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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16723216 | C | CCTT | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001a0003a0005others(3): Show | a0001c0027a0001c0029a0003c0003others(5): Show | a0001c0027t0001a0001c0029t0048a0003c0003t0009others(6): Show | a0001c0027t0001g0024a0001c0029t0048g0031a0003c0003t0009g0055others(7): Show | 10 | 182 | 0.0550 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16731454 | C | CTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(21): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0044a0002c0002t0003others(15): Show | a0001c0001t0001g0123a0001c0001t0001g0178a0001c0001t0044g0118others(21): Show | 24 | 182 | 0.1319 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16752909 | T | TAGC | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02055.hp2 others(18): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(16): Show | a0001c0001t0001g0083a0001c0001t0001g0103a0001c0001t0002g0076others(18): Show | 21 | 182 | 0.1154 | 3 | c.-61 others(20): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16759530 | G | GTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(18): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0002c0004others(12): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0003others(15): Show | a0001c0001t0002g0020a0002c0002t0002g0089a0002c0002t0002g0090others(18): Show | 21 | 182 | 0.1154 | 3 | c.-73 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761484 | T | TCTC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01496.hp1 others(3): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0003a0006c0008others(3): Show | a0001c0001t0030a0003c0003t0001a0006c0008t0046others(3): Show | a0001c0001t0030g0021a0003c0003t0001g0130a0006c0008t0046g0062others(3): Show | 6 | 182 | 0.0330 | 3 | c.-91 others(12): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 25 | chr6 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GTGT | intron_variant | MODIFIER | HG02145.hp2 HG04204.hp2 NA18985.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0027a0002c0002t0001g0067others(2): Show | 5 | 298 | 0.0168 | 3 | c.289 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111465767 | C | CAAA | intron_variant | MODIFIER | HG01361.hp2 HG02071.hp1 HG02132.hp1 others(17): Show |
a0001a0003 | a0001c0003a0001c0012a0003c0005 | a0001c0003t0001a0001c0003t0003a0001c0012t0001others(1): Show | a0001c0003t0001g0125a0001c0003t0001g0126a0001c0003t0001g0127others(17): Show | 20 | 298 | 0.0671 | 3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111467307 | C | CTTT | intron_variant | MODIFIER | HG01168.hp2 HG01361.hp2 HG02071.hp1 others(14): Show |
a0001a0003a0006others(1): Show | a0001c0003a0001c0012a0003c0004others(4): Show | a0001c0003t0001a0001c0012t0001a0003c0004t0003others(4): Show | a0001c0003t0001g0165a0001c0003t0001g0176a0001c0003t0001g0179others(14): Show | 17 | 298 | 0.0571 | 3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111468696 | C | CTTT | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp2 HG01943.hp2 others(39): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0003a0003c0004others(10): Show | a0001c0001t0003a0001c0003t0001a0003c0004t0003others(12): Show | a0001c0001t0003g0009a0001c0003t0001g0124a0001c0003t0001g0131others(39): Show | 42 | 298 | 0.1409 | 3 | c.284 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483410 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(75): Show | 78 | 298 | 0.2617 | 3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAA | intron_variant | MODIFIER | HG02027.hp2 HG02135.hp2 HG02145.hp1 others(10): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0005others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0008t0007others(3): Show | a0001c0003t0001g0125a0001c0003t0001g0136a0001c0003t0001g0141others(10): Show | 13 | 298 | 0.0436 | 3 | c.193 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111495308 | C | CAAA | intron_variant | MODIFIER | HG01928.hp1 HG01952.hp1 HG02132.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0003 | a0001c0003t0001g0129a0002c0002t0001g0016a0002c0002t0001g0047others(5): Show | 8 | 298 | 0.0269 | 3 | c.193 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111535999 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
a0003a0006a0007others(5): Show | a0003c0004a0003c0006a0003c0007others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(11): Show | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(30): Show | 33 | 298 | 0.1107 | 3 | c.572 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111537582 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
a0003a0006a0007others(6): Show | a0003c0004a0003c0006a0003c0007others(9): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(12): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | 298 | 0.1376 | 3 | c.572 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553600 | A | ATTT | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
a0002a0017 | a0002c0002a0017c0024 | a0002c0002t0001a0002c0002t0003a0017c0024t0001 | a0002c0002t0001g0079a0002c0002t0001g0080a0002c0002t0001g0081others(2): Show | 5 | 298 | 0.0168 | 3 | c.348 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111572011 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(74): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0003t0001g0124others(74): Show | 77 | 298 | 0.2584 | 3 | c.252 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111582351 | C | CAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(293): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0008others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0217others(293): Show | 296 | 298 | 0.9933 | 3 | c.251 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111584377 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01169.hp1 others(26): Show |
a0001a0003a0011 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0217a0001c0001t0002g0219a0001c0001t0002g0222others(26): Show | 29 | 298 | 0.0973 | 3 | c.251 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAA | intron_variant | MODIFIER | HG01071.hp2 HG01168.hp1 HG01256.hp2 others(25): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0003others(3): Show | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0224others(25): Show | 28 | 298 | 0.0940 | 3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111591756 | T | TTTG | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0003t0001a0002c0002t0001others(5): Show | a0001c0001t0002g0238a0001c0003t0001g0166a0001c0003t0001g0170others(81): Show | 84 | 298 | 0.2819 | 3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAA | intron_variant | MODIFIER | HG01993.hp2 HG03492.hp1 HG03710.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226a0001c0001t0004g0227a0001c0001t0004g0240others(7): Show | 10 | 298 | 0.0336 | 3 | c.251 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111598993 | C | CTGT | disruptive_inframe_insertion | MODERATE | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(11): Show |
a0003a0006 | a0003c0004a0006c0010 | a0003c0004t0003a0006c0010t0003 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(11): Show | 14 | 298 | 0.0470 | 3 | c.41_ others(8): Show |
p.Gln others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 322/4347 | 41/3468 | 14/1155 | chr12 | TogoVar | ||
ATXN2_chr12_111447214_111604315 | 111600434 | C | CTTT | upstream_gene_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG03471.hp2 others(3): Show |
a0003a0007 | a0003c0004a0003c0007a0007c0015 | a0003c0004t0003a0003c0004t0005a0003c0007t0005others(1): Show | a0003c0004t0003g0106a0003c0004t0003g0107a0003c0004t0003g0108others(3): Show | 6 | 298 | 0.0201 | 3 | c.-14 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1120 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92057412 | A | AAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(141): Show |
a0003a0004a0005others(36): Show | a0003c0003a0004c0026a0005c0006others(38): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(86): Show | a0003c0003t0002g0036a0003c0003t0002g0058a0003c0003t0002g0061others(137): Show | 144 | 402 | 0.3582 | 3 | c.*69 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1139 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92060266 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG03195.hp1 HG03225.hp1 NA19000.hp2 others(1): Show |
a0031a0032a0033others(1): Show | a0031c0033a0032c0034a0033c0036others(1): Show | a0031c0033t0032a0032c0034t0032a0033c0036t0071others(1): Show | a0031c0033t0032g0278a0032c0034t0032g0279a0033c0036t0071g0120others(1): Show | 4 | 402 | 0.0100 | 3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4053 | chr14 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92060268 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01169.hp2 others(10): Show |
a0003a0009a0015others(7): Show | a0003c0003a0009c0009a0015c0014others(7): Show | a0003c0003t0011a0009c0009t0011a0015c0014t0011others(7): Show | a0003c0003t0011g0318a0009c0009t0011g0147a0015c0014t0011g0105others(10): Show | 13 | 402 | 0.0323 | 3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4051 | chr14 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92060270 | A | ATTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01358.hp1 others(5): Show |
a0002a0014a0017others(1): Show | a0002c0007a0014c0015a0017c0019others(1): Show | a0002c0007t0025a0014c0015t0035a0017c0019t0031others(2): Show | a0002c0007t0025g0007a0002c0007t0025g0334a0014c0015t0035g0186others(4): Show | 8 | 402 | 0.0199 | 3 | c.*40 others(14): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4049 | chr14 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92066093 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(112): Show |
a0003a0006a0008others(26): Show | a0003c0003a0006c0005a0006c0051others(28): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(62): Show | a0003c0003t0002g0036a0003c0003t0002g0058a0003c0003t0002g0061others(109): Show | 115 | 402 | 0.2861 | 3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92066097 | A | AAAT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp1 others(22): Show |
a0004a0014a0016others(9): Show | a0004c0026a0014c0015a0016c0025others(9): Show | a0004c0026t0054a0004c0026t0055a0004c0026t0056others(18): Show | a0004c0026t0054g0017a0004c0026t0055g0018a0004c0026t0056g0016others(22): Show | 25 | 402 | 0.0622 | 3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92066774 | A | ATTT | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG06807.hp2 others(3): Show |
a0003a0020a0024others(1): Show | a0003c0003a0020c0021a0024c0028others(1): Show | a0003c0003t0077a0020c0021t0002a0024c0028t0023others(2): Show | a0003c0003t0077g0101a0020c0021t0002g0010a0024c0028t0023g0004others(2): Show | 6 | 402 | 0.0149 | 3 | c.992 others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92095099 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(124): Show |
a0003a0006a0008others(30): Show | a0003c0003a0006c0005a0006c0051others(32): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(70): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(120): Show | 127 | 402 | 0.3159 | 3 | c.234 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | C | CAAA | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01978.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0029a0001c0001t0031others(1): Show | a0001c0001t0018g0094a0001c0001t0029g0072a0001c0001t0029g0215others(2): Show | 5 | 252 | 0.0198 | 3 | c.*35 others(14): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATA | intron_variant | MODIFIER | HG02056.hp2 HG02135.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0006a0001c0001t0064others(2): Show | a0001c0001t0001g0214a0001c0001t0006g0001a0001c0001t0064g0098others(2): Show | 5 | 252 | 0.0198 | 3 | c.151 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105624649 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG02559.hp1 HG03098.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0026a0001c0001t0003g0070a0001c0001t0003g0147others(7): Show | 10 | 252 | 0.0397 | 3 | c.120 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105641212 | C | CTTT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0004g0135a0001c0001t0006g0117a0001c0001t0006g0197others(2): Show | 5 | 252 | 0.0198 | 3 | c.862 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105646770 | C | CAAA | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0004g0135a0001c0001t0004g0137a0001c0001t0004g0211others(14): Show | 17 | 252 | 0.0675 | 3 | c.579 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105648926 | A | ATTT | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0004g0135a0001c0001t0004g0137a0001c0001t0004g0211others(14): Show | 17 | 252 | 0.0675 | 3 | c.579 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105657702 | C | CAAA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02055.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0012others(8): Show | a0001c0001t0005g0206a0001c0001t0007g0217a0001c0001t0007g0218others(10): Show | 13 | 252 | 0.0516 | 3 | c.578 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | G | GATA | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG00741.hp2 others(45): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0205others(45): Show | 48 | 252 | 0.1905 | 3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105704585 | T | TCTC | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013 | a0001c0001t0002g0002a0001c0001t0003g0235a0001c0001t0013g0241others(1): Show | 4 | 252 | 0.0159 | 3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105709877 | C | CTTT | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0004g0203a0001c0001t0007g0202a0001c0001t0018g0058others(2): Show | 5 | 252 | 0.0198 | 3 | c.356 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATA | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00735.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0074others(65): Show | 68 | 252 | 0.2698 | 3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105778510 | C | CAAA | intron_variant | MODIFIER | HG02572.hp1 HG03209.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0009g0013a0001c0001t0010g0095a0001c0001t0011g0170others(3): Show | 6 | 252 | 0.0238 | 3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105778525 | A | AAAC | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02451.hp1 others(19): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0222a0001c0001t0001g0225others(19): Show | 22 | 252 | 0.0873 | 3 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790647 | T | TATC | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0145a0001c0001t0002g0056a0001c0001t0004g0135others(6): Show | 9 | 252 | 0.0357 | 3 | c.251 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105835149 | G | GTTT | intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0145a0001c0001t0001g0214a0001c0001t0006g0197others(6): Show | 9 | 252 | 0.0357 | 3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105845204 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01169.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0201a0001c0001t0002g0239others(21): Show | 24 | 252 | 0.0952 | 3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105864456 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG02145.hp2 HG02602.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(4): Show | a0001c0001t0001g0009a0001c0001t0003g0011a0001c0001t0003g0086others(5): Show | 8 | 252 | 0.0318 | 3 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105871084 | G | GTTT | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01952.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0004g0246a0001c0001t0005g0206a0001c0001t0005g0248others(13): Show | 16 | 252 | 0.0635 | 3 | c.250 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105875627 | A | ACCC | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00642.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0074a0001c0001t0001g0078a0001c0001t0001g0080others(45): Show | 48 | 252 | 0.1905 | 3 | c.250 others(18): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar |