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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAR_chr1_154577057_154613186 | 154589418 | T | A | missense_variant | MODERATE | NA19068.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0213 | 1 | 414 | 0.0024 | 0 | c.271 others(4): Show |
p.Thr others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 9/15 | 2893/6610 | 2713/3681 | 905/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154589450 | A | G | missense_variant | MODERATE | NA19068.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0213 | 1 | 414 | 0.0024 | 0 | c.268 others(4): Show |
p.Val others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 9/15 | 2861/6610 | 2681/3681 | 894/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154589451 | C | A | missense_variant | MODERATE | NA19068.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0213 | 1 | 414 | 0.0024 | 0 | c.268 others(4): Show |
p.Val others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 9/15 | 2860/6610 | 2680/3681 | 894/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154596953 | T | G | missense_variant | MODERATE | HG02273.hp1 | a0008 | a0008c0019 | a0008c0019t0003 | a0008c0019t0003g0148 | 1 | 414 | 0.0024 | 0 | c.212 others(4): Show |
p.Met others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 6/15 | 2302/6610 | 2122/3681 | 708/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154598427 | T | C | missense_variant | MODERATE | HG02040.hp1 HG02055.hp1 HG02976.hp1 others(3): Show |
a0004a0007 | a0004c0005a0007c0020 | a0004c0005t0001a0004c0005t0018a0007c0020t0010 | a0004c0005t0001g0169 a0004c0005t0001g0170 a0004c0005t0001g0172 others(3): Show |
6 | 414 | 0.0145 | 0 | c.176 others(4): Show |
p.Tyr others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 3/15 | 1940/6610 | 1760/3681 | 587/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154601491 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(256): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0007a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0006 others(125): Show |
259 | 414 | 0.6256 | 0 | c.115 others(4): Show |
p.Lys others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 1331/6610 | 1151/3681 | 384/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154601639 | T | A | missense_variant | MODERATE | HG01109.hp1 HG01243.hp1 HG01433.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0011 a0003c0004t0007g0224 |
7 | 414 | 0.0169 | 0 | c.100 others(4): Show |
p.Ile others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 1183/6610 | 1003/3681 | 335/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154601880 | G | C | missense_variant | MODERATE | HG03453.hp1 | a0009 | a0009c0023 | a0009c0023t0002 | a0009c0023t0002g0061 | 1 | 414 | 0.0024 | 0 | c.762 others(3): Show |
p.Asn others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 942/6610 | 762/3681 | 254/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154602065 | G | C | missense_variant | MODERATE | HG01516.hp1 | a0006 | a0006c0024 | a0006c0024t0019 | a0006c0024t0019g0216 | 1 | 414 | 0.0024 | 0 | c.577 others(3): Show |
p.Pro others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 757/6610 | 577/3681 | 193/1226 | chr1 | TogoVar | |||
ADAR_chr1_154577057_154613186 | 154602344 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(408): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0090 a0001c0001t0002g0003 a0001c0001t0002g0006 others(219): Show |
411 | 414 | 0.9928 | 0 | c.298 others(3): Show |
p.Arg others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 478/6610 | 298/3681 | 100/1226 | chr1 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612364 | C | T | missense_variant | MODERATE | NA18941.hp1 NA18972.hp1 NA19004.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0004 a0007c0007t0004g0039 a0007c0007t0004g0040 |
4 | 346 | 0.0116 | 0 | c.922 others(3): Show |
p.Val others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1822/5757 | 922/1509 | 308/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612468 | T | A | missense_variant | MODERATE | HG02572.hp2 HG03486.hp1 |
a0010 | a0010c0013 | a0010c0013t0003 | a0010c0013t0003g0081 a0010c0013t0003g0084 |
2 | 346 | 0.0058 | 0 | c.818 others(3): Show |
p.Lys others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1718/5757 | 818/1509 | 273/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612525 | A | G | missense_variant | MODERATE | HG00323.hp1 HG01257.hp2 HG01258.hp2 others(15): Show |
a0004 | a0004c0005a0004c0015 | a0004c0005t0008a0004c0005t0012a0004c0005t0025others(6): Show | a0004c0005t0008g0008 a0004c0005t0008g0009 a0004c0005t0008g0114 others(13): Show |
18 | 346 | 0.0520 | 0 | c.761 others(3): Show |
p.Ile others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1661/5757 | 761/1509 | 254/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612562 | T | G | missense_variant | MODERATE | HG00423.hp1 NA19066.hp2 NA19082.hp2 others(1): Show |
a0006 | a0006c0009 | a0006c0009t0003a0006c0009t0053a0006c0009t0054others(1): Show | a0006c0009t0003g0093 a0006c0009t0053g0136 a0006c0009t0054g0182 others(1): Show |
4 | 346 | 0.0116 | 0 | c.724 others(3): Show |
p.Thr others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1624/5757 | 724/1509 | 242/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612610 | T | C | missense_variant | MODERATE | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0011a0005c0006t0017a0005c0006t0042others(5): Show | a0005c0006t0011g0116 a0005c0006t0011g0117 a0005c0006t0011g0120 others(11): Show |
14 | 346 | 0.0405 | 0 | c.676 others(3): Show |
p.Ile others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1576/5757 | 676/1509 | 226/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612613 | G | C | missense_variant | MODERATE | HG02647.hp2 NA20300.hp2 |
a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0214 a0011c0014t0001g0215 |
2 | 346 | 0.0058 | 0 | c.673 others(3): Show |
p.Pro others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1573/5757 | 673/1509 | 225/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612655 | C | T | missense_variant | MODERATE | HG02486.hp2 HG02647.hp1 |
a0009 | a0009c0012 | a0009c0012t0016 | a0009c0012t0016g0053 a0009c0012t0016g0054 |
2 | 346 | 0.0058 | 0 | c.631 others(3): Show |
p.Gly others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1531/5757 | 631/1509 | 211/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612670 | T | C | missense_variant | MODERATE | NA19005.hp1 NA19010.hp2 NA19063.hp1 |
a0008 | a0008c0011 | a0008c0011t0020 | a0008c0011t0020g0135 a0008c0011t0020g0179 a0008c0011t0020g0180 |
3 | 346 | 0.0087 | 0 | c.616 others(3): Show |
p.Arg others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1516/5757 | 616/1509 | 206/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612678 | G | T | missense_variant | MODERATE | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(109): Show |
a0002a0008 | a0002c0002a0002c0010a0008c0011 | a0002c0002t0001a0002c0002t0013a0002c0002t0018others(16): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0011 others(89): Show |
112 | 346 | 0.3237 | 0 | c.608 others(3): Show |
p.Thr others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1508/5757 | 608/1509 | 203/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612785 | G | C | missense_variant | MODERATE | NA19086.hp1 | a0004 | a0004c0015 | a0004c0015t0008 | a0004c0015t0008g0112 | 1 | 346 | 0.0029 | 0 | c.501 others(3): Show |
p.His others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1401/5757 | 501/1509 | 167/502 | chr16 | TogoVar | |||
ADAT1_chr16_75591868_75628281 | 75612787 | G | T | missense_variant | MODERATE | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(220): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0010a0003c0003others(9): Show | a0002c0002t0001a0002c0002t0013a0002c0002t0018others(58): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0011 others(194): Show |
223 | 346 | 0.6445 | 0 | c.499 others(3): Show |
p.His others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1399/5757 | 499/1509 | 167/502 | chr16 | TogoVar | |||
ADAT2_chr6_143417832_143455695 | 143428478 | T | A | missense_variant | MODERATE | HG01884.hp2 HG02630.hp2 HG02809.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0020a0002c0002t0036a0002c0002t0037others(6): Show | a0002c0002t0020g0072 a0002c0002t0020g0074 a0002c0002t0020g0078 others(11): Show |
14 | 320 | 0.0438 | 0 | c.561 others(3): Show |
p.Glu others(6): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 598/6244 | 561/576 | 187/191 | chr6 | TogoVar | |||
ADAT2_chr6_143417832_143455695 | 143438664 | G | T | missense_variant | MODERATE | HG02451.hp2 | a0003 | a0003c0004 | a0003c0004t0027 | a0003c0004t0027g0089 | 1 | 320 | 0.0031 | 0 | c.127 others(3): Show |
p.Pro others(5): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 2/6 | 164/6244 | 127/576 | 43/191 | chr6 | TogoVar | |||
ADAT3_chr19_1900399_1918447 | 1912252 | A | G | missense_variant | MODERATE | HG01123.hp1 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0032 | 1 | 440 | 0.0023 | 0 | c.205 others(3): Show |
p.Lys others(5): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 2/2 | 404/1599 | 205/1104 | 69/367 | chr19 | TogoVar | |||
ADAT3_chr19_1900399_1918447 | 1912430 | G | T | missense_variant | MODERATE | HG01099.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0071 | 1 | 440 | 0.0023 | 0 | c.383 others(3): Show |
p.Arg others(6): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 2/2 | 582/1599 | 383/1104 | 128/367 | chr19 | TogoVar | |||
ADAT3_chr19_1900399_1918447 | 1912771 | A | G | missense_variant | MODERATE | HG02257.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0016 a0002c0005t0001g0147 |
6 | 440 | 0.0136 | 0 | c.724 others(3): Show |
p.Met others(6): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 2/2 | 923/1599 | 724/1104 | 242/367 | chr19 | TogoVar | |||
ADAT3_chr19_1900399_1918447 | 1912808 | G | A | missense_variant | MODERATE | HG02602.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0001 | 1 | 440 | 0.0023 | 0 | c.761 others(3): Show |
p.Arg others(6): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 2/2 | 960/1599 | 761/1104 | 254/367 | chr19 | TogoVar | |||
ADAT3_chr19_1900399_1918447 | 1912901 | A | C | missense_variant | MODERATE | HG02647.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0106 | 1 | 440 | 0.0023 | 0 | c.854 others(3): Show |
p.Asp others(6): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 2/2 | 1053/1599 | 854/1104 | 285/367 | chr19 | TogoVar | |||
ADAT3_chr19_1900399_1918447 | 1912969 | G | A | missense_variant | MODERATE | HG04204.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0057 | 1 | 440 | 0.0023 | 0 | c.922 others(3): Show |
p.Ala others(6): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 2/2 | 1121/1599 | 922/1104 | 308/367 | chr19 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44621056 | G | A | missense_variant | MODERATE | HG01952.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0169 | 1 | 326 | 0.0031 | 0 | c.937 others(3): Show |
p.Arg others(6): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 10/12 | 1029/1496 | 937/1092 | 313/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44622602 | C | A | missense_variant | MODERATE | HG02083.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0178 | 1 | 326 | 0.0031 | 0 | c.831 others(3): Show |
p.Glu others(6): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 9/12 | 923/1496 | 831/1092 | 277/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44622612 | G | A | missense_variant | MODERATE | HG00438.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0164 | 1 | 326 | 0.0031 | 0 | c.821 others(3): Show |
p.Pro others(6): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 9/12 | 913/1496 | 821/1092 | 274/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44622839 | A | G | missense_variant | MODERATE | HG02976.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0094 | 1 | 326 | 0.0031 | 0 | c.770 others(3): Show |
p.Met others(6): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 8/12 | 862/1496 | 770/1092 | 257/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44625613 | C | T | missense_variant | MODERATE | HG03579.hp2 | a0011 | a0011c0020 | a0011c0020t0001 | a0011c0020t0001g0257 | 1 | 326 | 0.0031 | 0 | c.434 others(3): Show |
p.Gly others(6): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 5/12 | 526/1496 | 434/1092 | 145/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44625622 | C | T | missense_variant | MODERATE | HG02622.hp1 HG02630.hp2 |
a0004 | a0004c0011a0004c0019 | a0004c0011t0001a0004c0019t0001 | a0004c0011t0001g0093 a0004c0019t0001g0118 |
2 | 326 | 0.0061 | 0 | c.425 others(3): Show |
p.Arg others(6): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 5/12 | 517/1496 | 425/1092 | 142/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44626579 | T | C | missense_variant | MODERATE | HG01175.hp1 HG01515.hp1 HG01517.hp2 others(10): Show |
a0002a0009 | a0002c0003a0009c0010 | a0002c0003t0001a0009c0010t0001 | a0002c0003t0001g0010 a0002c0003t0001g0060 a0002c0003t0001g0061 others(8): Show |
13 | 326 | 0.0399 | 0 | c.239 others(3): Show |
p.Lys others(5): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 4/12 | 331/1496 | 239/1092 | 80/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44629155 | G | A | missense_variant | MODERATE | HG02145.hp1 | a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0079 | 1 | 326 | 0.0031 | 0 | c.110 others(3): Show |
p.Ala others(5): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 3/12 | 202/1496 | 110/1092 | 37/363 | chr20 | TogoVar | |||
ADA_chr20_44614522_44656699 | 44651586 | C | T | missense_variant | MODERATE | HG00597.hp1 HG00733.hp1 HG02074.hp1 others(8): Show |
a0003a0009 | a0003c0005a0003c0008a0009c0010 | a0003c0005t0001a0003c0008t0001a0009c0010t0001 | a0003c0005t0001g0035 a0003c0005t0001g0037 a0003c0005t0001g0039 others(7): Show |
11 | 326 | 0.0337 | 0 | c.22G others(2): Show |
p.Asp others(4): Show |
ADA | ENSG00000196839.14 | transcript | ENST00000372874.9 | protein_coding | 1/12 | 114/1496 | 22/1092 | 8/363 | chr20 | TogoVar | |||
ADCK1_chr14_77795109_77940014 | 77859197 | C | T | missense_variant | MODERATE | NA19030.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0002 | 1 | 284 | 0.0035 | 0 | c.341 others(3): Show |
p.Thr others(6): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 4/11 | 414/3268 | 341/1572 | 114/523 | chr14 | TogoVar | |||
ADCK1_chr14_77795109_77940014 | 77887134 | C | T | missense_variant | MODERATE | HG01099.hp1 | a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0187 | 1 | 284 | 0.0035 | 0 | c.467 others(3): Show |
p.Thr others(6): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/11 | 540/3268 | 467/1572 | 156/523 | chr14 | TogoVar | |||
ADCK1_chr14_77795109_77940014 | 77887215 | G | A | missense_variant | MODERATE | NA18962.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0146 | 1 | 284 | 0.0035 | 0 | c.548 others(3): Show |
p.Arg others(6): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 5/11 | 621/3268 | 548/1572 | 183/523 | chr14 | TogoVar | |||
ADCK1_chr14_77795109_77940014 | 77925953 | G | A | missense_variant | MODERATE | HG03654.hp1 | a0003 | a0003c0013 | a0003c0013t0001 | a0003c0013t0001g0176 | 1 | 284 | 0.0035 | 0 | c.119 others(4): Show |
p.Ala others(6): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 9/11 | 1271/3268 | 1198/1572 | 400/523 | chr14 | TogoVar | |||
ADCK1_chr14_77795109_77940014 | 77933348 | G | A | missense_variant | MODERATE | NA20300.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0237 | 1 | 284 | 0.0035 | 0 | c.152 others(4): Show |
p.Arg others(6): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 11/11 | 1602/3268 | 1529/1572 | 510/523 | chr14 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140673454 | C | T | missense_variant | MODERATE | HG02683.hp1 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0003 | 1 | 288 | 0.0035 | 0 | c.124 others(3): Show |
p.Leu others(5): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 1/8 | 510/2574 | 124/1881 | 42/626 | chr7 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140673526 | A | G | missense_variant | MODERATE | HG00609.hp2 HG00639.hp2 HG00642.hp2 others(108): Show |
a0002a0003a0004others(5): Show | a0002c0002a0002c0017a0003c0003others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0011 others(68): Show |
111 | 288 | 0.3854 | 0 | c.196 others(3): Show |
p.Ser others(5): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 1/8 | 582/2574 | 196/1881 | 66/626 | chr7 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140673530 | G | A | missense_variant | MODERATE | HG00642.hp2 HG02486.hp1 HG03098.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0017 a0004c0004t0002g0035 a0004c0004t0002g0147 |
6 | 288 | 0.0208 | 0 | c.200 others(3): Show |
p.Arg others(5): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 1/8 | 586/2574 | 200/1881 | 67/626 | chr7 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140674249 | T | C | missense_variant | MODERATE | HG00609.hp2 HG00639.hp2 HG00642.hp2 others(108): Show |
a0002a0003a0004others(5): Show | a0002c0002a0002c0017a0003c0003others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(16): Show | a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0011 others(68): Show |
111 | 288 | 0.3854 | 0 | c.919 others(3): Show |
p.Ser others(6): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 1/8 | 1305/2574 | 919/1881 | 307/626 | chr7 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140674611 | G | A | missense_variant others(1): Show |
MODERATE | NA20129.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0048 | 1 | 288 | 0.0035 | 0 | c.934 others(3): Show |
p.Val others(6): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 2/8 | 1320/2574 | 934/1881 | 312/626 | chr7 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140681084 | G | T | missense_variant | MODERATE | HG02280.hp1 HG02572.hp2 HG02970.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0006 | a0005c0005t0001g0021 a0005c0005t0001g0051 a0005c0005t0001g0146 others(2): Show |
5 | 288 | 0.0174 | 0 | c.125 others(4): Show |
p.Val others(6): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 4/8 | 1638/2574 | 1252/1881 | 418/626 | chr7 | TogoVar | |||
ADCK2_chr7_140667945_140700110 | 140689616 | T | A | missense_variant | MODERATE | HG03654.hp1 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0144 | 1 | 288 | 0.0035 | 0 | c.157 others(4): Show |
p.Leu others(6): Show |
ADCK2 | ENSG00000133597.11 | transcript | ENST00000072869.9 | protein_coding | 6/8 | 1963/2574 | 1577/1881 | 526/626 | chr7 | TogoVar |