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 | 57713240 | C | CTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0190 | 1 | 194 | 0.0052 | 32 | c.182 others(49): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(25): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 194 | 0.0052 | 32 | c.182 others(49): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756192 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0169 | 1 | 142 | 0.0070 | 32 | c.-25 others(51): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086396 | T | TTTATTAT others(25): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03704.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0239 a0002c0002t0001g0152 |
2 | 240 | 0.0083 | 32 | c.29- others(49): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0016others(1): Show | a0001c0002t0002g0005 a0001c0002t0004g0146 a0001c0002t0004g0201 others(5): Show |
8 | 63 | 0.1270 | 32 | c.166 others(51): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0077others(2): Show | a0001c0001t0002g0222 a0001c0001t0008g0083 a0001c0001t0077g0002 others(3): Show |
6 | 61 | 0.0984 | 32 | c.166 others(51): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0233 others(1): Show |
4 | 59 | 0.0678 | 32 | c.166 others(51): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0138 | 1 | 81 | 0.0123 | 32 | c.328 others(49): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 2 | 0.5000 | 32 | c.119 others(49): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256257 | C | CCATATAT others(25): Show |
intron_variant | MODIFIER | HG01952.hp1 HG03834.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0060 a0001c0004t0003g0073 |
2 | 97 | 0.0206 | 32 | c.126 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79256286 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0036 | a0004c0036t0001 | a0004c0036t0001g0271 | 1 | 258 | 0.0039 | 32 | c.126 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79347968 | A | AGGAAGGG others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show |
6 | 296 | 0.0203 | 32 | c.283 others(47): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357102 | C | CCTGTGTG others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 others(70): Show |
73 | 296 | 0.2466 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357118 | T | TCTGGGTC others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show |
6 | 219 | 0.0274 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357118 | T | TCTGGGTC others(25): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 214 | 0.0047 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357136 | T | TGTGTGAG others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0011a0012 | a0011c0030a0012c0023 | a0011c0030t0001a0012c0023t0001 | a0011c0030t0001g0253 a0012c0023t0001g0042 |
2 | 216 | 0.0093 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357136 | T | TGTGTGAG others(25): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18960.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 |
3 | 217 | 0.0138 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357375 | G | GAGGGGTG others(25): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 296 | 0.0034 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357382 | C | CCTGTGTG others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0011a0012 | a0011c0030a0012c0023 | a0011c0030t0001a0012c0023t0001 | a0011c0030t0001g0253 a0012c0023t0001g0042 |
2 | 220 | 0.0091 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357382 | C | CCTGTGTG others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0188 | 1 | 219 | 0.0046 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357774 | T | TGTGTGAG others(25): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02155.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0005a0005c0016 | a0001c0001t0001a0002c0005t0001a0005c0016t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(4): Show |
7 | 289 | 0.0242 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357958 | T | TCTGGGTC others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 255 | 0.0039 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357958 | T | TCTGGGTC others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02155.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001a0002c0005t0004 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(7): Show |
10 | 264 | 0.0379 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358160 | T | TCTGGGTC others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 294 | 0.0034 | 32 | c.290 others(51): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358378 | C | CCTGTGTG others(25): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 290 | 0.0034 | 32 | c.290 others(49): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358568 | T | TGTGTGAG others(25): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 211 | 0.0047 | 32 | c.290 others(49): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115170557 | G | GCAGTACA others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(5): Show |
8 | 126 | 0.0635 | 32 | c.109 others(49): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115270253 | T | TATTTGTT others(25): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0032 | 1 | 124 | 0.0081 | 32 | c.210 others(51): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115374453 | T | TTTCCTTC others(25): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033 | 1 | 45 | 0.0222 | 32 | c.317 others(53): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 80 | 0.0125 | 32 | c.379 others(53): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115871467 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 125 | 0.0080 | 32 | c.401 others(53): 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(25): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0103 | 1 | 16 | 0.0625 | 32 | c.401 others(53): 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(25): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0012 | a0002c0012t0019 | a0002c0012t0019g0158 | 1 | 107 | 0.0093 | 32 | c.411 others(51): 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(25): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0013 | a0001c0013t0026 | a0001c0013t0026g0169 | 1 | 52 | 0.0192 | 32 | c.346 others(49): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77556211 | A | AAGGGAGA others(25): Show |
intron_variant | MODIFIER | HG02965.hp1 NA21309.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0181 a0001c0001t0003g0086 a0001c0001t0003g0161 |
3 | 90 | 0.0333 | 32 | c.669 others(51): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0172 a0001c0001t0004g0114 |
2 | 18 | 0.1111 | 32 | c.455 others(49): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(25): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01975.hp2 HG02015.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0004g0186 a0001c0001t0004g0188 a0001c0001t0004g0189 others(5): Show |
8 | 92 | 0.0870 | 32 | c.-49 others(43): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16606867 | T | TTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02004.hp2 HG02135.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(9): Show | a0001c0001t0001a0001c0008t0047a0001c0010t0004others(10): Show | a0001c0001t0001g0037 a0001c0008t0047g0060 a0001c0010t0004g0161 others(12): Show |
15 | 56 | 0.2679 | 32 | c.-48 others(53): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692411 | T | TTCCTTCC others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0182 | 1 | 246 | 0.0041 | 32 | c.356 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0252 | 1 | 132 | 0.0076 | 32 | c.356 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(25): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0003 a0001c0001t0004g0211 a0001c0001t0008g0058 others(3): Show |
6 | 137 | 0.0438 | 32 | c.356 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692424 | T | TCCTTCCC others(25): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp2 HG02165.hp2 others(11): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0238 a0001c0001t0003g0172 others(11): Show |
14 | 145 | 0.0966 | 32 | c.356 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 others(33): Show |
36 | 87 | 0.4138 | 32 | c.355 others(51): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0012 | a0012c0017 | a0012c0017t0017 | a0012c0017t0017g0018 | 1 | 66 | 0.0152 | 32 | c.499 others(47): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AURKA_chr20_56364390_56397215 | 56365578 | T | TGTTTTCG others(25): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 382 | 0.0026 | 32 | c.*45 others(43): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 3811 | chr20 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 213 | 0.0047 | 32 | c.-41 others(43): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01361.hp1 HG02056.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(4): Show |
12 | 224 | 0.0536 | 32 | c.-41 others(43): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01069.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(2): Show |
10 | 222 | 0.0450 | 32 | c.-41 others(43): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 213 | 0.0047 | 32 | c.-41 others(43): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01258.hp1 HG01516.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0003t0001g0006 a0001c0003t0001g0031 others(1): Show |
5 | 217 | 0.0230 | 32 | c.-41 others(43): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar |