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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AAMDC_chr11_77816144_77877352 | 77842592 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 others(157): Show |
165 | 380 | 0.4342 | 0 | c.96T others(2): Show |
p.Gly others(5): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/4 | 212/522 | 96/369 | 32/122 | chr11 | TogoVar | |||
AAMP_chr2_218259129_218275137 | 218264566 | C | T | synonymous_variant | LOW | HG02683.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0046 | 1 | 398 | 0.0025 | 0 | c.127 others(4): Show |
p.Ala others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 11/11 | 1323/1760 | 1272/1305 | 424/434 | chr2 | TogoVar | |||
AAMP_chr2_218259129_218275137 | 218265605 | C | T | synonymous_variant | LOW | NA18957.hp1 NA19080.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0024 | 2 | 398 | 0.0050 | 0 | c.957 others(3): Show |
p.Ser others(6): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 8/11 | 1008/1760 | 957/1305 | 319/434 | chr2 | TogoVar | |||
AAMP_chr2_218259129_218275137 | 218270003 | G | A | synonymous_variant | LOW | HG01884.hp2 HG03195.hp2 HG03209.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 a0001c0003t0001g0056 |
3 | 398 | 0.0075 | 0 | c.84C others(2): Show |
p.Ile others(5): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 1/11 | 135/1760 | 84/1305 | 28/434 | chr2 | TogoVar | |||
AAMP_chr2_218259129_218275137 | 218270039 | C | T | synonymous_variant | LOW | HG03942.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0031 | 1 | 398 | 0.0025 | 0 | c.48G others(2): Show |
p.Leu others(5): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 1/11 | 99/1760 | 48/1305 | 16/434 | chr2 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76468755 | G | A | synonymous_variant | LOW | HG01123.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0001 | 1 | 424 | 0.0024 | 0 | c.9G> others(1): Show |
p.Thr others(4): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2/4 | 209/971 | 9/624 | 3/207 | chr17 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76468881 | T | C | synonymous_variant | LOW | HG03669.hp1 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0015 | 1 | 424 | 0.0024 | 0 | c.135 others(3): Show |
p.Ala others(5): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2/4 | 335/971 | 135/624 | 45/207 | chr17 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76468887 | C | T | synonymous_variant | LOW | HG03041.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0001 | 1 | 424 | 0.0024 | 0 | c.141 others(3): Show |
p.Ser others(5): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 2/4 | 341/971 | 141/624 | 47/207 | chr17 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76469802 | C | T | synonymous_variant | LOW | HG03491.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0002 | 1 | 424 | 0.0024 | 0 | c.456 others(3): Show |
p.Ala others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 656/971 | 456/624 | 152/207 | chr17 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76469814 | C | T | synonymous_variant | LOW | NA18952.hp1 NA18954.hp2 NA18959.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 7 | 424 | 0.0165 | 0 | c.468 others(3): Show |
p.Ala others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 668/971 | 468/624 | 156/207 | chr17 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76469868 | C | T | synonymous_variant | LOW | NA18955.hp2 NA18973.hp2 NA18989.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0002 | 3 | 424 | 0.0071 | 0 | c.522 others(3): Show |
p.His others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 722/971 | 522/624 | 174/207 | chr17 | TogoVar | |||
AANAT_chr17_76462603_76475117 | 76469889 | C | A | synonymous_variant | LOW | HG01099.hp2 HG02622.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0009 | 2 | 424 | 0.0047 | 0 | c.543 others(3): Show |
p.Ile others(6): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4/4 | 743/971 | 543/624 | 181/207 | chr17 | TogoVar | |||
AAR2_chr20_36231478_36261933 | 36240381 | G | A | synonymous_variant | LOW | NA18950.hp2 NA18972.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 a0001c0003t0001g0043 a0001c0003t0001g0055 |
4 | 296 | 0.0135 | 0 | c.513 others(3): Show |
p.Lys others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/4 | 587/2417 | 513/1155 | 171/384 | chr20 | TogoVar | |||
AAR2_chr20_36231478_36261933 | 36240474 | C | T | synonymous_variant | LOW | HG02630.hp2 HG03225.hp1 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0034 a0001c0004t0005g0127 |
3 | 296 | 0.0101 | 0 | c.606 others(3): Show |
p.Ala others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/4 | 680/2417 | 606/1155 | 202/384 | chr20 | TogoVar | |||
AAR2_chr20_36231478_36261933 | 36240537 | T | C | synonymous_variant | LOW | HG00738.hp2 HG01081.hp1 HG01109.hp1 others(53): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0002t0001g0009 a0001c0002t0001g0033 a0001c0002t0001g0036 others(34): Show |
56 | 296 | 0.1892 | 0 | c.669 others(3): Show |
p.Ala others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/4 | 743/2417 | 669/1155 | 223/384 | chr20 | TogoVar | |||
AAR2_chr20_36231478_36261933 | 36240570 | T | C | synonymous_variant | LOW | HG03130.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0168 | 1 | 296 | 0.0034 | 0 | c.702 others(3): Show |
p.Tyr others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 2/4 | 776/2417 | 702/1155 | 234/384 | chr20 | TogoVar | |||
AAR2_chr20_36231478_36261933 | 36244833 | C | A | synonymous_variant | LOW | NA18994.hp1 NA19085.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0004 | 2 | 296 | 0.0068 | 0 | c.894 others(3): Show |
p.Leu others(6): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 3/4 | 968/2417 | 894/1155 | 298/384 | chr20 | TogoVar | |||
AARD_chr8_116933207_116949487 | 116938453 | G | A | synonymous_variant | LOW | HG02145.hp1 HG02886.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 a0001c0004t0001g0034 |
7 | 440 | 0.0159 | 0 | c.210 others(3): Show |
p.Ala others(5): Show |
AARD | ENSG00000205002.4 | transcript | ENST00000378279.4 | protein_coding | 1/2 | 247/2291 | 210/468 | 70/155 | chr8 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70253274 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(319): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(315): Show |
322 | 360 | 0.8944 | 0 | c.271 others(4): Show |
p.Val others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 20/21 | 2822/3437 | 2715/2907 | 905/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70253771 | G | A | synonymous_variant | LOW | HG01943.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0094 | 1 | 360 | 0.0028 | 0 | c.255 others(4): Show |
p.Asp others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 19/21 | 2657/3437 | 2550/2907 | 850/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70259148 | C | T | synonymous_variant | LOW | NA18983.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0206 | 1 | 360 | 0.0028 | 0 | c.182 others(4): Show |
p.Thr others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 14/21 | 1931/3437 | 1824/2907 | 608/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70262421 | G | T | synonymous_variant | LOW | NA19057.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0082 | 1 | 360 | 0.0028 | 0 | c.159 others(4): Show |
p.Thr others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 12/21 | 1703/3437 | 1596/2907 | 532/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70265046 | G | A | synonymous_variant | LOW | HG04204.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0316 | 1 | 360 | 0.0028 | 0 | c.140 others(4): Show |
p.Tyr others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/21 | 1511/3437 | 1404/2907 | 468/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70268298 | C | G | synonymous_variant | LOW | HG01261.hp2 HG02148.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0088 a0001c0007t0001g0121 |
2 | 360 | 0.0056 | 0 | c.104 others(4): Show |
p.Thr others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 8/21 | 1151/3437 | 1044/2907 | 348/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70269677 | G | A | synonymous_variant | LOW | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(157): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(157): Show |
160 | 360 | 0.4444 | 0 | c.903 others(3): Show |
p.His others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/21 | 1010/3437 | 903/2907 | 301/968 | chr16 | TogoVar | |||
AARS1_chr16_70247298_70294506 | 70269734 | T | C | synonymous_variant | LOW | HG03669.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0273 | 1 | 360 | 0.0028 | 0 | c.846 others(3): Show |
p.Lys others(6): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/21 | 953/3437 | 846/2907 | 282/968 | chr16 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44300634 | T | A | synonymous_variant | LOW | NA19001.hp1 | a0001 | a0001c0017 | a0001c0017t0021 | a0001c0017t0021g0054 | 1 | 39 | 0.0256 | 0 | c.287 others(4): Show |
p.Ser others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 2895/4798 | 2871/2958 | 957/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44300634 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(76): Show |
355 | 393 | 0.9033 | 0 | c.287 others(4): Show |
p.Ser others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 2895/4798 | 2871/2958 | 957/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44301219 | C | T | synonymous_variant | LOW | NA18974.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0070 | 1 | 394 | 0.0025 | 0 | c.273 others(4): Show |
p.Thr others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 21/22 | 2754/4798 | 2730/2958 | 910/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44301456 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0001c0017others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(39): Show |
198 | 394 | 0.5025 | 0 | c.260 others(4): Show |
p.Lys others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 20/22 | 2631/4798 | 2607/2958 | 869/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44304645 | C | T | splice_region_variant others(1): Show |
LOW | HG00673.hp2 HG01884.hp1 HG03831.hp1 others(1): Show |
a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0023 a0002c0006t0004g0049 |
4 | 394 | 0.0102 | 0 | c.175 others(4): Show |
p.Glu others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 12/22 | 1776/4798 | 1752/2958 | 584/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44305689 | G | A | synonymous_variant | LOW | HG02809.hp2 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0046 | 1 | 394 | 0.0025 | 0 | c.139 others(4): Show |
p.Ser others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 10/22 | 1422/4798 | 1398/2958 | 466/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44310311 | G | A | synonymous_variant | LOW | HG02273.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0064 | 1 | 394 | 0.0025 | 0 | c.882 others(3): Show |
p.Asn others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 5/22 | 906/4798 | 882/2958 | 294/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44311065 | G | A | synonymous_variant | LOW | HG03654.hp1 HG03834.hp2 |
a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0036 | 2 | 394 | 0.0051 | 0 | c.678 others(3): Show |
p.Tyr others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 4/22 | 702/4798 | 678/2958 | 226/985 | chr6 | TogoVar | |||
AARS2_chr6_44293731_44318347 | 44312087 | C | T | synonymous_variant | LOW | HG01891.hp1 HG01891.hp2 HG02922.hp1 others(1): Show |
a0002a0007a0011 | a0002c0012a0007c0009a0011c0013 | a0002c0012t0004a0007c0009t0012a0011c0013t0022 | a0002c0012t0004g0077 a0007c0009t0012g0033 a0011c0013t0022g0078 |
4 | 394 | 0.0102 | 0 | c.420 others(3): Show |
p.Gly others(6): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 2/22 | 444/4798 | 420/2958 | 140/985 | chr6 | TogoVar | |||
AARSD1_chr17_42945526_42969454 | 42954911 | G | A | synonymous_variant | LOW | HG01358.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0081 | 1 | 322 | 0.0031 | 0 | c.918 others(3): Show |
p.Asn others(6): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 9/12 | 932/1320 | 918/1239 | 306/412 | chr17 | TogoVar | |||
AARSD1_chr17_42945526_42969454 | 42956249 | G | A | synonymous_variant | LOW | NA18990.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0068 | 1 | 322 | 0.0031 | 0 | c.618 others(3): Show |
p.Ser others(6): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 6/12 | 632/1320 | 618/1239 | 206/412 | chr17 | TogoVar | |||
AARSD1_chr17_42945526_42969454 | 42964217 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(130): Show |
290 | 322 | 0.9006 | 0 | c.60C others(2): Show |
p.Ser others(5): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2/12 | 74/1320 | 60/1239 | 20/412 | chr17 | TogoVar | |||
AASDHPPT_chr11_106072662_106103695 | 106077836 | C | T | synonymous_variant | LOW | HG04199.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0041 | 1 | 402 | 0.0025 | 0 | c.126 others(3): Show |
p.Pro others(5): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 1/6 | 175/2767 | 126/930 | 42/309 | chr11 | TogoVar | |||
AASDHPPT_chr11_106072662_106103695 | 106079613 | T | C | synonymous_variant | LOW | NA18946.hp2 NA18948.hp1 NA18960.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0048 |
8 | 402 | 0.0199 | 0 | c.330 others(3): Show |
p.Ser others(6): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/6 | 379/2767 | 330/930 | 110/309 | chr11 | TogoVar | |||
AASDHPPT_chr11_106072662_106103695 | 106096820 | C | T | synonymous_variant | LOW | HG02486.hp2 HG03098.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0028 | 2 | 402 | 0.0050 | 0 | c.843 others(3): Show |
p.Ala others(6): Show |
AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | 892/2767 | 843/930 | 281/309 | chr11 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56338750 | C | T | synonymous_variant | LOW | HG03209.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0064 | 1 | 380 | 0.0026 | 0 | c.294 others(4): Show |
p.Pro others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 15/15 | 3121/3581 | 2949/3297 | 983/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56349314 | G | T | synonymous_variant | LOW | NA18961.hp1 NA18968.hp2 NA18969.hp1 others(7): Show |
a0002 | a0002c0006a0002c0024 | a0002c0006t0001a0002c0024t0001 | a0002c0006t0001g0024 a0002c0006t0001g0189 a0002c0006t0001g0228 others(6): Show |
10 | 380 | 0.0263 | 0 | c.243 others(4): Show |
p.Arg others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/15 | 2609/3581 | 2437/3297 | 813/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56353426 | G | A | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(230): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(207): Show |
233 | 380 | 0.6132 | 0 | c.155 others(4): Show |
p.Asp others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | 1726/3581 | 1554/3297 | 518/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56353429 | G | A | synonymous_variant | LOW | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 others(5): Show |
8 | 380 | 0.0211 | 0 | c.155 others(4): Show |
p.Ile others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | 1723/3581 | 1551/3297 | 517/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56353447 | C | T | synonymous_variant | LOW | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0007a0009others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(85): Show |
100 | 380 | 0.2632 | 0 | c.153 others(4): Show |
p.Pro others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | 1705/3581 | 1533/3297 | 511/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56371517 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0003a0012 | a0003c0003a0012c0023 | a0003c0003t0001a0003c0003t0002a0012c0023t0002 | a0003c0003t0001g0220 a0003c0003t0002g0003 a0003c0003t0002g0010 others(66): Show |
77 | 380 | 0.2026 | 0 | c.795 others(3): Show |
p.Ser others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/15 | 967/3581 | 795/3297 | 265/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56371559 | A | G | synonymous_variant | LOW | NA18939.hp1 | a0004 | a0004c0025 | a0004c0025t0001 | a0004c0025t0001g0126 | 1 | 380 | 0.0026 | 0 | c.753 others(3): Show |
p.Leu others(6): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/15 | 925/3581 | 753/3297 | 251/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56382561 | C | T | synonymous_variant | LOW | HG02809.hp2 HG02976.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0280 a0001c0010t0001g0281 |
2 | 380 | 0.0053 | 0 | c.267 others(3): Show |
p.Glu others(5): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/15 | 439/3581 | 267/3297 | 89/1098 | chr4 | TogoVar | |||
AASDH_chr4_56333290_56392491 | 56382564 | G | A | synonymous_variant | LOW | NA18969.hp1 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0234 | 1 | 380 | 0.0026 | 0 | c.264 others(3): Show |
p.Ile others(5): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/15 | 436/3581 | 264/3297 | 88/1098 | chr4 | TogoVar |