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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79376172 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0004a0001c0037 | a0001c0004t0003a0001c0037t0003 | a0001c0004t0003g0101a0001c0004t0003g0102a0001c0004t0003g0103others(1): Show | 4 | 298 | 0.0134 | -10 | c.330 others(27): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF1_chr1_46627737_46673364 | 46628444 | AAGACAAG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 412 | 0.0024 | -10 | c.*73 others(21): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4292 | chr1 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18017171 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0209 | 1 | 328 | 0.0031 | -10 | c.*13 others(21): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 849 | chr17 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18043467 | CAGGTTAG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 328 | 0.0031 | -10 | c.-44 others(21): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 4300 | chr17 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249897 | TAAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0016 | 1 | 358 | 0.0028 | -10 | c.-34 others(17): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 10 | chr5 | TogoVar | ||||||
ATPSCKMT_chr5_10220507_10254888 | 10249925 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01071.hp1 others(18): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(6): Show | a0001c0002t0002g0014a0001c0002t0003g0030a0001c0002t0004g0131others(17): Show | 21 | 358 | 0.0587 | -10 | c.-62 others(17): Show |
ATPSCKMT | ENSG00000150756.14 | transcript | ENST00000511437.6 | protein_coding | 38 | chr5 | TogoVar | ||||||
ATRAID_chr2_27207041_27222157 | 27221753 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19009.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 302 | 0.0066 | -10 | c.*48 others(21): Show |
ATRAID | ENSG00000138085.18 | transcript | ENST00000380171.9 | protein_coding | 4597 | chr2 | TogoVar | ||||||
ATRIP_chr3_48441737_48472645 | 48452794 | TAACCAAA others(3): Show |
T | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 360 | 0.0028 | -10 | c.552 others(25): Show |
ATRIP | ENSG00000164053.22 | transcript | ENST00000320211.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115098453 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0001t0016a0001c0001t0017others(1): Show | a0001c0001t0008g0030a0001c0001t0016g0031a0001c0001t0017g0028others(1): Show | 4 | 128 | 0.0313 | -10 | c.293 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115203577 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001a0001c0011a0001c0015 | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(4): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(7): Show | 10 | 128 | 0.0781 | -10 | c.134 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230870 | TGAGAGAG others(3): Show |
T | intron_variant | MODIFIER | HG01071.hp2 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0002c0014t0009 | a0001c0001t0001g0070a0002c0014t0009g0072 | 2 | 128 | 0.0156 | -10 | c.153 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115230913 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02895.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0020a0002c0004t0012 | a0001c0001t0020g0115a0002c0004t0012g0025 | 2 | 128 | 0.0156 | -10 | c.153 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115323402 | TCCCTCCC others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(5): Show | 8 | 128 | 0.0625 | -10 | c.303 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115342405 | CCCATTAT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0008 | a0002c0008t0044 | a0002c0008t0044g0063 | 1 | 128 | 0.0078 | -10 | c.317 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115351742 | GTGTTTTG others(3): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 128 | 0.0078 | -10 | c.317 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389540 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 NA18994.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0023 | a0001c0001t0001g0055a0001c0001t0001g0125a0001c0001t0006g0109others(1): Show | 4 | 128 | 0.0313 | -10 | c.317 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115407985 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0022g0032 | 3 | 128 | 0.0234 | -10 | c.326 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115445506 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0019a0001c0001t0024 | a0001c0001t0010g0018a0001c0001t0019g0020a0001c0001t0024g0024 | 3 | 128 | 0.0234 | -10 | c.332 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115459552 | AATAAATT others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0060 | 1 | 128 | 0.0078 | -10 | c.332 others(29): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115577610 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0031 | a0001c0003t0003g0060a0001c0003t0031g0016 | 2 | 128 | 0.0156 | -10 | c.379 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115584175 | GCATCAAT others(3): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0005 | a0001c0005t0021 | a0001c0005t0021g0007 | 1 | 128 | 0.0078 | -10 | c.379 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115615266 | TTTAAATA others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0090 | 1 | 128 | 0.0078 | -10 | c.379 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621305 | AGAGAGAG others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 128 | 0.0078 | -10 | c.379 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115630827 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01952.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0036a0001c0001t0001g0065a0001c0001t0001g0068others(8): Show | 11 | 128 | 0.0859 | -10 | c.379 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115713443 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0031 | 1 | 128 | 0.0078 | -10 | c.379 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115740845 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 128 | 0.0078 | -10 | c.390 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115802021 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02132.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120a0001c0001t0002g0080a0001c0001t0002g0123 | 3 | 128 | 0.0234 | -10 | c.390 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115815415 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0047 | a0001c0003t0047g0128 | 1 | 128 | 0.0078 | -10 | c.390 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115828322 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02145.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0020 | a0001c0001t0002g0015a0001c0001t0013g0019a0001c0001t0020g0115 | 3 | 128 | 0.0234 | -10 | c.390 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0086 | 1 | 128 | 0.0078 | -10 | c.390 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115868822 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0036others(1): Show | a0001c0001t0001g0085a0001c0001t0002g0111a0001c0001t0036g0117others(1): Show | 4 | 128 | 0.0313 | -10 | c.401 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115871469 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0010a0001c0001t0043a0001c0003t0003others(2): Show | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0043g0094others(3): Show | 6 | 128 | 0.0469 | -10 | c.401 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115887287 | CTATTACA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0007a0001c0003t0003a0001c0003t0039others(1): Show | a0001c0001t0007g0027a0001c0003t0003g0060a0001c0003t0039g0126others(1): Show | 4 | 128 | 0.0313 | -10 | c.401 others(31): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115953633 | CTCTAAAC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01123.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(27): Show | 30 | 128 | 0.2344 | -10 | c.*88 others(21): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 4635 | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3480352 | AGGCCATA others(3): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0035 | 1 | 220 | 0.0046 | -10 | c.410 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3485610 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03516.hp1 HG03710.hp1 HG03710.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0003 | a0001c0001t0001g0016a0001c0001t0001g0125a0001c0001t0012g0133others(1): Show | 4 | 220 | 0.0182 | -10 | c.410 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3493122 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(14): Show |
a0001a0010 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0005a0001c0003t0007a0001c0005t0007others(5): Show | a0001c0003t0005g0178a0001c0003t0005g0190a0001c0003t0007g0179others(14): Show | 17 | 220 | 0.0773 | -10 | c.410 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3535588 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18985.hp1 NA19075.hp1 others(1): Show |
a0001a0017 | a0001c0007a0017c0032 | a0001c0007t0006a0017c0032t0001 | a0001c0007t0006g0201a0001c0007t0006g0202a0001c0007t0006g0203others(1): Show | 4 | 220 | 0.0182 | -10 | c.494 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3554990 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0215 | 1 | 220 | 0.0046 | -10 | c.111 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3565796 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0194 | 1 | 220 | 0.0046 | -10 | c.187 others(27): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3586887 | CATCCTTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0194 | 1 | 220 | 0.0046 | -10 | c.318 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3620219 | AGTTTTGT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02451.hp2 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0006a0001c0013others(6): Show | a0001c0002t0004a0001c0002t0017a0001c0006t0004others(8): Show | a0001c0002t0004g0055a0001c0002t0004g0097a0001c0002t0004g0134others(17): Show | 20 | 220 | 0.0909 | -10 | c.380 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03130.hp1 NA18522.hp1 |
a0002a0015 | a0002c0004a0015c0021 | a0002c0004t0011a0015c0021t0034 | a0002c0004t0011g0150a0002c0004t0011g0151a0015c0021t0034g0204 | 3 | 220 | 0.0136 | -10 | c.386 others(29): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77506897 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0180 | 1 | 218 | 0.0046 | -10 | c.*14 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 35/35 | 1444 | chrX | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77585583 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01975.hp2 HG02015.hp1 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0158a0001c0001t0002g0178a0001c0001t0003g0085others(22): Show | 25 | 218 | 0.1147 | -10 | c.621 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02080.hp1 HG02145.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0198a0001c0001t0002g0123a0001c0001t0002g0130others(16): Show | 19 | 218 | 0.0872 | -10 | c.513 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 218 | 0.0046 | -10 | c.455 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77659482 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG04204.hp1 NA19030.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0138a0001c0001t0004g0218a0001c0001t0007g0066 | 3 | 218 | 0.0138 | -10 | c.412 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 12/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77667295 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 218 | 0.0046 | -10 | c.381 others(29): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0001 | a0001c0001t0008g0005a0001c0003t0001g0080 | 2 | 218 | 0.0092 | -10 | c.133 others(27): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar |