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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0131 others(6): Show |
9 | 359 | 0.0251 | 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 | a0001c0001t0001g0071 a0001c0001t0001g0118 a0001c0001t0002g0262 others(79): Show |
83 | 172 | 0.4826 | 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 | a0001c0001t0001g0068 a0001c0001t0001g0091 a0001c0002t0001g0170 others(12): Show |
15 | 107 | 0.1402 | 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(164): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(40): Show |
167 | 257 | 0.6498 | 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 |
a0001a0006 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0016a0001c0002t0010a0001c0017t0021others(1): Show | a0001c0001t0016g0057 a0001c0002t0010g0038 a0001c0017t0021g0054 others(1): Show |
8 | 391 | 0.0205 | 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 |
a0001a0007a0011 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0005a0001c0001t0024a0001c0002t0002others(3): Show | a0001c0001t0005g0004 a0001c0001t0024g0083 a0001c0002t0002g0035 others(3): Show |
25 | 394 | 0.0635 | 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 |
a0001a0005 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0006g0009 others(10): Show |
59 | 394 | 0.1497 | 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 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(35): Show |
77 | 305 | 0.2525 | 1 | c.*49 others(12): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4885 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42947862 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
179 | 301 | 0.5947 | 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 |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(40): Show |
83 | 322 | 0.2578 | 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(100): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(34): Show |
103 | 311 | 0.3312 | 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(285): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(124): Show |
288 | 309 | 0.9320 | 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(171): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(67): Show |
174 | 240 | 0.7250 | 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 |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(57): Show |
118 | 309 | 0.3819 | 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 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0141 others(10): Show |
22 | 319 | 0.0690 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0033 others(3): Show |
6 | 142 | 0.0423 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0019 |
12 | 215 | 0.0558 | 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 |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0002t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(25): Show |
41 | 80 | 0.5125 | 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(8): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(2): Show |
11 | 321 | 0.0343 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(2): Show |
5 | 311 | 0.0161 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(2): Show |
5 | 157 | 0.0318 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0073 others(2): Show |
5 | 321 | 0.0156 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(66): Show |
154 | 322 | 0.4783 | 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 |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(32): Show |
69 | 316 | 0.2184 | 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 |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(35): Show |
72 | 322 | 0.2236 | 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(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(3): Show |
12 | 166 | 0.0723 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(5): Show |
10 | 315 | 0.0317 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(5): Show |
10 | 316 | 0.0316 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(66): Show |
151 | 321 | 0.4704 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 others(5): Show |
10 | 288 | 0.0347 | 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 |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(40): Show |
79 | 322 | 0.2453 | 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 |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(40): Show |
79 | 111 | 0.7117 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(13): Show |
25 | 186 | 0.1344 | 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(179): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(52): Show |
182 | 399 | 0.4561 | 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 | a0001c0001t0001g0077 a0001c0001t0001g0100 a0001c0001t0002g0061 others(3): Show |
6 | 402 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0070 others(17): Show |
57 | 402 | 0.1418 | 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(183): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(48): Show |
186 | 402 | 0.4627 | 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 | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0015 others(43): Show |
124 | 402 | 0.3085 | 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 | a0001c0001t0004g0004 a0001c0001t0004g0071 a0001c0001t0004g0072 others(4): Show |
27 | 402 | 0.0672 | 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 |
a0002a0003a0007others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(84): Show |
98 | 380 | 0.2579 | 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 |
a0002a0007a0011 | a0002c0002a0007c0020a0011c0018 | a0002c0002t0001a0007c0020t0001a0011c0018t0001 | a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 others(19): Show |
25 | 105 | 0.2381 | 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 | a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0095 others(81): Show |
96 | 174 | 0.5517 | 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(137): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0071 others(124): Show |
140 | 368 | 0.3804 | 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 | a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0125 others(53): Show |
65 | 286 | 0.2273 | 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 |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0012 | a0001c0001t0001a0004c0004t0001a0008c0012t0001 | a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0283 others(6): Show |
10 | 247 | 0.0405 | 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 | a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0010t0001g0280 others(15): Show |
18 | 379 | 0.0475 | 1 | c.248 others(10): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56348258 | C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0007 | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(1): Show | a0002c0002t0001g0226 a0002c0002t0001g0235 a0003c0003t0001g0220 others(11): Show |
14 | 378 | 0.0370 | 1 | c.248 others(10): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56351917 | C | CA | intron_variant | MODIFIER | HG01258.hp2 HG01433.hp1 HG02572.hp2 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0002a0004c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0065 a0001c0001t0001g0066 others(6): Show |
10 | 226 | 0.0442 | 1 | c.157 others(9): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56355593 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(57): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0004c0025others(2): Show | a0001c0001t0001a0004c0004t0001a0004c0025t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0079 a0001c0001t0001g0080 others(48): Show |
60 | 158 | 0.3797 | 1 | c.862 others(8): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56355594 | T | TG | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG03041.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 others(3): Show |
6 | 380 | 0.0158 | 1 | c.862 others(16): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar |