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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGAP4_chr10_45820594_45852500 | 45826432 | C | T | missense_variant | MODERATE | HG01070.hp2 HG01257.hp2 HG02015.hp1 others(14): Show |
a0007a0009a0025others(1): Show | a0007c0008a0009c0012a0025c0044others(1): Show | a0007c0008t0001a0009c0012t0001a0025c0044t0001others(1): Show | a0007c0008t0001g0031a0007c0008t0001g0197a0007c0008t0001g0199others(11): Show | 17 | 382 | 0.0445 | 0 | c.154 others(4): Show |
p.Arg others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1697/2535 | 1544/2061 | 515/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826456 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(363): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0003a0001c0016others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0032others(279): Show | 366 | 382 | 0.9581 | 0 | c.152 others(4): Show |
p.Arg others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1673/2535 | 1520/2061 | 507/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826589 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(171): Show |
a0002a0003a0006others(15): Show | a0002c0002a0002c0014a0002c0018others(21): Show | a0002c0002t0001a0002c0002t0006a0002c0014t0001others(22): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(124): Show | 174 | 382 | 0.4555 | 0 | c.138 others(4): Show |
p.Lys others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1540/2535 | 1387/2061 | 463/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826649 | G | C | missense_variant | MODERATE | HG00140.hp2 HG00544.hp1 HG00558.hp2 others(120): Show |
a0002a0012a0016others(6): Show | a0002c0002a0002c0014a0002c0018others(10): Show | a0002c0002t0001a0002c0002t0006a0002c0014t0001others(11): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(79): Show | 123 | 382 | 0.3220 | 0 | c.132 others(4): Show |
p.Leu others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1480/2535 | 1327/2061 | 443/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826802 | G | A | missense_variant | MODERATE | HG00323.hp2 HG01175.hp1 |
a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0105a0017c0021t0001g0110 | 2 | 382 | 0.0052 | 0 | c.117 others(4): Show |
p.Pro others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1327/2535 | 1174/2061 | 392/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826819 | C | A | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(3): Show |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(2): Show | 6 | 382 | 0.0157 | 0 | c.115 others(4): Show |
p.Ser others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1310/2535 | 1157/2061 | 386/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826820 | T | C | missense_variant | MODERATE | NA18973.hp2 NA18979.hp1 |
a0024a0036 | a0024c0051a0036c0031 | a0024c0051t0001a0036c0031t0005 | a0024c0051t0001g0152a0036c0031t0005g0090 | 2 | 382 | 0.0052 | 0 | c.115 others(4): Show |
p.Ser others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1309/2535 | 1156/2061 | 386/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826868 | C | T | missense_variant | MODERATE | NA18964.hp2 NA18966.hp2 NA18970.hp1 others(3): Show |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0013a0009c0012t0001g0283a0009c0012t0001g0284others(1): Show | 6 | 382 | 0.0157 | 0 | c.110 others(4): Show |
p.Gly others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1261/2535 | 1108/2061 | 370/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826891 | C | T | missense_variant | MODERATE | HG00597.hp2 NA18973.hp2 NA19057.hp1 |
a0016a0036 | a0016c0022a0036c0031 | a0016c0022t0001a0036c0031t0005 | a0016c0022t0001g0118a0016c0022t0001g0148a0036c0031t0005g0090 | 3 | 382 | 0.0079 | 0 | c.108 others(4): Show |
p.Gly others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1238/2535 | 1085/2061 | 362/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826895 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(3): Show |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(2): Show | 6 | 382 | 0.0157 | 0 | c.108 others(4): Show |
p.Asn others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1234/2535 | 1081/2061 | 361/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826906 | G | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(223): Show |
a0002a0003a0004others(23): Show | a0002c0002a0002c0014a0002c0018others(32): Show | a0002c0002t0001a0002c0002t0006a0002c0014t0001others(33): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(167): Show | 226 | 382 | 0.5916 | 0 | c.107 others(4): Show |
p.Thr others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1223/2535 | 1070/2061 | 357/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826919 | T | C | missense_variant | MODERATE | NA18957.hp1 NA18973.hp2 |
a0023a0036 | a0023c0047a0036c0031 | a0023c0047t0001a0036c0031t0005 | a0023c0047t0001g0250a0036c0031t0005g0090 | 2 | 382 | 0.0052 | 0 | c.105 others(4): Show |
p.Thr others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1210/2535 | 1057/2061 | 353/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826927 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(3): Show |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(2): Show | 6 | 382 | 0.0157 | 0 | c.104 others(4): Show |
p.Ser others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1202/2535 | 1049/2061 | 350/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45826937 | G | C | missense_variant | MODERATE | HG02004.hp2 | a0039 | a0039c0026 | a0039c0026t0001 | a0039c0026t0001g0049 | 1 | 382 | 0.0026 | 0 | c.103 others(4): Show |
p.Leu others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1192/2535 | 1039/2061 | 347/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45827042 | C | T | missense_variant | MODERATE | NA18973.hp2 | a0036 | a0036c0031 | a0036c0031t0005 | a0036c0031t0005g0090 | 1 | 382 | 0.0026 | 0 | c.934 others(3): Show |
p.Val others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 1087/2535 | 934/2061 | 312/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45827147 | C | T | missense_variant | MODERATE | HG02723.hp1 | a0032 | a0032c0034 | a0032c0034t0001 | a0032c0034t0001g0067 | 1 | 382 | 0.0026 | 0 | c.829 others(3): Show |
p.Gly others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 982/2535 | 829/2061 | 277/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45827234 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(6): Show |
a0011a0014 | a0011c0010a0014c0019 | a0011c0010t0001a0014c0019t0001 | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(5): Show | 9 | 382 | 0.0236 | 0 | c.742 others(3): Show |
p.Met others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 895/2535 | 742/2061 | 248/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45827364 | T | G | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01106.hp1 others(21): Show |
a0005a0011a0033others(3): Show | a0005c0006a0005c0052a0011c0010others(4): Show | a0005c0006t0001a0005c0052t0001a0011c0010t0001others(4): Show | a0005c0006t0001g0017a0005c0006t0001g0074a0005c0006t0001g0075others(19): Show | 24 | 382 | 0.0628 | 0 | c.612 others(3): Show |
p.Lys others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 765/2535 | 612/2061 | 204/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45827371 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG01123.hp2 others(6): Show |
a0011a0034a0035others(1): Show | a0011c0010a0034c0032a0035c0033others(1): Show | a0011c0010t0001a0034c0032t0001a0035c0033t0001others(1): Show | a0011c0010t0001g0028a0011c0010t0001g0123a0011c0010t0001g0140others(5): Show | 9 | 382 | 0.0236 | 0 | c.605 others(3): Show |
p.Met others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 8/8 | 758/2535 | 605/2061 | 202/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45831428 | C | A | missense_variant others(1): Show |
MODERATE | HG01099.hp1 | a0037 | a0037c0054 | a0037c0054t0001 | a0037c0054t0001g0073 | 1 | 382 | 0.0026 | 0 | c.499 others(3): Show |
p.Val others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 6/8 | 652/2535 | 499/2061 | 167/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45834052 | G | A | missense_variant | MODERATE | HG03669.hp1 HG04184.hp2 |
a0015 | a0015c0023 | a0015c0023t0001 | a0015c0023t0001g0020 | 2 | 382 | 0.0052 | 0 | c.461 others(3): Show |
p.Thr others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 5/8 | 614/2535 | 461/2061 | 154/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45834082 | A | G | missense_variant | MODERATE | NA18973.hp2 | a0036 | a0036c0031 | a0036c0031t0005 | a0036c0031t0005g0090 | 1 | 382 | 0.0026 | 0 | c.431 others(3): Show |
p.Leu others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 5/8 | 584/2535 | 431/2061 | 144/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45841669 | C | A | missense_variant | MODERATE | HG00642.hp2 HG00735.hp2 HG01069.hp2 others(3): Show |
a0012a0039 | a0012c0015a0039c0026 | a0012c0015t0001a0039c0026t0001 | a0012c0015t0001g0169a0012c0015t0001g0170a0012c0015t0001g0171others(3): Show | 6 | 382 | 0.0157 | 0 | c.380 others(3): Show |
p.Ser others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 4/8 | 533/2535 | 380/2061 | 127/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45844368 | G | A | missense_variant | MODERATE | HG01099.hp1 HG01891.hp1 HG01978.hp1 others(13): Show |
a0006a0018a0037 | a0006c0007a0018c0024a0037c0054 | a0006c0007t0001a0018c0024t0001a0037c0054t0001 | a0006c0007t0001g0008a0006c0007t0001g0053a0006c0007t0001g0054others(10): Show | 16 | 382 | 0.0419 | 0 | c.319 others(3): Show |
p.Pro others(6): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 3/8 | 472/2535 | 319/2061 | 107/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45846709 | G | T | missense_variant | MODERATE | NA18943.hp2 | a0038 | a0038c0029 | a0038c0029t0001 | a0038c0029t0001g0190 | 1 | 382 | 0.0026 | 0 | c.270 others(3): Show |
p.Phe others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 2/8 | 423/2535 | 270/2061 | 90/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45847182 | C | A | missense_variant | MODERATE | NA18946.hp2 | a0022 | a0022c0055 | a0022c0055t0001 | a0022c0055t0001g0296 | 1 | 382 | 0.0026 | 0 | c.166 others(3): Show |
p.Val others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 1/8 | 319/2535 | 166/2061 | 56/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45847238 | C | T | missense_variant | MODERATE | NA19089.hp2 NA20300.hp1 |
a0020a0021 | a0020c0028a0021c0027 | a0020c0028t0001a0021c0027t0001 | a0020c0028t0001g0050a0021c0027t0001g0051 | 2 | 382 | 0.0052 | 0 | c.110 others(3): Show |
p.Gly others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 1/8 | 263/2535 | 110/2061 | 37/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45847245 | C | G | missense_variant | MODERATE | HG02004.hp2 | a0039 | a0039c0026 | a0039c0026t0001 | a0039c0026t0001g0049 | 1 | 382 | 0.0026 | 0 | c.103 others(3): Show |
p.Gly others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 1/8 | 256/2535 | 103/2061 | 35/686 | chr10 | TogoVar | ||
AGAP4_chr10_45820594_45852500 | 45847311 | C | T | missense_variant | MODERATE | HG02895.hp2 | a0019 | a0019c0025 | a0019c0025t0001 | a0019c0025t0001g0048 | 1 | 382 | 0.0026 | 0 | c.37G others(2): Show |
p.Val others(5): Show |
AGAP4 | ENSG00000188234.15 | transcript | ENST00000616763.6 | protein_coding | 1/8 | 190/2535 | 37/2061 | 13/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73674667 | G | A | missense_variant | MODERATE | HG02280.hp2 HG02717.hp2 HG02886.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0211a0007c0008t0001g0212a0007c0008t0001g0213 | 3 | 368 | 0.0082 | 0 | c.199 others(4): Show |
p.Arg others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 2347/2719 | 1993/2061 | 665/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73674757 | C | T | missense_variant | MODERATE | HG02280.hp2 HG02717.hp2 HG02886.hp2 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0211a0007c0008t0001g0212a0007c0008t0001g0213 | 3 | 368 | 0.0082 | 0 | c.190 others(4): Show |
p.Gly others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 2257/2719 | 1903/2061 | 635/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73674874 | C | T | missense_variant | MODERATE | HG03017.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0102 | 1 | 368 | 0.0027 | 0 | c.178 others(4): Show |
p.Ala others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 2140/2719 | 1786/2061 | 596/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73675125 | C | T | missense_variant | MODERATE | HG00642.hp1 HG02486.hp2 HG02615.hp1 others(3): Show |
a0006 | a0006c0006a0006c0010 | a0006c0006t0001a0006c0010t0001 | a0006c0006t0001g0023a0006c0006t0001g0056a0006c0006t0001g0057others(2): Show | 6 | 368 | 0.0163 | 0 | c.153 others(4): Show |
p.Arg others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 1889/2719 | 1535/2061 | 512/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73675215 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(97): Show |
a0002a0004a0007others(1): Show | a0002c0002a0002c0011a0002c0017others(4): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(8): Show | a0002c0002t0001g0005a0002c0002t0001g0013a0002c0002t0001g0014others(73): Show | 100 | 368 | 0.2717 | 0 | c.144 others(4): Show |
p.Tyr others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 1799/2719 | 1445/2061 | 482/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73675848 | T | G | missense_variant | MODERATE | NA19070.hp1 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0155 | 1 | 368 | 0.0027 | 0 | c.812 others(3): Show |
p.Asn others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 1166/2719 | 812/2061 | 271/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73675854 | G | A | missense_variant | MODERATE | HG00673.hp1 NA18747.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0090a0008c0009t0001g0104 | 2 | 368 | 0.0054 | 0 | c.806 others(3): Show |
p.Pro others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 1160/2719 | 806/2061 | 269/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73675924 | G | A | missense_variant | MODERATE | HG02280.hp2 HG02717.hp2 HG02886.hp2 others(1): Show |
a0007a0012 | a0007c0008a0012c0021 | a0007c0008t0001a0012c0021t0001 | a0007c0008t0001g0211a0007c0008t0001g0212a0007c0008t0001g0213others(1): Show | 4 | 368 | 0.0109 | 0 | c.736 others(3): Show |
p.Arg others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 1090/2719 | 736/2061 | 246/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73675998 | G | A | missense_variant | MODERATE | HG01978.hp1 | a0009 | a0009c0022 | a0009c0022t0001 | a0009c0022t0001g0136 | 1 | 368 | 0.0027 | 0 | c.662 others(3): Show |
p.Thr others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 8/8 | 1016/2719 | 662/2061 | 221/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73682758 | A | C | missense_variant | MODERATE | HG03540.hp2 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0079 | 1 | 368 | 0.0027 | 0 | c.433 others(3): Show |
p.Cys others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 5/8 | 787/2719 | 433/2061 | 145/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73682785 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00438.hp1 HG00621.hp2 others(64): Show |
a0003a0008a0013others(2): Show | a0003c0003a0008c0009a0013c0015others(2): Show | a0003c0003t0001a0003c0003t0005a0003c0003t0010others(4): Show | a0003c0003t0001g0003a0003c0003t0001g0006a0003c0003t0001g0025others(47): Show | 67 | 368 | 0.1821 | 0 | c.406 others(3): Show |
p.Glu others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 5/8 | 760/2719 | 406/2061 | 136/686 | chr10 | TogoVar | ||
AGAP5_chr10_73669295_73703109 | 73692053 | C | T | missense_variant | MODERATE | HG01361.hp2 HG01934.hp2 HG01952.hp2 others(10): Show |
a0005a0016 | a0005c0005a0016c0012 | a0005c0005t0001a0016c0012t0001 | a0005c0005t0001g0009a0005c0005t0001g0016a0005c0005t0001g0029others(4): Show | 13 | 368 | 0.0353 | 0 | c.386 others(3): Show |
p.Cys others(6): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 4/8 | 740/2719 | 386/2061 | 129/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988750 | G | A | missense_variant | MODERATE | HG00597.hp1 HG00621.hp2 |
a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0012a0010c0011t0001g0094 | 2 | 406 | 0.0049 | 0 | c.35G others(2): Show |
p.Ser others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 345/2684 | 35/2061 | 12/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988751 | C | G | missense_variant | MODERATE | HG02258.hp1 HG02717.hp1 HG03486.hp2 |
a0013a0014a0015 | a0013c0032a0014c0033a0015c0034 | a0013c0032t0004a0014c0033t0004a0015c0034t0004 | a0013c0032t0004g0215a0014c0033t0004g0056a0015c0034t0004g0055 | 3 | 406 | 0.0074 | 0 | c.36C others(2): Show |
p.Ser others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 346/2684 | 36/2061 | 12/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988810 | A | G | missense_variant | MODERATE | HG01943.hp2 | a0016 | a0016c0030 | a0016c0030t0001 | a0016c0030t0001g0018 | 1 | 406 | 0.0025 | 0 | c.95A others(2): Show |
p.Tyr others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 405/2684 | 95/2061 | 32/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988824 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00544.hp1 others(74): Show |
a0003a0004a0005others(8): Show | a0003c0003a0003c0014a0003c0031others(12): Show | a0003c0003t0003a0003c0003t0009a0003c0003t0010others(15): Show | a0003c0003t0003g0011a0003c0003t0003g0017a0003c0003t0003g0024others(54): Show | 77 | 406 | 0.1897 | 0 | c.109 others(3): Show |
p.Arg others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 419/2684 | 109/2061 | 37/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988899 | C | T | missense_variant | MODERATE | HG03017.hp2 | a0003 | a0003c0031 | a0003c0031t0003 | a0003c0031t0003g0230 | 1 | 406 | 0.0025 | 0 | c.184 others(3): Show |
p.Leu others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 494/2684 | 184/2061 | 62/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49988924 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(193): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0020a0003c0003others(20): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(25): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0008others(123): Show | 196 | 406 | 0.4828 | 0 | c.209 others(3): Show |
p.Arg others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1/8 | 519/2684 | 209/2061 | 70/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 49994413 | G | A | missense_variant | MODERATE | HG02602.hp1 | a0019 | a0019c0015 | a0019c0015t0001 | a0019c0015t0001g0023 | 1 | 406 | 0.0025 | 0 | c.380 others(3): Show |
p.Ser others(6): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 4/8 | 690/2684 | 380/2061 | 127/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 50002005 | G | A | missense_variant | MODERATE | NA18986.hp1 | a0020 | a0020c0016 | a0020c0016t0002 | a0020c0016t0002g0177 | 1 | 406 | 0.0025 | 0 | c.406 others(3): Show |
p.Val others(6): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 5/8 | 716/2684 | 406/2061 | 136/686 | chr10 | TogoVar | ||
AGAP6_chr10_49983406_50015499 | 50002008 | C | G | missense_variant | MODERATE | NA18986.hp1 | a0020 | a0020c0016 | a0020c0016t0002 | a0020c0016t0002g0177 | 1 | 406 | 0.0025 | 0 | c.409 others(3): Show |
p.Arg others(6): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 5/8 | 719/2684 | 409/2061 | 137/686 | chr10 | TogoVar |