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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARRB2_chr17_4705632_4726497 | 4726175 | G | GGTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00738.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
13 | 430 | 0.0302 | 5 | c.*51 others(16): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 4679 | chr17 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601257 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 265 | 0.0113 | 5 | c.-44 others(16): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4428 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137601260 | T | TATATA | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA18952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0055 |
5 | 330 | 0.0152 | 5 | c.-44 others(16): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4425 | chr9 | TogoVar | |||||||
ARRDC1_chr9_137600686_137620360 | 137616205 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02602.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(3): Show |
9 | 218 | 0.0413 | 5 | c.*10 others(16): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 846 | chr9 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18003435 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0030 others(6): Show |
35 | 393 | 0.0891 | 5 | c.-48 others(16): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 4734 | chr19 | TogoVar | |||||||
ARRDC2_chr19_18003170_18019102 | 18011953 | T | TATATA | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01192.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(4): Show |
20 | 179 | 0.1117 | 5 | c.117 others(22): Show |
ARRDC2 | ENSG00000105643.11 | transcript | ENST00000222250.5 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
ARRDC4_chr15_97955703_97978833 | 97971538 | G | GTGTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(190): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0017others(12): Show | a0001c0001t0001a0001c0001t0030a0001c0001t0041others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(68): Show |
193 | 420 | 0.4595 | 5 | c.*35 others(14): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 8/8 | 354 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARRDC5_chr19_4885437_4907896 | 4885938 | A | AAATTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(218): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(204): Show |
221 | 410 | 0.5390 | 5 | c.*51 others(16): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4498 | chr19 | TogoVar | |||||||
ARRDC5_chr19_4885437_4907896 | 4899764 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(6): Show |
9 | 168 | 0.0536 | 5 | c.253 others(22): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78796879 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0025a0001c0001t0031others(3): Show | a0001c0001t0005g0040 a0001c0001t0005g0117 a0001c0001t0005g0168 others(5): Show |
8 | 264 | 0.0303 | 5 | c.121 others(26): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78935927 | T | TCCTCC | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002a0001c0003t0006others(5): Show | a0001c0001t0002g0091 a0001c0003t0002g0274 a0001c0003t0002g0349 others(10): Show |
13 | 358 | 0.0363 | 5 | c.898 others(24): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
ARSB_chr5_78772209_78990310 | 78962524 | A | ATTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01074.hp1 others(31): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0277 a0001c0001t0001g0321 a0001c0001t0001g0334 others(31): Show |
34 | 127 | 0.2677 | 5 | c.690 others(22): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 3/7 | chr5 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036775 | T | TATAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show |
107 | 186 | 0.5753 | 5 | c.-49 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4695 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036775 | T | TATATA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01168.hp1 HG01169.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0019a0004c0006 | a0001c0001t0001a0001c0019t0001a0004c0006t0001 | a0001c0001t0001g0160 a0001c0019t0001g0095 a0004c0006t0001g0008 others(1): Show |
4 | 83 | 0.0482 | 5 | c.-49 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4695 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036885 | A | AAATAT | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 others(3): Show |
6 | 190 | 0.0316 | 5 | c.-48 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4585 | chrX | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3036986 | T | TATAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0002t0001g0026 others(2): Show |
5 | 190 | 0.0263 | 5 | c.-47 others(16): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4484 | chrX | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68313681 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(141): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(26): Show | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0019 others(141): Show |
144 | 246 | 0.5854 | 5 | 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 | 68376276 | C | CGTTTT | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01433.hp1 others(11): Show |
a0001a0002a0004 | a0001c0003a0001c0005a0002c0002others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0005t0001others(4): Show | a0001c0003t0001g0050 a0001c0003t0001g0139 a0001c0003t0001g0262 others(11): Show |
14 | 191 | 0.0733 | 5 | c.982 others(22): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
ARSG_chr17_68286495_68425814 | 68388944 | A | AAAAAT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(4): Show |
a0001a0008 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(1): Show | a0001c0003t0001g0139 a0001c0005t0001g0166 a0001c0005t0001g0167 others(4): Show |
7 | 221 | 0.0317 | 5 | c.109 others(24): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68417733 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0076 a0001c0001t0001g0213 a0001c0001t0001g0215 others(20): Show |
23 | 61 | 0.3770 | 5 | c.130 others(24): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3021881 | T | TGTGTG | intron_variant | MODIFIER | HG00438.hp1 NA18940.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0120 others(1): Show |
4 | 18 | 0.2222 | 5 | c.902 others(22): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 5/8 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036775 | T | TATAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(148): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(123): Show |
151 | 239 | 0.6318 | 5 | c.*33 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2665 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036775 | T | TATATA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG01168.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0008 | a0001c0001t0001a0001c0013t0004a0005c0008t0004 | a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0001t0001g0152 others(2): Show |
6 | 94 | 0.0638 | 5 | c.*33 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2665 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036885 | A | AAATAT | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0176 a0001c0001t0001g0178 a0003c0005t0005g0021 others(1): Show |
5 | 245 | 0.0204 | 5 | c.*35 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2775 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3036986 | T | TATAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01168.hp1 others(2): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0002a0002c0006t0002 | a0002c0004t0002g0022 a0002c0004t0002g0192 a0002c0004t0002g0194 others(1): Show |
5 | 245 | 0.0204 | 5 | c.*36 others(16): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2876 | chrX | TogoVar | |||||||
ARSJ_chr4_113895284_113984647 | 113905660 | A | ATTTTT | intron_variant | MODIFIER | HG00673.hp2 HG01358.hp1 HG01934.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0142 others(7): Show |
10 | 99 | 0.1010 | 5 | c.399 others(22): Show |
ARSJ | ENSG00000180801.14 | transcript | ENST00000315366.8 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
ARSL_chrX_2929521_2969341 | 2957220 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01891.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0208 others(7): Show |
10 | 299 | 0.0334 | 5 | c.185 others(22): Show |
ARSL | ENSG00000157399.17 | transcript | ENST00000381134.9 | protein_coding | 3/10 | chrX | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3647324 | A | AAAAAC | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01106.hp2 others(2): Show |
a0003a0004a0009 | a0003c0003a0004c0005a0009c0012 | a0003c0003t0001a0004c0005t0003a0009c0012t0003 | a0003c0003t0001g0061 a0004c0005t0003g0062 a0004c0005t0003g0063 others(2): Show |
5 | 391 | 0.0128 | 5 | c.-53 others(22): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3661490 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG04184.hp1 NA18944.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(1): Show | a0001c0001t0001g0279 a0001c0001t0007g0074 a0002c0002t0001g0193 others(3): Show |
6 | 144 | 0.0417 | 5 | c.886 others(18): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663033 | A | ATCATC | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00642.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0083 others(18): Show |
22 | 342 | 0.0643 | 5 | c.887 others(22): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3663089 | A | ATCATC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(86): Show |
117 | 296 | 0.3953 | 5 | c.887 others(20): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76079176 | T | TAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG02809.hp2 HG03041.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0002g0118 a0001c0001t0002g0119 others(5): Show |
9 | 85 | 0.1059 | 5 | c.70- others(20): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ART3_chr4_76069709_76117786 | 76114071 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0126 a0001c0001t0001g0136 others(17): Show |
24 | 191 | 0.1257 | 5 | c.*15 others(16): Show |
ART3 | ENSG00000156219.18 | transcript | ENST00000355810.9 | protein_coding | 1286 | chr4 | TogoVar | |||||||
ARV1_chr1_230974094_231005733 | 230984257 | G | GAAAGA | intron_variant | MODIFIER | HG00639.hp1 HG01981.hp1 NA18975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0026 |
6 | 400 | 0.0150 | 5 | c.175 others(22): Show |
ARV1 | ENSG00000173409.14 | transcript | ENST00000310256.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67551001 | G | GTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02630.hp2 others(13): Show |
a0001a0002a0003others(7): Show | a0001c0009a0002c0010a0003c0021others(7): Show | a0001c0009t0004a0002c0010t0004a0002c0010t0008others(13): Show | a0001c0009t0004g0155 a0002c0010t0004g0154 a0002c0010t0008g0156 others(13): Show |
16 | 109 | 0.1468 | 5 | c.161 others(24): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102871546 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG01515.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0001g0181 a0001c0001t0008g0055 a0001c0001t0008g0056 others(10): Show |
13 | 41 | 0.3171 | 5 | c.171 others(20): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AS3MT_chr10_102864470_102906899 | 102871727 | C | CAAACA | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 NA18947.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0209 a0001c0002t0004g0045 a0001c0002t0004g0046 others(1): Show |
4 | 214 | 0.0187 | 5 | c.171 others(20): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ASAH1_chr8_18050992_18089107 | 18071244 | G | GAAATA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(100): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0013 a0002c0002t0001g0032 a0002c0002t0001g0133 others(59): Show |
103 | 418 | 0.2464 | 5 | c.216 others(18): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
ASAH1_chr8_18050992_18089107 | 18072505 | C | CAGAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show |
a0001a0006 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(121): Show |
176 | 418 | 0.4211 | 5 | c.126 others(22): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50180666 | A | ATTATG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(19): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(71): Show | a0001c0002t0002g0017 a0001c0002t0002g0092 a0001c0002t0002g0104 others(252): Show |
290 | 406 | 0.7143 | 5 | c.*66 others(16): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4194 | chr10 | TogoVar | |||||||
ASAH2_chr10_50179861_50256516 | 50187084 | C | CTCTCT | 3_prime_UTR_variant | MODIFIER | NA18957.hp1 NA18991.hp1 NA18994.hp2 |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0008a0003c0003t0028 | a0001c0002t0008g0105 a0001c0002t0008g0116 a0003c0003t0028g0136 |
3 | 321 | 0.0093 | 5 | c.*23 others(14): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 21/21 | 230 | chr10 | TogoVar | ||||||
ASAH2_chr10_50179861_50256516 | 50239828 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0002c0022others(2): Show | a0001c0005t0011a0002c0001t0001a0002c0001t0003others(13): Show | a0001c0005t0011g0186 a0002c0001t0001g0028 a0002c0001t0001g0029 others(73): Show |
87 | 167 | 0.5210 | 5 | c.510 others(22): Show |
ASAH2 | ENSG00000188611.17 | transcript | ENST00000682911.1 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130071003 | G | GAGAGA | intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0036 a0001c0001t0001g0201 a0001c0001t0001g0221 others(1): Show |
4 | 286 | 0.0140 | 5 | c.270 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 27/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130080478 | C | CTCTTT | intron_variant | MODIFIER | HG00099.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0008a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0008g0009 a0001c0001t0008g0015 a0001c0001t0008g0021 others(4): Show |
7 | 263 | 0.0266 | 5 | c.257 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130084808 | G | GGAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01243.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0034 others(31): Show |
34 | 306 | 0.1111 | 5 | c.257 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 25/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130093686 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 HG01255.hp2 others(39): Show |
a0001 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(39): Show |
42 | 288 | 0.1458 | 5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130097126 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01243.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0002g0229 a0002c0002t0001g0063 a0002c0002t0001g0068 others(11): Show |
14 | 44 | 0.3182 | 5 | c.240 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 24/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130121784 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00735.hp1 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0015others(2): Show | a0002c0002t0001g0061 a0002c0002t0001g0103 a0002c0002t0001g0137 others(23): Show |
26 | 95 | 0.2737 | 5 | c.160 others(24): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 18/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130153493 | C | CAGAGT | intron_variant | MODIFIER | HG01175.hp2 HG01943.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 others(1): Show |
4 | 306 | 0.0131 | 5 | c.101 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 12/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130215975 | A | AAAAGG | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01261.hp1 others(46): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0039 others(46): Show |
49 | 142 | 0.3451 | 5 | c.260 others(22): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 4/29 | chr8 | TogoVar |