| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(495): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001 | a0001c0001t0001g0216 a0001c0002t0001g0079 a0002c0005t0001g0377 |
3 | 90 | 0.0333 | 502 | c.146 others(519): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GPBP1_chr5_57169059_57269673 | 57249833 | T | TCCCCTTC others(495): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 223 | 0.0045 | 502 | c.972 others(517): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(495): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0062 | 1 | 70 | 0.0143 | 502 | c.-97 others(519): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2961216 | A | AATATAGT others(495): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0049 | 1 | 263 | 0.0038 | 502 | c.-28 others(513): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2354 | chr4 | TogoVar | |||||||
| GSE1_chr16_85608322_85681200 | 85653208 | C | CTCTCCCC others(495): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 277 | 0.0036 | 502 | c.427 others(519): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(495): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 204 | 0.0049 | 502 | c.-36 others(513): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
| IL1RAPL2_chrX_104561199_105772829 | 105307514 | T | TATATATA others(495): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 134 | 0.0075 | 502 | c.697 others(521): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(495): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0193 | 1 | 13 | 0.0769 | 502 | c.978 others(519): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 163275 | T | TCCACAGA others(495): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0232 | 1 | 280 | 0.0036 | 502 | c.258 others(519): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(495): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0262 | 1 | 247 | 0.0040 | 502 | c.283 others(521): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
| KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(495): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 247 | 0.0040 | 502 | c.283 others(521): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
| KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(495): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 247 | 0.0040 | 502 | c.283 others(521): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
| KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(495): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 189 | 0.0053 | 502 | c.-67 others(521): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| KCNT2_chr1_196220779_196613440 | 196437080 | T | TATAAATA others(495): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 50 | 0.0200 | 502 | c.639 others(519): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
| KREMEN1_chr22_29068035_29151820 | 29120414 | A | AGGAAACA others(495): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02040.hp1 HG02071.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0006a0001c0001t0054a0001c0001t0068others(6): Show | a0001c0001t0006g0345 a0001c0001t0006g0347 a0001c0001t0006g0349 others(32): Show |
36 | 218 | 0.1651 | 502 | c.353 others(517): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| KREMEN1_chr22_29068035_29151820 | 29120414 | A | AGGAAACA others(495): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18964.hp2 NA18995.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0013a0002c0003t0072 | a0002c0003t0003g0229 a0002c0003t0013g0211 a0002c0003t0072g0206 |
3 | 185 | 0.0162 | 502 | c.353 others(517): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| LKAAEAR1_chr20_64078376_64089398 | 64088932 | G | GGAGGCCA others(495): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 68 | 0.0147 | 502 | c.-47 others(513): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4535 | chr20 | TogoVar | |||||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(495): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02615.hp2 |
a0006a0017 | a0006c0020a0017c0038 | a0006c0020t0001a0017c0038t0001 | a0006c0020t0001g0053 a0017c0038t0001g0120 |
2 | 9 | 0.2222 | 502 | c.342 others(521): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(495): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02896.hp2 HG02897.hp1 others(10): Show |
a0002a0006a0008others(7): Show | a0002c0004a0002c0005a0006c0027others(10): Show | a0002c0004t0001a0002c0005t0001a0006c0027t0001others(10): Show | a0002c0004t0001g0129 a0002c0005t0001g0056 a0006c0027t0001g0060 others(10): Show |
13 | 20 | 0.6500 | 502 | c.342 others(521): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(495): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 NA18981.hp1 |
a0008a0025 | a0008c0006a0025c0098 | a0008c0006t0001a0025c0098t0001 | a0008c0006t0001g0034 a0008c0006t0001g0094 a0025c0098t0001g0016 |
3 | 10 | 0.3000 | 502 | c.342 others(521): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(495): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0072 | a0072c0078 | a0072c0078t0001 | a0072c0078t0001g0099 | 1 | 8 | 0.1250 | 502 | c.342 others(521): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(495): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0057 | 1 | 8 | 0.1250 | 502 | c.342 others(521): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(495): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 8 | 0.1250 | 502 | c.342 others(521): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6579325 | C | CCACCACC others(495): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 255 | 0.0039 | 502 | c.391 others(517): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7062002 | T | TTAAATAT others(495): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 286 | 0.0035 | 502 | c.-33 others(513): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3327 | chr19 | TogoVar | |||||||
| MCMBP_chr10_119824440_119877843 | 119864863 | T | TTTGAGAG others(495): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 398 | 0.0025 | 502 | c.59- others(517): Show |
MCMBP | ENSG00000197771.13 | transcript | ENST00000369077.4 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237543179 | G | GGGGACAG others(495): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0076 | 1 | 276 | 0.0036 | 502 | c.153 others(519): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(495): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0291 | 1 | 218 | 0.0046 | 502 | c.159 others(519): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(495): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094 a0001c0002t0002g0095 |
2 | 157 | 0.0127 | 502 | c.358 others(519): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(495): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0006 | a0006c0009 | a0006c0009t0007 | a0006c0009t0007g0060 | 1 | 156 | 0.0064 | 502 | c.358 others(519): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MVP_chr16_29815462_29853021 | 29843538 | A | AAGGGAGG others(495): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 217 | 0.0046 | 502 | c.163 others(519): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MYT1L_chr2_1784113_2336275 | 2295581 | G | GACAGACA others(495): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 66 | 0.0152 | 502 | c.-52 others(523): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
| NCAPG2_chr7_158626169_158709804 | 158667722 | T | TCCCTTAC others(495): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 a0001c0001t0001g0364 |
2 | 183 | 0.0109 | 502 | c.148 others(521): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(495): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 502 | c.*26 others(513): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
| NOP14_chr4_2932936_2968406 | 2961216 | A | AATATAGT others(495): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0012 | a0011c0012t0013 | a0011c0012t0013g0060 | 1 | 417 | 0.0024 | 502 | c.195 others(519): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841375 | A | ACACGGAG others(495): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 239 | 0.0042 | 502 | c.361 others(521): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841411 | T | TGACCACA others(495): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0192 | 1 | 222 | 0.0045 | 502 | c.361 others(521): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841526 | C | CGACCACA others(495): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0179 | 1 | 173 | 0.0058 | 502 | c.361 others(521): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(495): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0031 | 1 | 151 | 0.0066 | 502 | c.361 others(521): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OPRL1_chr20_64075082_64105633 | 64088932 | G | GGAGGCCA others(495): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0012 | 1 | 40 | 0.0250 | 502 | c.-18 others(521): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| OTOF_chr2_26452203_26483124 | 26476536 | C | CCCTTCCC others(495): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 314 | 0.0032 | 502 | c.436 others(517): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
| OTOF_chr2_26452203_26563756 | 26476493 | T | TCCCCAAC others(495): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0096 | 1 | 281 | 0.0036 | 502 | c.267 others(519): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | |||||||
| OTOF_chr2_26452203_26563756 | 26476536 | C | CCCTTCCC others(495): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0004 | a0004c0076 | a0004c0076t0001 | a0004c0076t0001g0124 | 1 | 269 | 0.0037 | 502 | c.267 others(519): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | |||||||
| PERM1_chr1_970198_987093 | 976810 | G | GCAACCCC others(495): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 75 | 0.0133 | 502 | c.215 others(519): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| PIAS4_chr19_4002736_4044386 | 4011875 | T | TGGGGTGT others(495): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0231 | 1 | 322 | 0.0031 | 502 | c.28- others(517): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PIAS4_chr19_4002736_4044386 | 4011943 | T | TGGGGTGT others(495): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0042 | 1 | 325 | 0.0031 | 502 | c.28- others(515): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(495): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0227 | 1 | 320 | 0.0031 | 502 | c.-10 others(519): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PLEKHN1_chr1_961482_980865 | 976810 | G | GCAACCCC others(495): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 79 | 0.0127 | 502 | c.*22 others(513): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 946 | chr1 | TogoVar | |||||||
| PPP6R2_chr22_50338327_50450090 | 50397617 | A | AGGGGGCC others(495): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 216 | 0.0046 | 502 | c.227 others(519): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PTPN12_chr7_77532295_77645069 | 77533995 | T | TCCCGGAC others(495): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0286 | 1 | 36 | 0.0278 | 502 | c.-35 others(513): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 3299 | chr7 | TogoVar |