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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF3B_chr7_2349827_2385745 | 2377659 | A | AGGAGGAA others(697): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0262 | 1 | 139 | 0.0072 | 704 | c.215 others(721): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377693 | G | GCCGTGTT others(697): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 286 | 0.0035 | 704 | c.215 others(721): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378012 | T | TGTGTTCT others(697): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 217 | 0.0046 | 704 | c.215 others(721): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635661 | A | AAGTATGG others(697): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01433.hp1 others(15): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0058 a0001c0001t0002g0215 others(15): Show |
18 | 300 | 0.0600 | 704 | c.59- others(719): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(697): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0191 | 1 | 4 | 0.2500 | 704 | c.126 others(721): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(697): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 12 | 0.0833 | 704 | c.*28 others(715): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(697): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 95 | 0.0105 | 704 | c.-97 others(721): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(697): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 95 | 0.0105 | 704 | c.-97 others(721): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(697): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 95 | 0.0105 | 704 | c.-97 others(721): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(697): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0074 | 1 | 217 | 0.0046 | 704 | c.174 others(723): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471488 | A | ATATATAA others(697): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 176 | 0.0057 | 704 | c.125 others(721): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507402 | G | GGGCGGGT others(697): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 221 | 0.0045 | 704 | c.624 others(721): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMCD1_chr3_8496823_8579668 | 8559422 | C | CCACAATC others(697): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02523.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0021 | a0001c0001t0001g0086 a0001c0001t0001g0186 a0001c0001t0001g0189 others(4): Show |
7 | 312 | 0.0224 | 704 | c.724 others(721): Show |
LMCD1 | ENSG00000071282.12 | transcript | ENST00000157600.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMCD1_chr3_8496823_8579668 | 8560078 | A | AATTAGAA others(697): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0247 | 1 | 211 | 0.0047 | 704 | c.724 others(721): Show |
LMCD1 | ENSG00000071282.12 | transcript | ENST00000157600.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMCD1_chr3_8496823_8579668 | 8560078 | A | AATTAGAA others(697): Show |
intron_variant | MODIFIER | NA18965.hp1 NA18969.hp1 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0028g0176 |
3 | 213 | 0.0141 | 704 | c.724 others(721): Show |
LMCD1 | ENSG00000071282.12 | transcript | ENST00000157600.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMCD1_chr3_8496823_8579668 | 8560078 | A | AATTAGAA others(697): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02055.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 others(25): Show |
28 | 238 | 0.1176 | 704 | c.724 others(721): Show |
LMCD1 | ENSG00000071282.12 | transcript | ENST00000157600.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(697): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0244 | 1 | 215 | 0.0047 | 704 | c.129 others(721): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(697): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0010 | a0010c0066 | a0010c0066t0004 | a0010c0066t0004g0116 | 1 | 40 | 0.0250 | 704 | c.197 others(723): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(697): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0014 | a0014c0022 | a0014c0022t0003 | a0014c0022t0003g0316 | 1 | 40 | 0.0250 | 704 | c.197 others(723): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(697): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 |
a0014 | a0014c0022 | a0014c0022t0001 | a0014c0022t0001g0105 a0014c0022t0001g0106 |
2 | 41 | 0.0488 | 704 | c.197 others(723): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(697): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 82 | 0.0122 | 704 | c.*23 others(715): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(697): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 HG03491.hp1 HG03492.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0019 a0002c0002t0016g0072 |
4 | 85 | 0.0471 | 704 | c.*23 others(715): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(697): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 82 | 0.0122 | 704 | c.*23 others(715): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(697): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 NA18969.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0083 a0001c0001t0008g0100 |
3 | 84 | 0.0357 | 704 | c.*23 others(715): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(697): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 8 | 0.1250 | 704 | c.293 others(723): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203770 | T | TATATAGT others(697): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19030.hp2 |
a0006 | a0006c0016 | a0006c0016t0008 | a0006c0016t0008g0028 a0006c0016t0008g0138 |
2 | 168 | 0.0119 | 704 | c.166 others(723): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | chr3 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149309 | G | GCTCACAC others(697): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 224 | 0.0045 | 704 | c.901 others(719): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149309 | G | GCTCACAC others(697): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 224 | 0.0045 | 704 | c.901 others(719): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149432 | C | CGCCGCCT others(697): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 271 | 0.0037 | 704 | c.901 others(719): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150453 | C | CACCACAC others(697): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 235 | 0.0043 | 704 | c.902 others(719): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150712 | G | GCTCACAC others(697): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 217 | 0.0046 | 704 | c.902 others(719): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(697): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 190 | 0.0053 | 704 | c.902 others(719): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(697): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 2 | 0.5000 | 704 | c.730 others(721): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(697): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 others(1): Show |
4 | 5 | 0.8000 | 704 | c.730 others(721): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(697): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0161 | 1 | 2 | 0.5000 | 704 | c.730 others(721): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(697): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 2 | 0.5000 | 704 | c.730 others(721): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950464 | T | TACTGGCA others(697): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 | 1 | 329 | 0.0030 | 704 | c.-29 others(715): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2775 | chr16 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(697): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 182 | 0.0055 | 704 | c.-26 others(715): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(697): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 704 | c.-26 others(715): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PGBD2_chr1_248901235_248924146 | 248911643 | A | AGACGGGG others(697): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0145 |
2 | 328 | 0.0061 | 704 | c.-47 others(721): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TATATATA others(697): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0009 | 1 | 25 | 0.0400 | 704 | c.862 others(721): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 100 | 0.0100 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0199 | 1 | 100 | 0.0100 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0038 a0001c0001t0006g0041 a0001c0001t0007g0039 others(2): Show |
5 | 104 | 0.0481 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 3 | 102 | 0.0294 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01168.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0005a0002c0004t0003 | a0001c0001t0003g0011 a0001c0001t0003g0027 a0001c0001t0003g0111 others(13): Show |
18 | 117 | 0.1538 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 | 1 | 100 | 0.0100 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 100 | 0.0100 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0163 | 1 | 100 | 0.0100 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(697): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 100 | 0.0100 | 704 | c.907 others(721): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |