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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2441): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp1 | a0101 | a0101c0124 | a0101c0124t0001 | a0101c0124t0001g0183 | 1 | 249 | 0.0040 | 2448 | c.390 others(2457): Show |
p.Thr others(2463): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
SDK1_chr7_3296252_4274000 | 3976544 | A | AGGGTCCC others(2441): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0031 | a0002c0031t0034 | a0002c0031t0034g0083 | 1 | 116 | 0.0086 | 2448 | c.199 others(2467): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(2441): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0115 | 1 | 376 | 0.0027 | 2448 | c.101 others(2467): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432111 | T | TAGGGTGG others(2441): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0328 | 1 | 376 | 0.0027 | 2448 | c.101 others(2465): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(2441): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0153 | 1 | 167 | 0.0060 | 2448 | c.*53 others(2459): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2442): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0198 | 1 | 298 | 0.0034 | 2449 | c.126 others(2466): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGGCG others(2442): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 375 | 0.0027 | 2449 | c.-20 others(2460): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2442): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 294 | 0.0034 | 2449 | c.153 others(2468): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2442): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0033 | a0033c0023 | a0033c0023t0034 | a0033c0023t0034g0272 | 1 | 292 | 0.0034 | 2449 | c.218 others(2464): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2442): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0173 | 1 | 326 | 0.0031 | 2449 | c.*56 others(2460): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130424995 | T | TAAAAATA others(2443): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 a0001c0001t0009g0008 |
2 | 308 | 0.0065 | 2450 | c.-28 others(2469): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222488 | G | GCGGCGCA others(2443): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0096 | 1 | 190 | 0.0053 | 2450 | c.719 others(2469): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222507 | C | CGTCTCCC others(2443): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 190 | 0.0053 | 2450 | c.719 others(2469): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222717 | C | CGTCTCCC others(2443): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0060 | 1 | 190 | 0.0053 | 2450 | c.719 others(2469): 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(2443): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0093 | 1 | 252 | 0.0040 | 2450 | c.395 others(2467): 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(2443): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0018 | 1 | 326 | 0.0031 | 2450 | c.*56 others(2461): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2443): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01993.hp1 HG02004.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0018 a0001c0002t0005g0172 a0001c0002t0005g0176 others(2): Show |
5 | 326 | 0.0153 | 2450 | c.*56 others(2461): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130424995 | T | TAAAAATA others(2444): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0007 | 1 | 308 | 0.0033 | 2451 | c.-28 others(2470): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130424995 | T | TAAAAATA others(2444): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0006 | 1 | 308 | 0.0033 | 2451 | c.-28 others(2470): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 62001934 | A | AGACAAGT others(2444): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 168 | 0.0060 | 2451 | c.252 others(2470): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(2444): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0103 | 1 | 174 | 0.0058 | 2451 | c.193 others(2470): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2444): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2451 | c.*44 others(2462): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2444): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2451 | c.*44 others(2462): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325069 | C | CGGGGGGC others(2444): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0001 | 1 | 150 | 0.0067 | 2451 | c.531 others(2468): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217692395 | A | AGACGATG others(2444): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0090 a0001c0001t0005g0089 |
2 | 252 | 0.0079 | 2451 | c.395 others(2468): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2444): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 399 | 0.0025 | 2451 | c.*19 others(2462): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2444): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0175 | 1 | 326 | 0.0031 | 2451 | c.*56 others(2462): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
ZNF420_chr19_37073433_37135368 | 37134671 | T | TAAGTGGG others(2444): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0178 | 1 | 326 | 0.0031 | 2451 | c.*56 others(2462): Show |
ZNF420 | ENSG00000197050.11 | transcript | ENST00000337995.4 | protein_coding | 4304 | chr19 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1433052 | A | AGGTTTTG others(2445): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0223 | 1 | 360 | 0.0028 | 2452 | c.92- others(2467): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2445): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0187 | 1 | 298 | 0.0034 | 2452 | c.126 others(2469): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCCT others(2445): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0226 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0221 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0139 a0001c0001t0028g0138 |
2 | 242 | 0.0083 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG02056.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0010 | a0001c0001t0010g0027 a0001c0001t0010g0063 a0002c0003t0010g0237 others(2): Show |
5 | 242 | 0.0207 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0206 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0012 others(47): Show |
51 | 242 | 0.2107 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0156 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(29): Show |
32 | 242 | 0.1322 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0132 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
DTWD2_chr5_118831074_118993547 | 118864070 | A | AGTTTCTT others(2445): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0225 | 1 | 242 | 0.0041 | 2452 | c.598 others(2471): Show |
DTWD2 | ENSG00000169570.10 | transcript | ENST00000510708.6 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2445): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 116 | 0.0086 | 2452 | c.522 others(2469): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2445): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 116 | 0.0086 | 2452 | c.522 others(2469): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2445): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0033 | 1 | 56 | 0.0179 | 2452 | c.135 others(2469): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2445): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 399 | 0.0025 | 2452 | c.*19 others(2463): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(2446): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 410 | 0.0024 | 2453 | c.213 others(2470): 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(2446): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0072a0001c0001t0073 | a0001c0001t0072g0344 a0001c0001t0073g0343 |
2 | 410 | 0.0049 | 2453 | c.213 others(2470): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2446): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 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 | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2446): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 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 |