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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIRE2_chr16_89823475_89876319 | 89852527 | C | CTCACCCC others(891): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 |
3 | 256 | 0.0117 | 898 | c.646 others(915): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(891): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 144 | 0.0069 | 898 | c.*28 others(909): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3221982 | T | TCACCACC others(891): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 351 | 0.0028 | 898 | c.*27 others(909): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2294 | chr6 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23042957 | T | TGGGGGGA others(891): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 298 | 0.0034 | 898 | c.-34 others(909): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3389 | chr15 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95196786 | A | ATATATTT others(891): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0044 | a0002c0044t0002 | a0002c0044t0002g0073 | 1 | 3 | 0.3333 | 898 | c.213 others(917): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741764 | A | AGCAGGAC others(891): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 NA19030.hp1 NA20300.hp1 |
a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0002 a0001c0013t0003g0056 |
3 | 425 | 0.0071 | 898 | c.*40 others(909): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3180 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(892): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 | 1 | 272 | 0.0037 | 899 | c.61+ others(914): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585204 | A | ATTGAGGG others(892): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0240 | 1 | 344 | 0.0029 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(892): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0003 | 2 | 323 | 0.0062 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585360 | G | GGAGGGTA others(892): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0030 | 1 | 344 | 0.0029 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(892): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 261 | 0.0038 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(892): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 2 | 0.5000 | 899 | c.162 others(920): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 74 | 0.0135 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 74 | 0.0135 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0244 a0001c0001t0002g0250 |
3 | 76 | 0.0395 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 74 | 0.0135 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 74 | 0.0135 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0220 | 1 | 74 | 0.0135 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0011 | a0008c0011t0015 | a0008c0011t0015g0211 | 1 | 74 | 0.0135 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 HG03491.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022 | a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0285 others(2): Show |
5 | 78 | 0.0641 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(892): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 143 | 0.0070 | 899 | c.294 others(916): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(892): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18522.hp1 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0005a0003c0004t0005 | a0002c0003t0005g0131 a0003c0004t0005g0132 |
2 | 144 | 0.0139 | 899 | c.294 others(916): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(892): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 | 1 | 143 | 0.0070 | 899 | c.294 others(916): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232039 | C | CCACCACT others(892): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 382 | 0.0026 | 899 | c.513 others(916): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325930 | T | TTGGGGGA others(892): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 65 | 0.0154 | 899 | c.292 others(918): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(892): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0082 others(8): Show |
16 | 271 | 0.0590 | 899 | c.966 others(916): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(892): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 | 1 | 161 | 0.0062 | 899 | c.966 others(916): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(892): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 161 | 0.0062 | 899 | c.966 others(916): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(892): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0286 |
3 | 163 | 0.0184 | 899 | c.966 others(916): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272059 | T | TTTTTTTT others(892): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 389 | 0.0026 | 899 | c.966 others(916): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329145 | A | ACTACACG others(892): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0010 | a0010c0006 | a0010c0006t0001 | a0010c0006t0001g0047 | 1 | 69 | 0.0145 | 899 | c.199 others(918): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574398 | G | GAGAGGAG others(892): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0037 | 1 | 386 | 0.0026 | 899 | c.119 others(918): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60860769 | T | TATACGTA others(892): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 45 | 0.0222 | 899 | c.-11 others(920): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(892): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 132 | 0.0076 | 899 | c.94- others(912): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602189 | C | CCCTCCTC others(892): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0249 | 1 | 393 | 0.0025 | 899 | c.633 others(916): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(892): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 13 | 0.0769 | 899 | c.-79 others(908): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(892): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 5 | 0.2000 | 899 | c.-41 others(914): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(892): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 5 | 0.2000 | 899 | c.-41 others(914): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(892): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0004 | a0001c0004t0019 | a0001c0004t0019g0002 | 1 | 16 | 0.0625 | 899 | c.56- others(916): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(892): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0076 | 1 | 16 | 0.0625 | 899 | c.56- others(916): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(892): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0102 a0001c0001t0007g0032 |
2 | 126 | 0.0159 | 899 | c.-49 others(910): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(892): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 3 | 0.3333 | 899 | c.-12 others(918): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(892): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01978.hp1 HG02300.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0001 | a0001c0001t0001g0010 a0001c0001t0001g0243 a0002c0009t0001g0304 |
4 | 5 | 0.8000 | 899 | c.734 others(916): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(892): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 2 | 0.5000 | 899 | c.273 others(914): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGCTAT others(892): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0083 | 1 | 221 | 0.0045 | 899 | c.176 others(918): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(892): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0017 | 1 | 24 | 0.0417 | 899 | c.371 others(916): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(892): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 2 | 0.5000 | 899 | c.-28 others(910): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(892): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 2 | 0.5000 | 899 | c.-28 others(910): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(892): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG02735.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0079 |
4 | 5 | 0.8000 | 899 | c.-28 others(910): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(892): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 |
2 | 3 | 0.6667 | 899 | c.-28 others(910): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar |