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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(1101): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 304 | 0.0033 | 1108 | c.66+ others(1123): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1101): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0120 | 1 | 334 | 0.0030 | 1108 | c.45- others(1123): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1101): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0006 | a0006c0062 | a0006c0062t0001 | a0006c0062t0001g0107 | 1 | 154 | 0.0065 | 1108 | c.108 others(1125): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1101): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(14): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0003a0001c0013others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(13): Show | a0001c0001t0001g0140 a0001c0003t0001g0006 a0001c0013t0001g0026 others(14): Show |
17 | 154 | 0.1104 | 1108 | c.108 others(1125): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1101): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0008 | a0008c0019 | a0008c0019t0001 | a0008c0019t0001g0001 | 1 | 154 | 0.0065 | 1108 | c.108 others(1125): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(1101): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0277 | 1 | 318 | 0.0031 | 1108 | c.*57 others(1119): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | |||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(1101): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG02818.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0016 | a0001c0001t0004g0206 a0001c0001t0004g0246 a0001c0002t0016g0083 |
3 | 318 | 0.0094 | 1108 | c.*57 others(1119): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377580 | G | GCCCCCAC others(1101): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0127 | 1 | 370 | 0.0027 | 1108 | c.-16 others(1119): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1555 | chr19 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437337 | C | CCACCCCT others(1101): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0146 | 1 | 344 | 0.0029 | 1108 | c.141 others(1127): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 140156981 | C | CTTTTCCA others(1101): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 98 | 0.0102 | 1108 | c.255 others(1129): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1101): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0050 | a0001c0001t0026g0128 a0001c0001t0050g0129 |
2 | 174 | 0.0115 | 1108 | c.148 others(1129): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1101): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1108 | c.*24 others(1119): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871076 | C | CACACACA others(1101): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 338 | 0.0030 | 1108 | c.*35 others(1127): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1101): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 167 | 0.0060 | 1108 | c.*53 others(1119): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293888 | A | ACAAGTTA others(1101): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0380 | 1 | 404 | 0.0025 | 1108 | c.340 others(1125): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1102): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 182 | 0.0055 | 1109 | c.505 others(1128): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1102): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 242 | 0.0041 | 1109 | c.927 others(1126): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1102): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 242 | 0.0041 | 1109 | c.927 others(1126): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1102): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0216 | 1 | 334 | 0.0030 | 1109 | c.147 others(1126): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90799045 | A | ATCCCAGC others(1102): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 280 | 0.0036 | 1109 | c.335 others(1126): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410796 | C | CCGGATCC others(1102): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 322 | 0.0031 | 1109 | c.-18 others(1120): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1650 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1102): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 376 | 0.0027 | 1109 | c.63+ others(1122): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1102): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 376 | 0.0027 | 1109 | c.63+ others(1122): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1102): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 376 | 0.0027 | 1109 | c.63+ others(1122): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1102): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(147): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(93): Show |
150 | 376 | 0.3989 | 1109 | c.63+ others(1122): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1102): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 376 | 0.0027 | 1109 | c.63+ others(1122): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1102): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 376 | 0.0027 | 1109 | c.63+ others(1122): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(1102): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0034 | 1 | 344 | 0.0029 | 1109 | c.85- others(1126): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1102): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 homoSapiens_chm13v2.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0027 a0003c0003t0001g0266 |
2 | 276 | 0.0073 | 1109 | c.*51 others(1120): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(1102): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0061 | 1 | 148 | 0.0068 | 1109 | c.183 others(1128): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1102): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002 | 1 | 252 | 0.0040 | 1109 | c.118 others(1128): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(1102): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0138 | a0138c0211 | a0138c0211t0006 | a0138c0211t0006g0064 | 1 | 252 | 0.0040 | 1109 | c.118 others(1128): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162529 | C | CCCAGGGC others(1102): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 364 | 0.0028 | 1109 | c.418 others(1126): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | NA19078.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 436 | 0.0046 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 436 | 0.0023 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(143): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(52): Show |
146 | 436 | 0.3349 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(37): Show |
142 | 436 | 0.3257 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0002 a0001c0002t0003g0014 |
2 | 436 | 0.0046 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02258.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003 | a0001c0002t0003g0001 a0001c0002t0003g0014 a0001c0003t0003g0004 |
5 | 436 | 0.0115 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 436 | 0.0023 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 436 | 0.0023 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0003 | 1 | 436 | 0.0023 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025 | 1 | 436 | 0.0023 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00642.hp1 others(62): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0070 others(34): Show |
65 | 436 | 0.1491 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0099 | 1 | 436 | 0.0023 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1102): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 NA18951.hp1 NA18970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0004 | a0001c0001t0008g0093 a0001c0001t0008g0094 a0001c0004t0004g0040 others(1): Show |
5 | 436 | 0.0115 | 1109 | c.*56 others(1120): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1102): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0241 | 1 | 322 | 0.0031 | 1109 | c.*48 others(1120): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0015a0001c0020others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 others(135): Show |
139 | 322 | 0.4317 | 1109 | c.*48 others(1120): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0125 | 1 | 322 | 0.0031 | 1109 | c.*48 others(1120): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1102): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0211 | 1 | 322 | 0.0031 | 1109 | c.*48 others(1120): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar |