| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(657): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18972.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0062a0001c0001t0002g0202a0001c0001t0003g0148 | 3 | 406 | 0.0074 | 664 | c.156 others(679): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(657): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 406 | 0.0025 | 664 | c.156 others(679): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(657): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0014 | 1 | 272 | 0.0037 | 664 | c.925 others(679): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(657): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01106.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0308a0001c0001t0004g0020 | 4 | 448 | 0.0089 | 664 | c.51+ others(679): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTTATAT others(657): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 94 | 0.0106 | 664 | c.-2+ others(681): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1278600 | T | TGCTTCAA others(657): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0104 | 1 | 159 | 0.0063 | 664 | c.-27 others(681): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619485 | C | CTGCCCCC others(657): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0001g0095others(2): Show | 5 | 250 | 0.0200 | 664 | c.-10 others(683): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DUS3L_chr19_5780140_5796163 | 5787204 | G | GGTGGGAG others(657): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 364 | 0.0028 | 664 | c.127 others(679): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 7/12 | chr19 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137716219 | T | TTGGTGTC others(657): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057 | 1 | 170 | 0.0059 | 664 | c.86- others(677): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137327999 | T | TAAAAACA others(657): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 82 | 0.0122 | 664 | c.199 others(683): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137327999 | T | TAAAAACA others(657): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(18): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0057a0001c0001t0001g0060others(18): Show | 21 | 82 | 0.2561 | 664 | c.199 others(683): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137327999 | T | TAAAAACA others(657): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 82 | 0.0122 | 664 | c.199 others(683): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71435366 | G | GGAAGGGA others(657): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0061 | a0001c0001t0047g0068a0001c0001t0061g0077 | 2 | 96 | 0.0208 | 664 | c.-16 others(685): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
| GLIS1_chr1_53501239_53744164 | 53525463 | A | AGGCTGGG others(657): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 236 | 0.0042 | 664 | c.148 others(681): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 5/10 | chr1 | TogoVar | ||||||
| GPIHBP1_chr8_143208218_143222170 | 143218331 | A | ATCCCCAA others(657): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 664 | c.*28 others(675): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1162 | chr8 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(657): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0149 | 1 | 208 | 0.0048 | 664 | c.-97 others(681): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(657): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 2 | 323 | 0.0062 | 664 | c.-21 others(675): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAA others(657): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19062.hp2 |
a0002 | a0002c0003a0002c0008 | a0002c0003t0001a0002c0008t0007 | a0002c0003t0001g0128a0002c0008t0007g0241 | 2 | 308 | 0.0065 | 664 | c.127 others(683): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(657): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0197 | 1 | 282 | 0.0036 | 664 | c.258 others(681): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406062 | T | TCTTCCTC others(657): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0215 | a0001c0001t0215g0103 | 1 | 276 | 0.0036 | 664 | c.*77 others(673): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 771 | chr2 | TogoVar | |||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(657): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0042 | 1 | 386 | 0.0026 | 664 | c.-46 others(675): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(657): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065a0001c0001t0004g0066 | 2 | 286 | 0.0070 | 664 | c.*52 others(675): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(657): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 286 | 0.0035 | 664 | c.*52 others(675): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(657): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043a0001c0001t0004g0072 | 2 | 286 | 0.0070 | 664 | c.*52 others(675): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(657): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 664 | c.-27 others(675): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(657): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 |
a0001a0003 | a0001c0028a0003c0025 | a0001c0028t0004a0003c0025t0004 | a0001c0028t0004g0047a0003c0025t0004g0099 | 2 | 262 | 0.0076 | 664 | c.212 others(683): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LINGO2_chr9_27932617_29218601 | 28189380 | G | GAAGGAAG others(657): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0012 | 1 | 62 | 0.0161 | 664 | c.-36 others(685): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(657): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 664 | c.-30 others(675): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364366 | C | CTTACACC others(657): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 290 | 0.0035 | 664 | c.129 others(683): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364447 | A | ACCCACAC others(657): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0052 | 1 | 290 | 0.0035 | 664 | c.129 others(681): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(657): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0337 | 1 | 448 | 0.0022 | 664 | c.*56 others(675): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(657): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0197 | 1 | 448 | 0.0022 | 664 | c.*56 others(675): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(657): Show |
downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 448 | 0.0022 | 664 | c.*56 others(675): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(657): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0121 | 1 | 140 | 0.0071 | 664 | c.114 others(683): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(657): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0253 | 1 | 308 | 0.0033 | 664 | c.730 others(681): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(657): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0254 | 1 | 308 | 0.0033 | 664 | c.730 others(681): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCTCCTC others(657): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0110 | 1 | 326 | 0.0031 | 664 | c.433 others(681): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56739350 | C | CCCCCCCC others(657): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0245 | 1 | 378 | 0.0027 | 664 | c.-14 others(681): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(657): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 664 | c.-26 others(675): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(657): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 664 | c.-26 others(675): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(657): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 436 | 0.0046 | 664 | c.-26 others(675): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PLCB1_chr20_8127266_8889900 | 8662119 | T | TAATTATA others(657): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0089 | 1 | 106 | 0.0094 | 664 | c.862 others(681): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2106871 | C | CCCTCCGG others(657): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0265 | 1 | 286 | 0.0035 | 664 | c.335 others(683): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(657): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 133 | 0.0075 | 664 | c.351 others(683): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1164894 | G | GAGGAGGA others(657): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 203 | 0.0049 | 664 | c.-12 others(683): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1164894 | G | GAGGAGGA others(657): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01069.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0034others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0034t0001others(1): Show | a0001c0001t0001g0149a0001c0001t0001g0151a0001c0001t0001g0166others(3): Show | 6 | 203 | 0.0296 | 664 | c.-12 others(683): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(657): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0098 | 1 | 324 | 0.0031 | 664 | c.115 others(681): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(657): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0018 | 1 | 150 | 0.0067 | 664 | c.77- others(681): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(657): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 158 | 0.0063 | 664 | c.22+ others(681): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHISA5_chr3_48462876_48509174 | 48499782 | T | TGAACCTG others(657): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 290 | 0.0035 | 664 | c.233 others(681): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar |