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 | 115772593 | C | CTCTGTGT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0123 | 1 | 90 | 0.0111 | 18 | c.390 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03834.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0032 | a0001c0001t0001g0104 a0001c0005t0032g0005 |
2 | 8 | 0.2500 | 18 | c.401 others(37): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115868822 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0123 | 1 | 11 | 0.0909 | 18 | c.401 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115871469 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0004 a0001c0005t0007g0009 |
2 | 17 | 0.1176 | 18 | c.401 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3512107 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0012 | a0002c0012t0012 | a0002c0012t0012g0159 | 1 | 107 | 0.0093 | 18 | c.411 others(37): 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(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 |
a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0150 a0002c0004t0011g0152 |
2 | 163 | 0.0123 | 18 | c.411 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3597071 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(50): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0005c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0039 a0001c0001t0002g0086 a0001c0001t0002g0102 others(50): Show |
53 | 104 | 0.5096 | 18 | c.346 others(35): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3611269 | A | AATATTTG others(11): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 | 1 | 218 | 0.0046 | 18 | c.380 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 17 | 0.0588 | 18 | c.455 others(35): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 63 | 0.0159 | 18 | c.380 others(37): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790934 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 124 | 0.0081 | 18 | c.-49 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03579.hp1 NA20752.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0083 a0002c0002t0002g0048 a0002c0002t0002g0209 |
3 | 87 | 0.0345 | 18 | c.-49 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CATTATAT others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0196 | 1 | 22 | 0.0455 | 18 | c.589 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528854 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0013 | 1 | 299 | 0.0033 | 18 | c.394 others(37): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45734869 | A | ATATTATT others(11): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 114 | 0.0088 | 18 | c.895 others(35): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 a0001c0001t0002g0106 |
2 | 283 | 0.0071 | 18 | c.117 others(39): 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(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0104 | 1 | 282 | 0.0035 | 18 | c.117 others(39): 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(11): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03831.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 a0001c0001t0002g0101 a0001c0001t0002g0105 |
3 | 284 | 0.0106 | 18 | c.117 others(39): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 282 | 0.0035 | 18 | c.117 others(39): 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(11): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18944.hp2 |
a0003 | a0003c0002a0003c0009 | a0003c0002t0009a0003c0009t0001 | a0003c0002t0009g0094 a0003c0009t0001g0093 |
2 | 27 | 0.0741 | 18 | c.191 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0005 | a0005c0007 | a0005c0007t0005 | a0005c0007t0005g0078 | 1 | 41 | 0.0244 | 18 | c.191 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16327684 | A | ATGCTGCT others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02055.hp1 HG03139.hp2 |
a0001 | a0001c0008 | a0001c0008t0001a0001c0008t0012 | a0001c0008t0001g0009 a0001c0008t0012g0148 |
2 | 107 | 0.0187 | 18 | c.609 others(25): Show |
p.Gln others(13): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1518/10557 | 626/2448 | 209/815 | chr6 | TogoVar | |||
ATXN1_chr6_16294112_16766460 | 16395270 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 NA19030.hp1 |
a0001a0005 | a0001c0012a0005c0016 | a0001c0012t0006a0005c0016t0001 | a0001c0012t0006g0008 a0005c0016t0001g0025 |
2 | 143 | 0.0140 | 18 | c.-16 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440649 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG02257.hp1 others(6): Show |
a0001a0002a0003 | a0001c0008a0001c0012a0002c0003others(4): Show | a0001c0008t0046a0001c0012t0039a0002c0003t0033others(6): Show | a0001c0008t0046g0062 a0001c0012t0039g0041 a0002c0003t0033g0165 others(6): Show |
9 | 130 | 0.0692 | 18 | c.-16 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16504993 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0165 | 1 | 91 | 0.0110 | 18 | c.-29 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01496.hp2 HG01884.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(7): Show | a0001c0001t0002a0001c0008t0002a0001c0010t0004others(8): Show | a0001c0001t0002g0129 a0001c0008t0002g0013 a0001c0010t0004g0144 others(9): Show |
12 | 120 | 0.1000 | 18 | c.-36 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 |
a0001 | a0001c0012 | a0001c0012t0006a0001c0012t0048 | a0001c0012t0006g0113 a0001c0012t0048g0031 |
2 | 110 | 0.0182 | 18 | c.-36 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16584223 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG01257.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0010others(9): Show | a0001c0001t0001g0105 a0001c0001t0002g0020 a0001c0008t0010g0038 others(11): Show |
14 | 98 | 0.1429 | 18 | c.-36 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16606867 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0008 | 1 | 42 | 0.0238 | 18 | c.-48 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16674049 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 177 | 0.0056 | 18 | c.-61 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0001a0001c0033t0001 | a0001c0001t0001g0178 a0001c0033t0001g0012 |
2 | 11 | 0.1818 | 18 | c.-61 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0031 | a0002c0031t0010 | a0002c0031t0010g0173 | 1 | 157 | 0.0064 | 18 | c.-61 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18942.hp2 |
a0004 | a0004c0023a0004c0026 | a0004c0023t0002a0004c0026t0001 | a0004c0023t0002g0101 a0004c0026t0001g0156 |
2 | 46 | 0.0435 | 18 | c.-61 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16747799 | G | GCTAGTGA others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001a0003 | a0001c0001a0003c0021 | a0001c0001t0001a0003c0021t0014 | a0001c0001t0001g0108 a0003c0021t0014g0102 |
2 | 180 | 0.0111 | 18 | c.-61 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 a0002c0002t0001g0076 |
2 | 25 | 0.0800 | 18 | c.251 others(35): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02056.hp1 HG02148.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0021 | a0001c0001t0002a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0278 others(5): Show |
8 | 85 | 0.0941 | 18 | c.251 others(35): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111598949 | G | GGCTGCTG others(11): Show |
conservative_inframe_insertion | MODERATE | HG01943.hp2 | a0009 | a0009c0022 | a0009c0022t0003 | a0009c0022t0003g0121 | 1 | 41 | 0.0244 | 18 | c.68_ others(23): Show |
p.Gln others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071009 | C | CGCTGCTG others(11): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00642.hp2 HG00738.hp2 others(9): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0034 a0008c0008t0001g0072 a0008c0008t0001g0073 others(9): Show |
12 | 297 | 0.0404 | 18 | c.916 others(25): Show |
p.Gly others(30): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 946/6884 | 916/1086 | 306/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(11): Show |
conservative_inframe_insertion | MODERATE | HG02630.hp1 HG03579.hp1 |
a0008 | a0008c0039 | a0008c0039t0012 | a0008c0039t0012g0132 a0008c0039t0012g0133 |
2 | 103 | 0.0194 | 18 | c.898 others(25): Show |
p.Gln others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN7L1_chr7_105599772_105881599 | 105727742 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050 | a0001c0001t0005g0130 a0001c0001t0050g0252 |
2 | 250 | 0.0080 | 18 | c.355 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0002g0005 a0001c0001t0002g0201 a0001c0001t0007g0167 others(5): Show |
8 | 75 | 0.1067 | 18 | c.355 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0191 | 1 | 68 | 0.0147 | 18 | c.355 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01515.hp2 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0045 | a0001c0001t0013g0126 a0001c0001t0013g0140 a0001c0001t0018g0120 others(1): Show |
4 | 174 | 0.0230 | 18 | c.355 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03688.hp2 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0119 a0001c0001t0002g0017 a0001c0001t0003g0186 others(1): Show |
4 | 174 | 0.0230 | 18 | c.355 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATAA others(11): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 20 | 0.0500 | 18 | c.355 others(37): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG03654.hp1 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0062 | a0001c0001t0001g0000 a0001c0001t0027g0000 a0001c0001t0062g0000 |
6 | 7 | 0.8571 | 18 | c.-14 others(29): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0039 | a0002c0002t0039g0034 | 1 | 66 | 0.0152 | 18 | c.499 others(33): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63959800 | T | TTTTATGA others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0007 | a0007c0009 | a0007c0009t0045 | a0007c0009t0045g0155 | 1 | 298 | 0.0034 | 18 | c.499 others(35): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATACA others(11): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 213 | 0.0047 | 18 | c.-41 others(29): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 HG03704.hp1 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0028 |
6 | 218 | 0.0275 | 18 | c.-41 others(29): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar |