENSG00000162630.6 | transcript | ENST00000367434.5 | protein_coding | 490 | chr1 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39613082 | T | TGGGGCGC | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01106.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(19): Show | a0001c0001t0002g0005a0001c0001t0002g0300a0001c0001t0002g0301others(26): Show | 30 | 336 | 0.0893 | 7 | c.-39 others(22): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
B3GAT1_chr11_134373508_134417242 | 134412108 | G | GGGGAGGT | 5_prime_UTR_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0006g0002a0001c0001t0006g0032a0001c0001t0006g0034others(25): Show | 29 | 352 | 0.0824 | 7 | c.-58 others(16): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/6 | 24450 | chr11 | TogoVar | |||||
B3GAT3_chr11_62610296_62626986 | 62619699 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp2 others(52): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(16): Show | 55 | 290 | 0.1897 | 7 | c.257 others(22): Show |
B3GAT3 | ENSG00000149541.10 | transcript | ENST00000265471.10 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17791966 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00642.hp2 others(86): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0005a0001c0001t0002g0007a0001c0001t0002g0036others(72): Show | 89 | 406 | 0.2192 | 7 | c.-32 others(18): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 3171 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17792577 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01175.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0003g0271a0001c0001t0010g0044a0001c0001t0013g0153others(6): Show | 10 | 406 | 0.0246 | 7 | c.-26 others(18): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 2560 | chr19 | TogoVar | ||||||
B3GNT3_chr19_17790138_17818576 | 17804533 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(91): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0199a0001c0001t0002g0014a0001c0001t0002g0015others(75): Show | 94 | 406 | 0.2315 | 7 | c.-50 others(24): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
B3GNT3_chr19_17790138_17818576 | 17817795 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01070.hp1 others(35): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0140a0001c0001t0002g0143a0001c0001t0002g0222others(31): Show | 38 | 406 | 0.0936 | 7 | c.*56 others(18): Show |
B3GNT3 | ENSG00000179913.11 | transcript | ENST00000318683.7 | protein_coding | 4220 | chr19 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83002922 | C | CTCCGCAG | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00741.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0004g0227a0001c0001t0006g0153a0001c0001t0006g0159others(31): Show | 34 | 266 | 0.1278 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83002997 | C | CACTCTCT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG00741.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(17): Show | a0001c0001t0004g0227a0001c0001t0006g0153a0001c0001t0006g0159others(30): Show | 33 | 266 | 0.1241 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003033 | C | CACTCTCT | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02080.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(4): Show | a0001c0001t0002g0174a0001c0001t0002g0183a0001c0001t0019g0181others(5): Show | 8 | 266 | 0.0301 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003110 | C | CCCACTCT | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0001others(1): Show | a0001c0001t0002g0178a0001c0001t0017g0177a0001c0011t0001g0144others(2): Show | 5 | 266 | 0.0188 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003262 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(8): Show | a0001c0001t0002g0058a0001c0001t0002g0183a0001c0001t0019g0181others(12): Show | 15 | 266 | 0.0564 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003266 | C | CTCCGCAG | intron_variant | MODIFIER | HG02818.hp2 NA19043.hp1 NA19043.hp2 |
a0001a0002a0003 | a0001c0006a0002c0010a0003c0030 | a0001c0006t0001a0002c0010t0007a0003c0030t0011 | a0001c0006t0001g0016a0002c0010t0007g0222a0003c0030t0011g0140 | 3 | 266 | 0.0113 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003341 | C | CACTCTCT | intron_variant | MODIFIER | HG02155.hp1 NA18973.hp1 NA19012.hp2 |
a0001 | a0001c0007a0001c0016 | a0001c0007t0005a0001c0016t0001 | a0001c0007t0005g0229a0001c0016t0001g0008a0001c0016t0001g0009 | 3 | 266 | 0.0113 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003463 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(5): Show | a0001c0001t0002g0058a0001c0001t0032g0162a0001c0002t0002g0086others(7): Show | 10 | 266 | 0.0376 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003714 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01243.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0017others(10): Show | a0001c0001t0002g0058a0001c0001t0002g0178a0001c0001t0012g0148others(15): Show | 18 | 266 | 0.0677 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003750 | C | CACTCTCT | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp2 NA19012.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0039a0001c0007t0005 | a0001c0001t0002g0133a0001c0001t0039g0260a0001c0007t0005g0229 | 3 | 266 | 0.0113 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003915 | C | CACTCTCT | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0006a0001c0007t0005a0001c0008t0005 | a0001c0001t0006g0153a0001c0001t0006g0159a0001c0001t0006g0182others(2): Show | 5 | 266 | 0.0188 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003919 | C | CTCCGCAG | intron_variant | MODIFIER | HG01261.hp2 HG02135.hp2 NA18945.hp2 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0009a0001c0002t0006a0001c0008t0038 | a0001c0001t0009g0232a0001c0002t0006g0071a0001c0008t0038g0215 | 3 | 266 | 0.0113 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003994 | C | CACTCTCT | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0004t0031others(2): Show | a0001c0001t0002g0178a0001c0001t0017g0177a0001c0004t0031g0035others(3): Show | 6 | 266 | 0.0226 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004113 | C | CTCCGCAG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(71): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(68): Show | 74 | 266 | 0.2782 | 7 | c.459 others(24): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004188 | C | CACTCTCT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(74): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(71): Show | 77 | 266 | 0.2895 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004192 | C | CTCCGCAG | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp1 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0030 | a0001c0001t0009a0001c0006t0001a0001c0006t0002others(3): Show | a0001c0001t0009g0231a0001c0006t0001g0016a0001c0006t0002g0031others(3): Show | 6 | 266 | 0.0226 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004265 | C | CCCACTCT | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0001others(2): Show | a0001c0001t0002g0178a0001c0001t0017g0177a0001c0011t0001g0144others(3): Show | 6 | 266 | 0.0226 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004267 | C | CACTCTCT | intron_variant | MODIFIER | HG02004.hp2 HG02572.hp1 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0030 | a0001c0001t0001a0001c0001t0009a0001c0006t0001others(3): Show | a0001c0001t0001g0166a0001c0001t0009g0231a0001c0006t0001g0016others(3): Show | 6 | 266 | 0.0226 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004271 | C | CTCTGCAG | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp1 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0168others(69): Show | 75 | 266 | 0.2820 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004350 | C | CTCTGCAG | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00621.hp2 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(26): Show | a0001c0001t0002g0174a0001c0001t0002g0183a0001c0001t0004g0227others(41): Show | 46 | 266 | 0.1729 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004425 | C | CACTCTCT | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00735.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(23): Show | a0001c0001t0002g0174a0001c0001t0002g0183a0001c0001t0004g0227others(38): Show | 43 | 266 | 0.1617 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83004508 | C | CTCTGCGG | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0013 | a0001c0001t0010a0001c0006t0002a0001c0006t0008others(2): Show | a0001c0001t0010g0185a0001c0006t0002g0031a0001c0006t0008g0020others(2): Show | 5 | 266 | 0.0188 | 7 | c.459 others(22): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 474947 | C | CAAAAAAA | intron_variant | MODIFIER | HG02080.hp1 HG02109.hp1 HG02559.hp2 others(18): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0243a0001c0001t0002g0126a0001c0001t0008g0244others(18): Show | 21 | 394 | 0.0533 | 7 | c.169 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00558.hp1 others(40): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0069a0001c0001t0001g0096others(40): Show | 43 | 394 | 0.1091 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511195 | A | ATTTTTGT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0069others(53): Show | 56 | 394 | 0.1421 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511367 | A | ACCTTCCG | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02109.hp2 others(16): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0012a0001c0001t0028a0001c0001t0055others(16): Show | a0001c0001t0012g0260a0001c0001t0028g0208a0001c0001t0055g0181others(16): Show | 19 | 394 | 0.0482 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511406 | T | TCCTTCCA | intron_variant | MODIFIER | HG01934.hp2 NA18942.hp1 NA19058.hp1 others(1): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0011 | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0003g0152a0001c0001t0008g0244a0001c0002t0001g0220others(1): Show | 4 | 394 | 0.0102 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511455 | T | TCTTCCAC | intron_variant | MODIFIER | HG01346.hp2 HG02723.hp1 HG03209.hp1 others(2): Show |
a0001a0003a0006 | a0001c0048a0003c0004a0006c0007others(1): Show | a0001c0048t0044a0003c0004t0038a0003c0004t0066others(2): Show | a0001c0048t0044g0394a0003c0004t0038g0284a0003c0004t0066g0309others(2): Show | 5 | 394 | 0.0127 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511679 | G | GCCTTCCA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02145.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0013a0002c0003others(5): Show | a0001c0002t0013a0001c0013t0002a0002c0003t0090others(6): Show | a0001c0002t0013g0175a0001c0013t0002g0177a0002c0003t0090g0143others(8): Show | 11 | 394 | 0.0279 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 511812 | T | TCTTCCAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(164): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0010others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0021a0001c0001t0001g0033a0001c0001t0001g0069others(164): Show | 167 | 394 | 0.4239 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512084 | G | GACCTTCC | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0062others(12): Show | a0001c0001t0002g0054a0001c0001t0016g0282a0001c0001t0062g0382others(12): Show | 15 | 394 | 0.0381 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512269 | T | TCTTCCAC | intron_variant | MODIFIER | HG00438.hp2 HG02074.hp2 HG02080.hp1 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(12): Show | a0001c0001t0001g0248a0001c0001t0001g0262a0001c0001t0002g0336others(13): Show | 16 | 394 | 0.0406 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512293 | T | TCTTCCAC | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00738.hp2 others(90): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(58): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0015others(90): Show | 93 | 394 | 0.2360 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512402 | G | GACCTTCC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01106.hp1 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0020others(29): Show | a0001c0001t0001g0116a0001c0001t0001g0223a0001c0001t0006g0065others(34): Show | 37 | 394 | 0.0939 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512553 | G | GACCTTCC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(52): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0069others(52): Show | 55 | 394 | 0.1396 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 512593 | G | GCTTCCAC | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01884.hp1 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0013others(9): Show | a0001c0001t0016a0001c0001t0028a0001c0001t0087others(13): Show | a0001c0001t0016g0179a0001c0001t0028g0048a0001c0001t0087g0190others(16): Show | 19 | 394 | 0.0482 | 7 | c.170 others(26): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 554750 | A | ACAGCAGT | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0087a0001c0013t0001a0001c0013t0002others(1): Show | a0001c0001t0087g0190a0001c0013t0001g0128a0001c0013t0002g0177others(1): Show | 4 | 394 | 0.0102 | 7 | c.206 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT3_chr12_454939_568509 | 554752 | T | TGCAGTCC | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00642.hp1 others(84): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0010a0001c0039others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0021a0001c0001t0001g0034a0001c0001t0001g0096others(84): Show | 87 | 394 | 0.2208 | 7 | c.206 others(24): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 369514 | C | CTCCGCGG | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01074.hp2 others(21): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0002others(8): Show | a0001c0001t0002g0100a0001c0001t0004g0013a0001c0003t0002g0169others(21): Show | 24 | 184 | 0.1304 | 7 | c.-29 others(16): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/20 | 289 | chr11 | TogoVar |