view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | a0001c0001t0005a0001c0001t0010a0001c0001t0024others(8): Show | a0001c0001t0005g0254 a0001c0001t0010g0195 a0001c0001t0010g0205 others(14): Show |
17 | 193 | 0.0881 | -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 | a0001c0001t0059a0001c0009t0120a0001c0009t0136 | a0001c0001t0059g0288 a0001c0009t0120g0179 a0001c0009t0136g0191 |
3 | 296 | 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 | a0001c0003t0077a0001c0003t0103a0001c0003t0104others(4): Show | a0001c0003t0077g0099 a0001c0003t0103g0136 a0001c0003t0104g0168 others(4): Show |
7 | 141 | 0.0496 | -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 |
a0002 | a0002c0002a0002c0015a0002c0023others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(38): Show | a0002c0002t0002g0018 a0002c0002t0002g0052 a0002c0002t0002g0060 others(84): Show |
87 | 150 | 0.5800 | -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 | a0002c0002t0003a0002c0002t0040 | a0002c0002t0003g0041 a0002c0002t0003g0057 a0002c0002t0040g0042 |
3 | 296 | 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 | a0001c0001t0012a0001c0001t0074a0001c0003t0076others(16): Show | a0001c0001t0012g0059 a0001c0001t0012g0073 a0001c0001t0012g0079 others(20): Show |
23 | 262 | 0.0878 | -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 | a0001c0006t0028a0001c0006t0037a0001c0006t0038 | a0001c0006t0028g0123 a0001c0006t0028g0132 a0001c0006t0037g0009 others(1): Show |
4 | 296 | 0.0135 | -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 | a0001c0001t0002a0001c0001t0041a0001c0001t0059others(4): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0041g0287 others(5): Show |
8 | 296 | 0.0270 | -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(7): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(2): Show | a0001c0001t0002a0001c0001t0083a0001c0004t0009others(5): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0083g0145 others(7): Show |
10 | 267 | 0.0375 | -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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0021others(48): Show | a0001c0001t0002g0051 a0001c0001t0002g0078 a0001c0001t0012g0059 others(78): Show |
81 | 295 | 0.2746 | -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 | a0001c0001t0112a0002c0005t0117a0002c0005t0118others(2): Show | a0001c0001t0112g0189 a0002c0005t0117g0182 a0002c0005t0118g0183 others(2): Show |
5 | 296 | 0.0169 | -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 |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(30): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(59): Show |
62 | 296 | 0.2095 | -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 | a0001c0001t0012a0001c0009t0014a0001c0009t0120others(1): Show | a0001c0001t0012g0059 a0001c0009t0014g0190 a0001c0009t0120g0179 others(1): Show |
4 | 296 | 0.0135 | -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 |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(30): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0218 others(59): Show |
62 | 296 | 0.2095 | -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 | a0001c0001t0087a0001c0003t0042a0003c0020t0079others(1): Show | a0001c0001t0087g0164 a0001c0003t0042g0100 a0003c0020t0079g0105 others(1): Show |
4 | 188 | 0.0213 | -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 | a0001c0001t0002a0001c0001t0074a0001c0001t0078others(12): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0074g0053 others(15): Show |
18 | 91 | 0.1978 | -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 | a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0233 others(7): Show |
10 | 314 | 0.0318 | -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 | a0001c0001t0001g0199 a0001c0001t0001g0310 a0001c0001t0001g0311 others(5): Show |
8 | 136 | 0.0588 | -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 | a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0062 |
3 | 380 | 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 | a0001c0001t0001g0126 a0001c0001t0001g0148 a0001c0001t0001g0175 others(2): Show |
5 | 380 | 0.0132 | -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 | a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0023 others(152): Show |
160 | 380 | 0.4211 | -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 | a0001c0001t0001g0290 a0001c0001t0001g0334 a0001c0001t0001g0335 others(155): Show |
163 | 380 | 0.4289 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0021 others(4): Show |
8 | 155 | 0.0516 | -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 |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(21): Show |
28 | 296 | 0.0946 | -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 | 440 | 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 | a0002c0002t0001g0013 a0002c0002t0001g0037 |
5 | 440 | 0.0114 | -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 | a0001c0001t0001g0003 a0001c0001t0006g0003 a0001c0001t0008g0003 |
34 | 440 | 0.0773 | -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 | a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 others(4): Show |
7 | 83 | 0.0843 | -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 | a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0003g0321 others(3): Show |
7 | 123 | 0.0569 | -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 |
a0002a0009 | a0002c0004a0009c0009 | a0002c0004t0001a0009c0009t0001 | a0002c0004t0001g0333 a0002c0004t0001g0335 a0002c0004t0001g0336 others(8): Show |
11 | 151 | 0.0728 | -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 |
a0001a0012 | a0001c0002a0012c0015 | a0001c0002t0007a0012c0015t0007 | a0001c0002t0007g0014 a0012c0015t0007g0079 |
5 | 394 | 0.0127 | -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(258): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(119): Show |
261 | 277 | 0.9422 | -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(8): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(2): Show |
11 | 322 | 0.0342 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(66): Show |
154 | 310 | 0.4968 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(17): Show |
29 | 307 | 0.0945 | -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(231): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show |
234 | 253 | 0.9249 | -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(186): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(51): Show |
189 | 402 | 0.4701 | -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 | a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 others(1): Show |
4 | 380 | 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 | a0004c0004t0001g0132 a0004c0004t0001g0133 a0005c0007t0003g0033 others(1): Show |
4 | 380 | 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(251): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(22): Show | a0001c0001t0001g0125 a0001c0001t0001g0166 a0001c0005t0001g0011 others(223): Show |
254 | 344 | 0.7384 | -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 |
a0002a0009a0010others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0023 others(56): Show |
67 | 380 | 0.1763 | -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 |
a0003a0005a0012 | a0003c0003a0005c0007a0012c0023 | a0003c0003t0002a0005c0007t0003a0012c0023t0002 | a0003c0003t0002g0003 a0003c0003t0002g0042 a0005c0007t0003g0035 others(6): Show |
12 | 380 | 0.0316 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(237): Show |
283 | 379 | 0.7467 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 others(12): Show |
15 | 244 | 0.0615 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0038 others(31): Show |
34 | 149 | 0.2282 | -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 | a0001c0001t0001g0059 a0001c0001t0001g0192 |
2 | 244 | 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 | a0001c0001t0001g0074 a0001c0001t0001g0168 a0001c0001t0004g0244 others(2): Show |
5 | 92 | 0.0543 | -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 |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0096 others(29): Show |
33 | 244 | 0.1352 | -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 | a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0001g0214 others(2): Show |
5 | 105 | 0.0476 | -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 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0022 others(19): Show |
22 | 244 | 0.0902 | -4 | c.162 others(23): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |