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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(985): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 992 | c.-22 others(1003): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(985): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0038 | a0038c0101 | a0038c0101t0008 | a0038c0101t0008g0261 | 1 | 338 | 0.0030 | 992 | c.300 others(1009): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(985): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0130 | 1 | 236 | 0.0042 | 992 | c.342 others(1013): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(985): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0127 | 1 | 236 | 0.0042 | 992 | c.294 others(1009): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(985): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235a0001c0001t0001g0236 | 2 | 448 | 0.0045 | 992 | c.51+ others(1007): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(985): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 448 | 0.0022 | 992 | c.51+ others(1007): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 516477 | A | AGGGGGTA others(985): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 88 | 0.0114 | 992 | c.86- others(1009): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(985): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0097 | a0097c0098 | a0097c0098t0001 | a0097c0098t0001g0104 | 1 | 252 | 0.0040 | 992 | c.118 others(1011): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(985): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 2 | 374 | 0.0054 | 992 | c.*14 others(1003): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(985): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0167 | 1 | 292 | 0.0034 | 992 | c.228 others(1009): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706323 | T | TAGATAGA others(985): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0236 | 1 | 292 | 0.0034 | 992 | c.228 others(1009): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(985): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0033 | a0006c0033t0004 | a0006c0033t0004g0199 | 1 | 369 | 0.0027 | 992 | c.-50 others(1003): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706323 | T | TAGATAGA others(985): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 369 | 0.0027 | 992 | c.-50 others(1003): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4877 | chr4 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(985): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01515.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0168a0001c0001t0001g0210a0001c0001t0003g0208others(1): Show | 4 | 418 | 0.0096 | 992 | c.119 others(1011): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(985): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 992 | c.-42 others(1003): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(985): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 264 | 0.0038 | 992 | c.180 others(1011): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68892196 | T | TGGGGTCA others(985): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 395 | 0.0025 | 992 | c.553 others(1007): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(985): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0028 | a0028c0071 | a0028c0071t0001 | a0028c0071t0001g0282 | 1 | 308 | 0.0033 | 992 | c.371 others(1009): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(985): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0057 | a0001c0008t0057g0115 | 1 | 314 | 0.0032 | 992 | c.916 others(1009): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(985): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0062 | 1 | 280 | 0.0036 | 992 | c.89- others(1005): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01496.hp2 HG01943.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0226a0001c0001t0004g0002a0001c0001t0004g0221 | 6 | 420 | 0.0143 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0232a0001c0001t0002g0316a0001c0004t0002g0016 | 4 | 420 | 0.0095 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0005a0001c0001t0002g0052a0002c0003t0002g0041 | 4 | 420 | 0.0095 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0102 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19000.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156a0001c0001t0001g0159a0001c0001t0001g0165 | 3 | 420 | 0.0071 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02027.hp2 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0179a0001c0001t0001g0208a0001c0001t0001g0308others(2): Show | 5 | 420 | 0.0119 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03486.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0362a0001c0001t0002g0036a0001c0001t0002g0202 | 3 | 420 | 0.0071 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(985): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 420 | 0.0024 | 992 | c.107 others(1009): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
THBS2_chr6_169210785_169258846 | 169242677 | T | TTCCCACC others(985): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0019 | a0001c0019t0014 | a0001c0019t0014g0311 | 1 | 396 | 0.0025 | 992 | c.695 others(1007): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(985): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 1 | 94 | 0.0106 | 992 | c.79+ others(1009): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029061 | A | ACCCCACA others(985): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0022 | a0022c0014 | a0022c0014t0001 | a0022c0014t0001g0085 | 1 | 224 | 0.0045 | 992 | c.225 others(1011): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196816 | T | TATATTTA others(985): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0019 | a0001c0019t0010 | a0001c0019t0010g0055 | 1 | 204 | 0.0049 | 992 | c.213 others(1011): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(986): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0003 | a0003c0012 | a0003c0012t0049 | a0003c0012t0049g0143 | 1 | 228 | 0.0044 | 993 | c.259 others(1014): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(986): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0283 | 1 | 380 | 0.0026 | 993 | c.313 others(1008): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(986): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0278a0001c0001t0002g0281a0001c0001t0004g0279others(4): Show | 7 | 380 | 0.0184 | 993 | c.313 others(1008): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(986): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0111 | 1 | 380 | 0.0026 | 993 | c.313 others(1008): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687192 | C | CCCCCGTG others(986): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 246 | 0.0041 | 993 | c.-15 others(1004): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1347 | chr8 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(986): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0218 | 1 | 257 | 0.0039 | 993 | c.*40 others(1004): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(986): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG03098.hp1 HG03486.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0104a0001c0001t0002g0038a0001c0001t0010g0048others(1): Show | 4 | 257 | 0.0156 | 993 | c.*40 others(1004): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar |