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 | 125107390 | G | A | intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0255 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107477 | G | A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107522 | C | T | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02486.hp1 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0077a0001c0001t0001g0079others(7): Show | 10 | 364 | 0.0275 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107627 | T | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107658 | G | C | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0066a0001c0001t0001g0067others(3): Show | 6 | 364 | 0.0165 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107686 | C | T | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0074a0002c0002t0001g0094a0002c0002t0001g0095others(1): Show | 4 | 364 | 0.0110 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107703 | A | G | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0103a0001c0001t0005g0104a0002c0002t0001g0011 | 3 | 364 | 0.0082 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107765 | C | T | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107840 | G | A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01515.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0097a0001c0001t0001g0162others(29): Show | 32 | 364 | 0.0879 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107983 | T | C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108002 | C | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(2): Show | 5 | 364 | 0.0137 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108048 | C | T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108089 | C | A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108159 | A | G | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 364 | 0.0028 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108234 | G | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(2): Show | 5 | 364 | 0.0137 | 0 | c.915 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108357 | C | T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0342 | 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 | 125108464 | C | T | 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.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108507 | A | G | 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.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108545 | A | G | 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.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108570 | C | T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 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 | 125108639 | G | C | intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 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 | 125108675 | T | A | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0105a0001c0001t0005g0106a0001c0001t0005g0107others(4): Show | 7 | 364 | 0.0192 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108676 | A | T | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01515.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0257a0001c0001t0005g0103a0001c0001t0005g0104others(17): Show | 20 | 364 | 0.0550 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108772 | G | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(150): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(147): Show | 153 | 364 | 0.4203 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108812 | C | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(134): Show | 140 | 364 | 0.3846 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125108813 | G | A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 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 | 125108863 | C | CT | intron_variant | MODIFIER | HG01515.hp2 HG01928.hp2 HG01978.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0011a0002c0002t0001 | a0001c0001t0005g0105a0001c0001t0005g0106a0001c0001t0005g0107others(5): Show | 8 | 364 | 0.0220 | 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 | 125108863 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(154): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(152): Show | 157 | 364 | 0.4313 | -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 | 125108863 | CTT | C | intron_variant | MODIFIER | HG02698.hp1 HG02723.hp1 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0002g0176a0002c0002t0001g0004a0002c0002t0001g0264others(2): Show | 6 | 364 | 0.0165 | -2 | c.915 others(19): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125108960 | G | A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 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 | 125109028 | C | T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 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 | 125109037 | C | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(34): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(10): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0034others(34): Show | 37 | 364 | 0.1017 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109125 | A | G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0079a0001c0001t0001g0091a0001c0001t0001g0093others(12): Show | 15 | 364 | 0.0412 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109234 | C | T | intron_variant | MODIFIER | HG02071.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047a0001c0001t0002g0156 | 2 | 364 | 0.0055 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109260 | T | C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 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 | 125109435 | C | T | intron_variant | MODIFIER | HG02922.hp2 HG03139.hp1 HG03471.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0007others(1): Show | a0001c0001t0001a0001c0015t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0162a0001c0001t0001g0163others(5): Show | 8 | 364 | 0.0220 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109522 | C | T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 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 | 125109610 | C | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(137): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(134): Show | 140 | 364 | 0.3846 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109611 | G | A | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0005 | a0001c0001t0005g0060a0001c0001t0005g0072a0001c0001t0005g0099others(1): Show | 4 | 364 | 0.0110 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109699 | G | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(127): Show | 133 | 364 | 0.3654 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125109897 | G | A | intron_variant | MODIFIER | HG00558.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281a0001c0001t0001g0282 | 2 | 364 | 0.0055 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110024 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(137): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(134): Show | 140 | 364 | 0.3846 | 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 | 125110170 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0085a0001c0001t0006g0186a0001c0001t0006g0197others(4): Show | 7 | 364 | 0.0192 | 0 | c.915 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125110188 | TTTGTGTG | T | intron_variant | MODIFIER | HG03491.hp1 HG03540.hp2 NA19090.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0228a0002c0002t0001g0118 | 3 | 364 | 0.0082 | -7 | c.915 others(24): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110188 | TTTGTGTG others(10): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 364 | 0.0028 | -17 | c.915 others(34): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110188 | TTTGTGTG others(12): Show |
T | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0243 | 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 | 125110189 | TTGTG | T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp2 HG02148.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(1): Show | a0001c0001t0001g0283a0001c0001t0001g0319a0001c0001t0011g0108others(4): Show | 7 | 364 | 0.0192 | -4 | c.915 others(21): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTG | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01928.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0172a0001c0001t0001g0258a0001c0001t0001g0282others(13): Show | 16 | 364 | 0.0440 | -6 | c.915 others(23): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0077a0001c0001t0001g0088others(37): Show | 40 | 364 | 0.1099 | -8 | c.915 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(74): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0061others(72): Show | 77 | 364 | 0.2115 | -10 | c.915 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |