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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS2_chr6_44293731_44318347 | 44311374 | A | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(117): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0024others(26): Show | 120 | 396 | 0.3030 | 0 | c.581 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 3/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311562 | G | C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0072 | 1 | 396 | 0.0025 | 0 | c.436 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311565 | G | GA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp1 others(22): Show |
a0001a0008a0011 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0005a0001c0001t0023a0001c0002t0002others(3): Show | a0001c0001t0005g0004a0001c0001t0023g0083a0001c0002t0002g0035others(3): Show | 25 | 396 | 0.0631 | 1 | c.436 others(14): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311572 | C | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(117): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0024others(26): Show | 120 | 396 | 0.3030 | 0 | c.436 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311675 | T | C | intron_variant | MODIFIER | HG01891.hp1 HG02922.hp1 HG03225.hp1 |
a0008a0011 | a0008c0009a0011c0013 | a0008c0009t0012a0011c0013t0021 | a0008c0009t0012g0033a0011c0013t0021g0078 | 3 | 396 | 0.0076 | 0 | c.436 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311699 | T | C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 396 | 0.0025 | 0 | c.436 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311831 | G | A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 396 | 0.0025 | 0 | c.435 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44311848 | T | G | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0031 | 2 | 396 | 0.0051 | 0 | c.435 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312030 | T | C | intron_variant | MODIFIER | HG03942.hp1 HG04199.hp1 |
a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0041 | 2 | 396 | 0.0051 | 0 | c.435 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312266 | G | A | splice_region_variant others(1): Show |
LOW | HG02257.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0076 | 1 | 396 | 0.0025 | 0 | c.244 others(5): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312304 | A | G | intron_variant | MODIFIER | NA18948.hp2 NA19058.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0032 | 2 | 396 | 0.0051 | 0 | c.244 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312480 | G | A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 396 | 0.0025 | 0 | c.244 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312544 | T | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(228): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(21): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0022others(53): Show | 231 | 396 | 0.5833 | 0 | c.244 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312581 | T | A | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 396 | 0.0025 | 0 | c.244 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312739 | A | C | intron_variant | MODIFIER | HG01069.hp1 HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 396 | 0.0076 | 0 | c.243 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312872 | C | T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 396 | 0.0025 | 0 | c.243 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312884 | G | A | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0097 | 1 | 396 | 0.0025 | 0 | c.243 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312900 | C | T | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0015a0001c0002t0002g0073a0001c0002t0003g0003others(7): Show | 53 | 396 | 0.1338 | 0 | c.243 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44312930 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp1 HG01928.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0043 | 4 | 396 | 0.0101 | 0 | c.243 others(7): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44313075 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(146): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0017others(9): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0020others(33): Show | 149 | 396 | 0.3763 | 0 | c.243 others(5): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42950808 | C | T | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0044 | 3 | 324 | 0.0093 | 0 | c.110 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42950837 | G | A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 324 | 0.0031 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42950878 | G | A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 324 | 0.0031 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42950988 | G | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0131 | 2 | 324 | 0.0062 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951334 | T | C | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 324 | 0.0031 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951350 | G | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0023a0001c0002t0001g0024others(4): Show | 16 | 324 | 0.0494 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951512 | G | A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 324 | 0.0031 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951530 | A | G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0070a0001c0001t0001g0071 | 6 | 324 | 0.0185 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951535 | C | G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00741.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0020others(7): Show | 26 | 324 | 0.0803 | 0 | c.110 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 11/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951921 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(143): Show | 314 | 324 | 0.9691 | 0 | c.100 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42951930 | GA | G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0070a0001c0001t0001g0071 | 6 | 324 | 0.0185 | -1 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952095 | G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(182): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 185 | 324 | 0.5710 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952167 | C | G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952239 | C | T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952351 | C | T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952466 | C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(137): Show | 307 | 324 | 0.9475 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952584 | T | A | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0133 | 2 | 324 | 0.0062 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952647 | G | A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952733 | C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(130): Show | 291 | 324 | 0.8982 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952740 | G | A | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952875 | G | A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42952883 | G | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0099 | 2 | 324 | 0.0062 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953200 | G | A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953400 | G | A | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953440 | G | A | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 2 | 324 | 0.0062 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953622 | C | T | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 324 | 0.0031 | 0 | c.100 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953688 | T | C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 324 | 0.0031 | 0 | c.100 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953695 | C | T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 324 | 0.0031 | 0 | c.100 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 10/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42953935 | A | C | intron_variant | MODIFIER | HG01243.hp1 HG03486.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0119a0004c0005t0001g0150 | 2 | 324 | 0.0062 | 0 | c.954 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42954068 | T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(175): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(76): Show | 178 | 324 | 0.5494 | 0 | c.954 others(7): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | chr17 | TogoVar |