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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCN3_chr10_5359966_5379692 | 5369863 | G | GTGTGTGT others(171): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0073 | 1 | 468 | 0.0021 | 178 | c.-6- others(193): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5369954 | T | TGTGTGTA others(171): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 468 | 0.0021 | 178 | c.-6- others(193): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370838 | C | CGTGTGTA others(171): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 468 | 0.0021 | 178 | c.-6- others(193): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917187 | C | CGGAGGCT others(171): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0035 | a0001c0001t0002a0001c0035t0008 | a0001c0001t0002g0148 a0001c0035t0008g0158 |
2 | 344 | 0.0058 | 178 | c.218 others(195): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917196 | C | CTCGGAGG others(171): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0128 a0002c0008t0004g0129 |
2 | 344 | 0.0058 | 178 | c.218 others(195): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679384 | A | ATATATTT others(171): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0122 | 1 | 250 | 0.0040 | 178 | c.82+ others(193): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109106906 | T | TGTATATA others(171): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 452 | 0.0022 | 178 | c.802 others(195): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
VAV1_chr19_6767708_6862361 | 6794047 | T | TACCAATA others(171): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02622.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0090 a0001c0001t0001g0106 |
3 | 306 | 0.0098 | 178 | c.204 others(197): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169532 | T | TCCCTCCC others(171): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0022 | 1 | 115 | 0.0087 | 178 | c.*49 others(187): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 411 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467034 | G | GGGGAGGG others(171): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0035 | 1 | 271 | 0.0037 | 178 | c.*65 others(187): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 525 | chrX | TogoVar | |||||||
VLDLR_chr9_2616787_2665056 | 2662898 | A | AAGTTCTT others(171): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0001c0001t0081a0001c0001t0088others(2): Show | a0001c0001t0029g0187 a0001c0001t0029g0190 a0001c0001t0029g0305 others(4): Show |
7 | 392 | 0.0179 | 178 | c.*90 others(189): Show |
VLDLR | ENSG00000147852.17 | transcript | ENST00000382100.8 | protein_coding | 2843 | chr9 | TogoVar | |||||||
VMO1_chr17_4780285_4791364 | 4781203 | A | ACCTGTAA others(171): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG03942.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 3 | 444 | 0.0068 | 178 | c.*41 others(189): Show |
VMO1 | ENSG00000182853.12 | transcript | ENST00000328739.6 | protein_coding | 4081 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 612395 | G | GTATTCAA others(171): Show |
intron_variant | MODIFIER | NA18973.hp1 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0075a0001c0002t0076 | a0001c0002t0075g0051 a0001c0002t0076g0050 |
2 | 232 | 0.0086 | 178 | c.111 others(199): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
VPS8_chr3_184807166_185057604 | 184895614 | C | CCCCCCCT others(171): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0012 | 1 | 274 | 0.0037 | 178 | c.200 others(195): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895635 | C | CTCCTCCT others(171): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0034 | 1 | 274 | 0.0037 | 178 | c.200 others(195): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | chr3 | TogoVar | |||||||
VRK2_chr2_58041806_58164871 | 58137195 | T | TATATCAT others(171): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 a0002c0002t0002g0040 |
2 | 340 | 0.0059 | 178 | c.856 others(195): Show |
VRK2 | ENSG00000028116.18 | transcript | ENST00000340157.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1740284 | G | GTGTGAGG others(171): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0002 | 1 | 431 | 0.0023 | 178 | c.*25 others(189): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1700 | chr17 | TogoVar | |||||||
WDSUB1_chr2_159230798_159291703 | 159247894 | T | TATATATA others(171): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 252 | 0.0040 | 178 | c.127 others(195): Show |
WDSUB1 | ENSG00000196151.11 | transcript | ENST00000359774.9 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(171): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00733.hp2 others(50): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0006g0012 a0001c0001t0006g0062 a0001c0001t0006g0063 others(48): Show |
53 | 394 | 0.1345 | 178 | c.39+ others(193): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21448427 | C | CCCCCCGC others(171): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 302 | 0.0033 | 178 | c.118 others(197): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
ZNF117_chr7_64966772_64996036 | 64968151 | C | CCCACCTC others(171): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 444 | 0.0023 | 178 | c.*99 others(189): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 3620 | chr7 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370751 | T | TATACGAT others(171): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 | 1 | 350 | 0.0029 | 178 | c.-37 others(189): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3617 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CGATATAT others(171): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG03516.hp1 |
a0003 | a0003c0003 | a0003c0003t0010 | a0003c0003t0010g0022 | 2 | 350 | 0.0057 | 178 | c.-36 others(189): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63965716 | C | CGACCTGG others(171): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 356 | 0.0028 | 178 | c.103 others(195): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57319427 | C | CATACATA others(171): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0004 | 1 | 460 | 0.0022 | 178 | c.-14 others(189): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1044 | chr19 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58326586 | T | TCACCCTC others(171): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 400 | 0.0025 | 178 | c.-58 others(187): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 407 | chr19 | TogoVar | |||||||
ZSCAN22_chr19_58321994_58347332 | 58326617 | T | TCTCACAC others(171): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 400 | 0.0025 | 178 | c.-54 others(187): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 376 | chr19 | TogoVar | |||||||
ZSWIM5_chr1_45011399_45211605 | 45044764 | T | TATAAATA others(171): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 234 | 0.0043 | 178 | c.143 others(197): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 5/13 | chr1 | TogoVar | |||||||
ACOT11_chr1_54543228_54615329 | 54561778 | G | GGGGGCTG others(172): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18963.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0001 | a0001c0001t0001g0236 a0001c0001t0001g0312 a0001c0024t0001g0202 |
3 | 388 | 0.0077 | 179 | c.33+ others(196): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561778 | G | GGGGGCTG others(172): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(70): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0013a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(69): Show |
73 | 388 | 0.1881 | 179 | c.33+ others(196): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561778 | G | GGGGGCTG others(172): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 |
2 | 388 | 0.0052 | 179 | c.33+ others(196): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAG others(172): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0222 | 1 | 388 | 0.0026 | 179 | c.-8- others(194): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 924160 | G | GCTGCACC others(172): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 14 | 0.0714 | 179 | c.305 others(196): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131029675 | T | TAGGTGAC others(172): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG02109.hp2 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0016a0001c0002t0001a0001c0003t0004others(4): Show | a0001c0001t0016g0147 a0001c0002t0001g0223 a0001c0003t0004g0121 others(6): Show |
9 | 242 | 0.0372 | 179 | c.147 others(200): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AFTPH_chr2_64519328_64598005 | 64536404 | T | TAAAAATA others(172): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 372 | 0.0027 | 179 | c.-33 others(198): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1596769 | C | CTCCTCCT others(172): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0105 | 1 | 151 | 0.0066 | 179 | c.911 others(196): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461400 | T | TCTGGACT others(172): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 HG02615.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0027 a0003c0004t0002g0125 a0003c0004t0002g0126 others(2): Show |
6 | 342 | 0.0175 | 179 | c.578 others(194): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99139343 | T | TTCCCTCC others(172): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0026a0004c0008t0005 | a0001c0002t0026g0047 a0004c0008t0005g0009 |
2 | 48 | 0.0417 | 179 | c.252 others(200): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
ANO7_chr2_241183677_241230976 | 241218108 | C | CGGGGGCG others(172): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0175 | 1 | 396 | 0.0025 | 179 | c.217 others(196): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
APOB_chr2_20996429_21049073 | 21000953 | A | AATTATAA others(172): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02965.hp1 |
a0005 | a0005c0004a0005c0072 | a0005c0004t0001a0005c0072t0001 | a0005c0004t0001g0032 a0005c0072t0001g0120 |
2 | 350 | 0.0057 | 179 | c.*77 others(188): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 475 | chr2 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21001219 | T | TTTAATTA others(172): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01071.hp1 others(2): Show |
a0003a0006a0009others(1): Show | a0003c0007a0006c0083a0009c0059others(1): Show | a0003c0007t0001a0006c0083t0001a0009c0059t0001others(1): Show | a0003c0007t0001g0027 a0006c0083t0001g0112 a0009c0059t0001g0094 others(1): Show |
5 | 350 | 0.0143 | 179 | c.*51 others(188): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 209 | chr2 | TogoVar | |||||||
ARHGAP28_chr18_6724716_6920716 | 6909301 | T | TTTTCTTT others(172): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0109 | 1 | 248 | 0.0040 | 179 | c.209 others(196): Show |
ARHGAP28 | ENSG00000088756.13 | transcript | ENST00000383472.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687298 | A | ACCCCGTG others(172): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0066 | 1 | 246 | 0.0041 | 179 | c.-16 others(190): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1453 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687357 | C | CGAGCACT others(172): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 246 | 0.0041 | 179 | c.-17 others(190): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1512 | chr8 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285931 | C | CCCCAACC others(172): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 442 | 0.0023 | 179 | c.*31 others(190): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2922 | chr16 | TogoVar | |||||||
ARHGDIG_chr16_275591_288010 | 285937 | C | CCCCAACC others(172): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 a0001c0001t0006g0045 |
3 | 442 | 0.0068 | 179 | c.*31 others(190): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2928 | chr16 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1873453 | C | CGCGTTTC others(172): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0354 | 1 | 363 | 0.0028 | 179 | c.680 others(196): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1919775 | A | ATGGGTGA others(172): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0056 | 1 | 363 | 0.0028 | 179 | c.214 others(198): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1919933 | A | ATGGGTGA others(172): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0176 | 1 | 363 | 0.0028 | 179 | c.214 others(198): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1920052 | G | GTGGGTGA others(172): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02083.hp2 |
a0002a0015 | a0002c0075a0015c0146 | a0002c0075t0005a0015c0146t0006 | a0002c0075t0005g0303 a0015c0146t0006g0111 |
2 | 363 | 0.0055 | 179 | c.214 others(198): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |