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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42720662 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720663 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720664 | T | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720665 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720668 | C | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720672 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720679 | C | T | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720680 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720681 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720689 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720691 | C | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720697 | G | A | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(8): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720705 | C | A | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720706 | C | A | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720713 | T | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720719 | G | A | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720722 | G | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720723 | C | T | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720724 | C | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720725 | T | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720728 | T | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720729 | C | A | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720730 | C | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720732 | C | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720733 | A | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720735 | T | G | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720755 | T | C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0395 | 1 | 406 | 0.0025 | 0 | c.-18 others(7): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138124961 | C | G | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0016 | 4 | 398 | 0.0101 | 0 | c.409 others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125341 | T | C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 398 | 0.0025 | 0 | c.409 others(7): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125388 | A | G | intron_variant | MODIFIER | HG01433.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 2 | 398 | 0.0050 | 0 | c.409 others(7): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125435 | A | T | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0136 | 1 | 398 | 0.0025 | 0 | c.409 others(7): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125587 | T | C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 398 | 0.0025 | 0 | c.409 others(7): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125774 | T | C | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0048 | 1 | 398 | 0.0025 | 0 | c.409 others(7): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125801 | AG | A | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003a0002c0002t0006 | a0001c0003t0003g0049a0002c0002t0003g0045a0002c0002t0006g0017others(2): Show | 7 | 398 | 0.0176 | -1 | c.409 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125803 | G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(142): Show | 213 | 398 | 0.5352 | 0 | c.409 others(7): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125879 | A | G | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG03041.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0145a0002c0002t0006g0017a0002c0002t0006g0047 | 5 | 398 | 0.0126 | 0 | c.409 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125895 | A | G | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0082 | 3 | 398 | 0.0075 | 0 | c.409 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126075 | G | A | intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0051 | 1 | 398 | 0.0025 | 0 | c.409 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126354 | A | G | intron_variant | MODIFIER | HG01496.hp1 HG02723.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0184others(1): Show | 5 | 398 | 0.0126 | 0 | c.409 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2769): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 398 | 0.0025 | 2776 | c.409 others(2793): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2768): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 398 | 0.0025 | 2775 | c.409 others(2792): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2769): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 398 | 0.0050 | 2776 | c.409 others(2793): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2769): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 398 | 0.0025 | 2776 | c.409 others(2793): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2754): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 398 | 0.0025 | 2761 | c.409 others(2778): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2756): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0161 | 2 | 398 | 0.0050 | 2763 | c.409 others(2780): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2764): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 398 | 0.0025 | 2771 | c.409 others(2788): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 398 | 0.0025 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 398 | 0.0025 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2760): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 398 | 0.0025 | 2767 | c.409 others(2784): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138126527 | T | TAAAAATT others(2761): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 398 | 0.0025 | 2768 | c.409 others(2785): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar |