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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(878): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19082.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0101 a0002c0002t0002g0209 |
2 | 6 | 0.3333 | 885 | c.-41 others(900): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(878): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 5 | 0.2000 | 885 | c.-41 others(900): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(878): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 5 | 0.2000 | 885 | c.-41 others(900): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507010 | T | TGTAGGGG others(878): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0227 |
2 | 227 | 0.0088 | 885 | c.624 others(902): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0139 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0147 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0144 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(878): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 125 | 0.0080 | 885 | c.-49 others(896): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(878): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0198 | 1 | 242 | 0.0041 | 885 | c.-5+ others(900): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(878): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG02148.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 others(7): Show |
10 | 251 | 0.0398 | 885 | c.-5+ others(900): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(878): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 295 | 0.0034 | 885 | c.-5+ others(900): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(878): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19002.hp2 NA19063.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(1): Show |
4 | 298 | 0.0134 | 885 | c.-5+ others(900): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775965 | C | CCATACCT others(878): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0162 a0004c0005t0002g0175 |
2 | 226 | 0.0088 | 885 | c.129 others(906): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2219901 | T | TCAAGTGC others(878): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03098.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0025 | a0001c0002t0002a0001c0025t0017 | a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0025t0017g0064 |
3 | 99 | 0.0303 | 885 | c.-42 others(906): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132150668 | G | GCTCACAC others(878): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 216 | 0.0046 | 885 | c.902 others(900): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133082514 | C | CTCCCCTC others(878): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 46 | 0.0217 | 885 | c.62- others(904): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133082572 | T | TCCTCCTC others(878): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 31 | 0.0323 | 885 | c.62- others(904): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
PRRG1_chrX_37344364_37462291 | 37383312 | T | TGGATCAA others(878): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 212 | 0.0047 | 885 | c.-41 others(904): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114099909 | A | ACCCCACA others(878): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 34 | 0.0294 | 885 | c.56- others(902): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289606 | T | TCTGCTCC others(878): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0206 | 1 | 271 | 0.0037 | 885 | c.166 others(902): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873397 | A | ATCCTATC others(878): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18960.hp1 |
a0001 | a0001c0009a0001c0010 | a0001c0009t0002a0001c0010t0001 | a0001c0009t0002g0354 a0001c0010t0001g0351 |
2 | 357 | 0.0056 | 885 | c.757 others(902): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(878): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0018 | a0002c0018t0019 | a0002c0018t0019g0126 | 1 | 2 | 0.5000 | 885 | c.227 others(904): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SPADH_chr10_122667850_122684494 | 122681692 | G | GTGTGTGA others(878): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG03130.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0050 |
4 | 390 | 0.0103 | 885 | c.*26 others(896): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 2199 | chr10 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(878): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0037 | a0037c0043 | a0037c0043t0001 | a0037c0043t0001g0223 | 1 | 94 | 0.0106 | 885 | c.266 others(902): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(878): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0209 | 1 | 94 | 0.0106 | 885 | c.266 others(902): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(878): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0023a0043 | a0023c0028a0043c0026 | a0023c0028t0001a0043c0026t0001 | a0023c0028t0001g0257 a0043c0026t0001g0256 |
2 | 95 | 0.0211 | 885 | c.266 others(902): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(878): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18974.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 a0001c0002t0001g0075 |
2 | 95 | 0.0211 | 885 | c.266 others(902): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(878): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(27): Show |
a0001a0004a0009others(2): Show | a0001c0002a0004c0005a0004c0012others(3): Show | a0001c0002t0001a0004c0005t0001a0004c0012t0001others(3): Show | a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0048 others(27): Show |
30 | 123 | 0.2439 | 885 | c.266 others(902): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(878): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0237 | 1 | 94 | 0.0106 | 885 | c.266 others(902): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(878): Show |
intron_variant | MODIFIER | HG03654.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0125 |
2 | 4 | 0.5000 | 885 | c.597 others(902): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(878): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021 | a0001c0001t0012g0120 a0001c0001t0021g0157 |
2 | 4 | 0.5000 | 885 | c.597 others(902): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(878): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 349 | 0.0029 | 885 | c.157 others(904): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870316 | C | CACCACAC others(878): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 229 | 0.0044 | 885 | c.*35 others(904): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(878): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0144 | 1 | 455 | 0.0022 | 885 | c.-6- others(900): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(878): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0030 | 1 | 2 | 0.5000 | 885 | c.*53 others(896): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(878): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0105 | 1 | 2 | 0.5000 | 885 | c.*53 others(896): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(878): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 2 | 0.5000 | 885 | c.*53 others(896): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(878): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0088 | 1 | 2 | 0.5000 | 885 | c.*53 others(896): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(878): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 1 | 2 | 0.5000 | 885 | c.*53 others(896): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(878): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 2 | 0.5000 | 885 | c.*53 others(896): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(879): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0116 | 1 | 112 | 0.0089 | 886 | c.48- others(903): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(879): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 112 | 0.0089 | 886 | c.48- others(903): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar |