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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9A_chr20_51591514_51773390 | 51743396 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0013a0001c0002t0002others(12): Show | a0001c0001t0012g0161 a0001c0001t0013g0001 a0001c0002t0002g0164 others(13): Show |
16 | 78 | 0.2051 | 9 | c.69- others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51765642 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01106.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0029 others(46): Show |
49 | 243 | 0.2016 | 9 | c.68+ others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071049 | C | CTTTTTTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0004 | a0001c0006a0001c0038a0001c0039others(2): Show | a0001c0006t0003a0001c0006t0004a0001c0038t0001others(3): Show | a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0004g0273 others(9): Show |
13 | 162 | 0.0802 | 9 | c.119 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02738.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0011others(2): Show | a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0003t0003g0120 others(8): Show |
11 | 12 | 0.9167 | 9 | c.120 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79334401 | T | TAGTTTGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(113): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
116 | 296 | 0.3919 | 9 | c.202 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF1_chr1_46627737_46673364 | 46654528 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0012 a0001c0001t0002g0049 a0001c0001t0002g0050 others(9): Show |
20 | 210 | 0.0952 | 9 | c.490 others(24): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
ATPAF2_chr17_18013021_18044168 | 18019186 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01934.hp2 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0144 a0001c0001t0001g0167 others(1): Show |
4 | 316 | 0.0127 | 9 | c.733 others(24): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115403257 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 others(3): Show |
6 | 41 | 0.1463 | 9 | c.326 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115448854 | C | CCAACAAC others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0008a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0008g0013 a0001c0001t0014g0001 a0001c0001t0043g0098 others(2): Show |
5 | 76 | 0.0658 | 9 | c.332 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115521138 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02572.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0008a0001c0001t0016a0001c0001t0017others(10): Show | a0001c0001t0008g0030 a0001c0001t0016g0031 a0001c0001t0017g0028 others(10): Show |
13 | 49 | 0.2653 | 9 | c.371 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115637603 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01123.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0088 others(27): Show |
30 | 51 | 0.5882 | 9 | c.379 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115682669 | T | TATGGTGA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(7): Show | a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 others(9): Show |
12 | 107 | 0.1122 | 9 | c.379 others(30): 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(2): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0041 | a0001c0001t0003g0059 a0001c0003t0041g0045 |
2 | 55 | 0.0364 | 9 | c.379 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115717548 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01081.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0067 others(21): Show |
24 | 74 | 0.3243 | 9 | c.379 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115738126 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0020a0001c0005t0007 | a0001c0001t0020g0117 a0001c0005t0007g0002 a0001c0005t0007g0004 others(1): Show |
4 | 60 | 0.0667 | 9 | c.390 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0007a0001c0015t0034 | a0001c0001t0003g0059 a0001c0001t0007g0027 a0001c0015t0034g0096 |
3 | 46 | 0.0652 | 9 | c.390 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0094 a0001c0001t0006g0103 a0001c0001t0007g0027 others(6): Show |
9 | 15 | 0.6000 | 9 | c.401 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3484909 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp2 others(3): Show |
a0001a0008 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0002a0001c0005t0007a0001c0006t0003others(2): Show | a0001c0003t0002g0214 a0001c0005t0007g0213 a0001c0006t0003g0211 others(3): Show |
6 | 108 | 0.0556 | 9 | c.410 others(28): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0197 a0001c0001t0002g0157 a0001c0001t0002g0177 others(6): Show |
9 | 25 | 0.3600 | 9 | c.455 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02602.hp1 HG04184.hp2 NA18969.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0162 a0001c0001t0003g0163 a0002c0002t0002g0106 |
3 | 65 | 0.0462 | 9 | c.380 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45734869 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0080 others(13): Show |
16 | 129 | 0.1240 | 9 | c.895 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02258.hp1 HG02258.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0020a0001c0033a0002c0003others(5): Show | a0001c0020t0015a0001c0033t0001a0002c0003t0009others(6): Show | a0001c0020t0015g0017 a0001c0033t0001g0012 a0002c0003t0009g0055 others(6): Show |
9 | 49 | 0.1837 | 9 | c.191 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16327684 | A | ATGCTGAT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG01070.hp1 HG02451.hp2 |
a0002a0005 | a0002c0011a0005c0007 | a0002c0011t0042a0005c0007t0001a0005c0007t0019 | a0002c0011t0042g0026 a0005c0007t0001g0098 a0005c0007t0019g0001 |
3 | 108 | 0.0278 | 9 | c.626 others(16): Show |
p.Gln others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1518/10557 | 626/2448 | 209/815 | chr6 | TogoVar | |||
ATXN1_chr6_16294112_16766460 | 16368343 | C | CTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02809.hp2 others(3): Show |
a0001a0002a0003 | a0001c0008a0002c0004a0003c0002 | a0001c0008t0040a0002c0004t0002a0003c0002t0003others(1): Show | a0001c0008t0040g0154 a0002c0004t0002g0164 a0003c0002t0003g0007 others(3): Show |
6 | 36 | 0.1667 | 9 | c.-16 others(30): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TACACACA others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02630.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0010a0001c0032a0002c0004 | a0001c0010t0014a0001c0032t0018a0002c0004t0002others(1): Show | a0001c0010t0014g0082 a0001c0032t0018g0059 a0002c0004t0002g0028 others(1): Show |
4 | 71 | 0.0563 | 9 | c.-16 others(30): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16491258 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0008t0040others(16): Show | a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0005g0085 others(20): Show |
23 | 89 | 0.2584 | 9 | c.-29 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02809.hp2 others(7): Show |
a0003a0004a0011others(1): Show | a0003c0004a0003c0006a0004c0020others(2): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(4): Show | a0003c0004t0003g0009 a0003c0004t0003g0015 a0003c0004t0003g0016 others(7): Show |
10 | 155 | 0.0645 | 9 | c.193 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553600 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0003a0003c0004t0005a0003c0006t0003 | a0003c0004t0003g0013 a0003c0004t0003g0023 a0003c0004t0005g0006 others(2): Show |
5 | 250 | 0.0200 | 9 | c.348 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576132 | T | TAACATAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02976.hp1 others(1): Show |
a0003a0010 | a0003c0004a0010c0015 | a0003c0004t0003a0003c0004t0005a0010c0015t0003 | a0003c0004t0003g0013 a0003c0004t0003g0023 a0003c0004t0005g0007 others(1): Show |
4 | 263 | 0.0152 | 9 | c.252 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG02074.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0033 a0002c0002t0001g0048 a0002c0002t0001g0049 others(10): Show |
13 | 90 | 0.1444 | 9 | c.251 others(26): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92076939 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 HG02080.hp2 others(26): Show |
a0004a0006a0008others(9): Show | a0004c0003a0006c0005a0006c0051others(11): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0045others(16): Show | a0004c0003t0001g0044 a0004c0003t0001g0079 a0004c0003t0001g0086 others(25): Show |
29 | 249 | 0.1165 | 9 | c.872 others(26): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(19): Show |
a0004a0006a0008others(7): Show | a0004c0003a0006c0005a0008c0008others(9): Show | a0004c0003t0001a0004c0003t0002a0006c0005t0001others(13): Show | a0004c0003t0001g0044 a0004c0003t0001g0086 a0004c0003t0002g0082 others(19): Show |
22 | 200 | 0.1100 | 9 | c.475 others(26): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00738.hp2 others(45): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0043 others(45): Show |
48 | 58 | 0.8276 | 9 | c.151 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02132.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0052 | a0001c0001t0002g0074 a0001c0001t0002g0106 a0001c0001t0052g0036 |
3 | 224 | 0.0134 | 9 | c.151 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105641214 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG02148.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0150 a0001c0001t0002g0078 others(6): Show |
9 | 36 | 0.2500 | 9 | c.862 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02965.hp1 HG03239.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0009a0001c0001t0040others(1): Show | a0001c0001t0008g0046 a0001c0001t0009g0013 a0001c0001t0040g0110 others(1): Show |
4 | 44 | 0.0909 | 9 | c.356 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727767 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03942.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0041others(1): Show | a0001c0001t0002g0181 a0001c0001t0013g0019 a0001c0001t0041g0138 others(1): Show |
4 | 195 | 0.0205 | 9 | c.355 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0090 a0001c0001t0001g0217 a0001c0001t0001g0243 others(22): Show |
25 | 44 | 0.5682 | 9 | c.355 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105787065 | A | ACCACCAG others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00642.hp1 others(168): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0029 others(168): Show |
171 | 250 | 0.6840 | 9 | c.355 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L2_chr1_109478905_109497734 | 109482858 | C | CGGCGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00733.hp1 others(96): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(19): Show |
99 | 317 | 0.3123 | 9 | c.-10 others(20): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1046 | chr1 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCAGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00735.hp2 HG01257.hp1 NA18970.hp1 |
a0009 | a0009c0016a0009c0023 | a0009c0016t0003a0009c0016t0027a0009c0023t0003 | a0009c0016t0003g0202 a0009c0016t0027g0199 a0009c0023t0003g0179 |
3 | 209 | 0.0144 | 9 | c.110 others(16): Show |
p.Gln others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 521/7076 | 119/2679 | 40/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ATXN7_chr3_63858867_64008462 | 63912714 | A | AGCCGCAG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp1 HG03209.hp2 HG03540.hp1 |
a0010 | a0010c0014 | a0010c0014t0018a0010c0014t0032 | a0010c0014t0018g0007 a0010c0014t0018g0008 a0010c0014t0032g0010 |
3 | 290 | 0.0103 | 9 | c.121 others(16): Show |
p.Pro others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 524/7076 | 122/2679 | 41/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 69917822 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02258.hp1 HG02647.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(2): Show | a0001c0001t0001g0026 a0001c0001t0003g0072 a0001c0001t0023g0075 others(2): Show |
5 | 34 | 0.1471 | 9 | c.522 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69996946 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 others(8): Show |
11 | 37 | 0.2973 | 9 | c.522 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70254420 | C | CTTCTTGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(43): Show |
46 | 76 | 0.6053 | 9 | c.660 others(30): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70338833 | C | CTTTATTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0034 a0001c0001t0006g0038 a0001c0001t0014g0070 |
3 | 8 | 0.3750 | 9 | c.661 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70496220 | A | ACACCCCA others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0032 a0001c0001t0004g0054 a0001c0001t0018g0001 |
3 | 76 | 0.0395 | 9 | c.690 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70496448 | A | ACACCCCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(26): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0035 others(26): Show |
29 | 76 | 0.3816 | 9 | c.690 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70615565 | C | CTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01934.hp1 HG02165.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(2): Show | a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0004g0042 others(3): Show |
6 | 24 | 0.2500 | 9 | c.691 others(28): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70768877 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0073 a0001c0001t0004g0056 a0001c0001t0006g0010 others(5): Show |
8 | 39 | 0.2051 | 9 | c.173 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |