| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(464): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0214 | 1 | 362 | 0.0028 | 471 | c.-75 others(490): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(464): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 471 | c.*26 others(482): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(464): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | 471 | c.*26 others(482): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
| NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(464): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292 | 1 | 356 | 0.0028 | 471 | c.91+ others(484): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535671 | T | TGGAGGGG others(464): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0236 | 1 | 324 | 0.0031 | 471 | c.140 others(488): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535835 | G | GGGGGAGC others(464): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18990.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0007a0001c0011t0001 | a0001c0001t0007g0262 a0001c0011t0001g0260 a0001c0011t0001g0261 |
3 | 324 | 0.0093 | 471 | c.140 others(488): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(464): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18966.hp2 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0012 | a0002c0002t0004g0065 a0002c0002t0004g0071 a0002c0002t0012g0091 |
3 | 344 | 0.0087 | 471 | c.154 others(488): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(464): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0031 a0002c0002t0029g0032 |
2 | 344 | 0.0058 | 471 | c.154 others(488): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(464): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(30): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0011others(19): Show | a0002c0002t0004g0056 a0002c0002t0004g0078 a0002c0002t0004g0079 others(27): Show |
33 | 344 | 0.0959 | 471 | c.154 others(488): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(464): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0063 | 1 | 344 | 0.0029 | 471 | c.154 others(488): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(464): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0123 | a0002c0002t0123g0074 | 1 | 344 | 0.0029 | 471 | c.154 others(488): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685993 | G | GAGAACAG others(464): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 362 | 0.0028 | 471 | c.981 others(488): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| PAK2_chr3_196734857_196837647 | 196811321 | T | TCCTTTCC others(464): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0058 | 1 | 178 | 0.0056 | 471 | c.773 others(486): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(464): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 342 | 0.0029 | 471 | c.20- others(486): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(464): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 342 | 0.0029 | 471 | c.20- others(486): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| PDXK_chr21_43714129_43767299 | 43741188 | G | GGGGGGGG others(464): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 358 | 0.0028 | 471 | c.143 others(486): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977348 | C | CAACCCCG others(464): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 408 | 0.0025 | 471 | c.215 others(488): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(464): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0155 | 1 | 408 | 0.0025 | 471 | c.-10 others(488): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(464): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0101 | 1 | 346 | 0.0029 | 471 | c.176 others(490): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
| PJA2_chr5_109329722_109414974 | 109354358 | T | TATGCTAT others(464): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0107 | 1 | 346 | 0.0029 | 471 | c.176 others(490): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2106627 | C | CTTCAGCA others(464): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 286 | 0.0035 | 471 | c.335 others(490): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RABL6_chr9_136802948_136846187 | 136803214 | T | TGGGGCCC others(464): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 330 | 0.0030 | 471 | c.-49 others(482): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4733 | chr9 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGGCCC others(464): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 330 | 0.0030 | 471 | c.-49 others(482): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | |||||||
| RAMACL_chr6_166578009_166591678 | 166581999 | A | ACAGGGAG others(464): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 442 | 0.0023 | 471 | c.*41 others(482): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1009 | chr6 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(464): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 318 | 0.0031 | 471 | c.*36 others(482): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| RFC1_chr4_39282456_39371362 | 39348443 | A | AAAAGGAA others(464): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 276 | 0.0036 | 471 | c.132 others(488): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
| RGPD5_chr2_109789305_109862705 | 109794584 | G | GGGGGGGG others(464): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 |
a0004 | a0004c0004 | a0004c0004t0013a0004c0004t0015 | a0004c0004t0013g0034 a0004c0004t0015g0035 |
2 | 40 | 0.0500 | 471 | c.72+ others(482): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| RNF150_chr4_140854807_141138469 | 140999942 | A | AAAAAAAA others(464): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0052 | 1 | 184 | 0.0054 | 471 | c.485 others(490): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
| RNF17_chr13_24759169_24884921 | 24881816 | C | CTATATAG others(464): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0323 | 1 | 426 | 0.0024 | 471 | c.*20 others(482): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1896 | chr13 | TogoVar | |||||||
| RPS6KA2_chr6_166404364_166632251 | 166581999 | A | ACAGGGAG others(464): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0021 | 1 | 244 | 0.0041 | 471 | c.100 others(490): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATGC others(464): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0020 | a0001c0020t0005 | a0001c0020t0005g0022 | 1 | 280 | 0.0036 | 471 | c.89- others(484): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(464): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0045 | 1 | 280 | 0.0036 | 471 | c.89- others(484): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387779 | A | AATATAAA others(464): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 | 1 | 346 | 0.0029 | 471 | c.-70 others(488): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SMAD2_chr18_47803957_47935659 | 47850538 | T | TTATATAT others(464): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0176 | 1 | 310 | 0.0032 | 471 | c.784 others(486): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
| SPPL2B_chr19_2323684_2360095 | 2333198 | T | TGCTGGGA others(464): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 414 | 0.0024 | 471 | c.67- others(486): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 1/14 | chr19 | TogoVar | |||||||
| SUFU_chr10_102498972_102638535 | 102637656 | G | GATTATAA others(464): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0085 | 1 | 268 | 0.0037 | 471 | c.*75 others(482): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4122 | chr10 | TogoVar | |||||||
| TCF25_chr16_89868592_89916379 | 89885103 | G | GCCCTCTC others(464): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 300 | 0.0033 | 471 | c.429 others(486): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(464): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0029 | 1 | 352 | 0.0028 | 471 | c.299 others(488): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| THEG_chr19_356747_381026 | 377580 | G | GCCCCACC others(464): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0118 | 1 | 370 | 0.0027 | 471 | c.-16 others(482): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1555 | chr19 | TogoVar | |||||||
| THNSL2_chr2_88165346_88191627 | 88181122 | C | CTCTCTCC others(464): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0036 | 1 | 54 | 0.0185 | 471 | c.803 others(488): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
| TMEM178B_chr7_141069064_141485380 | 141337165 | C | CACCATCA others(464): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03516.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0010a0001c0002t0042 | a0001c0001t0004g0023 a0001c0001t0010g0021 a0001c0002t0042g0054 |
3 | 80 | 0.0375 | 471 | c.497 others(492): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| TP53AIP1_chr11_128930370_128947871 | 128930711 | A | AGGGGTTA others(464): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 466 | 0.0022 | 471 | c.*48 others(482): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4658 | chr11 | TogoVar | |||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(464): Show |
intron_variant | MODIFIER | HG01978.hp1 HG01993.hp1 HG02698.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 a0002c0003t0002g0034 a0002c0003t0002g0036 |
6 | 334 | 0.0180 | 471 | c.657 others(486): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| VCX3B_chrX_8459830_8471510 | 8467117 | T | TGGTGTGT others(464): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0077 | a0077c0051 | a0077c0051t0039 | a0077c0051t0039g0006 | 1 | 271 | 0.0037 | 471 | c.*73 others(480): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 608 | chrX | TogoVar | |||||||
| VCX3B_chrX_8459830_8471510 | 8467378 | A | AGGGAGGG others(464): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0011 | 1 | 271 | 0.0037 | 471 | c.*99 others(480): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 869 | chrX | TogoVar | |||||||
| WDR64_chr1_241647281_241807777 | 241675073 | G | GCCTCCCT others(464): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 326 | 0.0031 | 471 | c.483 others(486): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(464): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 350 | 0.0029 | 471 | c.-36 others(482): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(465): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0085 | 1 | 306 | 0.0033 | 472 | c.130 others(491): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(465): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0263 | 1 | 306 | 0.0033 | 472 | c.130 others(491): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ACAP3_chr1_1287391_1312930 | 1289765 | T | TCCCGTGT others(465): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 295 | 0.0034 | 472 | c.*37 others(483): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2625 | chr1 | TogoVar |