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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP45_chr19_1062167_1091628 | 1080123 | C | T | splice_region_variant others(1): Show |
LOW | homoSapiens_chm13v2.hp1 | a0013 | a0013c0033 | a0013c0033t0005 | a0013c0033t0005g0233 | 1 | 418 | 0.0024 | 0 | c.170 others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 13/22 | chr19 | TogoVar | ||||||
ARHGAP45_chr19_1062167_1091628 | 1080552 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02717.hp2 |
a0012 | a0012c0027 | a0012c0027t0009 | a0012c0027t0009g0034 | 2 | 418 | 0.0048 | 0 | c.191 others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 15/22 | chr19 | TogoVar | ||||||
ARHGAP45_chr19_1062167_1091628 | 1080682 | G | A | missense_variant others(1): Show |
MODERATE | NA18994.hp1 NA19010.hp2 NA19062.hp2 others(1): Show |
a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0002a0010c0013t0012g0170a0010c0013t0012g0284 | 4 | 418 | 0.0096 | 0 | c.191 others(4): Show |
p.Gly others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 16/23 | 2152/4272 | 1913/3411 | 638/1136 | chr19 | TogoVar | ||
ARHGAP45_chr19_1062167_1091628 | 1082836 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02615.hp1 HG02717.hp2 others(1): Show |
a0012a0018a0023 | a0012c0027a0018c0055a0023c0045 | a0012c0027t0009a0018c0055t0006a0023c0045t0002 | a0012c0027t0009g0034a0018c0055t0006g0301a0023c0045t0002g0053 | 4 | 418 | 0.0096 | 0 | c.251 others(6): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 19/22 | chr19 | TogoVar | ||||||
ARHGAP45_chr19_1062167_1091628 | 1084346 | GGTGA | G | splice_region_variant others(1): Show |
LOW | NA18970.hp2 NA18971.hp1 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208a0001c0002t0001g0243a0001c0002t0001g0262 | 3 | 418 | 0.0072 | -4 | c.306 others(17): Show |
ARHGAP45 | ENSG00000180448.11 | transcript | ENST00000313093.7 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGAP4_chrX_153902378_153931264 | 153909434 | CT | C | splice_region_variant others(1): Show |
LOW | NA19078.hp1 | a0005 | a0005c0024 | a0005c0024t0001 | a0005c0024t0001g0181 | 1 | 308 | 0.0033 | -1 | c.250 others(7): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 20/21 | chrX | TogoVar | ||||||
ARHGAP4_chrX_153902378_153931264 | 153910915 | TC | T | splice_region_variant others(1): Show |
LOW | NA19063.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0089 | 1 | 308 | 0.0033 | -1 | c.168 others(7): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 14/21 | chrX | TogoVar | ||||||
ARHGAP4_chrX_153902378_153931264 | 153911191 | TG | T | splice_region_variant others(1): Show |
LOW | NA19063.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0089 | 1 | 308 | 0.0033 | -1 | c.154 others(7): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 12/21 | chrX | TogoVar | ||||||
ARHGAP4_chrX_153902378_153931264 | 153919061 | G | A | splice_region_variant others(1): Show |
LOW | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 308 | 0.0033 | 0 | c.811 others(5): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 6/21 | chrX | TogoVar | ||||||
ARHGAP4_chrX_153902378_153931264 | 153926129 | C | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG02976.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041 | 3 | 308 | 0.0097 | 0 | c.67+ others(4): Show |
ARHGAP4 | ENSG00000089820.17 | transcript | ENST00000350060.10 | protein_coding | 1/21 | chrX | TogoVar | ||||||
ARHGAP5_chr14_32072304_32164728 | 32117136 | A | G | splice_region_variant others(1): Show |
LOW | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 186 | 0.0054 | 0 | c.371 others(6): Show |
ARHGAP5 | ENSG00000100852.14 | transcript | ENST00000345122.8 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44786453 | G | T | splice_region_variant others(1): Show |
LOW | NA18954.hp2 | a0002 | a0002c0013 | a0002c0013t0007 | a0002c0013t0007g0187 | 1 | 390 | 0.0026 | 0 | c.-71 others(5): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44849065 | G | A | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0173a0001c0001t0009g0321 | 2 | 390 | 0.0051 | 0 | c.877 others(5): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 10/11 | chr22 | TogoVar | ||||||
ARHGAP8_chr22_44747575_44867784 | 44859834 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02257.hp2 HG02559.hp2 others(3): Show |
a0002a0012 | a0002c0019a0002c0068a0012c0038others(1): Show | a0002c0019t0008a0002c0068t0008a0012c0038t0005others(1): Show | a0002c0019t0008g0040a0002c0019t0008g0046a0002c0019t0008g0313others(3): Show | 6 | 390 | 0.0154 | 0 | c.981 others(3): Show |
p.Ala others(6): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 11/12 | 1105/1615 | 981/1302 | 327/433 | chr22 | TogoVar | ||
ARHGAP8_chr22_44747575_44867784 | 44859834 | G | C | splice_region_variant others(1): Show |
LOW | HG00642.hp2 | a0001 | a0001c0039 | a0001c0039t0003 | a0001c0039t0003g0384 | 1 | 390 | 0.0026 | 0 | c.981 others(3): Show |
p.Ala others(6): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 11/12 | 1105/1615 | 981/1302 | 327/433 | chr22 | TogoVar | ||
ARHGAP8_chr22_44747575_44867784 | 44862269 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0139 | 1 | 390 | 0.0026 | 0 | c.982 others(5): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 11/11 | chr22 | TogoVar | ||||||
ARHGAP9_chr12_57467269_57484866 | 57472269 | T | C | splice_region_variant | LOW | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0102 | 1 | 406 | 0.0025 | 0 | c.*24 others(4): Show |
ARHGAP9 | ENSG00000123329.20 | transcript | ENST00000393791.8 | protein_coding | 18/18 | chr12 | TogoVar | ||||||
ARHGAP9_chr12_57467269_57484866 | 57476865 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0017others(81): Show | 349 | 406 | 0.8596 | 0 | c.963 others(5): Show |
ARHGAP9 | ENSG00000123329.20 | transcript | ENST00000393791.8 | protein_coding | 6/17 | chr12 | TogoVar | ||||||
ARHGDIA_chr17_81862721_81876337 | 81871291 | C | T | splice_region_variant others(1): Show |
LOW | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 384 | 0.0026 | 0 | c.-28 others(5): Show |
ARHGDIA | ENSG00000141522.12 | transcript | ENST00000269321.12 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
ARHGDIB_chr12_14937031_14966601 | 14949893 | A | T | splice_region_variant others(1): Show |
LOW | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 464 | 0.0022 | 0 | c.182 others(5): Show |
ARHGDIB | ENSG00000111348.9 | transcript | ENST00000228945.9 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17622992 | G | T | splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG02280.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0005 | a0001c0019a0002c0007a0005c0024 | a0001c0019t0001a0002c0007t0002a0005c0024t0002 | a0001c0019t0001g0066a0002c0007t0002g0013a0002c0007t0002g0058others(4): Show | 7 | 168 | 0.0417 | 0 | c.102 others(6): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 11/28 | chr1 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17634543 | C | G | splice_region_variant others(1): Show |
LOW | NA18982.hp1 | a0018 | a0018c0049 | a0018c0049t0004 | a0018c0049t0004g0075 | 1 | 168 | 0.0060 | 0 | c.173 others(6): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 16/28 | chr1 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1864360 | TCTTTCCC others(5): Show |
T | splice_acceptor_variant others(2): Show |
HIGH | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 363 | 0.0028 | -12 | c.482 others(24): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1864367 | C | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0104 | 1 | 363 | 0.0028 | 0 | c.482 others(5): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1864369 | G | C | splice_region_variant others(1): Show |
LOW | HG02886.hp1 | a0001 | a0001c0154 | a0001c0154t0009 | a0001c0154t0009g0265 | 1 | 363 | 0.0028 | 0 | c.482 others(5): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1876734 | A | C | missense_variant others(1): Show |
MODERATE | HG02132.hp1 | a0014 | a0014c0107 | a0014c0107t0004 | a0014c0107t0004g0135 | 1 | 363 | 0.0028 | 0 | c.843 others(3): Show |
p.Gln others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 8/29 | 1078/5648 | 843/4035 | 281/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1882628 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(60): Show |
a0001a0002a0008others(3): Show | a0001c0003a0001c0085a0001c0132others(40): Show | a0001c0003t0020a0001c0085t0001a0001c0132t0020others(51): Show | a0001c0003t0020g0083a0001c0085t0001g0231a0001c0132t0020g0084others(59): Show | 63 | 363 | 0.1736 | 0 | c.961 others(5): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 9/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1893650 | C | T | splice_region_variant others(1): Show |
LOW | HG02922.hp2 | a0012 | a0012c0130 | a0012c0130t0073 | a0012c0130t0073g0342 | 1 | 363 | 0.0028 | 0 | c.126 others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 12/28 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1905567 | C | G | splice_region_variant others(1): Show |
LOW | HG01496.hp2 | a0001 | a0001c0095 | a0001c0095t0011 | a0001c0095t0011g0344 | 1 | 363 | 0.0028 | 0 | c.182 others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 16/28 | chr8 | TogoVar | ||||||
ARHGEF11_chr1_156929840_157050742 | 156969275 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(80): Show |
a0002a0003 | a0002c0002a0002c0008a0003c0003 | a0002c0002t0002a0002c0002t0011a0002c0002t0012others(6): Show | a0002c0002t0002g0001a0002c0002t0002g0005a0002c0002t0002g0028others(79): Show | 83 | 362 | 0.2293 | 0 | c.825 others(5): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 10/40 | chr1 | TogoVar | ||||||
ARHGEF11_chr1_156929840_157050742 | 156969356 | G | A | missense_variant others(1): Show |
MODERATE | HG03098.hp1 | a0010 | a0010c0014 | a0010c0014t0014 | a0010c0014t0014g0205 | 1 | 362 | 0.0028 | 0 | c.751 others(3): Show |
p.Arg others(6): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 10/41 | 2163/7261 | 751/4689 | 251/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156969991 | G | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0270a0003c0003t0003g0271 | 2 | 362 | 0.0055 | 0 | c.748 others(5): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 9/40 | chr1 | TogoVar | ||||||
ARHGEF11_chr1_156929840_157050742 | 156986077 | G | T | splice_region_variant others(1): Show |
LOW | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 362 | 0.0028 | 0 | c.124 others(5): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 2/40 | chr1 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120431918 | T | A | splice_region_variant others(1): Show |
LOW | HG02486.hp2 HG02723.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0019a0001c0001t0002g0102a0001c0001t0002g0124others(1): Show | 4 | 308 | 0.0130 | 0 | c.924 others(5): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 11/40 | chr11 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120448355 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(141): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(23): Show | a0001c0001t0002g0018a0001c0001t0002g0019a0001c0001t0002g0021others(140): Show | 144 | 308 | 0.4675 | 0 | c.173 others(6): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 20/40 | chr11 | TogoVar | ||||||
ARHGEF12_chr11_120331413_120494937 | 120477419 | G | GT | splice_region_variant others(1): Show |
LOW | HG00621.hp1 HG02056.hp1 HG02145.hp1 others(5): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0004t0005others(2): Show | a0001c0001t0001g0180a0001c0001t0001g0191a0001c0001t0001g0289others(5): Show | 8 | 308 | 0.0260 | 1 | c.345 others(7): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 35/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF15_chr17_8305241_8327511 | 8310343 | G | A | splice_region_variant | LOW | HG00558.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0003 | 1 | 428 | 0.0023 | 0 | c.-50 others(3): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 1/16 | chr17 | TogoVar | ||||||
ARHGEF15_chr17_8305241_8327511 | 8315285 | C | G | splice_region_variant others(1): Show |
LOW | HG02486.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0080 | 1 | 428 | 0.0023 | 0 | c.126 others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 6/15 | chr17 | TogoVar | ||||||
ARHGEF15_chr17_8305241_8327511 | 8315573 | C | T | missense_variant others(1): Show |
MODERATE | HG03471.hp2 | a0012 | a0012c0019 | a0012c0019t0002 | a0012c0019t0002g0094 | 1 | 428 | 0.0023 | 0 | c.142 others(4): Show |
p.Arg others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 7/16 | 1572/4196 | 1420/2526 | 474/841 | chr17 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3476070 | G | C | splice_region_variant others(1): Show |
LOW | NA18991.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0255 | 1 | 334 | 0.0030 | 0 | c.147 others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477877 | C | T | splice_region_variant others(1): Show |
LOW | HG01123.hp2 HG01243.hp1 HG01261.hp1 others(25): Show |
a0002a0012a0013 | a0002c0003a0002c0014a0002c0022others(5): Show | a0002c0003t0002a0002c0014t0006a0002c0022t0002others(5): Show | a0002c0003t0002g0002a0002c0003t0002g0004a0002c0003t0002g0005others(15): Show | 28 | 334 | 0.0838 | 0 | c.147 others(4): Show |
p.Ser others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 11/15 | 1642/2822 | 1476/2130 | 492/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3478424 | C | T | splice_region_variant others(1): Show |
LOW | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0013 | 2 | 334 | 0.0060 | 0 | c.162 others(4): Show |
p.Ser others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 12/15 | 1792/2822 | 1626/2130 | 542/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3478610 | C | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(32): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0021a0002c0002t0002g0006a0002c0002t0002g0035others(31): Show | 35 | 334 | 0.1048 | 0 | c.181 others(4): Show |
p.Ser others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 12/15 | 1978/2822 | 1812/2130 | 604/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3478612 | C | T | missense_variant others(1): Show |
MODERATE | HG01243.hp1 | a0013 | a0013c0032 | a0013c0032t0002 | a0013c0032t0002g0017 | 1 | 334 | 0.0030 | 0 | c.181 others(4): Show |
p.Ala others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 12/15 | 1980/2822 | 1814/2130 | 605/709 | chr1 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73364166 | A | G | splice_region_variant others(1): Show |
LOW | HG02559.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0223 | 1 | 228 | 0.0044 | 0 | c.533 others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 16/20 | chr11 | TogoVar | ||||||
ARHGEF17_chr11_73303276_73374388 | 73369386 | G | A | splice_region_variant | LOW | HG01106.hp2 HG01884.hp2 HG03453.hp1 |
a0002 | a0002c0008a0002c0035 | a0002c0008t0006a0002c0035t0006 | a0002c0008t0006g0140a0002c0008t0006g0142a0002c0035t0006g0141 | 3 | 228 | 0.0132 | 0 | c.*16 others(5): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 21/21 | chr11 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7372806 | C | T | splice_region_variant others(1): Show |
LOW | NA18954.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0199 | 1 | 298 | 0.0034 | 0 | c.16- others(4): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 2/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7376763 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00639.hp2 HG00673.hp2 others(59): Show |
a0001a0003a0013others(4): Show | a0001c0001a0001c0002a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(21): Show | a0001c0001t0001g0216a0001c0001t0002g0012a0001c0001t0002g0181others(59): Show | 62 | 298 | 0.2081 | 0 | c.541 others(5): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 5/28 | chr19 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7378450 | G | A | missense_variant others(1): Show |
MODERATE | HG02717.hp1 | a0026 | a0026c0029 | a0026c0029t0020 | a0026c0029t0020g0272 | 1 | 298 | 0.0034 | 0 | c.598 others(3): Show |
p.Val others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 6/29 | 1013/6681 | 598/4086 | 200/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7440481 | G | A | missense_variant others(1): Show |
MODERATE | HG02976.hp1 | a0033 | a0033c0030 | a0033c0030t0006 | a0033c0030t0006g0255 | 1 | 298 | 0.0034 | 0 | c.110 others(4): Show |
p.Gly others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 11/29 | 1520/6681 | 1105/4086 | 369/1361 | chr19 | TogoVar |