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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AANAT_chr17_76462603_76475117 | 76464341 | TA | T | upstream_gene_variant | MODIFIER | HG02523.hp2 HG02735.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
6 | 299 | 0.0201 | -1 | c.-34 others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 3261 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76464799 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(2): Show |
9 | 261 | 0.0345 | -1 | c.-30 others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2803 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76465344 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(169): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(17): Show |
172 | 275 | 0.6255 | -1 | c.-24 others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2258 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76466152 | GA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(2): Show |
7 | 424 | 0.0165 | -1 | c.-16 others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 1450 | chr17 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76470307 | TG | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
25 | 297 | 0.0842 | -1 | c.*33 others(5): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 191 | chr17 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36232090 | CT | C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0161 others(1): Show |
6 | 296 | 0.0203 | -1 | c.-44 others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4387 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36238755 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00558.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0101 others(5): Show |
9 | 289 | 0.0311 | -1 | c.-48 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36242143 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(124): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(75): Show |
127 | 276 | 0.4601 | -1 | c.757 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36242854 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00639.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0001t0001g0045 others(10): Show |
16 | 241 | 0.0664 | -1 | c.758 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36248337 | CT | C | intron_variant | MODIFIER | HG01167.hp1 HG01515.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0007 | a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0137 others(3): Show |
6 | 283 | 0.0212 | -1 | c.987 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36248882 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG01169.hp1 HG01256.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0002t0002a0004c0008t0001 | a0001c0001t0001g0046 a0001c0001t0001g0073 a0001c0001t0001g0103 others(3): Show |
6 | 296 | 0.0203 | -1 | c.987 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36251195 | CA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0002t0004others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0134 a0001c0001t0001g0136 others(9): Show |
15 | 294 | 0.0510 | -1 | c.988 others(9): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AAR2_chr20_36231478_36261933 | 36260717 | AT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(54): Show |
80 | 229 | 0.3493 | -1 | c.*49 others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3785 | chr20 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36261568 | AC | A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01261.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show |
20 | 296 | 0.0676 | -1 | c.*58 others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 4636 | chr20 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116933289 | AC | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02818.hp2 HG03098.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0004g0003 others(3): Show |
7 | 440 | 0.0159 | -1 | c.-49 others(6): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 4917 | chr8 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116942190 | TA | T | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp2 HG02886.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0015a0001c0004t0001 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0015g0027 others(2): Show |
11 | 440 | 0.0250 | -1 | c.325 others(8): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
AARD_chr8_116933207_116949487 | 116942999 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 others(7): Show |
28 | 410 | 0.0683 | -1 | c.*32 others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 2/2 | 320 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AARS1_chr16_70247298_70294506 | 70248771 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(117): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(117): Show |
120 | 300 | 0.4000 | -1 | c.*39 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3526 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70249012 | TG | T | downstream_gene_variant | MODIFIER | HG02015.hp1 HG03927.hp1 NA18949.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0023 others(4): Show |
7 | 360 | 0.0194 | -1 | c.*37 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3285 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70249014 | TA | T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01496.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0104 a0001c0002t0001g0002 others(32): Show |
36 | 261 | 0.1379 | -1 | c.*37 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3283 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70250666 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(250): Show |
255 | 340 | 0.7500 | -1 | c.*20 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1631 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70255194 | AT | A | intron_variant | MODIFIER | HG00558.hp1 HG01071.hp1 HG02015.hp1 others(24): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0007c0017others(2): Show | a0001c0001t0001a0001c0002t0001a0007c0017t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(24): Show |
27 | 215 | 0.1256 | -1 | c.228 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 16/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70258798 | GC | G | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0004g0150 others(1): Show |
5 | 360 | 0.0139 | -1 | c.199 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 14/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(50): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0169 others(47): Show |
53 | 129 | 0.4109 | -1 | c.149 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70263570 | CA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0003g0320 others(4): Show |
8 | 359 | 0.0223 | -1 | c.149 others(10): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70269322 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(17): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0019others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0019t0001others(2): Show | a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0210 others(17): Show |
20 | 57 | 0.3509 | -1 | c.962 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70270837 | CA | C | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02818.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0120 others(9): Show |
12 | 340 | 0.0353 | -1 | c.672 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 5/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70272506 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(103): Show |
106 | 222 | 0.4775 | -1 | c.480 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70274175 | GA | G | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG02818.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0002c0004t0001a0003c0005t0001 | a0001c0001t0001g0029 a0001c0001t0001g0079 a0002c0004t0001g0355 others(3): Show |
6 | 356 | 0.0169 | -1 | c.480 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275125 | TG | T | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0004g0150 others(1): Show |
5 | 360 | 0.0139 | -1 | c.479 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70275936 | CA | C | intron_variant | MODIFIER | HG01993.hp2 HG02735.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0258 others(3): Show |
6 | 146 | 0.0411 | -1 | c.479 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70277758 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG01943.hp1 HG02698.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0137 a0001c0002t0001g0163 others(7): Show |
10 | 354 | 0.0282 | -1 | c.145 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70278804 | GA | G | intron_variant | MODIFIER | NA18949.hp1 NA18990.hp2 NA18998.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 a0001c0002t0001g0217 a0001c0002t0001g0282 others(2): Show |
5 | 360 | 0.0139 | -1 | c.145 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70279350 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(110): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0132 a0001c0002t0001g0001 others(107): Show |
113 | 267 | 0.4232 | -1 | c.145 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70286362 | AT | A | intron_variant | MODIFIER | HG01069.hp1 HG02647.hp1 HG02895.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0135 a0001c0001t0001g0330 others(8): Show |
11 | 307 | 0.0358 | -1 | c.-22 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70287254 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(60): Show |
a0001a0002a0010 | a0001c0001a0001c0007a0001c0013others(3): Show | a0001c0001t0001a0001c0007t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0065 others(60): Show |
63 | 132 | 0.4773 | -1 | c.-22 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70288098 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(136): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(135): Show |
139 | 236 | 0.5890 | -1 | c.-22 others(9): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70288565 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(252): Show |
259 | 326 | 0.7945 | -1 | c.-22 others(8): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70290525 | CA | C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02055.hp2 HG02109.hp1 others(10): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0001g0281 others(9): Show |
13 | 359 | 0.0362 | -1 | c.-11 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1020 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70294072 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(220): Show |
225 | 317 | 0.7098 | -1 | c.-46 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4567 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44298350 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(142): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0020a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(26): Show |
145 | 393 | 0.3690 | -1 | c.*21 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 380 | chr6 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44299262 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(76): Show |
352 | 394 | 0.8934 | -1 | c.*12 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 1284 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44317783 | AT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(80): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0027 others(27): Show |
83 | 391 | 0.2123 | -1 | c.-44 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 4437 | chr6 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44318171 | AT | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0009 | a0001c0001t0001a0002c0003t0004a0007c0009t0012 | a0001c0001t0001g0008 a0002c0003t0004g0010 a0007c0009t0012g0033 |
4 | 394 | 0.0102 | -1 | c.-48 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 4825 | chr6 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42945640 | TA | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0109 a0001c0002t0001g0008 a0001c0002t0001g0023 others(5): Show |
17 | 245 | 0.0694 | -1 | c.*49 others(6): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4885 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42948680 | GA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show |
201 | 322 | 0.6242 | -1 | c.*19 others(6): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1845 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42951930 | GA | G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0071 |
6 | 322 | 0.0186 | -1 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42957476 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(26): Show |
56 | 122 | 0.4590 | -1 | c.332 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42959669 | CT | C | intron_variant | MODIFIER | HG00738.hp1 NA18939.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0110 a0001c0001t0001g0111 others(3): Show |
6 | 322 | 0.0186 | -1 | c.331 others(9): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42961114 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(180): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(79): Show |
183 | 322 | 0.5683 | -1 | c.331 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar |