| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(438): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0329 | 1 | 382 | 0.0026 | 445 | c.205 others(464): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
| KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(438): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 382 | 0.0026 | 445 | c.205 others(464): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
| KDM5B_chr1_202719495_202813421 | 202789600 | A | AAGGGGAA others(438): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 382 | 0.0026 | 445 | c.205 others(464): Show |
KDM5B | ENSG00000117139.18 | transcript | ENST00000367265.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 168035444 | A | AGGCGGGA others(438): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0128 | 1 | 375 | 0.0027 | 445 | c.317 others(462): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471488 | A | ATATATAA others(438): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 260 | 0.0039 | 445 | c.125 others(462): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 857646 | A | ACGGGACG others(438): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 294 | 0.0034 | 445 | c.153 others(464): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(438): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 | 1 | 294 | 0.0034 | 445 | c.153 others(464): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857692 | T | TCGGGACG others(438): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 294 | 0.0034 | 445 | c.153 others(464): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(438): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 294 | 0.0034 | 445 | c.153 others(464): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(438): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 294 | 0.0034 | 445 | c.153 others(464): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 858379 | G | GCAGTGGT others(438): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 294 | 0.0034 | 445 | c.153 others(464): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(438): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 390 | 0.0026 | 445 | c.112 others(462): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(438): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 364 | 0.0028 | 445 | c.*18 others(456): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(438): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02056.hp1 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 364 | 0.0082 | 445 | c.*18 others(456): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
| MSR1_chr8_16102881_16197651 | 16189595 | A | ATATATAT others(438): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 330 | 0.0030 | 445 | c.-5+ others(460): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(438): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 223 | 0.0045 | 445 | c.289 others(462): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(438): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 223 | 0.0045 | 445 | c.289 others(462): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(438): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 | 1 | 362 | 0.0028 | 445 | c.-75 others(464): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(438): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 445 | c.*26 others(456): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
| NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCTCC others(438): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0000 | a0000c0004 | a0000c0004t0016 | a0000c0004t0016g0215 | 1 | 350 | 0.0029 | 445 | c.*55 others(456): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(438): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0103 | 1 | 294 | 0.0034 | 445 | c.902 others(460): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150015 | T | TCATACCA others(438): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 294 | 0.0034 | 445 | c.902 others(460): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132150015 | T | TCCTACCA others(438): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 294 | 0.0034 | 445 | c.902 others(460): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NRDE2_chr14_90262860_90336941 | 90300872 | G | GGGGAGGG others(438): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0169 | 1 | 344 | 0.0029 | 445 | c.154 others(462): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGAGGGG others(438): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0034 | 1 | 344 | 0.0029 | 445 | c.154 others(462): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(438): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0210 | 1 | 344 | 0.0029 | 445 | c.154 others(462): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| P2RY8_chrX_1457581_1542185 | 1514684 | C | CCTTCCCT others(438): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 114 | 0.0088 | 445 | c.-25 others(464): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
| PALLD_chr4_168492052_168933441 | 168738666 | G | GGTGATCC others(438): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02896.hp2 HG03516.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0010others(1): Show | a0001c0001t0001a0001c0004t0017a0002c0010t0006others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0077 a0001c0004t0017g0048 others(2): Show |
5 | 156 | 0.0321 | 445 | c.196 others(466): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168738666 | G | GGTGATCC others(438): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02040.hp1 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0022a0001c0002t0010others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0078 a0001c0001t0022g0114 others(15): Show |
18 | 156 | 0.1154 | 445 | c.196 others(466): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCDH11Y_chrY_4995296_5747224 | 5525214 | T | TGGGAGGA others(438): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0091 | 1 | 115 | 0.0087 | 445 | c.305 others(466): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
| PDE6B_chr4_620573_675782 | 660975 | A | AGTTGGAT others(438): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02630.hp1 HG02647.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0025a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0025t0001others(2): Show | a0001c0001t0001g0005 a0001c0001t0005g0167 a0001c0025t0001g0005 others(6): Show |
9 | 308 | 0.0292 | 445 | c.161 others(462): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(438): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 | 1 | 342 | 0.0029 | 445 | c.20- others(460): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(438): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0189 | 1 | 408 | 0.0025 | 445 | c.-10 others(462): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401552 | G | GCCCGCTC others(438): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 216 | 0.0046 | 445 | c.173 others(462): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(438): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 354 | 0.0028 | 445 | c.-27 others(454): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227202 | C | CCTCCCAC others(438): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03831.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 a0001c0004t0002g0137 |
2 | 448 | 0.0045 | 445 | c.449 others(460): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227202 | C | CCTCCCAC others(438): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01884.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0021 a0001c0001t0005g0058 a0001c0001t0005g0204 others(3): Show |
10 | 448 | 0.0223 | 445 | c.449 others(460): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227202 | C | CCTCCCAC others(438): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0207 a0001c0001t0001g0212 |
4 | 448 | 0.0089 | 445 | c.449 others(460): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| RAC2_chr22_37220270_37249269 | 37227202 | C | CCTCCCAC others(438): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02027.hp2 HG02040.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0080 a0001c0004t0005g0014 a0001c0004t0005g0044 others(5): Show |
15 | 448 | 0.0335 | 445 | c.449 others(460): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(438): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 318 | 0.0031 | 445 | c.*36 others(456): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(438): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 318 | 0.0031 | 445 | c.*36 others(456): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(438): Show |
intron_variant | MODIFIER | HG03471.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0247 |
2 | 276 | 0.0073 | 445 | c.132 others(462): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
| SAMD12_chr8_118372984_118626963 | 118469545 | T | TATAACAT others(438): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 188 | 0.0053 | 445 | c.193 others(464): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
| SHANK1_chr19_50654255_50724802 | 50678976 | G | GTGGGGAG others(438): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0055 | 1 | 316 | 0.0032 | 445 | c.257 others(464): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
| SIK3_chr11_116838402_117103428 | 116947184 | A | AATATATA others(438): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0028 | 1 | 366 | 0.0027 | 445 | c.454 others(462): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(438): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0247 | 1 | 346 | 0.0029 | 445 | c.-70 others(462): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SMIM2_chr13_44138150_44166257 | 44142132 | C | CCTCGGCT others(438): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 380 | 0.0026 | 445 | c.*17 others(456): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(438): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02895.hp1 |
a0001a0002 | a0001c0002a0002c0003a0002c0005 | a0001c0002t0001a0002c0003t0001a0002c0005t0001 | a0001c0002t0001g0020 a0002c0003t0001g0108 a0002c0005t0001g0142 |
3 | 150 | 0.0200 | 445 | c.107 others(466): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 965130 | A | ACCCCAAT others(438): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 190 | 0.0053 | 445 | c.72+ others(462): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SPATA13_chr13_24155720_24312069 | 24190154 | T | TATAATGA others(438): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 356 | 0.0028 | 445 | c.-11 others(466): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |