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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAMDC_chr11_77816144_77877352 | 77870329 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0118a0001c0001t0001g0128others(80): Show | 85 | 382 | 0.2225 | -1 | c.228 others(8): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77876745 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(53): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0013others(51): Show | 56 | 382 | 0.1466 | -1 | c.*44 others(6): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 4394 | chr11 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218268694 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(184): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(23): Show | 187 | 400 | 0.4675 | -1 | c.274 others(8): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218273446 | GT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(170): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(25): Show | 173 | 400 | 0.4325 | -1 | c.-33 others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3310 | chr2 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76464341 | TA | T | upstream_gene_variant | MODIFIER | HG02523.hp2 HG02735.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007 | 6 | 426 | 0.0141 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(2): Show | 9 | 426 | 0.0211 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(17): Show | 172 | 426 | 0.4038 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(2): Show | 7 | 426 | 0.0164 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(3): Show | 25 | 426 | 0.0587 | -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 | a0001c0002t0002g0036a0001c0002t0002g0037a0001c0002t0002g0183others(1): Show | 6 | 298 | 0.0201 | -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 | a0001c0001t0001g0057a0001c0001t0001g0114a0001c0001t0001g0115others(6): Show | 9 | 298 | 0.0302 | -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 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(84): Show | 127 | 298 | 0.4262 | -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 | a0001c0001t0001g0010a0001c0001t0001g0040a0001c0001t0001g0054others(10): Show | 16 | 298 | 0.0537 | -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 | a0001c0001t0001g0084a0001c0001t0001g0108a0001c0001t0001g0157others(3): Show | 6 | 298 | 0.0201 | -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 | a0001c0001t0001g0047a0001c0001t0001g0079a0001c0001t0001g0118others(3): Show | 6 | 298 | 0.0201 | -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 | a0001c0001t0001g0085a0001c0001t0001g0150a0001c0001t0001g0152others(9): Show | 15 | 298 | 0.0503 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(58): Show | 80 | 298 | 0.2685 | -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 |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(13): Show | 20 | 298 | 0.0671 | -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 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0004g0003others(3): Show | 7 | 442 | 0.0158 | -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 | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0015g0027others(2): Show | 11 | 442 | 0.0249 | -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 | a0001c0001t0003g0001a0001c0001t0003g0003a0001c0001t0003g0004others(7): Show | 28 | 442 | 0.0634 | -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(118): Show |
a0001a0006a0009others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(118): Show | 121 | 362 | 0.3343 | -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 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0015others(4): Show | 7 | 362 | 0.0193 | -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 | a0001c0001t0001g0061a0001c0001t0001g0105a0001c0002t0001g0001others(32): Show | 36 | 362 | 0.0995 | -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(253): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(252): Show | 256 | 362 | 0.7072 | -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 |
a0001a0006a0007others(1): Show | a0001c0001a0001c0002a0006c0018others(2): Show | a0001c0001t0001a0001c0002t0001a0006c0018t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(24): Show | 27 | 362 | 0.0746 | -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 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0004g0149others(1): Show | 5 | 362 | 0.0138 | -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 |
a0001a0004a0011 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0161others(49): Show | 53 | 362 | 0.1464 | -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 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0003g0322others(4): Show | 8 | 362 | 0.0221 | -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 |
a0001a0002a0008 | a0001c0002a0001c0003a0001c0019others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0019t0001others(2): Show | a0001c0002t0001g0188a0001c0002t0001g0219a0001c0002t0001g0224others(17): Show | 20 | 362 | 0.0553 | -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 | a0001c0001t0001g0021a0001c0001t0001g0031a0001c0001t0001g0118others(9): Show | 12 | 362 | 0.0332 | -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(104): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(104): Show | 107 | 362 | 0.2956 | -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 | a0001c0001t0001g0028a0001c0001t0001g0083a0002c0004t0001g0357others(3): Show | 6 | 362 | 0.0166 | -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 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0004g0149others(1): Show | 5 | 362 | 0.0138 | -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 | a0001c0002t0001g0210a0001c0002t0001g0239a0001c0002t0001g0241others(3): Show | 6 | 362 | 0.0166 | -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 | a0001c0001t0001g0062a0001c0001t0001g0134a0001c0002t0001g0175others(7): Show | 10 | 362 | 0.0276 | -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 | a0001c0002t0001g0163a0001c0002t0001g0276a0001c0002t0001g0301others(2): Show | 5 | 362 | 0.0138 | -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 | a0001c0001t0001g0082a0001c0001t0001g0129a0001c0002t0001g0002others(109): Show | 113 | 362 | 0.3122 | -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 | a0001c0001t0001g0023a0001c0001t0001g0132a0001c0001t0001g0332others(8): Show | 11 | 362 | 0.0304 | -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 | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0064others(60): Show | 63 | 362 | 0.1740 | -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(137): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(136): Show | 140 | 362 | 0.3867 | -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(257): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(255): Show | 260 | 362 | 0.7182 | -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 | a0001c0002t0001g0001a0001c0002t0001g0148a0001c0002t0001g0207others(9): Show | 13 | 362 | 0.0359 | -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 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(221): Show | 225 | 362 | 0.6216 | -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(143): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0020a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(27): Show | 146 | 396 | 0.3687 | -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(350): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(77): Show | 353 | 396 | 0.8914 | -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 |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0027others(27): Show | 83 | 396 | 0.2096 | -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 |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0009 | a0001c0001t0001a0002c0003t0004a0008c0009t0012 | a0001c0001t0001g0008a0002c0003t0004g0010a0008c0009t0012g0033 | 4 | 396 | 0.0101 | -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 | a0001c0001t0001g0109a0001c0002t0001g0008a0001c0002t0001g0023others(5): Show | 17 | 324 | 0.0525 | -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 |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(102): Show | 201 | 324 | 0.6204 | -1 | c.*19 others(6): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1845 | chr17 | TogoVar |