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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8B1_chr18_57641426_57808315 | 57679395 | TAAAAACA others(6): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 312 | 0.0032 | -13 | c.163 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57692425 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0004 | 1 | 55 | 0.0182 | -13 | c.103 others(30): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 11/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57695029 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 | 1 | 150 | 0.0067 | -13 | c.940 others(28): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 10/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(82): Show |
85 | 153 | 0.5556 | -13 | c.-25 others(32): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154355218 | AAACACAC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 379 | 0.0026 | -13 | c.*61 others(24): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3915 | chr1 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49877662 | TCTTAAAC others(6): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0031a0003c0003t0004a0006c0006t0004others(1): Show | a0001c0001t0031g0242 a0003c0003t0004g0013 a0003c0003t0004g0016 others(4): Show |
7 | 252 | 0.0278 | -13 | c.278 others(32): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 24/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085932 | TATATTTA others(6): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 |
3 | 252 | 0.0119 | -13 | c.29- others(30): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG02572.hp2 HG02647.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0110 a0001c0001t0003g0237 a0001c0001t0003g0238 others(5): Show |
8 | 15 | 0.5333 | -13 | c.28+ others(28): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51642725 | CCAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(125): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 others(125): Show |
128 | 224 | 0.5714 | -13 | c.150 others(32): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51642726 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03225.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0049a0001c0002t0050a0001c0003t0007 | a0001c0002t0049g0091 a0001c0002t0050g0090 a0001c0003t0007g0220 others(1): Show |
4 | 225 | 0.0178 | -13 | c.150 others(32): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51690109 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0022g0007 |
3 | 67 | 0.0448 | -13 | c.723 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 8/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02257.hp2 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0044 | a0001c0004t0005g0176 a0001c0004t0044g0184 |
2 | 82 | 0.0244 | -13 | c.328 others(30): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51726313 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0046others(12): Show | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0013g0060 others(18): Show |
21 | 89 | 0.2360 | -13 | c.214 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 2/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79118390 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG04115.hp2 HG04184.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0001a0001c0025t0001 | a0001c0001t0001g0052 a0001c0001t0001g0080 a0001c0025t0001g0074 |
3 | 105 | 0.0286 | -13 | c.558 others(30): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79260228 | TAGTCACC others(6): Show |
T | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0129 | 1 | 296 | 0.0034 | -13 | c.126 others(32): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0006a0001c0013 | a0001c0006t0002a0001c0013t0002 | a0001c0006t0002g0005 a0001c0006t0002g0186 a0001c0013t0002g0185 |
5 | 235 | 0.0213 | -13 | c.-37 others(20): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | |||||||
ATPSCKMT_chr5_10220507_10254888 | 10249922 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 NA18612.hp2 NA18960.hp1 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0009 | a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0066 others(2): Show |
5 | 356 | 0.0140 | -13 | c.-62 others(20): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 35 | chr5 | TogoVar | |||||||
ATRIP_chr3_48441737_48472645 | 48459079 | ACGTAACA others(6): Show |
A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 | 1 | 358 | 0.0028 | -13 | c.830 others(28): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115177912 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 115 | 0.0087 | -13 | c.134 others(32): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115389593 | TCATCCAA others(6): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 126 | 0.0079 | -13 | c.317 others(32): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | chr10 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115834026 | CACTTCAC others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0014g0001 a0001c0001t0015g0062 a0001c0001t0016g0031 others(3): Show |
6 | 126 | 0.0476 | -13 | c.390 others(34): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3485610 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp2 others(17): Show |
a0001a0002a0007others(1): Show | a0001c0003a0002c0004a0002c0012others(2): Show | a0001c0003t0010a0001c0003t0035a0001c0003t0037others(8): Show | a0001c0003t0010g0206 a0001c0003t0035g0205 a0001c0003t0037g0194 others(17): Show |
20 | 62 | 0.3226 | -13 | c.410 others(32): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3602963 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0129 | 1 | 77 | 0.0130 | -13 | c.364 others(32): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0010a0001c0003t0035 | a0001c0001t0010g0011 a0001c0001t0010g0025 a0001c0001t0010g0145 others(2): Show |
5 | 10 | 0.5000 | -13 | c.386 others(32): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77777191 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 a0001c0001t0008g0005 |
2 | 56 | 0.0357 | -13 | c.20+ others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00621.hp1 others(56): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0035 others(55): Show |
59 | 80 | 0.7375 | -13 | c.589 others(28): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45675964 | ACTTTTTG others(6): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 314 | 0.0032 | -13 | c.116 others(30): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/11 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45751739 | GGAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00621.hp2 others(76): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0015a0002c0003t0001 | a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 others(76): Show |
79 | 281 | 0.2811 | -13 | c.117 others(34): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45751753 | AATAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0082 others(60): Show |
64 | 314 | 0.2038 | -13 | c.117 others(34): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 5 | 0.2000 | -13 | c.117 others(34): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45775299 | TGGACCTC others(6): Show |
T | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 314 | 0.0032 | -13 | c.117 others(34): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16296660 | GTTTTTTT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(41): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0032a0002c0003others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0029others(21): Show | a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 others(41): Show |
44 | 111 | 0.3964 | -13 | c.*96 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2451 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16389337 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0165 | 1 | 166 | 0.0060 | -13 | c.-16 others(34): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16566899 | GGTGGGTC others(6): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(108): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(62): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0103 others(108): Show |
111 | 180 | 0.6167 | -13 | c.-36 others(34): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | GCCCCCCC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01243.hp1 others(32): Show |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0001a0001c0001t0002a0010c0019t0014 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(14): Show |
35 | 145 | 0.2414 | -13 | c.-32 others(22): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28840459 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0004 | 1 | 195 | 0.0051 | -13 | c.*41 others(24): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3228 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01943.hp2 others(35): Show |
a0003a0004a0005others(5): Show | a0003c0004a0003c0005a0003c0006others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(10): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(35): Show |
38 | 61 | 0.6230 | -13 | c.251 others(30): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92091659 | AAGTGACA others(6): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0013 | a0013c0065 | a0013c0065t0005 | a0013c0065t0005g0381 | 1 | 400 | 0.0025 | -13 | c.387 others(30): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92102196 | CAAAGAAA others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03831.hp1 others(4): Show |
a0006a0009a0011others(1): Show | a0006c0051a0006c0052a0009c0037others(2): Show | a0006c0051t0020a0006c0052t0011a0009c0037t0011others(2): Show | a0006c0051t0020g0120 a0006c0052t0011g0116 a0009c0037t0011g0115 others(4): Show |
7 | 400 | 0.0175 | -13 | c.24+ others(28): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0113 | 1 | 77 | 0.0130 | -13 | c.*35 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619522 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0010 | a0007c0010t0027 | a0007c0010t0027g0204 | 1 | 241 | 0.0041 | -13 | c.151 others(30): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619526 | ATATATTT others(6): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0138 | 1 | 234 | 0.0043 | -13 | c.151 others(30): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01169.hp2 HG02055.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0045 a0001c0001t0001g0119 a0001c0001t0002g0026 others(1): Show |
4 | 151 | 0.0265 | -13 | c.151 others(30): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105641214 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 28 | 0.0357 | -13 | c.862 others(30): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144 a0001c0001t0002g0225 |
2 | 21 | 0.0952 | -13 | c.356 others(32): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(99): Show |
102 | 150 | 0.6800 | -13 | c.356 others(32): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63952835 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(50): Show |
a0001a0003a0005others(6): Show | a0001c0001a0003c0004a0003c0005others(10): Show | a0001c0001t0013a0003c0004t0003a0003c0004t0024others(15): Show | a0001c0001t0013g0233 a0003c0004t0003g0160 a0003c0004t0003g0167 others(50): Show |
53 | 118 | 0.4492 | -13 | c.499 others(28): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91249292 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02630.hp1 NA18612.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0267 a0001c0001t0001g0268 |
3 | 88 | 0.0341 | -13 | c.656 others(32): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91363117 | AATGATGT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 356 | 0.0028 | -13 | c.-12 others(24): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 1200 | chr9 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57231133 | CAGGATTG others(6): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(18): Show |
142 | 408 | 0.3480 | -13 | c.-11 others(22): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 1/7 | 103 | chr19 | TogoVar |