| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EHMT1_chr9_137614005_137841127 | 137716160 | G | GTTGGTGT others(699): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 170 | 0.0059 | 706 | c.86- others(719): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(699): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0010 | a0010c0003 | a0010c0003t0003 | a0010c0003t0003g0026 | 1 | 174 | 0.0058 | 706 | c.193 others(725): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(699): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 230 | 0.0044 | 706 | c.126 others(723): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(699): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 230 | 0.0044 | 706 | c.126 others(723): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(699): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 208 | 0.0048 | 706 | c.-97 others(723): 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(699): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 208 | 0.0048 | 706 | c.-97 others(723): 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(699): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 208 | 0.0048 | 706 | c.-97 others(723): 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(699): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0075 | 1 | 208 | 0.0048 | 706 | c.-97 others(723): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(699): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 282 | 0.0036 | 706 | c.737 others(725): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 323558 | G | GTGTGTGT others(699): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0096 | 1 | 155 | 0.0065 | 706 | c.-47 others(717): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4763 | chrX | TogoVar | ||||||
| HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(699): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0012 | a0001c0008t0012g0371 | 1 | 408 | 0.0025 | 706 | c.633 others(723): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| HRNR_chr1_152207076_152229193 | 152217570 | C | CCTGTTGG others(699): Show |
frameshift_variant | HIGH | HG03453.hp1 | a0001 | a0001c0165 | a0001c0165t0001 | a0001c0165t0001g0056 | 1 | 418 | 0.0024 | 706 | c.405 others(715): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4134/9629 | 4058/8553 | 1353/2850 | chr1 | TogoVar | ||
| HRNR_chr1_152207076_152229193 | 152217570 | C | CCTGTTGG others(699): Show |
frameshift_variant | HIGH | HG02080.hp1 | a0001 | a0001c0185 | a0001c0185t0001 | a0001c0185t0001g0073 | 1 | 418 | 0.0024 | 706 | c.405 others(715): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4134/9629 | 4058/8553 | 1353/2850 | chr1 | TogoVar | ||
| HRNR_chr1_152207076_152229193 | 152217570 | C | CCTGTTGG others(699): Show |
frameshift_variant | HIGH | NA18988.hp2 NA19082.hp2 NA19084.hp1 |
a0001 | a0001c0031a0001c0137 | a0001c0031t0001a0001c0137t0001 | a0001c0031t0001g0036a0001c0137t0001g0148 | 3 | 418 | 0.0072 | 706 | c.405 others(715): Show |
p.Ala others(6): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4134/9629 | 4058/8553 | 1353/2850 | chr1 | TogoVar | ||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(699): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 323 | 0.0031 | 706 | c.-36 others(717): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
| KIF1A_chr2_240708767_240825219 | 240780830 | C | CCACACAC others(699): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0037 | a0001c0004t0037g0004 | 1 | 330 | 0.0030 | 706 | c.882 others(723): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997333 | T | TAGGGTCG others(699): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0300 | 1 | 375 | 0.0027 | 706 | c.-21 others(717): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 337 | chr6 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409037 | C | CCTCCTCT others(699): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp1 |
a0003a0010 | a0003c0003a0010c0017 | a0003c0003t0004a0010c0017t0004 | a0003c0003t0004g0024a0010c0017t0004g0082 | 2 | 370 | 0.0054 | 706 | c.-27 others(717): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2703 | chr12 | TogoVar | ||||||
| LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(699): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0051 | a0004c0051t0001 | a0004c0051t0001g0008 | 1 | 88 | 0.0114 | 706 | c.507 others(725): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(699): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0245 | 1 | 308 | 0.0033 | 706 | c.*66 others(717): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(699): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18966.hp2 NA18969.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(2): Show | 5 | 260 | 0.0192 | 706 | c.125 others(723): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(699): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 260 | 0.0039 | 706 | c.125 others(723): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(699): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0065 | a0001c0001t0005g0141a0001c0001t0005g0142a0001c0001t0005g0144others(2): Show | 5 | 296 | 0.0169 | 706 | c.368 others(723): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 NA18964.hp2 NA18966.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0043a0002c0002t0056 | a0002c0002t0002g0003a0002c0002t0043g0075a0002c0002t0056g0063 | 3 | 418 | 0.0072 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 2 | 418 | 0.0048 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 418 | 0.0024 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01074.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0017 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0116others(2): Show | 8 | 418 | 0.0191 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG03942.hp1 |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0001a0005c0010t0001g0118 | 2 | 418 | 0.0048 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02615.hp2 HG02735.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0133a0001c0001t0008g0015others(3): Show | 10 | 418 | 0.0239 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028a0001c0001t0058 | a0001c0001t0009g0018a0001c0001t0009g0030a0001c0001t0009g0053others(2): Show | 7 | 418 | 0.0168 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0085 | 1 | 418 | 0.0024 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(699): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 706 | c.*23 others(717): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(699): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 272 | 0.0037 | 706 | c.250 others(721): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(699): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0129 | 1 | 140 | 0.0071 | 706 | c.114 others(725): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158667550 | G | GCCTTACC others(699): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 378 | 0.0027 | 706 | c.148 others(725): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150747 | C | CGCCGCCT others(699): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 294 | 0.0034 | 706 | c.902 others(721): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(699): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18967.hp2 |
a0012a0022 | a0012c0067a0022c0061 | a0012c0067t0009a0022c0061t0002 | a0012c0067t0009g0183a0022c0061t0002g0049 | 2 | 324 | 0.0062 | 706 | c.140 others(723): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(699): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0267 | 1 | 326 | 0.0031 | 706 | c.433 others(723): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45909848 | A | ACCCCCCC others(699): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 292 | 0.0034 | 706 | c.471 others(721): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(699): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 396 | 0.0025 | 706 | c.907 others(723): 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(699): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02622.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0101a0001c0001t0006g0102a0001c0001t0006g0103others(12): Show | 15 | 396 | 0.0379 | 706 | c.907 others(723): 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(699): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0206a0001c0001t0001g0243others(41): Show | 55 | 396 | 0.1389 | 706 | c.907 others(723): 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(699): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 396 | 0.0025 | 706 | c.907 others(723): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(699): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 286 | 0.0035 | 706 | c.335 others(725): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(699): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0002g0109a0001c0001t0007g0110a0001c0001t0010g0113others(1): Show | 4 | 220 | 0.0182 | 706 | c.24+ others(723): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RIMS2_chr8_103495610_104259430 | 103822202 | T | TCAAGTAG others(699): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 172 | 0.0058 | 706 | c.830 others(725): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(699): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 308 | 0.0033 | 706 | c.-75 others(725): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 242867 | C | CCCTTCCT others(699): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 133 | 0.0075 | 706 | c.613 others(723): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| SAMD12_chr8_118372984_118626963 | 118469556 | A | AATATATA others(699): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19081.hp2 NA19084.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0101a0001c0001t0002g0143a0001c0002t0001g0010 | 3 | 188 | 0.0160 | 706 | c.193 others(725): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
| SAMD12_chr8_118372984_118626963 | 118469556 | A | AATATATA others(699): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0144 | 1 | 188 | 0.0053 | 706 | c.193 others(725): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar |