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 | 42724942 | TC | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0008 | a0001c0001t0004a0002c0003t0001a0002c0008t0001 | a0001c0001t0004g0288a0002c0003t0001g0276a0002c0003t0001g0285others(3): Show | 6 | 406 | 0.0148 | -1 | c.-43 others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4073 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42725198 | AT | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01168.hp1 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0010t0009others(2): Show | a0001c0001t0002g0247a0001c0001t0004g0288a0001c0010t0009g0251others(5): Show | 8 | 406 | 0.0197 | -1 | c.-45 others(6): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 4329 | chr22 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138121177 | CT | C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01515.hp1 HG02523.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0038a0001c0001t0001g0110a0001c0001t0001g0119others(6): Show | 9 | 398 | 0.0226 | -1 | c.*30 others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2535 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138121844 | GA | G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02896.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0011 | a0001c0001t0001a0001c0003t0003a0007c0011t0003 | a0001c0001t0001g0155a0001c0003t0003g0020a0001c0003t0003g0021others(1): Show | 8 | 398 | 0.0201 | -1 | c.*24 others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1868 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138122883 | AT | A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01255.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0003a0002c0002t0002 | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0079others(18): Show | 22 | 398 | 0.0553 | -1 | c.*13 others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 829 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138125801 | AG | A | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003a0002c0002t0006 | a0001c0003t0003g0049a0002c0002t0003g0045a0002c0002t0006g0017others(2): Show | 7 | 398 | 0.0176 | -1 | c.409 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138127118 | CA | C | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG03486.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0002a0005c0008t0004 | a0001c0001t0001g0092a0001c0001t0001g0110a0001c0001t0001g0111others(3): Show | 11 | 398 | 0.0276 | -1 | c.409 others(9): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138130086 | CT | C | intron_variant | MODIFIER | HG01358.hp1 HG02622.hp1 HG02809.hp1 others(3): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0003a0003c0006t0001 | a0001c0003t0003g0021a0003c0006t0001g0027a0003c0006t0001g0074 | 6 | 398 | 0.0151 | -1 | c.408 others(8): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138133991 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(136): Show | 186 | 398 | 0.4673 | -1 | c.-18 others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 1602 | chr3 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138135199 | TA | T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01123.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0005others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0033others(34): Show | 42 | 398 | 0.1055 | -1 | c.-30 others(6): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2810 | chr3 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53305119 | CG | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(115): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(63): Show | 118 | 330 | 0.3576 | -1 | c.*23 others(6): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2340 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53310558 | CA | C | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02976.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0057a0001c0001t0001g0068a0001c0001t0001g0101others(6): Show | 9 | 330 | 0.0273 | -1 | c.690 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53312861 | TA | T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(67): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0012others(37): Show | 70 | 330 | 0.2121 | -1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53312862 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(122): Show | 228 | 330 | 0.6909 | -1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53313155 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 293 | 330 | 0.8879 | -1 | c.689 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53313611 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0035others(14): Show | 28 | 330 | 0.0849 | -1 | c.689 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 7/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53316764 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(49): Show | 85 | 330 | 0.2576 | -1 | c.252 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317556 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(161): Show | 295 | 330 | 0.8939 | -1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53317568 | AC | A | intron_variant | MODIFIER | HG00609.hp2 HG02129.hp1 NA18995.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0108 | 5 | 330 | 0.0152 | -1 | c.252 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53319201 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0167a0002c0004t0001g0044a0002c0004t0001g0156others(2): Show | 7 | 330 | 0.0212 | -1 | c.251 others(9): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53319802 | CA | C | intron_variant | MODIFIER | HG01884.hp2 HG02027.hp2 HG02083.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0007a0001c0001t0001g0043a0001c0001t0001g0056others(4): Show | 12 | 330 | 0.0364 | -1 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53319825 | AG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(146): Show | 275 | 330 | 0.8333 | -1 | c.251 others(8): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53323368 | CA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0012others(34): Show | 61 | 330 | 0.1849 | -1 | c.-19 others(6): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 1759 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062024 | TA | T | upstream_gene_variant | MODIFIER | HG01258.hp2 HG01943.hp1 HG01943.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0080a0001c0001t0001g0275a0001c0001t0001g0284others(21): Show | 24 | 364 | 0.0659 | -1 | c.-35 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3410 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062029 | CT | C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG03516.hp1 NA18941.hp2 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0016 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0002g0058others(3): Show | 6 | 364 | 0.0165 | -1 | c.-35 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3405 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125062905 | CT | C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0169a0001c0001t0001g0190a0001c0001t0001g0196others(3): Show | 6 | 364 | 0.0165 | -1 | c.-26 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 2529 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125066450 | AT | A | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG02004.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(3): Show | 6 | 364 | 0.0165 | -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 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(194): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0029others(190): Show | 197 | 364 | 0.5412 | -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 | 125068843 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(277): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(272): Show | 280 | 364 | 0.7692 | -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 | 125072918 | TG | T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(1): Show | 4 | 364 | 0.0110 | -1 | c.134 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125072919 | GT | G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0097others(33): Show | 36 | 364 | 0.0989 | -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 | 125077074 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0097others(110): Show | 114 | 364 | 0.3132 | -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 | CA | C | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp1 HG03239.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0003g0314a0001c0003t0001g0221a0002c0002t0001g0132others(4): Show | 7 | 364 | 0.0192 | -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 | 125078820 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(112): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(111): Show | 115 | 364 | 0.3159 | -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 | 125082171 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(340): Show | 348 | 364 | 0.9560 | -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 | 125082342 | AT | A | intron_variant | MODIFIER | HG02040.hp1 HG03490.hp1 HG03540.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0097a0001c0001t0001g0190a0001c0001t0002g0037others(2): Show | 6 | 364 | 0.0165 | -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 | 125082566 | AT | 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 | -1 | c.359 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125084578 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0012others(151): Show | 157 | 364 | 0.4313 | -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 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0159others(33): Show | 36 | 364 | 0.0989 | -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 | 125090168 | CT | C | 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(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090233 | TG | T | 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(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093077 | GC | G | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG02071.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0307a0001c0001t0002g0182a0001c0003t0001g0168others(18): Show | 21 | 364 | 0.0577 | -1 | c.570 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125097433 | TA | T | intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01361.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0079a0001c0001t0001g0159a0001c0001t0001g0162others(19): Show | 22 | 364 | 0.0604 | -1 | c.571 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CA | C | intron_variant | MODIFIER | HG01981.hp2 HG02630.hp1 HG02723.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0044a0001c0001t0003g0312a0001c0001t0003g0317others(6): Show | 10 | 364 | 0.0275 | -1 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125108863 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(154): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(152): Show | 157 | 364 | 0.4313 | -1 | c.915 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125115260 | GT | G | intron_variant | MODIFIER | HG01168.hp2 HG02922.hp2 HG03471.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0039a0001c0001t0001g0162others(7): Show | 10 | 364 | 0.0275 | -1 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125116017 | AT | A | intron_variant | MODIFIER | HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | -1 | c.996 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125125957 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0034others(136): Show | 140 | 364 | 0.3846 | -1 | c.130 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125138007 | CT | C | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 HG06807.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0016a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | -1 | c.188 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125140609 | TA | T | intron_variant | MODIFIER | NA18942.hp1 NA18949.hp2 NA18955.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0291a0001c0001t0002g0231a0001c0001t0003g0276others(3): Show | 6 | 364 | 0.0165 | -1 | c.188 others(10): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |