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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HELB_chr12_66297493_66343199 | 66327066 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01952.hp2 NA20129.hp2 |
a0002a0016 | a0002c0001a0016c0021 | a0002c0001t0002a0016c0021t0001 | a0002c0001t0002g0206 a0016c0021t0001g0221 |
2 | 390 | 0.0051 | 26 | c.267 others(45): Show |
HELB | ENSG00000127311.10 | transcript | ENST00000247815.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HELLS_chr10_94540788_94607099 | 94542798 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 358 | 0.0028 | 26 | c.-31 others(37): Show |
HELLS | ENSG00000119969.16 | transcript | ENST00000348459.10 | protein_coding | 2989 | chr10 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67086631 | A | AATATAAA others(19): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0260 | 1 | 274 | 0.0037 | 26 | c.549 others(43): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 32/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATAGAGA others(19): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0245 a0001c0001t0006g0250 |
2 | 274 | 0.0073 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATAGA others(19): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01993.hp2 HG02698.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0205 a0002c0002t0003g0052 a0002c0002t0003g0060 |
3 | 274 | 0.0110 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01981.hp2 NA18975.hp1 |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0001a0008c0018t0001 | a0001c0001t0001g0238 a0001c0001t0001g0242 a0008c0018t0001g0204 |
3 | 274 | 0.0110 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19064.hp1 NA19068.hp1 others(1): Show |
a0001a0004a0012 | a0001c0001a0004c0005a0012c0019 | a0001c0001t0001a0001c0001t0057a0004c0005t0012others(1): Show | a0001c0001t0001g0187 a0001c0001t0057g0221 a0004c0005t0012g0072 others(1): Show |
4 | 274 | 0.0146 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02273.hp1 HG02300.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0029a0002c0002t0003others(1): Show | a0001c0001t0001g0186 a0001c0001t0001g0224 a0001c0001t0001g0225 others(4): Show |
7 | 274 | 0.0256 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01361.hp1 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0037a0001c0001t0056others(1): Show | a0001c0001t0001g0191 a0001c0001t0001g0206 a0001c0001t0037g0005 others(2): Show |
5 | 274 | 0.0183 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02109.hp2 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005a0002c0002t0046 | a0001c0001t0001g0211 a0001c0001t0001g0223 a0002c0002t0005g0084 others(1): Show |
4 | 274 | 0.0146 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18965.hp2 |
a0001a0011 | a0001c0001a0011c0008 | a0001c0001t0055a0011c0008t0003 | a0001c0001t0055g0167 a0011c0008t0003g0038 |
2 | 274 | 0.0073 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 274 | 0.0037 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 274 | 0.0037 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HELZ_chr17_67065444_67250196 | 67089668 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0248 | 1 | 274 | 0.0037 | 26 | c.524 others(45): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 31/32 | chr17 | TogoVar | |||||||
HEMK1_chr3_50564522_50601166 | 50591663 | C | CGTGTGTG others(19): Show |
3_prime_UTR_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0124 | a0001c0002t0124g0010 | 1 | 320 | 0.0031 | 26 | c.*11 others(39): Show |
HEMK1 | ENSG00000114735.10 | transcript | ENST00000232854.9 | protein_coding | 11/11 | 11281 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 368 | 0.0027 | 26 | c.243 others(43): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATAGATA others(19): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 368 | 0.0027 | 26 | c.243 others(43): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94093971 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG02559.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0006t0006a0004c0004t0001 | a0001c0001t0001g0180 a0001c0001t0001g0215 a0001c0001t0001g0333 others(6): Show |
9 | 368 | 0.0245 | 26 | c.243 others(43): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94115572 | C | CATATATA others(19): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0022 | a0022c0031 | a0022c0031t0002 | a0022c0031t0002g0278 | 1 | 368 | 0.0027 | 26 | c.*36 others(37): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 1365 | chr11 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63720103 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 NA18522.hp2 others(1): Show |
a0001a0020 | a0001c0001a0020c0033 | a0001c0001t0001a0020c0033t0001 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0164 others(1): Show |
4 | 216 | 0.0185 | 26 | c.374 others(45): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 19/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63821726 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0094 | 1 | 216 | 0.0046 | 26 | c.-27 others(45): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63826804 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 216 | 0.0046 | 26 | c.-27 others(43): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63829559 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 216 | 0.0046 | 26 | c.-27 others(43): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 1/77 | chr15 | TogoVar | |||||||
HERC2_chr15_28106040_28327179 | 28279615 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0006 | 1 | 250 | 0.0040 | 26 | c.542 others(41): Show |
HERC2 | ENSG00000128731.18 | transcript | ENST00000261609.13 | protein_coding | 5/92 | chr15 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631695 | A | AAAATATA others(19): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 392 | 0.0026 | 26 | c.*19 others(37): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 963 | chr7 | TogoVar | |||||||
HEXA_chr15_72335924_72381014 | 72340841 | T | TCACACAC others(19): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0182 |
2 | 354 | 0.0057 | 26 | c.*32 others(37): Show |
HEXA | ENSG00000213614.11 | transcript | ENST00000268097.10 | protein_coding | 82 | chr15 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433091 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121 | 1 | 400 | 0.0025 | 26 | c.283 others(41): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEY1_chr8_79759010_79772767 | 79769371 | A | ATCTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 460 | 0.0022 | 26 | c.-17 others(37): Show |
HEY1 | ENSG00000164683.19 | transcript | ENST00000354724.8 | protein_coding | 1605 | chr8 | TogoVar | |||||||
HFM1_chr1_91255766_91409837 | 91264361 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0207 a0002c0003t0001g0328 |
2 | 362 | 0.0055 | 26 | c.397 others(45): Show |
HFM1 | ENSG00000162669.16 | transcript | ENST00000370425.8 | protein_coding | 36/38 | chr1 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120624712 | G | GGAGAGAG others(19): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01928.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(10): Show |
13 | 374 | 0.0348 | 26 | c.*36 others(37): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 3459 | chr3 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120630798 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 374 | 0.0027 | 26 | c.118 others(45): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
HGD_chr3_120623172_120687239 | 120630825 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 374 | 0.0027 | 26 | c.118 others(45): Show |
HGD | ENSG00000113924.12 | transcript | ENST00000283871.10 | protein_coding | 13/13 | chr3 | TogoVar | |||||||
HGF_chr7_81694010_81775047 | 81697198 | T | TTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02976.hp1 HG03704.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0004 | a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0002g0171 others(2): Show |
5 | 272 | 0.0184 | 26 | c.*53 others(37): Show |
HGF | ENSG00000019991.18 | transcript | ENST00000222390.11 | protein_coding | 1811 | chr7 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326926 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG02258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0012 | a0001c0001t0007g0012 a0001c0002t0012g0068 |
2 | 268 | 0.0075 | 26 | c.-22 others(37): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1975 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0131 | 1 | 268 | 0.0037 | 26 | c.-21 others(37): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 NA19090.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0006t0004 | a0001c0001t0009g0161 a0001c0006t0004g0177 |
2 | 268 | 0.0075 | 26 | c.-21 others(37): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210326958 | T | TATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0165 | 1 | 268 | 0.0037 | 26 | c.-21 others(37): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1943 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210327292 | T | TACCCAGG others(19): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0230 | 1 | 268 | 0.0037 | 26 | c.-18 others(37): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1609 | chr1 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210334178 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03831.hp2 HG04199.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0003c0004t0003 | a0001c0001t0003g0138 a0003c0004t0003g0137 |
2 | 268 | 0.0075 | 26 | c.-44 others(43): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210535431 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0214 | 1 | 268 | 0.0037 | 26 | c.104 others(47): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210601937 | C | CAGAGAGA others(19): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01169.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0185 a0001c0001t0001g0233 a0001c0001t0002g0086 others(6): Show |
9 | 268 | 0.0336 | 26 | c.124 others(47): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HIC1_chr17_2050103_2068241 | 2066652 | T | TACACACA others(19): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0057 | a0001c0001t0001g0001 a0001c0001t0057g0001 |
2 | 414 | 0.0048 | 26 | c.*78 others(37): Show |
HIC1 | ENSG00000177374.13 | transcript | ENST00000619757.5 | protein_coding | 3412 | chr17 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86318303 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG02083.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0026 others(9): Show |
15 | 398 | 0.0377 | 26 | c.268 others(45): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125962149 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01257.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 a0002c0002t0002g0014 |
4 | 268 | 0.0149 | 26 | c.202 others(43): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122865058 | T | TACTTGGA others(19): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | 26 | c.*33 others(37): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 2098 | chr12 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75595283 | C | CCTTCCTT others(19): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01993.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0172 a0001c0001t0001g0247 a0001c0001t0002g0042 others(5): Show |
8 | 254 | 0.0315 | 26 | c.185 others(43): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIPK3_chr11_33252381_33362023 | 33301821 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG01981.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0148 a0001c0001t0001g0157 others(5): Show |
8 | 342 | 0.0234 | 26 | c.109 others(47): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIRA_chr22_19325698_19436733 | 19386071 | G | GGGGGGGG others(19): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 364 | 0.0028 | 26 | c.111 others(43): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 11/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12046845 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19064.hp2 |
a0001a0002 | a0001c0005a0002c0011 | a0001c0005t0001a0002c0011t0001 | a0001c0005t0001g0230 a0002c0011t0001g0139 |
2 | 344 | 0.0058 | 26 | c.40+ others(43): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12051016 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0017 | a0017c0037 | a0017c0037t0001 | a0017c0037t0001g0322 | 1 | 344 | 0.0029 | 26 | c.40+ others(43): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |