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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105662069 | TCC | 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 | -2 | c.578 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105662073 | TCC | T | intron_variant | MODIFIER | HG02300.hp2 NA18970.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0082a0001c0001t0011g0012a0001c0001t0011g0157others(1): Show | 4 | 252 | 0.0159 | -2 | c.578 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105662080 | TTC | 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 | -2 | c.578 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105671889 | CAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01099.hp2 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0017a0001c0001t0001g0080a0001c0001t0001g0081others(40): Show | 43 | 252 | 0.1706 | -2 | c.356 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105675157 | TAA | T | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01099.hp1 others(41): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0088others(41): Show | 44 | 252 | 0.1746 | -2 | c.356 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105675884 | CTT | C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01099.hp1 others(43): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0088others(43): Show | 46 | 252 | 0.1825 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105698920 | GAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(169): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0026others(169): Show | 172 | 252 | 0.6825 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105700468 | CCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0026others(91): Show | 94 | 252 | 0.3730 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105702545 | AAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0078others(116): Show | 119 | 252 | 0.4722 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105704584 | CTT | C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01167.hp2 others(20): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0033others(20): Show | 23 | 252 | 0.0913 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105711259 | CAT | C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01167.hp2 others(32): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0085others(32): Show | 35 | 252 | 0.1389 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | GCA | G | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01243.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0239a0001c0001t0003g0011a0001c0001t0004g0127others(14): Show | 17 | 252 | 0.0675 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0082a0001c0001t0001g0119a0001c0001t0002g0002others(9): Show | 12 | 252 | 0.0476 | -2 | c.356 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | GTA | G | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01081.hp2 others(8): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0082a0001c0001t0004g0084a0001c0001t0007g0202others(8): Show | 11 | 252 | 0.0437 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105729430 | CTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01099.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0044others(58): Show | 61 | 252 | 0.2421 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105734802 | TAG | T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(225): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(225): Show | 228 | 252 | 0.9048 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105748116 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0044others(60): Show | 63 | 252 | 0.2500 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105756263 | CTG | C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00738.hp2 others(61): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0033others(61): Show | 64 | 252 | 0.2540 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105759161 | CTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01516.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0026a0001c0001t0001g0085a0001c0001t0002g0048others(10): Show | 13 | 252 | 0.0516 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105759449 | AGT | A | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0002g0188others(3): Show | 6 | 252 | 0.0238 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105772063 | ATT | A | intron_variant | MODIFIER | HG01952.hp2 HG03831.hp1 HG03942.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0009g0146a0001c0001t0010g0051a0001c0001t0011g0170others(4): Show | 7 | 252 | 0.0278 | -2 | c.355 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105784435 | AAC | A | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0015others(3): Show | a0001c0001t0006g0116a0001c0001t0013g0156a0001c0001t0015g0193others(3): Show | 6 | 252 | 0.0238 | -2 | c.355 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105785776 | TTC | T | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0026a0001c0001t0001g0085a0001c0001t0001g0214others(17): Show | 20 | 252 | 0.0794 | -2 | c.355 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105794035 | CAT | C | intron_variant | MODIFIER | HG00280.hp1 HG01175.hp1 HG01261.hp1 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0015a0004c0013t0036 | a0001c0001t0001g0108a0001c0001t0015g0060a0004c0013t0036g0107 | 3 | 252 | 0.0119 | -2 | c.251 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105833604 | TTC | T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0059a0001c0001t0001g0181a0001c0001t0001g0222others(25): Show | 28 | 252 | 0.1111 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105835149 | GTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01069.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0033others(48): Show | 51 | 252 | 0.2024 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105836382 | GAA | G | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG02027.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0185a0001c0001t0002g0002a0001c0001t0002g0142others(10): Show | 13 | 252 | 0.0516 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105854471 | GAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0017others(106): Show | 109 | 252 | 0.4325 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105854530 | GAA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(222): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(222): Show | 225 | 252 | 0.8929 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105860146 | TAC | T | intron_variant | MODIFIER | HG00738.hp2 HG03130.hp2 HG03490.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0002g0167a0001c0001t0008g0075a0001c0001t0010g0111others(3): Show | 6 | 252 | 0.0238 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105863914 | TAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp2 others(48): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0119a0001c0001t0001g0201others(48): Show | 51 | 252 | 0.2024 | -2 | c.250 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105870281 | CAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01256.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0003g0235a0001c0001t0007g0217a0001c0001t0008g0073others(4): Show | 7 | 252 | 0.0278 | -2 | c.250 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L2_chr1_109478905_109497734 | 109483792 | TGG | T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(6): Show | 24 | 332 | 0.0723 | -2 | c.-16 others(11): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 112 | chr1 | TogoVar | ||||||
ATXN7L2_chr1_109478905_109497734 | 109488273 | GTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(53): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0002 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0010others(6): Show | 56 | 332 | 0.1687 | -2 | c.797 others(17): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATXN7L3B_chr12_74532835_74550430 | 74535324 | CAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(194): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(27): Show | 197 | 408 | 0.4828 | -2 | c.-27 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 2510 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74535378 | AAG | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(395): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(75): Show | 398 | 408 | 0.9755 | -2 | c.-27 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 2456 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74536075 | TAA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(156): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(25): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0007g0000others(25): Show | 159 | 408 | 0.3897 | -2 | c.-20 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1759 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74540881 | GTT | G | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01175.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0049a0001c0001t0050others(1): Show | a0001c0001t0011g0000a0001c0001t0049g0000a0001c0001t0050g0000others(1): Show | 15 | 408 | 0.0368 | -2 | c.*24 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 2480 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ATXN7L3B_chr12_74532835_74550430 | 74546348 | TAA | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0023a0001c0002t0035others(1): Show | a0001c0002t0004g0000a0001c0002t0023g0000a0001c0002t0035g0000others(1): Show | 17 | 408 | 0.0417 | -2 | c.*79 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 919 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74547244 | CAG | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02622.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0021a0001c0002t0041others(3): Show | a0001c0002t0010g0000a0001c0002t0021g0000a0001c0002t0041g0000others(3): Show | 13 | 408 | 0.0319 | -2 | c.*88 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1815 | chr12 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74547809 | CTT | C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02486.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0044a0001c0002t0045others(1): Show | a0001c0002t0006g0000a0001c0002t0044g0000a0001c0002t0045g0000others(1): Show | 13 | 408 | 0.0319 | -2 | c.*94 others(13): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 2380 | chr12 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863975 | CCG | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(83): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(21): Show | a0001c0001t0002g0225a0001c0001t0005g0213a0001c0001t0005g0215others(83): Show | 86 | 300 | 0.2867 | -2 | c.-29 others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48620 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ATXN7_chr3_63858867_64008462 | 63872161 | CTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(47): Show |
a0003a0005a0017others(5): Show | a0003c0004a0005c0005a0005c0026others(7): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(13): Show | a0003c0004t0003g0158a0003c0004t0003g0168a0003c0004t0003g0169others(47): Show | 50 | 300 | 0.1667 | -2 | c.-11 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63884203 | GCA | G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02572.hp2 others(17): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0005a0002c0002t0002a0002c0002t0008others(9): Show | a0001c0001t0005g0216a0001c0001t0005g0250a0001c0001t0005g0252others(17): Show | 20 | 300 | 0.0667 | -2 | c.-11 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63890623 | CTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0053 | a0001c0001t0001g0128a0001c0001t0006g0086a0001c0001t0006g0087others(4): Show | 7 | 300 | 0.0233 | -2 | c.-11 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63892374 | CCA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(106): Show |
a0001a0002a0004others(8): Show | a0001c0001a0002c0002a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(32): Show | a0001c0001t0001g0026a0001c0001t0001g0036a0001c0001t0001g0038others(106): Show | 109 | 300 | 0.3633 | -2 | c.-11 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63892467 | TCA | T | intron_variant | MODIFIER | HG01175.hp2 HG02258.hp2 HG02723.hp2 others(6): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0011a0002c0002t0043a0002c0003t0015others(2): Show | a0001c0001t0011g0209a0002c0002t0043g0147a0002c0003t0015g0283others(6): Show | 9 | 300 | 0.0300 | -2 | c.-11 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63907456 | CTT | C | intron_variant | MODIFIER | HG01256.hp1 HG02717.hp1 HG02976.hp1 others(3): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0002a0012c0014others(1): Show | a0001c0001t0001a0002c0002t0013a0012c0014t0025others(2): Show | a0001c0001t0001g0064a0002c0002t0013g0011a0012c0014t0025g0007others(3): Show | 6 | 300 | 0.0200 | -2 | c.-11 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63909177 | CAG | C | intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02145.hp1 others(14): Show |
a0004a0013 | a0004c0006a0004c0027a0013c0013 | a0004c0006t0004a0004c0006t0024a0004c0006t0027others(2): Show | a0004c0006t0004g0003a0004c0006t0004g0125a0004c0006t0004g0132others(13): Show | 17 | 300 | 0.0567 | -2 | c.-11 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63919039 | AAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(108): Show |
a0001a0002a0004others(8): Show | a0001c0001a0002c0002a0002c0003others(14): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(31): Show | a0001c0001t0002g0225a0001c0001t0005g0213a0001c0001t0005g0215others(107): Show | 111 | 300 | 0.3700 | -2 | c.394 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |