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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(38): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0270 | 1 | 325 | 0.0031 | 45 | c.101 others(62): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERPINA5_chr14_94576426_94598118 | 94591549 | G | GTTCTATT others(38): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 93 | 0.0108 | 45 | c.103 others(62): Show |
SERPINA5 | ENSG00000188488.14 | transcript | ENST00000329597.12 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERPINB5_chr18_63471958_63510085 | 63507526 | C | CATATATA others(38): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0118 | 1 | 330 | 0.0030 | 45 | c.*38 others(56): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 2442 | chr18 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63507526 | C | CATATATA others(38): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01106.hp2 others(33): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0010others(4): Show | a0002c0003t0002a0002c0003t0007a0002c0003t0012others(6): Show | a0002c0003t0002g0006 a0002c0003t0002g0009 a0002c0003t0002g0091 others(29): Show |
36 | 365 | 0.0986 | 45 | c.*38 others(56): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 2442 | chr18 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63783219 | A | AAAGAAAG others(38): Show |
intron_variant | MODIFIER | HG02965.hp2 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0008 a0001c0004t0006g0302 |
2 | 429 | 0.0047 | 45 | c.168 others(60): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | chr18 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1738865 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(59): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0013 others(28): Show |
62 | 376 | 0.1649 | 45 | c.-40 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 4005 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1738865 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 NA19003.hp2 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0005 a0001c0001t0001g0089 a0001c0001t0018g0005 |
4 | 318 | 0.0126 | 45 | c.-40 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 4005 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1738932 | G | GCAGGACA others(38): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0017 a0001c0001t0003g0115 a0001c0001t0005g0039 |
5 | 444 | 0.0113 | 45 | c.-39 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3938 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739024 | A | AGGACAGT others(38): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 2 | 433 | 0.0046 | 45 | c.-38 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3846 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739225 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 294 | 0.0034 | 45 | c.-36 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3645 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739291 | C | CGCAGGAC others(38): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 319 | 0.0031 | 45 | c.-36 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3579 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739336 | A | AGCCGGAC others(38): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 356 | 0.0028 | 45 | c.-35 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3534 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739360 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(10): Show |
15 | 408 | 0.0368 | 45 | c.-35 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3510 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739538 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 NA18994.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 3 | 436 | 0.0069 | 45 | c.-33 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3332 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739583 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 444 | 0.0023 | 45 | c.-33 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3287 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739607 | A | AGGACAGT others(38): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0067 | 1 | 402 | 0.0025 | 45 | c.-33 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3263 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739673 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 250 | 0.0040 | 45 | c.-32 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3197 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739718 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0002g0077 a0001c0001t0002g0096 others(2): Show |
10 | 396 | 0.0253 | 45 | c.-31 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3152 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739718 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01175.hp1 others(34): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0034 a0001c0001t0004g0034 a0002c0002t0001g0002 others(15): Show |
37 | 423 | 0.0875 | 45 | c.-31 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3152 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739762 | G | GAGCCTGA others(38): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 386 | 0.0026 | 45 | c.-31 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3108 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739763 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 421 | 0.0024 | 45 | c.-31 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3107 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739808 | G | GGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 300 | 0.0033 | 45 | c.-31 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3062 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739874 | A | AGCAGGAC others(38): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 407 | 0.0025 | 45 | c.-30 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2996 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1739952 | C | CAGGGAGT others(38): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 434 | 0.0023 | 45 | c.-29 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2918 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740168 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02040.hp2 HG02155.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0003 a0002c0002t0001g0002 a0002c0002t0001g0056 |
3 | 407 | 0.0074 | 45 | c.-27 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2702 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740255 | A | AGGAGCCT others(38): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 417 | 0.0024 | 45 | c.-26 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2615 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740423 | G | GTGAGGGT others(38): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013 a0001c0001t0003g0014 |
2 | 355 | 0.0056 | 45 | c.-24 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2447 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740541 | G | GAGTGAGG others(38): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 327 | 0.0031 | 45 | c.-23 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2329 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740798 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG02071.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0004a0005c0007t0001 | a0001c0001t0001g0005 a0001c0001t0001g0088 a0001c0001t0001g0089 others(3): Show |
15 | 440 | 0.0341 | 45 | c.-21 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2072 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740957 | A | AGGACAGT others(38): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 441 | 0.0023 | 45 | c.-19 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1913 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741293 | A | AGCCTGAT others(38): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 NA19087.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0010 | 2 | 432 | 0.0046 | 45 | c.-16 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1577 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741477 | T | TGATGCAG others(38): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0145 | 1 | 443 | 0.0023 | 45 | c.-14 others(56): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1393 | chr17 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26348748 | A | AGGAAGGG others(38): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 114 | 0.0088 | 45 | c.240 others(62): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0293 a0001c0002t0002g0091 |
2 | 13 | 0.1538 | 45 | c.495 others(60): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52945136 | T | TAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 118 | 0.0085 | 45 | c.124 others(62): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131783792 | T | TTATTATA others(38): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 33 | 0.0303 | 45 | c.240 others(64): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24900408 | T | TTTCTTTC others(38): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0335 | 1 | 333 | 0.0030 | 45 | c.261 others(64): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | chr22 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2355432 | G | GGTTGGGG others(38): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 420 | 0.0024 | 45 | c.134 others(62): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | chr17 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80533272 | T | TCCTCCTC others(38): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02818.hp2 NA19043.hp1 |
a0001a0011 | a0001c0011a0011c0018 | a0001c0011t0001a0011c0018t0001 | a0001c0011t0001g0030 a0001c0011t0001g0031 a0011c0018t0001g0047 |
3 | 161 | 0.0186 | 45 | c.-50 others(56): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4629 | chr10 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89182522 | A | AAAAATAA others(38): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0058 | 1 | 41 | 0.0244 | 45 | c.-40 others(56): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 3705 | chr9 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | G | GAAAGGAA others(38): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0111 | 1 | 125 | 0.0080 | 45 | c.118 others(64): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48481441 | A | AAAAATAA others(38): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19012.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0003g0100 a0001c0001t0004g0018 |
3 | 207 | 0.0145 | 45 | c.234 others(62): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44248316 | T | TCAAGCAG others(38): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02717.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0023a0001c0001t0033a0001c0001t0036others(4): Show | a0001c0001t0023g0030 a0001c0001t0033g0262 a0001c0001t0036g0012 others(4): Show |
7 | 378 | 0.0185 | 45 | c.*13 others(56): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 5/5 | 1368 | chr22 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44261077 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0314 | 1 | 105 | 0.0095 | 45 | c.600 others(64): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(38): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0020 | a0020c0060 | a0020c0060t0002 | a0020c0060t0002g0244 | 1 | 193 | 0.0052 | 45 | c.165 others(62): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9816580 | C | CCTGCTGC others(38): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0011 | a0011c0071 | a0011c0071t0003 | a0011c0071t0003g0202 | 1 | 60 | 0.0167 | 45 | c.165 others(64): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(38): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0036 | a0001c0036t0025 | a0001c0036t0025g0184 | 1 | 168 | 0.0060 | 45 | c.323 others(64): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 410743 | C | CGGGGGGG others(38): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 240 | 0.0042 | 45 | c.-15 others(62): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 411270 | C | CGGGGGGG others(38): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0067 | 1 | 128 | 0.0078 | 45 | c.-15 others(64): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 412323 | C | CGGGGAGG others(38): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 231 | 0.0043 | 45 | c.-15 others(64): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar |