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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP23_chr17_38423464_38517385 | 38510947 | C | T | missense_variant | MODERATE | HG01243.hp2 HG02486.hp1 HG02970.hp1 others(2): Show |
a0004 | a0004c0017a0004c0019a0004c0055 | a0004c0017t0004a0004c0019t0004a0004c0055t0004 | a0004c0017t0004g0138a0004c0017t0004g0139a0004c0019t0004g0058others(2): Show | 5 | 309 | 0.0162 | 0 | c.445 others(4): Show |
p.Ala others(7): Show |
ARHGAP23 | ENSG00000275832.5 | transcript | ENST00000622683.5 | protein_coding | 24/24 | 4473/5911 | 4451/4476 | 1484/1491 | chr17 | TogoVar | ||
ARHGAP24_chr4_85470150_86007666 | 85570698 | G | C | missense_variant | MODERATE | HG02080.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0064 | 1 | 108 | 0.0093 | 0 | c.157 others(3): Show |
p.Asp others(5): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/10 | 587/4621 | 157/2247 | 53/748 | chr4 | TogoVar | ||
ARHGAP24_chr4_85470150_86007666 | 85994658 | T | A | missense_variant | MODERATE | HG02723.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0088 | 1 | 108 | 0.0093 | 0 | c.100 others(4): Show |
p.Leu others(6): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 9/10 | 1434/4621 | 1004/2247 | 335/748 | chr4 | TogoVar | ||
ARHGAP24_chr4_85470150_86007666 | 85995096 | C | T | missense_variant | MODERATE | HG00639.hp2 HG00735.hp2 |
a0003 | a0003c0012a0003c0014 | a0003c0012t0001a0003c0014t0001 | a0003c0012t0001g0027a0003c0014t0001g0017 | 2 | 108 | 0.0185 | 0 | c.144 others(4): Show |
p.Thr others(6): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 9/10 | 1872/4621 | 1442/2247 | 481/748 | chr4 | TogoVar | ||
ARHGAP24_chr4_85470150_86007666 | 85995269 | T | C | missense_variant | MODERATE | HG02145.hp1 HG03130.hp2 NA20300.hp2 |
a0002 | a0002c0006 | a0002c0006t0006a0002c0006t0018 | a0002c0006t0006g0031a0002c0006t0006g0095a0002c0006t0018g0040 | 3 | 108 | 0.0278 | 0 | c.161 others(4): Show |
p.Phe others(6): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 9/10 | 2045/4621 | 1615/2247 | 539/748 | chr4 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68807287 | C | A | missense_variant | MODERATE | NA19064.hp2 | a0012 | a0012c0015 | a0012c0015t0003 | a0012c0015t0003g0168 | 1 | 368 | 0.0027 | 0 | c.481 others(3): Show |
p.Arg others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 5/11 | 870/2969 | 481/1941 | 161/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68807327 | C | G | missense_variant | MODERATE | HG02615.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0008 | 1 | 368 | 0.0027 | 0 | c.521 others(3): Show |
p.Pro others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 5/11 | 910/2969 | 521/1941 | 174/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68807383 | C | T | missense_variant | MODERATE | NA18977.hp1 NA19064.hp1 |
a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0092a0007c0013t0001g0117 | 2 | 368 | 0.0054 | 0 | c.577 others(3): Show |
p.Arg others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 5/11 | 966/2969 | 577/1941 | 193/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68816331 | G | A | missense_variant | MODERATE | HG02615.hp1 | a0010 | a0010c0017 | a0010c0017t0016 | a0010c0017t0016g0061 | 1 | 368 | 0.0027 | 0 | c.850 others(3): Show |
p.Asp others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 7/11 | 1239/2969 | 850/1941 | 284/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68822671 | G | C | missense_variant | MODERATE | HG01167.hp1 HG02109.hp1 NA19240.hp2 |
a0004 | a0004c0009 | a0004c0009t0002a0004c0009t0007 | a0004c0009t0002g0331a0004c0009t0007g0330a0004c0009t0007g0350 | 3 | 368 | 0.0082 | 0 | c.153 others(4): Show |
p.Gly others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 10/11 | 1921/2969 | 1532/1941 | 511/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68822710 | C | A | missense_variant | MODERATE | HG02886.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0277 | 1 | 368 | 0.0027 | 0 | c.157 others(4): Show |
p.Ala others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 10/11 | 1960/2969 | 1571/1941 | 524/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68822807 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(91): Show |
a0003a0008 | a0003c0003a0003c0006a0003c0014others(1): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0005others(9): Show | a0003c0003t0001g0009a0003c0003t0001g0058a0003c0003t0001g0064others(89): Show | 94 | 368 | 0.2554 | 0 | c.166 others(4): Show |
p.Arg others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 10/11 | 2057/2969 | 1668/1941 | 556/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68822809 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(139): Show |
a0001a0007a0009others(1): Show | a0001c0001a0007c0013a0009c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(127): Show | 142 | 368 | 0.3859 | 0 | c.167 others(4): Show |
p.Met others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 10/11 | 2059/2969 | 1670/1941 | 557/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68826034 | A | G | missense_variant | MODERATE | NA18986.hp2 | a0008 | a0008c0016 | a0008c0016t0001 | a0008c0016t0001g0351 | 1 | 368 | 0.0027 | 0 | c.178 others(4): Show |
p.Asn others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 11/11 | 2170/2969 | 1781/1941 | 594/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68826186 | G | A | missense_variant | MODERATE | HG02622.hp2 HG03486.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0273a0006c0011t0001g0274 | 2 | 368 | 0.0054 | 0 | c.193 others(4): Show |
p.Glu others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 11/11 | 2322/2969 | 1933/1941 | 645/646 | chr2 | TogoVar | ||
ARHGAP25_chr2_68729811_68831833 | 68826189 | G | A | missense_variant | MODERATE | HG03098.hp1 HG03486.hp2 |
a0005 | a0005c0010 | a0005c0010t0007 | a0005c0010t0007g0011 | 2 | 368 | 0.0054 | 0 | c.193 others(4): Show |
p.Ala others(6): Show |
ARHGAP25 | ENSG00000163219.12 | transcript | ENST00000409202.8 | protein_coding | 11/11 | 2325/2969 | 1936/1941 | 646/646 | chr2 | TogoVar | ||
ARHGAP26_chr5_142765377_143234007 | 143134003 | G | C | missense_variant | MODERATE | HG02615.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0110 | 1 | 198 | 0.0051 | 0 | c.173 others(4): Show |
p.Ala others(6): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 19/23 | 2120/9226 | 1735/2280 | 579/759 | chr5 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45395459 | G | C | missense_variant | MODERATE | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(32): Show |
a0003a0006 | a0003c0003a0003c0007a0006c0006 | a0003c0003t0001a0003c0003t0007a0003c0003t0009others(4): Show | a0003c0003t0001g0041a0003c0003t0001g0055a0003c0003t0001g0088others(32): Show | 35 | 347 | 0.1009 | 0 | c.266 others(4): Show |
p.His others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 20/20 | 3070/4621 | 2667/2670 | 889/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45395478 | G | A | missense_variant | MODERATE | HG02717.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0178 | 1 | 347 | 0.0029 | 0 | c.264 others(4): Show |
p.Ala others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 20/20 | 3051/4621 | 2648/2670 | 883/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45396976 | C | G | missense_variant | MODERATE | HG02717.hp2 HG02818.hp2 |
a0009a0010 | a0009c0013a0010c0014 | a0009c0013t0001a0010c0014t0001 | a0009c0013t0001g0177a0010c0014t0001g0178 | 2 | 347 | 0.0058 | 0 | c.189 others(4): Show |
p.Gly others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 14/20 | 2294/4621 | 1891/2670 | 631/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45404053 | G | A | missense_variant | MODERATE | HG01934.hp1 HG01975.hp1 HG02004.hp2 others(2): Show |
a0005a0008 | a0005c0005a0008c0017 | a0005c0005t0002a0005c0005t0003a0008c0017t0024 | a0005c0005t0002g0149a0005c0005t0003g0146a0005c0005t0003g0147others(2): Show | 5 | 347 | 0.0144 | 0 | c.152 others(4): Show |
p.Thr others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 10/20 | 1926/4621 | 1523/2670 | 508/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45406047 | C | T | missense_variant | MODERATE | NA18971.hp1 NA19086.hp1 |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0096a0007c0008t0001g0139 | 2 | 347 | 0.0058 | 0 | c.694 others(3): Show |
p.Glu others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 5/20 | 1097/4621 | 694/2670 | 232/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45429642 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0009a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0172a0001c0001t0001g0173a0001c0001t0001g0174others(176): Show | 208 | 347 | 0.5994 | 0 | c.638 others(3): Show |
p.Pro others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 4/20 | 1041/4621 | 638/2670 | 213/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45429931 | C | T | missense_variant | MODERATE | HG00140.hp2 HG01074.hp2 HG01099.hp2 others(17): Show |
a0004 | a0004c0004 | a0004c0004t0004a0004c0004t0026 | a0004c0004t0004g0001a0004c0004t0004g0017a0004c0004t0004g0304others(9): Show | 20 | 347 | 0.0576 | 0 | c.349 others(3): Show |
p.Ala others(6): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 4/20 | 752/4621 | 349/2670 | 117/889 | chr17 | TogoVar | ||
ARHGAP27_chr17_45388908_45437870 | 45430054 | C | T | missense_variant | MODERATE | HG03669.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0037 | 1 | 347 | 0.0029 | 0 | c.226 others(3): Show |
p.Ala others(5): Show |
ARHGAP27 | ENSG00000159314.13 | transcript | ENST00000685559.1 | protein_coding | 4/20 | 629/4621 | 226/2670 | 76/889 | chr17 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6729843 | G | A | missense_variant | MODERATE | HG01106.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0142 | 1 | 248 | 0.0040 | 0 | c.22G others(2): Show |
p.Gly others(4): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 1/18 | 128/5858 | 22/2190 | 8/729 | chr18 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6851059 | C | G | missense_variant | MODERATE | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(43): Show |
a0003a0004 | a0003c0004a0003c0013a0003c0021others(3): Show | a0003c0004t0001a0003c0013t0011a0003c0021t0001others(4): Show | a0003c0004t0001g0010a0003c0004t0001g0020a0003c0004t0001g0021others(43): Show | 46 | 248 | 0.1855 | 0 | c.569 others(3): Show |
p.Thr others(6): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 4/18 | 675/5858 | 569/2190 | 190/729 | chr18 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6851070 | G | A | missense_variant | MODERATE | HG00099.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0092 | 1 | 248 | 0.0040 | 0 | c.580 others(3): Show |
p.Asp others(6): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 4/18 | 686/5858 | 580/2190 | 194/729 | chr18 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6890044 | A | G | missense_variant | MODERATE | HG02630.hp2 HG03471.hp2 NA19240.hp2 |
a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0016a0008c0011t0005g0090a0008c0011t0005g0152 | 3 | 248 | 0.0121 | 0 | c.169 others(4): Show |
p.Ile others(6): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 13/18 | 1799/5858 | 1693/2190 | 565/729 | chr18 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6890539 | G | T | missense_variant | MODERATE | NA18950.hp1 NA18977.hp2 NA18995.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0031a0005c0006t0003g0127a0005c0006t0003g0177others(2): Show | 5 | 248 | 0.0202 | 0 | c.184 others(4): Show |
p.Arg others(6): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 14/18 | 1950/5858 | 1844/2190 | 615/729 | chr18 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6908977 | G | A | missense_variant | MODERATE | HG01952.hp2 HG02615.hp1 HG02922.hp2 others(3): Show |
a0006a0007 | a0006c0009a0007c0008 | a0006c0009t0003a0006c0009t0005a0006c0009t0009others(1): Show | a0006c0009t0003g0162a0006c0009t0005g0144a0006c0009t0009g0153others(3): Show | 6 | 248 | 0.0242 | 0 | c.204 others(4): Show |
p.Cys others(6): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 17/18 | 2154/5858 | 2048/2190 | 683/729 | chr18 | TogoVar | ||
ARHGAP28_chr18_6724716_6920716 | 6912144 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0003a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(181): Show | 184 | 248 | 0.7419 | 0 | c.218 others(4): Show |
p.Gln others(6): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 18/18 | 2286/5858 | 2180/2190 | 727/729 | chr18 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94173891 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(337): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(295): Show | 340 | 356 | 0.9551 | 0 | c.376 others(4): Show |
p.Gly others(7): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 23/23 | 3966/8952 | 3764/3786 | 1255/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94174051 | C | A | missense_variant | MODERATE | HG00423.hp2 | a0007 | a0007c0013 | a0007c0013t0006 | a0007c0013t0006g0249 | 1 | 356 | 0.0028 | 0 | c.360 others(4): Show |
p.Val others(7): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 23/23 | 3806/8952 | 3604/3786 | 1202/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94174698 | A | G | missense_variant | MODERATE | NA19043.hp2 | a0008 | a0008c0010 | a0008c0010t0022 | a0008c0010t0022g0035 | 1 | 356 | 0.0028 | 0 | c.295 others(4): Show |
p.Ile others(6): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 23/23 | 3159/8952 | 2957/3786 | 986/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94179812 | C | T | missense_variant | MODERATE | HG02258.hp1 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0177 | 1 | 356 | 0.0028 | 0 | c.239 others(4): Show |
p.Arg others(6): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 20/23 | 2595/8952 | 2393/3786 | 798/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94185416 | G | A | missense_variant | MODERATE | HG02280.hp2 | a0005 | a0005c0014 | a0005c0014t0011 | a0005c0014t0011g0133 | 1 | 356 | 0.0028 | 0 | c.184 others(4): Show |
p.Arg others(6): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 17/23 | 2048/8952 | 1846/3786 | 616/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94201749 | C | T | missense_variant | MODERATE | NA19054.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0108 | 1 | 356 | 0.0028 | 0 | c.125 others(4): Show |
p.Val others(6): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 12/23 | 1454/8952 | 1252/3786 | 418/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94205174 | T | C | missense_variant | MODERATE | HG03710.hp2 | a0009 | a0009c0016 | a0009c0016t0016 | a0009c0016t0016g0076 | 1 | 356 | 0.0028 | 0 | c.584 others(3): Show |
p.Asp others(6): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 7/23 | 786/8952 | 584/3786 | 195/1261 | chr1 | TogoVar | ||
ARHGAP29_chr1_94163905_94242584 | 94220347 | C | T | missense_variant | MODERATE | NA18612.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0102 | 1 | 356 | 0.0028 | 0 | c.251 others(3): Show |
p.Arg others(5): Show |
ARHGAP29 | ENSG00000137962.13 | transcript | ENST00000260526.11 | protein_coding | 3/23 | 453/8952 | 251/3786 | 84/1261 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161047971 | C | T | missense_variant | MODERATE | HG03491.hp2 HG03492.hp2 |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0378a0004c0005t0006g0379 | 2 | 390 | 0.0051 | 0 | c.305 others(4): Show |
p.Arg others(7): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 3317/4342 | 3050/3306 | 1017/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161047975 | G | A | missense_variant | MODERATE | HG03942.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0156 | 1 | 390 | 0.0026 | 0 | c.304 others(4): Show |
p.Arg others(7): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 3313/4342 | 3046/3306 | 1016/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161048478 | T | C | missense_variant | MODERATE | HG01071.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0075 | 1 | 390 | 0.0026 | 0 | c.254 others(4): Show |
p.Asp others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 2810/4342 | 2543/3306 | 848/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161048632 | C | G | missense_variant | MODERATE | HG01109.hp2 HG02258.hp2 HG02280.hp2 others(1): Show |
a0003a0009 | a0003c0004a0009c0013 | a0003c0004t0001a0009c0013t0001 | a0003c0004t0001g0024a0003c0004t0001g0167a0003c0004t0001g0173others(1): Show | 4 | 390 | 0.0103 | 0 | c.238 others(4): Show |
p.Asp others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 2656/4342 | 2389/3306 | 797/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161049090 | G | C | missense_variant | MODERATE | HG02258.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0183 | 1 | 390 | 0.0026 | 0 | c.193 others(4): Show |
p.Ala others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 2198/4342 | 1931/3306 | 644/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161049250 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
a0002a0006a0010others(1): Show | a0002c0002a0002c0003a0002c0015others(3): Show | a0002c0002t0001a0002c0002t0004a0002c0003t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0006others(139): Show | 148 | 390 | 0.3795 | 0 | c.177 others(4): Show |
p.Leu others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 2038/4342 | 1771/3306 | 591/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161049334 | C | T | missense_variant others(1): Show |
MODERATE | NA18975.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0216 | 1 | 390 | 0.0026 | 0 | c.168 others(4): Show |
p.Val others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 12/12 | 1954/4342 | 1687/3306 | 563/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161051535 | C | A | missense_variant | MODERATE | NA18956.hp2 NA19005.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0069a0005c0006t0001g0129 | 2 | 390 | 0.0051 | 0 | c.119 others(4): Show |
p.Gly others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 10/12 | 1466/4342 | 1199/3306 | 400/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161051640 | A | G | missense_variant | MODERATE | HG03942.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0156 | 1 | 390 | 0.0026 | 0 | c.109 others(4): Show |
p.Ile others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 10/12 | 1361/4342 | 1094/3306 | 365/1101 | chr1 | TogoVar | ||
ARHGAP30_chr1_161041946_161074891 | 161052308 | A | T | missense_variant | MODERATE | NA19060.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0032 | 1 | 390 | 0.0026 | 0 | c.996 others(3): Show |
p.Ser others(6): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 9/12 | 1263/4342 | 996/3306 | 332/1101 | chr1 | TogoVar |