| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(699): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 95 | 0.0105 | 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 | a0001c0001t0001g0070 | 1 | 95 | 0.0105 | 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 | a0001c0001t0001g0152 | 1 | 95 | 0.0105 | 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 | 95 | 0.0105 | 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 | a0001c0002t0002g0053 | 1 | 197 | 0.0051 | 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 | a0003c0004t0002g0090 | 1 | 150 | 0.0067 | 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 | a0001c0008t0014 | a0001c0008t0014g0371 | 1 | 212 | 0.0047 | 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 | a0001c0140 | a0001c0140t0001 | a0001c0140t0001g0055 | 1 | 89 | 0.0112 | 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 | a0001c0154 | a0001c0154t0001 | a0001c0154t0001g0066 | 1 | 89 | 0.0112 | 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 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0024 | 3 | 91 | 0.0330 | 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 | 204 | 0.0049 | 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 | 282 | 0.0035 | 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 | 355 | 0.0028 | 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 |
a0003a0014 | a0003c0003a0014c0017 | a0003c0003t0004a0014c0017t0004 | a0003c0003t0004g0024 a0014c0017t0004g0081 |
2 | 355 | 0.0056 | 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 | a0003 | a0003c0051 | a0003c0051t0001 | a0003c0051t0001g0008 | 1 | 8 | 0.1250 | 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 | a0001c0013t0009g0243 | 1 | 166 | 0.0060 | 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 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(2): Show |
5 | 84 | 0.0595 | 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 | a0001c0001t0001g0060 | 1 | 80 | 0.0125 | 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 | a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0148 others(2): Show |
5 | 10 | 0.5000 | 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 | a0002c0002t0002g0003 a0002c0002t0043g0074 a0002c0002t0056g0062 |
3 | 84 | 0.0357 | 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 | 83 | 0.0241 | 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 | a0001c0001t0002g0213 | 1 | 82 | 0.0122 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0115 others(2): Show |
8 | 89 | 0.0899 | 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 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0001 | a0001c0001t0001g0001 a0004c0010t0001g0117 |
2 | 83 | 0.0241 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0132 a0001c0001t0008g0015 others(3): Show |
10 | 91 | 0.1099 | 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 | a0001c0001t0009g0018 a0001c0001t0009g0030 a0001c0001t0009g0053 others(2): Show |
7 | 88 | 0.0795 | 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 | a0001c0001t0044g0084 | 1 | 82 | 0.0122 | 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 | 82 | 0.0122 | 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 | 8 | 0.1250 | 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 | 4 | 0.2500 | 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 | a0001c0001t0001g0250 | 1 | 62 | 0.0161 | 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 | a0001c0001t0001g0194 | 1 | 190 | 0.0053 | 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 |
a0004a0021 | a0004c0067a0021c0061 | a0004c0067t0009a0021c0061t0002 | a0004c0067t0009g0182 a0021c0061t0002g0051 |
2 | 9 | 0.2222 | 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 | a0001c0001t0017g0205 | 1 | 206 | 0.0049 | 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 | a0001c0001t0003g0019 | 1 | 158 | 0.0063 | 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 | a0001c0001t0001g0276 | 1 | 100 | 0.0100 | 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 | a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0102 others(12): Show |
15 | 114 | 0.1316 | 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 | a0001c0001t0001g0034 a0001c0001t0001g0204 a0001c0001t0001g0241 others(41): Show |
55 | 154 | 0.3571 | 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 | a0001c0001t0004g0216 | 1 | 100 | 0.0100 | 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 | 210 | 0.0048 | 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 | a0001c0001t0002g0110 a0001c0001t0007g0111 a0001c0001t0010g0114 others(1): Show |
4 | 22 | 0.1818 | 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 | a0002c0002t0002g0077 | 1 | 170 | 0.0059 | 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 | a0001c0001t0003g0265 | 1 | 129 | 0.0078 | 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 | 94 | 0.0106 | 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 | a0001c0001t0002g0101 a0001c0001t0002g0143 a0001c0002t0001g0016 |
3 | 25 | 0.1200 | 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 | a0001c0002t0009g0154 | 1 | 23 | 0.0435 | 706 | c.193 others(725): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(699): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0031 | 1 | 192 | 0.0052 | 706 | c.89- others(719): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 3976675 | C | CCACGCAG others(699): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0035 | a0035c0073 | a0035c0073t0001 | a0035c0073t0001g0016 | 1 | 62 | 0.0161 | 706 | c.199 others(725): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
| SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(699): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0020 | 1 | 9 | 0.1111 | 706 | c.914 others(723): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GTGATTGT others(699): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0074 | 1 | 9 | 0.1111 | 706 | c.860 others(723): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |