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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0077 | 1 | 406 | 0.0025 | 17 | c.-18 others(38): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0003others(2): Show | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095others(8): Show | 11 | 406 | 0.0271 | 17 | c.-18 others(38): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0011 | 1 | 406 | 0.0025 | 17 | c.-18 others(38): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151758516 | A | ATATTTTC others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(99): Show | 213 | 428 | 0.4977 | 17 | c.*92 others(26): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 929 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AAGAB_chr15_67195667_67259661 | 67253260 | C | CGGGGGGG others(10): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 380 | 0.0026 | 17 | c.73+ others(32): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69488179 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0103 | 1 | 298 | 0.0034 | 17 | c.236 others(36): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01943.hp2 HG02004.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0004g0216a0001c0001t0004g0233a0001c0001t0004g0264others(11): Show | 14 | 298 | 0.0470 | 17 | c.236 others(36): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0135a0001c0001t0001g0137others(9): Show | 12 | 382 | 0.0314 | 17 | c.132 others(34): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AARS1_chr16_70247298_70294506 | 70289739 | C | CCCCCCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 362 | 0.0028 | 17 | c.-34 others(26): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 234 | chr16 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0281 | 1 | 382 | 0.0026 | 17 | c.290 others(36): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCACAC others(10): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0223 | 1 | 382 | 0.0026 | 17 | c.351 others(32): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00735.hp1 others(35): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0007a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0003g0033others(32): Show | 38 | 384 | 0.0990 | 17 | c.-16 others(34): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81123782 | T | TGGGCAGG others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0027 | a0027c0048 | a0027c0048t0004 | a0027c0048t0004g0310 | 1 | 368 | 0.0027 | 17 | c.963 others(32): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 9/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8707353 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp1 HG03098.hp1 others(1): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0006a0002c0002t0007a0002c0006t0007others(1): Show | a0002c0002t0006g0351a0002c0002t0007g0275a0002c0006t0007g0228others(1): Show | 4 | 362 | 0.0111 | 17 | c.-41 others(36): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8710727 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18943.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0003 | a0001c0001t0005g0127a0002c0004t0003g0181 | 2 | 362 | 0.0055 | 17 | c.-41 others(36): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8723827 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 362 | 0.0028 | 17 | c.-41 others(36): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(10): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 362 | 0.0028 | 17 | c.70+ others(32): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69146207 | A | AATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(5): Show |
a0007 | a0007c0008 | a0007c0008t0004a0007c0008t0007 | a0007c0008t0004g0196a0007c0008t0007g0006a0007c0008t0007g0333others(4): Show | 8 | 348 | 0.0230 | 17 | c.*26 others(28): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 1799 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210170 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0195 | 1 | 348 | 0.0029 | 17 | c.100 others(36): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214932939 | G | GGGGCTTG others(10): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0006 | a0001c0006t0023 | a0001c0006t0023g0146 | 1 | 198 | 0.0051 | 17 | c.768 others(34): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 52/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01952.hp1 NA19043.hp1 |
a0007a0027a0030 | a0007c0011a0027c0021a0030c0042 | a0007c0011t0003a0027c0021t0008a0030c0042t0004 | a0007c0011t0003g0130a0027c0021t0008g0077a0030c0042t0004g0073 | 3 | 178 | 0.0169 | 17 | c.764 others(34): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48637381 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01192.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0004a0002c0002t0004a0003c0003t0004others(8): Show | a0001c0001t0004g0057a0001c0001t0004g0164a0002c0002t0004g0140others(10): Show | 13 | 178 | 0.0730 | 17 | c.148 others(38): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01257.hp1 others(2): Show |
a0001a0003a0037 | a0001c0001a0001c0108a0003c0002others(2): Show | a0001c0001t0001a0001c0108t0002a0003c0002t0002others(2): Show | a0001c0001t0001g0077a0001c0108t0002g0113a0003c0002t0002g0257others(2): Show | 5 | 318 | 0.0157 | 17 | c.421 others(33): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137022019 | A | ATGGCTCA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(58): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(185): Show | 303 | 320 | 0.9469 | 17 | c.568 others(30): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 6/48 | chr9 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94011910 | C | CCAGCTGC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01081.hp1 others(37): Show |
a0001a0002a0003others(16): Show | a0001c0004a0001c0005a0001c0085others(22): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(23): Show | a0001c0004t0001g0036a0001c0004t0001g0091a0001c0004t0001g0151others(37): Show | 40 | 306 | 0.1307 | 17 | c.546 others(34): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 38/49 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69251530 | C | CAAGTTAT others(10): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0013 | a0013c0019 | a0013c0019t0002 | a0013c0019t0002g0252 | 1 | 350 | 0.0029 | 17 | c.453 others(34): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 35/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69252016 | A | ACTTTTAT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(107): Show |
a0001a0010a0011 | a0001c0002a0001c0006a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(8): Show | a0001c0002t0001g0002a0001c0002t0001g0045a0001c0002t0001g0046others(106): Show | 110 | 350 | 0.3143 | 17 | c.441 others(34): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 34/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03209.hp1 HG03486.hp1 |
a0001a0004a0005 | a0001c0004a0004c0005a0005c0007 | a0001c0004t0005a0004c0005t0003a0005c0007t0006 | a0001c0004t0005g0329a0004c0005t0003g0203a0005c0007t0006g0346 | 3 | 350 | 0.0086 | 17 | c.331 others(36): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69299500 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0326 | 1 | 350 | 0.0029 | 17 | c.126 others(36): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69146207 | A | AATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(5): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0008a0006c0007t0001g0021a0006c0007t0001g0022others(2): Show | 8 | 326 | 0.0245 | 17 | c.-45 others(28): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4313 | chr17 | TogoVar | ||||||
ABCB10_chr1_229511582_229563707 | 229550525 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0007 | a0001c0002t0001g0037a0001c0002t0001g0040a0001c0002t0001g0041others(2): Show | 5 | 284 | 0.0176 | 17 | c.518 others(34): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 1/12 | chr1 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87516731 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03834.hp1 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0003c0004t0002 | a0001c0001t0010g0035a0003c0004t0002g0054a0003c0004t0002g0134 | 3 | 352 | 0.0085 | 17 | c.292 others(32): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87568266 | T | TAATAATA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0260a0001c0001t0001g0289others(2): Show | 5 | 352 | 0.0142 | 17 | c.339 others(34): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 5/27 | chr7 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87589836 | G | GAGAGAGA others(10): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19005.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0068a0003c0004t0002g0067 | 2 | 352 | 0.0057 | 17 | c.118 others(34): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 3/27 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0028 | a0028c0034 | a0028c0034t0001 | a0028c0034t0001g0108 | 1 | 360 | 0.0028 | 17 | c.233 others(34): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 232 | 0.0043 | 17 | c.334 others(34): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0092a0001c0001t0002g0095 | 3 | 232 | 0.0129 | 17 | c.334 others(34): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GTGTGTGT others(10): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0037 | 1 | 232 | 0.0043 | 17 | c.169 others(34): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15966348 | G | GTTGCAGT others(10): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0079 | 1 | 249 | 0.0040 | 17 | c.48+ others(34): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15982803 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0048 | 1 | 249 | 0.0040 | 17 | c.49- others(34): 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(10): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0224 | 1 | 249 | 0.0040 | 17 | c.49- others(32): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16007214 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 249 | 0.0040 | 17 | c.49- others(30): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp2 NA19043.hp1 |
a0001 | a0001c0007a0001c0022 | a0001c0007t0001a0001c0007t0008a0001c0022t0009 | a0001c0007t0001g0026a0001c0007t0008g0115a0001c0022t0009g0006 | 3 | 249 | 0.0121 | 17 | c.351 others(32): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16143529 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG03579.hp1 |
a0001a0003 | a0001c0008a0003c0031 | a0001c0008t0009a0003c0031t0009 | a0001c0008t0009g0185a0003c0031t0009g0110 | 2 | 249 | 0.0080 | 17 | c.*22 others(28): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 477 | chr16 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673977 | T | TCTTTCTT others(10): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 342 | 0.0029 | 17 | c.259 others(34): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673982 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 342 | 0.0029 | 17 | c.259 others(34): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95218896 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01981.hp1 others(4): Show |
a0001 | a0001c0003a0001c0009a0001c0010others(4): Show | a0001c0003t0001a0001c0009t0002a0001c0010t0004others(4): Show | a0001c0003t0001g0036a0001c0009t0002g0123a0001c0010t0004g0119others(4): Show | 7 | 248 | 0.0282 | 17 | c.532 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 4/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244620 | A | AGGAAGGA others(10): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02148.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0049 | a0001c0001t0001a0001c0001t0008a0001c0049t0003 | a0001c0001t0001g0171a0001c0001t0001g0187a0001c0001t0008g0247others(1): Show | 4 | 248 | 0.0161 | 17 | c.306 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244641 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0055 | a0001c0055t0001 | a0001c0055t0001g0033 | 1 | 248 | 0.0040 | 17 | c.306 others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95286123 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0041 | a0001c0041t0009 | a0001c0041t0009g0127 | 1 | 248 | 0.0040 | 17 | c.74+ others(34): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar |