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 | 58350497 | G | T | synonymous_variant | LOW | NA18939.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0055 | 1 | 384 | 0.0026 | 0 | c.106 others(4): Show |
p.Thr others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/8 | 1120/3382 | 1065/1488 | 355/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58353016 | C | T | synonymous_variant | LOW | HG03239.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0035 | 1 | 384 | 0.0026 | 0 | c.252 others(3): Show |
p.Thr others(5): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 3/8 | 307/3382 | 252/1488 | 84/495 | chr19 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50806834 | G | C | synonymous_variant | LOW | HG00280.hp2 HG00558.hp2 HG01346.hp1 others(17): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007a0001c0003t0047 | a0001c0003t0001g0010 a0001c0003t0001g0027 a0001c0003t0001g0073 others(14): Show |
20 | 336 | 0.0595 | 0 | c.165 others(4): Show |
p.Leu others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | 1796/9221 | 1656/1761 | 552/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50809991 | C | T | synonymous_variant | LOW | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0250 a0001c0009t0004g0251 |
2 | 336 | 0.0060 | 0 | c.151 others(4): Show |
p.Thr others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 12/13 | 1652/9221 | 1512/1761 | 504/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50813938 | G | A | synonymous_variant | LOW | HG00423.hp2 HG00597.hp2 HG00621.hp1 others(35): Show |
a0001 | a0001c0002a0001c0009a0001c0012 | a0001c0002t0004a0001c0002t0013a0001c0009t0004others(1): Show | a0001c0002t0004g0002 a0001c0002t0004g0020 a0001c0002t0004g0021 others(28): Show |
38 | 336 | 0.1131 | 0 | c.124 others(4): Show |
p.Leu others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 10/13 | 1382/9221 | 1242/1761 | 414/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50816244 | T | G | synonymous_variant | LOW | NA18946.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0186 | 1 | 336 | 0.0030 | 0 | c.903 others(3): Show |
p.Ala others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 9/13 | 1043/9221 | 903/1761 | 301/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50836093 | C | T | synonymous_variant | LOW | HG02451.hp2 HG02897.hp2 NA18906.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0006 | a0001c0008t0001a0001c0008t0017a0002c0006t0006 | a0001c0008t0001g0045 a0001c0008t0017g0049 a0002c0006t0006g0051 others(2): Show |
5 | 336 | 0.0149 | 0 | c.585 others(3): Show |
p.Ala others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/13 | 725/9221 | 585/1761 | 195/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50836150 | G | T | synonymous_variant | LOW | HG02258.hp2 HG03516.hp2 |
a0001 | a0001c0007 | a0001c0007t0005a0001c0007t0034 | a0001c0007t0005g0242 a0001c0007t0034g0243 |
2 | 336 | 0.0060 | 0 | c.528 others(3): Show |
p.Thr others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/13 | 668/9221 | 528/1761 | 176/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50836216 | C | T | synonymous_variant | LOW | HG02559.hp1 HG02717.hp1 HG03453.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0024a0001c0005t0048 | a0001c0005t0001g0205 a0001c0005t0024g0206 a0001c0005t0048g0207 |
3 | 336 | 0.0089 | 0 | c.462 others(3): Show |
p.Ser others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/13 | 602/9221 | 462/1761 | 154/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50859911 | T | G | synonymous_variant | LOW | HG03225.hp2 | a0001 | a0001c0012 | a0001c0012t0035 | a0001c0012t0035g0157 | 1 | 336 | 0.0030 | 0 | c.30A others(2): Show |
p.Gly others(5): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 3/13 | 170/9221 | 30/1761 | 10/586 | chr10 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8823305 | C | T | synonymous_variant | LOW | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0005a0001c0050others(11): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(15): Show | a0001c0003t0001g0004 a0001c0003t0001g0227 a0001c0003t0001g0238 others(53): Show |
57 | 366 | 0.1557 | 0 | c.186 others(3): Show |
p.Thr others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 217/5127 | 186/4365 | 62/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8823315 | C | T | synonymous_variant | LOW | NA21309.hp2 | a0001 | a0001c0049 | a0001c0049t0002 | a0001c0049t0002g0070 | 1 | 366 | 0.0027 | 0 | c.196 others(3): Show |
p.Leu others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 227/5127 | 196/4365 | 66/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8823359 | C | A | synonymous_variant | LOW | NA18956.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0186 | 1 | 366 | 0.0027 | 0 | c.240 others(3): Show |
p.Ser others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 271/5127 | 240/4365 | 80/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8835656 | G | A | synonymous_variant | LOW | HG01261.hp2 HG02717.hp1 NA20300.hp2 |
a0003 | a0003c0022a0003c0034 | a0003c0022t0001a0003c0022t0004a0003c0034t0002 | a0003c0022t0001g0220 a0003c0022t0004g0218 a0003c0034t0002g0012 |
3 | 366 | 0.0082 | 0 | c.633 others(3): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/36 | 664/5127 | 633/4365 | 211/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8841389 | T | C | synonymous_variant | LOW | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(9): Show |
a0007a0011a0030 | a0007c0011a0007c0015a0011c0010others(1): Show | a0007c0011t0002a0007c0015t0003a0007c0015t0004others(3): Show | a0007c0011t0002g0043 a0007c0011t0002g0076 a0007c0011t0002g0162 others(9): Show |
12 | 366 | 0.0328 | 0 | c.110 others(4): Show |
p.Asp others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/36 | 1132/5127 | 1101/4365 | 367/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8843160 | A | G | synonymous_variant | LOW | HG00639.hp2 HG01255.hp1 HG01261.hp1 others(7): Show |
a0002 | a0002c0007a0002c0059 | a0002c0007t0003a0002c0059t0003 | a0002c0007t0003g0001 a0002c0007t0003g0049 a0002c0007t0003g0078 others(5): Show |
10 | 366 | 0.0273 | 0 | c.127 others(4): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | 1306/5127 | 1275/4365 | 425/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8847551 | T | G | splice_region_variant others(1): Show |
LOW | HG03225.hp2 NA21309.hp1 |
a0001a0014 | a0001c0050a0014c0035 | a0001c0050t0004a0014c0035t0002 | a0001c0050t0004g0313 a0014c0035t0002g0213 |
2 | 366 | 0.0055 | 0 | c.168 others(4): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/36 | 1717/5127 | 1686/4365 | 562/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8851844 | G | A | synonymous_variant | LOW | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001a0003a0013others(1): Show | a0001c0038a0003c0037a0013c0020others(1): Show | a0001c0038t0001a0003c0037t0004a0013c0020t0007others(1): Show | a0001c0038t0001g0235 a0003c0037t0004g0122 a0013c0020t0007g0017 others(3): Show |
6 | 366 | 0.0164 | 0 | c.229 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2326/5127 | 2295/4365 | 765/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8851916 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(331): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(324): Show |
334 | 366 | 0.9126 | 0 | c.236 others(4): Show |
p.Pro others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2398/5127 | 2367/4365 | 789/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8854243 | C | T | synonymous_variant | LOW | HG03927.hp1 | a0001 | a0001c0056 | a0001c0056t0002 | a0001c0056t0002g0332 | 1 | 366 | 0.0027 | 0 | c.270 others(4): Show |
p.Leu others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/36 | 2737/5127 | 2706/4365 | 902/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8857183 | C | T | synonymous_variant | LOW | HG01192.hp1 | a0003 | a0003c0042 | a0003c0042t0004 | a0003c0042t0004g0343 | 1 | 366 | 0.0027 | 0 | c.286 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 24/36 | 2899/5127 | 2868/4365 | 956/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8858075 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(68): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(17): Show | a0001c0001t0001g0298 a0001c0001t0001g0337 a0001c0001t0003g0003 others(64): Show |
71 | 366 | 0.1940 | 0 | c.323 others(4): Show |
p.Val others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 26/36 | 3268/5127 | 3237/4365 | 1079/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8867967 | T | C | synonymous_variant | LOW | HG01167.hp2 HG01168.hp1 HG01169.hp1 others(19): Show |
a0003a0010a0015others(3): Show | a0003c0009a0003c0022a0003c0025others(9): Show | a0003c0009t0004a0003c0022t0001a0003c0022t0004others(10): Show | a0003c0009t0004g0092 a0003c0009t0004g0156 a0003c0009t0004g0214 others(18): Show |
22 | 366 | 0.0601 | 0 | c.384 others(4): Show |
p.Val others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3874/5127 | 3843/4365 | 1281/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8868316 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(239): Show |
a0001a0002a0004others(16): Show | a0001c0001a0001c0003a0001c0031others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(233): Show |
242 | 366 | 0.6612 | 0 | c.402 others(4): Show |
p.Gln others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 31/36 | 4051/5127 | 4020/4365 | 1340/1454 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9074626 | A | G | synonymous_variant | LOW | NA18962.hp1 NA18981.hp1 NA19083.hp1 |
a0001a0012 | a0001c0011a0012c0027 | a0001c0011t0001a0012c0027t0001 | a0001c0011t0001g0264 a0001c0011t0001g0266 a0012c0027t0001g0277 |
3 | 330 | 0.0091 | 0 | c.369 others(4): Show |
p.Ser others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 29/36 | 3760/4610 | 3690/4425 | 1230/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9076832 | A | G | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0039 | 1 | 330 | 0.0030 | 0 | c.345 others(4): Show |
p.Tyr others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 28/36 | 3526/4610 | 3456/4425 | 1152/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9079273 | C | T | synonymous_variant | LOW | HG00639.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0076 | 1 | 330 | 0.0030 | 0 | c.309 others(4): Show |
p.Glu others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/36 | 3160/4610 | 3090/4425 | 1030/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9080170 | C | T | synonymous_variant | LOW | HG03688.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0258 | 1 | 330 | 0.0030 | 0 | c.277 others(4): Show |
p.Glu others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 23/36 | 2848/4610 | 2778/4425 | 926/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9089962 | C | T | synonymous_variant | LOW | HG03669.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0236 | 1 | 330 | 0.0030 | 0 | c.265 others(4): Show |
p.Glu others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 21/36 | 2728/4610 | 2658/4425 | 886/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9090420 | C | T | synonymous_variant | LOW | HG01169.hp2 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001a0002a0016 | a0001c0015a0002c0010a0016c0016 | a0001c0015t0002a0002c0010t0002a0016c0016t0002 | a0001c0015t0002g0040 a0002c0010t0002g0138 a0002c0010t0002g0140 others(1): Show |
4 | 330 | 0.0121 | 0 | c.253 others(4): Show |
p.Ala others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 20/36 | 2602/4610 | 2532/4425 | 844/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9098613 | C | T | synonymous_variant | LOW | HG02145.hp2 HG03540.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0082 a0001c0009t0002g0083 |
2 | 330 | 0.0061 | 0 | c.184 others(4): Show |
p.Ala others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/36 | 1915/4610 | 1845/4425 | 615/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9101630 | C | T | synonymous_variant | LOW | HG02559.hp2 HG02622.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0019 a0001c0005t0002g0134 a0001c0005t0002g0135 others(3): Show |
7 | 330 | 0.0212 | 0 | c.131 others(4): Show |
p.Val others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/36 | 1381/4610 | 1311/4425 | 437/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9101645 | G | A | synonymous_variant | LOW | HG00639.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0003a0001c0021 | a0001c0003t0002a0001c0021t0002 | a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0048 others(5): Show |
12 | 330 | 0.0364 | 0 | c.129 others(4): Show |
p.Tyr others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/36 | 1366/4610 | 1296/4425 | 432/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9104350 | G | A | synonymous_variant | LOW | HG03130.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0039 | 1 | 330 | 0.0030 | 0 | c.115 others(4): Show |
p.Phe others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 11/36 | 1225/4610 | 1155/4425 | 385/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9112420 | G | C | synonymous_variant | LOW | HG01074.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0219 | 1 | 330 | 0.0030 | 0 | c.387 others(3): Show |
p.Val others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 3/36 | 457/4610 | 387/4425 | 129/1474 | chr12 | TogoVar | |||
A3GALT2_chr1_33301766_33326098 | 33307279 | T | C | synonymous_variant | LOW | HG02886.hp1 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0168 a0001c0006t0001g0208 |
2 | 416 | 0.0048 | 0 | c.510 others(3): Show |
p.Gln others(6): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 5/5 | 510/1023 | 510/1023 | 170/340 | chr1 | TogoVar | |||
A3GALT2_chr1_33301766_33326098 | 33312539 | G | A | synonymous_variant | LOW | HG03516.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0059 | 1 | 416 | 0.0024 | 0 | c.159 others(3): Show |
p.Ser others(5): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 3/5 | 159/1023 | 159/1023 | 53/340 | chr1 | TogoVar | |||
A3GALT2_chr1_33301766_33326098 | 33312563 | G | A | synonymous_variant | LOW | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0123 | 1 | 416 | 0.0024 | 0 | c.135 others(3): Show |
p.Gly others(5): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 3/5 | 135/1023 | 135/1023 | 45/340 | chr1 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42692965 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show |
a0002a0005a0006 | a0002c0003a0002c0008a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(4): Show | a0002c0003t0001g0005 a0002c0003t0001g0010 a0002c0003t0001g0011 others(111): Show |
119 | 404 | 0.2946 | 0 | c.987 others(3): Show |
p.Thr others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 1248/2092 | 987/1062 | 329/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693022 | G | A | synonymous_variant | LOW | HG02738.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0293 | 1 | 404 | 0.0025 | 0 | c.930 others(3): Show |
p.Ala others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 1191/2092 | 930/1062 | 310/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693049 | G | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(279): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(270): Show |
282 | 404 | 0.6980 | 0 | c.903 others(3): Show |
p.Pro others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 1164/2092 | 903/1062 | 301/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693283 | G | A | synonymous_variant | LOW | HG02145.hp2 HG02280.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0112 a0002c0008t0001g0270 a0002c0008t0001g0339 others(1): Show |
4 | 404 | 0.0099 | 0 | c.669 others(3): Show |
p.Phe others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 930/2092 | 669/1062 | 223/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693394 | G | A | synonymous_variant | LOW | HG01069.hp1 HG01071.hp1 HG01346.hp2 |
a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0240 a0001c0010t0009g0247 a0001c0010t0009g0248 |
3 | 404 | 0.0074 | 0 | c.558 others(3): Show |
p.Phe others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 819/2092 | 558/1062 | 186/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693511 | C | T | synonymous_variant | LOW | HG01109.hp1 HG03209.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0264 a0001c0007t0004g0266 a0001c0007t0004g0269 others(1): Show |
4 | 404 | 0.0099 | 0 | c.441 others(3): Show |
p.Arg others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 702/2092 | 441/1062 | 147/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693652 | C | G | synonymous_variant | LOW | HG00738.hp2 HG01891.hp2 HG02615.hp1 others(6): Show |
a0001a0004 | a0001c0009a0004c0005 | a0001c0009t0013a0004c0005t0010 | a0001c0009t0013g0113 a0001c0009t0013g0362 a0001c0009t0013g0383 others(6): Show |
9 | 404 | 0.0223 | 0 | c.300 others(3): Show |
p.Ser others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 561/2092 | 300/1062 | 100/353 | chr22 | TogoVar | |||
A4GALT_chr22_42687121_42725870 | 42693751 | G | C | synonymous_variant | LOW | HG00741.hp1 | a0001 | a0001c0012 | a0001c0012t0005 | a0001c0012t0005g0377 | 1 | 404 | 0.0025 | 0 | c.201 others(3): Show |
p.Pro others(5): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3/3 | 462/2092 | 201/1062 | 67/353 | chr22 | TogoVar | |||
A4GNT_chr3_138118713_138137390 | 138124441 | A | G | synonymous_variant | LOW | HG02055.hp2 HG02257.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0018 a0002c0005t0002g0065 |
4 | 396 | 0.0101 | 0 | c.846 others(3): Show |
p.Asn others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 3/3 | 1051/1779 | 846/1023 | 282/340 | chr3 | TogoVar | |||
A4GNT_chr3_138118713_138137390 | 138124654 | A | G | synonymous_variant | LOW | NA18957.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0057 | 1 | 396 | 0.0025 | 0 | c.633 others(3): Show |
p.Phe others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 3/3 | 838/1779 | 633/1023 | 211/340 | chr3 | TogoVar | |||
A4GNT_chr3_138118713_138137390 | 138131044 | T | A | synonymous_variant | LOW | HG02257.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0194 | 1 | 396 | 0.0025 | 0 | c.213 others(3): Show |
p.Val others(5): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/3 | 418/1779 | 213/1023 | 71/340 | chr3 | TogoVar | |||
A4GNT_chr3_138118713_138137390 | 138131161 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(145): Show |
203 | 396 | 0.5126 | 0 | c.96T others(2): Show |
p.Cys others(5): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/3 | 301/1779 | 96/1023 | 32/340 | chr3 | TogoVar |