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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(838): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 344 | 0.0029 | 845 | c.85- others(862): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(838): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18939.hp1 NA18941.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0104others(4): Show | 7 | 230 | 0.0304 | 845 | c.724 others(864): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084509 | A | AGTAGTGG others(838): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262 | 1 | 298 | 0.0034 | 845 | c.126 others(862): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154779089 | C | CTCTACCA others(838): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0005 | a0002c0005t0015 | a0002c0005t0015g0011 | 1 | 38 | 0.0263 | 845 | c.113 others(864): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DSC1_chr18_31124236_31167856 | 31152938 | T | TTGCAAGT others(838): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0016 | a0003c0016t0005 | a0003c0016t0005g0115 | 1 | 378 | 0.0027 | 845 | c.627 others(862): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31152938 | T | TTGCAAGT others(838): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0015a0001c0008t0001g0109a0001c0008t0001g0110others(2): Show | 6 | 378 | 0.0159 | 845 | c.627 others(862): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCTT others(838): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0025 | a0025c0033 | a0025c0033t0007 | a0025c0033t0007g0024 | 1 | 174 | 0.0058 | 845 | c.193 others(864): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
JAG2_chr14_105135995_105173776 | 105162619 | A | AGCACTGC others(838): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 364 | 0.0028 | 845 | c.418 others(862): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284532 | T | TAATAATA others(838): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01074.hp1 others(16): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0003a0001c0001t0016a0001c0001t0021others(2): Show | a0001c0001t0003g0000a0001c0001t0016g0000a0001c0001t0021g0000others(2): Show | 19 | 408 | 0.0466 | 845 | c.-30 others(856): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2911 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284535 | T | TAATAATA others(838): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 408 | 0.0049 | 845 | c.-30 others(856): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2914 | chr19 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149568 | T | TCTCCTCA others(838): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 308 | 0.0033 | 845 | c.*67 others(856): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3977 | chr1 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(838): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0057 | 1 | 230 | 0.0044 | 845 | c.213 others(864): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(838): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00639.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0010a0003c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0148others(33): Show | 36 | 230 | 0.1565 | 845 | c.213 others(864): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(838): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0140a0001c0001t0001g0155a0001c0001t0003g0142others(5): Show | 8 | 230 | 0.0348 | 845 | c.213 others(864): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(838): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0018 | a0001c0002t0013a0001c0005t0005a0001c0018t0019 | a0001c0002t0013g0020a0001c0002t0013g0140a0001c0005t0005g0027others(1): Show | 4 | 326 | 0.0123 | 845 | c.162 others(864): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(838): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0030 | a0030c0063 | a0030c0063t0003 | a0030c0063t0003g0293 | 1 | 308 | 0.0033 | 845 | c.371 others(862): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(838): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02280.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0014a0001c0001t0042others(4): Show | a0001c0001t0011g0022a0001c0001t0014g0069a0001c0001t0042g0124others(4): Show | 7 | 210 | 0.0333 | 845 | c.438 others(864): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(838): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0021 | a0001c0021t0049 | a0001c0021t0049g0023 | 1 | 210 | 0.0048 | 845 | c.438 others(864): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113161764 | G | GTCCTCCT others(838): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 378 | 0.0027 | 845 | c.259 others(860): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PXDN_chr2_1626887_1749515 | 1707307 | T | TTCACCAA others(838): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0304 | 1 | 322 | 0.0031 | 845 | c.201 others(864): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(838): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0052 | a0005c0052t0001 | a0005c0052t0001g0159 | 1 | 312 | 0.0032 | 845 | c.188 others(864): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RGS12_chr4_3288021_3444913 | 3341673 | A | AGGGTGGA others(838): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0155 | 1 | 312 | 0.0032 | 845 | c.188 others(864): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(838): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0193 | 1 | 334 | 0.0030 | 845 | c.45- others(860): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(838): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 308 | 0.0033 | 845 | c.-75 others(864): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668499 | C | CACCCTCC others(838): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0168 | 1 | 262 | 0.0038 | 845 | c.249 others(864): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(838): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 203 | 0.0049 | 845 | c.-12 others(864): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(838): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0023 | a0011c0023t0001 | a0011c0023t0001g0264 | 1 | 290 | 0.0035 | 845 | c.464 others(858): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(838): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0238 | 2 | 290 | 0.0069 | 845 | c.464 others(858): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289848 | T | TCTCTGCT others(838): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0015 | 1 | 290 | 0.0035 | 845 | c.166 others(862): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(838): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0199 | 1 | 218 | 0.0046 | 845 | c.323 others(864): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(838): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0092 | 2 | 132 | 0.0152 | 845 | c.227 others(864): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(838): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0170 | 2 | 322 | 0.0062 | 845 | c.597 others(862): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(838): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02083.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0024a0001c0001t0028others(4): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0111others(20): Show | 23 | 322 | 0.0714 | 845 | c.597 others(862): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628356 | C | CGGGGTGA others(838): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0058 | 1 | 352 | 0.0028 | 845 | c.299 others(860): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312850 | G | GGCCTCAT others(838): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02055.hp2 HG02083.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0043others(8): Show | 12 | 344 | 0.0349 | 845 | c.327 others(862): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312850 | G | GGCCTCAT others(838): Show |
intron_variant | MODIFIER | NA18975.hp2 NA18998.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0022 | a0001c0001t0001g0137a0001c0001t0016g0142a0001c0001t0022g0140 | 3 | 344 | 0.0087 | 845 | c.327 others(862): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113812964 | C | CCCCAGGT others(838): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0016 | a0001c0016t0042 | a0001c0016t0042g0235 | 1 | 260 | 0.0039 | 845 | c.*10 others(856): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 1065 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(838): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 360 | 0.0028 | 845 | c.*24 others(856): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(838): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0384 | 1 | 468 | 0.0021 | 845 | c.-6- others(860): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | ||||||
UMAD1_chr7_7635752_7884223 | 7679092 | T | TATAAATA others(838): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 250 | 0.0040 | 845 | c.82+ others(860): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAC others(839): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0021a0001c0009t0002g0123 | 2 | 248 | 0.0081 | 846 | c.387 others(865): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(839): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0066 | a0001c0001t0011g0232a0001c0001t0066g0236 | 2 | 337 | 0.0059 | 846 | c.61+ others(861): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(839): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120 | 1 | 182 | 0.0055 | 846 | c.505 others(865): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(839): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 182 | 0.0055 | 846 | c.505 others(865): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(839): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0007 | 1 | 169 | 0.0059 | 846 | c.48- others(863): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(839): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 334 | 0.0030 | 846 | c.838 others(861): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350011 | G | GAGGGGAA others(839): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0333 | 1 | 334 | 0.0030 | 846 | c.838 others(861): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(839): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 334 | 0.0030 | 846 | c.838 others(861): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(839): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 |
a0001a0015 | a0001c0106a0015c0072 | a0001c0106t0042a0015c0072t0007 | a0001c0106t0042g0330a0015c0072t0007g0329 | 2 | 363 | 0.0055 | 846 | c.-48 others(863): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARSF_chrX_3036471_3117727 | 3037056 | T | TTATATAT others(839): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 193 | 0.0052 | 846 | c.-46 others(857): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar |