view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115713449 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0015a0001c0001t0022a0001c0002t0005others(2): Show | a0001c0001t0015g0062 a0001c0001t0022g0032 a0001c0002t0005g0036 others(7): Show |
10 | 78 | 0.1282 | 16 | c.379 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713453 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0120 | 1 | 126 | 0.0079 | 16 | c.379 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713461 | G | GTGTGTTT others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(8): Show | a0001c0001t0002g0014 a0001c0001t0011g0114 a0001c0001t0013g0018 others(10): Show |
13 | 96 | 0.1354 | 16 | c.379 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713675 | T | TTCTATCT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0013 a0001c0001t0010g0034 |
2 | 87 | 0.0230 | 16 | c.379 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713705 | C | CTATCTAT others(9): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0076 | 1 | 54 | 0.0185 | 16 | c.379 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115713705 | C | CTATCTAT others(9): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0015a0001c0003t0038 | a0001c0001t0003g0111 a0001c0003t0015g0124 a0001c0003t0038g0122 |
3 | 56 | 0.0536 | 16 | c.379 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115723534 | G | GTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01081.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 others(24): Show |
27 | 76 | 0.3553 | 16 | c.379 others(35): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115738125 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0090 | 1 | 111 | 0.0090 | 16 | c.390 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115738154 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18994.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0046 | a0001c0001t0006g0103 a0001c0001t0046g0106 |
2 | 91 | 0.0220 | 16 | c.390 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115772593 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0104 a0001c0001t0003g0073 |
2 | 91 | 0.0220 | 16 | c.390 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115788382 | T | TTTTTCTT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00735.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(13): Show | a0001c0001t0002g0014 a0001c0001t0002g0115 a0001c0001t0002g0116 others(18): Show |
21 | 126 | 0.1667 | 16 | c.390 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115802021 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0047 | a0001c0001t0002g0014 a0001c0003t0047g0128 |
2 | 118 | 0.0169 | 16 | c.390 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115815415 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 10 | 0.1000 | 16 | c.390 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115868822 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0111 a0001c0001t0008g0084 |
2 | 12 | 0.1667 | 16 | c.401 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3485610 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0006 | a0001c0006t0020 | a0001c0006t0020g0180 | 1 | 43 | 0.0233 | 16 | c.410 others(35): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3519006 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02615.hp2 others(2): Show |
a0002 | a0002c0004a0002c0012 | a0002c0004t0004a0002c0012t0012a0002c0012t0019 | a0002c0004t0004g0157 a0002c0004t0004g0160 a0002c0004t0004g0162 others(2): Show |
5 | 166 | 0.0301 | 16 | c.411 others(35): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3554990 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0218 | 1 | 12 | 0.0833 | 16 | c.111 others(35): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0005 | a0001c0005t0038 | a0001c0005t0038g0189 | 1 | 35 | 0.0286 | 16 | c.221 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01433.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0030 a0001c0002t0006g0099 |
2 | 36 | 0.0556 | 16 | c.221 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00738.hp2 others(45): Show |
a0001a0004a0015 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(11): Show | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 others(45): Show |
48 | 82 | 0.5854 | 16 | c.221 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG02015.hp1 others(7): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0016others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0005g0035 others(7): Show |
10 | 44 | 0.2273 | 16 | c.221 others(33): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77556211 | A | AAGGGAGA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01975.hp2 HG02015.hp1 others(14): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0104 a0001c0001t0002g0140 a0001c0001t0002g0177 others(14): Show |
17 | 104 | 0.1635 | 16 | c.669 others(35): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01099.hp1 NA18986.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 a0002c0002t0001g0040 |
2 | 12 | 0.1667 | 16 | c.621 others(35): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0094 a0001c0001t0006g0214 |
2 | 18 | 0.1111 | 16 | c.455 others(33): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAATATA others(9): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 63 | 0.0159 | 16 | c.380 others(35): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77767236 | G | GGAGAGGG others(9): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 205 | 0.0049 | 16 | c.20+ others(33): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790934 | G | GTATATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 124 | 0.0081 | 16 | c.-49 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01070.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0184 a0001c0001t0003g0163 a0001c0001t0003g0182 others(18): Show |
21 | 105 | 0.2000 | 16 | c.-49 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142472085 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0195 | 1 | 92 | 0.0109 | 16 | c.622 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CATTATAT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0113 a0001c0008t0001g0195 a0001c0008t0001g0197 others(3): Show |
6 | 27 | 0.2222 | 16 | c.589 others(31): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142497573 | T | TAATAAAT others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0195 a0001c0008t0001g0196 a0001c0008t0001g0197 others(3): Show |
6 | 240 | 0.0250 | 16 | c.555 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 32/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142516984 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 NA20129.hp1 |
a0001a0004 | a0001c0004a0004c0009 | a0001c0004t0001a0004c0009t0001 | a0001c0004t0001g0147 a0004c0009t0001g0148 |
2 | 153 | 0.0131 | 16 | c.438 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528854 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02970.hp1 HG02976.hp1 |
a0001a0009 | a0001c0006a0009c0014 | a0001c0006t0001a0009c0014t0001 | a0001c0006t0001g0010 a0001c0006t0001g0011 a0009c0014t0001g0033 |
3 | 301 | 0.0100 | 16 | c.394 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0008 | 1 | 99 | 0.0101 | 16 | c.394 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0115 |
2 | 113 | 0.0177 | 16 | c.335 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45727331 | A | ATATCTAT others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 HG04199.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0067 a0001c0001t0001g0182 |
3 | 51 | 0.0588 | 16 | c.729 others(33): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45740719 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0291 | 1 | 212 | 0.0047 | 16 | c.117 others(33): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 282 | 0.0035 | 16 | c.117 others(37): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45773445 | A | ATTATTTA others(9): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 211 | 0.0047 | 16 | c.117 others(37): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18960.hp1 NA18973.hp2 |
a0003a0004a0005 | a0003c0009a0004c0006a0005c0017 | a0003c0009t0001a0004c0006t0009a0005c0017t0001 | a0003c0009t0001g0084 a0004c0006t0009g0110 a0005c0017t0001g0074 |
3 | 28 | 0.1071 | 16 | c.191 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0003 | a0003c0013 | a0003c0013t0007 | a0003c0013t0007g0022 | 1 | 41 | 0.0244 | 16 | c.191 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16395270 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG06807.hp1 HG06807.hp2 |
a0002a0004 | a0002c0003a0004c0037 | a0002c0003t0031a0004c0037t0001 | a0002c0003t0031g0058 a0004c0037t0001g0016 |
2 | 143 | 0.0140 | 16 | c.-16 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440649 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01070.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0044others(16): Show | a0001c0001t0001g0045 a0001c0001t0001g0108 a0001c0001t0010g0128 others(19): Show |
22 | 143 | 0.1538 | 16 | c.-16 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0091 | 1 | 43 | 0.0233 | 16 | c.-16 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01361.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0019others(5): Show | a0001c0001t0010a0001c0001t0011a0001c0012t0039others(6): Show | a0001c0001t0010g0128 a0001c0001t0011g0131 a0001c0012t0039g0041 others(7): Show |
10 | 118 | 0.0847 | 16 | c.-36 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0165 | 1 | 109 | 0.0092 | 16 | c.-36 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16581195 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0028 | a0005c0028t0003 | a0005c0028t0003g0149 | 1 | 110 | 0.0091 | 16 | c.-36 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16584223 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01496.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0030a0001c0010t0004others(11): Show | a0001c0001t0001g0123 a0001c0001t0030g0021 a0001c0010t0004g0069 others(15): Show |
18 | 102 | 0.1765 | 16 | c.-36 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02896.hp2 |
a0002 | a0002c0004a0002c0031 | a0002c0004t0002a0002c0031t0010 | a0002c0004t0002g0164 a0002c0031t0010g0173 |
2 | 130 | 0.0154 | 16 | c.-48 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19009.hp2 |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0031a0004c0006t0002 | a0002c0003t0031g0058 a0004c0006t0002g0040 |
2 | 11 | 0.1818 | 16 | c.-61 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar |