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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN2L_chr16_28817999_28842232 | 28840459 | CTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(87): Show |
a0000a0001a0011 | a0000c0019a0001c0001a0001c0004others(3): Show | a0000c0019t0010a0001c0001t0001a0001c0001t0003others(7): Show | a0000c0019t0010g0059a0001c0001t0001g0001a0001c0001t0001g0006others(28): Show | 90 | 382 | 0.2356 | -2 | c.*41 others(13): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3228 | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464247 | GGT | G | intron_variant | MODIFIER | HG01167.hp1 HG02486.hp2 NA18942.hp1 |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0013 | a0001c0003t0001a0003c0004t0003a0004c0013t0001 | a0001c0003t0001g0143a0003c0004t0003g0110a0004c0013t0001g0199 | 3 | 298 | 0.0101 | -2 | c.289 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464335 | TTG | T | intron_variant | MODIFIER | HG00544.hp2 HG01167.hp1 HG01884.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0001t0002g0281a0001c0003t0001g0143a0001c0003t0003g0140others(11): Show | 14 | 298 | 0.0470 | -2 | c.289 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111465767 | CAA | C | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02630.hp1 others(8): Show |
a0003a0006a0008others(3): Show | a0003c0004a0003c0006a0003c0007others(6): Show | a0003c0004t0008a0003c0006t0003a0003c0007t0003others(7): Show | a0003c0004t0008g0215a0003c0006t0003g0213a0003c0007t0003g0114others(8): Show | 11 | 298 | 0.0369 | -2 | c.284 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111467307 | CTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0005others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(35): Show | 38 | 298 | 0.1275 | -2 | c.284 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111478772 | TGG | T | intron_variant | MODIFIER | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(24): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0224others(24): Show | 27 | 298 | 0.0906 | -2 | c.252 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111479390 | TAA | T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
a0003a0006a0008others(4): Show | a0003c0004a0003c0006a0003c0007others(7): Show | a0003c0004t0003a0003c0006t0003a0003c0007t0003others(8): Show | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0096others(23): Show | 26 | 298 | 0.0873 | -2 | c.252 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111482190 | ATT | A | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0002a0001c0003t0001a0002c0002t0001others(8): Show | a0001c0001t0002g0238a0001c0003t0001g0129a0001c0003t0001g0130others(80): Show | 83 | 298 | 0.2785 | -2 | c.252 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483192 | CAT | C | intron_variant | MODIFIER | HG00597.hp1 HG01169.hp2 HG02055.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0012a0002c0002others(5): Show | a0001c0003t0001a0001c0012t0001a0002c0002t0001others(6): Show | a0001c0003t0001g0124a0001c0003t0001g0125a0001c0003t0001g0126others(30): Show | 33 | 298 | 0.1107 | -2 | c.252 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483194 | TAC | T | intron_variant | MODIFIER | HG01081.hp2 HG01975.hp2 HG02735.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0218a0001c0001t0002g0219a0001c0001t0002g0287others(6): Show | 9 | 298 | 0.0302 | -2 | c.252 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111508288 | CAG | C | intron_variant | MODIFIER | HG02622.hp2 HG02897.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0002g0282others(1): Show | 4 | 298 | 0.0134 | -2 | c.193 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111512451 | CTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(56): Show |
a0002a0009 | a0002c0002a0002c0016a0009c0017 | a0002c0002t0001a0002c0002t0003a0002c0016t0001others(1): Show | a0002c0002t0001g0006a0002c0002t0001g0011a0002c0002t0001g0012others(56): Show | 59 | 298 | 0.1980 | -2 | c.155 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111529353 | TAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | 298 | 0.2953 | -2 | c.572 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111541346 | CTT | C | intron_variant | MODIFIER | HG01169.hp1 HG02486.hp1 HG02735.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0222a0001c0001t0002g0275a0001c0001t0002g0285others(4): Show | 7 | 298 | 0.0235 | -2 | c.571 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111548443 | CAG | C | intron_variant | MODIFIER | HG01943.hp2 HG02717.hp1 HG02965.hp2 others(2): Show |
a0003a0006a0018others(1): Show | a0003c0007a0006c0010a0018c0028others(1): Show | a0003c0007t0003a0003c0007t0005a0006c0010t0003others(2): Show | a0003c0007t0003g0114a0003c0007t0005g0116a0006c0010t0003g0113others(2): Show | 5 | 298 | 0.0168 | -2 | c.571 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111562720 | CAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137a0001c0003t0001g0142a0001c0003t0001g0169others(6): Show | 9 | 298 | 0.0302 | -2 | c.252 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111564485 | GAA | G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(26): Show |
a0003a0006a0007others(6): Show | a0003c0004a0003c0006a0003c0007others(9): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(12): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(26): Show | 29 | 298 | 0.0973 | -2 | c.252 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111581135 | CAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
a0003a0006a0007others(6): Show | a0003c0004a0003c0006a0003c0007others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(11): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(37): Show | 40 | 298 | 0.1342 | -2 | c.251 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111582993 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(190): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0002c0002others(18): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0002g0219others(190): Show | 193 | 298 | 0.6477 | -2 | c.251 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111586239 | CAG | C | intron_variant | MODIFIER | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009 | 3 | 298 | 0.0101 | -2 | c.251 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111588991 | CAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG01258.hp1 others(16): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0005others(1): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0001others(2): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(16): Show | 19 | 298 | 0.0638 | -2 | c.251 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111596205 | AAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01071.hp2 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0219a0001c0001t0002g0241a0001c0001t0002g0242others(71): Show | 74 | 298 | 0.2483 | -2 | c.251 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111603059 | CAA | C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01928.hp1 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(4): Show | 7 | 298 | 0.0235 | -2 | c.-40 others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3745 | chr12 | TogoVar | ||||||
ATXN3L_chrX_13313647_13325053 | 13315335 | CTG | C | downstream_gene_variant | MODIFIER | NA18954.hp2 NA18955.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 317 | 0.0158 | -2 | c.*35 others(13): Show |
ATXN3L | ENSG00000123594.7 | transcript | ENST00000380622.5 | protein_coding | 3311 | chrX | TogoVar | ||||||
ATXN3L_chrX_13313647_13325053 | 13318726 | ATC | A | 3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 317 | 0.0032 | -2 | c.*13 others(11): Show |
ATXN3L | ENSG00000123594.7 | transcript | ENST00000380622.5 | protein_coding | 1/1 | 139 | chrX | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92057628 | TTA | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG02040.hp1 HG02165.hp1 others(23): Show |
a0004a0016 | a0004c0004a0016c0042 | a0004c0004t0005a0004c0004t0022a0004c0004t0117others(2): Show | a0004c0004t0005g0089a0004c0004t0005g0093a0004c0004t0005g0094others(22): Show | 26 | 402 | 0.0647 | -2 | c.*66 others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 923 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92060249 | CAT | C | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG03491.hp1 others(2): Show |
a0001a0007a0022 | a0001c0001a0007c0017a0022c0020 | a0001c0001t0038a0001c0001t0104a0007c0017t0110others(1): Show | a0001c0001t0038g0258a0001c0001t0038g0260a0001c0001t0104g0391others(2): Show | 5 | 402 | 0.0124 | -2 | c.*40 others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4069 | chr14 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92066110 | TTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(137): Show |
a0003a0004a0006others(35): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(83): Show | a0003c0003t0002g0036a0003c0003t0002g0058a0003c0003t0002g0061others(134): Show | 140 | 402 | 0.3483 | -2 | c.992 others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92068612 | CAG | C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(5): Show |
a0004a0016 | a0004c0026a0016c0025 | a0004c0026t0054a0004c0026t0055a0004c0026t0056others(5): Show | a0004c0026t0054g0017a0004c0026t0055g0018a0004c0026t0056g0016others(5): Show | 8 | 402 | 0.0199 | -2 | c.991 others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92074012 | CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02559.hp1 others(4): Show |
a0004a0016a0044 | a0004c0026a0016c0025a0044c0047 | a0004c0026t0054a0004c0026t0055a0004c0026t0056others(4): Show | a0004c0026t0054g0017a0004c0026t0055g0018a0004c0026t0056g0016others(4): Show | 7 | 402 | 0.0174 | -2 | c.873 others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92075156 | GTT | G | intron_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG02040.hp1 others(26): Show |
a0004a0007a0010others(4): Show | a0004c0004a0007c0010a0010c0011others(4): Show | a0004c0004t0005a0004c0004t0022a0004c0004t0117others(8): Show | a0004c0004t0005g0089a0004c0004t0005g0093a0004c0004t0005g0094others(25): Show | 29 | 402 | 0.0721 | -2 | c.873 others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92078062 | CCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(150): Show |
a0003a0004a0006others(35): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(88): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(146): Show | 153 | 402 | 0.3806 | -2 | c.872 others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92089039 | AAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02723.hp2 others(1): Show |
a0016 | a0016c0025 | a0016c0025t0080a0016c0025t0081a0016c0025t0082others(1): Show | a0016c0025t0080g0107a0016c0025t0081g0110a0016c0025t0082g0108others(1): Show | 4 | 402 | 0.0100 | -2 | c.388 others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92089332 | CTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01192.hp1 others(28): Show |
a0004a0007a0010others(7): Show | a0004c0026a0007c0010a0010c0011others(8): Show | a0004c0026t0054a0004c0026t0055a0004c0026t0057others(21): Show | a0004c0026t0054g0017a0004c0026t0055g0018a0004c0026t0057g0386others(28): Show | 31 | 402 | 0.0771 | -2 | c.388 others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92092107 | CCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(136): Show |
a0003a0006a0008others(30): Show | a0003c0003a0006c0005a0006c0051others(32): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(76): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(132): Show | 139 | 402 | 0.3458 | -2 | c.387 others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92093944 | GTT | G | intron_variant | MODIFIER | HG02080.hp2 NA18964.hp2 NA19060.hp1 others(4): Show |
a0003a0009a0021others(1): Show | a0003c0003a0009c0009a0021c0023others(1): Show | a0003c0003t0002a0003c0003t0077a0009c0009t0002others(3): Show | a0003c0003t0002g0058a0003c0003t0077g0101a0009c0009t0002g0009others(4): Show | 7 | 402 | 0.0174 | -2 | c.235 others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92097106 | ATC | A | intron_variant | MODIFIER | HG03209.hp1 HG03579.hp2 NA18522.hp2 |
a0005a0012a0024 | a0005c0006a0012c0016a0024c0028 | a0005c0006t0028a0012c0016t0030a0024c0028t0048 | a0005c0006t0028g0194a0012c0016t0030g0379a0024c0028t0048g0380 | 3 | 402 | 0.0075 | -2 | c.25- others(15): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92103110 | TAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(60): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0007a0003c0003others(11): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0111others(24): Show | a0002c0002t0003g0008a0002c0002t0003g0351a0002c0002t0003g0352others(58): Show | 63 | 402 | 0.1567 | -2 | c.24+ others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92104922 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(93): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0007a0003c0003others(20): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0111others(41): Show | a0002c0002t0003g0008a0002c0002t0003g0351a0002c0002t0003g0352others(90): Show | 96 | 402 | 0.2388 | -2 | c.24+ others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105602399 | CTT | C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02735.hp2 HG06807.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0003 | a0001c0001t0001g0003a0001c0001t0001g0102a0001c0001t0001g0119others(2): Show | 5 | 252 | 0.0198 | -2 | c.*54 others(13): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2372 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | CAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00642.hp2 others(44): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0044others(44): Show | 47 | 252 | 0.1865 | -2 | c.*35 others(13): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105604389 | CAA | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01074.hp2 others(36): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(19): Show | a0001c0001t0004g0203a0001c0001t0004g0219a0001c0001t0008g0075others(36): Show | 39 | 252 | 0.1548 | -2 | c.*34 others(13): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 382 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105605042 | CTT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01516.hp1 HG01934.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0025a0001c0001t0040others(2): Show | a0001c0001t0005g0014a0001c0001t0005g0025a0001c0001t0005g0027others(10): Show | 13 | 252 | 0.0516 | -2 | c.*28 others(13): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2808 | chr7 | TogoVar | |||||
ATXN7L1_chr7_105599772_105881599 | 105605475 | TGG | T | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00738.hp2 others(41): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0023others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(41): Show | 44 | 252 | 0.1746 | -2 | c.*23 others(13): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2375 | chr7 | TogoVar | |||||
ATXN7L1_chr7_105599772_105881599 | 105605485 | GGT | G | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01168.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0011 | a0001c0001t0008a0001c0001t0022a0001c0001t0033others(5): Show | a0001c0001t0008g0015a0001c0001t0008g0045a0001c0001t0008g0073others(13): Show | 16 | 252 | 0.0635 | -2 | c.*23 others(13): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2365 | chr7 | TogoVar | |||||
ATXN7L1_chr7_105599772_105881599 | 105628950 | TTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(241): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(241): Show | 244 | 252 | 0.9683 | -2 | c.120 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105641214 | CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp1 others(64): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0080others(64): Show | 67 | 252 | 0.2659 | -2 | c.862 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105650405 | TAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01256.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(2): Show | a0001c0001t0003g0235a0001c0001t0013g0241a0001c0001t0013g0242others(4): Show | 7 | 252 | 0.0278 | -2 | c.579 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105658523 | CTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0145a0001c0001t0004g0203others(4): Show | 7 | 252 | 0.0278 | -2 | c.578 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105660460 | ATT | A | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01167.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0201others(18): Show | 21 | 252 | 0.0833 | -2 | c.578 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar |