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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC2_chr1_31408213_31439678 | 31431985 | T | TAGGGTGG others(38): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 | 1 | 376 | 0.0027 | 45 | c.101 others(62): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432084 | T | TAGGGTGG others(38): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0146 | 1 | 376 | 0.0027 | 45 | c.101 others(62): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ATAGGGTG others(38): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0271 | 1 | 376 | 0.0027 | 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 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0143 | 1 | 464 | 0.0022 | 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 | a0002c0003t0002g0108 | 1 | 410 | 0.0024 | 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 | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0089others(29): Show | 36 | 410 | 0.0878 | 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 | a0001c0004t0006g0385a0001c0004t0006g0395 | 2 | 432 | 0.0046 | 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 | a0001c0001t0002g0012a0001c0001t0002g0016a0001c0001t0002g0029others(37): Show | 62 | 445 | 0.1393 | 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 | a0001c0001t0001g0008a0001c0001t0001g0135a0001c0001t0018g0008 | 4 | 445 | 0.0090 | 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 | a0001c0001t0001g0021a0001c0001t0003g0155a0001c0001t0005g0045 | 5 | 445 | 0.0112 | 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 | a0001c0001t0010g0143a0001c0001t0010g0153 | 2 | 445 | 0.0045 | 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 | a0001c0001t0002g0111 | 1 | 445 | 0.0023 | 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 | a0002c0002t0001g0004 | 1 | 445 | 0.0023 | 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 | a0001c0001t0002g0180 | 1 | 445 | 0.0023 | 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(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0002others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0011a0001c0001t0002g0012others(11): Show | 16 | 445 | 0.0360 | 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 | a0001c0001t0002g0016 | 3 | 445 | 0.0067 | 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 | a0002c0002t0001g0065 | 1 | 445 | 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 | a0002c0002t0004g0085 | 1 | 445 | 0.0023 | 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 | a0001c0001t0002g0011 | 1 | 445 | 0.0023 | 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 | a0001c0001t0001g0021a0001c0001t0001g0147a0001c0001t0002g0111others(3): Show | 10 | 445 | 0.0225 | 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 | a0001c0001t0001g0042a0001c0001t0004g0042a0002c0002t0001g0004others(23): Show | 37 | 445 | 0.0832 | 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 | a0002c0002t0001g0041 | 1 | 445 | 0.0023 | 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 | a0001c0001t0001g0008 | 1 | 445 | 0.0023 | 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 | a0002c0002t0001g0074 | 1 | 445 | 0.0023 | 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 | a0001c0001t0002g0032 | 1 | 445 | 0.0023 | 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 | a0002c0002t0001g0065 | 1 | 445 | 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 | a0001c0001t0002g0002a0002c0002t0001g0009a0002c0002t0001g0068 | 3 | 445 | 0.0067 | 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 | a0001c0001t0002g0016 | 1 | 445 | 0.0023 | 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 | a0001c0001t0002g0016a0001c0001t0003g0017 | 2 | 445 | 0.0045 | 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 | a0001c0001t0003g0012 | 1 | 445 | 0.0023 | 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 | a0001c0001t0001g0008a0001c0001t0001g0109a0001c0001t0001g0134others(4): Show | 15 | 445 | 0.0337 | 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 | a0001c0001t0003g0152 | 1 | 445 | 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 | a0001c0005t0002g0010a0001c0005t0002g0188 | 2 | 445 | 0.0045 | 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 | a0001c0001t0017g0194 | 1 | 445 | 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 | a0001c0001t0002g0052 | 1 | 240 | 0.0042 | 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 | a0001c0001t0001g0298a0001c0002t0002g0075 | 2 | 344 | 0.0058 | 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 | 328 | 0.0031 | 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 | 318 | 0.0031 | 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 | 338 | 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 | a0002c0002t0001g0033 | 1 | 422 | 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 | a0001c0011t0001g0030a0001c0011t0001g0031a0011c0018t0001g0048 | 3 | 322 | 0.0093 | 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 | 188 | 0.0053 | 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 | a0001c0003t0001g0069 | 1 | 302 | 0.0033 | 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 | a0001c0001t0001g0083a0001c0001t0003g0097a0001c0001t0004g0013 | 3 | 290 | 0.0103 | 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 | a0001c0026a0001c0028a0001c0181others(3): Show | a0001c0026t0091a0001c0026t0092a0001c0028t0034others(4): Show | a0001c0026t0091g0304a0001c0026t0092g0305a0001c0028t0034g0306others(4): Show | 7 | 380 | 0.0184 | 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 | a0001c0115 | a0001c0115t0001 | a0001c0115t0001g0314 | 1 | 380 | 0.0026 | 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 | a0040 | a0040c0062 | a0040c0062t0002 | a0040c0062t0002g0246 | 1 | 256 | 0.0039 | 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 | a0009 | a0009c0075 | a0009c0075t0003 | a0009c0075t0003g0198 | 1 | 256 | 0.0039 | 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 | 218 | 0.0046 | 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 | a0001c0001t0001g0125 | 1 | 242 | 0.0041 | 45 | c.-15 others(62): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar |