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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A3GALT2_chr1_33301766_33326098 | 33308750 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0035 others(3): Show |
7 | 206 | 0.0340 | 13 | c.336 others(30): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42696121 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 others(75): Show |
81 | 198 | 0.4091 | 13 | c.-18 others(30): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18946.hp1 NA18998.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0007a0001c0002t0005a0003c0004t0006 | a0001c0001t0007g0042 a0001c0002t0005g0116 a0003c0004t0006g0221 |
3 | 123 | 0.0244 | 13 | c.-18 others(34): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031 | 1 | 121 | 0.0083 | 13 | c.-18 others(34): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722222 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG01361.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0003a0001c0002t0015 | a0001c0001t0007g0051 a0001c0001t0007g0054 a0001c0001t0007g0067 others(4): Show |
7 | 330 | 0.0212 | 13 | c.-16 others(24): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1353 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0280 | 1 | 64 | 0.0156 | 13 | c.-16 others(24): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 17 | 0.0588 | 13 | c.767 others(28): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18906.hp1 |
a0001a0007 | a0001c0001a0007c0024 | a0001c0001t0002a0007c0024t0001 | a0001c0001t0002g0187 a0007c0024t0001g0261 |
2 | 172 | 0.0116 | 13 | c.916 others(30): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658094 | T | TCCTTCCT others(6): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 308 | 0.0032 | 13 | c.386 others(30): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056433 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 332 | 0.0030 | 13 | c.*44 others(24): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3788 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67253260 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 others(1): Show |
4 | 29 | 0.1379 | 13 | c.73+ others(28): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69488179 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0142 | a0001c0001t0142g0273 | 1 | 295 | 0.0034 | 13 | c.236 others(32): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69490928 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0257 | 1 | 296 | 0.0034 | 13 | c.236 others(32): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0002 | a0002c0002t0127 | a0002c0002t0127g0234 | 1 | 70 | 0.0143 | 13 | c.236 others(32): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGCGCC others(6): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0011 | a0001c0011t0075 | a0001c0011t0075g0285 | 1 | 29 | 0.0345 | 13 | c.-82 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77858302 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 197 | 0.0051 | 13 | c.133 others(32): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262996 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 a0001c0001t0002g0315 |
2 | 306 | 0.0065 | 13 | c.149 others(30): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70269322 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 HG03195.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0338 a0002c0004t0001g0347 a0002c0004t0001g0349 |
3 | 40 | 0.0750 | 13 | c.962 others(28): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272924 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 353 | 0.0028 | 13 | c.480 others(28): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275936 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02970.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0345 a0002c0004t0001g0347 a0002c0004t0001g0348 others(3): Show |
6 | 146 | 0.0411 | 13 | c.479 others(28): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 90 | 0.0111 | 13 | c.-42 others(24): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967515 | A | AATATATA others(6): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0119 | 1 | 65 | 0.0154 | 13 | c.-30 others(24): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3062 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967519 | T | TATATATT others(6): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 322 | 0.0031 | 13 | c.-30 others(24): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3066 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19030.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0290 a0003c0003t0002g0292 |
2 | 80 | 0.0250 | 13 | c.290 others(32): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 a0002c0002t0001g0147 |
2 | 94 | 0.0213 | 13 | c.-16 others(30): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141928 | C | CTTCCTTC others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 |
a0007a0020 | a0007c0008a0020c0053 | a0007c0008t0001a0020c0053t0002 | a0007c0008t0001g0225 a0020c0053t0002g0224 |
2 | 309 | 0.0065 | 13 | c.56- others(28): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGGAGA others(6): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0001 | 1 | 102 | 0.0098 | 13 | c.-41 others(32): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723828 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03704.hp1 HG03710.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0184 a0001c0003t0003g0345 a0002c0002t0002g0191 others(4): Show |
7 | 338 | 0.0207 | 13 | c.-41 others(32): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8754179 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0054 | 1 | 48 | 0.0208 | 13 | c.317 others(30): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146334 | A | AATATGGA others(6): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG02027.hp2 others(7): Show |
a0002a0003a0020others(1): Show | a0002c0002a0003c0003a0020c0019others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(2): Show | a0002c0002t0001g0011 a0002c0002t0001g0046 a0002c0002t0001g0078 others(7): Show |
10 | 346 | 0.0289 | 13 | c.*24 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1672 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210842 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0216 a0005c0005t0004g0217 |
2 | 322 | 0.0062 | 13 | c.100 others(32): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02074.hp1 HG02074.hp2 others(9): Show |
a0001a0020 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0001others(4): Show | a0001c0001t0002g0059 a0001c0001t0002g0116 a0001c0001t0002g0117 others(9): Show |
12 | 30 | 0.4000 | 13 | c.178 others(30): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02523.hp1 |
a0001a0042 | a0001c0001a0042c0112 | a0001c0001t0002a0042c0112t0011 | a0001c0001t0002g0066 a0042c0112t0011g0114 |
2 | 4 | 0.5000 | 13 | c.764 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401751 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0016 | a0016c0029 | a0016c0029t0004 | a0016c0029t0004g0071 | 1 | 176 | 0.0057 | 13 | c.118 others(34): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02809.hp2 HG02886.hp1 others(3): Show |
a0001a0004a0007others(3): Show | a0001c0001a0004c0008a0007c0011others(3): Show | a0001c0001t0006a0004c0008t0005a0007c0011t0007others(3): Show | a0001c0001t0006g0178 a0004c0008t0005g0168 a0007c0011t0007g0165 others(3): Show |
6 | 58 | 0.1034 | 13 | c.148 others(34): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104865515 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0017 | a0017c0079 | a0017c0079t0004 | a0017c0079t0004g0313 | 1 | 284 | 0.0035 | 13 | c.422 others(30): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 21 | 0.0476 | 13 | c.421 others(29): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0322 | 1 | 20 | 0.0500 | 13 | c.259 others(30): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG04204.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0094 a0001c0008t0001g0048 |
2 | 156 | 0.0128 | 13 | c.931 others(28): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01928.hp1 HG03225.hp1 others(1): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0006c0010t0001 | a0002c0002t0002g0237 a0006c0010t0001g0255 a0006c0010t0001g0256 others(1): Show |
4 | 46 | 0.0870 | 13 | c.274 others(30): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19078.hp1 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 |
3 | 17 | 0.1765 | 13 | c.461 others(28): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146334 | A | AATATGGA others(6): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0029 | a0001c0001t0001a0002c0002t0002a0015c0029t0001 | a0001c0001t0001g0076 a0001c0001t0001g0161 a0001c0001t0001g0179 others(4): Show |
7 | 324 | 0.0216 | 13 | c.-46 others(24): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4440 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118 | 1 | 113 | 0.0088 | 13 | c.518 others(30): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87589836 | G | GAGAGAGA others(6): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 327 | 0.0031 | 13 | c.118 others(30): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20683085 | T | TTAATAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02615.hp2 others(8): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0012a0002c0041others(8): Show | a0001c0001t0001a0002c0012t0001a0002c0041t0001others(8): Show | a0001c0001t0001g0344 a0002c0012t0001g0123 a0002c0041t0001g0122 others(8): Show |
11 | 358 | 0.0307 | 13 | c.186 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 15/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01243.hp1 others(9): Show |
a0001a0002a0007others(7): Show | a0001c0001a0002c0003a0007c0011others(7): Show | a0001c0001t0001a0002c0003t0003a0007c0011t0004others(7): Show | a0001c0001t0001g0223 a0002c0003t0003g0018 a0007c0011t0004g0060 others(9): Show |
12 | 54 | 0.2222 | 13 | c.233 others(30): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20712158 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 NA21309.hp2 |
a0022a0024 | a0022c0029a0024c0046 | a0022c0029t0001a0024c0046t0001 | a0022c0029t0001g0271 a0024c0046t0001g0091 |
2 | 135 | 0.0148 | 13 | c.242 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20720535 | T | TAAGATTC others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(247): Show |
a0001a0002a0003others(47): Show | a0001c0001a0001c0005a0001c0064others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(102): Show | a0001c0001t0001g0001 a0001c0001t0001g0056 a0001c0001t0001g0137 others(245): Show |
250 | 358 | 0.6983 | 13 | c.242 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75047101 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0015 | 1 | 223 | 0.0045 | 13 | c.*62 others(24): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3946 | chrX | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0169 a0001c0001t0001g0171 others(6): Show |
9 | 30 | 0.3000 | 13 | c.334 others(30): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar |