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 | 42709344 | C | CA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(9): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(40): Show | 44 | 406 | 0.1084 | 1 | c.-18 others(11): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(74): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(10): Show | a0001c0001t0002g0007a0001c0001t0002g0095a0001c0001t0002g0104others(72): Show | 77 | 406 | 0.1897 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714745 | G | GA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0002g0247others(23): Show | 26 | 406 | 0.0640 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42715044 | T | TG | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(6): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(30): Show | 33 | 406 | 0.0813 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42718591 | C | CA | intron_variant | MODIFIER | HG00738.hp2 HG02630.hp2 HG02896.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0002t0005a0001c0009t0013others(1): Show | a0001c0001t0004g0381a0001c0002t0005g0219a0001c0009t0013g0384others(6): Show | 9 | 406 | 0.0222 | 1 | c.-18 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720923 | G | GC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(402): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(35): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0087others(392): Show | 405 | 406 | 0.9975 | 1 | c.-31 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 54 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42721119 | T | TC | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01952.hp2 HG03669.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0002g0130a0001c0001t0002g0131a0001c0001t0002g0167others(6): Show | 9 | 406 | 0.0222 | 1 | c.-51 others(5): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 250 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42721369 | A | AG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(303): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(32): Show | a0001c0001t0002g0003a0001c0001t0002g0087a0001c0001t0002g0091others(298): Show | 306 | 406 | 0.7537 | 1 | c.-76 others(10): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 500 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722157 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0002t0005a0001c0002t0011others(7): Show | a0001c0001t0002g0319a0001c0001t0002g0320a0001c0002t0005g0369others(24): Show | 28 | 406 | 0.0690 | 1 | c.-15 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1288 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | AT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0002g0307a0001c0001t0002g0322a0001c0001t0002g0357others(25): Show | 28 | 406 | 0.0690 | 1 | c.-16 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42723579 | C | CA | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01981.hp2 HG03831.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0001t0002g0144a0001c0001t0002g0180a0001c0001t0002g0319others(4): Show | 7 | 406 | 0.0172 | 1 | c.-29 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 2710 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42724719 | C | CT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(28): Show | a0001c0001t0002g0007a0001c0001t0002g0131a0001c0001t0002g0188others(203): Show | 210 | 406 | 0.5172 | 1 | c.-41 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3850 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42725198 | A | AT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(261): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0091a0001c0001t0002g0092others(257): Show | 264 | 406 | 0.6503 | 1 | c.-45 others(12): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4329 | chr22 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138122883 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(127): Show | 207 | 398 | 0.5201 | 1 | c.*13 others(12): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 829 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138127118 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(72): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0036a0001c0001t0001g0107a0001c0001t0001g0108others(46): Show | 75 | 398 | 0.1884 | 1 | c.409 others(9): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138127573 | C | CA | intron_variant | MODIFIER | HG00597.hp2 HG02074.hp2 HG02080.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0175a0001c0001t0001g0176others(14): Show | 18 | 398 | 0.0452 | 1 | c.409 others(9): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138133991 | G | GT | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG02109.hp2 others(8): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0006 | a0001c0003t0005a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0003t0005g0044a0002c0002t0002g0026a0002c0002t0003g0025others(4): Show | 11 | 398 | 0.0276 | 1 | c.-18 others(12): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1602 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138135199 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00642.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0185a0001c0001t0001g0186others(15): Show | 66 | 398 | 0.1658 | 1 | c.-30 others(12): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2810 | chr3 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53304187 | C | CT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0037others(16): Show | 36 | 330 | 0.1091 | 1 | c.*33 others(6): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 3272 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53310558 | C | CA | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0050others(6): Show | 15 | 330 | 0.0455 | 1 | c.690 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53312217 | C | CA | intron_variant | MODIFIER | HG02486.hp1 HG02896.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0111a0001c0001t0001g0141a0001c0005t0001g0176others(4): Show | 7 | 330 | 0.0212 | 1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53312565 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(164): Show | 297 | 330 | 0.9000 | 1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53313611 | A | AT | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02135.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0113others(13): Show | 20 | 330 | 0.0606 | 1 | c.689 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53316764 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(66): Show | 129 | 330 | 0.3909 | 1 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317741 | C | CA | intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0128others(2): Show | 10 | 330 | 0.0303 | 1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53319802 | C | CA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0175a0001c0002t0001g0174a0002c0004t0001g0044others(2): Show | 7 | 330 | 0.0212 | 1 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125060683 | G | GA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(66): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0080a0001c0001t0001g0275others(65): Show | 69 | 364 | 0.1896 | 1 | c.-49 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4751 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062002 | A | AT | upstream_gene_variant | MODIFIER | HG02698.hp2 NA18612.hp2 NA18949.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0043a0001c0001t0002g0046a0001c0001t0002g0154others(3): Show | 6 | 364 | 0.0165 | 1 | c.-35 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3432 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064480 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(152): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0080others(150): Show | 155 | 364 | 0.4258 | 1 | c.-11 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 954 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064482 | A | AC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(9): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0024 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0006g0197others(8): Show | 12 | 364 | 0.0330 | 1 | c.-11 others(12): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 952 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064643 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(161): Show | 166 | 364 | 0.4560 | 1 | c.-94 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 791 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125064799 | T | TG | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(52): Show |
a0002a0008a0010 | a0002c0002a0002c0006a0002c0026others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0102a0002c0002t0001g0111others(51): Show | 55 | 364 | 0.1511 | 1 | c.-78 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 635 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066450 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0031others(169): Show | 175 | 364 | 0.4808 | 1 | c.133 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125067542 | A | AT | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0004a0002c0002t0001 | a0001c0004t0004g0098a0002c0002t0001g0006a0002c0002t0001g0007others(3): Show | 6 | 364 | 0.0165 | 1 | c.133 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125072157 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(79): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0251a0001c0001t0001g0275others(78): Show | 82 | 364 | 0.2253 | 1 | c.134 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125072919 | G | GT | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01975.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0004 | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0078others(9): Show | 12 | 364 | 0.0330 | 1 | c.134 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125074660 | G | GT | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01258.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(43): Show | 47 | 364 | 0.1291 | 1 | c.237 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125074975 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(126): Show | 131 | 364 | 0.3599 | 1 | c.237 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125075595 | G | GT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0038a0001c0001t0001g0227a0001c0001t0001g0284others(23): Show | 26 | 364 | 0.0714 | 1 | c.238 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125077074 | A | AT | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01168.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0038others(14): Show | 17 | 364 | 0.0467 | 1 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125077509 | C | CA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02148.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0333a0001c0001t0001g0351others(11): Show | 14 | 364 | 0.0385 | 1 | c.358 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125077717 | A | AT | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01081.hp1 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0159a0001c0001t0001g0277a0001c0001t0001g0278others(13): Show | 16 | 364 | 0.0440 | 1 | c.358 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125078820 | C | CA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0050a0001c0001t0001g0051others(64): Show | 69 | 364 | 0.1896 | 1 | c.358 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125080657 | C | CA | intron_variant | MODIFIER | HG02055.hp2 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013 | 3 | 364 | 0.0082 | 1 | c.358 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125081879 | G | GT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG03098.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0227a0001c0001t0002g0183others(4): Show | 7 | 364 | 0.0192 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125083425 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(68): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0275a0001c0001t0001g0281others(67): Show | 71 | 364 | 0.1951 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125084317 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(75): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(74): Show | 78 | 364 | 0.2143 | 1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125088224 | C | CT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0002g0002others(11): Show | 15 | 364 | 0.0412 | 1 | c.472 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125090230 | T | TC | 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 | 1 | c.473 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092725 | T | TG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(337): Show | 345 | 364 | 0.9478 | 1 | c.570 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar |