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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77716323 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 NA18952.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0092a0001c0001t0002g0100a0001c0001t0002g0215others(1): Show | 4 | 218 | 0.0184 | -10 | c.133 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77749978 | CAATAGTA others(3): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 218 | 0.0046 | -10 | c.21- others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77777380 | CAACAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0001 | a0001c0001t0003g0112a0001c0012t0001g0111 | 2 | 218 | 0.0092 | -10 | c.20+ others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77786905 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 218 | 0.0046 | -10 | c.-91 others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790932 | GTGTATAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02257.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0087a0001c0001t0003g0084a0001c0001t0003g0088others(8): Show | 11 | 218 | 0.0505 | -10 | c.-49 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4717 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142472085 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02135.hp2 HG02523.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0171a0003c0003t0001g0178a0003c0003t0001g0184 | 3 | 322 | 0.0093 | -10 | c.622 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 322 | 0.0031 | -10 | c.589 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142544452 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0299 | 1 | 322 | 0.0031 | -10 | c.335 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142565733 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0156 | 1 | 322 | 0.0031 | -10 | c.292 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 3/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142572372 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 322 | 0.0031 | -10 | c.60- others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45721919 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02258.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(11): Show | 14 | 316 | 0.0443 | -10 | c.728 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740679 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03195.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0209a0001c0001t0001g0274 | 3 | 316 | 0.0095 | -10 | c.117 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751739 | GGAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01168.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0271a0001c0001t0001g0297a0001c0001t0003g0125others(4): Show | 7 | 316 | 0.0222 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751745 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 316 | 0.0032 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751759 | AAAAAAAT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0295 | 2 | 316 | 0.0063 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 316 | 0.0032 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45795354 | GATTCTAT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0017others(43): Show | 46 | 316 | 0.1456 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45819192 | AAATAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01981.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0010a0001c0001t0001g0051a0001c0001t0001g0147others(17): Show | 20 | 316 | 0.0633 | -10 | c.123 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45827129 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0068a0001c0001t0001g0071a0001c0001t0001g0081others(159): Show | 162 | 316 | 0.5127 | -10 | c.123 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16296660 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02723.hp1 others(2): Show |
a0001a0003a0005others(2): Show | a0001c0052a0003c0003a0005c0006others(2): Show | a0001c0052t0047a0003c0003t0009a0005c0006t0009others(2): Show | a0001c0052t0047g0060a0003c0003t0009g0055a0005c0006t0009g0163others(2): Show | 5 | 182 | 0.0275 | -10 | c.*96 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2451 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0021 | 1 | 182 | 0.0055 | -10 | c.191 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0027a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0103a0001c0001t0001g0123a0001c0001t0002g0020others(36): Show | 39 | 182 | 0.2143 | -10 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16443208 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0023 | a0023c0034 | a0023c0034t0002 | a0023c0034t0002g0124 | 1 | 182 | 0.0055 | -10 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16480154 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02056.hp1 NA18944.hp1 NA18957.hp2 others(2): Show |
a0002a0004a0008others(2): Show | a0002c0002a0004c0005a0008c0012others(2): Show | a0002c0002t0041a0004c0005t0002a0008c0012t0005others(2): Show | a0002c0002t0041g0079a0004c0005t0002g0177a0008c0012t0005g0078others(2): Show | 5 | 182 | 0.0275 | -10 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16581195 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02451.hp1 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0028a0001c0029a0002c0002others(11): Show | a0001c0028t0015a0001c0029t0048a0002c0002t0003others(14): Show | a0001c0028t0015g0017a0001c0029t0048g0031a0002c0002t0003g0133others(16): Show | 19 | 182 | 0.1044 | -10 | c.-36 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584237 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp2 NA20300.hp1 |
a0002a0017 | a0002c0002a0017c0022 | a0002c0002t0008a0017c0022t0001 | a0002c0002t0008g0116a0017c0022t0001g0146 | 2 | 182 | 0.0110 | -10 | c.-36 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16654557 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0029 | a0001c0029t0039 | a0001c0029t0039g0041 | 1 | 182 | 0.0055 | -10 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16654559 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(68): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0027a0001c0028others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(49): Show | a0001c0001t0001g0037a0001c0001t0002g0020a0001c0001t0002g0129others(68): Show | 71 | 182 | 0.3901 | -10 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16684672 | TTTGCATT others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0033 | a0033c0044 | a0033c0044t0024 | a0033c0044t0024g0048 | 1 | 182 | 0.0055 | -10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18522.hp1 |
a0004a0018 | a0004c0015a0018c0056 | a0004c0015t0001a0018c0056t0007 | a0004c0015t0001g0157a0018c0056t0007g0011 | 2 | 182 | 0.0110 | -10 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0002t0001g0007a0001c0002t0001g0019 | 6 | 382 | 0.0157 | -10 | c.-32 others(19): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | GCCCCCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02895.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0015others(3): Show | 8 | 382 | 0.0209 | -10 | c.-32 others(19): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483188 | AACACATA others(3): Show |
A | intron_variant | MODIFIER | HG01943.hp2 NA18986.hp1 |
a0002a0019 | a0002c0002a0019c0027 | a0002c0002t0001a0019c0027t0003 | a0002c0002t0001g0027a0019c0027t0003g0207 | 2 | 298 | 0.0067 | -10 | c.252 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483452 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
a0003a0007a0018 | a0003c0004a0007c0015a0018c0028 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(2): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(11): Show | 14 | 298 | 0.0470 | -10 | c.252 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111568991 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | NA18979.hp2 NA19058.hp1 |
a0001a0020 | a0001c0003a0020c0025 | a0001c0003t0001a0020c0025t0001 | a0001c0003t0001g0197a0020c0025t0001g0121 | 2 | 298 | 0.0067 | -10 | c.252 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111584377 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02683.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0002a0001c0003t0001a0003c0005t0001 | a0001c0001t0002g0254a0001c0003t0001g0158a0003c0005t0001g0203others(2): Show | 5 | 298 | 0.0168 | -10 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111585801 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG02055.hp1 others(27): Show |
a0001a0003a0006others(6): Show | a0001c0012a0003c0004a0003c0006others(9): Show | a0001c0012t0001a0003c0004t0003a0003c0004t0005others(12): Show | a0001c0012t0001g0188a0003c0004t0003g0088a0003c0004t0003g0089others(27): Show | 30 | 298 | 0.1007 | -10 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111596205 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(9): Show |
a0003a0007a0014 | a0003c0004a0003c0007a0007c0015others(1): Show | a0003c0004t0003a0003c0004t0005a0003c0007t0003others(2): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(9): Show | 12 | 298 | 0.0403 | -10 | c.251 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92075156 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(134): Show |
a0003a0006a0008others(30): Show | a0003c0003a0006c0005a0006c0051others(32): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(75): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(130): Show | 137 | 402 | 0.3408 | -10 | c.873 others(27): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0185a0001c0001t0045g0190 | 2 | 252 | 0.0079 | -10 | c.*35 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0155 | 1 | 252 | 0.0040 | -10 | c.151 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02896.hp1 HG02896.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0145a0001c0001t0003g0147a0001c0001t0007g0057others(6): Show | 9 | 252 | 0.0357 | -10 | c.151 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105662053 | TCCTTCCT others(3): Show |
T | intron_variant | MODIFIER | HG02300.hp2 NA18970.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0082a0001c0001t0011g0012a0001c0001t0011g0157others(1): Show | 4 | 252 | 0.0159 | -10 | c.578 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105671104 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0004g0039others(2): Show | 5 | 252 | 0.0198 | -10 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105704584 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0006a0001c0001t0013a0001c0001t0021others(3): Show | a0001c0001t0006g0116a0001c0001t0013g0156a0001c0001t0021g0227others(3): Show | 6 | 252 | 0.0238 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(17): Show |
a0001a0005a0007 | a0001c0001a0005c0011a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0003a0001c0001t0003g0150a0001c0001t0005g0182others(17): Show | 20 | 252 | 0.0794 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722888 | GAAATAAA others(3): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0205a0001c0001t0001g0222a0001c0001t0007g0218others(6): Show | 9 | 252 | 0.0357 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0156 | 1 | 252 | 0.0040 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0210 | 1 | 252 | 0.0040 | -10 | c.355 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02818.hp1 HG03579.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0181a0001c0001t0003g0029a0001c0001t0005g0182others(1): Show | 4 | 252 | 0.0159 | -10 | c.355 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar |