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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC5_chr3_183914934_184022884 | 183926142 | G | GTTT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(82): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(5): Show | a0001c0001t0001g0145a0001c0001t0001g0175a0001c0002t0001g0001others(78): Show | 85 | 378 | 0.2249 | 3 | c.404 others(20): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 28/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183940462 | G | GAAA | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0164a0001c0001t0006g0027a0001c0001t0006g0055others(8): Show | 11 | 378 | 0.0291 | 3 | c.369 others(22): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183940848 | G | GTTA | intron_variant | MODIFIER | HG00597.hp1 HG02055.hp1 HG02683.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0145a0001c0001t0001g0148a0001c0001t0001g0149others(13): Show | 16 | 378 | 0.0423 | 3 | c.369 others(22): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 25/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183968129 | T | TATC | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0013a0001c0023others(3): Show | a0001c0002t0001a0001c0013t0003a0001c0023t0001others(3): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0004others(60): Show | 67 | 378 | 0.1773 | 3 | c.176 others(20): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 184010798 | C | CTTT | intron_variant | MODIFIER | HG02074.hp2 HG02818.hp2 NA18951.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0002t0001 | a0001c0001t0005g0018a0001c0001t0005g0020a0001c0001t0005g0143others(8): Show | 11 | 378 | 0.0291 | 3 | c.129 others(20): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149351 | C | CAAA | downstream_gene_variant | MODIFIER | HG01358.hp1 HG02602.hp1 HG02602.hp2 others(8): Show |
a0001a0006a0021 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0089a0001c0001t0002g0094a0001c0001t0002g0204others(8): Show | 11 | 357 | 0.0308 | 3 | c.*78 others(12): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 213 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149370 | A | AAAT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01175.hp1 others(37): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(12): Show | a0001c0001t0001g0086a0001c0001t0001g0126a0001c0001t0001g0179others(37): Show | 40 | 357 | 0.1120 | 3 | c.*76 others(12): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 194 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149414 | A | AGAG | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02809.hp2 others(3): Show |
a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0058a0008c0011t0003g0059a0008c0011t0003g0060others(3): Show | 6 | 357 | 0.0168 | 3 | c.*71 others(12): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 150 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16152192 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01106.hp1 others(26): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(9): Show | a0001c0001t0001g0201a0001c0001t0001g0202a0001c0001t0002g0030others(26): Show | 29 | 357 | 0.0812 | 3 | c.420 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 29/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16156942 | C | CAAA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG02738.hp2 others(11): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0010a0001c0002t0001g0023a0001c0002t0001g0085others(11): Show | 14 | 357 | 0.0392 | 3 | c.388 others(20): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 27/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16160628 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0017a0001c0001t0001g0108a0001c0001t0001g0169others(35): Show | 38 | 357 | 0.1064 | 3 | c.363 others(20): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 25/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16166008 | T | TCTC | intron_variant | MODIFIER | NA18952.hp2 NA19056.hp1 NA19060.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0276a0001c0006t0001g0290a0001c0006t0001g0292 | 3 | 357 | 0.0084 | 3 | c.299 others(18): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 22/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16170095 | T | TTTC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(338): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0002a0001c0004others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(84): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0020others(337): Show | 341 | 357 | 0.9552 | 3 | c.278 others(20): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16173697 | T | TTTC | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01169.hp2 others(5): Show |
a0001a0036 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0128a0001c0001t0001g0229others(5): Show | 8 | 357 | 0.0224 | 3 | c.266 others(20): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCC | intron_variant | MODIFIER | HG01496.hp2 HG02809.hp2 HG02922.hp1 |
a0008a0011 | a0008c0011a0011c0016 | a0008c0011t0003a0011c0016t0006 | a0008c0011t0003g0058a0008c0011t0003g0060a0011c0016t0006g0271 | 3 | 357 | 0.0084 | 3 | c.266 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16174761 | C | CCCG | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00735.hp1 others(26): Show |
a0001a0004a0018others(1): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(8): Show | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0201others(26): Show | 29 | 357 | 0.0812 | 3 | c.266 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16188225 | C | CAAA | intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001a0014 | a0001c0001a0001c0004a0001c0072others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0072t0001others(1): Show | a0001c0001t0001g0273a0001c0001t0001g0341a0001c0004t0001g0065others(5): Show | 8 | 357 | 0.0224 | 3 | c.177 others(20): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 13/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17399297 | A | AAAC | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01255.hp2 others(8): Show |
a0001 | a0001c0006a0001c0009a0001c0019others(3): Show | a0001c0006t0001a0001c0009t0001a0001c0019t0001others(3): Show | a0001c0006t0001g0097a0001c0009t0001g0289a0001c0019t0001g0121others(8): Show | 11 | 330 | 0.0333 | 3 | c.365 others(20): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 29/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17423356 | C | CAAA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02886.hp1 others(8): Show |
a0001a0008a0009 | a0001c0004a0001c0006a0001c0010others(7): Show | a0001c0004t0001a0001c0006t0001a0001c0010t0001others(7): Show | a0001c0004t0001g0293a0001c0006t0001g0107a0001c0010t0001g0298others(8): Show | 11 | 330 | 0.0333 | 3 | c.222 others(22): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 16/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17424226 | A | ATCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(154): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0004others(40): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(42): Show | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0001g0137others(153): Show | 157 | 330 | 0.4758 | 3 | c.222 others(22): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 16/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17437091 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG00741.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0076a0001c0003t0001g0088a0001c0003t0001g0100others(9): Show | 12 | 330 | 0.0364 | 3 | c.163 others(22): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17468013 | C | CTGA | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp1 HG03209.hp2 others(1): Show |
a0001a0003 | a0001c0017a0003c0063 | a0001c0017t0001a0003c0063t0001 | a0001c0017t0001g0003a0001c0017t0001g0051a0003c0063t0001g0052 | 4 | 330 | 0.0121 | 3 | c.412 others(20): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17468013 | C | CTGG | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(172): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(60): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(66): Show | a0001c0001t0001g0076a0001c0001t0001g0173a0001c0003t0001g0030others(169): Show | 175 | 330 | 0.5303 | 3 | c.412 others(20): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17477322 | T | TGTG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(124): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(39): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(40): Show | a0001c0001t0001g0173a0001c0001t0001g0180a0001c0001t0001g0207others(122): Show | 127 | 330 | 0.3849 | 3 | c.-54 others(12): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 478 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | G | GTTT | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0069others(2): Show | 5 | 212 | 0.0236 | 3 | c.389 others(20): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21853460 | C | CTAT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02257.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0001a0001c0002t0001a0003c0012t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(7): Show | 10 | 212 | 0.0472 | 3 | c.250 others(20): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 22/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21893194 | T | TATC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(208): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(207): Show | 211 | 212 | 0.9953 | 3 | c.180 others(20): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 14/39 | chr12 | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720843 | G | GCTC | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | 3 | c.-44 others(14): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 4012 | chrX | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39547939 | T | TGTA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(159): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0002a0001c0001t0002g0019a0001c0001t0002g0021others(128): Show | 162 | 340 | 0.4765 | 3 | c.*59 others(14): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2093 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39561233 | T | TAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(115): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0002g0002others(93): Show | 118 | 340 | 0.3471 | 3 | c.200 others(22): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39594348 | T | TATA | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016a0001c0001t0004g0134 | 3 | 340 | 0.0088 | 3 | c.164 others(22): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 6/9 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39621087 | C | CTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0109others(21): Show | 26 | 340 | 0.0765 | 3 | c.-14 others(14): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 1285 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94418421 | A | AGCC | 5_prime_UTR_variant | MODIFIER | HG02015.hp1 HG02148.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019a0001c0001t0020others(3): Show | a0001c0001t0018g0180a0001c0001t0019g0018a0001c0001t0020g0185others(3): Show | 6 | 362 | 0.0166 | 3 | c.-37 others(10): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/23 | 34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CAAA | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp2 others(13): Show |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0005a0003c0003t0008a0003c0003t0014others(3): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(8): Show | 16 | 384 | 0.0417 | 3 | c.*58 others(14): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74281616 | C | CAGT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02258.hp1 others(13): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0008a0003c0003t0009a0003c0003t0011others(8): Show | a0003c0003t0008g0103a0003c0003t0008g0125a0003c0003t0008g0127others(12): Show | 16 | 384 | 0.0417 | 3 | c.*48 others(14): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3652 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74290683 | C | CTTT | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02486.hp2 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0008a0003c0003t0009others(2): Show | a0002c0002t0001g0057a0002c0002t0001g0069a0003c0003t0008g0125others(3): Show | 6 | 384 | 0.0156 | 3 | c.111 others(20): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 11/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74294515 | A | AGGT | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(11): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(18): Show | 27 | 384 | 0.0703 | 3 | c.719 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 7/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74296000 | G | GAGA | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01243.hp2 others(24): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0009others(11): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0005g0132others(18): Show | 27 | 384 | 0.0703 | 3 | c.543 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 5/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74301160 | C | CTTT | intron_variant | MODIFIER | HG01496.hp1 HG01978.hp2 HG02056.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013a0002c0002t0001g0026a0002c0002t0001g0053others(3): Show | 9 | 384 | 0.0234 | 3 | c.39- others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 1/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74303843 | A | ATTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01070.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0003a0002c0009t0012 | a0001c0001t0003g0007a0001c0001t0003g0034a0001c0001t0003g0050others(3): Show | 12 | 384 | 0.0313 | 3 | c.-93 others(12): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 910 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74307137 | C | CTTT | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01978.hp2 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0001 | a0001c0008t0001g0140a0002c0002t0001g0003a0002c0002t0001g0014others(7): Show | 13 | 384 | 0.0339 | 3 | c.-42 others(14): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4204 | chr14 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTT | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00639.hp2 others(50): Show |
a0001a0006a0009 | a0001c0001a0006c0014a0009c0010 | a0001c0001t0001a0006c0014t0001a0009c0010t0001 | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0016others(32): Show | 53 | 415 | 0.1277 | 3 | c.74- others(18): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30593543 | A | ATAT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG02258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0023others(8): Show | 13 | 415 | 0.0313 | 3 | c.*28 others(14): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2022 | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30593544 | T | TATA | downstream_gene_variant | MODIFIER | HG03041.hp1 HG03654.hp2 NA19068.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0155others(2): Show | 5 | 415 | 0.0121 | 3 | c.*28 others(14): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2023 | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30595488 | C | CAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0229a0001c0002t0002g0231a0001c0002t0002g0234others(3): Show | 6 | 415 | 0.0145 | 3 | c.*47 others(14): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 3967 | chr6 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151221202 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01175.hp1 others(18): Show |
a0001 | a0001c0005a0001c0006a0001c0010others(1): Show | a0001c0005t0005a0001c0005t0023a0001c0005t0024others(5): Show | a0001c0005t0005g0008a0001c0005t0005g0044a0001c0005t0005g0046others(8): Show | 21 | 390 | 0.0539 | 3 | c.921 others(18): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 7/14 | chr7 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151227264 | G | GCGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0016others(57): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(122): Show | 389 | 390 | 0.9974 | 3 | c.-14 others(12): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 60 | chr7 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TGTG | downstream_gene_variant | MODIFIER | HG01258.hp1 HG03669.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0002g0006a0001c0002t0001g0002 | 3 | 416 | 0.0072 | 3 | c.*41 others(14): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184198067 | G | GTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(30): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0007c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(2): Show | 33 | 416 | 0.0793 | 3 | c.*43 others(14): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 4063 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42241977 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(85): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0089others(83): Show | 88 | 354 | 0.2486 | 3 | c.286 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |