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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHNAK2_chr14_104932253_104983374 | 104943627 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.118 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11961/18335 | 11824/17388 | 3942/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943636 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.118 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11952/18335 | 11815/17388 | 3939/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943651 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 NA18963.hp2 others(1): Show |
a0032a0037 | a0032c0021a0037c0026 | a0032c0021t0009a0037c0026t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0037c0026t0001g0041 |
4 | 354 | 0.0113 | 0 | c.118 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11937/18335 | 11800/17388 | 3934/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943657 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.117 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11931/18335 | 11794/17388 | 3932/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943666 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.117 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11922/18335 | 11785/17388 | 3929/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943669 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.117 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11919/18335 | 11782/17388 | 3928/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943683 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02809.hp2 HG03453.hp1 |
a0054a0081a0090 | a0054c0097a0081c0124a0090c0098 | a0054c0097t0002a0081c0124t0002a0090c0098t0002 | a0054c0097t0002g0247 a0081c0124t0002g0246 a0090c0098t0002g0203 |
3 | 354 | 0.0085 | 0 | c.117 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11905/18335 | 11768/17388 | 3923/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943692 | A | G | missense_variant | MODERATE | HG02486.hp2 | a0068 | a0068c0127 | a0068c0127t0002 | a0068c0127t0002g0145 | 1 | 354 | 0.0028 | 0 | c.117 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11896/18335 | 11759/17388 | 3920/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943745 | C | G | missense_variant | MODERATE | HG02280.hp1 HG02630.hp2 HG02723.hp2 others(3): Show |
a0033a0065a0075others(2): Show | a0033c0025a0065c0088a0075c0063others(2): Show | a0033c0025t0001a0065c0088t0001a0075c0063t0001others(2): Show | a0033c0025t0001g0023 a0065c0088t0001g0096 a0075c0063t0001g0111 others(2): Show |
6 | 354 | 0.0169 | 0 | c.117 others(5): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11843/18335 | 11706/17388 | 3902/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943846 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(186): Show |
a0002a0003a0004others(72): Show | a0002c0003a0002c0005a0002c0036others(91): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(94): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(142): Show |
189 | 354 | 0.5339 | 0 | c.116 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11742/18335 | 11605/17388 | 3869/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943942 | C | T | missense_variant | MODERATE | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 354 | 0.0028 | 0 | c.115 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11646/18335 | 11509/17388 | 3837/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104943992 | T | C | missense_variant | MODERATE | HG02698.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0051 | 1 | 354 | 0.0028 | 0 | c.114 others(5): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11596/18335 | 11459/17388 | 3820/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944074 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(186): Show |
a0002a0003a0004others(72): Show | a0002c0003a0002c0005a0002c0036others(91): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(94): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(142): Show |
189 | 354 | 0.5339 | 0 | c.113 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11514/18335 | 11377/17388 | 3793/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944085 | A | C | missense_variant | MODERATE | NA18970.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0056 | 1 | 354 | 0.0028 | 0 | c.113 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11503/18335 | 11366/17388 | 3789/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944119 | C | T | missense_variant | MODERATE | HG02698.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0038 a0002c0003t0002g0218 a0002c0003t0002g0227 |
4 | 354 | 0.0113 | 0 | c.113 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11469/18335 | 11332/17388 | 3778/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944134 | C | T | missense_variant | MODERATE | HG02280.hp1 HG02630.hp2 HG02922.hp1 others(1): Show |
a0033a0065a0075 | a0033c0025a0065c0088a0075c0063 | a0033c0025t0001a0065c0088t0001a0075c0063t0001 | a0033c0025t0001g0023 a0065c0088t0001g0096 a0075c0063t0001g0111 |
4 | 354 | 0.0113 | 0 | c.113 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11454/18335 | 11317/17388 | 3773/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944446 | C | G | missense_variant | MODERATE | NA18950.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0189 | 1 | 354 | 0.0028 | 0 | c.110 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11142/18335 | 11005/17388 | 3669/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944490 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(184): Show |
a0002a0003a0004others(70): Show | a0002c0003a0002c0005a0002c0036others(89): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(92): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(140): Show |
187 | 354 | 0.5282 | 0 | c.109 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11098/18335 | 10961/17388 | 3654/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944742 | T | G | missense_variant | MODERATE | NA18961.hp2 NA19012.hp1 |
a0036 | a0036c0029 | a0036c0029t0001 | a0036c0029t0001g0043 | 2 | 354 | 0.0056 | 0 | c.107 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10846/18335 | 10709/17388 | 3570/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944754 | G | A | missense_variant | MODERATE | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(23): Show |
a0008a0012a0014others(11): Show | a0008c0010a0012c0033a0012c0108others(15): Show | a0008c0010t0003a0012c0033t0003a0012c0108t0003others(15): Show | a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(20): Show |
26 | 354 | 0.0734 | 0 | c.106 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10834/18335 | 10697/17388 | 3566/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944759 | T | G | missense_variant | MODERATE | HG02055.hp2 HG02258.hp2 HG02451.hp2 others(23): Show |
a0008a0012a0014others(11): Show | a0008c0010a0012c0033a0012c0108others(15): Show | a0008c0010t0003a0012c0033t0003a0012c0108t0003others(15): Show | a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(20): Show |
26 | 354 | 0.0734 | 0 | c.106 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10829/18335 | 10692/17388 | 3564/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944773 | C | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.106 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10815/18335 | 10678/17388 | 3560/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944800 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.106 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10788/18335 | 10651/17388 | 3551/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944812 | G | A | missense_variant | MODERATE | HG00642.hp2 HG00738.hp1 |
a0025 | a0025c0030 | a0025c0030t0002 | a0025c0030t0002g0026 | 2 | 354 | 0.0056 | 0 | c.106 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10776/18335 | 10639/17388 | 3547/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944826 | A | G | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.106 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10762/18335 | 10625/17388 | 3542/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944833 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.106 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10755/18335 | 10618/17388 | 3540/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944847 | A | C | missense_variant | MODERATE | HG02280.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0023a0032 | a0023c0016a0032c0021 | a0023c0016t0001a0032c0021t0009 | a0023c0016t0001g0024 a0023c0016t0001g0093 a0032c0021t0009g0058 others(1): Show |
5 | 354 | 0.0141 | 0 | c.106 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10741/18335 | 10604/17388 | 3535/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944874 | G | A | missense_variant | MODERATE | HG01168.hp2 | a0047 | a0047c0094 | a0047c0094t0013 | a0047c0094t0013g0123 | 1 | 348 | 0.0029 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10714/18335 | 10577/17388 | 3526/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944874 | G | T | missense_variant | MODERATE | HG01099.hp2 HG01255.hp2 HG02257.hp1 others(3): Show |
a0020a0050a0063others(1): Show | a0020c0032a0020c0110a0050c0106others(2): Show | a0020c0032t0002a0020c0110t0002a0050c0106t0002others(2): Show | a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 others(3): Show |
6 | 353 | 0.0170 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10714/18335 | 10577/17388 | 3526/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944884 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.105 others(5): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10704/18335 | 10567/17388 | 3523/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944890 | G | T | missense_variant | MODERATE | HG01175.hp2 | a0048 | a0048c0112 | a0048c0112t0002 | a0048c0112t0002g0151 | 1 | 354 | 0.0028 | 0 | c.105 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10698/18335 | 10561/17388 | 3521/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944899 | C | T | missense_variant | MODERATE | HG01168.hp2 HG01175.hp2 HG01256.hp2 others(1): Show |
a0047a0048a0051others(1): Show | a0047c0094a0048c0112a0051c0074others(1): Show | a0047c0094t0013a0048c0112t0002a0051c0074t0001others(1): Show | a0047c0094t0013g0123 a0048c0112t0002g0151 a0051c0074t0001g0190 others(1): Show |
4 | 354 | 0.0113 | 0 | c.105 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10689/18335 | 10552/17388 | 3518/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944923 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00741.hp2 HG01433.hp2 others(10): Show |
a0018a0029a0032others(6): Show | a0018c0037a0018c0134a0029c0024others(7): Show | a0018c0037t0002a0018c0134t0002a0029c0024t0001others(7): Show | a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 others(10): Show |
13 | 354 | 0.0367 | 0 | c.105 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10665/18335 | 10528/17388 | 3510/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944932 | C | T | missense_variant | MODERATE | HG03516.hp1 | a0092 | a0092c0066 | a0092c0066t0001 | a0092c0066t0001g0108 | 1 | 354 | 0.0028 | 0 | c.105 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10656/18335 | 10519/17388 | 3507/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944943 | A | G | missense_variant | MODERATE | HG01891.hp2 | a0056 | a0056c0051 | a0056c0051t0001 | a0056c0051t0001g0097 | 1 | 354 | 0.0028 | 0 | c.105 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10645/18335 | 10508/17388 | 3503/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944949 | G | A | missense_variant | MODERATE | HG01074.hp1 HG01192.hp2 HG01256.hp2 others(5): Show |
a0007a0051 | a0007c0008a0051c0074 | a0007c0008t0001a0007c0008t0014a0051c0074t0001 | a0007c0008t0001g0010 a0007c0008t0001g0189 a0007c0008t0001g0193 others(2): Show |
8 | 354 | 0.0226 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10639/18335 | 10502/17388 | 3501/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944950 | G | A | missense_variant | MODERATE | HG01074.hp1 HG01192.hp2 HG01256.hp2 others(5): Show |
a0007a0051 | a0007c0008a0051c0074 | a0007c0008t0001a0007c0008t0014a0051c0074t0001 | a0007c0008t0001g0010 a0007c0008t0001g0189 a0007c0008t0001g0193 others(2): Show |
8 | 354 | 0.0226 | 0 | c.105 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10638/18335 | 10501/17388 | 3501/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944956 | A | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.104 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10632/18335 | 10495/17388 | 3499/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944965 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.104 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10623/18335 | 10486/17388 | 3496/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944975 | G | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.104 others(5): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10613/18335 | 10476/17388 | 3492/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944982 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.104 others(5): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10606/18335 | 10469/17388 | 3490/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104944997 | A | G | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 353 | 0.0028 | 0 | c.104 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10591/18335 | 10454/17388 | 3485/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945001 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.104 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10587/18335 | 10450/17388 | 3484/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945003 | A | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.104 others(5): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10585/18335 | 10448/17388 | 3483/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945055 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 0.0056 | 0 | c.103 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10533/18335 | 10396/17388 | 3466/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945056 | A | C | missense_variant | MODERATE | NA19085.hp1 | a0113 | a0113c0065 | a0113c0065t0001 | a0113c0065t0001g0236 | 1 | 352 | 0.0028 | 0 | c.103 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10532/18335 | 10395/17388 | 3465/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945062 | T | G | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0032a0079a0113 | a0032c0021a0079c0043a0113c0065 | a0032c0021t0009a0079c0043t0001a0113c0065t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 others(1): Show |
4 | 354 | 0.0113 | 0 | c.103 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10526/18335 | 10389/17388 | 3463/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945112 | T | C | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0079 | a0032c0021a0079c0043 | a0032c0021t0009a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 |
3 | 354 | 0.0085 | 0 | c.103 others(5): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10476/18335 | 10339/17388 | 3447/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945121 | G | C | missense_variant | MODERATE | HG02723.hp2 HG02896.hp1 HG02897.hp2 |
a0032a0079 | a0032c0021a0079c0043 | a0032c0021t0009a0079c0043t0001 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0079c0043t0001g0074 |
3 | 354 | 0.0085 | 0 | c.103 others(5): Show |
p.Gln others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10467/18335 | 10330/17388 | 3444/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104945136 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 0.0028 | 0 | c.103 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10452/18335 | 10315/17388 | 3439/5795 | chr14 | TogoVar |