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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB7_chrX_75046048_75161283 | 75122861 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG01975.hp1 HG03041.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0164a0001c0001t0001g0208 | 3 | 232 | 0.0129 | 13 | c.169 others(30): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15982803 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG01243.hp1 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0024others(14): Show | a0001c0001t0001g0030a0001c0001t0001g0138a0001c0001t0001g0222others(24): Show | 27 | 249 | 0.1084 | 13 | c.49- others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15999690 | T | TCCTGGGC others(6): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 249 | 0.0040 | 13 | c.49- others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15999769 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0090 | 1 | 249 | 0.0040 | 13 | c.49- others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999809 | C | CTCTCTCT others(6): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0077 | 1 | 249 | 0.0040 | 13 | c.49- others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16006859 | C | CGGTGGCG others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 | 1 | 249 | 0.0040 | 13 | c.49- others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16006871 | C | CGGGTGGC others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0233 | 1 | 249 | 0.0040 | 13 | c.49- others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03098.hp1 HG03209.hp1 others(4): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0006a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0006g0093a0001c0001t0010g0120a0001c0001t0012g0033others(4): Show | 7 | 249 | 0.0281 | 13 | c.351 others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16026464 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02896.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0166a0001c0001t0004g0240a0001c0001t0010g0043 | 3 | 249 | 0.0121 | 13 | c.616 others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 HG03540.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0012a0001c0040 | a0001c0001t0001a0001c0012t0002a0001c0040t0015 | a0001c0001t0001g0138a0001c0012t0002g0155a0001c0040t0015g0182 | 3 | 249 | 0.0121 | 13 | c.*22 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50674065 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 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 | 50694129 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(168): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(30): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(168): Show | 171 | 342 | 0.5000 | 13 | c.*29 others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1877 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50694136 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 342 | 0.0029 | 13 | c.*29 others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1884 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50694137 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01346.hp1 HG01928.hp1 others(9): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0167a0001c0001t0001g0170a0001c0003t0001g0217others(9): Show | 12 | 342 | 0.0351 | 13 | c.*29 others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1885 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95218909 | G | GAGATGAG others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0009a0001c0013a0001c0025others(2): Show | a0001c0009t0001a0001c0013t0001a0001c0025t0002others(2): Show | a0001c0009t0001g0128a0001c0013t0001g0037a0001c0025t0002g0075others(2): Show | 5 | 248 | 0.0202 | 13 | c.532 others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244620 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 |
a0001 | a0001c0022a0001c0051 | a0001c0022t0011a0001c0051t0012 | a0001c0022t0011g0039a0001c0051t0012g0065 | 2 | 248 | 0.0081 | 13 | c.306 others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244624 | A | AGGAAGGA others(6): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0098 | 1 | 248 | 0.0040 | 13 | c.306 others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95286123 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02155.hp2 HG02572.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0002others(15): Show | a0001c0001t0001g0220a0001c0002t0001g0142a0001c0007t0002g0229others(16): Show | 19 | 248 | 0.0766 | 13 | c.74+ others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95290997 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(83): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(36): Show | a0001c0001t0001g0064a0001c0001t0001g0083a0001c0001t0001g0084others(83): Show | 86 | 248 | 0.3468 | 13 | c.74+ others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95291009 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18951.hp2 NA18959.hp2 |
a0001a0006 | a0001c0001a0001c0002a0006c0038 | a0001c0001t0001a0001c0002t0002a0006c0038t0002 | a0001c0001t0001g0211a0001c0002t0002g0195a0006c0038t0002g0145 | 3 | 248 | 0.0121 | 13 | c.74+ others(30): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | ||||||
ABCC5_chr3_183914934_184022884 | 184012047 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 378 | 0.0027 | 13 | c.129 others(30): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149370 | A | AAATACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 HG02109.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0190a0001c0001t0001g0233 | 3 | 357 | 0.0084 | 13 | c.*76 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 194 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16149370 | A | ATACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0048 | a0005c0048t0001 | a0005c0048t0001g0063 | 1 | 357 | 0.0028 | 13 | c.*76 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 194 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCCC others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01433.hp1 HG01433.hp2 others(2): Show |
a0001a0020 | a0001c0001a0001c0006a0020c0032 | a0001c0001t0001a0001c0006t0001a0020c0032t0001 | a0001c0001t0001g0179a0001c0001t0001g0338a0001c0001t0001g0340others(2): Show | 5 | 357 | 0.0140 | 13 | c.266 others(32): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16177618 | A | AATCCGTG others(6): Show |
frameshift_variant | HIGH | NA19077.hp2 | a0037 | a0037c0061 | a0037c0061t0001 | a0037c0061t0001g0129 | 1 | 357 | 0.0028 | 13 | c.241 others(24): Show |
p.Leu others(5): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 19/31 | 2483/5140 | 2423/4512 | 808/1503 | chr16 | TogoVar | ||
ABCC6_chr16_16144565_16228494 | 16194953 | T | TACAGGTT others(6): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0109 | 1 | 357 | 0.0028 | 13 | c.133 others(32): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 10/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17435018 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0044 | a0002c0044t0001 | a0002c0044t0001g0117 | 1 | 330 | 0.0030 | 13 | c.163 others(32): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450323 | T | TTTCTTTC others(6): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0245 | 1 | 330 | 0.0030 | 13 | c.117 others(32): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17469056 | T | TCCCTCCC others(6): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0081 | a0001c0081t0001 | a0001c0081t0001g0017 | 1 | 330 | 0.0030 | 13 | c.412 others(30): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21911895 | A | ATTTCCAT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(206): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(205): Show | 209 | 212 | 0.9859 | 13 | c.101 others(30): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 8/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915506 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0092 | 1 | 212 | 0.0047 | 13 | c.816 others(28): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915514 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02300.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0169a0001c0001t0001g0178 | 3 | 212 | 0.0142 | 13 | c.816 others(28): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151206743 | T | TAGATAGA others(6): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 390 | 0.0026 | 13 | c.*73 others(24): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 4740 | chr7 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 416 | 0.0024 | 13 | c.156 others(30): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42293950 | A | ACCACACA others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0022 | a0001c0001t0004g0003a0001c0001t0011g0039a0001c0001t0022g0022 | 4 | 354 | 0.0113 | 13 | c.165 others(30): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01169.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0004others(1): Show | a0001c0001t0015a0001c0001t0033a0001c0008t0014others(5): Show | a0001c0001t0015g0142a0001c0001t0033g0113a0001c0008t0014g0069others(5): Show | 8 | 318 | 0.0252 | 13 | c.*92 others(24): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111991018 | G | GAGATAGT others(6): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 424 | 0.0024 | 13 | c.577 others(28): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02965.hp2 HG03098.hp2 others(6): Show |
a0001a0002 | a0001c0006a0001c0011a0002c0004 | a0001c0006t0001a0001c0011t0007a0002c0004t0002others(1): Show | a0001c0006t0001g0092a0001c0011t0007g0114a0002c0004t0002g0060others(6): Show | 9 | 376 | 0.0239 | 13 | c.486 others(28): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50887211 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0011others(5): Show | a0001c0005t0004a0001c0006t0001a0001c0006t0003others(8): Show | a0001c0005t0004g0126a0001c0006t0001g0059a0001c0006t0001g0073others(33): Show | 38 | 376 | 0.1011 | 13 | c.700 others(28): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD14A_chr3_51970064_51986196 | 51973506 | T | TTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0007 | a0001c0001t0001a0002c0002t0002a0008c0007t0001 | a0001c0001t0001g0005a0002c0002t0002g0014a0002c0002t0002g0033others(2): Show | 15 | 344 | 0.0436 | 13 | c.-16 others(24): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1557 | chr3 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51973507 | T | TTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02135.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 5 | 344 | 0.0145 | 13 | c.-16 others(24): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1556 | chr3 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51973508 | T | TTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0032 | 12 | 344 | 0.0349 | 13 | c.-16 others(24): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1555 | chr3 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51973519 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 344 | 0.0029 | 13 | c.-16 others(24): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1544 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51973506 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003 | a0001c0001t0002g0028a0001c0001t0004g0026a0001c0001t0004g0027others(4): Show | 16 | 324 | 0.0494 | 13 | c.-29 others(28): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51973507 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02135.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0044 | 4 | 324 | 0.0124 | 13 | c.-29 others(28): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51973508 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049a0001c0001t0002g0011a0001c0001t0002g0019others(1): Show | 12 | 324 | 0.0370 | 13 | c.-29 others(28): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51973519 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 324 | 0.0031 | 13 | c.-29 others(28): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31695758 | C | CACTGTGG others(6): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 417 | 0.0024 | 13 | c.429 others(30): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 360 | 0.0028 | 13 | c.590 others(30): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18950.hp2 NA18978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0259a0001c0001t0001g0260others(1): Show | 5 | 360 | 0.0139 | 13 | c.590 others(32): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |