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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58355145 | CCT | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0006a0002c0002t0008 | a0001c0001t0002g0016a0002c0002t0006g0017a0002c0002t0008g0025others(1): Show | 8 | 386 | 0.0207 | -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 |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(29): Show | 124 | 386 | 0.3212 | -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 | a0001c0001t0009g0026a0001c0001t0009g0158a0001c0001t0009g0159others(9): Show | 13 | 338 | 0.0385 | -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 | a0001c0001t0009g0026a0001c0001t0009g0158a0001c0001t0009g0159others(9): Show | 13 | 338 | 0.0385 | -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 | a0001c0001t0003g0059a0001c0001t0003g0060a0001c0001t0003g0061others(15): Show | 19 | 338 | 0.0562 | -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 | a0001c0001t0001g0197a0001c0001t0002g0027a0001c0001t0002g0028others(7): Show | 12 | 338 | 0.0355 | -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 | a0001c0012t0034a0002c0004t0018 | a0001c0012t0034g0154a0002c0004t0018g0034a0002c0004t0018g0153 | 3 | 338 | 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(217): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(180): Show | 220 | 338 | 0.6509 | -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(306): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0006others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(300): Show | 309 | 368 | 0.8397 | -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 |
a0008a0013 | a0008c0012a0008c0024a0008c0038others(1): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(2): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(7): Show | 10 | 368 | 0.0272 | -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 |
a0006a0016a0028others(2): Show | a0006c0011a0016c0030a0028c0054others(2): Show | a0006c0011t0005a0016c0030t0002a0028c0054t0002others(2): Show | a0006c0011t0005g0164a0016c0030t0002g0022a0016c0030t0002g0025others(3): Show | 6 | 368 | 0.0163 | -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 |
a0004a0030a0034others(1): Show | a0004c0029a0004c0045a0004c0047others(4): Show | a0004c0029t0004a0004c0045t0004a0004c0047t0004others(4): Show | a0004c0029t0004g0007a0004c0045t0004g0123a0004c0047t0004g0093others(4): Show | 8 | 368 | 0.0217 | -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(60): Show |
a0001a0002a0004others(12): Show | a0001c0001a0002c0003a0002c0017others(20): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(22): Show | a0001c0001t0002g0331a0002c0003t0001g0047a0002c0003t0001g0052others(58): Show | 63 | 368 | 0.1712 | -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 |
a0005 | a0005c0009a0005c0066 | a0005c0009t0001a0005c0066t0001 | a0005c0009t0001g0001a0005c0009t0001g0055a0005c0009t0001g0056others(7): Show | 11 | 368 | 0.0299 | -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 |
a0001a0005a0007others(2): Show | a0001c0001a0001c0008a0001c0035others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(93): Show | 98 | 368 | 0.2663 | -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 |
a0004a0010a0015others(3): Show | a0004c0014a0004c0040a0004c0064others(6): Show | a0004c0014t0004a0004c0040t0004a0004c0064t0002others(6): Show | a0004c0014t0004g0159a0004c0014t0004g0215a0004c0014t0004g0237others(13): Show | 16 | 368 | 0.0435 | -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 |
a0004a0010a0015others(2): Show | a0004c0014a0004c0040a0004c0064others(5): Show | a0004c0014t0004a0004c0040t0004a0004c0064t0002others(5): Show | a0004c0014t0004g0159a0004c0014t0004g0215a0004c0014t0004g0237others(11): Show | 14 | 368 | 0.0380 | -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(112): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(95): Show | 115 | 332 | 0.3464 | -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 |
a0001a0007 | a0001c0011a0007c0027 | a0001c0011t0001a0007c0027t0001 | a0001c0011t0001g0264a0001c0011t0001g0266a0007c0027t0001g0277 | 3 | 332 | 0.0090 | -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 | a0001c0001t0001g0146a0001c0001t0001g0183a0001c0001t0001g0192others(31): Show | 37 | 332 | 0.1115 | -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 | a0001c0001t0001g0022a0001c0001t0001g0149a0001c0001t0001g0165others(4): Show | 8 | 332 | 0.0241 | -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 |
a0001a0012a0016 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0002a0001c0003t0002a0001c0009t0002others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0013others(40): Show | 52 | 332 | 0.1566 | -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 | a0001c0001t0002g0005a0001c0001t0002g0055a0001c0001t0002g0057others(9): Show | 13 | 332 | 0.0392 | -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 | a0001c0001t0000 | a0001c0001t0000g0009a0001c0001t0000g0024a0001c0001t0000g0029others(5): Show | 13 | 418 | 0.0311 | -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 | a0001c0001t0000 | a0001c0001t0000g0036a0001c0001t0000g0187 | 3 | 418 | 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 |
a0001a0010 | a0001c0001a0001c0014a0010c0011 | a0001c0001t0000a0001c0014t0000a0010c0011t0000 | a0001c0001t0000g0018a0001c0001t0000g0107a0001c0001t0000g0141others(7): Show | 12 | 418 | 0.0287 | -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 | a0001c0001t0000 | a0001c0001t0000g0022a0001c0001t0000g0060a0001c0001t0000g0154others(3): Show | 7 | 418 | 0.0168 | -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 | a0002c0003t0001g0010a0002c0003t0001g0345a0002c0003t0001g0362others(6): Show | 10 | 406 | 0.0246 | -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(239): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(17): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(232): Show | 242 | 406 | 0.5961 | -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 | a0002c0003t0001g0232a0002c0003t0001g0241a0002c0003t0001g0243others(6): Show | 10 | 406 | 0.0246 | -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 | a0001c0001t0004g0246a0001c0001t0004g0299a0001c0001t0004g0381others(11): Show | 15 | 406 | 0.0370 | -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 | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(26): Show | 30 | 406 | 0.0739 | -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 | a0001c0001t0002g0254a0001c0001t0004g0393a0001c0001t0022g0214others(1): Show | 4 | 406 | 0.0099 | -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 | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0004g0235others(29): Show | 33 | 406 | 0.0813 | -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(118): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0019a0001c0001t0026others(7): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(116): Show | 121 | 406 | 0.2980 | -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 | a0001c0001t0002g0307a0001c0001t0002g0315a0001c0001t0002g0319others(8): Show | 12 | 406 | 0.0296 | -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(127): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(12): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(125): Show | 130 | 406 | 0.3202 | -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 | a0001c0001t0004g0264a0001c0001t0004g0268a0001c0002t0011g0277others(9): Show | 12 | 406 | 0.0296 | -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(238): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0101others(233): Show | 241 | 406 | 0.5936 | -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 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(3): Show | 6 | 398 | 0.0151 | -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 | a0001c0003t0003g0020a0001c0003t0003g0021a0007c0011t0003g0043 | 7 | 398 | 0.0176 | -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(313): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(176): Show | 316 | 330 | 0.9576 | -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 | a0001c0001t0001g0007a0001c0001t0001g0043 | 7 | 330 | 0.0212 | -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(242): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(136): Show | 245 | 330 | 0.7424 | -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 |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0030others(118): Show | 124 | 364 | 0.3407 | -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 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0030others(79): Show | 84 | 364 | 0.2308 | -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 |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0028others(168): Show | 174 | 364 | 0.4780 | -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 |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0031a0001c0001t0001g0281others(64): Show | 68 | 364 | 0.1868 | -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 | 125090139 | ACC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(355): Show | 363 | 364 | 0.9973 | -2 | c.473 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | 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 | a0001c0001t0001g0035a0001c0001t0001g0077a0001c0001t0001g0340others(16): Show | 19 | 364 | 0.0522 | -2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |