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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAAAGA others(5): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01952.hp2 HG02083.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0074a0001c0001t0001g0158a0001c0001t0001g0201others(11): Show | 14 | 382 | 0.0367 | 12 | c.-38 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAAGGA others(5): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG02040.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0115a0001c0001t0001g0120others(9): Show | 12 | 382 | 0.0314 | 12 | c.-38 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAGGGA others(5): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG03688.hp1 NA18947.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0035a0001c0001t0001g0144a0001c0001t0001g0217others(1): Show | 4 | 382 | 0.0105 | 12 | c.-38 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834902 | A | AAGGCAGG others(5): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG02071.hp2 HG02257.hp1 others(24): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0006 | a0001c0001t0001a0002c0002t0001a0007c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(21): Show | 27 | 382 | 0.0707 | 12 | c.-37 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3713 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134835338 | G | GGTAGTAG others(5): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365a0001c0001t0001g0366 | 2 | 382 | 0.0052 | 12 | c.-33 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3277 | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134840167 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02015.hp1 HG02523.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(13): Show | 16 | 382 | 0.0419 | 12 | c.57+ others(27): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134845509 | G | GTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 NA18956.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0055a0001c0001t0001g0056others(4): Show | 7 | 382 | 0.0183 | 12 | c.102 others(27): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134847397 | C | CAGATAGA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02922.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0306a0001c0001t0001g0329others(1): Show | 4 | 382 | 0.0105 | 12 | c.102 others(29): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134871678 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18949.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0220a0001c0001t0001g0225 | 3 | 382 | 0.0079 | 12 | c.676 others(27): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134871682 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03710.hp1 NA19004.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266a0001c0001t0001g0267a0001c0001t0001g0268others(3): Show | 6 | 382 | 0.0157 | 12 | c.676 others(27): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134892462 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256a0001c0001t0001g0284 | 2 | 382 | 0.0052 | 12 | c.850 others(29): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134903897 | A | ATTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(203): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(201): Show | 206 | 382 | 0.5393 | 12 | c.*20 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1864 | chr2 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32405106 | T | TAAGACTA others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02451.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0111a0001c0001t0113a0001c0002t0013others(10): Show | a0001c0001t0111g0139a0001c0001t0113g0062a0001c0002t0013g0064others(11): Show | 16 | 382 | 0.0419 | 12 | c.-22 others(27): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | chr9 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32405111 | C | CTAGGTGG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(114): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0021others(287): Show | 314 | 382 | 0.8220 | 12 | c.-22 others(27): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 1/20 | chr9 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41477129 | A | ATTATTTA others(5): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 334 | 0.0030 | 12 | c.36+ others(27): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ACO2_chr22_41464117_41533974 | 41497377 | T | TGGTTCAC others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0153a0001c0001t0002g0155a0001c0001t0002g0156others(2): Show | 5 | 334 | 0.0150 | 12 | c.37- others(27): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 1/17 | chr22 | TogoVar | ||||||
ACO2_chr22_41464117_41533974 | 41505427 | C | CAATAATA others(5): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0140 | 1 | 334 | 0.0030 | 12 | c.174 others(29): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ACOD1_chr13_76943511_76963638 | 76944257 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01978.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0020a0001c0002t0001g0061a0001c0008t0001g0035others(3): Show | 10 | 434 | 0.0230 | 12 | c.-43 others(23): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4253 | chr13 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54551732 | G | GTTTTGTT others(5): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0002a0005a0011others(1): Show | a0002c0002a0002c0015a0005c0005others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0015t0006others(3): Show | a0002c0002t0001g0188a0002c0002t0003g0028a0002c0015t0006g0085others(6): Show | 9 | 388 | 0.0232 | 12 | c.33+ others(27): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54554290 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0015 | a0002c0015t0006 | a0002c0015t0006g0185 | 1 | 388 | 0.0026 | 12 | c.33+ others(27): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54571061 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 388 | 0.0026 | 12 | c.34- others(29): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54599175 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0088 | 1 | 388 | 0.0026 | 12 | c.765 others(27): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT4_chr14_73586873_73600766 | 73594673 | G | GTTATTTA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0049 | 1 | 408 | 0.0025 | 12 | c.661 others(27): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACOT7_chr1_6259272_6398767 | 6306207 | A | AGAGGGGG others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0002a0001c0001t0004a0001c0004t0010others(1): Show | a0001c0001t0002g0139a0001c0001t0004g0188a0001c0001t0004g0189others(8): Show | 11 | 240 | 0.0458 | 12 | c.713 others(31): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6336333 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 240 | 0.0042 | 12 | c.419 others(29): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23730535 | C | CTGTCAAG others(5): Show |
conservative_inframe_insertion | MODERATE | NA18981.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0236 | 1 | 309 | 0.0032 | 12 | c.380 others(19): Show |
p.Asp others(25): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 6/16 | 523/4318 | 391/1347 | 131/448 | chrX | TogoVar | ||
ACOT9_chrX_23696055_23748276 | 23740717 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0285 | 1 | 309 | 0.0032 | 12 | c.20+ others(27): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742209 | T | TGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01943.hp1 HG02523.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0206a0001c0001t0003g0209a0001c0001t0003g0210others(8): Show | 11 | 309 | 0.0356 | 12 | c.20+ others(25): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742256 | G | GAGAGAGA others(5): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0028 | a0001c0001t0004g0227a0001c0001t0012g0075a0001c0001t0028g0076 | 3 | 309 | 0.0097 | 12 | c.20+ others(25): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75968435 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01433.hp2 others(14): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0003g0024a0001c0001t0003g0025a0001c0001t0003g0034others(14): Show | 17 | 344 | 0.0494 | 12 | c.270 others(29): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75970184 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01433.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0018others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0043a0001c0001t0003g0010a0001c0001t0003g0024others(18): Show | 21 | 344 | 0.0611 | 12 | c.269 others(29): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75978082 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp1 HG03516.hp2 |
a0003 | a0003c0006 | a0003c0006t0016 | a0003c0006t0016g0316a0003c0006t0016g0317a0003c0006t0016g0318 | 3 | 344 | 0.0087 | 12 | c.269 others(27): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58527536 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01169.hp2 HG01243.hp2 others(3): Show |
a0001 | a0001c0004a0001c0006a0001c0008 | a0001c0004t0001a0001c0006t0001a0001c0006t0002others(1): Show | a0001c0004t0001g0046a0001c0006t0001g0061a0001c0006t0002g0034others(2): Show | 6 | 364 | 0.0165 | 12 | c.115 others(29): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 9/14 | chr3 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58541624 | C | CTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00738.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(53): Show | 66 | 364 | 0.1813 | 12 | c.-45 others(23): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 4435 | chr3 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8361425 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02559.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0005g0187a0001c0002t0002g0292a0001c0003t0001g0236others(2): Show | 5 | 380 | 0.0132 | 12 | c.*55 others(23): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 4856 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8391031 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(63): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0118others(63): Show | 66 | 380 | 0.1737 | 12 | c.130 others(31): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8393490 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(87): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0272others(84): Show | 90 | 380 | 0.2368 | 12 | c.118 others(31): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8400250 | C | CAATAATA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001a0003a0004 | a0001c0003a0003c0008a0004c0023 | a0001c0003t0001a0003c0008t0001a0003c0008t0003others(1): Show | a0001c0003t0001g0228a0001c0003t0001g0249a0001c0003t0001g0250others(4): Show | 7 | 380 | 0.0184 | 12 | c.777 others(27): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 7/17 | chr4 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110768492 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011 | 2 | 150 | 0.0133 | 12 | c.75+ others(23): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110785370 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0146 | 1 | 150 | 0.0067 | 12 | c.159 others(27): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110811730 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02040.hp2 HG02080.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0086a0001c0001t0002g0118a0001c0001t0005g0149others(5): Show | 8 | 150 | 0.0533 | 12 | c.753 others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110818451 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 150 | 0.0067 | 12 | c.753 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19030.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0008a0002c0002t0001g0132a0002c0002t0002g0014 | 3 | 150 | 0.0200 | 12 | c.788 others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCGCACAC others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01517.hp1 HG02922.hp2 others(3): Show |
a0001a0006a0012 | a0001c0001a0006c0006a0012c0018 | a0001c0001t0002a0001c0001t0005a0006c0006t0001others(2): Show | a0001c0001t0002g0040a0001c0001t0002g0060a0001c0001t0005g0149others(3): Show | 6 | 150 | 0.0400 | 12 | c.788 others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110849749 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 150 | 0.0067 | 12 | c.788 others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110950810 | G | GGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0134 | 1 | 150 | 0.0067 | 12 | c.105 others(33): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110988857 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18993.hp2 NA19088.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0004a0003c0004t0001 | a0001c0001t0001g0086a0002c0002t0004g0141a0003c0004t0001g0093 | 3 | 150 | 0.0200 | 12 | c.116 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 110995499 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03831.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0113 | 2 | 150 | 0.0133 | 12 | c.117 others(29): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 150 | 0.0067 | 12 | c.128 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACOXL_chr2_110727573_111123548 | 111022421 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114a0002c0002t0001g0132 | 2 | 150 | 0.0133 | 12 | c.128 others(31): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |