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 | 77750691 | CCT | C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 218 | 0.0046 | -2 | c.21- others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77752743 | GGT | G | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0056 | 1 | 218 | 0.0046 | -2 | c.20+ others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77763473 | TAA | T | intron_variant | MODIFIER | HG02895.hp1 HG03492.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0195a0001c0001t0007g0068a0001c0003t0001g0080others(1): Show | 4 | 218 | 0.0184 | -2 | c.20+ others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77765896 | AAC | A | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073a0001c0001t0005g0074 | 2 | 218 | 0.0092 | -2 | c.20+ others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77776342 | TAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(57): Show |
a0001a0004 | a0001c0001a0001c0013a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(57): Show | 60 | 218 | 0.2752 | -2 | c.20+ others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77777189 | ACT | A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 218 | 0.0046 | -2 | c.20+ others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77781176 | TCA | T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02451.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0005g0069a0001c0001t0005g0073a0001c0001t0005g0074others(16): Show | 19 | 218 | 0.0872 | -2 | c.20+ others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77786905 | TAC | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp1 others(49): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(49): Show | 52 | 218 | 0.2385 | -2 | c.-90 others(11): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790921 | CAT | C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02572.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0003 | a0001c0001t0001g0198a0001c0001t0005g0075a0001c0001t0005g0213others(1): Show | 4 | 218 | 0.0184 | -2 | c.-49 others(13): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4706 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790934 | GTA | G | upstream_gene_variant | MODIFIER | HG01516.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0139a0001c0003t0001g0155 | 2 | 218 | 0.0092 | -2 | c.-49 others(13): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790990 | CTA | C | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0083 | 1 | 218 | 0.0046 | -2 | c.-49 others(13): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142465592 | ACT | A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG02027.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(22): Show | 25 | 322 | 0.0776 | -2 | c.689 others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 40/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142472085 | TTG | T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01123.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0108a0001c0006t0001g0008a0001c0006t0001g0009others(9): Show | 12 | 322 | 0.0373 | -2 | c.622 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142473941 | ATT | A | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG00738.hp1 others(25): Show |
a0001a0003a0012 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0057a0001c0001t0001g0096others(25): Show | 28 | 322 | 0.0870 | -2 | c.622 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTA | C | intron_variant | MODIFIER | HG01069.hp2 HG01358.hp1 HG02273.hp1 others(7): Show |
a0002a0006 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0001a0002c0007t0001others(2): Show | a0002c0002t0001g0250a0002c0002t0001g0255a0002c0002t0001g0258others(7): Show | 10 | 322 | 0.0311 | -2 | c.589 others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142514807 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0088a0001c0001t0001g0093a0001c0004t0001g0025others(62): Show | 66 | 322 | 0.2050 | -2 | c.450 others(19): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 25/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142516984 | AAT | A | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02922.hp2 others(3): Show |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0001a0012c0021t0001 | a0001c0006t0001g0016a0001c0006t0001g0017a0001c0006t0001g0019others(3): Show | 6 | 322 | 0.0186 | -2 | c.438 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142517350 | TAA | T | intron_variant | MODIFIER | HG01192.hp1 HG02523.hp1 HG03041.hp2 others(5): Show |
a0001a0003a0011 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0094others(5): Show | 8 | 322 | 0.0248 | -2 | c.438 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142530286 | CTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01358.hp1 HG01934.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0027a0002c0005t0001g0028a0002c0005t0001g0029others(1): Show | 4 | 322 | 0.0124 | -2 | c.394 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142544621 | CAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(22): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0034others(22): Show | 25 | 322 | 0.0776 | -2 | c.335 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142553457 | CAT | C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0016a0001c0006t0001g0017a0001c0006t0001g0019others(2): Show | 5 | 322 | 0.0155 | -2 | c.263 others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 12/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142572372 | CTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(6): Show |
a0001a0012 | a0001c0004a0001c0006a0012c0021 | a0001c0004t0001a0001c0004t0002a0001c0006t0001others(1): Show | a0001c0004t0001g0154a0001c0004t0002g0003a0001c0004t0002g0004others(6): Show | 9 | 322 | 0.0280 | -2 | c.60- others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142573453 | CAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0147a0001c0004t0001g0205a0001c0004t0001g0206others(6): Show | 9 | 322 | 0.0280 | -2 | c.59+ others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142574458 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(114): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0032others(114): Show | 117 | 322 | 0.3634 | -2 | c.59+ others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142575468 | CAA | C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00673.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0034others(64): Show | 67 | 322 | 0.2081 | -2 | c.59+ others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142577073 | CTA | C | intron_variant | MODIFIER | HG01081.hp2 HG01358.hp1 HG01934.hp2 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0027a0002c0005t0001g0028a0002c0005t0001g0029others(1): Show | 4 | 322 | 0.0124 | -2 | c.59+ others(17): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142583610 | TGA | T | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18960.hp1 NA18963.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213a0002c0002t0001g0222a0002c0002t0001g0251others(4): Show | 7 | 322 | 0.0217 | -2 | c.-49 others(13): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 4878 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45667946 | GAT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00621.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0136a0001c0001t0001g0139others(68): Show | 71 | 316 | 0.2247 | -2 | c.-41 others(13): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3887 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45670438 | CTT | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01168.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0001t0001g0081others(10): Show | 13 | 316 | 0.0411 | -2 | c.-16 others(13): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1395 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45682498 | CAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01070.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0091a0001c0001t0001g0106a0001c0001t0001g0110others(25): Show | 28 | 316 | 0.0886 | -2 | c.117 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45707044 | CAT | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0067a0001c0001t0001g0069a0001c0001t0001g0071others(19): Show | 22 | 316 | 0.0696 | -2 | c.647 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 5/11 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45716508 | TTG | T | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01168.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0121a0001c0001t0003g0122a0001c0001t0003g0123others(5): Show | 8 | 316 | 0.0253 | -2 | c.648 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45723165 | GTA | G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0136a0001c0001t0001g0282a0001c0001t0001g0289others(8): Show | 11 | 316 | 0.0348 | -2 | c.728 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45724046 | GTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(310): Show | 313 | 316 | 0.9905 | -2 | c.729 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45725401 | ATT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0282a0001c0001t0001g0283others(15): Show | 18 | 316 | 0.0570 | -2 | c.729 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45735812 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(100): Show | 103 | 316 | 0.3260 | -2 | c.895 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45737690 | CTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018 | a0001c0001t0001g0069a0001c0001t0001g0283a0001c0001t0001g0284others(6): Show | 9 | 316 | 0.0285 | -2 | c.895 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740679 | TAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0218a0001c0001t0001g0265others(4): Show | 7 | 316 | 0.0222 | -2 | c.117 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751427 | TGA | T | intron_variant | MODIFIER | HG03225.hp2 NA18982.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0136a0001c0001t0001g0253a0001c0001t0007g0204others(1): Show | 4 | 316 | 0.0127 | -2 | 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 | 45751739 | GGA | G | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122a0001c0001t0003g0123a0001c0001t0003g0124others(1): Show | 4 | 316 | 0.0127 | -2 | c.117 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751843 | GTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(74): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0064others(74): Show | 77 | 316 | 0.2437 | -2 | 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 | 45794384 | CAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(1): Show | 4 | 316 | 0.0127 | -2 | 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 | 45817318 | CTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0091a0001c0001t0001g0114a0001c0001t0001g0173others(46): Show | 49 | 316 | 0.1551 | -2 | c.123 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45822523 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0269a0001c0001t0001g0270others(27): Show | 30 | 316 | 0.0949 | -2 | c.123 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45827129 | CCA | C | intron_variant | MODIFIER | HG00597.hp1 HG01943.hp1 HG02135.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(13): Show | 16 | 316 | 0.0506 | -2 | 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 | 71849215 | TTA | T | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp2 HG01943.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0004g0011a0002c0002t0001g0011others(1): Show | 9 | 418 | 0.0215 | -2 | c.-11 others(19): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | TCA | T | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01070.hp2 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0028a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(14): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(30): Show | 33 | 182 | 0.1813 | -2 | c.191 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16317375 | AGT | A | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02451.hp1 others(2): Show |
a0001a0006a0022others(1): Show | a0001c0027a0006c0046a0022c0019others(1): Show | a0001c0027t0001a0006c0046t0001a0022c0019t0001others(1): Show | a0001c0027t0001g0024a0006c0046t0001g0012a0022c0019t0001g0025others(2): Show | 5 | 182 | 0.0275 | -2 | c.191 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16323525 | CAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01496.hp1 others(43): Show |
a0001a0004a0005others(13): Show | a0001c0001a0001c0027a0001c0028others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(27): Show | a0001c0001t0001g0045a0001c0001t0001g0158a0001c0001t0002g0020others(43): Show | 46 | 182 | 0.2528 | -2 | c.191 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16341514 | ATT | A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02630.hp2 others(4): Show |
a0006a0007a0029others(1): Show | a0006c0046a0007c0009a0007c0059others(2): Show | a0006c0046t0001a0007c0009t0002a0007c0059t0012others(2): Show | a0006c0046t0001g0012a0007c0009t0002g0028a0007c0009t0002g0056others(4): Show | 7 | 182 | 0.0385 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar |