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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | NA18950.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297a0001c0001t0002g0298 | 2 | 364 | 0.0055 | -22 | c.570 others(39): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0159a0001c0001t0001g0203a0001c0001t0002g0200others(3): Show | 6 | 364 | 0.0165 | -22 | c.915 others(39): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADAT_chr4_170055222_170094956 | 170073899 | CAGTGGGC others(15): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0046a0001c0001t0001g0195 | 6 | 378 | 0.0159 | -22 | c.445 others(37): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 4/12 | chr4 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269322 | GAAAAAAA others(15): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 362 | 0.0028 | -22 | c.962 others(37): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44298649 | CTCAGCAG others(15): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0009 | a0009c0015 | a0009c0015t0007 | a0009c0015t0007g0079 | 1 | 396 | 0.0025 | -22 | c.*18 others(33): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 81 | chr6 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37046730 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 245 | 0.0041 | -22 | c.162 others(41): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81119129 | CCAGGTGA others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(66): Show |
a0001a0003a0004others(7): Show | a0001c0004a0001c0060a0001c0066others(12): Show | a0001c0004t0002a0001c0004t0006a0001c0060t0002others(15): Show | a0001c0004t0002g0012a0001c0004t0002g0039a0001c0004t0002g0040others(62): Show | 69 | 368 | 0.1875 | -22 | c.408 others(39): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81119140 | CCAGGTGA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(114): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0002a0002c0032others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(25): Show | a0001c0001t0001g0153a0001c0001t0001g0178a0001c0001t0001g0221others(107): Show | 117 | 368 | 0.3179 | -22 | c.408 others(39): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(15): Show |
C | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0219 | 1 | 362 | 0.0028 | -22 | c.817 others(37): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02559.hp1 others(13): Show |
a0001a0002a0005 | a0001c0010a0001c0012a0001c0015others(7): Show | a0001c0010t0009a0001c0012t0014a0001c0015t0007others(8): Show | a0001c0010t0009g0001a0001c0012t0014g0015a0001c0015t0007g0009others(13): Show | 16 | 198 | 0.0808 | -22 | c.69+ others(37): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48280611 | GTCTCTGT others(15): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0072 | a0072c0069 | a0072c0069t0001 | a0072c0069t0001g0144 | 1 | 178 | 0.0056 | -22 | c.872 others(39): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 18/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411027 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp2 |
a0064a0071 | a0064c0073a0071c0038 | a0064c0073t0005a0071c0038t0005 | a0064c0073t0005g0047a0071c0038t0005g0135 | 2 | 178 | 0.0112 | -22 | c.122 others(41): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104799394 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | NA19066.hp2 | a0006 | a0006c0004 | a0006c0004t0005 | a0006c0004t0005g0206 | 1 | 318 | 0.0031 | -22 | c.494 others(39): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862669 | CGGGCCGG others(15): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0015 | a0002c0015t0004 | a0002c0015t0004g0004 | 1 | 318 | 0.0031 | -22 | c.422 others(37): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104862696 | GGCCGGCC others(15): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0026 | a0026c0111 | a0026c0111t0002 | a0026c0111t0002g0065 | 1 | 318 | 0.0031 | -22 | c.422 others(37): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94116955 | CCTTTCTT others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02004.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220 | 3 | 306 | 0.0098 | -22 | c.67- others(37): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0028 | a0028c0054 | a0028c0054t0001 | a0028c0054t0001g0223 | 1 | 274 | 0.0037 | -22 | c.150 others(37): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68944316 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG02698.hp2 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0047others(1): Show | 4 | 274 | 0.0146 | -22 | c.-5- others(37): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 2/39 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68971484 | AGTGTGTG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(167): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0007a0001c0008others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0084others(159): Show | 170 | 312 | 0.5449 | -22 | c.*44 others(33): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3003 | chr17 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 169016979 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0012 | a0012c0029 | a0012c0029t0001 | a0012c0029t0001g0108 | 1 | 306 | 0.0033 | -22 | c.77- others(35): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20717883 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 |
a0002a0007 | a0002c0003a0007c0016 | a0002c0003t0003a0007c0016t0001 | a0002c0003t0003g0015a0007c0016t0001g0115 | 2 | 360 | 0.0056 | -22 | c.242 others(41): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB9_chr12_122923992_122971463 | 122944188 | CAAAGTTC others(15): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 272 | 0.0037 | -22 | c.138 others(39): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 7/11 | chr12 | TogoVar | ||||||
ABCB9_chr12_122923992_122971463 | 122947742 | TGATGGCA others(15): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp1 others(110): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0069a0001c0001t0001g0088a0001c0001t0001g0144others(98): Show | 113 | 272 | 0.4154 | -22 | c.105 others(39): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43424623 | CTCCCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0038 | 1 | 342 | 0.0029 | -22 | c.-31 others(33): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2917 | chr6 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16053774 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(53): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(53): Show | 56 | 249 | 0.2249 | -22 | c.147 others(39): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673978 | TTCTCTCT others(15): Show |
T | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 342 | 0.0029 | -22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50674036 | CTTTCTTT others(15): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG02109.hp2 NA18962.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0053a0001c0001t0001g0114a0001c0004t0001g0319 | 3 | 342 | 0.0088 | -22 | c.259 others(39): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95029167 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG03579.hp1 |
a0001 | a0001c0040a0001c0066 | a0001c0040t0003a0001c0066t0003 | a0001c0040t0003g0124a0001c0066t0003g0035 | 2 | 248 | 0.0081 | -22 | c.387 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95029193 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02970.hp1 NA19240.hp2 |
a0001a0002 | a0001c0023a0002c0004 | a0001c0023t0003a0002c0004t0003 | a0001c0023t0003g0073a0002c0004t0003g0056 | 2 | 248 | 0.0081 | -22 | c.387 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95029195 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0054 | a0001c0054t0003 | a0001c0054t0003g0131 | 1 | 248 | 0.0040 | -22 | c.387 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95029233 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
a0001a0002 | a0001c0003a0001c0011a0001c0021others(3): Show | a0001c0003t0001a0001c0011t0002a0001c0021t0013others(4): Show | a0001c0003t0001g0216a0001c0011t0002g0088a0001c0021t0013g0015others(4): Show | 7 | 248 | 0.0282 | -22 | c.387 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95064252 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0009a0001c0021a0001c0026others(4): Show | a0001c0009t0002a0001c0021t0001a0001c0026t0005others(5): Show | a0001c0009t0002g0021a0001c0009t0002g0123a0001c0021t0001g0009others(7): Show | 10 | 248 | 0.0403 | -22 | c.321 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 25/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95159093 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 248 | 0.0040 | -22 | c.245 others(41): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450244 | TTTTCTTT others(15): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp1 HG01192.hp2 others(4): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0001c0020others(3): Show | a0001c0003t0001a0001c0006t0001a0001c0020t0001others(3): Show | a0001c0003t0001g0087a0001c0006t0001g0092a0001c0020t0001g0319others(4): Show | 7 | 330 | 0.0212 | -22 | c.117 others(41): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438282 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0017 | 1 | 362 | 0.0028 | -22 | c.110 others(41): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30593936 | TTGCATTT others(15): Show |
T | downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 415 | 0.0024 | -22 | c.*32 others(33): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2415 | chr6 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42267343 | CTGGGTTC others(15): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03486.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0089a0001c0001t0003g0088a0001c0002t0002g0094 | 3 | 354 | 0.0085 | -22 | c.287 others(39): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42267866 | CTGGTCTG others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00741.hp1 others(32): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0122a0001c0001t0001g0177a0001c0001t0002g0162others(32): Show | 35 | 354 | 0.0989 | -22 | c.287 others(39): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42295333 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0086a0001c0001t0004g0092a0001c0001t0004g0279others(2): Show | 5 | 354 | 0.0141 | -22 | c.177 others(39): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG01952.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0204a0001c0002t0003g0210a0001c0002t0003g0211 | 3 | 316 | 0.0095 | -22 | c.192 others(41): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89115367 | GGTATGTG others(15): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 HG02970.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0028a0001c0001t0001g0074a0001c0001t0001g0091others(9): Show | 12 | 234 | 0.0513 | -22 | c.-6- others(35): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 | 1 | 234 | 0.0043 | -22 | c.-6- others(35): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACAC others(15): Show |
G | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 302 | 0.0033 | -22 | c.120 others(39): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26811768 | AATTTGTA others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0112a0001c0001t0001g0113others(2): Show | 5 | 358 | 0.0140 | -22 | c.285 others(41): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843473 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 358 | 0.0028 | -22 | c.117 others(41): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843475 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00408.hp2 NA18982.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0124a0001c0001t0001g0137a0001c0001t0003g0285 | 3 | 358 | 0.0084 | -22 | c.117 others(41): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203338924 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 320 | 0.0031 | -22 | c.117 others(41): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203338961 | TAAATATA others(15): Show |
T | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0171a0001c0001t0006g0172 | 2 | 320 | 0.0063 | -22 | c.117 others(41): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100830102 | CATACATA others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0023 | a0009c0023t0017 | a0009c0023t0017g0005 | 1 | 238 | 0.0042 | -22 | c.245 others(39): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830106 | CATACATA others(15): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02970.hp1 |
a0008 | a0008c0016 | a0008c0016t0013 | a0008c0016t0013g0014a0008c0016t0013g0152 | 2 | 238 | 0.0084 | -22 | c.245 others(39): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar |