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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD36_chr2_97108153_97269521 | 97198596 | C | A | missense_variant | MODERATE | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(53): Show |
a0003a0006a0007others(9): Show | a0003c0003a0006c0008a0006c0034others(10): Show | a0003c0003t0001a0006c0008t0001a0006c0008t0009others(11): Show | a0003c0003t0001g0133a0003c0003t0001g0135a0003c0003t0001g0142others(53): Show | 56 | 212 | 0.2642 | 0 | c.269 others(4): Show |
p.Ala others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 44/76 | 3280/6534 | 2693/5748 | 898/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97198637 | G | T | missense_variant | MODERATE | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(53): Show |
a0003a0006a0007others(9): Show | a0003c0003a0006c0008a0006c0034others(10): Show | a0003c0003t0001a0006c0008t0001a0006c0008t0009others(11): Show | a0003c0003t0001g0133a0003c0003t0001g0135a0003c0003t0001g0142others(53): Show | 56 | 212 | 0.2642 | 0 | c.273 others(4): Show |
p.Asp others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 44/76 | 3321/6534 | 2734/5748 | 912/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97200454 | C | T | missense_variant others(1): Show |
MODERATE | HG04228.hp1 | a0045 | a0045c0049 | a0045c0049t0001 | a0045c0049t0001g0120 | 1 | 212 | 0.0047 | 0 | c.278 others(4): Show |
p.Ala others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 46/76 | 3373/6534 | 2786/5748 | 929/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97200496 | A | G | missense_variant | MODERATE | HG00597.hp1 | a0033 | a0033c0035 | a0033c0035t0001 | a0033c0035t0001g0136 | 1 | 212 | 0.0047 | 0 | c.282 others(4): Show |
p.Glu others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 46/76 | 3415/6534 | 2828/5748 | 943/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97205943 | C | T | missense_variant | MODERATE | HG00423.hp1 HG02602.hp2 NA18945.hp1 others(2): Show |
a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0011a0011c0011t0002g0045a0011c0011t0002g0046others(2): Show | 5 | 212 | 0.0236 | 0 | c.306 others(4): Show |
p.Ser others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 51/76 | 3652/6534 | 3065/5748 | 1022/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97207985 | T | G | missense_variant | MODERATE | HG01496.hp2 HG02630.hp2 |
a0036a0037 | a0036c0041a0037c0040 | a0036c0041t0001a0037c0040t0002 | a0036c0041t0001g0113a0037c0040t0002g0211 | 2 | 212 | 0.0094 | 0 | c.324 others(4): Show |
p.Tyr others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | 3831/6534 | 3244/5748 | 1082/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97211555 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(127): Show |
a0002a0003a0004others(28): Show | a0002c0002a0003c0003a0004c0005others(31): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(35): Show | a0002c0002t0001g0017a0002c0002t0001g0052a0002c0002t0001g0053others(127): Show | 130 | 212 | 0.6132 | 0 | c.337 others(4): Show |
p.Pro others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 57/76 | 3964/6534 | 3377/5748 | 1126/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97211555 | C | T | missense_variant | MODERATE | NA19056.hp2 | a0019 | a0019c0032 | a0019c0032t0007 | a0019c0032t0007g0127 | 1 | 212 | 0.0047 | 0 | c.337 others(4): Show |
p.Pro others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 57/76 | 3964/6534 | 3377/5748 | 1126/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97211703 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00597.hp1 HG00639.hp1 others(41): Show |
a0003a0006a0007others(6): Show | a0003c0003a0006c0008a0006c0034others(7): Show | a0003c0003t0001a0006c0008t0001a0006c0008t0009others(8): Show | a0003c0003t0001g0133a0003c0003t0001g0135a0003c0003t0001g0142others(41): Show | 44 | 212 | 0.2076 | 0 | c.343 others(4): Show |
p.Met others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 58/76 | 4018/6534 | 3431/5748 | 1144/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97211741 | G | A | missense_variant others(1): Show |
MODERATE | HG02809.hp2 HG02895.hp1 |
a0021 | a0021c0021 | a0021c0021t0002 | a0021c0021t0002g0012a0021c0021t0002g0013 | 2 | 212 | 0.0094 | 0 | c.346 others(4): Show |
p.Val others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 58/76 | 4056/6534 | 3469/5748 | 1157/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97213425 | G | C | missense_variant | MODERATE | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(170): Show |
a0000a0001a0002others(36): Show | a0000c0016a0001c0001a0001c0036others(43): Show | a0000c0016t0006a0001c0001t0001a0001c0001t0002others(48): Show | a0000c0016t0006g0018a0000c0016t0006g0076a0000c0016t0006g0108others(170): Show | 173 | 212 | 0.8160 | 0 | c.347 others(4): Show |
p.Cys others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 59/76 | 4063/6534 | 3476/5748 | 1159/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97217357 | T | G | missense_variant | MODERATE | HG00558.hp1 HG00642.hp1 HG00741.hp2 others(9): Show |
a0006a0014 | a0006c0008a0006c0034a0014c0014 | a0006c0008t0001a0006c0008t0009a0006c0034t0001others(1): Show | a0006c0008t0001g0004a0006c0008t0001g0005a0006c0008t0001g0006others(9): Show | 12 | 212 | 0.0566 | 0 | c.376 others(4): Show |
p.Trp others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 64/76 | 4347/6534 | 3760/5748 | 1254/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97243892 | G | T | missense_variant | MODERATE | HG00558.hp1 HG00597.hp2 HG01261.hp1 others(25): Show |
a0008a0009a0013others(4): Show | a0008c0006a0009c0009a0013c0013others(5): Show | a0008c0006t0003a0009c0009t0002a0013c0013t0003others(5): Show | a0008c0006t0003g0184a0008c0006t0003g0190a0008c0006t0003g0191others(25): Show | 28 | 212 | 0.1321 | 0 | c.435 others(4): Show |
p.Val others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 70/76 | 4941/6534 | 4354/5748 | 1452/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97245479 | A | G | missense_variant | MODERATE | HG03688.hp2 NA18946.hp2 |
a0026a0041 | a0026c0058a0041c0045 | a0026c0058t0001a0041c0045t0001 | a0026c0058t0001g0074a0041c0045t0001g0110 | 2 | 212 | 0.0094 | 0 | c.481 others(4): Show |
p.His others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 71/76 | 5401/6534 | 4814/5748 | 1605/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97246019 | A | C | missense_variant | MODERATE | HG00099.hp2 HG00558.hp1 HG01099.hp1 others(9): Show |
a0007a0014 | a0007c0007a0014c0014 | a0007c0007t0001a0014c0014t0001 | a0007c0007t0001g0137a0007c0007t0001g0138a0007c0007t0001g0139others(9): Show | 12 | 212 | 0.0566 | 0 | c.535 others(4): Show |
p.Asn others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 71/76 | 5941/6534 | 5354/5748 | 1785/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97247504 | G | A | missense_variant | MODERATE | NA19088.hp2 | a0038 | a0038c0042 | a0038c0042t0001 | a0038c0042t0001g0094 | 1 | 212 | 0.0047 | 0 | c.543 others(4): Show |
p.Arg others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 72/76 | 6022/6534 | 5435/5748 | 1812/1915 | chr2 | TogoVar | ||
ANKRD36_chr2_97108153_97269521 | 97250158 | T | G | missense_variant | MODERATE | NA20129.hp2 | a0044 | a0044c0038 | a0044c0038t0001 | a0044c0038t0001g0067 | 1 | 212 | 0.0047 | 0 | c.573 others(4): Show |
p.Phe others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 75/76 | 6326/6534 | 5739/5748 | 1913/1915 | chr2 | TogoVar | ||
ANKRD37_chr4_185391841_185405241 | 185397193 | A | G | missense_variant | MODERATE | HG02165.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0001 | 1 | 318 | 0.0031 | 0 | c.71A others(2): Show |
p.Asn others(5): Show |
ANKRD37 | ENSG00000186352.9 | transcript | ENST00000335174.6 | protein_coding | 2/5 | 154/784 | 71/477 | 24/158 | chr4 | TogoVar | ||
ANKRD37_chr4_185391841_185405241 | 185399647 | C | A | missense_variant | MODERATE | HG02109.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0024 | 1 | 318 | 0.0031 | 0 | c.350 others(3): Show |
p.Thr others(6): Show |
ANKRD37 | ENSG00000186352.9 | transcript | ENST00000335174.6 | protein_coding | 4/5 | 433/784 | 350/477 | 117/158 | chr4 | TogoVar | ||
ANKRD37_chr4_185391841_185405241 | 185399736 | G | A | missense_variant | MODERATE | HG03017.hp2 HG03710.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006a0003c0004t0001g0011 | 2 | 318 | 0.0063 | 0 | c.439 others(3): Show |
p.Gly others(6): Show |
ANKRD37 | ENSG00000186352.9 | transcript | ENST00000335174.6 | protein_coding | 4/5 | 522/784 | 439/477 | 147/158 | chr4 | TogoVar | ||
ANKRD37_chr4_185391841_185405241 | 185399752 | C | G | missense_variant | MODERATE | HG00544.hp1 HG01109.hp2 HG01884.hp1 others(39): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0001a0004c0006t0001 | a0002c0003t0001g0003a0002c0003t0001g0009a0002c0003t0001g0010others(4): Show | 42 | 318 | 0.1321 | 0 | c.455 others(3): Show |
p.Thr others(6): Show |
ANKRD37 | ENSG00000186352.9 | transcript | ENST00000335174.6 | protein_coding | 4/5 | 538/784 | 455/477 | 152/158 | chr4 | TogoVar | ||
ANKRD39_chr2_96842990_96863016 | 96848354 | C | G | missense_variant | MODERATE | NA18951.hp1 NA18988.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069a0002c0002t0001g0075 | 2 | 314 | 0.0064 | 0 | c.499 others(3): Show |
p.Ala others(6): Show |
ANKRD39 | ENSG00000213337.9 | transcript | ENST00000393537.5 | protein_coding | 4/4 | 528/892 | 499/552 | 167/183 | chr2 | TogoVar | ||
ANKRD39_chr2_96842990_96863016 | 96853468 | C | T | missense_variant | MODERATE | HG02055.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 314 | 0.0032 | 0 | c.341 others(3): Show |
p.Arg others(6): Show |
ANKRD39 | ENSG00000213337.9 | transcript | ENST00000393537.5 | protein_coding | 3/4 | 370/892 | 341/552 | 114/183 | chr2 | TogoVar | ||
ANKRD39_chr2_96842990_96863016 | 96854342 | G | C | missense_variant | MODERATE | HG03710.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0102 | 1 | 314 | 0.0032 | 0 | c.200 others(3): Show |
p.Ala others(5): Show |
ANKRD39 | ENSG00000213337.9 | transcript | ENST00000393537.5 | protein_coding | 2/4 | 229/892 | 200/552 | 67/183 | chr2 | TogoVar | ||
ANKRD39_chr2_96842990_96863016 | 96857983 | G | A | missense_variant | MODERATE | HG01346.hp2 HG03710.hp1 |
a0004a0005 | a0004c0007a0005c0008 | a0004c0007t0001a0005c0008t0001 | a0004c0007t0001g0101a0005c0008t0001g0102 | 2 | 314 | 0.0064 | 0 | c.5C> others(1): Show |
p.Ala others(4): Show |
ANKRD39 | ENSG00000213337.9 | transcript | ENST00000393537.5 | protein_coding | 1/4 | 34/892 | 5/552 | 2/183 | chr2 | TogoVar | ||
ANKRD40CL_chr17_50756030_50772518 | 50766903 | G | C | missense_variant | MODERATE | NA18949.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0064 | 1 | 456 | 0.0022 | 0 | c.11C others(2): Show |
p.Pro others(4): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 2/4 | 165/832 | 11/345 | 4/114 | chr17 | TogoVar | ||
ANKRD40_chr17_50688198_50712914 | 50699507 | G | C | missense_variant | MODERATE | NA18943.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0156 | 1 | 390 | 0.0026 | 0 | c.670 others(3): Show |
p.Pro others(6): Show |
ANKRD40 | ENSG00000154945.7 | transcript | ENST00000285243.7 | protein_coding | 3/5 | 930/4166 | 670/1107 | 224/368 | chr17 | TogoVar | ||
ANKRD40_chr17_50688198_50712914 | 50699525 | A | G | missense_variant | MODERATE | HG02135.hp2 HG02273.hp2 NA18957.hp1 others(11): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0014 | a0003c0003t0002g0007a0003c0003t0002g0033a0003c0003t0002g0220others(3): Show | 14 | 390 | 0.0359 | 0 | c.652 others(3): Show |
p.Ser others(6): Show |
ANKRD40 | ENSG00000154945.7 | transcript | ENST00000285243.7 | protein_coding | 3/5 | 912/4166 | 652/1107 | 218/368 | chr17 | TogoVar | ||
ANKRD40_chr17_50688198_50712914 | 50699761 | T | G | missense_variant | MODERATE | NA18994.hp1 NA19080.hp1 |
a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0063a0005c0004t0003g0098 | 2 | 390 | 0.0051 | 0 | c.416 others(3): Show |
p.Asp others(6): Show |
ANKRD40 | ENSG00000154945.7 | transcript | ENST00000285243.7 | protein_coding | 3/5 | 676/4166 | 416/1107 | 139/368 | chr17 | TogoVar | ||
ANKRD40_chr17_50688198_50712914 | 50707573 | T | C | missense_variant | MODERATE | HG02015.hp1 NA19091.hp2 |
a0004 | a0004c0005 | a0004c0005t0006a0004c0005t0032 | a0004c0005t0006g0192a0004c0005t0032g0193 | 2 | 390 | 0.0051 | 0 | c.82A others(2): Show |
p.Lys others(5): Show |
ANKRD40 | ENSG00000154945.7 | transcript | ENST00000285243.7 | protein_coding | 1/5 | 342/4166 | 82/1107 | 28/368 | chr17 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83206062 | T | G | missense_variant | MODERATE | NA18951.hp2 | a0008 | a0008c0005 | a0008c0005t0003 | a0008c0005t0003g0074 | 1 | 350 | 0.0029 | 0 | c.227 others(3): Show |
p.Leu others(5): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 3/11 | 1186/3310 | 227/1584 | 76/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83206065 | A | T | missense_variant | MODERATE | NA18951.hp2 | a0008 | a0008c0005 | a0008c0005t0003 | a0008c0005t0003g0074 | 1 | 350 | 0.0029 | 0 | c.230 others(3): Show |
p.His others(5): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 3/11 | 1189/3310 | 230/1584 | 77/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83224921 | C | T | missense_variant | MODERATE | HG01074.hp1 HG01099.hp2 HG01109.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0016a0002c0003t0018a0002c0003t0026others(1): Show | a0002c0003t0016g0271a0002c0003t0016g0272a0002c0003t0016g0273others(5): Show | 8 | 350 | 0.0229 | 0 | c.653 others(3): Show |
p.Ala others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 6/11 | 1612/3310 | 653/1584 | 218/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83224945 | A | G | missense_variant | MODERATE | HG01891.hp1 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0098 | 1 | 350 | 0.0029 | 0 | c.677 others(3): Show |
p.Asn others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 6/11 | 1636/3310 | 677/1584 | 226/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83240887 | C | G | missense_variant | MODERATE | HG02976.hp1 | a0006 | a0006c0010 | a0006c0010t0014 | a0006c0010t0014g0016 | 1 | 350 | 0.0029 | 0 | c.114 others(4): Show |
p.Ala others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 9/11 | 2107/3310 | 1148/1584 | 383/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83248167 | G | A | missense_variant | MODERATE | HG00558.hp2 HG02071.hp1 NA18948.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004a0003c0004t0001g0112a0003c0004t0001g0191others(1): Show | 4 | 350 | 0.0114 | 0 | c.154 others(4): Show |
p.Gly others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 11/11 | 2506/3310 | 1547/1584 | 516/527 | chr11 | TogoVar | ||
ANKRD42_chr11_83188712_83253971 | 83248196 | C | G | missense_variant | MODERATE | HG03654.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0134 | 1 | 350 | 0.0029 | 0 | c.157 others(4): Show |
p.Leu others(6): Show |
ANKRD42 | ENSG00000137494.14 | transcript | ENST00000533342.6 | protein_coding | 11/11 | 2535/3310 | 1576/1584 | 526/527 | chr11 | TogoVar | ||
ANKRD44_chr2_196981662_197315780 | 197126017 | A | C | missense_variant | MODERATE | HG00738.hp2 HG01071.hp1 HG01361.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0024a0002c0003t0001g0039a0002c0003t0001g0046others(4): Show | 7 | 114 | 0.0614 | 0 | c.282 others(3): Show |
p.Ile others(5): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 5/28 | 458/6087 | 282/2982 | 94/993 | chr2 | TogoVar | ||
ANKRD45_chr1_173603336_173674851 | 173627118 | A | T | missense_variant | MODERATE | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(4): Show | a0002c0002t0002g0024a0002c0002t0002g0039a0002c0002t0002g0040others(54): Show | 59 | 342 | 0.1725 | 0 | c.538 others(3): Show |
p.Leu others(6): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 4/6 | 588/2660 | 538/801 | 180/266 | chr1 | TogoVar | ||
ANKRD45_chr1_173603336_173674851 | 173646918 | G | A | missense_variant | MODERATE | HG03834.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0104 | 1 | 342 | 0.0029 | 0 | c.424 others(3): Show |
p.Arg others(6): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 3/6 | 474/2660 | 424/801 | 142/266 | chr1 | TogoVar | ||
ANKRD45_chr1_173603336_173674851 | 173646957 | G | C | missense_variant | MODERATE | HG01934.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0218 | 1 | 342 | 0.0029 | 0 | c.385 others(3): Show |
p.Leu others(6): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 3/6 | 435/2660 | 385/801 | 129/266 | chr1 | TogoVar | ||
ANKRD45_chr1_173603336_173674851 | 173659407 | T | A | missense_variant | MODERATE | HG01192.hp2 HG02965.hp2 HG03041.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0121a0003c0003t0004g0122a0003c0003t0004g0123others(1): Show | 4 | 342 | 0.0117 | 0 | c.12A others(2): Show |
p.Glu others(4): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 2/6 | 62/2660 | 12/801 | 4/266 | chr1 | TogoVar | ||
ANKRD46_chr8_100515772_100564759 | 100522758 | G | A | missense_variant | MODERATE | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0187 | 1 | 400 | 0.0025 | 0 | c.484 others(3): Show |
p.His others(6): Show |
ANKRD46 | ENSG00000186106.11 | transcript | ENST00000335659.7 | protein_coding | 5/5 | 663/2649 | 484/687 | 162/228 | chr8 | TogoVar | ||
ANKRD46_chr8_100515772_100564759 | 100528001 | T | C | missense_variant others(1): Show |
MODERATE | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0069 | 1 | 400 | 0.0025 | 0 | c.314 others(3): Show |
p.Asn others(6): Show |
ANKRD46 | ENSG00000186106.11 | transcript | ENST00000335659.7 | protein_coding | 4/5 | 493/2649 | 314/687 | 105/228 | chr8 | TogoVar | ||
ANKRD49_chr11_94488984_94504578 | 94496829 | G | A | missense_variant | MODERATE | HG02280.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0001 | 1 | 456 | 0.0022 | 0 | c.136 others(3): Show |
p.Val others(5): Show |
ANKRD49 | ENSG00000168876.9 | transcript | ENST00000544612.6 | protein_coding | 2/3 | 278/1908 | 136/720 | 46/239 | chr11 | TogoVar | ||
ANKRD49_chr11_94488984_94504578 | 94496901 | A | G | missense_variant | MODERATE | NA19068.hp1 | a0004 | a0004c0008 | a0004c0008t0010 | a0004c0008t0010g0022 | 1 | 456 | 0.0022 | 0 | c.208 others(3): Show |
p.Met others(5): Show |
ANKRD49 | ENSG00000168876.9 | transcript | ENST00000544612.6 | protein_coding | 2/3 | 350/1908 | 208/720 | 70/239 | chr11 | TogoVar | ||
ANKRD49_chr11_94488984_94504578 | 94498410 | G | A | missense_variant | MODERATE | HG02818.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0006 | 1 | 456 | 0.0022 | 0 | c.598 others(3): Show |
p.Val others(6): Show |
ANKRD49 | ENSG00000168876.9 | transcript | ENST00000544612.6 | protein_coding | 3/3 | 740/1908 | 598/720 | 200/239 | chr11 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124669228 | T | G | missense_variant | MODERATE | HG02723.hp1 | a0006 | a0006c0013 | a0006c0013t0013 | a0006c0013t0013g0062 | 1 | 382 | 0.0026 | 0 | c.404 others(4): Show |
p.Gln others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 5087/8798 | 4049/4290 | 1350/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124669337 | C | T | missense_variant | MODERATE | HG03471.hp1 | a0007 | a0007c0012 | a0007c0012t0008 | a0007c0012t0008g0244 | 1 | 382 | 0.0026 | 0 | c.394 others(4): Show |
p.Gly others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 4978/8798 | 3940/4290 | 1314/1429 | chr4 | TogoVar | ||
ANKRD50_chr4_124659048_124717732 | 124669825 | C | T | missense_variant | MODERATE | HG01978.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0216 | 1 | 382 | 0.0026 | 0 | c.345 others(4): Show |
p.Arg others(7): Show |
ANKRD50 | ENSG00000151458.12 | transcript | ENST00000504087.6 | protein_coding | 4/5 | 4490/8798 | 3452/4290 | 1151/1429 | chr4 | TogoVar |