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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CACACATA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 72 | 0.0139 | 26 | c.50- others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0087 a0001c0001t0002g0054 a0001c0001t0004g0073 |
3 | 74 | 0.0405 | 26 | c.50- others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0001g0070 a0001c0001t0005g0265 a0001c0001t0011g0004 others(1): Show |
4 | 75 | 0.0533 | 26 | c.50- others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02615.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0004others(1): Show | a0001c0001t0002g0014 a0001c0001t0006g0300 a0001c0002t0004g0024 others(1): Show |
4 | 208 | 0.0192 | 26 | c.50- others(41): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0052a0001c0003t0062 | a0001c0003t0052g0113 a0001c0003t0062g0024 |
2 | 37 | 0.0541 | 26 | c.77- others(41): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0044 | a0001c0005t0044g0018 | 1 | 36 | 0.0278 | 26 | c.77- others(41): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0006 | 1 | 33 | 0.0303 | 26 | c.222 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609534 | G | GGGATTCA others(19): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02976.hp2 |
a0001 | a0001c0009a0001c0011a0001c0018 | a0001c0009t0037a0001c0011t0017a0001c0018t0024 | a0001c0009t0037g0008 a0001c0011t0017g0121 a0001c0018t0024g0066 |
3 | 99 | 0.0303 | 26 | c.221 others(47): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0081 | 1 | 22 | 0.0455 | 26 | c.318 others(47): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25892478 | G | GTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02257.hp2 HG03130.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0026a0001c0001t0053a0001c0001t0072others(5): Show | a0001c0001t0026g0089 a0001c0001t0053g0114 a0001c0001t0072g0027 others(5): Show |
8 | 62 | 0.1290 | 26 | c.318 others(47): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0002t0001others(9): Show | a0001c0001t0002g0079 a0001c0001t0011g0062 a0001c0002t0001g0035 others(9): Show |
12 | 28 | 0.4286 | 26 | c.318 others(47): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0034 | a0001c0001t0002g0295 a0004c0004t0034g0088 |
2 | 12 | 0.1667 | 26 | c.353 others(43): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01433.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0003g0258 others(9): Show |
12 | 25 | 0.4800 | 26 | c.163 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(19): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0223 | 1 | 194 | 0.0052 | 26 | c.182 others(43): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756192 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02451.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0002g0276 a0001c0001t0008g0101 a0001c0001t0010g0157 others(1): Show |
4 | 145 | 0.0276 | 26 | c.-25 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756305 | A | ATATACAT others(19): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0003 a0001c0001t0010g0157 |
2 | 138 | 0.0145 | 26 | c.-25 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0003 | a0003c0003t0018 | a0003c0003t0018g0282 | 1 | 69 | 0.0145 | 26 | c.-25 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57787400 | G | GCACTGCG others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0004 | a0001c0001t0001g0003 a0004c0009t0004g0004 |
2 | 275 | 0.0073 | 26 | c.-26 others(45): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51642726 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 NA18943.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0207 a0001c0004t0005g0292 |
2 | 223 | 0.0090 | 26 | c.150 others(45): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0007 | a0001c0001t0013g0136 a0001c0002t0007g0163 |
2 | 82 | 0.0244 | 26 | c.328 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79245551 | G | GGAGGGCA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(103): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(30): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0003t0001g0136 others(102): Show |
106 | 296 | 0.3581 | 26 | c.110 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256257 | C | CCATATAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18522.hp1 NA18955.hp2 |
a0001a0003 | a0001c0004a0001c0006a0003c0007 | a0001c0004t0003a0001c0006t0003a0003c0007t0004 | a0001c0004t0003g0056 a0001c0006t0003g0268 a0003c0007t0004g0284 |
3 | 98 | 0.0306 | 26 | c.126 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79256257 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18982.hp2 NA18984.hp1 |
a0001a0002 | a0001c0004a0002c0002a0002c0018 | a0001c0004t0003a0002c0002t0014a0002c0018t0002 | a0001c0004t0003g0119 a0002c0002t0014g0175 a0002c0018t0002g0114 |
3 | 98 | 0.0306 | 26 | c.126 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256286 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02735.hp2 NA20752.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0274 a0004c0008t0001g0275 |
2 | 259 | 0.0077 | 26 | c.126 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256286 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 258 | 0.0039 | 26 | c.126 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256286 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0011a0001c0014 | a0001c0011t0006a0001c0014t0006 | a0001c0011t0006g0107 a0001c0014t0006g0017 a0001c0014t0006g0097 |
3 | 260 | 0.0115 | 26 | c.126 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18019147 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0192 a0001c0001t0001g0234 |
3 | 28 | 0.1071 | 26 | c.733 others(41): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
ATRNL1_chr10_115088365_115953999 | 115223929 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 52 | 0.0192 | 26 | c.153 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0041 | a0001c0003t0041g0045 | 1 | 85 | 0.0118 | 26 | c.332 others(47): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18995.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0054 a0001c0002t0004g0056 |
2 | 86 | 0.0233 | 26 | c.332 others(47): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 7 | 0.1429 | 26 | c.401 others(45): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115906926 | T | TGAATATC others(19): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01109.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(31): Show | a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0003g0059 others(36): Show |
39 | 126 | 0.3095 | 26 | c.401 others(47): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | chr10 | TogoVar | |||||||
ATRN_chr20_3466018_3656118 | 3512107 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0008 | a0003c0008t0029 | a0003c0008t0029g0196 | 1 | 107 | 0.0093 | 26 | c.411 others(45): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3512107 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0199 | 1 | 107 | 0.0093 | 26 | c.411 others(45): 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(19): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02886.hp2 NA18952.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(6): Show |
9 | 60 | 0.1500 | 26 | c.346 others(43): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0002g0138 |
2 | 18 | 0.1111 | 26 | c.455 others(43): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0001 | a0001c0001t0007g0067 a0002c0002t0001g0011 |
2 | 86 | 0.0233 | 26 | c.-49 others(37): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142516983 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0314 a0001c0004t0001g0316 |
2 | 317 | 0.0063 | 26 | c.438 others(45): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528854 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0015 | 1 | 299 | 0.0033 | 26 | c.394 others(45): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0163 | 1 | 99 | 0.0101 | 26 | c.394 others(45): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0116 |
3 | 114 | 0.0263 | 26 | c.335 others(45): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440648 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00735.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0012others(6): Show | a0001c0001t0002a0001c0008t0002a0001c0012t0006others(7): Show | a0001c0001t0002g0129 a0001c0008t0002g0013 a0001c0012t0006g0008 others(9): Show |
12 | 121 | 0.0992 | 26 | c.-16 others(47): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440648 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0072 | 1 | 110 | 0.0091 | 26 | c.-16 others(47): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0096 | 1 | 109 | 0.0092 | 26 | c.-36 others(45): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0031 | a0002c0031t0010 | a0002c0031t0010g0173 | 1 | 109 | 0.0092 | 26 | c.-36 others(45): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16606867 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(25): Show | a0001c0001t0001g0043 a0001c0001t0001g0181 a0001c0001t0002g0020 others(35): Show |
38 | 79 | 0.4810 | 26 | c.-48 others(47): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0008a0001c0032a0002c0003others(6): Show | a0001c0008t0047a0001c0032t0018a0002c0003t0013others(6): Show | a0001c0008t0047g0060 a0001c0032t0018g0059 a0002c0003t0013g0033 others(6): Show |
9 | 53 | 0.1698 | 26 | c.-61 others(47): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19004.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 a0002c0002t0001g0102 |
2 | 25 | 0.0800 | 26 | c.251 others(43): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731754 | A | AAAAGAAA others(19): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 250 | 0.0040 | 26 | c.355 others(45): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02135.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0223 others(4): Show |
7 | 97 | 0.0722 | 26 | c.355 others(45): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar |