| 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 | 16714173 | ACCACAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(113): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0027a0001c0028others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(75): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(113): Show | 116 | 182 | 0.6374 | -6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16714181 | CCACACA | C | intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG02257.hp2 others(1): Show |
a0002a0003a0010others(1): Show | a0002c0002a0003c0003a0010c0010others(1): Show | a0002c0002t0001a0003c0003t0001a0010c0010t0006others(1): Show | a0002c0002t0001g0071a0003c0003t0001g0039a0010c0010t0006g0008others(1): Show | 4 | 182 | 0.0220 | -6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16745933 | CGTGTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp2 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0008a0002c0004t0001others(7): Show | a0001c0001t0001g0123a0002c0002t0008g0063a0002c0004t0001g0073others(8): Show | 11 | 182 | 0.0604 | -6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16747750 | ATCTTTC | A | intron_variant | MODIFIER | HG02965.hp2 HG06807.hp2 NA18522.hp2 |
a0002a0010a0029 | a0002c0002a0010c0010a0029c0057 | a0002c0002t0010a0010c0010t0006a0029c0057t0001 | a0002c0002t0010g0015a0010c0010t0006g0014a0029c0057t0001g0016 | 3 | 182 | 0.0165 | -6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCCC | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01106.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(4): Show | 13 | 382 | 0.0340 | -6 | c.-32 others(15): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | ||||||
| ATXN2L_chr16_28817999_28842232 | 28828735 | GTTTGTT | G | intron_variant | MODIFIER | NA18947.hp2 NA18977.hp1 NA18981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 6 | 382 | 0.0157 | -6 | c.742 others(21): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATXN2_chr12_111447214_111604315 | 111465767 | CAAAAAA | C | intron_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA18964.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014a0002c0002t0001g0029a0002c0002t0001g0035others(3): Show | 6 | 298 | 0.0201 | -6 | c.284 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111483188 | AACACAT | A | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(62): Show |
a0001a0002a0003others(4): Show | a0001c0003a0002c0002a0002c0016others(7): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(10): Show | a0001c0003t0001g0129a0001c0003t0001g0133a0001c0003t0001g0191others(62): Show | 65 | 298 | 0.2181 | -6 | c.252 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111584377 | CAAAAAA | C | intron_variant | MODIFIER | HG01975.hp1 HG02559.hp2 HG03540.hp1 others(7): Show |
a0002a0014 | a0002c0002a0014c0020 | a0002c0002t0001a0014c0020t0003 | a0002c0002t0001g0015a0002c0002t0001g0018a0002c0002t0001g0035others(7): Show | 10 | 298 | 0.0336 | -6 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
| ATXN3_chr14_92053552_92111582 | 92054874 | GTTTGTT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(136): Show |
a0003a0004a0006others(35): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(82): Show | a0003c0003t0002g0036a0003c0003t0002g0058a0003c0003t0002g0061others(133): Show | 139 | 402 | 0.3458 | -6 | c.*94 others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 3677 | chr14 | TogoVar | ||||||
| ATXN3_chr14_92053552_92111582 | 92093045 | ATTTATT | A | intron_variant | MODIFIER | HG02809.hp1 HG02970.hp2 HG03486.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0028a0005c0006t0119a0005c0006t0120 | a0005c0006t0028g0005a0005c0006t0028g0194a0005c0006t0119g0192others(1): Show | 5 | 402 | 0.0124 | -6 | c.387 others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | ||||||
| ATXN3_chr14_92053552_92111582 | 92103302 | AAATAAG | A | 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 | -6 | c.24+ others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105662053 | TCCTTCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0003g0076a0001c0001t0003g0086a0001c0001t0005g0126others(2): Show | 5 | 252 | 0.0198 | -6 | c.578 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105685044 | GATAATA | G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01168.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0059a0001c0001t0001g0119a0001c0001t0003g0050others(10): Show | 13 | 252 | 0.0516 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105710401 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01167.hp2 others(31): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0085others(31): Show | 34 | 252 | 0.1349 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0082others(29): Show | 32 | 252 | 0.1270 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAAAA | T | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01433.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0009a0001c0001t0001g0080a0001c0001t0001g0081others(32): Show | 35 | 252 | 0.1389 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG02135.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0004g0039a0001c0001t0006g0116a0001c0001t0010g0032others(4): Show | 7 | 252 | 0.0278 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105727773 | TATATAC | T | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0027others(1): Show | a0001c0001t0007g0218a0001c0001t0008g0075a0001c0001t0027g0134others(1): Show | 4 | 252 | 0.0159 | -6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105748116 | CAAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01168.hp1 others(19): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0033a0001c0001t0001g0074a0001c0001t0001g0082others(19): Show | 22 | 252 | 0.0873 | -6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105771201 | GATAATA | G | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01257.hp2 others(45): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0026a0001c0001t0001g0080others(45): Show | 48 | 252 | 0.1905 | -6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105845204 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01168.hp1 others(30): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0119a0001c0001t0002g0048others(30): Show | 33 | 252 | 0.1310 | -6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105860142 | TATATAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0059a0001c0001t0003g0070others(10): Show | 13 | 252 | 0.0516 | -6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105874123 | CAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0017others(2): Show | a0001c0001t0006g0197a0001c0001t0015g0193a0001c0001t0017g0194others(3): Show | 6 | 252 | 0.0238 | -6 | c.250 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp1 HG02040.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0071 | a0001c0001t0002g0000a0001c0001t0029g0000a0001c0001t0071g0000 | 12 | 408 | 0.0294 | -6 | c.-14 others(17): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | ||||||
| ATXN7_chr3_63858867_64008462 | 63884203 | GCACACA | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(139): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(36): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0041others(139): Show | 142 | 300 | 0.4733 | -6 | c.-11 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63884236 | CACACAT | C | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01256.hp2 others(27): Show |
a0003a0005a0017others(4): Show | a0003c0004a0005c0005a0017c0034others(4): Show | a0003c0004t0003a0003c0004t0023a0003c0004t0031others(7): Show | a0003c0004t0003g0172a0003c0004t0003g0173a0003c0004t0003g0179others(27): Show | 30 | 300 | 0.1000 | -6 | c.-11 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63892374 | CCACACA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(49): Show |
a0003a0005a0017others(7): Show | a0003c0004a0005c0005a0005c0026others(9): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(15): Show | a0003c0004t0003g0158a0003c0004t0003g0168a0003c0004t0003g0169others(49): Show | 52 | 300 | 0.1733 | -6 | c.-11 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63910848 | GTAAGTA | G | intron_variant | MODIFIER | HG01070.hp2 HG02647.hp1 HG02922.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0043a0002c0002t0044 | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(2): Show | 5 | 300 | 0.0167 | -6 | c.-11 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63940285 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(61): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0005a0001c0001t0016a0002c0002t0002others(18): Show | a0001c0001t0005g0213a0001c0001t0005g0215a0001c0001t0005g0234others(61): Show | 64 | 300 | 0.2133 | -6 | c.395 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63964073 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02145.hp1 others(16): Show |
a0002a0004a0012 | a0002c0002a0002c0003a0004c0006others(2): Show | a0002c0002t0013a0002c0003t0002a0004c0006t0004others(5): Show | a0002c0002t0013g0011a0002c0003t0002g0281a0004c0006t0004g0003others(15): Show | 19 | 300 | 0.0633 | -6 | c.499 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63982623 | AGTGTGT | A | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 HG03579.hp2 others(3): Show |
a0007a0010 | a0007c0008a0010c0011 | a0007c0008t0028a0010c0011t0014 | a0007c0008t0028g0210a0007c0008t0028g0226a0010c0011t0014g0019others(3): Show | 6 | 300 | 0.0200 | -6 | c.101 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| AUH_chr9_91208823_91366918 | 91216439 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(78): Show | 83 | 358 | 0.2318 | -6 | c.895 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
| AUH_chr9_91208823_91366918 | 91249292 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(54): Show | 58 | 358 | 0.1620 | -6 | c.656 others(25): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
| AUH_chr9_91208823_91366918 | 91256002 | ATTAAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(22): Show | 26 | 358 | 0.0726 | -6 | c.656 others(25): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
| AUNIP_chr1_25829006_25864457 | 25850211 | AAACAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0010a0001c0001t0002g0045a0001c0001t0002g0046others(40): Show | 49 | 352 | 0.1392 | -6 | c.78+ others(21): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
| AUNIP_chr1_25829006_25864457 | 25860898 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0020a0001c0001t0022others(1): Show | a0001c0001t0003g0016a0001c0001t0003g0034a0001c0001t0003g0042others(7): Show | 12 | 352 | 0.0341 | -6 | c.-15 others(17): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1442 | chr1 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69598054 | ACGCCCC | A | upstream_gene_variant | MODIFIER | HG03704.hp1 NA20752.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0016a0002c0002t0024 | a0001c0001t0015g0001a0001c0001t0016g0002a0002c0002t0024g0059 | 3 | 76 | 0.0395 | -6 | c.-15 others(17): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 420 | chr7 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69750472 | TTAGTAG | T | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0061a0002c0002t0001g0057 | 2 | 76 | 0.0263 | -6 | c.310 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69850398 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0074others(7): Show | 10 | 76 | 0.1316 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69876484 | GTATATA | G | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0020a0001c0004t0013 | a0001c0001t0006g0038a0001c0001t0020g0029a0001c0004t0013g0025 | 3 | 76 | 0.0395 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69879120 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0073a0001c0001t0001g0074others(7): Show | 10 | 76 | 0.1316 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69882150 | CAAAAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01934.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0003g0076others(5): Show | 8 | 76 | 0.1053 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69886763 | TTGTGTG | T | intron_variant | MODIFIER | HG02165.hp2 HG03516.hp2 NA20752.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0018others(1): Show | a0001c0001t0015g0001a0001c0001t0016g0002a0001c0001t0018g0003others(1): Show | 4 | 76 | 0.0526 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69888540 | GATATAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01081.hp1 others(11): Show |
a0001a0003a0005 | a0001c0001a0003c0006a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0033others(11): Show | 14 | 76 | 0.1842 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69891774 | CTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0030a0001c0001t0001g0073a0001c0001t0001g0074others(5): Show | 8 | 76 | 0.1053 | -6 | c.310 others(23): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69931112 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(37): Show | 40 | 76 | 0.5263 | -6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69972670 | CATGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0068 | 3 | 76 | 0.0395 | -6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69978859 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01433.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0074others(6): Show | 9 | 76 | 0.1184 | -6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 70039350 | TTTGTTG | T | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0049a0001c0001t0002g0062a0001c0001t0010g0065 | 3 | 76 | 0.0395 | -6 | c.523 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |