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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF28_chr5_73621196_73946990 | 73840741 | A | G | missense_variant | MODERATE | NA18949.hp1 | a0022 | a0022c0044 | a0022c0044t0001 | a0022c0044t0001g0123 | 1 | 188 | 0.0053 | 0 | c.140 others(4): Show |
p.Ser others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 11/36 | 1546/6233 | 1408/5118 | 470/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73846471 | C | T | missense_variant | MODERATE | HG00280.hp2 HG00323.hp1 HG00621.hp1 others(27): Show |
a0006a0009a0010others(9): Show | a0006c0010a0006c0015a0006c0030others(16): Show | a0006c0010t0001a0006c0010t0002a0006c0010t0004others(23): Show | a0006c0010t0001g0019a0006c0010t0001g0185a0006c0010t0002g0071others(27): Show | 30 | 188 | 0.1596 | 0 | c.163 others(4): Show |
p.Ser others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 12/36 | 1769/6233 | 1631/5118 | 544/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73849058 | G | A | missense_variant | MODERATE | HG01517.hp2 | a0025 | a0025c0033 | a0025c0033t0007 | a0025c0033t0007g0174 | 1 | 188 | 0.0053 | 0 | c.171 others(4): Show |
p.Arg others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 13/36 | 1856/6233 | 1718/5118 | 573/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73852656 | G | A | missense_variant | MODERATE | HG00280.hp2 HG00323.hp1 HG00621.hp1 others(24): Show |
a0006a0009a0010others(8): Show | a0006c0010a0006c0015a0006c0030others(14): Show | a0006c0010t0001a0006c0010t0002a0006c0010t0004others(20): Show | a0006c0010t0001g0019a0006c0010t0001g0185a0006c0010t0002g0071others(24): Show | 27 | 188 | 0.1436 | 0 | c.175 others(4): Show |
p.Arg others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 14/36 | 1892/6233 | 1754/5118 | 585/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73857727 | G | A | missense_variant | MODERATE | HG00323.hp2 | a0032 | a0032c0065 | a0032c0065t0001 | a0032c0065t0001g0066 | 1 | 188 | 0.0053 | 0 | c.186 others(4): Show |
p.Arg others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 15/36 | 2000/6233 | 1862/5118 | 621/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73868140 | C | A | missense_variant | MODERATE | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(36): Show |
a0006a0008a0009others(13): Show | a0006c0010a0006c0015a0006c0030others(21): Show | a0006c0010t0001a0006c0010t0002a0006c0010t0004others(29): Show | a0006c0010t0001g0019a0006c0010t0001g0185a0006c0010t0002g0071others(36): Show | 39 | 188 | 0.2075 | 0 | c.233 others(4): Show |
p.His others(6): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 20/36 | 2476/6233 | 2338/5118 | 780/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73885883 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0035 | a0035c0076 | a0035c0076t0001 | a0035c0076t0001g0125 | 1 | 188 | 0.0053 | 0 | c.308 others(4): Show |
p.Ala others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 25/36 | 3227/6233 | 3089/5118 | 1030/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73894476 | G | A | missense_variant | MODERATE | HG03017.hp1 | a0024 | a0024c0040 | a0024c0040t0004 | a0024c0040t0004g0116 | 1 | 188 | 0.0053 | 0 | c.374 others(4): Show |
p.Gly others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 29/36 | 3880/6233 | 3742/5118 | 1248/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73909638 | G | A | missense_variant | MODERATE | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(2): Show |
a0014a0016a0037 | a0014c0034a0014c0046a0016c0027others(1): Show | a0014c0034t0001a0014c0046t0004a0016c0027t0001others(2): Show | a0014c0034t0001g0087a0014c0046t0004g0118a0016c0027t0001g0080others(2): Show | 5 | 188 | 0.0266 | 0 | c.438 others(4): Show |
p.Arg others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 34/36 | 4526/6233 | 4388/5118 | 1463/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73909730 | G | T | missense_variant | MODERATE | NA21309.hp1 | a0028 | a0028c0031 | a0028c0031t0004 | a0028c0031t0004g0113 | 1 | 188 | 0.0053 | 0 | c.448 others(4): Show |
p.Asp others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 34/36 | 4618/6233 | 4480/5118 | 1494/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73909872 | C | G | missense_variant | MODERATE | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(3): Show |
a0014a0016a0037others(1): Show | a0014c0034a0014c0046a0016c0027others(2): Show | a0014c0034t0001a0014c0046t0004a0016c0027t0001others(3): Show | a0014c0034t0001g0087a0014c0046t0004g0118a0016c0027t0001g0080others(3): Show | 6 | 188 | 0.0319 | 0 | c.462 others(4): Show |
p.Ala others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 34/36 | 4760/6233 | 4622/5118 | 1541/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73909892 | C | T | missense_variant | MODERATE | HG01069.hp1 HG01071.hp1 HG01123.hp1 others(2): Show |
a0014a0016a0037 | a0014c0034a0014c0046a0016c0027others(1): Show | a0014c0034t0001a0014c0046t0004a0016c0027t0001others(2): Show | a0014c0034t0001g0087a0014c0046t0004g0118a0016c0027t0001g0080others(2): Show | 5 | 188 | 0.0266 | 0 | c.464 others(4): Show |
p.Pro others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 34/36 | 4780/6233 | 4642/5118 | 1548/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73911326 | A | G | missense_variant | MODERATE | HG01106.hp2 | a0034 | a0034c0068 | a0034c0068t0002 | a0034c0068t0002g0026 | 1 | 188 | 0.0053 | 0 | c.469 others(4): Show |
p.Ile others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 35/36 | 4837/6233 | 4699/5118 | 1567/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73911547 | T | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(50): Show |
a0004a0005a0007others(8): Show | a0004c0004a0004c0017a0004c0018others(23): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(37): Show | a0004c0004t0001g0145a0004c0004t0001g0155a0004c0004t0001g0167others(50): Show | 53 | 188 | 0.2819 | 0 | c.492 others(4): Show |
p.His others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 35/36 | 5058/6233 | 4920/5118 | 1640/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73940855 | T | C | missense_variant | MODERATE | HG00408.hp1 HG00621.hp1 HG03704.hp2 others(5): Show |
a0017a0023a0026others(4): Show | a0017c0062a0017c0066a0023c0041others(5): Show | a0017c0062t0007a0017c0066t0001a0023c0041t0001others(5): Show | a0017c0062t0007g0171a0017c0066t0001g0015a0023c0041t0001g0079others(5): Show | 8 | 188 | 0.0426 | 0 | c.496 others(4): Show |
p.Ser others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 36/36 | 5098/6233 | 4960/5118 | 1654/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73940901 | C | T | missense_variant | MODERATE | NA18962.hp1 | a0033 | a0033c0067 | a0033c0067t0001 | a0033c0067t0001g0056 | 1 | 188 | 0.0053 | 0 | c.500 others(4): Show |
p.Pro others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 36/36 | 5144/6233 | 5006/5118 | 1669/1705 | chr5 | TogoVar | ||
ARHGEF28_chr5_73621196_73946990 | 73940968 | T | G | missense_variant | MODERATE | NA19030.hp1 | a0039 | a0039c0051 | a0039c0051t0001 | a0039c0051t0001g0150 | 1 | 188 | 0.0053 | 0 | c.507 others(4): Show |
p.Asp others(7): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 36/36 | 5211/6233 | 5073/5118 | 1691/1705 | chr5 | TogoVar | ||
ARHGEF2_chr1_155941854_155983547 | 155947968 | C | A | missense_variant | MODERATE | NA18985.hp2 NA19067.hp1 NA19077.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0067a0003c0004t0001g0069a0003c0004t0001g0073 | 3 | 284 | 0.0106 | 0 | c.293 others(4): Show |
p.Gly others(6): Show |
ARHGEF2 | ENSG00000116584.22 | transcript | ENST00000361247.9 | protein_coding | 22/22 | 3055/4169 | 2935/2961 | 979/986 | chr1 | TogoVar | ||
ARHGEF2_chr1_155941854_155983547 | 155950335 | C | A | missense_variant | MODERATE | HG02486.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0222a0002c0002t0001g0228others(1): Show | 5 | 284 | 0.0176 | 0 | c.285 others(4): Show |
p.Gly others(6): Show |
ARHGEF2 | ENSG00000116584.22 | transcript | ENST00000361247.9 | protein_coding | 21/22 | 2971/4169 | 2851/2961 | 951/986 | chr1 | TogoVar | ||
ARHGEF2_chr1_155941854_155983547 | 155957716 | C | T | missense_variant | MODERATE | HG02809.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0157 | 1 | 284 | 0.0035 | 0 | c.171 others(4): Show |
p.Arg others(6): Show |
ARHGEF2 | ENSG00000116584.22 | transcript | ENST00000361247.9 | protein_coding | 13/22 | 1832/4169 | 1712/2961 | 571/986 | chr1 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38928925 | G | A | missense_variant | MODERATE | NA18953.hp2 | a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0170 | 1 | 278 | 0.0036 | 0 | c.94G others(2): Show |
p.Glu others(5): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 5/18 | 364/4494 | 94/2613 | 32/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38931156 | C | G | missense_variant | MODERATE | HG01257.hp1 HG01258.hp2 HG03017.hp2 |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0012 | a0003c0005t0001g0002a0003c0005t0001g0139a0003c0005t0012g0002 | 3 | 278 | 0.0108 | 0 | c.410 others(3): Show |
p.Ala others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 7/18 | 680/4494 | 410/2613 | 137/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38937535 | G | A | missense_variant | MODERATE | NA19043.hp2 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0214 | 1 | 278 | 0.0036 | 0 | c.766 others(3): Show |
p.Val others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 9/18 | 1036/4494 | 766/2613 | 256/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38953177 | T | C | missense_variant | MODERATE | NA18977.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0129 | 1 | 278 | 0.0036 | 0 | c.106 others(4): Show |
p.Tyr others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 12/18 | 1339/4494 | 1069/2613 | 357/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38959867 | G | C | missense_variant | MODERATE | HG01981.hp1 | a0010 | a0010c0010 | a0010c0010t0005 | a0010c0010t0005g0063 | 1 | 278 | 0.0036 | 0 | c.156 others(4): Show |
p.Ser others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 16/18 | 1832/4494 | 1562/2613 | 521/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38960049 | T | C | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(239): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0066others(234): Show | 242 | 278 | 0.8705 | 0 | c.174 others(4): Show |
p.Ser others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 16/18 | 2014/4494 | 1744/2613 | 582/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38960076 | G | T | missense_variant | MODERATE | HG00738.hp1 HG01081.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0100a0004c0006t0001g0102 | 2 | 278 | 0.0072 | 0 | c.177 others(4): Show |
p.Val others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 16/18 | 2041/4494 | 1771/2613 | 591/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38960196 | G | A | missense_variant | MODERATE | NA18955.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0186 | 1 | 278 | 0.0036 | 0 | c.189 others(4): Show |
p.Glu others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 16/18 | 2161/4494 | 1891/2613 | 631/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38960551 | C | G | missense_variant | MODERATE | HG01978.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0033 | 1 | 278 | 0.0036 | 0 | c.224 others(4): Show |
p.Pro others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 16/18 | 2516/4494 | 2246/2613 | 749/870 | chr2 | TogoVar | ||
ARHGEF33_chr2_38884875_38980454 | 38960581 | C | T | missense_variant | MODERATE | HG02723.hp2 | a0007 | a0007c0011 | a0007c0011t0016 | a0007c0011t0016g0210 | 1 | 278 | 0.0036 | 0 | c.227 others(4): Show |
p.Ala others(6): Show |
ARHGEF33 | ENSG00000214694.13 | transcript | ENST00000409978.7 | protein_coding | 16/18 | 2546/4494 | 2276/2613 | 759/870 | chr2 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187113 | C | T | missense_variant | MODERATE | NA18995.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0074 | 1 | 383 | 0.0026 | 0 | c.127 others(4): Show |
p.Gly others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 1579/2609 | 1271/1455 | 424/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187184 | A | C | missense_variant | MODERATE | HG02896.hp2 HG02897.hp2 HG03130.hp2 others(1): Show |
a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0034a0006c0005t0002g0195 | 4 | 383 | 0.0104 | 0 | c.120 others(4): Show |
p.Asn others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 1508/2609 | 1200/1455 | 400/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187750 | A | G | missense_variant | MODERATE | HG01433.hp2 HG02738.hp1 HG03579.hp2 others(1): Show |
a0007a0011 | a0007c0008a0011c0022 | a0007c0008t0002a0011c0022t0001 | a0007c0008t0002g0055a0007c0008t0002g0159a0011c0022t0001g0076 | 4 | 383 | 0.0104 | 0 | c.634 others(3): Show |
p.Ser others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 942/2609 | 634/1455 | 212/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187789 | C | A | missense_variant | MODERATE | HG01433.hp2 HG02738.hp1 HG02818.hp1 others(6): Show |
a0005a0007a0011 | a0005c0006a0005c0015a0007c0008others(1): Show | a0005c0006t0005a0005c0006t0017a0005c0015t0002others(2): Show | a0005c0006t0005g0035a0005c0006t0005g0084a0005c0006t0017g0062others(4): Show | 9 | 383 | 0.0235 | 0 | c.595 others(3): Show |
p.Ala others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 903/2609 | 595/1455 | 199/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187848 | T | C | missense_variant | MODERATE | HG00642.hp1 | a0010 | a0010c0021 | a0010c0021t0014 | a0010c0021t0014g0075 | 1 | 383 | 0.0026 | 0 | c.536 others(3): Show |
p.Gln others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 844/2609 | 536/1455 | 179/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187860 | T | C | missense_variant | MODERATE | HG00423.hp2 HG01257.hp2 HG01258.hp1 others(12): Show |
a0003a0011 | a0003c0004a0011c0022 | a0003c0004t0001a0011c0022t0001 | a0003c0004t0001g0011a0003c0004t0001g0027a0003c0004t0001g0045others(5): Show | 15 | 383 | 0.0392 | 0 | c.524 others(3): Show |
p.Asp others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 832/2609 | 524/1455 | 175/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187951 | T | C | missense_variant | MODERATE | HG01243.hp2 NA18747.hp1 NA18956.hp2 others(3): Show |
a0004 | a0004c0007a0004c0010 | a0004c0007t0001a0004c0010t0001 | a0004c0007t0001g0020a0004c0010t0001g0108a0004c0010t0001g0124 | 6 | 383 | 0.0157 | 0 | c.433 others(3): Show |
p.Ser others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 741/2609 | 433/1455 | 145/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144187965 | G | A | missense_variant | MODERATE | HG02976.hp1 | a0008 | a0008c0016 | a0008c0016t0011 | a0008c0016t0011g0059 | 1 | 383 | 0.0026 | 0 | c.419 others(3): Show |
p.Ser others(6): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 727/2609 | 419/1455 | 140/484 | chr7 | TogoVar | ||
ARHGEF35_chr7_144181083_144200833 | 144188361 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(240): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0017others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(109): Show | 243 | 383 | 0.6345 | 0 | c.23A others(2): Show |
p.His others(4): Show |
ARHGEF35 | ENSG00000213214.6 | transcript | ENST00000378115.3 | protein_coding | 2/2 | 331/2609 | 23/1455 | 8/484 | chr7 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149597844 | C | G | missense_variant | MODERATE | HG03471.hp1 | a0024 | a0024c0037 | a0024c0037t0003 | a0024c0037t0003g0363 | 1 | 394 | 0.0025 | 0 | c.75C others(2): Show |
p.Asp others(5): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 2/13 | 213/4943 | 75/2028 | 25/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149609652 | C | T | missense_variant | MODERATE | HG02615.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0011 | a0011c0014 | a0011c0014t0011a0011c0014t0023a0011c0014t0035 | a0011c0014t0011g0275a0011c0014t0023g0003a0011c0014t0035g0025 | 4 | 394 | 0.0102 | 0 | c.415 others(3): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 4/13 | 553/4943 | 415/2028 | 139/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149609653 | C | T | missense_variant | MODERATE | HG00558.hp1 HG01069.hp2 HG01071.hp1 others(5): Show |
a0009a0013a0020 | a0009c0013a0013c0026a0020c0032 | a0009c0013t0011a0009c0013t0021a0013c0026t0003others(1): Show | a0009c0013t0011g0011a0009c0013t0011g0329a0009c0013t0021g0108others(4): Show | 8 | 394 | 0.0203 | 0 | c.416 others(3): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 4/13 | 554/4943 | 416/2028 | 139/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149616569 | C | T | missense_variant others(1): Show |
MODERATE | HG00673.hp1 HG02129.hp2 |
a0014 | a0014c0022 | a0014c0022t0004 | a0014c0022t0004g0344a0014c0022t0004g0366 | 2 | 394 | 0.0051 | 0 | c.461 others(3): Show |
p.Pro others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 5/13 | 599/4943 | 461/2028 | 154/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149618234 | C | A | missense_variant | MODERATE | NA18978.hp1 NA18994.hp1 |
a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0089a0015c0018t0001g0091 | 2 | 394 | 0.0051 | 0 | c.717 others(3): Show |
p.Asn others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 6/13 | 855/4943 | 717/2028 | 239/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149619019 | G | A | missense_variant | MODERATE | HG00621.hp1 HG02074.hp1 NA18942.hp1 others(11): Show |
a0007 | a0007c0008 | a0007c0008t0001a0007c0008t0003 | a0007c0008t0001g0026a0007c0008t0001g0051a0007c0008t0001g0052others(11): Show | 14 | 394 | 0.0355 | 0 | c.871 others(3): Show |
p.Ala others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 7/13 | 1009/4943 | 871/2028 | 291/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149621790 | C | T | missense_variant | MODERATE | HG01167.hp2 HG01169.hp2 |
a0016 | a0016c0025 | a0016c0025t0013 | a0016c0025t0013g0262a0016c0025t0013g0263 | 2 | 394 | 0.0051 | 0 | c.106 others(4): Show |
p.Leu others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 9/13 | 1201/4943 | 1063/2028 | 355/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149621988 | A | C | missense_variant | MODERATE | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(178): Show |
a0002a0004a0005others(9): Show | a0002c0001a0002c0024a0004c0004others(16): Show | a0002c0001t0001a0002c0001t0003a0002c0001t0018others(28): Show | a0002c0001t0001g0014a0002c0001t0001g0015a0002c0001t0001g0016others(175): Show | 181 | 394 | 0.4594 | 0 | c.126 others(4): Show |
p.Met others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 9/13 | 1399/4943 | 1261/2028 | 421/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149624027 | G | T | missense_variant | MODERATE | HG02027.hp1 NA18989.hp1 NA19091.hp1 |
a0012 | a0012c0016 | a0012c0016t0012 | a0012c0016t0012g0053a0012c0016t0012g0072a0012c0016t0012g0095 | 3 | 394 | 0.0076 | 0 | c.135 others(4): Show |
p.Val others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 10/13 | 1489/4943 | 1351/2028 | 451/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149624063 | G | A | missense_variant | MODERATE | HG01256.hp1 HG01258.hp2 HG01934.hp1 others(1): Show |
a0010 | a0010c0015 | a0010c0015t0005 | a0010c0015t0005g0182a0010c0015t0005g0183a0010c0015t0005g0203others(1): Show | 4 | 394 | 0.0102 | 0 | c.138 others(4): Show |
p.Ala others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 10/13 | 1525/4943 | 1387/2028 | 463/675 | chr5 | TogoVar | ||
ARHGEF37_chr5_149576498_149639968 | 149624064 | C | T | missense_variant | MODERATE | HG00280.hp2 HG00438.hp1 HG00597.hp2 others(53): Show |
a0004a0020 | a0004c0004a0004c0010a0004c0036others(1): Show | a0004c0004t0002a0004c0004t0004a0004c0004t0009others(9): Show | a0004c0004t0002g0228a0004c0004t0004g0006a0004c0004t0004g0013others(50): Show | 56 | 394 | 0.1421 | 0 | c.138 others(4): Show |
p.Ala others(6): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 10/13 | 1526/4943 | 1388/2028 | 463/675 | chr5 | TogoVar |