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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AARS1_chr16_70247298_70294506 | 70289757 | G | GC | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(70): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0012others(69): Show | 73 | 362 | 0.2017 | 1 | c.-35 others(5): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 252 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70291979 | T | TA | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0113a0001c0002t0001g0001a0001c0002t0001g0148others(5): Show | 9 | 362 | 0.0249 | 1 | c.-25 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2474 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70292286 | G | GC | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show |
a0002a0005 | a0002c0004a0005c0009 | a0002c0004t0001a0005c0009t0001 | a0002c0004t0001g0335a0002c0004t0001g0337a0002c0004t0001g0338others(22): Show | 25 | 362 | 0.0691 | 1 | c.-28 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2781 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70293453 | G | GA | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02258.hp2 HG02738.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0090a0001c0001t0001g0112others(6): Show | 9 | 362 | 0.0249 | 1 | c.-40 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3948 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | AT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0065a0001c0001t0001g0116a0001c0001t0002g0243others(80): Show | 83 | 362 | 0.2293 | 1 | c.-41 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70294072 | A | AT | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01346.hp2 HG02055.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0095a0001c0002t0001g0162others(12): Show | 15 | 362 | 0.0414 | 1 | c.-46 others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4567 | chr16 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44294772 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(41): Show | 168 | 396 | 0.4242 | 1 | c.*57 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 3958 | chr6 | TogoVar | ||||||
AARS2_chr6_44293731_44318347 | 44299434 | C | CT | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG02451.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0016a0001c0002t0010a0001c0017t0020others(1): Show | a0001c0001t0016g0057a0001c0002t0010g0038a0001c0017t0020g0054others(1): Show | 8 | 396 | 0.0202 | 1 | c.*11 others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 1112 | 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 | 44315028 | C | CT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(56): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0006g0009others(10): Show | 59 | 396 | 0.1490 | 1 | c.-17 others(12): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 1682 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42945640 | T | TA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(74): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(35): Show | 77 | 324 | 0.2377 | 1 | c.*49 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4885 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42946659 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(151): Show | 323 | 324 | 0.9969 | 1 | c.*39 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3866 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42947862 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(81): Show | 180 | 324 | 0.5556 | 1 | c.*27 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2663 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42954432 | C | CT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(80): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(40): Show | 83 | 324 | 0.2562 | 1 | c.953 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42955436 | C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(101): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0017others(34): Show | 104 | 324 | 0.3210 | 1 | c.795 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 7/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42956966 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(124): Show | 289 | 324 | 0.8920 | 1 | c.389 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42957476 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(67): Show | 175 | 324 | 0.5401 | 1 | c.332 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42959196 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(57): Show | 118 | 324 | 0.3642 | 1 | c.331 others(9): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42960721 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02056.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0002t0001a0003c0003t0001 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0141others(10): Show | 22 | 324 | 0.0679 | 1 | c.331 others(8): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965425 | C | CA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0033others(3): Show | 6 | 324 | 0.0185 | 1 | c.-98 others(10): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 972 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965447 | A | AG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01943.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019 | 12 | 324 | 0.0370 | 1 | c.-10 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 994 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(38): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0007 | a0001c0001t0001a0001c0002t0001a0008c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(25): Show | 41 | 324 | 0.1265 | 1 | c.-15 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967226 | T | TG | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02698.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(2): Show | 12 | 324 | 0.0370 | 1 | c.-27 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2773 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967227 | A | AT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03225.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0073others(2): Show | 5 | 324 | 0.0154 | 1 | c.-27 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2774 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967237 | T | TG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03225.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0073others(2): Show | 5 | 324 | 0.0154 | 1 | c.-27 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2784 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967243 | A | AT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG03225.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0073others(2): Show | 5 | 324 | 0.0154 | 1 | c.-28 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2790 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967261 | T | TG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(66): Show | 154 | 324 | 0.4753 | 1 | c.-28 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2808 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967307 | T | TG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(66): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(32): Show | 69 | 324 | 0.2130 | 1 | c.-28 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2854 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967313 | A | AT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(69): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(35): Show | 72 | 324 | 0.2222 | 1 | c.-28 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2860 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967323 | A | AT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG02698.hp1 others(10): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(3): Show | 13 | 324 | 0.0401 | 1 | c.-28 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2870 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967342 | T | TG | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | 1 | c.-29 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2889 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967348 | A | AT | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | 1 | c.-29 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2895 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967358 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(66): Show | 151 | 324 | 0.4661 | 1 | c.-29 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2905 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967430 | T | TA | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02015.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(5): Show | 10 | 324 | 0.0309 | 1 | c.-29 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2977 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967534 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(76): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(40): Show | 79 | 324 | 0.2438 | 1 | c.-30 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3081 | chr17 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967537 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(76): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(40): Show | 79 | 324 | 0.2438 | 1 | c.-30 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3084 | chr17 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106073258 | C | CT | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01256.hp2 HG01515.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(13): Show | 25 | 404 | 0.0619 | 1 | c.-44 others(12): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4403 | chr11 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106074121 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(52): Show | 183 | 404 | 0.4530 | 1 | c.-35 others(12): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 3540 | chr11 | TogoVar | ||||||
AASDHPPT_chr11_106072662_106103695 | 106084160 | G | GA | intron_variant | MODIFIER | HG02630.hp2 NA18981.hp1 NA18991.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0099a0001c0001t0002g0060others(3): Show | 6 | 404 | 0.0149 | 1 | c.409 others(9): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106092759 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00733.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0069others(17): Show | 57 | 404 | 0.1411 | 1 | c.693 others(9): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106093921 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(48): Show | 187 | 404 | 0.4629 | 1 | c.694 others(8): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106094144 | T | TA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(43): Show | 124 | 404 | 0.3069 | 1 | c.694 others(8): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AASDHPPT_chr11_106072662_106103695 | 106097037 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004a0001c0001t0004g0070a0001c0001t0004g0071others(4): Show | 27 | 404 | 0.0668 | 1 | c.*14 others(5): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | 142 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
AASDH_chr4_56333290_56392491 | 56339162 | A | AT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(95): Show |
a0002a0003a0006others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(84): Show | 98 | 382 | 0.2565 | 1 | c.290 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56339748 | C | CA | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(22): Show |
a0002a0006a0016 | a0002c0002a0006c0020a0016c0018 | a0002c0002t0001a0006c0020t0001a0016c0018t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(19): Show | 25 | 382 | 0.0655 | 1 | c.290 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00735.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0006others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(8): Show | a0001c0001t0001g0080a0001c0001t0001g0083a0001c0001t0001g0095others(81): Show | 96 | 382 | 0.2513 | 1 | c.290 others(10): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56341559 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(138): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0069a0001c0001t0001g0071others(125): Show | 141 | 382 | 0.3691 | 1 | c.290 others(10): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56342110 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(62): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(7): Show | a0001c0001t0001g0068a0001c0001t0001g0080a0001c0001t0001g0125others(53): Show | 65 | 382 | 0.1702 | 1 | c.290 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56344940 | C | CT | intron_variant | MODIFIER | HG00438.hp2 HG01261.hp1 HG01891.hp1 others(7): Show |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0012 | a0001c0001t0001a0004c0004t0001a0009c0012t0001 | a0001c0001t0001g0063a0001c0001t0001g0082a0001c0001t0001g0283others(6): Show | 10 | 382 | 0.0262 | 1 | c.265 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56347040 | T | TA | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0157a0001c0001t0001g0166a0001c0010t0001g0280others(15): Show | 18 | 382 | 0.0471 | 1 | c.248 others(10): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | chr4 | TogoVar |