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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1CF_chr10_50794409_50890627 | 50872946 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01516.hp2 HG02523.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0276a0001c0001t0003g0033a0001c0001t0003g0259others(11): Show | 15 | 338 | 0.0444 | -14 | c.-93 others(31): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42714274 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0283a0002c0003t0001g0284 | 2 | 406 | 0.0049 | -14 | c.-18 others(33): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125094978 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03195.hp1 others(5): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0024 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0079others(5): Show | 8 | 364 | 0.0220 | -14 | c.570 others(31): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125103987 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 364 | 0.0028 | -14 | c.767 others(29): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AACS_chr12_125060435_125148316 | 125110189 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0030a0001c0001t0001g0031others(25): Show | 28 | 364 | 0.0769 | -14 | c.915 others(31): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADACL2_chr3_151728927_151766339 | 151761204 | GATATATA others(7): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0034a0001c0001t0063others(1): Show | a0001c0001t0017g0001a0001c0001t0017g0029a0001c0001t0017g0039others(4): Show | 11 | 428 | 0.0257 | -14 | c.*36 others(25): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3635 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADAT_chr4_170055222_170094956 | 170072211 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 378 | 0.0027 | -14 | c.654 others(29): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 5/12 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67216442 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 380 | 0.0026 | -14 | c.536 others(31): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222240 | GCGCACAC others(7): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0259a0001c0001t0001g0267others(5): Show | 9 | 380 | 0.0237 | -14 | c.535 others(31): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500690 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0064 | 1 | 298 | 0.0034 | -14 | c.227 others(33): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69553437 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG03041.hp2 |
a0001a0005 | a0001c0004a0005c0010 | a0001c0004t0017a0005c0010t0010 | a0001c0004t0017g0073a0005c0010t0010g0153 | 2 | 298 | 0.0067 | -14 | c.282 others(31): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69638733 | ATCTGCTG others(7): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0020 | a0003c0020t0084 | a0003c0020t0084g0105 | 1 | 298 | 0.0034 | -14 | c.163 others(31): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0130a0001c0001t0001g0135others(8): Show | 11 | 382 | 0.0288 | -14 | c.-18 others(31): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCTCTC others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005a0001c0002t0002g0088a0001c0002t0002g0130others(6): Show | 14 | 298 | 0.0470 | -14 | c.-37 others(25): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70269322 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01070.hp2 others(24): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0156others(23): Show | 27 | 362 | 0.0746 | -14 | c.962 others(29): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272889 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00597.hp2 NA18954.hp2 NA18971.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0130a0001c0002t0001g0236a0001c0002t0001g0242others(3): Show | 6 | 362 | 0.0166 | -14 | c.480 others(29): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965994 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 324 | 0.0031 | -14 | c.-15 others(25): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36968263 | CTTCTTTC others(7): Show |
C | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 245 | 0.0041 | -14 | c.832 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 36968266 | CTTTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0004 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0039others(14): Show | 17 | 245 | 0.0694 | -14 | c.832 others(33): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81164079 | CCCAGCAC others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(92): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0011others(20): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(83): Show | 95 | 368 | 0.2582 | -14 | c.55+ others(29): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8710683 | TGAGAGAG others(7): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321a0001c0001t0001g0324 | 2 | 362 | 0.0055 | -14 | c.-41 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8724732 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 362 | 0.0028 | -14 | c.-41 others(33): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8772252 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(30): Show | a0001c0001t0001g0011a0001c0001t0001g0246a0001c0001t0002g0030others(98): Show | 101 | 362 | 0.2790 | -14 | c.817 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABAT_chr16_8669617_8789570 | 8773105 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01192.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0239a0001c0001t0001g0321a0001c0001t0001g0324others(18): Show | 21 | 362 | 0.0580 | -14 | c.954 others(29): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69211314 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0239 | 1 | 348 | 0.0029 | -14 | c.100 others(33): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950382 | ATCTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG03579.hp2 |
a0005a0021 | a0005c0062a0005c0064a0021c0037 | a0005c0062t0004a0005c0064t0004a0021c0037t0004 | a0005c0062t0004g0078a0005c0064t0004g0070a0021c0037t0004g0023 | 3 | 198 | 0.0152 | -14 | c.685 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214950384 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02280.hp1 others(6): Show |
a0001a0002a0003 | a0001c0005a0001c0010a0002c0007others(3): Show | a0001c0005t0003a0001c0010t0002a0001c0010t0009others(5): Show | a0001c0005t0003g0077a0001c0010t0002g0168a0001c0010t0009g0001others(6): Show | 9 | 198 | 0.0455 | -14 | c.685 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215016582 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG03453.hp2 |
a0002a0007 | a0002c0054a0007c0034 | a0002c0054t0009a0007c0034t0005 | a0002c0054t0009g0004a0007c0034t0005g0169 | 2 | 198 | 0.0101 | -14 | c.178 others(31): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215133149 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0033others(2): Show | a0001c0001t0012a0001c0009t0010a0001c0033t0026others(2): Show | a0001c0001t0012g0192a0001c0009t0010g0187a0001c0033t0026g0193others(2): Show | 5 | 198 | 0.0253 | -14 | c.69+ others(29): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48341902 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0085a0001c0001t0004g0057 | 2 | 178 | 0.0112 | -14 | c.102 others(35): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48341928 | CTCATATA others(7): Show |
C | intron_variant | MODIFIER | HG01123.hp2 NA19030.hp1 |
a0007a0026 | a0007c0102a0026c0026 | a0007c0102t0001a0026c0026t0001 | a0007c0102t0001g0020a0026c0026t0001g0053 | 2 | 178 | 0.0112 | -14 | c.102 others(35): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411009 | TTCTTTCT others(7): Show |
T | intron_variant | MODIFIER | NA19060.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0032 | 1 | 178 | 0.0056 | -14 | c.122 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48411035 | CTTTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 NA20129.hp2 |
a0034a0080a0088 | a0034c0105a0080c0090a0088c0037 | a0034c0105t0005a0080c0090t0005a0088c0037t0005 | a0034c0105t0005g0037a0080c0090t0005g0104a0088c0037t0005g0092 | 3 | 178 | 0.0169 | -14 | c.122 others(33): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48563794 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0007a0039a0057others(2): Show | a0007c0011a0039c0110a0057c0036others(2): Show | a0007c0011t0007a0039c0110t0007a0057c0036t0007others(2): Show | a0007c0011t0007g0165a0039c0110t0007g0126a0057c0036t0007g0083others(2): Show | 5 | 178 | 0.0281 | -14 | c.143 others(37): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104799394 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 |
a0004 | a0004c0064a0004c0096 | a0004c0064t0007a0004c0096t0007 | a0004c0064t0007g0175a0004c0096t0007g0020 | 2 | 318 | 0.0063 | -14 | c.494 others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 36/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104896711 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02559.hp2 HG02630.hp1 others(7): Show |
a0002a0004a0007others(4): Show | a0002c0017a0002c0085a0004c0029others(6): Show | a0002c0017t0002a0002c0085t0008a0004c0029t0001others(7): Show | a0002c0017t0002g0271a0002c0085t0008g0142a0004c0029t0001g0099others(7): Show | 10 | 318 | 0.0315 | -14 | c.66+ others(29): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104909607 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02572.hp1 others(4): Show |
a0002a0003a0005others(4): Show | a0002c0025a0003c0056a0005c0052others(4): Show | a0002c0025t0015a0003c0056t0001a0005c0052t0001others(4): Show | a0002c0025t0015g0283a0003c0056t0001g0288a0005c0052t0001g0281others(4): Show | 7 | 318 | 0.0220 | -14 | c.-92 others(31): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316322 | AAGAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0190 | 1 | 252 | 0.0040 | -14 | c.111 others(31): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA3_chr16_2270881_2345728 | 2316490 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0098 | 1 | 252 | 0.0040 | -14 | c.111 others(31): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94116955 | CCTTTCTT others(7): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG03704.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0082others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0082t0002others(1): Show | a0001c0001t0001g0213a0001c0001t0001g0214a0002c0002t0001g0211others(2): Show | 5 | 306 | 0.0163 | -14 | c.67- others(29): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | ||||||
ABCA4_chr1_93987834_94126148 | 94124144 | TTTTTGTT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0249 | 1 | 306 | 0.0033 | -14 | c.-31 others(25): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2997 | chr1 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69292992 | ACCCTATT others(7): Show |
A | intron_variant | MODIFIER | NA18980.hp2 NA19074.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127a0001c0002t0001g0134 | 2 | 350 | 0.0057 | -14 | c.149 others(33): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69293872 | GCGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(54): Show |
a0002a0007a0008others(3): Show | a0002c0001a0007c0011a0008c0012others(3): Show | a0002c0001t0002a0002c0001t0009a0002c0001t0011others(5): Show | a0002c0001t0002g0014a0002c0001t0002g0214a0002c0001t0002g0216others(54): Show | 57 | 350 | 0.1629 | -14 | c.149 others(31): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 11/38 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1066626 | AGACGGAC others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02145.hp2 HG02723.hp2 others(5): Show |
a0003a0006a0008others(4): Show | a0003c0005a0006c0020a0008c0006others(4): Show | a0003c0005t0002a0006c0020t0002a0008c0006t0002others(4): Show | a0003c0005t0002g0002a0003c0005t0002g0003a0006c0020t0002g0020others(5): Show | 8 | 30 | 0.2667 | -14 | c.*12 others(25): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1055 | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68904289 | AGAAATAA others(7): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01069.hp1 others(37): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(14): Show | a0001c0001t0001g0008a0001c0001t0001g0186a0001c0001t0001g0211others(36): Show | 40 | 274 | 0.1460 | -14 | c.239 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68911734 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0008 | a0008c0040 | a0008c0040t0001 | a0008c0040t0001g0121 | 1 | 274 | 0.0037 | -14 | c.213 others(33): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 17/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922190 | CTCTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG02129.hp1 HG02129.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0155a0001c0001t0001g0216a0001c0002t0001g0242others(13): Show | 16 | 274 | 0.0584 | -14 | c.150 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68922194 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02615.hp1 HG03516.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0040 | a0001c0001t0001a0008c0040t0001 | a0001c0001t0001g0218a0001c0001t0001g0230a0001c0001t0001g0250others(2): Show | 5 | 274 | 0.0183 | -14 | c.150 others(29): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68935539 | CCTATATA others(7): Show |
C | intron_variant | MODIFIER | HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show |
a0001a0006 | a0001c0003a0006c0038 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0101a0001c0003t0002g0100a0001c0003t0003g0097others(2): Show | 5 | 274 | 0.0183 | -14 | c.466 others(31): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | ||||||
ABCA9_chr17_68969488_69065927 | 68971484 | AGTGTGTG others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp2 HG03516.hp2 NA18953.hp1 |
a0001a0006a0019 | a0001c0001a0006c0010a0019c0023 | a0001c0001t0001a0006c0010t0002a0019c0023t0003 | a0001c0001t0001g0258a0006c0010t0002g0120a0019c0023t0003g0013 | 3 | 312 | 0.0096 | -14 | c.*44 others(25): Show |
ABCA9 | ENSG00000154258.17 | transcript | ENST00000340001.9 | protein_coding | 3003 | chr17 | TogoVar |