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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8B1_chr18_57641426_57808315 | 57692425 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0004 | 1 | 314 | 0.0032 | -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 | 314 | 0.0032 | -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 | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(82): Show | 85 | 314 | 0.2707 | -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 | a0001c0001t0001g0063 | 1 | 382 | 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 | a0001c0001t0031g0241a0003c0003t0004g0016a0003c0003t0004g0020others(4): Show | 7 | 254 | 0.0276 | -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 | a0001c0001t0003g0235a0001c0001t0003g0236a0001c0001t0003g0237 | 3 | 254 | 0.0118 | -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 | a0001c0001t0001g0111a0001c0001t0003g0236a0001c0001t0003g0237others(5): Show | 8 | 254 | 0.0315 | -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(126): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0031others(126): Show | 129 | 312 | 0.4135 | -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 | a0001c0002t0052a0001c0002t0053a0001c0003t0007 | a0001c0002t0052g0091a0001c0002t0053g0090a0001c0003t0007g0221others(1): Show | 4 | 312 | 0.0128 | -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 | a0001c0001t0009a0001c0001t0024 | a0001c0001t0009g0004a0001c0001t0009g0009a0001c0001t0024g0007 | 3 | 312 | 0.0096 | -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 | a0001c0004t0004a0001c0004t0047 | a0001c0004t0004g0174a0001c0004t0047g0181 | 2 | 312 | 0.0064 | -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 | a0001c0001t0003a0001c0001t0013a0001c0001t0049others(12): Show | a0001c0001t0003g0124a0001c0001t0003g0125a0001c0001t0013g0060others(18): Show | 21 | 312 | 0.0673 | -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 | a0001c0001t0001g0052a0001c0001t0001g0080a0001c0025t0001g0074 | 3 | 298 | 0.0101 | -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 | a0001c0003t0003g0127 | 1 | 298 | 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 | a0001c0006t0002g0005a0001c0006t0002g0186a0001c0013t0002g0185 | 5 | 358 | 0.0140 | -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 | a0002c0001t0001g0001a0002c0001t0001g0002a0002c0001t0001g0067others(2): Show | 5 | 358 | 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 | 360 | 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 | a0001c0002t0001g0045 | 1 | 128 | 0.0078 | -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 | 128 | 0.0078 | -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 | a0001c0001t0014g0001a0001c0001t0015g0064a0001c0001t0016g0031others(3): Show | 6 | 128 | 0.0469 | -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 |
a0001a0002a0005others(1): Show | a0001c0003a0002c0004a0002c0012others(2): Show | a0001c0003t0010a0001c0003t0035a0001c0003t0037others(8): Show | a0001c0003t0010g0206a0001c0003t0035g0205a0001c0003t0037g0194others(17): Show | 20 | 220 | 0.0909 | -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 | 220 | 0.0046 | -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 | a0001c0001t0010g0011a0001c0001t0010g0025a0001c0001t0010g0145others(2): Show | 5 | 220 | 0.0227 | -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 | a0001c0001t0008g0005a0001c0001t0008g0006 | 2 | 218 | 0.0092 | -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 | a0001c0001t0001g0005a0001c0001t0001g0033a0001c0001t0001g0034others(56): Show | 59 | 322 | 0.1832 | -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 | a0001c0001t0001g0208 | 1 | 316 | 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(77): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0015a0002c0003t0001 | a0001c0001t0001g0141a0001c0001t0001g0143a0001c0001t0001g0144others(77): Show | 80 | 316 | 0.2532 | -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 | a0001c0001t0001g0068a0001c0001t0001g0081a0001c0001t0001g0138others(61): Show | 64 | 316 | 0.2025 | -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 | a0001c0001t0001g0077 | 1 | 316 | 0.0032 | -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 | a0001c0001t0001g0002 | 1 | 316 | 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(10): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0029others(24): Show | a0001c0001t0002g0020a0001c0001t0002g0076a0001c0001t0002g0077others(41): Show | 44 | 182 | 0.2418 | -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 | a0009 | a0009c0025 | a0009c0025t0033 | a0009c0025t0033g0165 | 1 | 182 | 0.0055 | -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(25): Show | a0001c0001a0001c0027a0001c0028others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(67): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0103others(108): Show | 111 | 182 | 0.6099 | -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 |
a0000a0001 | a0000c0019a0001c0001 | a0000c0019t0010a0001c0001t0001a0001c0001t0002 | a0000c0019t0010g0059a0001c0001t0001g0001a0001c0001t0001g0002others(14): Show | 35 | 382 | 0.0916 | -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 | 382 | 0.0026 | -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 |
a0003a0006a0007others(5): Show | a0003c0004a0003c0006a0003c0007others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(11): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(35): Show | 38 | 298 | 0.1275 | -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 | a0011 | a0011c0065 | a0011c0065t0116 | a0011c0065t0116g0388 | 1 | 402 | 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 |
a0006a0019a0028others(2): Show | a0006c0051a0019c0022a0028c0037others(2): Show | a0006c0051t0073a0019c0022t0014a0028c0037t0014others(2): Show | a0006c0051t0073g0116a0019c0022t0014g0113a0019c0022t0014g0115others(4): Show | 7 | 402 | 0.0174 | -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 | a0001c0001t0017 | a0001c0001t0017g0113 | 1 | 252 | 0.0040 | -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 | a0006 | a0006c0010 | a0006c0010t0031 | a0006c0010t0031g0204 | 1 | 252 | 0.0040 | -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 | a0001c0001t0046 | a0001c0001t0046g0138 | 1 | 252 | 0.0040 | -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 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0026a0001c0001t0003g0118a0001c0001t0008g0045others(1): Show | 4 | 252 | 0.0159 | -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 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 252 | 0.0040 | -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 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0225a0001c0001t0007g0144 | 2 | 252 | 0.0079 | -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(41): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0078others(99): Show | 102 | 252 | 0.4048 | -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(8): Show | a0001c0001a0003c0004a0005c0005others(10): Show | a0001c0001t0016a0003c0004t0003a0003c0004t0022others(16): Show | a0001c0001t0016g0233a0003c0004t0003g0158a0003c0004t0003g0168others(50): Show | 53 | 300 | 0.1767 | -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 | a0001c0001t0001g0092a0001c0001t0001g0232a0001c0001t0001g0233 | 3 | 358 | 0.0084 | -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 | a0001c0001t0001g0310 | 1 | 358 | 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(140): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(19): Show | 143 | 410 | 0.3488 | -13 | c.-11 others(22): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 1/7 | 103 | chr19 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69762293 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0071a0001c0001t0003g0068a0001c0001t0005g0005others(19): Show | 22 | 76 | 0.2895 | -13 | c.310 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |