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 | 104938197 | C | T | missense_variant | MODERATE | HG01884.hp1 HG02809.hp2 HG03453.hp1 |
a0054a0081a0090 | a0054c0097a0081c0124a0090c0098 | a0054c0097t0002a0081c0124t0002a0090c0098t0002 | a0054c0097t0002g0247 a0081c0124t0002g0246 a0090c0098t0002g0203 |
3 | 354 | 0.0085 | 0 | c.172 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 17391/18335 | 17254/17388 | 5752/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104938256 | G | A | 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.171 others(5): Show |
p.Thr others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 17332/18335 | 17195/17388 | 5732/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104938518 | G | A | missense_variant | MODERATE | HG00741.hp2 | a0044 | a0044c0131 | a0044c0131t0002 | a0044c0131t0002g0070 | 1 | 354 | 0.0028 | 0 | c.169 others(5): Show |
p.Leu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 17070/18335 | 16933/17388 | 5645/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104938523 | C | A | missense_variant | MODERATE | NA18966.hp2 | a0104 | a0104c0149 | a0104c0149t0002 | a0104c0149t0002g0185 | 1 | 354 | 0.0028 | 0 | c.169 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 17065/18335 | 16928/17388 | 5643/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104938607 | G | A | missense_variant | MODERATE | HG00735.hp1 | a0043 | a0043c0086 | a0043c0086t0001 | a0043c0086t0001g0086 | 1 | 354 | 0.0028 | 0 | c.168 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 16981/18335 | 16844/17388 | 5615/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104938739 | C | G | missense_variant | MODERATE | NA18968.hp2 | a0105 | a0105c0115 | a0105c0115t0002 | a0105c0115t0002g0177 | 1 | 354 | 0.0028 | 0 | c.167 others(5): Show |
p.Gly others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 16849/18335 | 16712/17388 | 5571/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104938943 | T | A | missense_variant | MODERATE | HG01928.hp2 | a0057 | a0057c0070 | a0057c0070t0001 | a0057c0070t0001g0209 | 1 | 354 | 0.0028 | 0 | c.165 others(5): Show |
p.Glu others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 16645/18335 | 16508/17388 | 5503/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104939262 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(188): Show |
a0002a0003a0004others(73): Show | a0002c0003a0002c0005a0002c0036others(92): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(95): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(144): Show |
191 | 354 | 0.5395 | 0 | c.161 others(5): Show |
p.Pro others(7): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 16326/18335 | 16189/17388 | 5397/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104939687 | G | C | missense_variant | MODERATE | HG02486.hp2 | a0068 | a0068c0127 | a0068c0127t0002 | a0068c0127t0002g0145 | 1 | 354 | 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 | a0069 | a0069c0136 | a0069c0136t0002 | a0069c0136t0002g0257 | 1 | 354 | 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 |
a0024 | a0024c0027 | a0024c0027t0001 | a0024c0027t0001g0025 | 2 | 354 | 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(197): Show |
a0002a0003a0004others(81): Show | a0002c0003a0002c0005a0002c0036others(100): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(103): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(152): Show |
200 | 354 | 0.5650 | 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(71): Show |
a0002a0009a0018others(24): Show | a0002c0003a0002c0005a0002c0036others(34): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(36): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(52): Show |
74 | 354 | 0.2090 | 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 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 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 |
a0021a0023a0080 | a0021c0062a0023c0016a0080c0061 | a0021c0062t0001a0023c0016t0001a0080c0061t0001 | a0021c0062t0001g0107 a0023c0016t0001g0024 a0023c0016t0001g0093 others(1): Show |
5 | 354 | 0.0141 | 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 |
a0004a0010a0047 | a0004c0006a0010c0012a0047c0094 | a0004c0006t0004a0010c0012t0006a0047c0094t0013 | a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(10): Show |
16 | 354 | 0.0452 | 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 |
a0004a0010a0047 | a0004c0006a0010c0012a0047c0094 | a0004c0006t0004a0010c0012t0006a0047c0094t0013 | a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(10): Show |
16 | 354 | 0.0452 | 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 | a0053 | a0053c0071 | a0053c0071t0001 | a0053c0071t0001g0095 | 1 | 354 | 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 | a0079 | a0079c0043 | a0079c0043t0001 | a0079c0043t0001g0074 | 1 | 354 | 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 | a0081 | a0081c0124 | a0081c0124t0002 | a0081c0124t0002g0246 | 1 | 354 | 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(187): Show |
a0002a0003a0004others(72): Show | a0002c0003a0002c0005a0002c0036others(91): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(94): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(143): Show |
190 | 354 | 0.5367 | 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 | a0085 | a0085c0084 | a0085c0084t0002 | a0085c0084t0002g0100 | 1 | 354 | 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 | a0076 | a0076c0046 | a0076c0046t0003 | a0076c0046t0003g0110 | 1 | 354 | 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 |
a0007a0051 | a0007c0008a0051c0074 | a0007c0008t0001a0007c0008t0014a0051c0074t0001 | a0007c0008t0001g0010 a0007c0008t0001g0189 a0007c0008t0001g0193 others(2): Show |
8 | 354 | 0.0226 | 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(168): Show |
a0002a0003a0005others(67): Show | a0002c0003a0002c0005a0002c0036others(86): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(89): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(127): Show |
171 | 354 | 0.4831 | 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 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 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 |
a0017 | a0017c0013 | a0017c0013t0002 | a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 others(1): Show |
4 | 354 | 0.0113 | 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 |
a0054a0081a0090 | a0054c0097a0081c0124a0090c0098 | a0054c0097t0002a0081c0124t0002a0090c0098t0002 | a0054c0097t0002g0247 a0081c0124t0002g0246 a0090c0098t0002g0203 |
3 | 354 | 0.0085 | 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 | a0085 | a0085c0084 | a0085c0084t0002 | a0085c0084t0002g0100 | 1 | 354 | 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 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 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 |
a0029a0083 | a0029c0024a0083c0073 | a0029c0024t0001a0083c0073t0001 | a0029c0024t0001g0087 a0029c0024t0001g0248 a0083c0073t0001g0094 |
3 | 354 | 0.0085 | 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 | a0034 | a0034c0031 | a0034c0031t0002 | a0034c0031t0002g0188 | 1 | 354 | 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 |
a0022 | a0022c0020 | a0022c0020t0002 | a0022c0020t0002g0015 | 3 | 354 | 0.0085 | 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(183): Show |
a0002a0003a0004others(73): Show | a0002c0003a0002c0005a0002c0036others(91): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(94): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(141): Show |
186 | 354 | 0.5254 | 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 |
a0087a0098 | a0087c0087a0098c0100 | a0087c0087t0001a0098c0100t0001 | a0087c0087t0001g0103 a0098c0100t0001g0217 |
2 | 354 | 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(176): Show |
a0002a0003a0004others(67): Show | a0002c0003a0002c0005a0002c0036others(85): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(88): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(135): Show |
179 | 354 | 0.5057 | 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(193): Show |
a0002a0003a0004others(77): Show | a0002c0003a0002c0005a0002c0036others(96): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(99): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(148): Show |
196 | 354 | 0.5537 | 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 | a0111 | a0111c0052 | a0111c0052t0002 | a0111c0052t0002g0146 | 1 | 354 | 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 | a0059 | a0059c0078 | a0059c0078t0002 | a0059c0078t0002g0099 | 1 | 354 | 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 |
a0030 | a0030c0028 | a0030c0028t0001 | a0030c0028t0001g0027 | 2 | 354 | 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 |
a0042a0062 | a0042c0143a0062c0125 | a0042c0143t0002a0062c0125t0002 | a0042c0143t0002g0076 a0062c0125t0002g0078 |
2 | 354 | 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 | a0074 | a0074c0103 | a0074c0103t0002 | a0074c0103t0002g0080 | 1 | 354 | 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 | a0049 | a0049c0135 | a0049c0135t0002 | a0049c0135t0002g0073 | 1 | 354 | 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 |
a0032a0096 | a0032c0021a0096c0121 | a0032c0021t0009a0096c0121t0002 | a0032c0021t0009g0058 a0032c0021t0009g0059 a0096c0121t0002g0171 |
3 | 354 | 0.0085 | 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 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 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 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 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 |
a0033a0065a0075 | a0033c0025a0065c0088a0075c0063 | a0033c0025t0001a0065c0088t0001a0075c0063t0001 | a0033c0025t0001g0023 a0065c0088t0001g0096 a0075c0063t0001g0111 |
4 | 354 | 0.0113 | 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(60): Show |
a0002a0009a0018others(14): Show | a0002c0003a0002c0005a0002c0036others(23): Show | a0002c0003t0002a0002c0003t0007a0002c0005t0002others(25): Show | a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(41): Show |
63 | 354 | 0.1780 | 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 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 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 |
a0032 | a0032c0021 | a0032c0021t0009 | a0032c0021t0009g0058 a0032c0021t0009g0059 |
2 | 354 | 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 |