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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2446): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 | 1 | 116 | 0.0086 | 2453 | c.522 others(2470): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2446): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 272 | 0.0037 | 2453 | c.-12 others(2474): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSMD13_chr11_231976_257984 | 253176 | C | CAAGAGAG others(2446): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 450 | 0.0022 | 2453 | c.*57 others(2462): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 193 | chr11 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2446): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0074 | 1 | 250 | 0.0040 | 2453 | c.-22 others(2472): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2446): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 399 | 0.0025 | 2453 | c.*19 others(2464): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2446): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0174 | 1 | 326 | 0.0031 | 2453 | c.*56 others(2464): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2447): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 334 | 0.0030 | 2454 | c.147 others(2471): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2447): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0354 | 1 | 410 | 0.0024 | 2454 | c.213 others(2471): 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(2447): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0379 | 1 | 410 | 0.0024 | 2454 | c.213 others(2471): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CD226_chr18_69848274_69952873 | 69865431 | T | TTCAAAAT others(2447): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123 | 1 | 256 | 0.0039 | 2454 | c.886 others(2469): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2447): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0021 | 1 | 298 | 0.0034 | 2454 | c.126 others(2471): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706325 | G | GATAGATA others(2447): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 292 | 0.0034 | 2454 | c.228 others(2471): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2447): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0149 | 1 | 292 | 0.0034 | 2454 | c.218 others(2469): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2447): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0004 | a0002c0004t0023 | a0002c0004t0023g0271 | 1 | 272 | 0.0037 | 2454 | c.-12 others(2475): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2447): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 NA18961.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 375 | 0.0080 | 2454 | c.*44 others(2465): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2447): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 375 | 0.0053 | 2454 | c.*44 others(2465): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2447): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2454 | c.*44 others(2465): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(2447): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0241 | 1 | 314 | 0.0032 | 2454 | c.189 others(2471): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2448): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0355 | 1 | 410 | 0.0024 | 2455 | c.213 others(2472): 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(2448): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18982.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0039 | a0002c0002t0001g0371 a0002c0002t0039g0350 |
2 | 410 | 0.0049 | 2455 | c.213 others(2472): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CD226_chr18_69848274_69952873 | 69865431 | T | TTCAAAAT others(2448): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 NA18956.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0043a0001c0001t0136others(1): Show | a0001c0001t0004g0113 a0001c0001t0004g0116 a0001c0001t0004g0230 others(6): Show |
9 | 256 | 0.0352 | 2455 | c.886 others(2470): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
CD226_chr18_69848274_69952873 | 69865431 | T | TTCAAAAT others(2448): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0137 | a0001c0001t0137g0208 | 1 | 256 | 0.0039 | 2455 | c.886 others(2470): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2448): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0055 | a0055c0126 | a0055c0126t0001 | a0055c0126t0001g0078 | 1 | 186 | 0.0054 | 2455 | c.956 others(2472): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
PSMD13_chr11_231976_257984 | 253176 | C | CAAGAGAG others(2448): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 450 | 0.0022 | 2455 | c.*57 others(2464): Show |
PSMD13 | ENSG00000185627.19 | transcript | ENST00000532097.6 | protein_coding | 193 | chr11 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64547512 | A | ATTTTTTT others(2449): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 286 | 0.0035 | 2456 | c.487 others(2473): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 31/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64548742 | T | TGTTGACT others(2449): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0240 | 1 | 286 | 0.0035 | 2456 | c.487 others(2475): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 31/39 | chr3 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2449): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG02027.hp1 others(15): Show |
a0002 | a0002c0002a0002c0015 | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(9): Show | a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0361 others(15): Show |
18 | 410 | 0.0439 | 2456 | c.213 others(2473): 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(2449): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0074 | a0001c0006t0074g0396 | 1 | 410 | 0.0024 | 2456 | c.213 others(2473): 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(2449): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 410 | 0.0024 | 2456 | c.213 others(2473): 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(2449): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0084 | 1 | 410 | 0.0024 | 2456 | c.213 others(2473): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315642 | C | CCCCATCC others(2449): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0124 | 1 | 250 | 0.0040 | 2456 | c.259 others(2475): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2449): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0075 | 1 | 250 | 0.0040 | 2456 | c.-22 others(2475): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64547512 | A | ATTTTTTT others(2450): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02083.hp1 others(7): Show |
a0001a0010a0026 | a0001c0001a0001c0014a0010c0021others(1): Show | a0001c0001t0002a0001c0014t0002a0010c0021t0002others(1): Show | a0001c0001t0002g0100 a0001c0001t0002g0162 a0001c0001t0002g0170 others(7): Show |
10 | 286 | 0.0350 | 2457 | c.487 others(2474): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 31/39 | chr3 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2450): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0274 | 1 | 418 | 0.0024 | 2457 | c.96+ others(2472): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2450): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0151 | 1 | 418 | 0.0024 | 2457 | c.96+ others(2472): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654114 | A | ATCCTCAC others(2450): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0321 | 1 | 394 | 0.0025 | 2457 | c.-52 others(2474): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654492 | G | GTCCTCAC others(2450): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0303 | 1 | 394 | 0.0025 | 2457 | c.-52 others(2474): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2450): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02257.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0013a0001c0001t0017others(1): Show | a0001c0001t0010g0401 a0001c0001t0010g0402 a0001c0001t0013g0399 others(2): Show |
5 | 410 | 0.0122 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0002 | a0002c0002t0088 | a0002c0002t0088g0290 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0170 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0171 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0235 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0378 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01884.hp1 HG02257.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0009others(4): Show | a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 others(9): Show |
12 | 410 | 0.0293 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19067.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0368 a0002c0002t0001g0388 |
2 | 410 | 0.0049 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0083 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0005 | a0005c0007 | a0005c0007t0090 | a0005c0007t0090g0085 | 1 | 410 | 0.0024 | 2457 | c.213 others(2474): 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(2450): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02809.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0025a0001c0001t0098a0002c0002t0023 | a0001c0001t0025g0119 a0001c0001t0098g0086 a0002c0002t0023g0393 |
3 | 410 | 0.0073 | 2457 | c.213 others(2474): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |