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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58355145 | CCT | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0006a0002c0002t0008 | a0001c0001t0002g0015 a0002c0002t0006g0016 a0002c0002t0008g0024 others(1): Show |
8 | 384 | 0.0208 | -2 | c.-17 others(13): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 1654 | chr19 | TogoVar | |||||||
A1BG_chr19_58340183_58358492 | 58358468 | AGT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00597.hp1 others(121): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(25): Show |
124 | 384 | 0.3229 | -2 | c.-50 others(13): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 4977 | chr19 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50844362 | AAT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0009a0001c0001t0015a0001c0001t0043others(4): Show | a0001c0001t0009g0028 a0001c0001t0009g0161 a0001c0001t0009g0162 others(9): Show |
13 | 336 | 0.0387 | -2 | c.100 others(17): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50851610 | GTC | G | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0009a0001c0001t0015a0001c0001t0043others(4): Show | a0001c0001t0009g0028 a0001c0001t0009g0161 a0001c0001t0009g0162 others(9): Show |
13 | 336 | 0.0387 | -2 | c.100 others(19): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50853750 | ATT | A | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG01891.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0015others(7): Show | a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 others(15): Show |
19 | 146 | 0.1301 | -2 | c.99+ others(17): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50872946 | CTT | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG02083.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0197 a0001c0001t0002g0009 a0001c0001t0002g0030 others(6): Show |
12 | 119 | 0.1008 | -2 | c.-93 others(19): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50876846 | TAC | T | intron_variant | MODIFIER | HG02886.hp2 HG03225.hp2 HG03540.hp2 |
a0001a0002 | a0001c0012a0002c0004 | a0001c0012t0035a0002c0004t0018 | a0001c0012t0035g0157 a0002c0004t0018g0040 a0002c0004t0018g0156 |
3 | 336 | 0.0089 | -2 | c.-94 others(19): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
A1CF_chr10_50794409_50890627 | 50889579 | CTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(172): Show |
219 | 291 | 0.7526 | -2 | c.-40 others(13): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3953 | chr10 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8837891 | GAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(298): Show |
308 | 356 | 0.8652 | -2 | c.855 others(17): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8843328 | AAG | A | frameshift_variant | HIGH | HG01884.hp2 HG02559.hp2 HG02965.hp1 others(7): Show |
a0007a0017 | a0007c0011a0007c0015a0017c0019 | a0007c0011t0002a0007c0015t0003a0007c0015t0004others(1): Show | a0007c0011t0002g0043 a0007c0011t0002g0076 a0007c0011t0002g0162 others(7): Show |
10 | 366 | 0.0273 | -2 | c.144 others(11): Show |
p.Ser others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | 1475/5127 | 1444/4365 | 482/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8847098 | CTT | C | intron_variant | MODIFIER | HG01074.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0005a0014a0026others(2): Show | a0005c0008a0014c0026a0026c0043others(2): Show | a0005c0008t0005a0014c0026t0002a0026c0043t0002others(2): Show | a0005c0008t0005g0161 a0014c0026t0002g0021 a0014c0026t0002g0024 others(3): Show |
6 | 244 | 0.0246 | -2 | c.168 others(19): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 14/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8856898 | CTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp1 others(5): Show |
a0003a0027a0029others(1): Show | a0003c0009a0003c0025a0003c0037others(4): Show | a0003c0009t0004a0003c0025t0004a0003c0037t0004others(4): Show | a0003c0009t0004g0092 a0003c0025t0004g0007 a0003c0037t0004g0122 others(4): Show |
8 | 54 | 0.1481 | -2 | c.284 others(19): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8863104 | CTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00738.hp1 others(59): Show |
a0001a0003a0009others(9): Show | a0001c0001a0001c0003a0003c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(18): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0046 others(57): Show |
62 | 92 | 0.6739 | -2 | c.350 others(19): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8863966 | GGC | G | frameshift_variant | HIGH | HG00280.hp2 HG00642.hp2 HG01496.hp1 others(8): Show |
a0004 | a0004c0006a0004c0052 | a0004c0006t0001a0004c0052t0001 | a0004c0006t0001g0002 a0004c0006t0001g0054 a0004c0006t0001g0056 others(7): Show |
11 | 366 | 0.0301 | -2 | c.367 others(11): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | 3707/5127 | 3676/4365 | 1226/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8869446 | GAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(95): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0031others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 others(93): Show |
98 | 366 | 0.2678 | -2 | c.422 others(19): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8871589 | AGG | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(13): Show |
a0003a0010a0015others(3): Show | a0003c0009a0003c0022a0003c0053others(6): Show | a0003c0009t0004a0003c0022t0004a0003c0053t0002others(6): Show | a0003c0009t0004g0156 a0003c0009t0004g0214 a0003c0009t0004g0236 others(13): Show |
16 | 366 | 0.0437 | -2 | c.422 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | chr12 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8872187 | GAA | G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
a0003a0010a0015others(2): Show | a0003c0009a0003c0022a0003c0053others(5): Show | a0003c0009t0004a0003c0022t0004a0003c0053t0002others(5): Show | a0003c0009t0004g0156 a0003c0009t0004g0214 a0003c0009t0004g0236 others(11): Show |
14 | 279 | 0.0502 | -2 | c.422 others(21): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9065151 | TCC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp1 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(94): Show |
114 | 151 | 0.7550 | -2 | c.*26 others(13): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 2556 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9084765 | CAT | C | intron_variant | MODIFIER | NA18962.hp1 NA18981.hp1 NA19083.hp1 |
a0001a0012 | a0001c0011a0012c0027 | a0001c0011t0001a0012c0027t0001 | a0001c0011t0001g0264 a0001c0011t0001g0266 a0012c0027t0001g0277 |
3 | 330 | 0.0091 | -2 | c.277 others(21): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 22/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9094340 | CAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(34): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(5): Show | a0001c0001t0001g0146 a0001c0001t0001g0183 a0001c0001t0001g0192 others(31): Show |
37 | 122 | 0.3033 | -2 | c.212 others(19): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 17/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9095742 | CTT | C | intron_variant | MODIFIER | HG00609.hp1 HG02056.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0149 a0001c0001t0001g0165 others(4): Show |
8 | 47 | 0.1702 | -2 | c.185 others(17): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9098430 | TTA | T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp2 others(49): Show |
a0001a0013a0014 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0002a0001c0003t0002a0001c0009t0002others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(40): Show |
52 | 320 | 0.1625 | -2 | c.185 others(19): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/35 | chr12 | TogoVar | |||||||
A2M_chr12_9062708_9120919 | 9120852 | CGT | C | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02258.hp1 HG02280.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0005t0002a0002c0002t0002 | a0001c0001t0002g0005 a0001c0001t0002g0055 a0001c0001t0002g0057 others(9): Show |
13 | 91 | 0.1429 | -2 | c.-50 others(13): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4934 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01346.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0019 others(5): Show |
13 | 212 | 0.0613 | -2 | c.336 others(19): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33308870 | CAT | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0151 |
3 | 416 | 0.0072 | -2 | c.336 others(19): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33314056 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG01515.hp2 HG02683.hp2 others(9): Show |
a0001a0009 | a0001c0001a0001c0014a0009c0011 | a0001c0001t0001a0001c0014t0001a0009c0011t0001 | a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0099 others(7): Show |
12 | 229 | 0.0524 | -2 | c.24- others(17): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33315380 | CAA | C | intron_variant | MODIFIER | HG01516.hp1 HG02896.hp2 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0068 a0001c0001t0001g0069 others(3): Show |
7 | 116 | 0.0603 | -2 | c.24- others(17): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42695210 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00741.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004a0002c0003t0008 | a0002c0003t0001g0012 a0002c0003t0001g0334 a0002c0003t0001g0355 others(6): Show |
10 | 404 | 0.0248 | -2 | c.-47 others(17): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42698246 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(238): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(17): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(229): Show |
241 | 253 | 0.9526 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42699104 | TTA | T | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02622.hp1 others(7): Show |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0001a0005c0006t0001 | a0002c0003t0001g0230 a0002c0003t0001g0245 a0002c0003t0001g0254 others(6): Show |
10 | 404 | 0.0248 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42702099 | GTC | G | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0018a0001c0001t0022others(3): Show | a0001c0001t0004g0234 a0001c0001t0004g0298 a0001c0001t0004g0380 others(11): Show |
15 | 403 | 0.0372 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703057 | CTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0025a0001c0002t0009others(5): Show | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0098 others(26): Show |
30 | 346 | 0.0867 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42703106 | CTG | C | intron_variant | MODIFIER | HG01081.hp2 HG02647.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(1): Show | a0001c0001t0002g0243 a0001c0001t0004g0392 a0001c0001t0022g0114 others(1): Show |
4 | 15 | 0.2667 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709048 | AAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0004g0234 others(29): Show |
33 | 391 | 0.0844 | -2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709067 | ATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0026others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(113): Show |
120 | 240 | 0.5000 | -2 | c.-18 others(23): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42712735 | CCT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG02027.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0306 a0001c0001t0002g0314 a0001c0001t0002g0318 others(8): Show |
12 | 404 | 0.0297 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42713810 | CAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(11): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(122): Show |
129 | 317 | 0.4069 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42714274 | CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02559.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0004a0001c0002t0011a0001c0007t0004others(3): Show | a0001c0001t0004g0263 a0001c0001t0004g0267 a0001c0002t0011g0276 others(9): Show |
12 | 135 | 0.0889 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42715839 | TTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(237): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(230): Show |
240 | 404 | 0.5941 | -2 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138122175 | GTA | G | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show |
6 | 396 | 0.0152 | -2 | c.*20 others(13): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1537 | chr3 | TogoVar | |||||||
A4GNT_chr3_138118713_138137390 | 138122188 | CGT | C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02896.hp2 others(4): Show |
a0001a0007 | a0001c0003a0007c0011 | a0001c0003t0003a0007c0011t0003 | a0001c0003t0003g0020 a0001c0003t0003g0021 a0007c0011t0003g0043 |
7 | 396 | 0.0177 | -2 | c.*20 others(13): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1524 | chr3 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53304813 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(312): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(165): Show |
315 | 328 | 0.9604 | -2 | c.*26 others(13): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2646 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53318245 | CGT | C | intron_variant | MODIFIER | HG02083.hp2 HG02135.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0046 |
7 | 209 | 0.0335 | -2 | c.251 others(19): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53323368 | CAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(241): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(127): Show |
244 | 265 | 0.9208 | -2 | c.-19 others(13): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1759 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125062916 | CGT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(121): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(118): Show |
124 | 189 | 0.6561 | -2 | c.-26 others(13): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2518 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125071879 | CAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(81): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0030 others(79): Show |
84 | 362 | 0.2320 | -2 | c.134 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125072919 | GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(171): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0028 others(168): Show |
174 | 243 | 0.7160 | -2 | c.134 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125078820 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(65): Show |
a0001a0005a0009 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0279 others(64): Show |
68 | 159 | 0.4277 | -2 | c.358 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01515.hp2 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0338 others(16): Show |
19 | 35 | 0.5429 | -2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107034 | CAG | C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0068 others(5): Show |
8 | 362 | 0.0221 | -2 | c.768 others(15): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |