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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS2_chr21_41459305_41513158 | 41475639 | A | AGTGAGGG others(1094): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0188 | 1 | 382 | 0.0026 | 1101 | c.727 others(1116): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1095): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0266 | 1 | 306 | 0.0033 | 1102 | c.130 others(1121): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(1095): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0210 | 1 | 360 | 0.0028 | 1102 | c.170 others(1123): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1095): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 360 | 0.0028 | 1102 | c.170 others(1123): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318053 | C | CCCCCCTC others(1095): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 268 | 0.0037 | 1102 | c.-37 others(1113): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3660 | chr5 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932629 | T | TAAGGAAG others(1095): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | 162 | 0.0124 | 1102 | c.23- others(1117): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1095): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 210 | 0.0048 | 1102 | c.273 others(1119): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 384901 | A | ACACAGCC others(1095): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03453.hp1 HG03579.hp2 |
a0002a0003 | a0002c0002a0003c0011 | a0002c0002t0001a0003c0011t0001 | a0002c0002t0001g0051 a0002c0002t0001g0053 a0003c0011t0001g0052 |
3 | 184 | 0.0163 | 1102 | c.*31 others(1113): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2785 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(1095): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG02273.hp2 |
a0001a0027 | a0001c0003a0027c0031 | a0001c0003t0002a0027c0031t0002 | a0001c0003t0002g0173 a0027c0031t0002g0171 |
2 | 184 | 0.0109 | 1102 | c.*31 others(1113): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1435255 | G | GGTCTCAG others(1095): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0016 | 1 | 360 | 0.0028 | 1102 | c.92- others(1115): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101495840 | C | CATCCACC others(1095): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 266 | 0.0038 | 1102 | c.324 others(1121): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585233 | A | ATTGAGGG others(1095): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 354 | 0.0028 | 1102 | c.-22 others(1119): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(1095): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 354 | 0.0028 | 1102 | c.-22 others(1119): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(1095): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325 | 1 | 354 | 0.0028 | 1102 | c.-22 others(1119): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585435 | T | TGTTGAGG others(1095): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 354 | 0.0028 | 1102 | c.-22 others(1119): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1095): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0077 | 1 | 354 | 0.0028 | 1102 | c.-22 others(1119): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1095): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0308 | 1 | 354 | 0.0028 | 1102 | c.-22 others(1119): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539393 | G | GGCAGGGT others(1095): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0040 | a0001c0003t0005g0031 a0001c0003t0040g0011 |
2 | 104 | 0.0192 | 1102 | c.139 others(1123): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420420 | A | AAACACAC others(1095): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0414 | 1 | 432 | 0.0023 | 1102 | c.413 others(1119): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1095): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 284 | 0.0035 | 1102 | c.411 others(1119): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1095): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0044 | 1 | 106 | 0.0094 | 1102 | c.169 others(1121): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212418 | G | GTGTTTTG others(1095): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0103 | 1 | 148 | 0.0068 | 1102 | c.212 others(1123): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGAGG others(1095): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0083 | 1 | 88 | 0.0114 | 1102 | c.158 others(1119): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516593 | G | GGGGACGG others(1095): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0044 | 1 | 88 | 0.0114 | 1102 | c.86- others(1119): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1095): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0117 | a0117c0023 | a0117c0023t0002 | a0117c0023t0002g0190 | 1 | 252 | 0.0040 | 1102 | c.118 others(1121): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1095): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0019 | a0019c0174 | a0019c0174t0001 | a0019c0174t0001g0229 | 1 | 252 | 0.0040 | 1102 | c.118 others(1121): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGAGGAG others(1095): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0193 | a0001c0193t0001 | a0001c0193t0001g0060 | 1 | 252 | 0.0040 | 1102 | c.118 others(1121): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1095): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0014 | a0001c0001t0001g0197 a0001c0001t0003g0202 a0001c0006t0014g0386 |
3 | 418 | 0.0072 | 1102 | c.119 others(1121): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(1095): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG03041.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0035 others(5): Show |
10 | 275 | 0.0364 | 1102 | c.278 others(1121): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1095): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0024 | 1 | 143 | 0.0070 | 1102 | c.344 others(1119): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1095): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 | 1 | 143 | 0.0070 | 1102 | c.344 others(1119): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(1095): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03225.hp1 |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0029 a0005c0005t0002g0035 |
2 | 268 | 0.0075 | 1102 | c.-28 others(1113): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1095): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0231 | 1 | 276 | 0.0036 | 1102 | c.*65 others(1113): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953371 | A | AACCAGCC others(1095): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0051 | a0006c0051t0006 | a0006c0051t0006g0108 | 1 | 294 | 0.0034 | 1102 | c.503 others(1117): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(1095): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0068 | 1 | 296 | 0.0034 | 1102 | c.368 others(1119): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1095): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19080.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0041a0001c0003t0020 | a0001c0001t0041g0002 a0001c0003t0020g0005 |
2 | 108 | 0.0185 | 1102 | c.648 others(1121): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1095): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 108 | 0.0093 | 1102 | c.648 others(1121): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCCACC others(1095): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0066 | 1 | 140 | 0.0071 | 1102 | c.133 others(1121): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(1095): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080 a0002c0002t0001g0081 |
2 | 422 | 0.0047 | 1102 | c.195 others(1119): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(1095): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0094 | 1 | 324 | 0.0031 | 1102 | c.140 others(1119): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318053 | C | CCCCCCTC others(1095): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 360 | 0.0028 | 1102 | c.*35 others(1113): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3080 | chr5 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398660 | G | GCGTCACC others(1095): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 216 | 0.0046 | 1102 | c.106 others(1119): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(1095): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 216 | 0.0046 | 1102 | c.106 others(1119): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCATC others(1095): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 322 | 0.0031 | 1102 | c.*48 others(1113): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(1095): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 170 | 0.0059 | 1102 | c.59- others(1119): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1095): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02109.hp1 others(2): Show |
a0001a0009a0023others(2): Show | a0001c0082a0009c0055a0023c0108others(2): Show | a0001c0082t0002a0009c0055t0005a0023c0108t0003others(2): Show | a0001c0082t0002g0025 a0009c0055t0005g0061 a0023c0108t0003g0003 others(2): Show |
5 | 154 | 0.0325 | 1102 | c.108 others(1119): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1095): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0065 | a0003c0065t0002 | a0003c0065t0002g0150 | 1 | 154 | 0.0065 | 1102 | c.108 others(1119): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATG others(1095): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(21): Show | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0041 others(49): Show |
52 | 306 | 0.1699 | 1102 | c.*12 others(1115): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248627 | G | GGTGCATG others(1095): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0088 | a0001c0001t0034g0221 a0001c0001t0034g0222 a0001c0001t0088g0240 |
3 | 306 | 0.0098 | 1102 | c.*12 others(1115): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2577 | chr11 | TogoVar | |||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(1095): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0187 a0001c0004t0015g0188 |
2 | 318 | 0.0063 | 1102 | c.*57 others(1113): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar |