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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG8_chr11_78095946_78144626 | 78112745 | C | T | missense_variant | MODERATE | HG01358.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0273 | 1 | 402 | 0.0025 | 0 | c.803 others(3): Show |
p.Arg others(6): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 8/13 | 841/1637 | 803/1581 | 268/526 | chr11 | TogoVar | ||
ALG8_chr11_78095946_78144626 | 78114274 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(51): Show |
a0002a0007 | a0002c0002a0007c0008 | a0002c0002t0001a0002c0002t0002a0007c0008t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0019others(44): Show | 54 | 402 | 0.1343 | 0 | c.665 others(3): Show |
p.Asn others(6): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 6/13 | 703/1637 | 665/1581 | 222/526 | chr11 | TogoVar | ||
ALG8_chr11_78095946_78144626 | 78127378 | T | C | missense_variant | MODERATE | NA18983.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0087 | 1 | 402 | 0.0025 | 0 | c.154 others(3): Show |
p.Ile others(5): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 2/13 | 192/1637 | 154/1581 | 52/526 | chr11 | TogoVar | ||
ALG9_chr11_111777195_111876581 | 111786462 | A | G | missense_variant | MODERATE | HG03139.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0131 | 1 | 314 | 0.0032 | 0 | c.179 others(4): Show |
p.Tyr others(6): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 15/15 | 1891/6158 | 1792/1857 | 598/618 | chr11 | TogoVar | ||
ALG9_chr11_111777195_111876581 | 111809772 | A | C | missense_variant others(1): Show |
MODERATE | HG00597.hp1 NA18968.hp2 NA18989.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0096a0004c0004t0001g0097a0004c0004t0001g0098others(1): Show | 4 | 314 | 0.0127 | 0 | c.160 others(4): Show |
p.Ile others(6): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 14/15 | 1703/6158 | 1604/1857 | 535/618 | chr11 | TogoVar | ||
ALG9_chr11_111777195_111876581 | 111836229 | G | A | missense_variant | MODERATE | HG00735.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0057 | 1 | 314 | 0.0032 | 0 | c.153 others(4): Show |
p.Pro others(6): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/15 | 1637/6158 | 1538/1857 | 513/618 | chr11 | TogoVar | ||
ALG9_chr11_111777195_111876581 | 111853410 | C | T | missense_variant | MODERATE | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(99): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(5): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(95): Show | 102 | 314 | 0.3248 | 0 | c.865 others(3): Show |
p.Val others(6): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/15 | 964/6158 | 865/1857 | 289/618 | chr11 | TogoVar | ||
ALG9_chr11_111777195_111876581 | 111853460 | T | C | missense_variant | MODERATE | HG01952.hp1 HG03516.hp1 |
a0005 | a0005c0007 | a0005c0007t0009 | a0005c0007t0009g0284a0005c0007t0009g0286 | 2 | 314 | 0.0064 | 0 | c.815 others(3): Show |
p.Tyr others(6): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/15 | 914/6158 | 815/1857 | 272/618 | chr11 | TogoVar | ||
ALG9_chr11_111777195_111876581 | 111853674 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02280.hp2 HG02976.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004a0003c0003t0026 | a0003c0003t0001g0123a0003c0003t0001g0124a0003c0003t0001g0125others(3): Show | 6 | 314 | 0.0191 | 0 | c.764 others(3): Show |
p.Ser others(6): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 7/15 | 863/6158 | 764/1857 | 255/618 | chr11 | TogoVar | ||
ALKAL1_chr8_52529037_52570430 | 52539908 | G | A | missense_variant | MODERATE | HG02056.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0070 | 1 | 396 | 0.0025 | 0 | c.248 others(3): Show |
p.Pro others(5): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 3/5 | 422/1140 | 248/390 | 83/129 | chr8 | TogoVar | ||
ALKAL1_chr8_52529037_52570430 | 52565238 | C | G | missense_variant | MODERATE | HG01243.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021a0002c0002t0001g0022 | 4 | 396 | 0.0101 | 0 | c.19G others(2): Show |
p.Gly others(4): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 1/5 | 193/1140 | 19/390 | 7/129 | chr8 | TogoVar | ||
ALKAL2_chr2_274558_293091 | 287736 | C | T | missense_variant | MODERATE | HG00621.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 | 1 | 416 | 0.0024 | 0 | c.100 others(3): Show |
p.Gly others(5): Show |
ALKAL2 | ENSG00000189292.17 | transcript | ENST00000403610.9 | protein_coding | 2/6 | 236/1184 | 100/459 | 34/152 | chr2 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77673847 | C | T | missense_variant | MODERATE | HG04228.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0217 | 1 | 360 | 0.0028 | 0 | c.113 others(4): Show |
p.Glu others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 6/6 | 1154/2597 | 1135/1170 | 379/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77673913 | G | A | missense_variant | MODERATE | HG03195.hp2 | a0008 | a0008c0010 | a0008c0010t0004 | a0008c0010t0004g0273 | 1 | 360 | 0.0028 | 0 | c.106 others(4): Show |
p.Pro others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 6/6 | 1088/2597 | 1069/1170 | 357/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77674012 | T | A | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00738.hp2 others(39): Show |
a0002a0003a0008 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0004a0002c0003t0006a0002c0003t0009others(3): Show | a0002c0002t0004g0008a0002c0002t0004g0069a0002c0002t0004g0070others(34): Show | 42 | 360 | 0.1167 | 0 | c.970 others(3): Show |
p.Met others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 6/6 | 989/2597 | 970/1170 | 324/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77675702 | C | T | missense_variant | MODERATE | HG02738.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0206 | 1 | 360 | 0.0028 | 0 | c.694 others(3): Show |
p.Val others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 5/6 | 713/2597 | 694/1170 | 232/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77679909 | C | T | missense_variant | MODERATE | HG02486.hp1 | a0006 | a0006c0007 | a0006c0007t0012 | a0006c0007t0012g0057 | 1 | 360 | 0.0028 | 0 | c.517 others(3): Show |
p.Val others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 4/6 | 536/2597 | 517/1170 | 173/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77679950 | C | T | missense_variant | MODERATE | NA20905.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0059 | 1 | 360 | 0.0028 | 0 | c.476 others(3): Show |
p.Arg others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 4/6 | 495/2597 | 476/1170 | 159/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77694788 | C | T | missense_variant | MODERATE | HG01257.hp2 HG01258.hp2 NA20805.hp1 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0066a0003c0004t0006g0067a0003c0004t0006g0068 | 3 | 360 | 0.0083 | 0 | c.405 others(3): Show |
p.Met others(6): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/6 | 424/2597 | 405/1170 | 135/389 | chr14 | TogoVar | ||
ALKBH1_chr14_77667404_77713023 | 77704449 | G | C | missense_variant | MODERATE | NA18966.hp2 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0215 | 1 | 360 | 0.0028 | 0 | c.212 others(3): Show |
p.Ser others(5): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 2/6 | 231/2597 | 212/1170 | 71/389 | chr14 | TogoVar | ||
ALKBH2_chr12_109083189_109098472 | 109088384 | C | T | missense_variant | MODERATE | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0008 | a0002c0002t0001g0012a0002c0002t0001g0050a0002c0002t0003g0069others(1): Show | 10 | 470 | 0.0213 | 0 | c.608 others(3): Show |
p.Arg others(6): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 4/4 | 985/1180 | 608/786 | 203/261 | chr12 | TogoVar | ||
ALKBH2_chr12_109083189_109098472 | 109090067 | T | C | missense_variant | MODERATE | HG00735.hp2 HG01257.hp2 HG01258.hp1 |
a0003 | a0003c0005a0003c0006 | a0003c0005t0001a0003c0006t0001 | a0003c0005t0001g0028a0003c0006t0001g0046 | 3 | 470 | 0.0064 | 0 | c.421 others(3): Show |
p.Ile others(6): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 3/4 | 798/1180 | 421/786 | 141/261 | chr12 | TogoVar | ||
ALKBH3_chr11_43875831_43925274 | 43883120 | G | T | missense_variant | MODERATE | HG03041.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0149 | 1 | 376 | 0.0027 | 0 | c.115 others(3): Show |
p.Gly others(5): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 3/10 | 534/1544 | 115/861 | 39/286 | chr11 | TogoVar | ||
ALKBH3_chr11_43875831_43925274 | 43892127 | C | G | missense_variant others(1): Show |
MODERATE | HG02723.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0171 | 1 | 376 | 0.0027 | 0 | c.457 others(3): Show |
p.His others(6): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 7/10 | 876/1544 | 457/861 | 153/286 | chr11 | TogoVar | ||
ALKBH3_chr11_43875831_43925274 | 43901546 | C | T | missense_variant | MODERATE | NA18947.hp2 NA18994.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0030 | 2 | 376 | 0.0053 | 0 | c.490 others(3): Show |
p.Arg others(6): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 8/10 | 909/1544 | 490/861 | 164/286 | chr11 | TogoVar | ||
ALKBH3_chr11_43875831_43925274 | 43919052 | C | G | missense_variant | MODERATE | HG00438.hp1 HG00621.hp1 HG00642.hp2 others(49): Show |
a0002a0003 | a0002c0003a0003c0010 | a0002c0003t0002a0003c0010t0002 | a0002c0003t0002g0007a0002c0003t0002g0017a0002c0003t0002g0018others(34): Show | 52 | 376 | 0.1383 | 0 | c.684 others(3): Show |
p.Asp others(6): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 9/10 | 1103/1544 | 684/861 | 228/286 | chr11 | TogoVar | ||
ALKBH4_chr7_102451238_102469863 | 102457563 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00733.hp1 HG00738.hp1 others(45): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007a0002c0002t0011others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0007a0002c0002t0001g0040others(19): Show | 48 | 404 | 0.1188 | 0 | c.740 others(3): Show |
p.Ala others(6): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 3/3 | 767/2092 | 740/909 | 247/302 | chr7 | TogoVar | ||
ALKBH4_chr7_102451238_102469863 | 102459623 | T | G | missense_variant | MODERATE | NA18906.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0152 | 1 | 404 | 0.0025 | 0 | c.302 others(3): Show |
p.Gln others(6): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2/3 | 329/2092 | 302/909 | 101/302 | chr7 | TogoVar | ||
ALKBH4_chr7_102451238_102469863 | 102464791 | C | T | missense_variant | MODERATE | NA21309.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0048 | 1 | 404 | 0.0025 | 0 | c.46G others(2): Show |
p.Gly others(5): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 1/3 | 73/2092 | 46/909 | 16/302 | chr7 | TogoVar | ||
ALKBH6_chr19_36004120_36019213 | 36010574 | G | T | missense_variant | MODERATE | HG02109.hp1 HG02922.hp2 HG03225.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 4 | 392 | 0.0102 | 0 | c.446 others(3): Show |
p.Thr others(6): Show |
ALKBH6 | ENSG00000239382.11 | transcript | ENST00000378875.8 | protein_coding | 6/7 | 510/951 | 446/717 | 149/238 | chr19 | TogoVar | ||
ALKBH6_chr19_36004120_36019213 | 36010578 | G | C | missense_variant | MODERATE | HG01109.hp2 HG02572.hp1 HG02922.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 3 | 392 | 0.0077 | 0 | c.442 others(3): Show |
p.Pro others(6): Show |
ALKBH6 | ENSG00000239382.11 | transcript | ENST00000378875.8 | protein_coding | 6/7 | 506/951 | 442/717 | 148/238 | chr19 | TogoVar | ||
ALKBH7_chr19_6367794_6380250 | 6374543 | G | A | missense_variant | MODERATE | NA18906.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0002 | 1 | 372 | 0.0027 | 0 | c.457 others(3): Show |
p.Glu others(6): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 3/4 | 484/970 | 457/666 | 153/221 | chr19 | TogoVar | ||
ALKBH7_chr19_6367794_6380250 | 6374879 | G | A | missense_variant | MODERATE | HG00280.hp2 HG00733.hp2 HG02148.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 5 | 372 | 0.0134 | 0 | c.572 others(3): Show |
p.Arg others(6): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 4/4 | 599/970 | 572/666 | 191/221 | chr19 | TogoVar | ||
ALKBH7_chr19_6367794_6380250 | 6374888 | G | A | missense_variant | MODERATE | HG01069.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 372 | 0.0027 | 0 | c.581 others(3): Show |
p.Arg others(6): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 4/4 | 608/970 | 581/666 | 194/221 | chr19 | TogoVar | ||
ALKBH7_chr19_6367794_6380250 | 6374941 | G | A | missense_variant | MODERATE | NA18968.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0001 | 1 | 372 | 0.0027 | 0 | c.634 others(3): Show |
p.Gly others(6): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 4/4 | 661/970 | 634/666 | 212/221 | chr19 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107504696 | C | A | missense_variant | MODERATE | HG00140.hp1 HG02683.hp2 HG03710.hp1 |
a0006 | a0006c0011a0006c0017 | a0006c0011t0001a0006c0017t0001 | a0006c0011t0001g0247a0006c0011t0001g0248a0006c0017t0001g0222 | 3 | 400 | 0.0075 | 0 | c.195 others(4): Show |
p.Asp others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 12/12 | 2098/4067 | 1957/1995 | 653/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107504761 | C | T | missense_variant | MODERATE | HG02257.hp2 HG02486.hp2 HG02895.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0212a0003c0005t0004g0213a0003c0005t0004g0214others(2): Show | 5 | 400 | 0.0125 | 0 | c.189 others(4): Show |
p.Arg others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 12/12 | 2033/4067 | 1892/1995 | 631/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107504819 | C | A | missense_variant | MODERATE | HG01081.hp2 HG01243.hp1 HG02615.hp2 others(7): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0040a0002c0004t0001g0210a0002c0004t0001g0271others(6): Show | 10 | 400 | 0.0250 | 0 | c.183 others(4): Show |
p.Gly others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 12/12 | 1975/4067 | 1834/1995 | 612/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107504833 | G | C | missense_variant | MODERATE | HG00673.hp1 NA18971.hp1 NA18979.hp1 others(2): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0059a0004c0006t0001g0061a0004c0006t0001g0065others(2): Show | 5 | 400 | 0.0125 | 0 | c.182 others(4): Show |
p.Pro others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 12/12 | 1961/4067 | 1820/1995 | 607/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107504941 | C | T | missense_variant | MODERATE | NA19240.hp1 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0199 | 1 | 400 | 0.0025 | 0 | c.171 others(4): Show |
p.Arg others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 12/12 | 1853/4067 | 1712/1995 | 571/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107504953 | C | T | missense_variant | MODERATE | HG00280.hp1 HG01433.hp1 HG03491.hp2 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0012a0005c0008t0006g0253 | 4 | 400 | 0.0100 | 0 | c.170 others(4): Show |
p.Gly others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 12/12 | 1841/4067 | 1700/1995 | 567/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107510892 | T | C | missense_variant | MODERATE | HG00408.hp2 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0142 | 1 | 400 | 0.0025 | 0 | c.143 others(4): Show |
p.Thr others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 11/12 | 1573/4067 | 1432/1995 | 478/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107510904 | G | T | missense_variant | MODERATE | HG01106.hp2 HG01361.hp1 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0094a0008c0010t0001g0095 | 2 | 400 | 0.0050 | 0 | c.142 others(4): Show |
p.His others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 11/12 | 1561/4067 | 1420/1995 | 474/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107525446 | T | C | missense_variant | MODERATE | NA19043.hp1 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0206 | 1 | 400 | 0.0025 | 0 | c.102 others(4): Show |
p.Asn others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 9/12 | 1166/4067 | 1025/1995 | 342/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107525585 | A | C | missense_variant | MODERATE | HG02647.hp1 HG02717.hp1 HG02886.hp1 |
a0009a0011 | a0009c0012a0009c0016a0011c0020 | a0009c0012t0009a0009c0016t0009a0011c0020t0009 | a0009c0012t0009g0227a0009c0016t0009g0207a0011c0020t0009g0318 | 3 | 400 | 0.0075 | 0 | c.886 others(3): Show |
p.Cys others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 9/12 | 1027/4067 | 886/1995 | 296/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107551809 | T | G | missense_variant others(1): Show |
MODERATE | HG02818.hp1 HG02886.hp1 HG02922.hp1 others(1): Show |
a0010a0011a0012others(1): Show | a0010c0021a0011c0020a0012c0015others(1): Show | a0010c0021t0001a0011c0020t0009a0012c0015t0003others(1): Show | a0010c0021t0001g0205a0011c0020t0009g0318a0012c0015t0003g0199others(1): Show | 4 | 400 | 0.0100 | 0 | c.699 others(3): Show |
p.Gln others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 6/12 | 840/4067 | 699/1995 | 233/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107556896 | G | C | missense_variant | MODERATE | HG02818.hp1 HG02886.hp1 |
a0010a0011 | a0010c0021a0011c0020 | a0010c0021t0001a0011c0020t0009 | a0010c0021t0001g0205a0011c0020t0009g0318 | 2 | 400 | 0.0050 | 0 | c.237 others(3): Show |
p.Asn others(5): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 3/12 | 378/4067 | 237/1995 | 79/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107556961 | G | A | missense_variant | MODERATE | HG01192.hp2 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0181 | 1 | 400 | 0.0025 | 0 | c.172 others(3): Show |
p.Arg others(5): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 3/12 | 313/4067 | 172/1995 | 58/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107556987 | T | C | missense_variant | MODERATE | HG02486.hp1 HG02809.hp2 HG03041.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0218a0007c0009t0001g0225a0007c0009t0001g0226 | 3 | 400 | 0.0075 | 0 | c.146 others(3): Show |
p.Asn others(5): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 3/12 | 287/4067 | 146/1995 | 49/664 | chr11 | TogoVar | ||
ALK_chr2_29187774_29926586 | 29193500 | G | C | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG00738.hp2 others(44): Show |
a0001a0003a0007others(1): Show | a0001c0004a0001c0006a0001c0009others(33): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(35): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0004t0008g0003others(44): Show | 47 | 80 | 0.5875 | 0 | c.458 others(4): Show |
p.Asp others(7): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 29/29 | 5514/6240 | 4587/4863 | 1529/1620 | chr2 | TogoVar |