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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1821): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18968.hp1 |
a0001a0022 | a0001c0002a0022c0025 | a0001c0002t0001a0022c0025t0001 | a0001c0002t0001g0056 a0022c0025t0001g0085 |
2 | 46 | 0.0435 | 1828 | c.289 others(1847): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1821): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0015 | a0002c0015t0044 | a0002c0015t0044g0083 | 1 | 3 | 0.3333 | 1828 | c.219 others(1847): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(1821): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0255 | 1 | 251 | 0.0040 | 1828 | c.635 others(1847): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(1821): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 | 1 | 22 | 0.0455 | 1828 | c.117 others(1847): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(1821): Show |
frameshift_variant others(1): Show |
HIGH | HG02071.hp2 | a0072 | a0072c0095 | a0072c0095t0001 | a0072c0095t0001g0275 | 1 | 16 | 0.0625 | 1828 | c.726 others(1837): Show |
p.Pro others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
U2AF2_chr19_55650035_55679716 | 55670432 | T | TCCGTGCA others(1821): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0320 | 1 | 385 | 0.0026 | 1828 | c.129 others(1845): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670432 | T | TCCGTGCA others(1821): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0321 | 1 | 385 | 0.0026 | 1828 | c.129 others(1845): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1821): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0007 | 1 | 21 | 0.0476 | 1828 | c.127 others(1845): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(1822): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0047 others(5): Show |
8 | 161 | 0.0497 | 1829 | c.136 others(1846): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(1822): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 154 | 0.0065 | 1829 | c.136 others(1846): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1822): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 30 | 0.0333 | 1829 | c.445 others(1844): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1328595 | T | TCATCCAG others(1822): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 368 | 0.0027 | 1829 | c.108 others(1848): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251256 | C | CCCCCACA others(1822): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0066 | 1 | 108 | 0.0093 | 1829 | c.207 others(1848): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1822): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 275 | 0.0036 | 1829 | c.467 others(1844): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47671556 | T | TTTGTGTT others(1822): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0102 | 1 | 120 | 0.0083 | 1829 | c.280 others(1846): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(1822): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0163 a0001c0001t0011g0146 |
2 | 4 | 0.5000 | 1829 | c.-12 others(1848): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1822): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02080.hp1 NA18999.hp1 |
a0001a0008 | a0001c0003a0008c0036 | a0001c0003t0001a0008c0036t0001 | a0001c0003t0001g0032 a0001c0003t0001g0101 a0008c0036t0001g0291 |
3 | 14 | 0.2143 | 1829 | c.228 others(1846): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1822): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0054 | 1 | 12 | 0.0833 | 1829 | c.228 others(1846): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCCATCTG others(1822): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02922.hp2 |
a0001a0005 | a0001c0005a0005c0056a0005c0096 | a0001c0005t0001a0005c0056t0001a0005c0096t0001 | a0001c0005t0001g0313 a0005c0056t0001g0307 a0005c0096t0001g0062 |
3 | 14 | 0.2143 | 1829 | c.228 others(1846): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77178208 | T | TCTGCCCA others(1822): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0315 | 1 | 12 | 0.0833 | 1829 | c.228 others(1846): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 19/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1822): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 5 | 0.2000 | 1829 | c.189 others(1848): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(1822): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 224 | 0.0045 | 1829 | c.*39 others(1840): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 320432 | T | TCAGAGAT others(1823): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 166 | 0.0060 | 1830 | c.827 others(1847): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(1823): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 275 | 0.0036 | 1830 | c.467 others(1845): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1823): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0140 | 1 | 95 | 0.0105 | 1830 | c.*11 others(1851): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1823): Show |
intron_variant | MODIFIER | HG02129.hp1 HG06807.hp1 |
a0002a0004 | a0002c0026a0004c0011 | a0002c0026t0025a0004c0011t0001 | a0002c0026t0025g0043 a0004c0011t0001g0137 |
2 | 96 | 0.0208 | 1830 | c.*11 others(1851): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120167 | T | TGGAGGAG others(1823): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0222 | 1 | 181 | 0.0055 | 1830 | c.353 others(1847): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1823): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 44 | 0.0227 | 1830 | c.133 others(1849): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1823): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 8 | 0.1250 | 1830 | c.-20 others(1841): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1823): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022 | a0001c0001t0015g0341 a0001c0001t0022g0210 |
2 | 3 | 0.6667 | 1830 | c.438 others(1847): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311748 | T | TTCCCAGT others(1823): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0311 | 1 | 20 | 0.0500 | 1830 | c.327 others(1847): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120167 | T | TGGAGGAG others(1824): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0226 | 1 | 181 | 0.0055 | 1831 | c.353 others(1848): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120167 | T | TGGAGGAG others(1824): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0004 | a0003c0004t0019 | a0003c0004t0019g0348 | 1 | 181 | 0.0055 | 1831 | c.353 others(1848): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120167 | T | TGGAGGAG others(1824): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02080.hp1 others(18): Show |
a0002a0007 | a0002c0003a0007c0011 | a0002c0003t0003a0002c0003t0004a0002c0003t0009others(3): Show | a0002c0003t0003g0001 a0002c0003t0003g0126 a0002c0003t0003g0173 others(17): Show |
21 | 201 | 0.1045 | 1831 | c.353 others(1848): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120167 | T | TGGAGGAG others(1824): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0212 | 1 | 181 | 0.0055 | 1831 | c.353 others(1848): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811271 | T | TTCCTTCC others(1824): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0147 | 1 | 149 | 0.0067 | 1831 | c.773 others(1846): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(1824): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0182 | 1 | 9 | 0.1111 | 1831 | c.*39 others(1842): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(1824): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 |
3 | 279 | 0.0108 | 1831 | c.*40 others(1848): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289823 | C | CCCCGTGT others(1825): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 285 | 0.0035 | 1832 | c.*37 others(1843): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2567 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(1825): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 57 | 0.0175 | 1832 | c.409 others(1851): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802944 | G | GGGGGCCC others(1825): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 2 | 380 | 0.0053 | 1832 | c.666 others(1847): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86526779 | T | TAGAAATG others(1825): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 142 | 0.0070 | 1832 | c.640 others(1851): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642849 | G | GAGGGTCA others(1825): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 335 | 0.0030 | 1832 | c.*17 others(1843): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1383 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642849 | G | GAGGGTCA others(1825): Show |
downstream_gene_variant | MODIFIER | NA19075.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0010 | 1 | 403 | 0.0025 | 1832 | c.*22 others(1843): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2144 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642849 | G | GAGGGTCA others(1825): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 NA18939.hp1 NA18939.hp2 others(4): Show |
a0001a0004a0009others(1): Show | a0001c0002a0004c0007a0009c0012others(1): Show | a0001c0002t0001a0004c0007t0001a0009c0012t0001others(1): Show | a0001c0002t0001g0010 a0004c0007t0001g0010 a0009c0012t0001g0010 others(1): Show |
7 | 409 | 0.0171 | 1832 | c.*22 others(1843): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2144 | chr11 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55522494 | T | TCCCTCCA others(1825): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0052 a0001c0001t0007g0002 a0001c0001t0007g0024 |
3 | 72 | 0.0417 | 1832 | c.*40 others(1851): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364393 | C | CCTTACAT others(1825): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 110 | 0.0091 | 1832 | c.129 others(1851): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1825): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0107 | a0001c0107t0001 | a0001c0107t0001g0137 | 1 | 34 | 0.0294 | 1832 | c.299 others(1847): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639299 | C | CGGGGGGT others(1825): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0146 | 1 | 224 | 0.0045 | 1832 | c.719 others(1849): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(1825): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 65 | 0.0154 | 1832 | c.167 others(1847): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar |