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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58347688 | GCCCCAGG others(6): Show |
G | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 386 | 0.0026 | -13 | c.119 others(28): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/7 | chr19 | TogoVar | ||||||
A1CF_chr10_50794409_50890627 | 50830563 | AAAATGAA others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0037 | a0001c0001t0008g0006a0001c0001t0008g0098a0001c0001t0037g0050 | 5 | 338 | 0.0148 | -13 | c.605 others(30): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 6/12 | chr10 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0202 | 1 | 418 | 0.0024 | -13 | c.336 others(30): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0001 | a0001c0001t0004g0288a0002c0003t0001g0232a0002c0003t0001g0276 | 3 | 406 | 0.0074 | -13 | c.-18 others(32): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42720267 | AATCCTCA others(6): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0084 | 1 | 406 | 0.0025 | -13 | c.-18 others(30): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42724628 | ACTGCAGC others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 406 | 0.0025 | -13 | c.-40 others(24): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 3759 | chr22 | TogoVar | ||||||
A4GNT_chr3_138118713_138137390 | 138127523 | GAGATCAC others(6): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 398 | 0.0025 | -13 | c.409 others(30): Show |
A4GNT | ENSG00000118017.4 | transcript | ENST00000236709.4 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02922.hp2 HG03471.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0007a0002c0007t0001 | a0001c0001t0001g0159a0001c0001t0001g0162a0001c0001t0001g0163others(4): Show | 7 | 364 | 0.0192 | -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 | 125110237 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 364 | 0.0028 | -13 | c.915 others(30): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151765807 | TCCTTAAC others(6): Show |
T | downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 1 | 428 | 0.0023 | -13 | c.*82 others(24): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4469 | chr3 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12659380 | ATGAGGAG others(6): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0242 | 1 | 310 | 0.0032 | -13 | c.386 others(30): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67196179 | AAAAAAAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0352 | 1 | 380 | 0.0026 | -13 | c.*66 others(24): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 4487 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0253 | 1 | 380 | 0.0026 | -13 | c.74- others(28): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269322 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG02080.hp2 HG02155.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0162a0001c0002t0001g0193a0001c0002t0001g0195others(10): Show | 13 | 362 | 0.0359 | -13 | c.962 others(28): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81143257 | GTCCCAGG others(6): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 368 | 0.0027 | -13 | c.56- others(28): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81148064 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp1 NA18960.hp1 |
a0001a0007 | a0001c0004a0007c0008 | a0001c0004t0002a0007c0008t0001 | a0001c0004t0002g0131a0007c0008t0001g0130 | 2 | 368 | 0.0054 | -13 | c.56- others(30): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146194 | TATATATA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0025 | a0025c0029 | a0025c0029t0014 | a0025c0029t0014g0197 | 1 | 348 | 0.0029 | -13 | c.*26 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1812 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69146209 | TATATATA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0015 | a0015c0030 | a0015c0030t0001 | a0015c0030t0001g0260 | 1 | 348 | 0.0029 | -13 | c.*26 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1797 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02132.hp1 HG03490.hp1 others(6): Show |
a0001a0010a0014others(1): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(5): Show | a0001c0001t0012g0191a0001c0004t0010g0198a0001c0009t0008g0188others(6): Show | 9 | 198 | 0.0455 | -13 | c.69+ others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411030 | TCTTTCTT others(6): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0081 | a0081c0086 | a0081c0086t0009 | a0081c0086t0009g0160 | 1 | 178 | 0.0056 | -13 | c.122 others(32): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862644 | CGGGCCGG others(6): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0010 | a0010c0007 | a0010c0007t0002 | a0010c0007t0002g0015 | 1 | 318 | 0.0031 | -13 | c.422 others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862649 | CGGGCCGG others(6): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 318 | 0.0031 | -13 | c.422 others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862654 | CGGGCCGG others(6): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02895.hp2 HG02897.hp2 |
a0001a0002 | a0001c0005a0002c0015 | a0001c0005t0001a0002c0015t0013 | a0001c0005t0001g0050a0002c0015t0013g0305a0002c0015t0013g0306 | 3 | 318 | 0.0094 | -13 | c.422 others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104882028 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG03834.hp1 |
a0003a0007 | a0003c0009a0007c0003 | a0003c0009t0003a0007c0003t0016a0007c0003t0020 | a0003c0009t0003g0209a0007c0003t0016g0242a0007c0003t0020g0179 | 3 | 318 | 0.0094 | -13 | c.421 others(29): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104891966 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 318 | 0.0031 | -13 | c.67- others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(76): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0035others(45): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(66): Show | a0001c0001t0004g0194a0001c0001t0006g0214a0001c0001t0006g0225others(76): Show | 79 | 318 | 0.2484 | -13 | c.66+ others(28): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316324 | GAAAAAAG others(6): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0022 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0234a0001c0001t0001g0242a0001c0003t0001g0226others(7): Show | 10 | 252 | 0.0397 | -13 | c.111 others(30): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2343707 | CCCTATCT others(6): Show |
C | upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 252 | 0.0040 | -13 | c.-36 others(24): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2980 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94120879 | CCCACCCT others(6): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0007 | 1 | 306 | 0.0033 | -13 | c.66+ others(25): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94120887 | GCCCCACC others(6): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp1 |
a0006a0042 | a0006c0076a0042c0092 | a0006c0076t0001a0042c0092t0004 | a0006c0076t0001g0005a0042c0092t0004g0006 | 2 | 306 | 0.0065 | -13 | c.66+ others(24): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293871 | TGCGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG03942.hp1 NA19063.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0243a0002c0001t0002g0281 | 2 | 350 | 0.0057 | -13 | c.149 others(30): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146194 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0161 | 1 | 326 | 0.0031 | -13 | c.-45 others(24): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4300 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68904293 | ATAATAAT others(6): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0188 | 1 | 274 | 0.0037 | -13 | c.239 others(30): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922190 | CTCTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG02523.hp1 HG03041.hp2 others(9): Show |
a0001a0021a0027 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0215a0001c0001t0001g0219a0001c0003t0001g0055others(9): Show | 12 | 274 | 0.0438 | -13 | c.150 others(28): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02698.hp1 NA18906.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0001 | a0001c0004t0001g0188a0001c0011t0001g0140 | 2 | 274 | 0.0073 | -13 | c.150 others(28): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68952482 | TGATTCAA others(6): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0142 | 1 | 274 | 0.0037 | -13 | c.-16 others(32): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 1/39 | chr17 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229524571 | CACTTTAA others(6): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02895.hp2 |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0059a0006c0007t0002g0060a0006c0007t0002g0063 | 3 | 284 | 0.0106 | -13 | c.190 others(32): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 10/12 | chr1 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229529295 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0030 | 1 | 284 | 0.0035 | -13 | c.164 others(30): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 8/12 | chr1 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20691168 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0011 | a0011c0017 | a0011c0017t0003 | a0011c0017t0003g0004 | 1 | 360 | 0.0028 | -13 | c.201 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20711832 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0341 | 1 | 360 | 0.0028 | -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 | 20717883 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0023 | a0023c0087 | a0023c0087t0001 | a0023c0087t0001g0081 | 1 | 360 | 0.0028 | -13 | c.242 others(32): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCC10_chr6_43422541_43455427 | 43429342 | CTTCTTTC others(6): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 342 | 0.0029 | -13 | c.161 others(30): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16043295 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0001g0125others(28): Show | 31 | 249 | 0.1245 | -13 | c.810 others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0118 | 1 | 249 | 0.0040 | -13 | c.147 others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673997 | TCTCTCTC others(6): Show |
T | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 342 | 0.0029 | -13 | c.259 others(30): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674260 | TTTCACCA others(6): Show |
T | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 342 | 0.0029 | -13 | c.259 others(30): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95017022 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0012a0001c0013a0001c0017others(3): Show | a0001c0012t0006a0001c0013t0006a0001c0017t0006others(3): Show | a0001c0012t0006g0224a0001c0013t0006g0031a0001c0017t0006g0138others(3): Show | 6 | 248 | 0.0242 | -13 | c.*45 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 2812 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95054021 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 |
a0001a0002 | a0001c0010a0001c0022a0002c0015 | a0001c0010t0024a0001c0022t0011a0002c0015t0011 | a0001c0010t0024g0024a0001c0022t0011g0039a0002c0015t0011g0018 | 3 | 248 | 0.0121 | -13 | c.336 others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95061593 | TTTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0020 | a0002c0020t0004 | a0002c0020t0004g0130 | 1 | 248 | 0.0040 | -13 | c.336 others(32): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 26/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95133108 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18985.hp1 | a0008 | a0008c0031 | a0008c0031t0002 | a0008c0031t0002g0002 | 1 | 248 | 0.0040 | -13 | c.245 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar |