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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115621272 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp2 NA18957.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045a0001c0002t0001g0048 | 2 | 128 | 0.0156 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621274 | TATAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0002t0004g0058a0001c0002t0005g0043a0001c0002t0005g0044others(7): Show | 10 | 128 | 0.0781 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621307 | AGAGAGAG others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01952.hp2 HG02015.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0008 | a0001c0002t0001a0001c0002t0004a0001c0003t0041others(2): Show | a0001c0002t0001g0041a0001c0002t0001g0050a0001c0002t0001g0051others(10): Show | 13 | 128 | 0.1016 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115630827 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0085a0001c0001t0001g0088a0001c0001t0001g0105others(15): Show | 18 | 128 | 0.1406 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115686067 | ATAATTTA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0010a0001c0003t0015a0001c0003t0038others(2): Show | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0003t0015g0108others(3): Show | 6 | 128 | 0.0469 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115696892 | AGAGAGAG others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0032 | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(1): Show | 4 | 128 | 0.0313 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115713700 | TCTATCAT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01515.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0036a0001c0001t0001g0065a0001c0001t0001g0085others(9): Show | 12 | 128 | 0.0938 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713704 | TCATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0011a0001c0010t0006 | a0001c0001t0011g0112a0001c0010t0006g0087 | 2 | 128 | 0.0156 | -8 | c.379 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115723534 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01071.hp1 others(27): Show |
a0001 | a0001c0002a0001c0006a0001c0007others(3): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(9): Show | a0001c0002t0001g0041a0001c0002t0001g0045a0001c0002t0001g0048others(27): Show | 30 | 128 | 0.2344 | -8 | c.379 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115729495 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG02135.hp1 NA18957.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068a0001c0002t0001g0045a0001c0002t0001g0048 | 3 | 128 | 0.0234 | -8 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115738126 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0024a0001c0003t0045others(2): Show | a0001c0001t0001g0125a0001c0001t0024g0024a0001c0003t0045g0090others(2): Show | 5 | 128 | 0.0391 | -8 | c.390 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115759841 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0013a0001c0001t0023others(2): Show | a0001c0001t0002g0015a0001c0001t0013g0019a0001c0001t0023g0022others(2): Show | 5 | 128 | 0.0391 | -8 | c.390 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115774425 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0012 | a0001c0001t0002a0001c0001t0013a0001c0005t0007others(3): Show | a0001c0001t0002g0015a0001c0001t0013g0019a0001c0005t0007g0009others(3): Show | 6 | 128 | 0.0469 | -8 | c.390 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0077a0001c0001t0003g0093a0001c0001t0007g0027others(3): Show | 6 | 128 | 0.0469 | -8 | c.390 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115871469 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0055a0001c0001t0001g0068a0001c0001t0001g0069others(48): Show | 51 | 128 | 0.3984 | -8 | c.401 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3492168 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | NA18955.hp1 NA18957.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0002g0012 | 3 | 220 | 0.0136 | -8 | c.410 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3573758 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(2): Show |
a0003 | a0003c0008a0003c0017a0003c0018 | a0003c0008t0005a0003c0008t0029a0003c0017t0021others(1): Show | a0003c0008t0005g0197a0003c0008t0005g0198a0003c0008t0029g0196others(2): Show | 5 | 220 | 0.0227 | -8 | c.209 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3587827 | CTGTTTGT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp1 others(8): Show |
a0001a0009 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0002a0001c0003t0031a0001c0003t0037others(4): Show | a0001c0003t0002g0214a0001c0003t0002g0215a0001c0003t0002g0216others(8): Show | 11 | 220 | 0.0500 | -8 | c.318 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0003a0001c0002t0008 | a0001c0001t0014g0010a0001c0002t0003g0023a0001c0002t0003g0078others(5): Show | 8 | 220 | 0.0364 | -8 | c.386 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3635363 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02572.hp2 others(8): Show |
a0001a0004 | a0001c0002a0001c0013a0004c0011 | a0001c0002t0008a0001c0013t0008a0001c0013t0026others(1): Show | a0001c0002t0008g0035a0001c0002t0008g0081a0001c0002t0008g0082others(8): Show | 11 | 220 | 0.0500 | -8 | c.394 others(26): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3639253 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0006a0001c0013others(6): Show | a0001c0002t0004a0001c0002t0017a0001c0006t0004others(8): Show | a0001c0002t0004g0030a0001c0002t0004g0055a0001c0002t0004g0091others(22): Show | 25 | 220 | 0.1136 | -8 | c.405 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77538230 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 218 | 0.0046 | -8 | c.670 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77556211 | AAGGGAGA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0102a0001c0001t0001g0198a0001c0001t0002g0107others(76): Show | 79 | 218 | 0.3624 | -8 | c.669 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77563702 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0001a0003c0006t0001 | a0002c0002t0001g0033a0003c0006t0001g0015 | 2 | 218 | 0.0092 | -8 | c.632 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03239.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0011 | a0001c0001t0004g0122a0001c0001t0006g0179a0001c0001t0011g0001 | 3 | 218 | 0.0138 | -8 | c.621 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01192.hp1 HG01261.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0092a0001c0001t0002g0144a0001c0001t0002g0158others(15): Show | 18 | 218 | 0.0826 | -8 | c.513 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77653014 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 218 | 0.0046 | -8 | c.431 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 14/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77659482 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01975.hp2 HG02015.hp1 others(16): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0195a0001c0001t0002g0158a0001c0001t0002g0178others(16): Show | 19 | 218 | 0.0872 | -8 | c.412 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 12/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77667295 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01256.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0116a0002c0002t0001g0017a0002c0002t0001g0022others(11): Show | 14 | 218 | 0.0642 | -8 | c.381 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77692846 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 218 | 0.0046 | -8 | c.484 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 6/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03225.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0001t0020a0001c0007t0005 | a0001c0001t0008g0006a0001c0001t0020g0180a0001c0007t0005g0079 | 3 | 218 | 0.0138 | -8 | c.133 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77734208 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0007a0001c0001t0011a0001c0001t0020others(3): Show | a0001c0001t0007g0066a0001c0001t0011g0001a0001c0001t0020g0180others(3): Show | 6 | 218 | 0.0275 | -8 | c.21- others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77735598 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01167.hp1 others(24): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0087a0001c0001t0001g0195a0001c0001t0002g0142others(24): Show | 27 | 218 | 0.1239 | -8 | c.21- others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77767236 | GGAGAGGG others(1): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0005 | a0001c0001t0003g0201a0001c0007t0005g0079 | 2 | 218 | 0.0092 | -8 | c.20+ others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77774882 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 218 | 0.0046 | -8 | c.20+ others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77778930 | CTTTTTTC others(1): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0180 | 1 | 218 | 0.0046 | -8 | c.20+ others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77786905 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0002c0002t0001others(9): Show | a0001c0001t0002g0131a0001c0001t0008g0077a0002c0002t0001g0010others(69): Show | 72 | 218 | 0.3303 | -8 | c.-91 others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790932 | GTGTATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 218 | 0.0046 | -8 | c.-49 others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4717 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142472085 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp1 others(45): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0019 | a0001c0001t0001a0002c0002t0001a0011c0019t0001 | a0001c0001t0001g0005a0001c0001t0001g0032a0001c0001t0001g0041others(45): Show | 48 | 322 | 0.1491 | -8 | c.622 others(27): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142483800 | TCCAGCCT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show |
a0001a0012 | a0001c0006a0012c0021 | a0001c0006t0001a0012c0021t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(14): Show | 17 | 322 | 0.0528 | -8 | c.622 others(27): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02622.hp2 HG02818.hp2 others(3): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0022a0002c0002t0001g0226a0002c0002t0001g0229others(3): Show | 6 | 322 | 0.0186 | -8 | c.589 others(23): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142497573 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01433.hp2 HG01891.hp1 others(4): Show |
a0001a0002a0008 | a0001c0004a0002c0002a0008c0012 | a0001c0004t0001a0002c0002t0001a0008c0012t0001 | a0001c0004t0001g0156a0001c0004t0001g0316a0001c0004t0001g0317others(4): Show | 7 | 322 | 0.0217 | -8 | c.555 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 32/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142558523 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp1 HG02280.hp1 others(17): Show |
a0001a0004 | a0001c0004a0004c0009 | a0001c0004t0001a0001c0004t0002a0004c0009t0001 | a0001c0004t0001g0025a0001c0004t0001g0147a0001c0004t0001g0149others(17): Show | 20 | 322 | 0.0621 | -8 | c.188 others(24): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 8/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142558553 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0004t0001g0157others(5): Show | 8 | 322 | 0.0248 | -8 | c.188 others(23): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 8/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142571465 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(129): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(10): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0048a0001c0001t0001g0085others(129): Show | 132 | 322 | 0.4099 | -8 | c.60- others(23): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45667946 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0067a0001c0001t0001g0090a0001c0001t0001g0091others(27): Show | 30 | 316 | 0.0949 | -8 | c.-41 others(19): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3887 | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45740679 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00735.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0072others(22): Show | 25 | 316 | 0.0791 | -8 | 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 | 45751755 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0159others(4): Show | 7 | 316 | 0.0222 | -8 | c.117 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45773445 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02300.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0304a0001c0001t0001g0305 | 3 | 316 | 0.0095 | -8 | c.117 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45827129 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0157a0001c0001t0001g0163a0001c0001t0001g0176others(15): Show | 18 | 316 | 0.0570 | -8 | c.123 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |