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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAK1_chr2_69452997_69648739 | 69500664 | AATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG01433.hp1 HG02015.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0020 | a0001c0001t0004a0001c0001t0011a0001c0001t0024others(8): Show | a0001c0001t0004g0254a0001c0001t0011g0192a0001c0001t0011g0194others(14): Show | 17 | 298 | 0.0571 | -4 | c.227 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69505131 | ACACC | A | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0063a0001c0009t0125a0001c0009t0141 | a0001c0001t0063g0288a0001c0009t0125g0179a0001c0009t0141g0191 | 3 | 298 | 0.0101 | -4 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69505135 | CCACA | C | intron_variant | MODIFIER | HG01928.hp2 HG02109.hp2 HG03139.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0003c0021others(1): Show | a0001c0003t0082a0001c0003t0108a0001c0003t0109others(4): Show | a0001c0003t0082g0098a0001c0003t0108g0138a0001c0003t0109g0166others(4): Show | 7 | 298 | 0.0235 | -4 | c.226 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69506868 | CTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(84): Show |
a0002a0006a0009 | a0002c0002a0002c0024a0006c0015others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(39): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(84): Show | 87 | 298 | 0.2920 | -4 | c.216 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 15/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69536793 | TTCAG | T | intron_variant | MODIFIER | HG00140.hp1 HG01192.hp2 HG01433.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0044 | a0002c0002t0001g0040a0002c0002t0001g0057a0002c0002t0044g0041 | 3 | 298 | 0.0101 | -4 | c.535 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69541227 | CTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01928.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0014a0001c0001t0078a0001c0003t0081others(17): Show | a0001c0001t0014g0059a0001c0001t0014g0060a0001c0001t0014g0066others(20): Show | 23 | 298 | 0.0772 | -4 | c.534 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 5/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69548561 | TTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0028a0001c0006t0041a0001c0006t0042 | a0001c0006t0028g0126a0001c0006t0028g0134a0001c0006t0041g0008others(1): Show | 4 | 298 | 0.0134 | -4 | c.283 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69556046 | CTCTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0026a0004c0013 | a0001c0001t0008a0001c0001t0045a0001c0001t0063others(4): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0045g0287others(5): Show | 8 | 298 | 0.0269 | -4 | c.282 others(19): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69559262 | TCACA | T | intron_variant | MODIFIER | HG00323.hp1 HG02257.hp1 HG02486.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(2): Show | a0001c0001t0008a0001c0001t0056a0001c0001t0088others(6): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0056g0058others(8): Show | 11 | 298 | 0.0369 | -4 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69559296 | ACACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(78): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0007a0001c0001t0014a0001c0001t0021others(50): Show | a0001c0001t0007g0049a0001c0001t0007g0065a0001c0001t0014g0059others(78): Show | 81 | 298 | 0.2718 | -4 | c.164 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69599776 | GTGTT | G | intron_variant | MODIFIER | HG02895.hp2 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0016 | a0001c0001t0117a0002c0005t0122a0002c0005t0123others(2): Show | a0001c0001t0117g0189a0002c0005t0122g0182a0002c0005t0123g0183others(2): Show | 5 | 298 | 0.0168 | -4 | c.164 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69600311 | TAACA | T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(59): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(59): Show | 62 | 298 | 0.2081 | -4 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69618660 | TAACA | T | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0014a0001c0009t0035a0001c0009t0125others(1): Show | a0001c0001t0014g0059a0001c0009t0035g0190a0001c0009t0125g0179others(1): Show | 4 | 298 | 0.0134 | -4 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69618707 | TCCTA | T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01257.hp1 others(59): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(30): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221others(59): Show | 62 | 298 | 0.2081 | -4 | c.163 others(23): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69640014 | AACAC | A | intron_variant | MODIFIER | HG01361.hp1 HG01433.hp1 HG02109.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0020others(1): Show | a0001c0001t0092a0001c0003t0046a0003c0020t0084others(1): Show | a0001c0001t0092g0164a0001c0003t0046g0100a0003c0020t0084g0105others(1): Show | 4 | 298 | 0.0134 | -4 | c.163 others(21): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69647388 | TTTTA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01167.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0008a0001c0001t0078a0001c0001t0083others(13): Show | a0001c0001t0008g0012a0001c0001t0008g0013a0001c0001t0078g0055others(15): Show | 18 | 298 | 0.0604 | -4 | c.-40 others(15): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 3650 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77832949 | ATATG | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218a0001c0002t0002g0219a0001c0002t0002g0235others(7): Show | 10 | 382 | 0.0262 | -4 | c.-18 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77832951 | ATGTG | A | intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG01975.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0201a0001c0001t0001g0306a0001c0001t0001g0307others(5): Show | 8 | 382 | 0.0209 | -4 | c.-18 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77836997 | GTGTT | G | intron_variant | MODIFIER | NA18747.hp1 NA18950.hp2 NA19011.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0062a0002c0003t0001g0063a0002c0003t0001g0064 | 3 | 382 | 0.0079 | -4 | c.-18 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77849762 | ATCTT | A | intron_variant | MODIFIER | NA18970.hp1 NA18973.hp2 NA18999.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0147a0001c0001t0001g0177others(2): Show | 5 | 382 | 0.0131 | -4 | c.132 others(21): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77869502 | ACGGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0019others(153): Show | 160 | 382 | 0.4189 | -4 | c.133 others(19): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77877255 | GTTAA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0292a0001c0001t0001g0342a0001c0001t0001g0343others(156): Show | 163 | 382 | 0.4267 | -4 | c.*49 others(15): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 4904 | chr11 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36232816 | CCTCT | C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02004.hp1 HG02148.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0020others(4): Show | 8 | 298 | 0.0269 | -4 | c.-37 others(15): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3661 | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36261577 | GGTAA | G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01261.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(21): Show | 28 | 298 | 0.0940 | -4 | c.*58 others(15): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4645 | chr20 | TogoVar | ||||||
AARD_chr8_116933207_116949487 | 116934761 | ATTTG | A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 3 | 442 | 0.0068 | -4 | c.-34 others(15): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3445 | chr8 | TogoVar | ||||||
AARD_chr8_116933207_116949487 | 116941032 | GTTAA | G | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 HG03209.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013a0002c0002t0001g0037 | 5 | 442 | 0.0113 | -4 | c.325 others(21): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AARD_chr8_116933207_116949487 | 116947669 | TCTAA | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0006g0003a0001c0001t0008g0003 | 34 | 442 | 0.0769 | -4 | c.*49 others(15): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 3183 | chr8 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70262967 | CAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02647.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0348a0002c0004t0001g0349a0002c0004t0001g0350others(4): Show | 7 | 362 | 0.0193 | -4 | c.149 others(21): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272506 | CAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0323others(3): Show | 7 | 362 | 0.0193 | -4 | c.480 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70275936 | CAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02723.hp1 others(8): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(8): Show | 11 | 362 | 0.0304 | -4 | c.479 others(19): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44299259 | CTTCT | C | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp2 others(2): Show |
a0001a0009 | a0001c0002a0009c0015 | a0001c0002t0007a0009c0015t0007 | a0001c0002t0007g0014a0009c0015t0007g0079 | 5 | 396 | 0.0126 | -4 | c.*12 others(15): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 1284 | chr6 | TogoVar | |||||
AARSD1_chr17_42945526_42969454 | 42945677 | CAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(259): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(119): Show | 262 | 324 | 0.8086 | -4 | c.*49 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4848 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967214 | TAATA | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02698.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(2): Show | 12 | 324 | 0.0370 | -4 | c.-27 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2761 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967249 | TAATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(66): Show | 154 | 324 | 0.4753 | -4 | c.-28 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2796 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967430 | TGTAG | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(17): Show | 29 | 324 | 0.0895 | -4 | c.-29 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2977 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42969401 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(106): Show | 235 | 324 | 0.7253 | -4 | c.-49 others(15): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4948 | chr17 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106090894 | GTACT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(187): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(51): Show | 190 | 404 | 0.4703 | -4 | c.531 others(19): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDH_chr4_56333290_56392491 | 56335003 | CTTCT | C | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02083.hp1 NA18966.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0243a0003c0003t0002g0244a0003c0003t0002g0245others(1): Show | 4 | 382 | 0.0105 | -4 | c.*33 others(15): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3286 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56336849 | GAGGC | G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG03225.hp1 HG03942.hp2 others(1): Show |
a0004a0005 | a0004c0004a0005c0007 | a0004c0004t0001a0005c0007t0003 | a0004c0004t0001g0132a0004c0004t0001g0133a0005c0007t0003g0033others(1): Show | 4 | 382 | 0.0105 | -4 | c.*15 others(15): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1440 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56343365 | CATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(252): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(22): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(224): Show | 255 | 382 | 0.6675 | -4 | c.277 others(21): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56391476 | GAAGT | G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01106.hp1 others(64): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0023others(56): Show | 67 | 382 | 0.1754 | -4 | c.-41 others(15): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3986 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56392015 | AAAAG | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02630.hp1 others(9): Show |
a0003a0005a0018 | a0003c0003a0005c0007a0018c0023 | a0003c0003t0002a0005c0007t0003a0018c0023t0002 | a0003c0003t0002g0003a0003c0003t0002g0042a0005c0007t0003g0035others(6): Show | 12 | 382 | 0.0314 | -4 | c.-47 others(15): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4525 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122139948 | TCAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(280): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(237): Show | 283 | 384 | 0.7370 | -4 | c.-16 others(21): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 36958155 | CTCTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0039others(12): Show | 15 | 245 | 0.0612 | -4 | c.832 others(21): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37001405 | GAGGA | G | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01261.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0026a0001c0001t0001g0038others(31): Show | 34 | 245 | 0.1388 | -4 | c.139 others(25): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37017870 | AATTT | A | intron_variant | MODIFIER | HG02300.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0189 | 2 | 245 | 0.0082 | -4 | c.139 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37022113 | CGTGT | C | intron_variant | MODIFIER | HG00735.hp1 HG01981.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0074a0001c0001t0001g0168a0001c0001t0004g0244others(2): Show | 5 | 245 | 0.0204 | -4 | c.154 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37022149 | TGTGA | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0096others(29): Show | 33 | 245 | 0.1347 | -4 | c.154 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37046730 | AACAC | A | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0002 | a0001c0001t0001g0022a0001c0001t0001g0067a0001c0001t0001g0214others(2): Show | 5 | 245 | 0.0204 | -4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37051675 | AAGAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01109.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0022others(19): Show | 22 | 245 | 0.0898 | -4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |