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 | 125114058 | G | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(131): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(128): Show | 134 | 364 | 0.3681 | 0 | c.916 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114068 | G | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0340a0002c0005t0001g0015a0002c0005t0001g0020others(4): Show | 7 | 364 | 0.0192 | 0 | c.916 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114185 | G | T | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 364 | 0.0028 | 0 | c.916 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114266 | C | T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 364 | 0.0028 | 0 | c.916 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114291 | A | G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.916 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114382 | C | G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.916 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114402 | G | A | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 364 | 0.0028 | 0 | c.916 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114478 | G | A | missense_variant others(1): Show |
MODERATE | NA18939.hp2 | a0008 | a0008c0023 | a0008c0023t0003 | a0008c0023t0003g0119 | 1 | 364 | 0.0028 | 0 | c.917 others(3): Show |
p.Gly others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/18 | 1067/3256 | 917/2019 | 306/672 | chr12 | TogoVar | ||
AACS_chr12_125060435_125148316 | 125114574 | G | A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0026 | 1 | 364 | 0.0028 | 0 | c.996 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114588 | T | G | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG02055.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0014others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0014t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(12): Show | 17 | 364 | 0.0467 | 0 | c.996 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114594 | A | G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 364 | 0.0028 | 0 | c.996 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114639 | A | G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0007 | a0001c0001t0001a0001c0001t0006a0002c0005t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(28): Show | 32 | 364 | 0.0879 | 0 | c.996 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114654 | G | A | intron_variant | MODIFIER | HG02683.hp2 HG03209.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057a0001c0001t0002g0073a0001c0001t0002g0187 | 3 | 364 | 0.0082 | 0 | c.996 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114765 | G | A | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 364 | 0.0028 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114809 | G | A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 364 | 0.0028 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114866 | G | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0007 | a0001c0001t0001a0002c0005t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0091a0001c0001t0001g0093others(15): Show | 18 | 364 | 0.0495 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114877 | C | T | intron_variant | MODIFIER | HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114941 | C | T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125114963 | G | A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115016 | A | G | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 |
a0001a0002 | a0001c0015a0002c0010 | a0001c0015t0001a0002c0010t0001 | a0001c0015t0001g0070a0002c0010t0001g0018 | 2 | 364 | 0.0055 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115029 | G | A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001a0006a0007 | a0001c0001a0001c0009a0006c0013others(1): Show | a0001c0001t0001a0001c0009t0001a0006c0013t0001others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0356a0001c0001t0001g0357others(4): Show | 7 | 364 | 0.0192 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115043 | C | T | intron_variant | MODIFIER | HG02735.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259a0001c0001t0001g0260 | 2 | 364 | 0.0055 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115247 | G | A | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0014 | 1 | 364 | 0.0028 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115301 | C | G | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 |
a0001a0002 | a0001c0015a0002c0010 | a0001c0015t0001a0002c0010t0001 | a0001c0015t0001g0070a0002c0010t0001g0018 | 2 | 364 | 0.0055 | 0 | c.996 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115682 | C | T | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 364 | 0.0028 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115685 | C | A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(7): Show | 11 | 364 | 0.0302 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115784 | G | C | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0001g0164 | 3 | 364 | 0.0082 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115898 | C | T | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 364 | 0.0028 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115976 | C | T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 364 | 0.0028 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125115998 | T | C | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 364 | 0.0028 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116033 | A | G | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG03471.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0079a0001c0001t0001g0162others(4): Show | 7 | 364 | 0.0192 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116159 | T | C | intron_variant | MODIFIER | HG02922.hp2 HG03471.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0010a0001c0001t0001g0162a0001c0001t0001g0163others(3): Show | 6 | 364 | 0.0165 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116178 | G | A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01515.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0097a0001c0001t0001g0257a0001c0001t0005g0105others(17): Show | 20 | 364 | 0.0550 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116390 | C | T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0194 | 1 | 364 | 0.0028 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116431 | G | T | intron_variant | MODIFIER | NA18957.hp1 NA19078.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0002a0001c0017t0002 | a0001c0001t0002g0252a0001c0017t0002g0204 | 2 | 364 | 0.0055 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116493 | T | C | intron_variant | MODIFIER | HG02165.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071a0001c0001t0002g0082 | 2 | 364 | 0.0055 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116530 | T | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(138): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(135): Show | 141 | 364 | 0.3874 | 0 | c.996 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116620 | C | A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 364 | 0.0028 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116620 | C | T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116768 | C | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103a0001c0001t0005g0104 | 2 | 364 | 0.0055 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125116950 | C | T | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0016 | 1 | 364 | 0.0028 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117147 | C | T | intron_variant | MODIFIER | HG02080.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0337 | 2 | 364 | 0.0055 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117454 | C | T | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117523 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(354): Show | 362 | 364 | 0.9945 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117592 | A | G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 364 | 0.0028 | 0 | c.997 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117668 | C | T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 364 | 0.0028 | 0 | c.997 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117714 | G | A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0336 | 1 | 364 | 0.0028 | 0 | c.997 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117727 | T | C | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0024 | 1 | 364 | 0.0028 | 0 | c.997 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125117791 | G | A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 364 | 0.0028 | 0 | c.997 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125118009 | G | A | intron_variant | MODIFIER | NA18939.hp2 NA18944.hp2 NA18951.hp1 others(5): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0023 | a0001c0001t0001a0002c0002t0001a0008c0023t0003 | a0001c0001t0001g0172a0002c0002t0001g0102a0002c0002t0001g0117others(5): Show | 8 | 364 | 0.0220 | 0 | c.997 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 9/17 | chr12 | TogoVar |