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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AACS_chr12_125060435_125148316 | 125089159 | C | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(6): Show |
a0002 | a0002c0005a0002c0011 | a0002c0005t0001a0002c0011t0001 | a0002c0005t0001g0015a0002c0005t0001g0019a0002c0005t0001g0020others(6): Show | 9 | 364 | 0.0247 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089254 | C | G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00738.hp1 others(48): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0004others(6): Show | a0001c0001t0001g0061a0001c0001t0001g0065a0001c0001t0001g0100others(48): Show | 51 | 364 | 0.1401 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089290 | G | C | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0007t0001 | a0001c0001t0001g0097a0002c0002t0001g0124a0002c0002t0001g0137others(5): Show | 8 | 364 | 0.0220 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089377 | T | C | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03453.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089392 | C | T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089422 | C | G | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0224a0001c0001t0006g0336 | 2 | 364 | 0.0055 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089428 | G | A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0342 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089661 | C | A | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089738 | C | T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0053 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089919 | A | G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089927 | A | G | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0126 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089979 | A | G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125089979 | A | T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(1): Show | 4 | 364 | 0.0110 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090069 | T | G | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090142 | A | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090189 | C | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090191 | T | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090197 | C | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090208 | T | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090216 | T | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090228 | T | 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 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090305 | C | G | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0312 | 1 | 364 | 0.0028 | 0 | c.473 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090690 | T | A | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 364 | 0.0028 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090750 | C | T | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03453.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001 | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090861 | C | T | intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205a0001c0001t0002g0206a0001c0001t0002g0229others(1): Show | 4 | 364 | 0.0110 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125090893 | G | A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 364 | 0.0028 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091027 | C | G | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091136 | G | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0239others(19): Show | 22 | 364 | 0.0604 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091203 | C | T | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 364 | 0.0028 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091288 | G | T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 364 | 0.0028 | 0 | c.473 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091347 | C | G | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0063 | 1 | 364 | 0.0028 | 0 | c.473 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091383 | A | C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.473 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 4/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091961 | C | T | intron_variant | MODIFIER | HG01361.hp1 HG01884.hp2 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0007t0001 | a0001c0001t0001g0097a0002c0002t0001g0124a0002c0002t0001g0137others(5): Show | 8 | 364 | 0.0220 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125091969 | G | A | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092098 | C | G | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0024 | 1 | 364 | 0.0028 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092101 | A | G | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0353 | 1 | 364 | 0.0028 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092114 | C | T | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03453.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(6): Show | 9 | 364 | 0.0247 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092126 | A | C | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0303 | 1 | 364 | 0.0028 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092227 | A | C | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03471.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(4): Show | 7 | 364 | 0.0192 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092263 | C | T | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 364 | 0.0028 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092437 | T | G | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 HG06807.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0008a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | 0 | c.570 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092556 | A | G | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 HG06807.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0008a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092625 | C | G | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 364 | 0.0028 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092643 | G | A | intron_variant | MODIFIER | HG03471.hp1 HG03486.hp1 HG06807.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0008a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092705 | C | A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 364 | 0.0028 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092708 | G | A | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(1): Show | 4 | 364 | 0.0110 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092846 | C | T | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0050a0001c0001t0001g0051others(6): Show | 10 | 364 | 0.0275 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125092941 | C | T | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0005 | a0001c0003t0001g0354a0001c0003t0001g0355a0002c0002t0001g0036others(1): Show | 4 | 364 | 0.0110 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093040 | G | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0239others(20): Show | 23 | 364 | 0.0632 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093149 | G | C | intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0120 | 1 | 364 | 0.0028 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar |