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 | 125103987 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01515.hp2 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(6): Show | a0001c0001t0001g0035a0001c0001t0001g0077a0001c0001t0001g0340others(16): Show | 19 | 364 | 0.0522 | -2 | c.767 others(17): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(12): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0024 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0097others(12): Show | 15 | 364 | 0.0412 | -3 | c.767 others(18): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | -10 | c.767 others(25): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02602.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0195a0002c0002t0001g0267 | 2 | 364 | 0.0055 | -11 | c.767 others(26): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 364 | 0.0028 | -12 | c.767 others(27): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02922.hp2 HG03471.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0007a0002c0007t0001 | a0001c0001t0001g0159a0001c0001t0001g0162a0001c0001t0001g0163others(4): Show | 7 | 364 | 0.0192 | -13 | c.767 others(28): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 364 | 0.0028 | -14 | c.767 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0001c0015a0002c0010 | a0001c0001t0001a0001c0015t0001a0002c0010t0001 | a0001c0001t0001g0010a0001c0015t0001g0070a0002c0010t0001g0018 | 3 | 364 | 0.0082 | -17 | c.767 others(32): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0287a0001c0004t0001g0212a0001c0004t0001g0213others(19): Show | 22 | 364 | 0.0604 | -19 | c.767 others(34): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125104032 | T | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(131): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(129): Show | 134 | 364 | 0.3681 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104079 | C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(30): Show | 34 | 364 | 0.0934 | 0 | c.767 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104101 | G | C | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0005 | a0001c0003t0001g0053a0001c0003t0001g0354a0001c0003t0001g0355others(1): Show | 4 | 364 | 0.0110 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104174 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(185): Show | 191 | 364 | 0.5247 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104361 | G | T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0353 | 1 | 364 | 0.0028 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104431 | C | T | intron_variant | MODIFIER | NA18959.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180a0001c0001t0002g0231 | 2 | 364 | 0.0055 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104445 | A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(181): Show | 187 | 364 | 0.5137 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104530 | G | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG02015.hp2 others(17): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0012others(1): Show | a0001c0004t0001a0001c0004t0004a0001c0008t0001others(3): Show | a0001c0004t0001g0212a0001c0004t0001g0213a0001c0004t0004g0098others(17): Show | 20 | 364 | 0.0550 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104593 | G | C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 364 | 0.0028 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104600 | G | T | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(8): Show | 12 | 364 | 0.0330 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104680 | G | C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0076 | 1 | 364 | 0.0028 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104849 | A | G | intron_variant | MODIFIER | HG02257.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | 364 | 0.0055 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104854 | A | G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103a0001c0001t0005g0104 | 2 | 364 | 0.0055 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125104860 | G | A | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0025t0001g0255 | 2 | 364 | 0.0055 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105020 | A | G | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.767 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105150 | C | G | intron_variant | MODIFIER | NA18992.hp2 NA19063.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0207a0001c0001t0001g0227 | 3 | 364 | 0.0082 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105312 | C | A | intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 HG02165.hp1 others(6): Show |
a0001 | a0001c0004a0001c0008 | a0001c0004t0004a0001c0008t0001 | a0001c0004t0004g0167a0001c0004t0004g0237a0001c0004t0004g0242others(6): Show | 9 | 364 | 0.0247 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105392 | C | A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 364 | 0.0028 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105407 | G | A | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 364 | 0.0028 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105586 | 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.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105603 | G | T | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 364 | 0.0028 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105610 | G | A | intron_variant | MODIFIER | HG00733.hp2 HG03471.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0159a0002c0007t0001g0017a0002c0007t0001g0027 | 3 | 364 | 0.0082 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105716 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0039a0001c0001t0001g0161a0001c0001t0001g0169others(83): Show | 87 | 364 | 0.2390 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105750 | G | A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105809 | C | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp2 others(9): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0005others(1): Show | a0001c0003t0001a0002c0002t0005a0002c0005t0001others(1): Show | a0001c0003t0001g0053a0001c0003t0001g0354a0001c0003t0001g0355others(9): Show | 12 | 364 | 0.0330 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105837 | A | G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0004 | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(18): Show | 22 | 364 | 0.0604 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105871 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(195): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(192): Show | 198 | 364 | 0.5440 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105888 | A | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00741.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0012others(36): Show | 40 | 364 | 0.1099 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105911 | G | A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105912 | A | T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 364 | 0.0028 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125105948 | T | C | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0025 | a0001c0001t0001a0002c0025t0001 | a0001c0001t0001g0287a0002c0025t0001g0255 | 2 | 364 | 0.0055 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125106013 | G | T | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0005 | a0001c0003t0001g0053a0001c0003t0001g0354a0001c0003t0001g0355others(1): Show | 4 | 364 | 0.0110 | 0 | c.768 others(8): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125106138 | C | T | intron_variant | MODIFIER | HG03471.hp1 HG06807.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0017a0002c0007t0001g0027 | 2 | 364 | 0.0055 | 0 | c.768 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125106236 | T | C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0348a0001c0009t0001g0349 | 2 | 364 | 0.0055 | 0 | c.768 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125106406 | A | G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp1 others(56): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0001g0069others(54): Show | 59 | 364 | 0.1621 | 0 | c.768 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125106680 | A | G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 364 | 0.0028 | 0 | c.768 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125106704 | C | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01175.hp2 others(31): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0004a0001c0004t0001others(8): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(31): Show | 34 | 364 | 0.0934 | 0 | c.768 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107008 | A | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02280.hp2 others(5): Show |
a0001a0006a0007 | a0001c0001a0001c0009a0006c0013others(1): Show | a0001c0001t0001a0001c0009t0001a0006c0013t0001others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0257a0001c0001t0001g0356others(5): Show | 8 | 364 | 0.0220 | 0 | c.768 others(7): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107023 | G | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0006a0002c0005t0001 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0109others(10): Show | 13 | 364 | 0.0357 | 0 | c.768 others(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125107034 | CAG | C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0074others(5): Show | 8 | 364 | 0.0220 | -2 | c.768 others(15): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125107298 | C | T | 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(6): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | chr12 | TogoVar |