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 | 125110189 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0062a0001c0001t0001g0066others(34): Show | 37 | 364 | 0.1017 | -12 | c.915 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0030a0001c0001t0001g0031others(25): Show | 28 | 364 | 0.0769 | -14 | c.915 others(31): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG01975.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0004a0001c0004t0001others(6): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(15): Show | 18 | 364 | 0.0495 | -16 | c.915 others(33): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02040.hp2 HG02132.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0005a0001c0003t0001a0001c0004t0004 | a0001c0001t0005g0072a0001c0001t0005g0103a0001c0001t0005g0104others(10): Show | 13 | 364 | 0.0357 | -18 | c.915 others(35): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01243.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0004others(4): Show | a0001c0001t0001g0287a0001c0001t0002g0188a0001c0001t0002g0201others(5): Show | 8 | 364 | 0.0220 | -20 | c.915 others(37): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0159a0001c0001t0001g0203a0001c0001t0002g0200others(3): Show | 6 | 364 | 0.0165 | -22 | c.915 others(39): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(17): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02738.hp1 others(5): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0024 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0251a0001c0001t0002g0155others(4): Show | 8 | 364 | 0.0220 | -24 | c.915 others(41): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp2 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(84): Show | 89 | 364 | 0.2445 | -26 | c.915 others(43): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(21): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0060 | 1 | 364 | 0.0028 | -28 | c.915 others(45): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110231 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0245 | 1 | 364 | 0.0028 | -19 | c.915 others(36): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110237 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 364 | 0.0028 | -13 | c.915 others(30): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110340 | G | A | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0225 | 1 | 364 | 0.0028 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110375 | G | A | intron_variant | MODIFIER | NA18943.hp2 NA18952.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284a0001c0001t0001g0300a0001c0001t0001g0345 | 3 | 364 | 0.0082 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110512 | G | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(129): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(126): Show | 132 | 364 | 0.3626 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110534 | C | T | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0096 | 1 | 364 | 0.0028 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111029 | C | G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0213 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111044 | G | C | intron_variant | MODIFIER | HG02647.hp1 HG02895.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094a0002c0002t0001g0095 | 2 | 364 | 0.0055 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111105 | C | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103a0001c0001t0005g0104 | 2 | 364 | 0.0055 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111210 | C | T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111297 | A | G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111303 | G | A | intron_variant | MODIFIER | NA18986.hp2 NA18993.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289a0001c0001t0001g0306a0001c0001t0001g0352 | 3 | 364 | 0.0082 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111307 | C | T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111386 | T | C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0355 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111587 | T | C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111794 | C | T | intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111830 | A | G | 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(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111842 | G | A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111883 | C | T | intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111901 | AGAG | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(10): Show | 13 | 364 | 0.0357 | -3 | c.916 others(20): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125111912 | G | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(95): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(93): Show | 98 | 364 | 0.2692 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111958 | C | T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0103a0001c0001t0005g0104a0002c0002t0001g0011 | 3 | 364 | 0.0082 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125111966 | G | A | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0103a0001c0001t0005g0104a0002c0002t0001g0011 | 3 | 364 | 0.0082 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112205 | T | C | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0330 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112322 | C | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02559.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0007c0016t0001 | a0001c0001t0001g0077a0001c0001t0001g0356a0001c0001t0001g0357others(1): Show | 4 | 364 | 0.0110 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112530 | A | G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112638 | C | T | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112678 | C | CA | intron_variant | MODIFIER | HG02257.hp1 HG03239.hp1 HG03239.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0007 | a0001c0001t0001g0086a0001c0001t0001g0088a0001c0001t0001g0089others(3): Show | 6 | 364 | 0.0165 | 1 | c.916 others(9): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0004a0001c0009t0001others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0356a0001c0001t0001g0357others(6): Show | 9 | 364 | 0.0247 | 9 | c.916 others(26): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(29): Show | 32 | 364 | 0.0879 | 10 | c.916 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(108): Show | 114 | 364 | 0.3132 | 11 | c.916 others(28): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00735.hp1 others(26): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0039a0001c0001t0001g0091others(26): Show | 29 | 364 | 0.0797 | 12 | c.916 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18906.hp1 |
a0001a0009 | a0001c0001a0009c0024 | a0001c0001t0002a0009c0024t0001 | a0001c0001t0002g0187a0009c0024t0001g0263 | 2 | 364 | 0.0055 | 13 | c.916 others(30): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125112845 | A | T | 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.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112898 | C | G | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
a0002a0005a0009 | a0002c0002a0005c0014a0009c0024 | a0002c0002t0001a0005c0014t0001a0009c0024t0001 | a0002c0002t0001g0004a0002c0002t0001g0264a0005c0014t0001g0339others(1): Show | 5 | 364 | 0.0137 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112931 | C | T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273a0002c0002t0001g0274 | 2 | 364 | 0.0055 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112932 | G | A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 364 | 0.0028 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125113129 | G | A | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 |
a0001a0002 | a0001c0015a0002c0010 | a0001c0015t0001a0002c0010t0001 | a0001c0015t0001g0070a0002c0010t0001g0018 | 2 | 364 | 0.0055 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125113306 | C | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(3): Show | 6 | 364 | 0.0165 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125113395 | G | A | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0025t0001g0255 | 2 | 364 | 0.0055 | 0 | c.916 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125113623 | G | A | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
a0002a0005a0009 | a0002c0002a0005c0014a0009c0024 | a0002c0002t0001a0005c0014t0001a0009c0024t0001 | a0002c0002t0001g0004a0002c0002t0001g0264a0005c0014t0001g0339others(1): Show | 5 | 364 | 0.0137 | 0 | c.916 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar |