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 | 125093188 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0039others(75): Show | 80 | 364 | 0.2198 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093235 | T | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103a0001c0001t0005g0104 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093424 | T | C | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 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 | 125093488 | C | G | intron_variant | MODIFIER | HG02615.hp2 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0212a0001c0004t0001g0213 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093508 | G | A | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060a0001c0001t0005g0072a0001c0001t0005g0099 | 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 | 125093590 | C | T | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0204 | 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 | 125093736 | C | T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0292 | 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 | 125093746 | A | G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164others(5): Show | 8 | 364 | 0.0220 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093749 | T | C | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 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 | 125093789 | A | C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0328 | 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 | 125093824 | C | T | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 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 | 125093873 | T | G | intron_variant | MODIFIER | NA18612.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0044a0001c0001t0008g0208 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093926 | 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.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125093991 | T | C | intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0339 | 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 | 125094039 | C | T | intron_variant | MODIFIER | NA18950.hp1 NA18988.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114a0002c0002t0001g0139 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125094125 | G | T | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 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 | 125094126 | T | G | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 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 | 125094216 | T | C | 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 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125094466 | G | T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 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 | 125094487 | C | T | intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 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 | 125094547 | G | T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 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 | 125094650 | T | G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(7): 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 | 125094683 | C | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103a0001c0001t0005g0104 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125094972 | G | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0004t0004a0001c0008t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0239others(17): Show | 20 | 364 | 0.0550 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125094972 | G | T | intron_variant | MODIFIER | HG02615.hp2 NA19030.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0212a0001c0004t0001g0213 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125095011 | G | C | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 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 | 125095017 | G | C | 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.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125095134 | A | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(192): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(190): Show | 195 | 364 | 0.5357 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125095514 | C | G | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(7): 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 | 125095565 | G | A | intron_variant | MODIFIER | HG02165.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071a0001c0001t0002g0082 | 2 | 364 | 0.0055 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125095588 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0006 | a0001c0001t0002g0200a0001c0001t0002g0220a0001c0001t0006g0186others(6): Show | 9 | 364 | 0.0247 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125095652 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0039others(108): Show | 114 | 364 | 0.3132 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125095981 | C | A | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0162a0001c0001t0001g0163others(7): 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 | 125095988 | G | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(13): Show |
a0001 | a0001c0004a0001c0008a0001c0012 | a0001c0004t0004a0001c0008t0001a0001c0008t0002others(1): Show | a0001c0004t0004g0098a0001c0004t0004g0167a0001c0004t0004g0209others(13): Show | 16 | 364 | 0.0440 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125096462 | C | T | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02897.hp2 |
a0001a0006 | a0001c0009a0006c0013 | a0001c0009t0001a0006c0013t0001 | a0001c0009t0001g0348a0001c0009t0001g0349a0006c0013t0001g0350 | 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 | 125096734 | C | A | intron_variant | MODIFIER | HG02040.hp1 HG02129.hp1 HG02165.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0040a0001c0001t0002g0042others(12): Show | 15 | 364 | 0.0412 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125096797 | C | T | intron_variant | MODIFIER | HG03239.hp1 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0088others(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 | 125096895 | C | T | intron_variant | MODIFIER | NA18950.hp2 NA19007.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297a0001c0001t0002g0298a0001c0001t0002g0301 | 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 | 125096906 | G | A | intron_variant | MODIFIER | NA18939.hp2 NA18944.hp2 NA18951.hp1 others(4): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0023 | a0001c0001t0001a0002c0002t0001a0008c0023t0003 | a0001c0001t0001g0172a0002c0002t0001g0117a0002c0002t0001g0118others(4): Show | 7 | 364 | 0.0192 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125096950 | C | T | intron_variant | MODIFIER | HG00597.hp1 HG02071.hp1 NA18962.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0026 | a0001c0001t0002a0001c0003t0001a0002c0026t0001 | a0001c0001t0002g0182a0001c0003t0001g0168a0001c0003t0001g0216others(5): Show | 8 | 364 | 0.0220 | 0 | c.570 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097002 | G | C | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0208 | 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 | 125097082 | C | T | intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 | 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 | 125097153 | C | T | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097203 | A | G | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097239 | A | G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 364 | 0.0028 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097521 | G | A | intron_variant | MODIFIER | HG02615.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0157 | 2 | 364 | 0.0055 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097652 | G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(334): Show | 342 | 364 | 0.9396 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097708 | C | T | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0354a0001c0003t0001g0355 | 2 | 364 | 0.0055 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097845 | C | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(189): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0030others(187): Show | 192 | 364 | 0.5275 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125097847 | C | T | intron_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 364 | 0.0028 | 0 | c.571 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | chr12 | TogoVar |