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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACBD3_chr1_226139679_226191741 | 226164898 | T | C | missense_variant | MODERATE | HG01361.hp2 HG01516.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0040 a0004c0006t0001g0044 |
2 | 394 | 0.0051 | 0 | c.460 others(3): Show |
p.Lys others(6): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 3/8 | 526/3584 | 460/1587 | 154/528 | chr1 | TogoVar | |||
ACBD3_chr1_226139679_226191741 | 226186411 | G | C | missense_variant | MODERATE | HG03688.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0356 | 1 | 393 | 0.0025 | 0 | c.265 others(3): Show |
p.Leu others(5): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/8 | 331/3584 | 265/1587 | 89/528 | chr1 | TogoVar | |||
ACBD3_chr1_226139679_226191741 | 226186651 | G | C | missense_variant | MODERATE | HG01175.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0358 | 1 | 394 | 0.0025 | 0 | c.25C others(2): Show |
p.Arg others(4): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 1/8 | 91/3584 | 25/1587 | 9/528 | chr1 | TogoVar | |||
ACBD4_chr17_45130687_45149176 | 45136148 | G | T | missense_variant | MODERATE | NA18953.hp2 NA18957.hp1 NA18992.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0012 a0003c0003t0001g0065 others(1): Show |
5 | 450 | 0.0111 | 0 | c.4G> others(1): Show |
p.Gly others(4): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 2/10 | 308/1827 | 4/918 | 2/305 | chr17 | TogoVar | |||
ACBD4_chr17_45130687_45149176 | 45137025 | G | A | missense_variant | MODERATE | NA21309.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0004 | 1 | 450 | 0.0022 | 0 | c.301 others(3): Show |
p.Asp others(6): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 5/10 | 605/1827 | 301/918 | 101/305 | chr17 | TogoVar | |||
ACBD4_chr17_45130687_45149176 | 45137801 | G | A | missense_variant | MODERATE | HG02015.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0078 | 1 | 450 | 0.0022 | 0 | c.544 others(3): Show |
p.Asp others(6): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 7/10 | 848/1827 | 544/918 | 182/305 | chr17 | TogoVar | |||
ACBD4_chr17_45130687_45149176 | 45137928 | C | T | missense_variant | MODERATE | NA19089.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0006 | 1 | 450 | 0.0022 | 0 | c.589 others(3): Show |
p.Arg others(6): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 8/10 | 893/1827 | 589/918 | 197/305 | chr17 | TogoVar | |||
ACBD4_chr17_45130687_45149176 | 45139105 | A | G | missense_variant | MODERATE | HG01123.hp2 HG01192.hp2 HG02258.hp1 others(26): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0051 others(7): Show |
29 | 450 | 0.0644 | 0 | c.734 others(3): Show |
p.Gln others(6): Show |
ACBD4 | ENSG00000181513.15 | transcript | ENST00000321854.13 | protein_coding | 9/10 | 1038/1827 | 734/918 | 245/305 | chr17 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27204504 | A | T | missense_variant | MODERATE | NA19076.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0291 | 1 | 382 | 0.0026 | 0 | c.150 others(4): Show |
p.Phe others(6): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 12/13 | 1610/3903 | 1501/1578 | 501/525 | chr10 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27205236 | T | A | missense_variant | MODERATE | NA19076.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0291 | 1 | 382 | 0.0026 | 0 | c.141 others(4): Show |
p.Thr others(6): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 11/13 | 1526/3903 | 1417/1578 | 473/525 | chr10 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27208262 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG00621.hp2 others(32): Show |
a0002 | a0002c0004a0002c0012 | a0002c0004t0001a0002c0004t0005a0002c0012t0001 | a0002c0004t0001g0007 a0002c0004t0001g0008 a0002c0004t0001g0013 others(26): Show |
35 | 382 | 0.0916 | 0 | c.138 others(4): Show |
p.Thr others(6): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 10/13 | 1497/3903 | 1388/1578 | 463/525 | chr10 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27211050 | G | T | missense_variant | MODERATE | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(22): Show |
a0003 | a0003c0006a0003c0013 | a0003c0006t0004a0003c0006t0018a0003c0013t0004 | a0003c0006t0004g0002 a0003c0006t0004g0126 a0003c0006t0004g0127 others(18): Show |
25 | 382 | 0.0654 | 0 | c.968 others(3): Show |
p.Pro others(6): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 9/13 | 1077/3903 | 968/1578 | 323/525 | chr10 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27219825 | C | T | missense_variant | MODERATE | NA18942.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0293 | 1 | 382 | 0.0026 | 0 | c.523 others(3): Show |
p.Ala others(6): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 6/13 | 632/3903 | 523/1578 | 175/525 | chr10 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27223406 | C | T | missense_variant | MODERATE | NA18950.hp1 NA18967.hp1 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0229 a0004c0007t0001g0274 |
2 | 382 | 0.0052 | 0 | c.422 others(3): Show |
p.Arg others(6): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 5/13 | 531/3903 | 422/1578 | 141/525 | chr10 | TogoVar | |||
ACBD5_chr10_27190214_27245797 | 27240360 | A | C | missense_variant | MODERATE | HG02015.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0162 | 1 | 382 | 0.0026 | 0 | c.140 others(3): Show |
p.Phe others(5): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2/13 | 249/3903 | 140/1578 | 47/525 | chr10 | TogoVar | |||
ACBD7_chr10_15070475_15093776 | 15078943 | A | C | missense_variant | MODERATE | HG01255.hp1 NA20805.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0041 | 2 | 424 | 0.0047 | 0 | c.110 others(3): Show |
p.Ile others(5): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 2/4 | 158/3370 | 110/267 | 37/88 | chr10 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44048169 | G | A | missense_variant | MODERATE | HG02080.hp2 NA18945.hp1 NA18946.hp2 others(12): Show |
a0003 | a0003c0003a0003c0009 | a0003c0003t0001a0003c0009t0001 | a0003c0003t0001g0012 a0003c0003t0001g0036 a0003c0003t0001g0053 others(5): Show |
15 | 444 | 0.0338 | 0 | c.133 others(3): Show |
p.Val others(5): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 1/14 | 189/1820 | 133/1707 | 45/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44048254 | G | A | missense_variant | MODERATE | HG02280.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0100 | 1 | 444 | 0.0023 | 0 | c.218 others(3): Show |
p.Arg others(5): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 1/14 | 274/1820 | 218/1707 | 73/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44048266 | G | A | missense_variant | MODERATE | HG02015.hp2 HG02080.hp1 NA19088.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0002 a0005c0007t0001g0005 a0005c0007t0001g0010 |
3 | 444 | 0.0068 | 0 | c.230 others(3): Show |
p.Arg others(5): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 1/14 | 286/1820 | 230/1707 | 77/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44053500 | C | A | missense_variant | MODERATE | HG02647.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0008 | 1 | 444 | 0.0023 | 0 | c.104 others(4): Show |
p.Ala others(6): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 8/14 | 1099/1820 | 1043/1707 | 348/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44055258 | C | A | missense_variant | MODERATE | NA18747.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0008 | 1 | 444 | 0.0023 | 0 | c.110 others(4): Show |
p.Ser others(6): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 9/14 | 1162/1820 | 1106/1707 | 369/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44056255 | G | C | missense_variant | MODERATE | NA18989.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0002 | 1 | 444 | 0.0023 | 0 | c.125 others(4): Show |
p.Ser others(6): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 11/14 | 1312/1820 | 1256/1707 | 419/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44058546 | T | G | missense_variant others(1): Show |
MODERATE | NA19078.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0061 | 1 | 444 | 0.0023 | 0 | c.147 others(4): Show |
p.Tyr others(6): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 13/14 | 1527/1820 | 1471/1707 | 491/568 | chr11 | TogoVar | |||
ACCSL_chr11_44042981_44064977 | 44058660 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(131): Show |
343 | 444 | 0.7725 | 0 | c.158 others(4): Show |
p.Cys others(6): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 13/14 | 1641/1820 | 1585/1707 | 529/568 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44067802 | G | A | missense_variant | MODERATE | HG00140.hp1 HG00438.hp2 HG00597.hp1 others(116): Show |
a0003a0004a0005others(3): Show | a0003c0002a0003c0008a0004c0005others(4): Show | a0003c0002t0001a0003c0002t0002a0003c0002t0003others(11): Show | a0003c0002t0001g0009 a0003c0002t0001g0033 a0003c0002t0001g0036 others(80): Show |
119 | 436 | 0.2729 | 0 | c.175 others(3): Show |
p.Asp others(5): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 2/15 | 607/2383 | 175/1506 | 59/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44073500 | C | G | missense_variant | MODERATE | HG02622.hp2 HG02630.hp2 HG02895.hp2 others(2): Show |
a0007a0008 | a0007c0009a0008c0010 | a0007c0009t0001a0008c0010t0001 | a0007c0009t0001g0067 a0007c0009t0001g0266 a0008c0010t0001g0066 |
5 | 436 | 0.0115 | 0 | c.402 others(3): Show |
p.Asp others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 4/15 | 834/2383 | 402/1506 | 134/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44074637 | C | G | missense_variant | MODERATE | HG06807.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0227 | 1 | 436 | 0.0023 | 0 | c.445 others(3): Show |
p.Leu others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/15 | 877/2383 | 445/1506 | 149/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44077852 | G | A | missense_variant | MODERATE | HG02615.hp2 HG02723.hp2 HG03195.hp1 others(5): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0052 a0005c0006t0001g0093 a0005c0006t0001g0094 others(4): Show |
8 | 436 | 0.0183 | 0 | c.662 others(3): Show |
p.Gly others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 8/15 | 1094/2383 | 662/1506 | 221/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44079599 | G | A | missense_variant | MODERATE | NA18999.hp2 NA19077.hp2 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0024 | 2 | 436 | 0.0046 | 0 | c.902 others(3): Show |
p.Arg others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 10/15 | 1334/2383 | 902/1506 | 301/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44081201 | G | A | missense_variant | MODERATE | HG02965.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0159 | 1 | 436 | 0.0023 | 0 | c.992 others(3): Show |
p.Arg others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 12/15 | 1424/2383 | 992/1506 | 331/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44081213 | T | C | missense_variant | MODERATE | HG00280.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0119 | 1 | 436 | 0.0023 | 0 | c.100 others(4): Show |
p.Leu others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 12/15 | 1436/2383 | 1004/1506 | 335/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44083431 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(190): Show |
a0002a0003a0006others(3): Show | a0002c0003a0002c0004a0002c0018others(6): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0008others(16): Show | a0002c0003t0001g0007 a0002c0003t0001g0010 a0002c0003t0001g0012 others(136): Show |
193 | 436 | 0.4427 | 0 | c.126 others(4): Show |
p.Pro others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 14/15 | 1694/2383 | 1262/1506 | 421/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44083467 | G | A | missense_variant | MODERATE | HG02132.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0121 | 1 | 436 | 0.0023 | 0 | c.129 others(4): Show |
p.Arg others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 14/15 | 1730/2383 | 1298/1506 | 433/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44083734 | A | T | missense_variant | MODERATE | NA18995.hp2 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0151 | 1 | 436 | 0.0023 | 0 | c.144 others(4): Show |
p.Gln others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 15/15 | 1880/2383 | 1448/1506 | 483/501 | chr11 | TogoVar | |||
ACCS_chr11_44061270_44089237 | 44083751 | C | T | missense_variant | MODERATE | HG02145.hp2 HG02809.hp2 HG02818.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0088 a0006c0007t0001g0089 a0006c0007t0001g0091 others(1): Show |
4 | 436 | 0.0092 | 0 | c.146 others(4): Show |
p.Arg others(6): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 15/15 | 1897/2383 | 1465/1506 | 489/501 | chr11 | TogoVar | |||
ACD_chr16_67652512_67665260 | 67657765 | A | G | missense_variant | MODERATE | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(156): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(18): Show |
159 | 266 | 0.5977 | 0 | c.129 others(4): Show |
p.Val others(6): Show |
ACD | ENSG00000102977.18 | transcript | ENST00000620761.6 | protein_coding | 11/12 | 1335/1511 | 1295/1377 | 432/458 | chr16 | TogoVar | |||
ACD_chr16_67652512_67665260 | 67658248 | G | T | missense_variant | MODERATE | HG00609.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0016 | 1 | 266 | 0.0038 | 0 | c.944 others(3): Show |
p.Pro others(6): Show |
ACD | ENSG00000102977.18 | transcript | ENST00000620761.6 | protein_coding | 10/12 | 984/1511 | 944/1377 | 315/458 | chr16 | TogoVar | |||
ACD_chr16_67652512_67665260 | 67658269 | C | T | missense_variant | MODERATE | HG01884.hp1 HG02257.hp2 HG03139.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008 a0003c0004t0001g0023 |
3 | 266 | 0.0113 | 0 | c.923 others(3): Show |
p.Gly others(6): Show |
ACD | ENSG00000102977.18 | transcript | ENST00000620761.6 | protein_coding | 10/12 | 963/1511 | 923/1377 | 308/458 | chr16 | TogoVar | |||
ACD_chr16_67652512_67665260 | 67658960 | T | C | missense_variant | MODERATE | HG01993.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0022 | 1 | 266 | 0.0038 | 0 | c.613 others(3): Show |
p.Thr others(6): Show |
ACD | ENSG00000102977.18 | transcript | ENST00000620761.6 | protein_coding | 7/12 | 653/1511 | 613/1377 | 205/458 | chr16 | TogoVar | |||
ACD_chr16_67652512_67665260 | 67659046 | C | T | missense_variant | MODERATE | HG03041.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0014 | 1 | 266 | 0.0038 | 0 | c.527 others(3): Show |
p.Arg others(6): Show |
ACD | ENSG00000102977.18 | transcript | ENST00000620761.6 | protein_coding | 7/12 | 567/1511 | 527/1377 | 176/458 | chr16 | TogoVar | |||
ACE2_chrX_15556033_15605960 | 15564142 | G | A | missense_variant | MODERATE | HG01243.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0088 | 1 | 262 | 0.0038 | 0 | c.219 others(4): Show |
p.Leu others(6): Show |
ACE2 | ENSG00000130234.13 | transcript | ENST00000252519.8 | protein_coding | 17/18 | 2240/3339 | 2191/2418 | 731/805 | chrX | TogoVar | |||
ACER1_chr19_6301142_6338612 | 6306748 | T | C | missense_variant | MODERATE | NA19060.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0198 | 1 | 394 | 0.0025 | 0 | c.761 others(3): Show |
p.Tyr others(6): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 6/6 | 822/1428 | 761/795 | 254/264 | chr19 | TogoVar | |||
ACER1_chr19_6301142_6338612 | 6306846 | C | T | missense_variant | MODERATE | HG01175.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0026 | 1 | 394 | 0.0025 | 0 | c.663 others(3): Show |
p.Met others(6): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 6/6 | 724/1428 | 663/795 | 221/264 | chr19 | TogoVar | |||
ACER1_chr19_6301142_6338612 | 6307207 | C | G | missense_variant | MODERATE | HG01099.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0015 | 1 | 394 | 0.0025 | 0 | c.572 others(3): Show |
p.Arg others(6): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 5/6 | 633/1428 | 572/795 | 191/264 | chr19 | TogoVar | |||
ACER1_chr19_6301142_6338612 | 6312279 | T | C | missense_variant | MODERATE | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(84): Show |
a0002a0003a0005 | a0002c0002a0002c0005a0003c0010others(1): Show | a0002c0002t0001a0002c0005t0001a0003c0010t0001others(1): Show | a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 others(81): Show |
87 | 394 | 0.2208 | 0 | c.220 others(3): Show |
p.Met others(5): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 3/6 | 281/1428 | 220/795 | 74/264 | chr19 | TogoVar | |||
ACER1_chr19_6301142_6338612 | 6333487 | G | A | missense_variant | MODERATE | NA18988.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0377 | 1 | 394 | 0.0025 | 0 | c.65C others(2): Show |
p.Ser others(5): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/6 | 126/1428 | 65/795 | 22/264 | chr19 | TogoVar | |||
ACER2_chr9_19404009_19457505 | 19409109 | C | A | missense_variant | MODERATE | HG03130.hp2 HG03579.hp2 |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0017 | a0004c0005t0002g0105 a0004c0005t0017g0099 |
2 | 356 | 0.0056 | 0 | c.25C others(2): Show |
p.Gln others(4): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 1/6 | 101/2773 | 25/828 | 9/275 | chr9 | TogoVar | |||
ACER2_chr9_19404009_19457505 | 19423902 | T | G | missense_variant | MODERATE | NA19062.hp1 | a0006 | a0006c0007 | a0006c0007t0012 | a0006c0007t0012g0055 | 1 | 356 | 0.0028 | 0 | c.149 others(3): Show |
p.Met others(5): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 2/6 | 225/2773 | 149/828 | 50/275 | chr9 | TogoVar | |||
ACER2_chr9_19404009_19457505 | 19423938 | G | C | missense_variant | MODERATE | NA18966.hp1 | a0005 | a0005c0008 | a0005c0008t0024 | a0005c0008t0024g0029 | 1 | 356 | 0.0028 | 0 | c.185 others(3): Show |
p.Ser others(5): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 2/6 | 261/2773 | 185/828 | 62/275 | chr9 | TogoVar | |||
ACER2_chr9_19404009_19457505 | 19434982 | C | T | missense_variant | MODERATE | HG00438.hp2 HG00735.hp2 HG01192.hp2 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0138 a0002c0002t0001g0145 others(19): Show |
24 | 356 | 0.0674 | 0 | c.401 others(3): Show |
p.Ala others(6): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 4/6 | 477/2773 | 401/828 | 134/275 | chr9 | TogoVar |