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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(1055): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 302 | 0.0033 | 1062 | c.513 others(1079): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TACACATA others(1055): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 105 | 0.0381 | 1062 | c.*19 others(1073): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | |||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TACACATA others(1055): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02965.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 122 | 0.0410 | 1062 | c.*19 others(1073): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478084 | G | GAGGGGAA others(1055): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0022 | a0001c0022t0003 | a0001c0022t0003g0002 | 1 | 88 | 0.0114 | 1062 | c.158 others(1079): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1055): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0048 | a0048c0106 | a0048c0106t0001 | a0048c0106t0001g0103 | 1 | 98 | 0.0102 | 1062 | c.118 others(1081): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1055): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 96 | 0.0104 | 1062 | c.119 others(1081): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1055): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 a0001c0001t0002g0305 |
2 | 97 | 0.0206 | 1062 | c.119 others(1081): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(1055): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 12 | 0.0833 | 1062 | c.*28 others(1073): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1055): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 174 | 0.0057 | 1062 | c.-25 others(1079): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(1055): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 78 | 0.0256 | 1062 | c.968 others(1077): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1360946 | C | CCTCTCTG others(1055): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0088 | 1 | 67 | 0.0149 | 1062 | c.759 others(1079): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1055): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 13 | 0.0769 | 1062 | c.978 others(1079): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 950204 | T | TGACAGTC others(1055): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0274 | 1 | 291 | 0.0034 | 1062 | c.503 others(1079): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1055): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 170 | 0.0059 | 1062 | c.-30 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 337 | 0.0030 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02647.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 339 | 0.0088 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG03710.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 339 | 0.0088 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 337 | 0.0030 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583558 | G | GCAGCCAC others(1055): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0060 | 1 | 174 | 0.0057 | 1062 | c.377 others(1079): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877016 | T | TAGGGAGG others(1055): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0152 | 1 | 241 | 0.0041 | 1062 | c.224 others(1081): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1055): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 254 | 0.0039 | 1062 | c.949 others(1077): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1055): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 254 | 0.0039 | 1062 | c.949 others(1077): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1055): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0060 | 1 | 245 | 0.0041 | 1062 | c.176 others(1081): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGG others(1055): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 235 | 0.0043 | 1062 | c.126 others(1081): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099624 | C | CCCCCCCA others(1055): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 62 | 0.0161 | 1062 | c.56- others(1079): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80743929 | C | CCCTGGCT others(1055): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0037 | a0001c0037t0004 | a0001c0037t0004g0145 | 1 | 170 | 0.0059 | 1062 | c.655 others(1081): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744677 | T | TAGCACTG others(1055): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0061 | 1 | 152 | 0.0066 | 1062 | c.655 others(1079): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1055): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0195 | 1 | 259 | 0.0039 | 1062 | c.101 others(1081): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747269 | G | GCTGGGGT others(1055): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0024 | 1 | 299 | 0.0033 | 1062 | c.189 others(1079): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(1055): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0223 | 1 | 126 | 0.0079 | 1062 | c.*54 others(1073): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437337 | C | CCACCCCT others(1055): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0001 | 1 | 213 | 0.0047 | 1062 | c.141 others(1081): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1056): Show |
intron_variant | MODIFIER | HG03491.hp2 HG04199.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0003 | a0001c0002t0003g0142 a0002c0001t0003g0136 |
2 | 73 | 0.0274 | 1063 | c.273 others(1080): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1056): Show |
intron_variant | MODIFIER | HG03139.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0003a0001c0012t0003 | a0001c0002t0003g0188 a0001c0012t0003g0033 |
2 | 73 | 0.0274 | 1063 | c.273 others(1080): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1056): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0139 |
3 | 154 | 0.0195 | 1063 | c.217 others(1082): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1056): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 219 | 0.0046 | 1063 | c.327 others(1080): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(1056): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 157 | 0.0064 | 1063 | c.193 others(1080): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(1056): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 195 | 0.0051 | 1063 | c.-42 others(1074): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478090 | A | AAAAGAAG others(1056): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076 | 1 | 86 | 0.0116 | 1063 | c.158 others(1080): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(1056): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0056 | a0056c0096 | a0056c0096t0001 | a0056c0096t0001g0046 | 1 | 241 | 0.0041 | 1063 | c.118 others(1082): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574411 | G | GGCAGCAC others(1056): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0051 | 1 | 408 | 0.0025 | 1063 | c.119 others(1082): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1056): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 328 | 0.0030 | 1063 | c.*14 others(1074): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1056): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0005 | 1 | 13 | 0.0769 | 1063 | c.978 others(1080): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1056): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0126 | 1 | 124 | 0.0081 | 1063 | c.*65 others(1074): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1056): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0083 | a0001c0001t0026g0015 a0001c0001t0083g0042 |
2 | 125 | 0.0160 | 1063 | c.*65 others(1074): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1056): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 32 | 0.0313 | 1063 | c.218 others(1078): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1056): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 4 | 0.2500 | 1063 | c.279 others(1078): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
PDE3B_chr11_14638804_14877044 | 14841725 | A | ACACCTTC others(1056): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(72): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(71): Show |
75 | 169 | 0.4438 | 1063 | c.232 others(1082): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14841725 | A | ACACCTTC others(1056): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0182 | 1 | 95 | 0.0105 | 1063 | c.232 others(1082): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14841725 | A | ACACCTTC others(1056): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00735.hp1 others(53): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0019 others(53): Show |
56 | 150 | 0.3733 | 1063 | c.232 others(1082): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14841725 | A | ACACCTTC others(1056): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(99): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(99): Show |
102 | 196 | 0.5204 | 1063 | c.232 others(1082): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |