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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL5_chr2_27046668_27075618 | 27059398 | G | A | missense_variant | MODERATE | HG00099.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0114 | 1 | 334 | 0.0030 | 0 | c.208 others(4): Show |
p.Val others(6): Show |
AGBL5 | ENSG00000084693.16 | transcript | ENST00000360131.5 | protein_coding | 11/15 | 2255/3188 | 2083/2661 | 695/886 | chr2 | TogoVar | ||
AGBL5_chr2_27046668_27075618 | 27069592 | G | A | missense_variant | MODERATE | HG01074.hp2 HG03486.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0035 | 2 | 334 | 0.0060 | 0 | c.237 others(4): Show |
p.Arg others(6): Show |
AGBL5 | ENSG00000084693.16 | transcript | ENST00000360131.5 | protein_coding | 14/15 | 2547/3188 | 2375/2661 | 792/886 | chr2 | TogoVar | ||
AGBL5_chr2_27046668_27075618 | 27069655 | G | A | missense_variant | MODERATE | NA19012.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0058 | 1 | 334 | 0.0030 | 0 | c.243 others(4): Show |
p.Arg others(6): Show |
AGBL5 | ENSG00000084693.16 | transcript | ENST00000360131.5 | protein_coding | 14/15 | 2610/3188 | 2438/2661 | 813/886 | chr2 | TogoVar | ||
AGBL5_chr2_27046668_27075618 | 27070121 | G | A | missense_variant | MODERATE | HG03831.hp1 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0001 | 1 | 334 | 0.0030 | 0 | c.251 others(4): Show |
p.Arg others(6): Show |
AGBL5 | ENSG00000084693.16 | transcript | ENST00000360131.5 | protein_coding | 15/15 | 2691/3188 | 2519/2661 | 840/886 | chr2 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32181363 | C | T | missense_variant | MODERATE | HG01934.hp2 HG01975.hp2 HG01993.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0015 | 7 | 461 | 0.0152 | 0 | c.110 others(4): Show |
p.Arg others(6): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 10/11 | 1137/1420 | 1106/1215 | 369/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32181372 | C | T | missense_variant | MODERATE | HG03098.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0028 | 1 | 461 | 0.0022 | 0 | c.109 others(4): Show |
p.Arg others(6): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 10/11 | 1128/1420 | 1097/1215 | 366/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32181373 | G | A | missense_variant | MODERATE | HG02602.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0033 | 1 | 461 | 0.0022 | 0 | c.109 others(4): Show |
p.Arg others(6): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 10/11 | 1127/1420 | 1096/1215 | 366/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32182270 | C | T | missense_variant | MODERATE | HG02145.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0027 | 1 | 461 | 0.0022 | 0 | c.941 others(3): Show |
p.Arg others(6): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 8/11 | 972/1420 | 941/1215 | 314/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32182309 | C | G | missense_variant | MODERATE | HG02257.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0026 | 1 | 461 | 0.0022 | 0 | c.902 others(3): Show |
p.Cys others(6): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 8/11 | 933/1420 | 902/1215 | 301/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32182579 | A | T | missense_variant | MODERATE | HG02257.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0026 | 1 | 461 | 0.0022 | 0 | c.811 others(3): Show |
p.Trp others(6): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 7/11 | 842/1420 | 811/1215 | 271/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32183666 | C | T | missense_variant | MODERATE | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(35): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 38 | 461 | 0.0824 | 0 | c.244 others(3): Show |
p.Gly others(5): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 3/11 | 275/1420 | 244/1215 | 82/404 | chr6 | TogoVar | ||
AGER_chr6_32175969_32189253 | 32183957 | G | A | missense_variant | MODERATE | NA18941.hp1 NA18955.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0019 | 2 | 461 | 0.0043 | 0 | c.83C others(2): Show |
p.Ala others(5): Show |
AGER | ENSG00000204305.16 | transcript | ENST00000375076.9 | protein_coding | 2/11 | 114/1420 | 83/1215 | 28/404 | chr6 | TogoVar | ||
AGFG1_chr2_227467156_227566217 | 227533711 | A | G | missense_variant | MODERATE | NA18946.hp1 | a0003 | a0003c0008 | a0003c0008t0013 | a0003c0008t0013g0075 | 1 | 328 | 0.0031 | 0 | c.977 others(3): Show |
p.Lys others(6): Show |
AGFG1 | ENSG00000173744.18 | transcript | ENST00000310078.13 | protein_coding | 7/13 | 1243/8677 | 977/1689 | 326/562 | chr2 | TogoVar | ||
AGFG1_chr2_227467156_227566217 | 227533738 | A | G | missense_variant | MODERATE | HG03041.hp1 NA18940.hp1 |
a0002 | a0002c0006a0002c0007 | a0002c0006t0002a0002c0007t0012 | a0002c0006t0002g0260a0002c0007t0012g0195 | 2 | 328 | 0.0061 | 0 | c.100 others(4): Show |
p.Asn others(6): Show |
AGFG1 | ENSG00000173744.18 | transcript | ENST00000310078.13 | protein_coding | 7/13 | 1270/8677 | 1004/1689 | 335/562 | chr2 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100539462 | G | C | missense_variant | MODERATE | HG00140.hp1 HG02040.hp2 HG02698.hp1 others(8): Show |
a0004a0010 | a0004c0004a0010c0006 | a0004c0004t0002a0004c0004t0011a0010c0006t0002 | a0004c0004t0002g0018a0004c0004t0002g0019a0004c0004t0002g0067others(8): Show | 11 | 246 | 0.0447 | 0 | c.116 others(3): Show |
p.Cys others(5): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 1/12 | 260/4819 | 116/1446 | 39/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100539498 | C | T | missense_variant | MODERATE | NA18975.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0227 | 1 | 246 | 0.0041 | 0 | c.152 others(3): Show |
p.Ala others(5): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 1/12 | 296/4819 | 152/1446 | 51/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100548833 | A | G | missense_variant | MODERATE | HG03834.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0064 | 1 | 246 | 0.0041 | 0 | c.233 others(3): Show |
p.Asn others(5): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 2/12 | 377/4819 | 233/1446 | 78/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100554096 | G | A | missense_variant | MODERATE | HG02257.hp2 HG02451.hp2 HG02615.hp2 others(11): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0004a0003c0003t0007a0003c0003t0008others(3): Show | a0003c0003t0004g0032a0003c0003t0004g0109a0003c0003t0004g0195others(11): Show | 14 | 246 | 0.0569 | 0 | c.589 others(3): Show |
p.Val others(6): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 5/12 | 733/4819 | 589/1446 | 197/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100562274 | C | T | missense_variant | MODERATE | HG02698.hp1 | a0010 | a0010c0006 | a0010c0006t0002 | a0010c0006t0002g0072 | 1 | 246 | 0.0041 | 0 | c.893 others(3): Show |
p.Thr others(6): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 7/12 | 1037/4819 | 893/1446 | 298/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100562303 | G | A | missense_variant | MODERATE | HG01258.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0174 | 1 | 246 | 0.0041 | 0 | c.922 others(3): Show |
p.Ala others(6): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 7/12 | 1066/4819 | 922/1446 | 308/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100562363 | G | C | missense_variant | MODERATE | NA19030.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0059 | 1 | 246 | 0.0041 | 0 | c.982 others(3): Show |
p.Ala others(6): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 7/12 | 1126/4819 | 982/1446 | 328/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100562641 | T | C | missense_variant | MODERATE | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(50): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0003c0007others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(11): Show | a0002c0002t0001g0003a0002c0002t0001g0017a0002c0002t0001g0204others(48): Show | 53 | 246 | 0.2155 | 0 | c.104 others(4): Show |
p.Met others(6): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 8/12 | 1190/4819 | 1046/1446 | 349/481 | chr7 | TogoVar | ||
AGFG2_chr7_100534203_100573220 | 100562655 | G | A | missense_variant | MODERATE | HG02071.hp2 | a0005 | a0005c0010 | a0005c0010t0009 | a0005c0010t0009g0225 | 1 | 246 | 0.0041 | 0 | c.106 others(4): Show |
p.Gly others(6): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 8/12 | 1204/4819 | 1060/1446 | 354/481 | chr7 | TogoVar | ||
AGGF1_chr5_77025404_77070234 | 77035594 | G | A | missense_variant | MODERATE | HG02922.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0234 | 1 | 438 | 0.0023 | 0 | c.367 others(3): Show |
p.Glu others(6): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 3/14 | 730/4490 | 367/2145 | 123/714 | chr5 | TogoVar | ||
AGGF1_chr5_77025404_77070234 | 77035624 | G | A | missense_variant | MODERATE | HG02074.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0263 | 1 | 438 | 0.0023 | 0 | c.397 others(3): Show |
p.Glu others(6): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 3/14 | 760/4490 | 397/2145 | 133/714 | chr5 | TogoVar | ||
AGGF1_chr5_77025404_77070234 | 77063199 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(93): Show |
a0002 | a0002c0003a0002c0008 | a0002c0003t0002a0002c0003t0014a0002c0003t0015others(4): Show | a0002c0003t0002g0001a0002c0003t0002g0003a0002c0003t0002g0005others(74): Show | 96 | 438 | 0.2192 | 0 | c.209 others(4): Show |
p.Pro others(6): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 14/14 | 2455/4490 | 2092/2145 | 698/714 | chr5 | TogoVar | ||
AGGF1_chr5_77025404_77070234 | 77063223 | A | T | missense_variant | MODERATE | HG01167.hp1 HG02280.hp2 NA19030.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0011 | a0003c0005t0011g0136a0003c0005t0011g0189a0003c0005t0011g0190others(1): Show | 4 | 438 | 0.0091 | 0 | c.211 others(4): Show |
p.Met others(6): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 14/14 | 2479/4490 | 2116/2145 | 706/714 | chr5 | TogoVar | ||
AGK_chr7_141546410_141660244 | 141555483 | A | G | missense_variant | MODERATE | HG01261.hp1 HG02896.hp1 HG03225.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004a0002c0002t0003g0270 | 3 | 274 | 0.0110 | 0 | c.17A others(2): Show |
p.Lys others(4): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 2/16 | 56/3628 | 17/1269 | 6/422 | chr7 | TogoVar | ||
AGK_chr7_141546410_141660244 | 141596602 | A | G | missense_variant | MODERATE | HG03041.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0021 | 1 | 274 | 0.0037 | 0 | c.182 others(3): Show |
p.Lys others(5): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 4/16 | 221/3628 | 182/1269 | 61/422 | chr7 | TogoVar | ||
AGK_chr7_141546410_141660244 | 141611252 | A | G | missense_variant | MODERATE | NA19078.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0245 | 1 | 274 | 0.0037 | 0 | c.355 others(3): Show |
p.Ile others(6): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 6/16 | 394/3628 | 355/1269 | 119/422 | chr7 | TogoVar | ||
AGK_chr7_141546410_141660244 | 141614171 | C | G | missense_variant | MODERATE | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0227 | 1 | 274 | 0.0037 | 0 | c.416 others(3): Show |
p.Thr others(6): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 7/16 | 455/3628 | 416/1269 | 139/422 | chr7 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99861532 | A | G | missense_variant | MODERATE | HG02717.hp1 HG02886.hp2 NA18522.hp1 |
a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0208a0008c0010t0010g0209a0008c0010t0010g0210 | 3 | 318 | 0.0094 | 0 | c.112 others(3): Show |
p.Thr others(5): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 3/34 | 235/7091 | 112/4599 | 38/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99862406 | G | A | missense_variant | MODERATE | NA20905.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0073 | 1 | 318 | 0.0031 | 0 | c.443 others(3): Show |
p.Arg others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 4/34 | 566/7091 | 443/4599 | 148/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99870421 | A | G | missense_variant | MODERATE | HG00642.hp2 HG00673.hp1 HG01928.hp2 others(22): Show |
a0003a0024a0025 | a0003c0006a0003c0015a0024c0034others(1): Show | a0003c0006t0001a0003c0006t0006a0003c0006t0008others(4): Show | a0003c0006t0001g0177a0003c0006t0001g0178a0003c0006t0001g0179others(22): Show | 25 | 318 | 0.0786 | 0 | c.686 others(3): Show |
p.Gln others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 6/34 | 809/7091 | 686/4599 | 229/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99875190 | G | T | missense_variant | MODERATE | HG01361.hp2 | a0013 | a0013c0033 | a0013c0033t0004 | a0013c0033t0004g0014 | 1 | 318 | 0.0031 | 0 | c.111 others(4): Show |
p.Trp others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 9/34 | 1242/7091 | 1119/4599 | 373/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99875226 | G | T | missense_variant | MODERATE | HG01167.hp2 HG03927.hp2 NA20752.hp1 |
a0011a0023 | a0011c0011a0023c0016 | a0011c0011t0014a0023c0016t0023 | a0011c0011t0014g0204a0011c0011t0014g0247a0023c0016t0023g0205 | 3 | 318 | 0.0094 | 0 | c.115 others(4): Show |
p.Lys others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 9/34 | 1278/7091 | 1155/4599 | 385/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99875231 | G | A | missense_variant | MODERATE | HG00423.hp1 HG00733.hp1 HG01993.hp1 others(20): Show |
a0004a0024 | a0004c0005a0004c0018a0024c0034 | a0004c0005t0002a0004c0005t0003a0004c0018t0005others(1): Show | a0004c0005t0002g0107a0004c0005t0002g0109a0004c0005t0002g0110others(20): Show | 23 | 318 | 0.0723 | 0 | c.116 others(4): Show |
p.Arg others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 9/34 | 1283/7091 | 1160/4599 | 387/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99876493 | C | T | missense_variant | MODERATE | HG02630.hp2 HG02647.hp1 HG06807.hp2 |
a0009 | a0009c0013a0009c0032 | a0009c0013t0004a0009c0032t0004 | a0009c0013t0004g0017a0009c0013t0004g0045a0009c0032t0004g0216 | 3 | 318 | 0.0094 | 0 | c.131 others(4): Show |
p.Ser others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 11/34 | 1442/7091 | 1319/4599 | 440/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99880005 | A | G | missense_variant | MODERATE | HG01361.hp2 | a0013 | a0013c0033 | a0013c0033t0004 | a0013c0033t0004g0014 | 1 | 318 | 0.0031 | 0 | c.169 others(4): Show |
p.Asn others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 13/34 | 1817/7091 | 1694/4599 | 565/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99880706 | T | G | missense_variant | MODERATE | NA19043.hp1 | a0022 | a0022c0023 | a0022c0023t0004 | a0022c0023t0004g0015 | 1 | 318 | 0.0031 | 0 | c.181 others(4): Show |
p.Phe others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 14/34 | 1933/7091 | 1810/4599 | 604/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99881391 | G | T | missense_variant | MODERATE | NA18967.hp2 NA18994.hp2 |
a0010 | a0010c0012 | a0010c0012t0006 | a0010c0012t0006g0006 | 2 | 318 | 0.0063 | 0 | c.210 others(4): Show |
p.Ala others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 16/34 | 2224/7091 | 2101/4599 | 701/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99884427 | C | T | missense_variant | MODERATE | HG01167.hp2 HG03927.hp2 |
a0011 | a0011c0011 | a0011c0011t0014 | a0011c0011t0014g0204a0011c0011t0014g0247 | 2 | 318 | 0.0063 | 0 | c.252 others(4): Show |
p.Ser others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 19/34 | 2645/7091 | 2522/4599 | 841/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99884692 | T | G | missense_variant | MODERATE | NA18962.hp2 | a0025 | a0025c0035 | a0025c0035t0001 | a0025c0035t0001g0187 | 1 | 318 | 0.0031 | 0 | c.267 others(4): Show |
p.Ile others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 20/34 | 2793/7091 | 2670/4599 | 890/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99891292 | C | G | missense_variant | MODERATE | HG02647.hp2 HG02717.hp1 HG02886.hp2 others(1): Show |
a0008a0014 | a0008c0010a0014c0030 | a0008c0010t0010a0014c0030t0006 | a0008c0010t0010g0208a0008c0010t0010g0209a0008c0010t0010g0210others(1): Show | 4 | 318 | 0.0126 | 0 | c.288 others(4): Show |
p.Ser others(6): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 22/34 | 3008/7091 | 2885/4599 | 962/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99892547 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00741.hp2 HG01361.hp2 others(21): Show |
a0005a0013a0022 | a0005c0004a0013c0033a0022c0023 | a0005c0004t0003a0005c0004t0004a0005c0004t0015others(2): Show | a0005c0004t0003g0242a0005c0004t0004g0013a0005c0004t0004g0014others(20): Show | 24 | 318 | 0.0755 | 0 | c.319 others(4): Show |
p.Pro others(7): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 24/34 | 3322/7091 | 3199/4599 | 1067/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99896369 | G | A | missense_variant | MODERATE | HG00597.hp2 HG00639.hp2 HG00733.hp2 others(41): Show |
a0002a0007a0009others(1): Show | a0002c0003a0002c0007a0007c0009others(4): Show | a0002c0003t0005a0002c0003t0006a0002c0003t0021others(8): Show | a0002c0003t0005g0019a0002c0003t0005g0024a0002c0003t0005g0029others(38): Show | 44 | 318 | 0.1384 | 0 | c.334 others(4): Show |
p.Gly others(7): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 25/34 | 3466/7091 | 3343/4599 | 1115/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99900692 | T | G | missense_variant | MODERATE | HG02258.hp1 | a0021 | a0021c0025 | a0021c0025t0001 | a0021c0025t0001g0296 | 1 | 318 | 0.0031 | 0 | c.341 others(4): Show |
p.Leu others(7): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 26/34 | 3542/7091 | 3419/4599 | 1140/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99902713 | G | A | missense_variant | MODERATE | HG02109.hp2 HG02451.hp2 HG02976.hp1 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0007a0006c0008t0008 | a0006c0008t0007g0230a0006c0008t0007g0241a0006c0008t0008g0016others(1): Show | 5 | 318 | 0.0157 | 0 | c.361 others(4): Show |
p.Ala others(7): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/34 | 3742/7091 | 3619/4599 | 1207/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99910769 | G | A | missense_variant | MODERATE | HG00597.hp2 HG02071.hp1 HG02630.hp2 others(4): Show |
a0007a0009 | a0007c0009a0007c0024a0009c0013others(1): Show | a0007c0009t0004a0007c0024t0015a0009c0013t0004others(1): Show | a0007c0009t0004g0037a0007c0009t0004g0053a0007c0009t0004g0075others(4): Show | 7 | 318 | 0.0220 | 0 | c.375 others(4): Show |
p.Arg others(7): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 28/34 | 3881/7091 | 3758/4599 | 1253/1532 | chr1 | TogoVar | ||
AGL_chr1_99845361_99929020 | 99910775 | A | G | missense_variant | MODERATE | HG03139.hp2 | a0020 | a0020c0029 | a0020c0029t0013 | a0020c0029t0013g0214 | 1 | 318 | 0.0031 | 0 | c.376 others(4): Show |
p.Asn others(7): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 28/34 | 3887/7091 | 3764/4599 | 1255/1532 | chr1 | TogoVar |