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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
YBEY_chr21_46281342_46302751 | 46294250 | T | TCAGCCAC others(2434): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 404 | 0.0025 | 2441 | c.340 others(2458): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932365 | A | AAAGGAAA others(2435): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 162 | 0.0062 | 2442 | c.23- others(2457): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2435): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01081.hp2 others(24): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0267 a0001c0001t0001g0269 others(22): Show |
27 | 410 | 0.0659 | 2442 | c.213 others(2459): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2435): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 410 | 0.0024 | 2442 | c.213 others(2459): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2435): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0266 | 1 | 410 | 0.0024 | 2442 | c.213 others(2459): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2435): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 378 | 0.0027 | 2442 | c.*49 others(2453): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(2435): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 378 | 0.0027 | 2442 | c.*49 others(2453): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(2435): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 a0001c0001t0003g0198 |
2 | 268 | 0.0075 | 2442 | c.139 others(2463): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(2435): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 268 | 0.0037 | 2442 | c.139 others(2463): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923820 | C | CGAGGAGA others(2435): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 292 | 0.0034 | 2442 | c.718 others(2459): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2435): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0000 | 1 | 375 | 0.0027 | 2442 | c.*44 others(2453): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2435): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0080 | 1 | 250 | 0.0040 | 2442 | c.-22 others(2461): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311861 | C | CGTTCACC others(2435): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 |
2 | 344 | 0.0058 | 2442 | c.327 others(2459): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311861 | C | CGTTCACC others(2435): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 344 | 0.0029 | 2442 | c.327 others(2459): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311861 | C | CGTTCACC others(2435): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(4): Show |
7 | 344 | 0.0204 | 2442 | c.327 others(2459): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312108 | A | AGCCTCAT others(2435): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0063 | 1 | 344 | 0.0029 | 2442 | c.327 others(2459): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294398 | A | ACAGCCAC others(2435): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 404 | 0.0025 | 2442 | c.340 others(2459): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ARHGAP26_chr5_142765377_143234007 | 143158448 | T | TAGAAACT others(2436): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 198 | 0.0051 | 2443 | c.198 others(2464): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2436): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 410 | 0.0024 | 2443 | c.213 others(2460): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(2436): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 396 | 0.0025 | 2443 | c.218 others(2460): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276306 | T | TGTGTGTG others(2436): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 390 | 0.0026 | 2443 | c.972 others(2456): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 253176 | C | CAAGAGAG others(2436): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 450 | 0.0022 | 2443 | c.*57 others(2452): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 193 | chr11 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917211 | A | ACGGGGGT others(2436): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0116 | 1 | 344 | 0.0029 | 2443 | c.218 others(2460): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758654 | G | GACCACCT others(2437): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0253 a0002c0002t0001g0254 |
2 | 300 | 0.0067 | 2444 | c.654 others(2463): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2437): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 410 | 0.0024 | 2444 | c.213 others(2461): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2437): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0117 a0001c0002t0002g0007 |
2 | 175 | 0.0114 | 2444 | c.164 others(2463): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KCND3_chr1_111765662_111994668 | 111797839 | T | TCCAGTGA others(2437): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0200 | 1 | 226 | 0.0044 | 2444 | c.110 others(2465): Show |
KCND3 | ENSG00000171385.11 | transcript | ENST00000302127.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981349 | A | ATGGTGAT others(2437): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0065 | 1 | 380 | 0.0026 | 2444 | c.255 others(2463): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2437): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0167 | 1 | 190 | 0.0053 | 2444 | c.719 others(2463): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2437): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 190 | 0.0053 | 2444 | c.719 others(2463): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217692395 | A | AGACGATG others(2437): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 252 | 0.0040 | 2444 | c.395 others(2461): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2437): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0273 | 1 | 326 | 0.0031 | 2444 | c.*56 others(2455): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2437): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0272 a0001c0002t0006g0277 |
2 | 326 | 0.0061 | 2444 | c.*56 others(2455): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2438): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 301 | 0.0033 | 2445 | c.-11 others(2456): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2438): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 301 | 0.0033 | 2445 | c.-11 others(2456): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952366 | T | TGGGGGGG others(2438): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 242 | 0.0041 | 2445 | c.360 others(2464): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2438): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 433 | 0.0023 | 2445 | c.-16 others(2456): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(2439): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0100 | 1 | 398 | 0.0025 | 2446 | c.666 others(2461): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322418 | C | CTCCAGTG others(2439): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0011 | 1 | 88 | 0.0114 | 2446 | c.392 others(2465): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154063618 | A | ACGAGGCA others(2439): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02280.hp2 |
a0002 | a0002c0012a0002c0022 | a0002c0012t0021a0002c0022t0023 | a0002c0012t0021g0035 a0002c0022t0023g0027 |
2 | 38 | 0.0526 | 2446 | c.243 others(2465): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045986 | C | CTCCTCCA others(2440): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0092 | 1 | 390 | 0.0026 | 2447 | c.109 others(2462): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181046045 | T | TTCCTCCA others(2440): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0087 | 1 | 390 | 0.0026 | 2447 | c.109 others(2462): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(2440): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0043 | 1 | 230 | 0.0044 | 2447 | c.724 others(2466): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2440): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 68 | 0.0147 | 2447 | c.61+ others(2466): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502730 | G | GGGGGCGG others(2440): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0018 | a0018c0036 | a0018c0036t0001 | a0018c0036t0001g0051 | 1 | 188 | 0.0053 | 2447 | c.147 others(2466): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502737 | C | CGGGGGGG others(2440): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0187 | 1 | 188 | 0.0053 | 2447 | c.147 others(2466): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 415532 | T | TCTCCCTG others(2441): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0004 | a0003c0004t0012 | a0003c0004t0012g0195 | 1 | 268 | 0.0037 | 2448 | c.441 others(2465): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154063618 | A | ACGAGGCA others(2441): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0034 | 1 | 38 | 0.0263 | 2448 | c.243 others(2467): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2441): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 301 | 0.0033 | 2448 | c.-11 others(2459): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877511 | C | CTCACCGC others(2441): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0077 | 1 | 292 | 0.0034 | 2448 | c.220 others(2467): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |