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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1F_chr7_128857856_128870847 | 128862866 | C | T | 5_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0007 | 1 | 442 | 0.0023 | 0 | c.-39 others(3): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1/2 | 39 | chr7 | TogoVar | |||||
ATP6V1H_chr8_53710543_53848245 | 53843205 | G | C | 5_prime_UTR_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0286 | 1 | 286 | 0.0035 | 0 | c.-20 others(4): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1/14 | 1515 | chr8 | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77910763 | C | G | 5_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0019 | 1 | 233 | 0.0043 | 0 | c.-94 others(3): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/23 | 60879 | chrX | TogoVar | |||||
ATP7B_chr13_51927669_52016450 | 52011412 | G | T | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(151): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0025a0002c0002others(19): Show | a0001c0001t0003a0001c0001t0022a0001c0025t0003others(32): Show | a0001c0001t0003g0008a0001c0001t0003g0056a0001c0001t0003g0111others(142): Show | 154 | 302 | 0.5099 | 0 | c.-75 others(3): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/21 | 75 | chr13 | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42656885 | C | A | 5_prime_UTR_variant | MODIFIER | HG01515.hp1 HG02300.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0015a0001c0001t0024others(2): Show | a0001c0001t0011g0002a0001c0001t0011g0004a0001c0001t0011g0005others(7): Show | 10 | 310 | 0.0323 | 0 | c.-12 others(3): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | 12 | chr4 | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42657011 | T | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(135): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(34): Show | a0001c0001t0003g0197a0001c0001t0003g0200a0001c0001t0003g0201others(135): Show | 138 | 310 | 0.4452 | 0 | c.-13 others(4): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | 138 | chr4 | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42657060 | C | CGGTGGCG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0310 | 1 | 310 | 0.0032 | 12 | c.-19 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | 188 | chr4 | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42657070 | G | T | 5_prime_UTR_variant | MODIFIER | HG01515.hp1 HG02300.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0015a0001c0001t0024others(3): Show | a0001c0001t0011g0002a0001c0001t0011g0004a0001c0001t0011g0005others(8): Show | 11 | 310 | 0.0355 | 0 | c.-19 others(4): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | 197 | chr4 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57803078 | G | A | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(158): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0016a0001c0018others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(29): Show | a0001c0001t0002g0200a0001c0001t0002g0201a0001c0001t0002g0202others(158): Show | 161 | 314 | 0.5127 | 0 | c.-10 others(4): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/28 | 71271 | chr18 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57803220 | C | T | 5_prime_UTR_variant | MODIFIER | HG03471.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0001a0001c0001t0021g0002 | 2 | 314 | 0.0064 | 0 | c.-24 others(4): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/28 | 71413 | chr18 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57803261 | G | C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(107): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0016a0001c0018others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0002g0200a0001c0001t0002g0201a0001c0001t0002g0202others(107): Show | 110 | 314 | 0.3503 | 0 | c.-28 others(4): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/28 | 71454 | chr18 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57803305 | G | A | 5_prime_UTR_variant | MODIFIER | HG01934.hp1 HG02055.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026a0001c0001t0027others(4): Show | a0001c0001t0025g0306a0001c0001t0025g0313a0001c0001t0026g0311others(8): Show | 11 | 314 | 0.0350 | 0 | c.-33 others(4): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/28 | 71498 | chr18 | TogoVar | |||||
ATP8B2_chr1_154320525_154356304 | 154325584 | C | CG | 5_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01433.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0027a0001c0002t0030a0001c0003t0031others(2): Show | a0001c0001t0027g0084a0001c0002t0030g0002a0001c0003t0031g0024others(2): Show | 5 | 382 | 0.0131 | 1 | c.-15 others(5): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 1/28 | 2553 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ATP8B3_chr19_1777075_1817276 | 1811855 | T | C | 5_prime_UTR_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0011 | a0001c0011t0018 | a0001c0011t0018g0231 | 1 | 390 | 0.0026 | 0 | c.-11 others(4): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 2/29 | 119 | chr19 | TogoVar | |||||
ATP8B3_chr19_1777075_1817276 | 1812205 | G | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(152): Show |
a0000a0001a0002others(6): Show | a0000c0020a0000c0027a0000c0040others(25): Show | a0000c0020t0008a0000c0027t0008a0000c0040t0008others(33): Show | a0000c0020t0008g0378a0000c0027t0008g0250a0000c0027t0008g0263others(150): Show | 155 | 390 | 0.3974 | 0 | c.-16 others(4): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1/29 | 469 | chr19 | TogoVar | |||||
ATP8B3_chr19_1777075_1817276 | 1812237 | C | A | 5_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01256.hp2 others(4): Show |
a0003 | a0003c0002a0003c0005 | a0003c0002t0013a0003c0005t0010a0003c0005t0013 | a0003c0002t0013g0380a0003c0005t0010g0382a0003c0005t0010g0383others(4): Show | 7 | 390 | 0.0180 | 0 | c.-20 others(4): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1/29 | 501 | chr19 | TogoVar | |||||
ATP8B3_chr19_1777075_1817276 | 1812267 | G | A | 5_prime_UTR_variant | MODIFIER | HG02683.hp1 | a0005 | a0005c0014 | a0005c0014t0022 | a0005c0014t0022g0387 | 1 | 390 | 0.0026 | 0 | c.-23 others(4): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1/29 | 531 | chr19 | TogoVar | |||||
ATP8B4_chr15_49853238_50124233 | 50119159 | A | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(21): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008others(83): Show | 86 | 254 | 0.3386 | 0 | c.-79 others(3): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/28 | 12193 | chr15 | TogoVar | |||||
ATPAF1_chr1_46627737_46673364 | 46668333 | G | GCCT | 5_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 4 | 412 | 0.0097 | 3 | c.-14 others(10): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 1/9 | 12 | chr1 | TogoVar | |||||
ATPAF2_chr17_18013021_18044168 | 18039120 | C | T | 5_prime_UTR_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 328 | 0.0031 | 0 | c.-10 others(4): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 1/8 | 107 | chr17 | TogoVar | |||||
ATPAF2_chr17_18013021_18044168 | 18039160 | C | T | 5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02056.hp1 HG02135.hp1 others(9): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0003a0004c0005t0003 | a0002c0002t0003g0029a0002c0002t0003g0030a0002c0002t0003g0031others(9): Show | 12 | 328 | 0.0366 | 0 | c.-14 others(4): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 1/8 | 147 | chr17 | TogoVar | |||||
ATRAID_chr2_27207041_27222157 | 27212154 | G | A | 5_prime_UTR_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 302 | 0.0033 | 0 | c.-21 others(4): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 1/7 | 215 | chr2 | TogoVar | |||||
ATRAID_chr2_27207041_27222157 | 27212297 | G | A | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003a0002c0002t0003g0008a0002c0002t0003g0013others(2): Show | 24 | 302 | 0.0795 | 0 | c.-72 others(3): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 1/7 | 72 | chr2 | TogoVar | |||||
ATRIP_chr3_48441737_48472645 | 48446745 | C | G | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0009a0001c0004t0008g0033 | 6 | 360 | 0.0167 | 0 | c.-10 others(4): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/13 | 101 | chr3 | TogoVar | |||||
ATRIP_chr3_48441737_48472645 | 48446777 | C | G | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG03225.hp1 |
a0003 | a0003c0006 | a0003c0006t0014 | a0003c0006t0014g0018 | 2 | 360 | 0.0056 | 0 | c.-69 others(3): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/13 | 69 | chr3 | TogoVar | |||||
ATRIP_chr3_48441737_48472645 | 48446788 | G | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00673.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0006a0001c0001t0003g0020others(14): Show | 38 | 360 | 0.1056 | 0 | c.-58 others(3): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/13 | 58 | chr3 | TogoVar | |||||
ATRIP_chr3_48441737_48472645 | 48446815 | C | T | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02895.hp2 others(4): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0007a0003c0006t0022 | a0001c0003t0007g0017a0001c0003t0007g0027a0001c0003t0007g0083others(1): Show | 7 | 360 | 0.0194 | 0 | c.-31 others(3): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 1/13 | 31 | chr3 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115093418 | G | C | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(36): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0077others(54): Show | 57 | 128 | 0.4453 | 0 | c.-33 others(4): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/29 | 333 | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115093560 | T | C | 5_prime_UTR_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0031 | 1 | 128 | 0.0078 | 0 | c.-19 others(4): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/29 | 191 | chr10 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77786015 | C | T | 5_prime_UTR_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02273.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0009a0001c0014t0012 | a0001c0001t0009g0002a0001c0001t0009g0004a0001c0014t0012g0003 | 3 | 218 | 0.0138 | 0 | c.-14 others(3): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/35 | 14 | chrX | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77786155 | A | AC | 5_prime_UTR_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 218 | 0.0046 | 1 | c.-15 others(5): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/35 | 155 | chrX | TogoVar | |||||
ATR_chr3_142444235_142583733 | 142578711 | GCTGCGAG others(30): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02717.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0003a0001c0004t0002g0004 | 2 | 322 | 0.0062 | -37 | c.-44 others(43): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/47 | 8 | chr3 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45671960 | C | T | 5_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0086a0001c0001t0006g0117a0001c0001t0006g0119others(1): Show | 4 | 316 | 0.0127 | 0 | c.-10 others(4): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 104 | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45671990 | C | T | 5_prime_UTR_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0246 | 1 | 316 | 0.0032 | 0 | c.-74 others(3): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 74 | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45672005 | C | T | 5_prime_UTR_variant | MODIFIER | HG03098.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0300a0001c0001t0008g0302 | 2 | 316 | 0.0063 | 0 | c.-59 others(3): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 59 | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45672016 | C | T | 5_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0301 | 1 | 316 | 0.0032 | 0 | c.-48 others(3): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/12 | 48 | chr22 | TogoVar | |||||
ATXN1L_chr16_71840976_71862328 | 71848016 | G | A | 5_prime_UTR_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 1 | 418 | 0.0024 | 0 | c.-17 others(4): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 2/3 | 1725 | chr16 | TogoVar | |||||
ATXN1L_chr16_71840976_71862328 | 71849700 | A | C | 5_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0005a0001c0001t0019g0009 | 2 | 418 | 0.0048 | 0 | c.-41 others(3): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 3/3 | 41 | chr16 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16328450 | C | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01258.hp2 HG02300.hp2 |
a0003 | a0003c0003 | a0003c0003t0013a0003c0003t0022 | a0003c0003t0013g0027a0003c0003t0013g0033a0003c0003t0022g0119 | 3 | 182 | 0.0165 | 0 | c.-14 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 140 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16657827 | T | C | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02622.hp2 others(8): Show |
a0001a0006a0007others(5): Show | a0001c0001a0001c0029a0001c0052others(8): Show | a0001c0001t0011a0001c0029t0048a0001c0052t0047others(8): Show | a0001c0001t0011g0131a0001c0029t0048g0031a0001c0052t0047g0060others(8): Show | 11 | 182 | 0.0604 | 0 | c.-54 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/8 | 329517 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761371 | C | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-80 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433061 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761376 | G | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-80 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433066 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761382 | G | C | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-81 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433072 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761386 | C | T | 5_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0003 | 1 | 182 | 0.0055 | 0 | c.-81 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433076 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761416 | T | C | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-84 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433106 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761429 | G | A | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-86 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433119 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761444 | G | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-87 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433134 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761452 | A | G | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 1 | 182 | 0.0055 | 0 | c.-88 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433142 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16761458 | A | T | 5_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 0 | c.-89 others(4): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/8 | 433148 | chr6 | TogoVar | |||||
ATXN2L_chr16_28817999_28842232 | 28823017 | C | T | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 382 | 0.0026 | 0 | c.-24 others(4): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1/22 | 243 | chr16 | TogoVar |