view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARSB_chr5_78772209_78990310 | 78901047 | G | GAAA | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01243.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0023 a0001c0001t0001g0110 a0001c0001t0001g0334 others(26): Show |
29 | 75 | 0.3867 | 3 | c.899 others(22): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78905910 | C | CAAA | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0009others(2): Show | a0001c0003t0002a0001c0003t0035a0001c0005t0076others(3): Show | a0001c0003t0002g0354 a0001c0003t0035g0357 a0001c0005t0076g0264 others(3): Show |
6 | 114 | 0.0526 | 3 | c.899 others(22): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78911572 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01175.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0273 a0001c0001t0003g0113 a0001c0001t0003g0160 others(6): Show |
9 | 46 | 0.1957 | 3 | c.899 others(22): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78936129 | C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0005a0001c0003t0002a0001c0003t0008others(5): Show | a0001c0001t0005g0074 a0001c0003t0002g0266 a0001c0003t0008g0203 others(5): Show |
8 | 165 | 0.0485 | 3 | c.898 others(22): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78968315 | T | TTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0226 a0001c0001t0002g0038 a0001c0001t0002g0317 others(12): Show |
15 | 98 | 0.1531 | 3 | c.499 others(18): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2908535 | C | CTCT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02280.hp1 others(2): Show |
a0005a0008 | a0005c0008a0005c0019a0008c0020 | a0005c0008t0020a0005c0008t0026a0005c0019t0025others(1): Show | a0005c0008t0020g0006 a0005c0008t0026g0032 a0005c0019t0025g0210 others(1): Show |
5 | 261 | 0.0192 | 3 | c.142 others(20): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 9/9 | chrX | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2910316 | T | TTAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(159): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(46): Show | a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0046 others(140): Show |
162 | 342 | 0.4737 | 3 | c.113 others(20): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 7/9 | chrX | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2916131 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(145): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(131): Show |
148 | 201 | 0.7363 | 3 | c.864 others(18): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 5/9 | chrX | TogoVar | |||||||
ARSD_chrX_2898972_2934339 | 2919218 | G | GTCC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(256): Show |
290 | 342 | 0.8480 | 3 | c.440 others(18): Show |
ARSD | ENSG00000006756.16 | transcript | ENST00000381154.6 | protein_coding | 4/9 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036687 | A | ATTT | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03130.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0039 |
3 | 191 | 0.0157 | 3 | c.-50 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4783 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036777 | T | TAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0055 a0001c0001t0001g0061 others(7): Show |
10 | 182 | 0.0549 | 3 | c.-49 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4693 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036777 | T | TATA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0118 a0001c0001t0001g0168 a0001c0002t0001g0181 others(6): Show |
9 | 181 | 0.0497 | 3 | c.-49 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4693 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036823 | T | TAAA | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02698.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0132 others(1): Show |
4 | 191 | 0.0209 | 3 | c.-48 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4647 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036876 | A | ATAT | upstream_gene_variant | MODIFIER | HG02015.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0171 |
2 | 184 | 0.0109 | 3 | c.-48 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4594 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036892 | T | TAAA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 others(3): Show |
6 | 188 | 0.0319 | 3 | c.-48 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4578 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036901 | T | TAAA | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG01978.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0053 others(6): Show |
9 | 156 | 0.0577 | 3 | c.-47 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4569 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036901 | T | TATA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 others(3): Show |
6 | 153 | 0.0392 | 3 | c.-47 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4569 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036922 | T | TAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(33): Show |
36 | 191 | 0.1885 | 3 | c.-47 others(14): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4548 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3068765 | G | GATA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02257.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0012others(2): Show | a0001c0001t0001a0001c0007t0003a0001c0012t0001others(2): Show | a0001c0001t0001g0032 a0001c0007t0003g0031 a0001c0007t0003g0182 others(4): Show |
7 | 191 | 0.0366 | 3 | c.11+ others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3071291 | T | TTTG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(1): Show |
4 | 189 | 0.0212 | 3 | c.12- others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3079957 | T | TCAA | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0010t0001g0033 |
3 | 191 | 0.0157 | 3 | c.284 others(18): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68293492 | C | CTAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0169 a0001c0001t0001g0170 others(17): Show |
20 | 289 | 0.0692 | 3 | c.-55 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68324070 | C | CAAA | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01123.hp1 others(18): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0207 a0001c0001t0002g0081 others(18): Show |
21 | 190 | 0.1105 | 3 | c.218 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68333631 | A | AAAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00673.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0031 a0001c0001t0002g0067 a0001c0001t0002g0245 others(14): Show |
17 | 51 | 0.3333 | 3 | c.219 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68376276 | C | CGTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01168.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(9): Show | a0001c0001t0001g0169 a0001c0001t0002g0007 a0001c0005t0001g0166 others(14): Show |
17 | 194 | 0.0876 | 3 | c.982 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68379421 | A | ATTT | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00741.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0017 a0001c0001t0001g0053 a0001c0001t0001g0071 others(23): Show |
26 | 102 | 0.2549 | 3 | c.983 others(20): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68388944 | A | AAAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00621.hp2 others(34): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0003c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(6): Show | a0001c0001t0001g0159 a0001c0001t0002g0150 a0003c0004t0001g0051 others(34): Show |
37 | 251 | 0.1474 | 3 | c.109 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68390927 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(84): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(22): Show | a0001c0001t0001g0159 a0001c0001t0002g0150 a0001c0003t0001g0139 others(84): Show |
87 | 169 | 0.5148 | 3 | c.109 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68414661 | T | TTTG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(6): Show |
a0001a0004a0008 | a0001c0005a0001c0009a0001c0024others(3): Show | a0001c0005t0001a0001c0009t0001a0001c0024t0001others(3): Show | a0001c0005t0001g0166 a0001c0005t0001g0167 a0001c0005t0001g0168 others(6): Show |
9 | 297 | 0.0303 | 3 | c.130 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68416790 | T | TAGA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(83): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0027others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 others(83): Show |
86 | 302 | 0.2848 | 3 | c.130 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68417733 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00639.hp1 others(39): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 others(39): Show |
42 | 80 | 0.5250 | 3 | c.130 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3001576 | C | CAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(8): Show |
a0001a0003 | a0001c0002a0001c0007a0003c0005 | a0001c0002t0002a0001c0007t0002a0003c0005t0005 | a0001c0002t0002g0023 a0001c0002t0002g0204 a0001c0002t0002g0206 others(7): Show |
11 | 205 | 0.0537 | 3 | c.-50 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 4969 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3012540 | C | CAAA | intron_variant | MODIFIER | HG02165.hp1 HG02683.hp2 HG03669.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show |
6 | 209 | 0.0287 | 3 | c.215 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012568 | A | AAAT | intron_variant | MODIFIER | HG02257.hp1 HG03704.hp1 HG04115.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0051 others(2): Show |
5 | 142 | 0.0352 | 3 | c.215 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3012568 | A | ATAT | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp1 HG01358.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(9): Show |
12 | 149 | 0.0805 | 3 | c.215 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3012592 | T | TATA | intron_variant | MODIFIER | HG00408.hp1 HG01167.hp1 HG01257.hp2 others(19): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0006t0002others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(15): Show |
22 | 125 | 0.1760 | 3 | c.215 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3021930 | T | TGAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01884.hp2 others(3): Show |
a0001a0003a0005 | a0001c0007a0003c0016a0005c0008 | a0001c0007t0002a0003c0016t0004a0005c0008t0004 | a0001c0007t0002g0196 a0001c0007t0002g0197 a0001c0007t0002g0203 others(2): Show |
6 | 246 | 0.0244 | 3 | c.902 others(20): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3029149 | T | TTCC | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0002g0089 others(20): Show |
25 | 246 | 0.1016 | 3 | c.120 others(18): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036777 | T | TAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(9): Show |
14 | 236 | 0.0593 | 3 | c.*33 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2667 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036777 | T | TATA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0095 others(6): Show |
10 | 232 | 0.0431 | 3 | c.*33 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2667 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036823 | T | TAAA | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02698.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0054 others(2): Show |
5 | 246 | 0.0203 | 3 | c.*34 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2713 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036892 | T | TAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0176 a0001c0001t0001g0178 a0003c0005t0005g0021 others(1): Show |
5 | 242 | 0.0207 | 3 | c.*35 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2782 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036901 | T | TAAA | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG02004.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0041 others(8): Show |
13 | 205 | 0.0634 | 3 | c.*35 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2791 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036901 | T | TATA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0176 a0001c0001t0001g0178 a0003c0005t0005g0021 others(1): Show |
5 | 197 | 0.0254 | 3 | c.*35 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2791 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036922 | T | TAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(44): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(39): Show |
47 | 246 | 0.1911 | 3 | c.*35 others(14): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2812 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113905660 | A | ATTT | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00673.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(58): Show |
71 | 160 | 0.4438 | 3 | c.399 others(20): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113935068 | C | CTAA | intron_variant | MODIFIER | NA18950.hp1 NA18962.hp1 NA18978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0091 a0001c0001t0001g0107 |
5 | 348 | 0.0144 | 3 | c.399 others(22): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113955004 | C | CTTT | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0012g0061 others(5): Show |
8 | 293 | 0.0273 | 3 | c.398 others(22): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113972293 | G | GAAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00735.hp1 others(56): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(43): Show |
59 | 220 | 0.2682 | 3 | c.398 others(20): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSK_chr5_95550101_95610102 | 95576200 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01099.hp1 others(31): Show |
a0001a0004a0005 | a0001c0001a0001c0016a0004c0007others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0019 others(24): Show |
34 | 226 | 0.1504 | 3 | c.417 others(20): Show |
ARSK | ENSG00000164291.17 | transcript | ENST00000380009.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |