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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0002g0235 a0001c0001t0004g0287 a0001c0010t0009g0240 others(5): Show |
8 | 131 | 0.0611 | -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 | a0001c0001t0001g0032 a0001c0001t0001g0114 a0001c0001t0001g0123 others(6): Show |
9 | 396 | 0.0227 | -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 | a0001c0001t0001g0159 a0001c0003t0003g0020 a0001c0003t0003g0021 others(1): Show |
8 | 396 | 0.0202 | -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 | a0001c0001t0001g0040 a0001c0001t0001g0076 a0001c0001t0001g0077 others(18): Show |
22 | 189 | 0.1164 | -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 | a0001c0003t0003a0002c0002t0005a0002c0002t0007 | a0001c0003t0003g0048 a0002c0002t0005g0044 a0002c0002t0007g0017 others(2): Show |
7 | 396 | 0.0177 | -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(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0002a0005c0008t0004 | a0001c0001t0001g0090 a0001c0001t0001g0114 a0001c0001t0001g0115 others(3): Show |
10 | 316 | 0.0316 | -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 | a0001c0003t0003a0003c0006t0008 | a0001c0003t0003g0021 a0003c0006t0008g0028 a0003c0006t0008g0072 |
6 | 394 | 0.0152 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(136): Show |
186 | 378 | 0.4921 | -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 | a0001c0001t0001a0001c0003t0003a0001c0003t0006others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0035 others(34): Show |
42 | 328 | 0.1280 | -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(114): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(60): Show |
117 | 328 | 0.3567 | -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 | a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0090 others(6): Show |
9 | 313 | 0.0288 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(35): Show |
70 | 328 | 0.2134 | -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(224): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(114): Show |
227 | 320 | 0.7094 | -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(289): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(148): Show |
292 | 326 | 0.8957 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0036 others(11): Show |
28 | 308 | 0.0909 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 others(49): Show |
85 | 186 | 0.4570 | -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(291): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(150): Show |
294 | 328 | 0.8963 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0097 |
5 | 328 | 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 | a0001c0001t0001g0159 a0002c0004t0001g0047 a0002c0004t0001g0147 others(2): Show |
7 | 324 | 0.0216 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0059 others(3): Show |
12 | 320 | 0.0375 | -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(271): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(137): Show |
274 | 328 | 0.8354 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(33): Show |
61 | 82 | 0.7439 | -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 | a0001c0001t0001g0080 a0001c0001t0001g0273 a0001c0001t0001g0282 others(21): Show |
24 | 362 | 0.0663 | -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 |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0016 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0002g0064 others(3): Show |
6 | 291 | 0.0206 | -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 | a0001c0001t0001g0166 a0001c0001t0001g0192 a0001c0001t0001g0198 others(3): Show |
6 | 362 | 0.0166 | -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 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(3): Show |
6 | 83 | 0.0723 | -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(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0005 a0001c0001t0001g0028 a0001c0001t0001g0029 others(187): Show |
196 | 356 | 0.5506 | -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(276): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(269): Show |
279 | 360 | 0.7750 | -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 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(1): Show |
4 | 362 | 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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0097 others(33): Show |
36 | 105 | 0.3429 | -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 |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0097 others(109): Show |
114 | 339 | 0.3363 | -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(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0003t0001a0002c0002t0001 | a0001c0001t0003g0312 a0001c0003t0001g0230 a0002c0002t0001g0134 others(3): Show |
6 | 348 | 0.0172 | -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 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(109): Show |
115 | 206 | 0.5583 | -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(344): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(337): Show |
347 | 362 | 0.9586 | -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 | a0001c0001t0001g0097 a0001c0001t0001g0192 a0001c0001t0002g0037 others(2): Show |
6 | 362 | 0.0166 | -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 | 125084578 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(154): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 others(150): Show |
157 | 355 | 0.4423 | -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(32): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0159 others(31): Show |
35 | 347 | 0.1009 | -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 | 125093077 | GC | G | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG02071.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0305 a0001c0001t0002g0180 a0001c0003t0001g0178 others(18): Show |
21 | 362 | 0.0580 | -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 | a0001c0001t0001g0078 a0001c0001t0001g0159 a0001c0001t0001g0162 others(19): Show |
22 | 287 | 0.0767 | -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 | a0001c0001t0003g0044 a0001c0001t0003g0310 a0001c0001t0003g0315 others(6): Show |
10 | 26 | 0.3846 | -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 |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(150): Show |
157 | 345 | 0.4551 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0162 others(7): Show |
10 | 330 | 0.0303 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0162 a0001c0001t0001g0163 others(3): Show |
6 | 362 | 0.0166 | -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 |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0034 others(134): Show |
140 | 352 | 0.3977 | -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 | a0002c0007t0001g0018 a0002c0007t0001g0019 a0002c0007t0001g0027 |
3 | 362 | 0.0083 | -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 | a0001c0001t0001g0289 a0001c0001t0002g0244 a0001c0001t0003g0274 others(3): Show |
6 | 342 | 0.0175 | -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 | 125141855 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(171): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0038 others(168): Show |
174 | 362 | 0.4807 | -1 | c.188 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125143659 | CA | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0232 |
3 | 362 | 0.0083 | -1 | c.*14 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 344 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125147103 | CA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0093 others(85): Show |
89 | 249 | 0.3574 | -1 | c.*48 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 3788 | chr12 | TogoVar | |||||||
AADACL2_chr3_151728927_151766339 | 151736302 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(265): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0038 others(106): Show |
268 | 377 | 0.7109 | -1 | c.138 others(9): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |