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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77538230 | AACAC | A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 218 | 0.0046 | -4 | c.670 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77551773 | AAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(57): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(57): Show | 60 | 218 | 0.2752 | -4 | c.669 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77563702 | CGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0195a0001c0001t0002g0091a0001c0001t0002g0123others(85): Show | 88 | 218 | 0.4037 | -4 | c.632 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77569523 | AAAAC | A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0134 | 1 | 218 | 0.0046 | -4 | c.632 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77574890 | ATGTG | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02922.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0198a0001c0001t0002g0199a0001c0001t0003g0200others(3): Show | 6 | 218 | 0.0275 | -4 | c.621 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77582577 | TAAAC | T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 | 1 | 218 | 0.0046 | -4 | c.621 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01081.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0132a0001c0001t0001g0139a0001c0001t0001g0149others(9): Show | 12 | 218 | 0.0551 | -4 | c.621 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77595932 | TTAAG | T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 218 | 0.0046 | -4 | c.595 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 25/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77597509 | AACAG | A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 218 | 0.0046 | -4 | c.595 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 25/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01167.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0149a0001c0001t0002g0105a0001c0001t0002g0106others(20): Show | 23 | 218 | 0.1055 | -4 | c.513 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77636985 | AGAAG | A | intron_variant | MODIFIER | HG00738.hp1 HG02559.hp1 HG02922.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0080a0001c0003t0001g0094a0001c0003t0001g0095others(8): Show | 11 | 218 | 0.0505 | -4 | c.455 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77647805 | TGATA | T | intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 218 | 0.0046 | -4 | c.455 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | CAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG02055.hp1 HG02056.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(1): Show | a0001c0001t0002g0181a0001c0001t0005g0213a0001c0001t0020g0180others(1): Show | 4 | 218 | 0.0184 | -4 | c.455 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77659482 | TACAC | T | intron_variant | MODIFIER | HG02132.hp1 HG02280.hp2 HG02559.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0198a0001c0001t0002g0098a0001c0001t0002g0199others(10): Show | 13 | 218 | 0.0596 | -4 | c.412 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 12/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77667295 | ATGTG | A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01109.hp1 others(24): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0198a0001c0001t0002g0072a0001c0001t0002g0216others(24): Show | 27 | 218 | 0.1239 | -4 | c.381 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671165 | AAAAT | A | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01943.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0096a0001c0001t0002g0216a0001c0001t0009g0002others(2): Show | 5 | 218 | 0.0229 | -4 | c.380 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | AATAT | A | intron_variant | MODIFIER | HG00738.hp1 HG03453.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080a0001c0003t0001g0095a0001c0003t0001g0167others(1): Show | 4 | 218 | 0.0184 | -4 | c.380 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77674698 | TTGAG | T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 218 | 0.0046 | -4 | c.380 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77678236 | GAGAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0198a0001c0001t0002g0199a0001c0001t0003g0200others(75): Show | 78 | 218 | 0.3578 | -4 | c.373 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 9/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77689556 | TGCAG | T | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 218 | 0.0046 | -4 | c.485 others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 6/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77692846 | AGTGT | A | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01192.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0149a0001c0001t0003g0163a0001c0001t0003g0164others(10): Show | 13 | 218 | 0.0596 | -4 | c.484 others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 6/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTT | A | intron_variant | MODIFIER | HG03195.hp2 HG03239.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0195a0001c0001t0002g0199a0001c0001t0011g0001 | 3 | 218 | 0.0138 | -4 | c.133 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77734208 | AATAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0087a0001c0001t0001g0139a0001c0001t0001g0195others(82): Show | 85 | 218 | 0.3899 | -4 | c.21- others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77735598 | CTAAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02165.hp1 NA18965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0017 | a0001c0001t0002g0184a0001c0001t0004g0187a0001c0001t0004g0192others(3): Show | 6 | 218 | 0.0275 | -4 | c.21- others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77737479 | TAATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0198a0001c0001t0002g0199a0001c0001t0003g0200others(77): Show | 80 | 218 | 0.3670 | -4 | c.21- others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77760621 | AAAAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02922.hp1 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0198a0001c0001t0002g0199a0001c0001t0003g0200others(4): Show | 7 | 218 | 0.0321 | -4 | c.20+ others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77774882 | TTTTG | T | intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01975.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0118a0001c0001t0002g0119a0001c0001t0002g0120others(25): Show | 28 | 218 | 0.1284 | -4 | c.20+ others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77778924 | ATCTC | A | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02273.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0009a0001c0014t0012 | a0001c0001t0009g0002a0001c0001t0009g0004a0001c0014t0012g0003 | 3 | 218 | 0.0138 | -4 | c.20+ others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77786905 | TACAC | T | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02723.hp1 others(13): Show |
a0001 | a0001c0001a0001c0007a0001c0014 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0090a0001c0001t0002g0106a0001c0001t0002g0173others(13): Show | 16 | 218 | 0.0734 | -4 | c.-90 others(13): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790928 | ATATG | A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0073a0001c0001t0005g0074a0001c0001t0008g0077 | 3 | 218 | 0.0138 | -4 | c.-49 others(15): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4713 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142472085 | TTGTG | T | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01256.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0039others(10): Show | 13 | 322 | 0.0404 | -4 | c.622 others(23): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142486058 | CACTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0001a0012c0021t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(14): Show | 17 | 322 | 0.0528 | -4 | c.607 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 35/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATA | C | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01433.hp1 others(6): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0023a0002c0002t0001g0217a0002c0002t0001g0222others(6): Show | 9 | 322 | 0.0280 | -4 | c.589 others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142510694 | TGTTA | T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(8): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(8): Show | 11 | 322 | 0.0342 | -4 | c.485 others(23): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 27/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142553455 | CACAT | C | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01884.hp1 others(8): Show |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0001a0012c0021t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(8): Show | 11 | 322 | 0.0342 | -4 | c.263 others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 12/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142558523 | AAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(112): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0018others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0018t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(112): Show | 115 | 322 | 0.3571 | -4 | c.188 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 8/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142558557 | AATAG | A | intron_variant | MODIFIER | NA18971.hp1 NA18973.hp2 NA18986.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0300a0002c0002t0001g0301a0002c0002t0001g0302others(1): Show | 4 | 322 | 0.0124 | -4 | c.188 others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 8/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142571465 | CAATA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0032a0001c0001t0001g0034others(101): Show | 106 | 322 | 0.3292 | -4 | c.60- others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142573515 | AAAAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0001a0012c0021t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(14): Show | 17 | 322 | 0.0528 | -4 | c.59+ others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45667946 | GATAT | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(134): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 137 | 316 | 0.4335 | -4 | c.-41 others(15): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3887 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45670438 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(80): Show | 83 | 316 | 0.2627 | -4 | c.-16 others(15): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1395 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45686261 | GCAAA | G | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp2 HG03225.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0065others(1): Show | 4 | 316 | 0.0127 | -4 | c.117 others(21): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740679 | TACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01071.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0077a0001c0001t0001g0090others(43): Show | 46 | 316 | 0.1456 | -4 | c.117 others(21): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45773844 | ATGTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0086a0001c0001t0006g0117a0001c0001t0006g0119others(1): Show | 4 | 316 | 0.0127 | -4 | c.117 others(25): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45803117 | ACACT | A | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0283a0001c0001t0001g0284others(2): Show | 5 | 316 | 0.0158 | -4 | c.117 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45827129 | CCACA | C | intron_variant | MODIFIER | HG02976.hp1 HG04204.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0283a0001c0001t0001g0285 | 3 | 316 | 0.0095 | -4 | c.123 others(25): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45840335 | AAGAG | A | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0069others(22): Show | 25 | 316 | 0.0791 | -4 | c.123 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1L_chr16_71840976_71862328 | 71844479 | TACAC | T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01070.hp2 others(87): Show |
a0001a0004a0005 | a0001c0001a0001c0013a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0002a0001c0001t0002g0002a0001c0001t0002g0010others(19): Show | 90 | 418 | 0.2153 | -4 | c.-18 others(15): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 1496 | chr16 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71858746 | AAAAC | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01168.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0005a0001c0001t0003g0009a0001c0001t0003g0019others(3): Show | 24 | 418 | 0.0574 | -4 | c.*69 others(15): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 1419 | chr16 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | TCACA | T | intron_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG02055.hp1 others(4): Show |
a0001a0011a0016others(2): Show | a0001c0029a0011c0007a0016c0014others(2): Show | a0001c0029t0039a0001c0029t0048a0011c0007t0002others(4): Show | a0001c0029t0039g0041a0001c0029t0048g0031a0011c0007t0002g0040others(4): Show | 7 | 182 | 0.0385 | -4 | c.191 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar |