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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1L_chr16_71840976_71862328 | 71849215 | T | TAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0028others(1): Show | a0001c0001t0003g0009a0001c0001t0019g0009a0001c0001t0028g0009others(1): Show | 12 | 418 | 0.0287 | 4 | c.-11 others(21): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16298933 | A | ATCTC | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02723.hp1 others(2): Show |
a0001a0003a0005others(2): Show | a0001c0052a0003c0003a0005c0006others(2): Show | a0001c0052t0047a0003c0003t0009a0005c0006t0009others(2): Show | a0001c0052t0047g0060a0003c0003t0009g0055a0005c0006t0009g0163others(2): Show | 5 | 182 | 0.0275 | 4 | c.*73 others(15): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 178 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16301085 | C | CTTTT | 3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01496.hp1 others(2): Show |
a0001a0015a0021 | a0001c0001a0001c0028a0015c0030others(1): Show | a0001c0001t0030a0001c0028t0015a0015c0030t0014others(1): Show | a0001c0001t0030g0021a0001c0028t0015g0017a0001c0028t0015g0125others(2): Show | 5 | 182 | 0.0275 | 4 | c.*52 others(15): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 5243 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCACA | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01361.hp2 others(5): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0005others(4): Show | a0002c0002t0016a0003c0003t0002a0004c0005t0002others(4): Show | a0002c0002t0016g0111a0003c0003t0002g0120a0004c0005t0002g0075others(5): Show | 8 | 182 | 0.0440 | 4 | c.191 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCTCA | intron_variant | MODIFIER | HG02056.hp2 HG02886.hp2 HG02895.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0003a0002c0002t0008a0005c0006t0003 | a0002c0002t0003g0007a0002c0002t0008g0081a0005c0006t0003g0057others(1): Show | 4 | 182 | 0.0220 | 4 | c.191 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16330069 | T | TTTTC | intron_variant | MODIFIER | HG01081.hp2 HG02602.hp2 HG02886.hp1 |
a0003a0006a0009 | a0003c0003a0006c0043a0009c0016 | a0003c0003t0001a0006c0043t0010a0009c0016t0007 | a0003c0003t0001g0109a0006c0043t0010g0128a0009c0016t0007g0151 | 3 | 182 | 0.0165 | 4 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16367335 | C | CTCTT | intron_variant | MODIFIER | HG00735.hp1 HG02896.hp2 |
a0003a0013 | a0003c0051a0013c0038 | a0003c0051t0010a0013c0038t0034 | a0003c0051t0010g0173a0013c0038t0034g0139 | 2 | 182 | 0.0110 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16378537 | C | CTTTA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(35): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0004others(20): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(27): Show | a0001c0001t0001g0123a0001c0001t0011g0131a0001c0001t0020g0002others(35): Show | 38 | 182 | 0.2088 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TCACA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(37): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0027a0001c0028others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(24): Show | a0001c0001t0001g0103a0001c0001t0001g0123a0001c0001t0001g0178others(37): Show | 40 | 182 | 0.2198 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16426607 | A | ATGTG | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 |
a0003a0028 | a0003c0003a0028c0053 | a0003c0003t0013a0028c0053t0004 | a0003c0003t0013g0033a0028c0053t0004g0065 | 2 | 182 | 0.0110 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16429377 | T | TAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01255.hp2 others(23): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0027a0001c0028others(14): Show | a0001c0001t0030a0001c0027t0001a0001c0028t0015others(18): Show | a0001c0001t0030g0021a0001c0027t0001g0024a0001c0028t0015g0017others(23): Show | 26 | 182 | 0.1429 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16439338 | C | CGGGG | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG02280.hp1 others(11): Show |
a0002a0003a0004others(8): Show | a0002c0002a0002c0004a0003c0003others(9): Show | a0002c0002t0002a0002c0004t0001a0003c0003t0037others(9): Show | a0002c0002t0002g0089a0002c0004t0001g0080a0002c0004t0001g0084others(11): Show | 14 | 182 | 0.0769 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAAA | intron_variant | MODIFIER | HG00642.hp1 HG02602.hp1 HG03225.hp1 others(2): Show |
a0003a0004a0005others(2): Show | a0003c0003a0004c0031a0005c0006others(2): Show | a0003c0003t0037a0004c0031t0002a0005c0006t0006others(2): Show | a0003c0003t0037g0150a0004c0031t0002g0101a0005c0006t0006g0010others(2): Show | 5 | 182 | 0.0275 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16471191 | A | AACAC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0027a0001c0028others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0083a0001c0001t0001g0103a0001c0001t0001g0105others(42): Show | 45 | 182 | 0.2473 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16474864 | A | ACACT | intron_variant | MODIFIER | HG00735.hp2 HG02523.hp2 HG03041.hp1 others(3): Show |
a0001a0005a0008others(3): Show | a0001c0001a0005c0006a0008c0024others(3): Show | a0001c0001t0005a0005c0006t0003a0008c0024t0001others(3): Show | a0001c0001t0005g0085a0005c0006t0003g0166a0008c0024t0001g0143others(3): Show | 6 | 182 | 0.0330 | 4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTA | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01074.hp1 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0008others(13): Show | a0001c0001t0001g0083a0001c0001t0001g0108a0001c0001t0001g0178others(16): Show | 19 | 182 | 0.1044 | 4 | c.-16 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16510737 | C | CATAA | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02486.hp1 others(10): Show |
a0001a0002a0005others(5): Show | a0001c0028a0001c0052a0002c0004others(7): Show | a0001c0028t0015a0001c0052t0047a0002c0004t0001others(9): Show | a0001c0028t0015g0017a0001c0052t0047g0060a0002c0004t0001g0182others(10): Show | 13 | 182 | 0.0714 | 4 | c.-29 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16526041 | C | CTATA | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01074.hp1 others(8): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0028a0003c0003others(5): Show | a0001c0001t0002a0001c0028t0015a0003c0003t0009others(7): Show | a0001c0001t0002g0077a0001c0028t0015g0017a0003c0003t0009g0055others(8): Show | 11 | 182 | 0.0604 | 4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16574201 | A | ATTAT | intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001a0034 | a0001c0028a0034c0047 | a0001c0028t0015a0034c0047t0002 | a0001c0028t0015g0017a0034c0047t0002g0029 | 2 | 182 | 0.0110 | 4 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16579480 | G | GCCCC | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(25): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0103a0001c0001t0001g0158a0001c0001t0002g0020others(25): Show | 28 | 182 | 0.1539 | 4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584223 | C | CATAT | intron_variant | MODIFIER | HG02056.hp1 NA18747.hp2 |
a0008 | a0008c0012 | a0008c0012t0005 | a0008c0012t0005g0078a0008c0012t0005g0092 | 2 | 182 | 0.0110 | 4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584243 | T | TACAC | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02451.hp1 others(12): Show |
a0001a0003a0005others(7): Show | a0001c0028a0001c0029a0003c0003others(9): Show | a0001c0028t0015a0001c0029t0048a0003c0003t0009others(12): Show | a0001c0028t0015g0017a0001c0029t0048g0031a0003c0003t0009g0055others(12): Show | 15 | 182 | 0.0824 | 4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584633 | A | ACCCC | intron_variant | MODIFIER | HG01255.hp2 HG02486.hp2 HG02615.hp1 others(7): Show |
a0001a0005a0006others(4): Show | a0001c0028a0001c0029a0005c0006others(5): Show | a0001c0028t0015a0001c0029t0048a0005c0006t0003others(6): Show | a0001c0028t0015g0017a0001c0029t0048g0031a0005c0006t0003g0006others(7): Show | 10 | 182 | 0.0550 | 4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16586040 | T | TGCGC | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
a0001a0005a0009others(2): Show | a0001c0001a0005c0006a0009c0025others(2): Show | a0001c0001t0020a0005c0006t0003a0009c0025t0033others(2): Show | a0001c0001t0020g0002a0005c0006t0003g0006a0009c0025t0033g0165others(2): Show | 5 | 182 | 0.0275 | 4 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCGCA | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 NA18993.hp1 |
a0001a0004a0023 | a0001c0001a0004c0015a0023c0035 | a0001c0001t0001a0004c0015t0001a0023c0035t0001 | a0001c0001t0001g0159a0004c0015t0001g0157a0023c0035t0001g0064 | 3 | 182 | 0.0165 | 4 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16593858 | C | CATAT | intron_variant | MODIFIER | HG01255.hp1 HG01978.hp2 HG02630.hp2 others(2): Show |
a0001a0007a0009others(1): Show | a0001c0027a0001c0052a0007c0009others(2): Show | a0001c0027t0001a0001c0052t0047a0007c0009t0002others(2): Show | a0001c0027t0001g0107a0001c0052t0047g0060a0007c0009t0002g0028others(2): Show | 5 | 182 | 0.0275 | 4 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16610254 | A | AAACC | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01109.hp2 others(22): Show |
a0001a0003a0005others(10): Show | a0001c0001a0001c0052a0003c0003others(14): Show | a0001c0001t0001a0001c0052t0047a0003c0003t0009others(16): Show | a0001c0001t0001g0105a0001c0052t0047g0060a0003c0003t0009g0055others(22): Show | 25 | 182 | 0.1374 | 4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16611849 | A | ATTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02056.hp1 others(9): Show |
a0001a0004a0008others(4): Show | a0001c0001a0004c0005a0004c0015others(6): Show | a0001c0001t0001a0004c0005t0002a0004c0005t0008others(7): Show | a0001c0001t0001g0105a0004c0005t0002g0096a0004c0005t0002g0160others(9): Show | 12 | 182 | 0.0659 | 4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16620262 | A | AACAC | intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01496.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0001c0001t0030a0002c0004t0017others(1): Show | a0001c0001t0001g0159a0001c0001t0030g0021a0002c0004t0017g0179others(1): Show | 4 | 182 | 0.0220 | 4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16642395 | A | AAAAC | intron_variant | MODIFIER | HG00438.hp1 HG02886.hp2 NA20752.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0015 | a0001c0001t0002a0002c0002t0003a0004c0015t0001 | a0001c0001t0002g0076a0002c0002t0003g0007a0004c0015t0001g0157 | 3 | 182 | 0.0165 | 4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16644563 | G | GGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(73): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0028a0001c0029others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(55): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0001g0108others(73): Show | 76 | 182 | 0.4176 | 4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16660832 | G | GTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp1 HG01255.hp2 others(3): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0003a0006c0008others(2): Show | a0002c0002t0003a0003c0003t0013a0006c0008t0002others(2): Show | a0002c0002t0003g0007a0002c0002t0003g0133a0003c0003t0013g0027others(3): Show | 6 | 182 | 0.0330 | 4 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16673020 | C | CAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01168.hp1 others(5): Show |
a0001a0007a0012others(2): Show | a0001c0001a0007c0009a0012c0011others(2): Show | a0001c0001t0001a0001c0001t0044a0007c0009t0002others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0001g0108others(5): Show | 8 | 182 | 0.0440 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16674336 | C | CTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02280.hp1 others(6): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0028a0005c0006others(4): Show | a0001c0001t0030a0001c0028t0015a0005c0006t0003others(4): Show | a0001c0001t0030g0021a0001c0028t0015g0125a0005c0006t0003g0006others(6): Show | 9 | 182 | 0.0495 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16679221 | A | AGGAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(133): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0027a0001c0028others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(90): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0103others(133): Show | 136 | 182 | 0.7473 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16679276 | G | GTGGA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00642.hp1 others(31): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0003c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(30): Show | a0001c0001t0001g0045a0001c0001t0002g0076a0001c0001t0011g0131others(31): Show | 34 | 182 | 0.1868 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16679372 | G | GTGGA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0003others(4): Show | a0001c0001t0002g0076a0001c0001t0011g0131a0002c0002t0003g0007others(5): Show | 8 | 182 | 0.0440 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACAC | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02723.hp2 others(6): Show |
a0001a0005a0006others(3): Show | a0001c0001a0005c0006a0006c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0037a0001c0001t0002g0077a0001c0001t0002g0129others(6): Show | 9 | 182 | 0.0495 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16689047 | C | CTGTG | intron_variant | MODIFIER | HG00423.hp2 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0105a0002c0004t0001g0182 | 2 | 182 | 0.0110 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16706736 | A | AAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(26): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0027a0002c0002others(13): Show | a0001c0001t0029a0001c0001t0044a0001c0027t0001others(18): Show | a0001c0001t0029g0145a0001c0001t0044g0118a0001c0027t0001g0024others(26): Show | 29 | 182 | 0.1593 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16711977 | C | CTGAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(138): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0027a0001c0028others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(88): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(138): Show | 141 | 182 | 0.7747 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16731454 | C | CTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG02451.hp2 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0008others(2): Show | a0001c0001t0001a0001c0001t0029a0002c0002t0008others(3): Show | a0001c0001t0001g0159a0001c0001t0029g0145a0002c0002t0008g0138others(3): Show | 6 | 182 | 0.0330 | 4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CATGT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001a0021 | a0001c0001a0021c0021 | a0001c0001t0001a0021c0021t0014 | a0001c0001t0001g0083a0021c0021t0014g0082 | 2 | 182 | 0.0110 | 4 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CGTGT | intron_variant | MODIFIER | HG01168.hp2 HG01884.hp1 HG02135.hp1 others(7): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0015others(6): Show | a0001c0001t0020a0003c0003t0001a0004c0015t0001others(7): Show | a0001c0001t0020g0002a0003c0003t0001g0180a0004c0015t0001g0152others(7): Show | 10 | 182 | 0.0550 | 4 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745954 | G | GTGTA | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01346.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0044a0002c0002t0008a0002c0004t0017others(2): Show | a0001c0001t0044g0118a0002c0002t0008g0116a0002c0004t0017g0121others(2): Show | 5 | 182 | 0.0275 | 4 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16759530 | G | GTTTT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02056.hp1 others(8): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0008others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0123a0001c0001t0005g0085others(8): Show | 11 | 182 | 0.0604 | 4 | c.-73 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16760016 | A | ACACT | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01978.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0044a0002c0004t0017a0003c0003t0002others(2): Show | a0001c0001t0044g0118a0002c0004t0017g0121a0003c0003t0002g0120others(2): Show | 5 | 182 | 0.0275 | 4 | c.-73 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761557 | G | GCCCT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(32): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0027a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0083a0001c0001t0001g0103a0001c0001t0001g0105others(32): Show | 35 | 182 | 0.1923 | 4 | c.-99 others(13): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 98 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28838566 | T | TAAAA | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007a0001c0002t0001g0019a0001c0002t0001g0028others(2): Show | 15 | 382 | 0.0393 | 4 | c.*23 others(15): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 1335 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28840629 | T | TTTTC | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG01891.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0002t0001a0001c0012t0001 | a0001c0001t0001g0042a0001c0001t0001g0054a0001c0002t0001g0007others(9): Show | 27 | 382 | 0.0707 | 4 | c.*43 others(15): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3398 | chr16 | TogoVar |