| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AMBN_chr4_70587256_70612288 | 70606516 | G | GCGTCACC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA18959.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0009 | 1 | 478 | 0.0021 | 19 | c.113 others(28): Show |
p.Asp others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 1253/2005 | 1150/1344 | 384/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
| AMPD1_chr1_114668098_114700546 | 114693436 | G | A | stop_gained others(1): Show |
HIGH | HG01123.hp2 HG01168.hp2 HG01361.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0053 a0002c0003t0001g0211 a0002c0003t0001g0212 |
4 | 356 | 0.0112 | 0 | c.34C others(2): Show |
p.Gln others(3): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 2/16 | 109/2335 | 34/2244 | 12/747 | chr1 | TogoVar | |||
| AMY1A_chr1_103650760_103669554 | 103660629 | C | T | stop_gained | HIGH | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 230 | 0.0043 | 0 | c.105 others(4): Show |
p.Arg others(4): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 8/11 | 1269/1785 | 1054/1536 | 352/511 | chr1 | TogoVar | |||
| AMY1B_chr1_103682415_103701210 | 103691331 | G | T | stop_gained | HIGH | NA18984.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0062 | 1 | 160 | 0.0063 | 0 | c.106 others(4): Show |
p.Ser others(4): Show |
AMY1B | ENSG00000174876.17 | transcript | ENST00000330330.10 | protein_coding | 8/11 | 1279/1785 | 1064/1536 | 355/511 | chr1 | TogoVar | |||
| AMY1C_chr1_103744898_103763692 | 103754777 | C | A | stop_gained | HIGH | NA18984.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0053 | 1 | 340 | 0.0029 | 0 | c.106 others(4): Show |
p.Ser others(4): Show |
AMY1C | ENSG00000187733.7 | transcript | ENST00000622339.5 | protein_coding | 8/11 | 1279/1785 | 1064/1536 | 355/511 | chr1 | TogoVar | |||
| AMY2B_chr1_103566589_103584534 | 103577578 | G | A | stop_gained | HIGH | HG02602.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0001 | 1 | 406 | 0.0025 | 0 | c.119 others(4): Show |
p.Trp others(4): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 8/10 | 1204/1584 | 1190/1536 | 397/511 | chr1 | TogoVar | |||
| AMZ1_chr7_2683202_2724683 | 2700746 | C | T | stop_gained | HIGH | HG01168.hp2 HG01169.hp2 |
a0005 | a0005c0026 | a0005c0026t0004 | a0005c0026t0004g0067 a0005c0026t0004g0068 |
2 | 436 | 0.0046 | 0 | c.295 others(3): Show |
p.Gln others(3): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/7 | 608/8615 | 295/1497 | 99/498 | chr7 | TogoVar | |||
| AMZ2_chr17_68243043_68262155 | 68255873 | C | G | stop_gained | HIGH | HG02451.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0010 | 1 | 436 | 0.0023 | 0 | c.924 others(3): Show |
p.Tyr others(4): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 6/7 | 1587/1932 | 924/1083 | 308/360 | chr17 | TogoVar | |||
| ANGPTL4_chr19_8359155_8379370 | 8373715 | G | A | stop_gained | HIGH | HG02004.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0007 | 1 | 406 | 0.0025 | 0 | c.105 others(4): Show |
p.Trp others(4): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 7/7 | 1217/1872 | 1050/1221 | 350/406 | chr19 | TogoVar | |||
| ANGPTL5_chr11_101885674_101921522 | 101891288 | A | C | stop_gained | HIGH | HG02451.hp2 HG02970.hp1 HG06807.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0043 a0003c0003t0006g0184 |
3 | 420 | 0.0071 | 0 | c.115 others(4): Show |
p.Tyr others(4): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 9/9 | 1754/2368 | 1158/1167 | 386/388 | chr11 | TogoVar | |||
| ANGPTL5_chr11_101885674_101921522 | 101907127 | G | A | stop_gained | HIGH | NA18964.hp2 NA19009.hp1 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0110 a0006c0006t0002g0146 |
2 | 420 | 0.0048 | 0 | c.217 others(3): Show |
p.Arg others(3): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 3/9 | 813/2368 | 217/1167 | 73/388 | chr11 | TogoVar | |||
| ANG_chr14_20683764_20699183 | 20693957 | T | A | stop_gained | HIGH | HG00741.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0008 | 1 | 470 | 0.0021 | 0 | c.393 others(3): Show |
p.Cys others(4): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 522/748 | 393/444 | 131/147 | chr14 | TogoVar | |||
| ANG_chr14_20683764_20699183 | 20693968 | T | A | stop_gained | HIGH | HG00741.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0008 | 1 | 470 | 0.0021 | 0 | c.404 others(3): Show |
p.Leu others(4): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 533/748 | 404/444 | 135/147 | chr14 | TogoVar | |||
| ANKDD1B_chr5_75606453_75676846 | 75666984 | C | T | stop_gained | HIGH | HG02738.hp2 | a0021 | a0021c0022 | a0021c0022t0001 | a0021c0022t0001g0081 | 1 | 370 | 0.0027 | 0 | c.138 others(4): Show |
p.Gln others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 12/14 | 1566/2575 | 1384/1587 | 462/528 | chr5 | TogoVar | |||
| ANKDD1B_chr5_75606453_75676846 | 75666988 | G | A | stop_gained | HIGH | HG02027.hp2 HG02056.hp1 HG02132.hp1 others(3): Show |
a0009 | a0009c0010 | a0009c0010t0009 | a0009c0010t0009g0009 a0009c0010t0009g0010 a0009c0010t0009g0041 others(1): Show |
6 | 370 | 0.0162 | 0 | c.138 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 12/14 | 1570/2575 | 1388/1587 | 463/528 | chr5 | TogoVar | |||
| ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(138): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(119): Show |
141 | 370 | 0.3811 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | |||
| ANKK1_chr11_113382779_113405416 | 113399728 | G | T | stop_gained | HIGH | HG01891.hp2 NA20300.hp1 |
a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0040 | 2 | 398 | 0.0050 | 0 | c.175 others(4): Show |
p.Glu others(4): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 8/8 | 1865/2553 | 1759/2298 | 587/765 | chr11 | TogoVar | |||
| ANKLE1_chr19_17276901_17292646 | 17282057 | G | A | stop_gained others(1): Show |
HIGH | HG01884.hp1 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0011 | 1 | 404 | 0.0025 | 0 | c.63G others(2): Show |
p.Trp others(3): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 2/9 | 83/2962 | 63/1848 | 21/615 | chr19 | TogoVar | |||
| ANKLE1_chr19_17276901_17292646 | 17283928 | C | A | stop_gained | HIGH | NA19087.hp1 | a0010 | a0010c0024 | a0010c0024t0001 | a0010c0024t0001g0001 | 1 | 404 | 0.0025 | 0 | c.116 others(4): Show |
p.Tyr others(4): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 5/9 | 1184/2962 | 1164/1848 | 388/615 | chr19 | TogoVar | |||
| ANKMY1_chr2_240474422_240562988 | 240529428 | G | A | stop_gained | HIGH | NA18981.hp2 | a0021 | a0021c0042 | a0021c0042t0001 | a0021c0042t0001g0214 | 1 | 318 | 0.0031 | 0 | c.562 others(3): Show |
p.Arg others(4): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 5/18 | 687/3405 | 562/3093 | 188/1030 | chr2 | TogoVar | |||
| ANKRD18B_chr9_33519251_33578013 | 33571267 | C | T | stop_gained | HIGH | HG03471.hp1 | a0027 | a0027c0045 | a0027c0045t0011 | a0027c0045t0011g0049 | 1 | 372 | 0.0027 | 0 | c.319 others(4): Show |
p.Gln others(5): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 18/19 | 3438/4160 | 3199/3342 | 1067/1113 | chr9 | TogoVar | |||
| ANKRD1_chr10_90907096_90926087 | 90915587 | G | A | stop_gained | HIGH | HG01433.hp1 | a0005 | a0005c0008 | a0005c0008t0009 | a0005c0008t0009g0110 | 1 | 466 | 0.0021 | 0 | c.805 others(3): Show |
p.Arg others(4): Show |
ANKRD1 | ENSG00000148677.7 | transcript | ENST00000371697.4 | protein_coding | 8/9 | 865/1790 | 805/960 | 269/319 | chr10 | TogoVar | |||
| ANKRD20A1_chr9_67853931_67907394 | 67893489 | G | T | stop_gained | HIGH | HG00597.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0007 | 1 | 8 | 0.1250 | 0 | c.113 others(4): Show |
p.Glu others(4): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 12/15 | 1631/3895 | 1135/2472 | 379/823 | chr9 | TogoVar | |||
| ANKRD30A_chr10_37120598_37237567 | 37130364 | G | T | stop_gained | HIGH | HG01099.hp1 | a0009 | a0009c0042 | a0009c0042t0007 | a0009c0042t0007g0104 | 1 | 284 | 0.0035 | 0 | c.496 others(3): Show |
p.Glu others(4): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 3/36 | 686/4664 | 496/4194 | 166/1397 | chr10 | TogoVar | |||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23571): Show |
frameshift_variant others(1): Show |
HIGH | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 232 | 0.0043 | 23578 | c.221 others(23587): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23577): Show |
frameshift_variant others(1): Show |
HIGH | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 232 | 0.0043 | 23584 | c.221 others(23593): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23577): Show |
frameshift_variant others(1): Show |
HIGH | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 232 | 0.0043 | 23584 | c.221 others(23593): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23578): Show |
frameshift_variant others(1): Show |
HIGH | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 232 | 0.0043 | 23585 | c.221 others(23594): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30B_chr18_14743172_14859667 | 14814633 | G | GCTCTCTT others(10879): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0042 | a0042c0058 | a0042c0058t0002 | a0042c0058t0002g0046 | 1 | 22 | 0.0455 | 10886 | c.258 others(10895): Show |
p.Gly others(5): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 30/44 | 2830/5335 | 2582/4578 | 861/1525 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
| ANKRD35_chr1_145861564_145890866 | 145872539 | G | A | stop_gained | HIGH | NA18972.hp1 | a0020 | a0020c0025 | a0020c0025t0001 | a0020c0025t0001g0199 | 1 | 398 | 0.0025 | 0 | c.223 others(4): Show |
p.Gln others(4): Show |
ANKRD35 | ENSG00000198483.13 | transcript | ENST00000355594.9 | protein_coding | 10/14 | 2338/3359 | 2230/3006 | 744/1001 | chr1 | TogoVar | |||
| ANKRD35_chr1_145861564_145890866 | 145873259 | G | A | stop_gained | HIGH | NA18977.hp2 NA18998.hp2 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0059 a0013c0017t0001g0061 |
2 | 398 | 0.0050 | 0 | c.151 others(4): Show |
p.Arg others(4): Show |
ANKRD35 | ENSG00000198483.13 | transcript | ENST00000355594.9 | protein_coding | 10/14 | 1618/3359 | 1510/3006 | 504/1001 | chr1 | TogoVar | |||
| ANKRD36_chr2_97108153_97269521 | 97122920 | C | T | stop_gained | HIGH | HG02293.hp1 | a0025 | a0025c0043 | a0025c0043t0001 | a0025c0043t0001g0167 | 1 | 210 | 0.0048 | 0 | c.520 others(3): Show |
p.Arg others(4): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 4/76 | 1107/6534 | 520/5748 | 174/1915 | chr2 | TogoVar | |||
| ANKRD36_chr2_97108153_97269521 | 97151924 | C | T | stop_gained | HIGH | HG03834.hp2 HG03927.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0035 | a0001c0001t0001a0001c0035t0001 | a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0035t0001g0103 |
3 | 210 | 0.0143 | 0 | c.114 others(4): Show |
p.Arg others(4): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | 1734/6534 | 1147/5748 | 383/1915 | chr2 | TogoVar | |||
| ANKRD36_chr2_97108153_97269521 | 97241463 | G | T | stop_gained | HIGH | HG01934.hp1 | a0012 | a0012c0036 | a0012c0036t0001 | a0012c0036t0001g0080 | 1 | 210 | 0.0048 | 0 | c.429 others(4): Show |
p.Glu others(5): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 69/76 | 4878/6534 | 4291/5748 | 1431/1915 | chr2 | TogoVar | |||
| ANKRD40CL_chr17_50756030_50772518 | 50763441 | G | A | stop_gained | HIGH | HG00733.hp1 HG01516.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0024 | 2 | 454 | 0.0044 | 0 | c.157 others(3): Show |
p.Arg others(3): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 3/4 | 311/832 | 157/345 | 53/114 | chr17 | TogoVar | |||
| ANKRD42_chr11_83188712_83253971 | 83247980 | C | T | stop_gained | HIGH | HG02273.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0136 | 1 | 348 | 0.0029 | 0 | c.136 others(4): Show |
p.Arg others(4): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 11/11 | 2319/3310 | 1360/1584 | 454/527 | chr11 | TogoVar | |||
| ANKRD60_chr20_58211126_58233653 | 58221467 | G | A | stop_gained | HIGH | HG03486.hp2 NA19240.hp1 |
a0009 | a0009c0024a0009c0025 | a0009c0024t0009a0009c0025t0009 | a0009c0024t0009g0195 a0009c0025t0009g0196 |
2 | 456 | 0.0044 | 0 | c.598 others(3): Show |
p.Arg others(4): Show |
ANKRD60 | ENSG00000124227.6 | transcript | ENST00000457363.2 | protein_coding | 3/4 | 598/3407 | 598/1038 | 200/345 | chr20 | TogoVar | |||
| ANKUB1_chr3_149756100_149797554 | 149767338 | T | A | stop_gained | HIGH | HG03927.hp1 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0211 | 1 | 370 | 0.0027 | 0 | c.132 others(4): Show |
p.Lys others(4): Show |
ANKUB1 | ENSG00000206199.11 | transcript | ENST00000446160.7 | protein_coding | 5/6 | 1512/2207 | 1324/1635 | 442/544 | chr3 | TogoVar | |||
| ANKZF1_chr2_219224806_219241679 | 219233853 | C | T | stop_gained | HIGH | HG03927.hp2 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0002 | 1 | 374 | 0.0027 | 0 | c.958 others(3): Show |
p.Arg others(4): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 8/14 | 1083/2540 | 958/2181 | 320/726 | chr2 | TogoVar | |||
| ANXA11_chr10_80145889_80210537 | 80169241 | G | A | stop_gained | HIGH | HG00423.hp2 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0199 | 1 | 384 | 0.0026 | 0 | c.289 others(3): Show |
p.Gln others(3): Show |
ANXA11 | ENSG00000122359.18 | transcript | ENST00000422982.8 | protein_coding | 5/16 | 541/6734 | 289/1518 | 97/505 | chr10 | TogoVar | |||
| ANXA1_chr9_73146865_73175393 | 73159367 | C | T | stop_gained | HIGH | NA18956.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0089 | 1 | 426 | 0.0023 | 0 | c.214 others(3): Show |
p.Arg others(3): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 4/13 | 288/1401 | 214/1041 | 72/346 | chr9 | TogoVar | |||
| AOC3_chr17_42846199_42863124 | 42856481 | C | A | stop_gained | HIGH | HG03209.hp1 | a0011 | a0011c0015 | a0011c0015t0003 | a0011c0015t0003g0001 | 1 | 282 | 0.0035 | 0 | c.222 others(4): Show |
p.Cys others(4): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 4/4 | 2368/4011 | 2223/2292 | 741/763 | chr17 | TogoVar | |||
| AOX1_chr2_200581014_200676495 | 200651022 | C | T | stop_gained | HIGH | HG01255.hp2 | a0008 | a0008c0025 | a0008c0025t0003 | a0008c0025t0003g0285 | 1 | 368 | 0.0027 | 0 | c.289 others(4): Show |
p.Gln others(4): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 26/35 | 2991/4928 | 2896/4017 | 966/1338 | chr2 | TogoVar | |||
| APBA3_chr19_3745772_3766692 | 3760243 | G | A | stop_gained | HIGH | NA18977.hp2 NA18989.hp2 NA19065.hp1 |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0055 a0008c0011t0002g0086 a0008c0011t0002g0087 |
3 | 448 | 0.0067 | 0 | c.22C others(2): Show |
p.Arg others(2): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 2/11 | 216/2176 | 22/1728 | 8/575 | chr19 | TogoVar | |||
| API5_chr11_43306996_43349529 | 43335212 | C | CCCTCACC others(96): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 382 | 0.0026 | 103 | c.127 others(115): Show |
p.Thr others(5): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/14 | 1449/3726 | 1317/1575 | 439/524 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
| APOBEC1_chr12_7644400_7670908 | 7652818 | C | T | stop_gained | HIGH | HG02738.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0212 | 1 | 430 | 0.0023 | 0 | c.62G others(2): Show |
p.Trp others(3): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 3/5 | 98/894 | 62/711 | 21/236 | chr12 | TogoVar | |||
| APOBEC3G_chr22_39072275_39092743 | 39081575 | G | T | stop_gained | HIGH | HG02809.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0078 | 1 | 422 | 0.0024 | 0 | c.571 others(3): Show |
p.Glu others(4): Show |
APOBEC3G | ENSG00000239713.9 | transcript | ENST00000407997.4 | protein_coding | 4/8 | 658/1564 | 571/1155 | 191/384 | chr22 | TogoVar | |||
| APOBR_chr16_28489643_28503964 | 28496912 | G | A | stop_gained | HIGH | NA19082.hp2 | a0031 | a0031c0031 | a0031c0031t0002 | a0031c0031t0002g0001 | 1 | 404 | 0.0025 | 0 | c.187 others(4): Show |
p.Trp others(4): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1910/3792 | 1871/3294 | 624/1097 | chr16 | TogoVar | |||
| APOL5_chr22_35712872_35734483 | 35726258 | TCAACTGT others(44): Show |
T | stop_gained others(1): Show |
HIGH | HG01261.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0003 | 1 | 400 | 0.0025 | -51 | c.191 others(58): Show |
p.Ser others(17): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 3/5 | 191/1438 | 191/1302 | 64/433 | chr22 | TogoVar | |||
| APOL5_chr22_35712872_35734483 | 35726318 | C | T | stop_gained | HIGH | HG02809.hp2 HG03041.hp2 |
a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0090 a0006c0008t0003g0095 |
2 | 400 | 0.0050 | 0 | c.250 others(3): Show |
p.Arg others(3): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 3/5 | 250/1438 | 250/1302 | 84/433 | chr22 | TogoVar |