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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHNAK2_chr14_104932253_104983374 | 104939687 | G | C | missense_variant | MODERATE | HG02486.hp2 | a0196 | a0196c0207 | a0196c0207t0002 | a0196c0207t0002g0153 | 1 | 356 | 0.0028 | 0 | c.157 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 15901/18335 | 15764/17388 | 5255/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104939864 | C | T | missense_variant | MODERATE | HG02572.hp1 | a0108 | a0108c0218 | a0108c0218t0002 | a0108c0218t0002g0303 | 1 | 356 | 0.0028 | 0 | c.155 others(5): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 15724/18335 | 15587/17388 | 5196/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104939898 | A | C | missense_variant | MODERATE | HG00140.hp1 HG02735.hp1 |
a0049 | a0049c0118a0049c0127 | a0049c0118t0001a0049c0127t0001 | a0049c0118t0001g0099a0049c0127t0001g0103 | 2 | 356 | 0.0056 | 0 | c.155 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 15690/18335 | 15553/17388 | 5185/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104939901 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(198): Show |
a0001a0004a0006others(122): Show | a0001c0001a0001c0003a0001c0045others(139): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(139): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(165): Show | 201 | 356 | 0.5646 | 0 | c.155 others(5): Show |
p.Tyr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 15687/18335 | 15550/17388 | 5184/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104940035 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(72): Show |
a0001a0011a0021others(38): Show | a0001c0001a0001c0003a0001c0045others(46): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(46): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(56): Show | 75 | 356 | 0.2107 | 0 | c.154 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 15553/18335 | 15416/17388 | 5139/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104940237 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.152 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 15351/18335 | 15214/17388 | 5072/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104940916 | G | T | missense_variant | MODERATE | HG02280.hp2 HG02647.hp1 HG02809.hp1 others(2): Show |
a0137a0138a0141others(2): Show | a0137c0094a0138c0095a0141c0092others(2): Show | a0137c0094t0001a0138c0095t0001a0141c0092t0001others(2): Show | a0137c0094t0001g0111a0138c0095t0001g0112a0141c0092t0001g0096others(2): Show | 5 | 356 | 0.0140 | 0 | c.145 others(5): Show |
p.His others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14672/18335 | 14535/17388 | 4845/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104940990 | G | A | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG01099.hp1 others(13): Show |
a0004a0016a0056others(3): Show | a0004c0005a0004c0157a0004c0158others(6): Show | a0004c0005t0004a0004c0157t0004a0004c0158t0004others(6): Show | a0004c0005t0004g0010a0004c0005t0004g0011a0004c0005t0004g0040others(11): Show | 16 | 356 | 0.0449 | 0 | c.144 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14598/18335 | 14461/17388 | 4821/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941188 | G | A | missense_variant | MODERATE | HG00438.hp2 HG00558.hp1 HG01099.hp1 others(13): Show |
a0004a0016a0056others(3): Show | a0004c0005a0004c0157a0004c0158others(6): Show | a0004c0005t0004a0004c0157t0004a0004c0158t0004others(6): Show | a0004c0005t0004g0010a0004c0005t0004g0011a0004c0005t0004g0040others(11): Show | 16 | 356 | 0.0449 | 0 | c.142 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14400/18335 | 14263/17388 | 4755/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941264 | T | C | missense_variant | MODERATE | HG01496.hp2 | a0177 | a0177c0119 | a0177c0119t0001 | a0177c0119t0001g0089 | 1 | 356 | 0.0028 | 0 | c.141 others(5): Show |
p.Ile others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14324/18335 | 14187/17388 | 4729/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941329 | T | C | missense_variant | MODERATE | HG02723.hp2 | a0204 | a0204c0053 | a0204c0053t0001 | a0204c0053t0001g0065 | 1 | 356 | 0.0028 | 0 | c.141 others(5): Show |
p.Lys others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14259/18335 | 14122/17388 | 4708/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941339 | A | C | missense_variant | MODERATE | HG02809.hp2 | a0098 | a0098c0204 | a0098c0204t0002 | a0098c0204t0002g0292 | 1 | 356 | 0.0028 | 0 | c.141 others(5): Show |
p.Phe others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14249/18335 | 14112/17388 | 4704/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941461 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(188): Show |
a0001a0004a0006others(113): Show | a0001c0001a0001c0003a0001c0045others(130): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(130): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(156): Show | 191 | 356 | 0.5365 | 0 | c.139 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 14127/18335 | 13990/17388 | 4664/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941593 | C | A | missense_variant | MODERATE | HG02976.hp2 | a0130 | a0130c0075 | a0130c0075t0002 | a0130c0075t0002g0093 | 1 | 356 | 0.0028 | 0 | c.138 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13995/18335 | 13858/17388 | 4620/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941628 | G | A | missense_variant | MODERATE | HG02647.hp2 | a0208 | a0208c0056 | a0208c0056t0003 | a0208c0056t0003g0115 | 1 | 356 | 0.0028 | 0 | c.138 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13960/18335 | 13823/17388 | 4608/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941640 | A | G | missense_variant | MODERATE | HG01074.hp1 HG01192.hp2 HG01256.hp2 others(5): Show |
a0039a0041a0134others(3): Show | a0039c0028a0041c0083a0041c0099others(4): Show | a0039c0028t0001a0039c0028t0014a0041c0083t0001others(5): Show | a0039c0028t0001g0214a0039c0028t0014g0215a0041c0083t0001g0216others(5): Show | 8 | 356 | 0.0225 | 0 | c.138 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13948/18335 | 13811/17388 | 4604/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941845 | T | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(169): Show |
a0001a0006a0009others(105): Show | a0001c0001a0001c0003a0001c0045others(119): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(119): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(139): Show | 172 | 356 | 0.4832 | 0 | c.136 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13743/18335 | 13606/17388 | 4536/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941997 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.134 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13591/18335 | 13454/17388 | 4485/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104941998 | A | G | missense_variant | MODERATE | NA18952.hp1 NA18959.hp2 NA18964.hp2 others(1): Show |
a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0176a0010c0011t0002g0179a0010c0011t0002g0204others(1): Show | 4 | 356 | 0.0112 | 0 | c.134 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13590/18335 | 13453/17388 | 4485/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942004 | C | T | missense_variant | MODERATE | HG01884.hp1 HG02809.hp2 HG03453.hp1 |
a0061a0062a0098 | a0061c0166a0062c0167a0098c0204 | a0061c0166t0002a0062c0167t0002a0098c0204t0002 | a0061c0166t0002g0293a0062c0167t0002g0230a0098c0204t0002g0292 | 3 | 356 | 0.0084 | 0 | c.134 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13584/18335 | 13447/17388 | 4483/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942093 | T | A | missense_variant | MODERATE | HG02976.hp2 | a0130 | a0130c0075 | a0130c0075t0002 | a0130c0075t0002g0093 | 1 | 356 | 0.0028 | 0 | c.133 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13495/18335 | 13358/17388 | 4453/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942125 | A | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.133 others(5): Show |
p.Ser others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13463/18335 | 13326/17388 | 4442/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942183 | T | A | missense_variant | MODERATE | HG02055.hp1 HG02965.hp2 HG03139.hp2 |
a0037a0150 | a0037c0029a0150c0082 | a0037c0029t0001a0150c0082t0001 | a0037c0029t0001g0079a0037c0029t0001g0294a0150c0082t0001g0088 | 3 | 356 | 0.0084 | 0 | c.132 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13405/18335 | 13268/17388 | 4423/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942416 | G | C | missense_variant | MODERATE | NA20129.hp1 | a0069 | a0069c0184 | a0069c0184t0002 | a0069c0184t0002g0209 | 1 | 356 | 0.0028 | 0 | c.130 others(5): Show |
p.His others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13172/18335 | 13035/17388 | 4345/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942468 | A | G | missense_variant | MODERATE | HG02056.hp1 NA18954.hp1 NA19012.hp2 |
a0020 | a0020c0018 | a0020c0018t0002 | a0020c0018t0002g0009 | 3 | 356 | 0.0084 | 0 | c.129 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13120/18335 | 12983/17388 | 4328/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942474 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(184): Show |
a0001a0004a0006others(111): Show | a0001c0001a0001c0003a0001c0045others(127): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(127): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(153): Show | 187 | 356 | 0.5253 | 0 | c.129 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13114/18335 | 12977/17388 | 4326/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942477 | G | A | missense_variant | MODERATE | HG03130.hp2 HG06807.hp1 |
a0063a0159 | a0063c0168a0159c0141 | a0063c0168t0001a0159c0141t0001 | a0063c0168t0001g0248a0159c0141t0001g0108 | 2 | 356 | 0.0056 | 0 | c.129 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13111/18335 | 12974/17388 | 4325/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942490 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(177): Show |
a0001a0004a0006others(105): Show | a0001c0001a0001c0003a0001c0045others(121): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(121): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(147): Show | 180 | 356 | 0.5056 | 0 | c.129 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 13098/18335 | 12961/17388 | 4321/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942618 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(194): Show |
a0001a0004a0006others(118): Show | a0001c0001a0001c0003a0001c0045others(135): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(135): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(161): Show | 197 | 356 | 0.5534 | 0 | c.128 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12970/18335 | 12833/17388 | 4278/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942682 | C | T | missense_variant | MODERATE | NA19030.hp2 | a0100 | a0100c0062 | a0100c0062t0002 | a0100c0062t0002g0154 | 1 | 356 | 0.0028 | 0 | c.127 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12906/18335 | 12769/17388 | 4257/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942702 | G | A | missense_variant | MODERATE | HG02004.hp1 | a0183 | a0183c0130 | a0183c0130t0002 | a0183c0130t0002g0105 | 1 | 356 | 0.0028 | 0 | c.127 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12886/18335 | 12749/17388 | 4250/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104942846 | G | A | missense_variant | MODERATE | HG02056.hp2 NA18941.hp1 |
a0042 | a0042c0026 | a0042c0026t0001 | a0042c0026t0001g0021 | 2 | 356 | 0.0056 | 0 | c.126 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12742/18335 | 12605/17388 | 4202/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943018 | C | T | missense_variant | MODERATE | HG00733.hp1 HG02109.hp1 |
a0055a0205 | a0055c0205a0205c0245 | a0055c0205t0002a0205c0245t0002 | a0055c0205t0002g0069a0205c0245t0002g0067 | 2 | 356 | 0.0056 | 0 | c.124 others(5): Show |
p.Val others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12570/18335 | 12433/17388 | 4145/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943146 | T | A | missense_variant | MODERATE | HG02630.hp1 | a0068 | a0068c0169 | a0068c0169t0002 | a0068c0169t0002g0071 | 1 | 356 | 0.0028 | 0 | c.123 others(5): Show |
p.Asp others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12442/18335 | 12305/17388 | 4102/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943392 | G | A | missense_variant | MODERATE | HG01255.hp1 | a0115 | a0115c0217 | a0115c0217t0002 | a0115c0217t0002g0064 | 1 | 356 | 0.0028 | 0 | c.120 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12196/18335 | 12059/17388 | 4020/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943471 | T | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 HG03942.hp1 |
a0028a0086 | a0028c0019a0086c0188 | a0028c0019t0009a0086c0188t0002 | a0028c0019t0009g0049a0028c0019t0009g0050a0086c0188t0002g0182 | 3 | 356 | 0.0084 | 0 | c.119 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12117/18335 | 11980/17388 | 3994/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943485 | G | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.119 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12103/18335 | 11966/17388 | 3989/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943492 | T | C | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.119 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12096/18335 | 11959/17388 | 3987/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943566 | G | A | missense_variant | MODERATE | HG02280.hp1 HG02630.hp2 HG02922.hp1 others(1): Show |
a0036a0133a0191 | a0036c0030a0133c0097a0191c0150 | a0036c0030t0001a0133c0097t0001a0191c0150t0001 | a0036c0030t0001g0018a0133c0097t0001g0116a0191c0150t0001g0090 | 4 | 356 | 0.0112 | 0 | c.118 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12022/18335 | 11885/17388 | 3962/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943570 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(61): Show |
a0001a0011a0021others(27): Show | a0001c0001a0001c0003a0001c0045others(35): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(35): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(45): Show | 64 | 356 | 0.1798 | 0 | c.118 others(5): Show |
p.Met others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 12018/18335 | 11881/17388 | 3961/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943605 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.118 others(5): Show |
p.Arg others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11983/18335 | 11846/17388 | 3949/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943608 | G | A | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | 0 | c.118 others(5): Show |
p.Ala others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 11980/18335 | 11843/17388 | 3948/5795 | chr14 | TogoVar | ||
AHNAK2_chr14_104932253_104983374 | 104943627 | C | T | missense_variant | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 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 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 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 |
a0028a0047 | a0028c0019a0047c0106a0047c0111 | a0028c0019t0009a0047c0106t0001a0047c0111t0001 | a0028c0019t0009g0049a0028c0019t0009g0050a0047c0106t0001g0273others(1): Show | 4 | 356 | 0.0112 | 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 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 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 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 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 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 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 |
a0061a0062a0098 | a0061c0166a0062c0167a0098c0204 | a0061c0166t0002a0062c0167t0002a0098c0204t0002 | a0061c0166t0002g0293a0062c0167t0002g0230a0098c0204t0002g0292 | 3 | 356 | 0.0084 | 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 | a0196 | a0196c0207 | a0196c0207t0002 | a0196c0207t0002g0153 | 1 | 356 | 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 |