| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GRIN1_chr9_137134154_137173756 | 137145192 | T | TGGGGACA others(732): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0240 | 1 | 298 | 0.0034 | 739 | c.394 others(754): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(732): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18940.hp2 NA18954.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0040a0001c0002t0008g0042a0001c0002t0008g0112 | 3 | 282 | 0.0106 | 739 | c.737 others(758): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(732): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02615.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0010a0001c0002t0030others(1): Show | a0001c0002t0001g0142a0001c0002t0010g0107a0001c0002t0010g0126others(3): Show | 6 | 282 | 0.0213 | 739 | c.737 others(758): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| HNF4A_chr20_44350699_44437845 | 44404776 | T | TGTGTTTG others(732): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02647.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0012a0001c0011t0080 | a0001c0001t0001g0241a0001c0001t0012g0228a0001c0001t0012g0240others(1): Show | 4 | 322 | 0.0124 | 739 | c.50- others(754): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(732): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 376 | 0.0027 | 739 | c.666 others(756): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(732): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103 | 1 | 376 | 0.0027 | 739 | c.666 others(756): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(732): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0104 | 1 | 376 | 0.0027 | 739 | c.666 others(756): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(732): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 376 | 0.0027 | 739 | c.666 others(756): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(732): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0364 | 1 | 376 | 0.0027 | 739 | c.666 others(756): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(732): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 204 | 0.0049 | 739 | c.978 others(756): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(732): Show |
intron_variant | MODIFIER | HG00544.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0164 | 2 | 204 | 0.0098 | 739 | c.978 others(756): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INS_chr11_2154779_2166209 | 2161678 | G | GGACCCCT others(732): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 739 | c.-52 others(748): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 470 | chr11 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236345147 | C | CTTCCCTC others(732): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00735.hp2 others(49): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0017a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0037a0001c0001t0001g0044a0001c0001t0001g0045others(49): Show | 52 | 208 | 0.2500 | 739 | c.187 others(756): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236345147 | C | CTTCCCTC others(732): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 208 | 0.0048 | 739 | c.187 others(756): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236345147 | C | CTTCCCTC others(732): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0068 | 1 | 208 | 0.0048 | 739 | c.187 others(756): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236345147 | C | CTTCCCTC others(732): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 208 | 0.0048 | 739 | c.187 others(756): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(732): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0200a0002c0002t0002g0123 | 2 | 312 | 0.0064 | 739 | c.-41 others(754): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| KHSRP_chr19_6408102_6429811 | 6429382 | G | GAGGTGGA others(732): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0155 | 1 | 386 | 0.0026 | 739 | c.-46 others(750): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4572 | chr19 | TogoVar | ||||||
| LAMC1_chr1_183018420_183150592 | 183149568 | T | TCTCCTCA others(732): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 NA18959.hp2 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0291a0001c0003t0013g0293 | 2 | 308 | 0.0065 | 739 | c.*67 others(750): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3977 | chr1 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(732): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 388 | 0.0026 | 739 | c.159 others(756): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 767633 | G | GCGCGTGG others(732): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 388 | 0.0026 | 739 | c.159 others(756): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(732): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 350 | 0.0029 | 739 | c.-28 others(750): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(732): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 334 | 0.0030 | 739 | c.114 others(758): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PLEKHG1_chr6_150594885_150848665 | 150776548 | T | TCACACTG others(732): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0146 | 1 | 272 | 0.0037 | 739 | c.512 others(756): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50351292 | G | GGCCTCCC others(732): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0003 | a0003c0006 | a0003c0006t0009 | a0003c0006t0009g0110 | 1 | 340 | 0.0029 | 739 | c.-14 others(758): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGGCC others(732): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 330 | 0.0030 | 739 | c.-49 others(750): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 355862 | A | AACAGTCG others(732): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 133 | 0.0075 | 739 | c.-33 others(750): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3056 | chr17 | TogoVar | ||||||
| SLC37A1_chr21_42508852_42586426 | 42570073 | A | ATGTCATG others(732): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0005 | a0003c0005t0016 | a0003c0005t0016g0189 | 1 | 356 | 0.0028 | 739 | c.142 others(758): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 246071871 | G | GCTGTGCT others(732): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0125 | 1 | 150 | 0.0067 | 739 | c.532 others(760): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(732): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0074 | 1 | 190 | 0.0053 | 739 | c.72+ others(756): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1221558 | C | CCTCTCTG others(732): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 190 | 0.0053 | 739 | c.719 others(758): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46169756 | A | AACATCCT others(732): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show |
a0001a0007a0010others(1): Show | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0014others(49): Show | 70 | 251 | 0.2789 | 739 | c.194 others(756): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | ||||||
| SPATC1L_chr21_46156160_46189459 | 46169826 | C | CTCTGTGA others(732): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 251 | 0.0040 | 739 | c.194 others(756): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(732): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 739 | c.*64 others(750): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| TH_chr11_2158929_2176815 | 2161678 | G | GGACCCCT others(732): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 388 | 0.0026 | 739 | c.*25 others(750): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2250 | chr11 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 139755504 | A | AAGGACAG others(732): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01069.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0003a0001c0003t0020others(3): Show | a0001c0001t0004g0064a0001c0001t0004g0078a0001c0002t0003g0006others(7): Show | 10 | 98 | 0.1020 | 739 | c.305 others(760): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 139755504 | A | AAGGACAG others(732): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0011 | 1 | 98 | 0.0102 | 739 | c.305 others(760): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 139755504 | A | AAGGACAG others(732): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0021 | 1 | 98 | 0.0102 | 739 | c.305 others(760): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238871097 | C | CACACACA others(732): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 338 | 0.0030 | 739 | c.*35 others(758): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292490 | A | AACTCTAG others(732): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 404 | 0.0025 | 739 | c.339 others(756): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46292540 | G | GAGTGGAG others(732): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 404 | 0.0025 | 739 | c.339 others(756): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46293489 | C | CGTGCCCG others(732): Show |
intron_variant | MODIFIER | NA19079.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298a0001c0001t0002g0356 | 2 | 404 | 0.0050 | 739 | c.339 others(756): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(732): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0083a0002c0003t0004g0184 | 2 | 290 | 0.0069 | 739 | c.205 others(758): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(732): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0266 | 1 | 383 | 0.0026 | 739 | c.-42 others(750): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZZEF1_chr17_3999445_4148030 | 4018987 | G | GTTTTTTT others(732): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp1 others(13): Show |
a0005a0007 | a0005c0005a0005c0061a0007c0006 | a0005c0005t0006a0005c0005t0020a0005c0061t0005others(1): Show | a0005c0005t0006g0006a0005c0005t0006g0007a0005c0005t0006g0008others(13): Show | 16 | 296 | 0.0541 | 739 | c.750 others(756): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 46/54 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(733): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 337 | 0.0030 | 740 | c.61+ others(755): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(733): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0023 | a0023c0054 | a0023c0054t0005 | a0023c0054t0005g0005 | 1 | 262 | 0.0038 | 740 | c.106 others(759): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(733): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0079 | a0001c0001t0016g0086a0001c0001t0079g0445 | 2 | 462 | 0.0043 | 740 | c.564 others(755): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
| ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(733): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 350 | 0.0029 | 740 | c.181 others(757): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
| ANO2_chr12_5557655_5950259 | 5932324 | A | ATAGACTA others(733): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 162 | 0.0062 | 740 | c.23- others(755): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar |