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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95124562 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0042a0001c0047a0002c0020others(1): Show | a0001c0042t0004a0001c0047t0006a0002c0020t0004others(1): Show | a0001c0042t0004g0040a0001c0047t0006g0120a0002c0020t0004g0016others(3): Show | 6 | 248 | 0.0242 | -8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95126720 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01346.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0005g0044a0001c0002t0001g0174a0001c0002t0002g0165others(11): Show | 14 | 248 | 0.0565 | -8 | c.245 others(29): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95144230 | CTGAGGGG others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp1 others(62): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(39): Show | a0001c0001t0001g0163a0001c0001t0001g0169a0001c0001t0001g0171others(62): Show | 65 | 248 | 0.2621 | -8 | c.245 others(29): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95148591 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03209.hp1 |
a0001a0002 | a0001c0003a0001c0046a0002c0064 | a0001c0003t0001a0001c0046t0001a0002c0064t0006 | a0001c0003t0001g0020a0001c0046t0001g0078a0002c0064t0006g0045 | 3 | 248 | 0.0121 | -8 | c.245 others(29): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95157123 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01346.hp1 others(1): Show |
a0001a0007 | a0001c0010a0007c0043a0007c0069others(1): Show | a0001c0010t0007a0007c0043t0009a0007c0069t0009others(1): Show | a0001c0010t0007g0143a0007c0043t0009g0097a0007c0069t0009g0043others(1): Show | 4 | 248 | 0.0161 | -8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95159093 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02080.hp2 HG02129.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0002others(11): Show | a0001c0001t0001g0169a0001c0001t0001g0171a0001c0001t0001g0206others(14): Show | 17 | 248 | 0.0686 | -8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95164054 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00642.hp1 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(9): Show | a0001c0001t0001g0169a0001c0001t0001g0171a0001c0001t0008g0246others(11): Show | 14 | 248 | 0.0565 | -8 | c.217 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 16/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95176223 | CAGGGGGG others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0009a0001c0025a0001c0045others(1): Show | a0001c0009t0001a0001c0025t0002a0001c0045t0001others(1): Show | a0001c0009t0001g0128a0001c0025t0002g0075a0001c0045t0001g0129others(1): Show | 4 | 248 | 0.0161 | -8 | c.172 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 13/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03540.hp2 HG04204.hp1 others(3): Show |
a0001a0003 | a0001c0003a0001c0007a0001c0010others(3): Show | a0001c0003t0001a0001c0007t0002a0001c0010t0007others(3): Show | a0001c0003t0001g0098a0001c0007t0002g0227a0001c0010t0007g0167others(3): Show | 6 | 248 | 0.0242 | -8 | c.116 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95208608 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0022a0001c0049others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0022t0011others(2): Show | a0001c0001t0001g0126a0001c0001t0001g0171a0001c0001t0001g0198others(5): Show | 8 | 248 | 0.0323 | -8 | c.786 others(23): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 6/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95218927 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02976.hp2 HG03017.hp1 |
a0001a0004a0010 | a0001c0023a0004c0030a0010c0034 | a0001c0023t0006a0004c0030t0002a0010c0034t0001 | a0001c0023t0006g0008a0004c0030t0002g0069a0010c0034t0001g0001 | 3 | 248 | 0.0121 | -8 | c.532 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95225147 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(13): Show |
a0001a0003a0006 | a0001c0002a0001c0013a0001c0022others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0018others(8): Show | a0001c0002t0001g0174a0001c0002t0001g0177a0001c0002t0001g0181others(13): Show | 16 | 248 | 0.0645 | -8 | c.531 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95225153 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0003a0001c0007a0001c0010others(3): Show | a0001c0003t0005a0001c0007t0019a0001c0010t0024others(3): Show | a0001c0003t0005g0019a0001c0007t0019g0026a0001c0010t0024g0024others(3): Show | 6 | 248 | 0.0242 | -8 | c.531 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95225757 | CAAATATA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0126a0001c0001t0001g0171a0001c0001t0001g0173others(6): Show | 9 | 248 | 0.0363 | -8 | c.531 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95240531 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(23): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(14): Show | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0103others(23): Show | 26 | 248 | 0.1048 | -8 | c.307 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244596 | TGAAAGAA others(1): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02280.hp2 HG02615.hp1 others(5): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0007a0001c0014others(4): Show | a0001c0001t0001a0001c0007t0002a0001c0014t0007others(5): Show | a0001c0001t0001g0103a0001c0007t0002g0185a0001c0014t0007g0191others(5): Show | 8 | 248 | 0.0323 | -8 | c.306 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95269434 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02970.hp2 others(4): Show |
a0001a0011 | a0001c0001a0001c0012a0001c0021others(3): Show | a0001c0001t0005a0001c0012t0001a0001c0021t0001others(3): Show | a0001c0001t0005g0044a0001c0012t0001g0081a0001c0021t0001g0009others(4): Show | 7 | 248 | 0.0282 | -8 | c.75- others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95296135 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0040a0001c0042a0001c0068others(1): Show | a0001c0040t0003a0001c0042t0004a0001c0068t0003others(1): Show | a0001c0040t0003g0124a0001c0042t0004g0040a0001c0068t0003g0007others(1): Show | 4 | 248 | 0.0161 | -8 | c.74+ others(23): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95296177 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(29): Show | a0001c0001t0001g0187a0001c0001t0001g0189a0001c0001t0001g0220others(40): Show | 43 | 248 | 0.1734 | -8 | c.74+ others(23): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95302342 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01346.hp2 HG01361.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0049a0001c0051others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0049t0003others(6): Show | a0001c0001t0001g0064a0001c0001t0002g0066a0001c0049t0003g0067others(6): Show | 9 | 248 | 0.0363 | -8 | c.-10 others(19): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 892 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 183922035 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG03130.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0005a0001c0016 | a0001c0001t0003a0001c0005t0002a0001c0016t0014 | a0001c0001t0003g0228a0001c0005t0002g0057a0001c0016t0014g0265 | 3 | 378 | 0.0079 | -8 | c.421 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 29/29 | chr3 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 184012014 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00639.hp1 others(91): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0005a0001c0002t0001a0001c0004t0002others(7): Show | a0001c0001t0005g0094a0001c0002t0001g0001a0001c0002t0001g0003others(87): Show | 94 | 378 | 0.2487 | -8 | c.129 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450260 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0074a0001c0001t0001g0235a0001c0001t0001g0249others(10): Show | 13 | 330 | 0.0394 | -8 | c.117 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450395 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00621.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(20): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(21): Show | a0001c0001t0001g0076a0001c0001t0001g0173a0001c0003t0001g0030others(67): Show | 70 | 330 | 0.2121 | -8 | c.117 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0047others(14): Show | 17 | 212 | 0.0802 | -8 | c.389 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21827527 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0200a0001c0001t0002g0202others(2): Show | 5 | 212 | 0.0236 | -8 | c.366 others(27): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCCTT others(1): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03041.hp2 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0014 | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0138others(2): Show | 5 | 212 | 0.0236 | -8 | c.347 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21847687 | ATTCTAAT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(116): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(116): Show | 119 | 212 | 0.5613 | -8 | c.286 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 25/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21896092 | TTTTTTTA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0017a0001c0001t0001g0079a0001c0001t0001g0130others(3): Show | 6 | 212 | 0.0283 | -8 | c.161 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 12/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915225 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00639.hp1 others(24): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0026others(24): Show | 27 | 212 | 0.1274 | -8 | c.816 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153720868 | TCACCGAT others(1): Show |
T | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 285 | 0.0035 | -8 | c.-43 others(19): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 3987 | chrX | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39602127 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp1 others(71): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0067a0001c0001t0001g0068others(54): Show | 74 | 340 | 0.2177 | -8 | c.150 others(27): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 5/9 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438293 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02559.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0002 | a0001c0001t0001g0262a0001c0001t0001g0350a0001c0001t0018g0180others(1): Show | 4 | 362 | 0.0111 | -8 | c.110 others(27): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438301 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0007a0001c0001t0004g0324a0001c0001t0006g0202others(6): Show | 10 | 362 | 0.0276 | -8 | c.110 others(27): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94477227 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0004t0016 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0088others(3): Show | 6 | 362 | 0.0166 | -8 | c.628 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74289111 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02630.hp1 HG02738.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0009 | a0001c0004t0001a0002c0002t0001a0002c0009t0012 | a0001c0004t0001g0090a0001c0004t0001g0091a0001c0004t0001g0092others(4): Show | 7 | 384 | 0.0182 | -8 | c.145 others(25): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306145 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01070.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0101a0001c0001t0002g0113others(16): Show | 42 | 384 | 0.1094 | -8 | c.-32 others(19): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03225.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0027others(1): Show | 5 | 416 | 0.0120 | -8 | c.*41 others(19): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243445 | CGCGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01167.hp2 HG01169.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0089a0001c0001t0001g0263a0001c0001t0001g0328others(17): Show | 20 | 354 | 0.0565 | -8 | c.286 others(27): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42264489 | CCATCCAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(143): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0076a0001c0001t0001g0083a0001c0001t0001g0089others(141): Show | 146 | 354 | 0.4124 | -8 | c.287 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG4_chr11_119144052_119167653 | 119147464 | GGAAAGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02647.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0011others(5): Show | 14 | 388 | 0.0361 | -8 | c.-19 others(19): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43828472 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01099.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0246a0002c0002t0002g0170a0002c0002t0002g0171others(3): Show | 6 | 330 | 0.0182 | -8 | c.502 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846988 | GTGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02300.hp1 HG02809.hp1 others(1): Show |
a0002a0018 | a0002c0003a0002c0026a0018c0019 | a0002c0003t0006a0002c0003t0099a0002c0026t0095others(1): Show | a0002c0003t0006g0256a0002c0003t0099g0035a0002c0026t0095g0192others(1): Show | 4 | 318 | 0.0126 | -8 | c.322 others(23): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(296): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(277): Show | 299 | 376 | 0.7952 | -8 | c.487 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01515.hp2 HG01975.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0081a0001c0001t0001g0094others(7): Show | 10 | 316 | 0.0317 | -8 | c.192 others(27): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01074.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0031a0002c0002t0002g0033 | 10 | 344 | 0.0291 | -8 | c.*87 others(17): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | GATAAATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0068 | 4 | 416 | 0.0096 | -8 | c.-14 others(19): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71894087 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(107): Show | 139 | 186 | 0.7473 | -8 | c.-4+ others(25): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80725812 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(195): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(185): Show | 198 | 360 | 0.5500 | -8 | c.591 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80733960 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(296): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(282): Show | 299 | 360 | 0.8306 | -8 | c.591 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |