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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC4_chr13_95014835_95306451 | 95157088 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01975.hp2 HG02148.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0005others(5): Show | a0001c0001t0001g0181 a0001c0002t0001g0229 a0001c0003t0005g0077 others(5): Show |
8 | 80 | 0.1000 | 8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95157499 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02572.hp2 others(9): Show |
a0001a0002 | a0001c0003a0001c0009a0001c0021others(6): Show | a0001c0003t0002a0001c0003t0003a0001c0009t0002others(7): Show | a0001c0003t0002g0022 a0001c0003t0003g0138 a0001c0009t0002g0020 others(9): Show |
12 | 179 | 0.0670 | 8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95159093 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0185 others(25): Show |
28 | 41 | 0.6829 | 8 | c.245 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95167177 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG02258.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(9): Show | a0001c0001t0001g0083 a0001c0001t0001g0174 a0001c0002t0002g0162 others(10): Show |
13 | 151 | 0.0861 | 8 | c.182 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 14/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95196582 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03831.hp1 NA18968.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0002a0001c0003t0014a0001c0007t0001others(2): Show | a0001c0002t0002g0189 a0001c0003t0014g0081 a0001c0007t0001g0237 others(2): Show |
5 | 61 | 0.0820 | 8 | c.116 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95218927 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 NA18968.hp1 others(1): Show |
a0001a0004a0007 | a0001c0003a0001c0007a0004c0006others(1): Show | a0001c0003t0002a0001c0007t0001a0004c0006t0001others(1): Show | a0001c0003t0002g0164 a0001c0007t0001g0237 a0004c0006t0001g0195 others(1): Show |
4 | 211 | 0.0190 | 8 | c.532 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95219001 | A | AAAAAAGA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02071.hp2 NA18522.hp1 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0009a0002c0005others(4): Show | a0001c0001t0002a0001c0009t0005a0002c0005t0002others(4): Show | a0001c0001t0002g0102 a0001c0009t0005g0132 a0002c0005t0002g0146 others(4): Show |
7 | 99 | 0.0707 | 8 | c.532 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95222214 | A | AAGAGGAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(25): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0003a0001c0009others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0014others(14): Show | a0001c0002t0001g0136 a0001c0002t0001g0142 a0001c0002t0001g0160 others(25): Show |
28 | 246 | 0.1138 | 8 | c.532 others(27): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95244670 | A | AAATCAAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00738.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0167 a0001c0002t0001g0193 a0001c0002t0002g0162 |
3 | 215 | 0.0140 | 8 | c.306 others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95290103 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02523.hp1 HG02523.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(5): Show | a0001c0001t0002g0205 a0001c0002t0002g0047 a0001c0003t0002g0230 others(6): Show |
9 | 143 | 0.0629 | 8 | c.74+ others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95290109 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(17): Show | a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 others(27): Show |
30 | 246 | 0.1220 | 8 | c.74+ others(25): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95302342 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(20): Show | a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0191 others(42): Show |
45 | 85 | 0.5294 | 8 | c.-10 others(19): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 892 | chr13 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 183922035 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02080.hp1 HG02129.hp2 others(13): Show |
a0001a0007 | a0001c0001a0001c0013a0007c0021 | a0001c0001t0003a0001c0001t0016a0001c0013t0003others(1): Show | a0001c0001t0003g0007 a0001c0001t0003g0024 a0001c0001t0003g0205 others(12): Show |
16 | 131 | 0.1221 | 8 | c.421 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 29/29 | chr3 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 183959052 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp2 others(42): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0003g0261 a0001c0002t0001g0004 a0001c0002t0001g0042 others(40): Show |
45 | 80 | 0.5625 | 8 | c.248 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 17/29 | chr3 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 184012014 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG02486.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0190 a0001c0001t0003g0241 a0001c0001t0003g0242 others(14): Show |
17 | 89 | 0.1910 | 8 | c.129 others(25): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16149372 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG02109.hp2 others(8): Show |
a0001a0013a0024others(2): Show | a0001c0001a0013c0030a0024c0075others(2): Show | a0001c0001t0001a0013c0030t0001a0024c0075t0001others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0128 a0001c0001t0001g0143 others(8): Show |
11 | 79 | 0.1392 | 8 | c.*76 others(17): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 192 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16152192 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(25): Show |
a0001a0008a0015others(6): Show | a0001c0001a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0137 others(25): Show |
28 | 45 | 0.6222 | 8 | c.420 others(27): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 29/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCCC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(15): Show |
a0001a0005a0023 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0089 a0001c0001t0001g0127 others(15): Show |
18 | 246 | 0.0732 | 8 | c.266 others(27): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCGC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG02109.hp1 others(2): Show |
a0001a0002a0024others(1): Show | a0001c0001a0002c0068a0024c0075others(1): Show | a0001c0001t0001a0002c0068t0001a0024c0075t0001others(1): Show | a0001c0001t0001g0233 a0001c0001t0001g0305 a0002c0068t0001g0097 others(2): Show |
5 | 233 | 0.0215 | 8 | c.266 others(27): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17434984 | C | CGCGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02083.hp1 HG02109.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0006a0001c0014a0001c0023others(4): Show | a0001c0006t0001a0001c0014t0002a0001c0023t0001others(4): Show | a0001c0006t0001g0092 a0001c0014t0002g0006 a0001c0023t0001g0031 others(5): Show |
8 | 87 | 0.0920 | 8 | c.163 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17434984 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02258.hp2 HG02280.hp1 others(14): Show |
a0001a0003a0010 | a0001c0007a0001c0008a0001c0009others(8): Show | a0001c0007t0001a0001c0008t0001a0001c0009t0001others(8): Show | a0001c0007t0001g0036 a0001c0008t0001g0081 a0001c0009t0001g0289 others(13): Show |
17 | 96 | 0.1771 | 8 | c.163 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17444021 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02886.hp1 others(4): Show |
a0001a0007 | a0001c0004a0001c0010a0001c0022others(2): Show | a0001c0004t0001a0001c0010t0001a0001c0022t0001others(2): Show | a0001c0004t0001g0293 a0001c0010t0001g0298 a0001c0022t0001g0292 others(4): Show |
7 | 328 | 0.0213 | 8 | c.133 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 8/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450685 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01358.hp2 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0006a0001c0007others(6): Show | a0001c0003t0001a0001c0006t0001a0001c0007t0001others(6): Show | a0001c0003t0001g0095 a0001c0003t0001g0105 a0001c0003t0001g0106 others(14): Show |
17 | 198 | 0.0859 | 8 | c.117 others(27): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17467042 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(16): Show | a0001c0001t0001g0184 a0001c0003t0001g0082 a0001c0003t0001g0094 others(36): Show |
41 | 61 | 0.6721 | 8 | c.412 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21818526 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03098.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0011 | a0001c0001t0002g0078 a0001c0001t0002g0128 a0001c0002t0011g0002 |
3 | 102 | 0.0294 | 8 | c.367 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21827527 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0201 |
2 | 37 | 0.0541 | 8 | c.366 others(27): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21830974 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(64): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(63): Show |
67 | 84 | 0.7976 | 8 | c.356 others(27): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21834786 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01433.hp1 HG02293.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0020 | a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0080 others(6): Show |
9 | 65 | 0.1385 | 8 | c.356 others(27): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39602127 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG02109.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0001g0249 a0001c0001t0010g0078 a0001c0001t0018g0077 others(1): Show |
4 | 190 | 0.0211 | 8 | c.150 others(27): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 5/9 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94421562 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0114 a0001c0002t0001g0130 a0001c0002t0002g0002 others(55): Show |
61 | 142 | 0.4296 | 8 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438301 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01106.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0034 others(20): Show |
24 | 128 | 0.1875 | 8 | c.110 others(27): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(24): Show |
42 | 44 | 0.9545 | 8 | c.*58 others(19): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74301900 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 others(1): Show |
4 | 375 | 0.0107 | 8 | c.38+ others(21): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 1/18 | chr14 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151206719 | A | AAGATAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01952.hp2 HG02040.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0103 a0001c0003t0002g0002 others(6): Show |
31 | 110 | 0.2818 | 8 | c.*73 others(19): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 4764 | chr7 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01069.hp1 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(3): Show |
25 | 64 | 0.3906 | 8 | c.*41 others(19): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42253801 | G | GGAGGTCG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 NA18952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0165 a0001c0001t0002g0164 a0001c0001t0002g0230 others(3): Show |
6 | 352 | 0.0170 | 8 | c.287 others(27): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268362 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(70): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0001g0126 others(70): Show |
73 | 294 | 0.2483 | 8 | c.287 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268381 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03486.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0091 a0001c0001t0003g0090 a0001c0002t0002g0096 |
3 | 352 | 0.0085 | 8 | c.287 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268388 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0001t0004g0104 others(6): Show |
10 | 270 | 0.0370 | 8 | c.287 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268388 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02896.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0271 a0001c0001t0002g0183 others(4): Show |
7 | 267 | 0.0262 | 8 | c.287 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88098645 | G | GAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 others(103): Show |
107 | 177 | 0.6045 | 8 | c.149 others(25): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88098685 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG02109.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0026 a0002c0002t0001g0063 a0002c0004t0001g0012 others(1): Show |
4 | 310 | 0.0129 | 8 | c.149 others(25): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG01993.hp1 HG02004.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0104 a0002c0002t0001g0008 a0002c0002t0001g0202 others(9): Show |
12 | 67 | 0.1791 | 8 | c.532 others(25): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0261 a0001c0001t0001g0269 others(4): Show |
7 | 136 | 0.0515 | 8 | c.-19 others(25): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147464 | G | GAAAATAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG01258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0035 a0001c0001t0003g0003 a0001c0001t0003g0089 others(2): Show |
14 | 246 | 0.0569 | 8 | c.-19 others(19): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147464 | G | GGAAAGAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG01346.hp1 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0003 | a0001c0001t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0080 others(2): Show |
6 | 238 | 0.0252 | 8 | c.-19 others(19): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119164798 | A | AAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 HG02004.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0066 others(3): Show |
11 | 125 | 0.0880 | 8 | c.*36 others(19): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 2146 | chr11 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43846990 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02630.hp1 HG02886.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0011a0007c0009t0022a0007c0009t0028others(1): Show | a0001c0001t0011g0123 a0001c0001t0011g0124 a0007c0009t0022g0032 others(2): Show |
5 | 195 | 0.0256 | 8 | c.322 others(23): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43884376 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01081.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0003g0114 others(9): Show |
12 | 83 | 0.1446 | 8 | c.*64 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1389 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0070a0001c0008t0015a0001c0008t0050others(6): Show | a0001c0001t0070g0090 a0001c0008t0015g0077 a0001c0008t0050g0073 others(9): Show |
14 | 131 | 0.1069 | 8 | c.*92 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar |