view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AR_chrX_67539021_67735619 | 67723353 | TCA | T | intron_variant | MODIFIER | HG02602.hp1 NA19086.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0002 | a0001c0001t0001g0015a0005c0007t0002g0095 | 2 | 193 | 0.0104 | -2 | c.260 others(19): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 7/7 | chrX | TogoVar | |||||||
AR_chrX_67539021_67735619 | 67728574 | AAT | A | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 HG03098.hp1 HG03710.hp1 others(3): Show |
a0002a0015a0017others(3): Show | a0002c0002a0015c0010a0017c0017others(3): Show | a0002c0002t0014a0015c0010t0014a0017c0017t0035others(3): Show | a0002c0002t0014g0027a0015c0010t0014g0006a0017c0017t0035g0159others(3): Show | 6 | 193 | 0.0311 | -2 | c.*47 others(13): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 8/8 | 4773 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AR_chrX_67539021_67735619 | 67734213 | GAA | G | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0025 | a0025c0046 | a0025c0046t0005 | a0025c0046t0005g0132 | 1 | 193 | 0.0052 | -2 | c.*10 others(15): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 3595 | chrX | TogoVar | |||||||
AS3MT_chr10_102864470_102906899 | 102877559 | CAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020a0001c0001t0021 | a0001c0001t0006g0015a0001c0001t0006g0163a0001c0001t0006g0169others(7): Show | 10 | 362 | 0.0276 | -2 | c.610 others(17): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102877748 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01109.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(76): Show | 82 | 362 | 0.2265 | -2 | c.611 others(17): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102879894 | GTA | G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0003g0001a0001c0001t0003g0004a0001c0001t0003g0005others(72): Show | 80 | 362 | 0.2210 | -2 | c.885 others(17): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102883086 | TTA | T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01516.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0020others(4): Show | a0001c0001t0006g0015a0001c0001t0006g0102a0001c0001t0006g0163others(18): Show | 21 | 362 | 0.0580 | -2 | c.885 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102883980 | CTT | C | intron_variant | MODIFIER | HG02135.hp1 HG03834.hp1 NA18940.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0016a0001c0001t0022others(2): Show | a0001c0001t0008g0034a0001c0001t0008g0035a0001c0001t0008g0042others(10): Show | 13 | 362 | 0.0359 | -2 | c.885 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888725 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01069.hp1 others(69): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(66): Show | 72 | 362 | 0.1989 | -2 | c.886 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102888851 | CTA | C | intron_variant | MODIFIER | HG01081.hp1 HG03453.hp2 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0257a0001c0001t0001g0282a0001c0001t0001g0294others(1): Show | 4 | 362 | 0.0111 | -2 | c.886 others(19): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102891948 | CAA | C | intron_variant | MODIFIER | HG01943.hp2 HG02630.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0217a0001c0001t0001g0226a0001c0001t0001g0233others(4): Show | 7 | 362 | 0.0193 | -2 | c.102 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102897386 | GAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(142): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(134): Show | 145 | 362 | 0.4006 | -2 | c.102 others(21): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102906276 | AAT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01106.hp1 HG01167.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(38): Show | 43 | 362 | 0.1188 | -2 | c.*55 others(13): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 4378 | chr10 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18051666 | TTA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(72): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0002g0188a0001c0001t0002g0216a0001c0001t0002g0220others(56): Show | 75 | 420 | 0.1786 | -2 | c.*58 others(13): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 4325 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18057356 | TAG | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01099.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0020others(4): Show | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0029others(34): Show | 47 | 420 | 0.1119 | -2 | c.*17 others(11): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 14/14 | 176 | chr8 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18059942 | CCT | C | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02109.hp2 others(19): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0008others(2): Show | a0003c0003t0001g0051a0003c0003t0001g0269a0003c0003t0002g0223others(12): Show | 22 | 420 | 0.0524 | -2 | c.786 others(17): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 10/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18062868 | CTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01167.hp1 others(47): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0002g0251a0001c0001t0004g0010a0001c0001t0004g0011others(36): Show | 50 | 420 | 0.1191 | -2 | c.503 others(17): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18065882 | TTG | T | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 HG02683.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0008t0006others(3): Show | a0001c0001t0001g0185a0001c0001t0006g0217a0001c0001t0006g0222others(9): Show | 16 | 420 | 0.0381 | -2 | c.382 others(19): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18065910 | GTA | G | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02280.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0008 | a0003c0003t0002g0223a0003c0003t0008g0022a0003c0003t0008g0030others(3): Show | 9 | 420 | 0.0214 | -2 | c.382 others(19): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18066422 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp1 others(124): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0002g0251a0001c0001t0004g0081a0001c0001t0007g0058others(92): Show | 127 | 420 | 0.3024 | -2 | c.382 others(17): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18066546 | CAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02647.hp2 others(10): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0033a0003c0003t0001a0003c0003t0009others(1): Show | a0002c0002t0033g0053a0003c0003t0001g0051a0003c0003t0001g0269others(6): Show | 13 | 420 | 0.0310 | -2 | c.382 others(17): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 5/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18069140 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0005 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(84): Show | 131 | 420 | 0.3119 | -2 | c.303 others(17): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ASAH2B_chr10_50734936_50764255 | 50749595 | CAT | C | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0027a0001c0001t0054a0001c0001t0058others(3): Show | a0001c0001t0027g0059a0001c0001t0027g0060a0001c0001t0054g0062others(4): Show | 7 | 414 | 0.0169 | -2 | c.204 others(17): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH2B_chr10_50734936_50764255 | 50754891 | GGT | G | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0016a0002c0002t0020others(4): Show | a0001c0001t0020g0010a0002c0002t0016g0022a0002c0002t0016g0066others(7): Show | 13 | 414 | 0.0314 | -2 | c.*19 others(11): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 6/6 | 196 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASAH2_chr10_50179861_50256516 | 50185075 | CCT | C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01943.hp2 HG02300.hp1 |
a0001 | a0001c0004 | a0001c0004t0034 | a0001c0004t0034g0276a0001c0004t0034g0279a0001c0004t0034g0280 | 3 | 408 | 0.0074 | -2 | c.*22 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 2238 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50187118 | TCA | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02027.hp1 HG02129.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0080a0001c0004t0090a0002c0001t0035others(1): Show | a0001c0002t0080g0274a0001c0004t0090g0348a0002c0001t0035g0251others(3): Show | 6 | 408 | 0.0147 | -2 | c.*19 others(11): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 195 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50192454 | TTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(19): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(136): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(330): Show | 373 | 408 | 0.9142 | -2 | c.206 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 19/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50198064 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(48): Show |
a0002a0010 | a0002c0001a0002c0022a0002c0024others(1): Show | a0002c0001t0008a0002c0001t0017a0002c0001t0018others(17): Show | a0002c0001t0008g0123a0002c0001t0008g0309a0002c0001t0008g0313others(46): Show | 51 | 408 | 0.1250 | -2 | c.185 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50198991 | TAC | T | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0002a0001c0010a0001c0015 | a0001c0002t0028a0001c0002t0049a0001c0002t0080others(3): Show | a0001c0002t0028g0006a0001c0002t0028g0303a0001c0002t0049g0031others(4): Show | 10 | 408 | 0.0245 | -2 | c.185 others(17): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 17/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50206537 | TAC | T | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp2 HG02300.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0010 | a0001c0002t0003a0001c0004t0033a0001c0004t0034others(1): Show | a0001c0002t0003g0093a0001c0004t0033g0278a0001c0004t0034g0276others(3): Show | 6 | 408 | 0.0147 | -2 | c.141 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 12/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50212182 | AAC | A | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG02895.hp2 others(2): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0007a0003c0003t0001 | a0002c0001t0007g0044a0003c0003t0001g0119a0003c0003t0001g0120others(2): Show | 5 | 408 | 0.0123 | -2 | c.122 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 10/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50216308 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0007a0001c0011others(11): Show | a0001c0004t0006a0001c0004t0012a0001c0004t0013others(86): Show | a0001c0004t0006g0018a0001c0004t0006g0282a0001c0004t0006g0292others(238): Show | 267 | 408 | 0.6544 | -2 | c.101 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 8/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50216673 | TTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0007a0001c0011others(11): Show | a0001c0004t0006a0001c0004t0012a0001c0004t0013others(87): Show | a0001c0004t0006g0018a0001c0004t0006g0282a0001c0004t0006g0292others(244): Show | 273 | 408 | 0.6691 | -2 | c.101 others(21): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 8/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50220497 | GCT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(19): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(136): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(330): Show | 373 | 408 | 0.9142 | -2 | c.894 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50220836 | CAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(77): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0005a0001c0009others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(35): Show | a0001c0002t0001g0012a0001c0002t0001g0083a0001c0002t0001g0095others(64): Show | 80 | 408 | 0.1961 | -2 | c.894 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50221629 | GTA | G | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG00741.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0011a0002c0006others(2): Show | a0001c0004t0006a0001c0004t0013a0001c0004t0033others(11): Show | a0001c0004t0006g0018a0001c0004t0006g0282a0001c0004t0006g0292others(25): Show | 29 | 408 | 0.0711 | -2 | c.894 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50221631 | ATG | A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0009a0001c0002t0025a0001c0005t0025 | a0001c0002t0009g0347a0001c0002t0025g0346a0001c0005t0025g0007others(1): Show | 5 | 408 | 0.0123 | -2 | c.894 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50221662 | TAG | T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02559.hp2 others(3): Show |
a0001a0003 | a0001c0004a0001c0007a0001c0011others(1): Show | a0001c0004t0020a0001c0007t0020a0001c0007t0038others(2): Show | a0001c0004t0020g0290a0001c0004t0020g0291a0001c0007t0020g0356others(3): Show | 6 | 408 | 0.0147 | -2 | c.894 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50239828 | ATT | A | intron_variant | MODIFIER | HG01192.hp1 HG02559.hp2 HG02622.hp1 others(7): Show |
a0001a0002a0008 | a0001c0002a0001c0007a0001c0010others(2): Show | a0001c0002t0022a0001c0002t0080a0001c0002t0118others(5): Show | a0001c0002t0022g0073a0001c0002t0080g0274a0001c0002t0118g0301others(7): Show | 10 | 408 | 0.0245 | -2 | c.510 others(19): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50254335 | CAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0044a0001c0002t0080a0001c0004t0006others(36): Show | a0001c0002t0044g0011a0001c0002t0080g0274a0001c0004t0006g0282others(85): Show | 96 | 408 | 0.2353 | -2 | c.-29 others(13): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 2820 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050114 | CAT | C | downstream_gene_variant | MODIFIER | HG02080.hp1 NA18950.hp2 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0160a0002c0002t0002g0161a0002c0002t0003g0126 | 3 | 308 | 0.0097 | -2 | c.*46 others(13): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1989 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050151 | AAT | A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG02004.hp1 NA18906.hp2 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0001 | a0002c0002t0003g0129a0002c0003t0001g0019a0002c0003t0001g0025others(1): Show | 4 | 308 | 0.0130 | -2 | c.*45 others(13): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1952 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050192 | AAT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG02080.hp2 others(4): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0069a0002c0002t0001g0070a0002c0002t0001g0079others(4): Show | 7 | 308 | 0.0227 | -2 | c.*45 others(13): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1911 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130060562 | AAC | A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0245a0001c0005t0001g0166others(6): Show | 9 | 308 | 0.0292 | -2 | c.319 others(17): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 28/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130061670 | CCT | C | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0025a0001c0009t0001 | a0001c0001t0001g0278a0001c0001t0001g0280a0001c0001t0001g0281others(2): Show | 5 | 308 | 0.0162 | -2 | c.270 others(19): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130064893 | ATG | A | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00735.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0042a0001c0001t0001g0047a0001c0001t0001g0048others(18): Show | 21 | 308 | 0.0682 | -2 | c.270 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070848 | GGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(130): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(22): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0016others(130): Show | 133 | 308 | 0.4318 | -2 | c.270 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130070866 | GGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(122): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0016others(122): Show | 125 | 308 | 0.4058 | -2 | c.270 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071005 | AGG | A | intron_variant | MODIFIER | HG00738.hp2 HG02004.hp1 HG02040.hp1 others(8): Show |
a0001a0002 | a0001c0005a0002c0002a0002c0003 | a0001c0005t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0005t0001g0166a0002c0002t0001g0160a0002c0002t0002g0161others(8): Show | 11 | 308 | 0.0357 | -2 | c.270 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130073217 | CCT | C | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174a0001c0001t0002g0190a0001c0001t0002g0191others(1): Show | 4 | 308 | 0.0130 | -2 | c.270 others(21): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar |