regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1199): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0045 | a0045c0084 | a0045c0084t0006 | a0045c0084t0006g0087 | 1 | 134 | 0.0075 | 1206 | c.575 others(1227): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 254413 | G | GGGACTAC others(1199): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 133 | 0.0075 | 1206 | c.439 others(1223): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 257595 | T | TGCACGGC others(1199): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0118 | 1 | 133 | 0.0075 | 1206 | c.439 others(1225): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744469 | C | CCCTGGCT others(1199): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 196 | 0.0051 | 1206 | c.655 others(1223): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0131 | 1 | 204 | 0.0049 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01169.hp1 others(19): Show |
a0001a0002a0005others(3): Show | a0001c0005a0001c0006a0001c0008others(12): Show | a0001c0005t0001a0001c0006t0018a0001c0008t0005others(19): Show | a0001c0005t0001g0050a0001c0006t0018g0109a0001c0008t0005g0134others(19): Show | 22 | 204 | 0.1078 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01167.hp2 others(14): Show |
a0001a0003a0009others(2): Show | a0001c0016a0003c0009a0003c0017others(7): Show | a0001c0016t0026a0003c0009t0002a0003c0009t0003others(13): Show | a0001c0016t0026g0126a0003c0009t0002g0088a0003c0009t0002g0199others(14): Show | 17 | 204 | 0.0833 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0025 | a0025c0057 | a0025c0057t0003 | a0025c0057t0003g0171 | 1 | 204 | 0.0049 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01175.hp2 others(13): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0003a0001c0043others(9): Show | a0001c0002t0001a0001c0002t0014a0001c0002t0096others(12): Show | a0001c0002t0001g0112a0001c0002t0014g0097a0001c0002t0096g0123others(13): Show | 16 | 204 | 0.0784 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0177 | 1 | 204 | 0.0049 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73405200 | G | GGGGAGGC others(1199): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0068 | a0001c0002t0010a0001c0005t0048a0001c0005t0050others(1): Show | a0001c0002t0010g0181a0001c0005t0048g0145a0001c0005t0050g0032others(1): Show | 4 | 204 | 0.0196 | 1206 | c.248 others(1225): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 18/44 | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1199): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0092 | 1 | 376 | 0.0027 | 1206 | c.101 others(1225): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431841 | T | TAGGGTGG others(1199): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 376 | 0.0027 | 1206 | c.101 others(1225): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(1199): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0361 | 1 | 376 | 0.0027 | 1206 | c.101 others(1223): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302096 | A | ATTTCTAA others(1199): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0278 | 1 | 350 | 0.0029 | 1206 | c.440 others(1223): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1199): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0007a0003c0005t0007 | a0001c0001t0007g0259a0003c0005t0007g0191 | 2 | 324 | 0.0062 | 1206 | c.857 others(1223): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1199): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 324 | 0.0031 | 1206 | c.857 others(1223): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1199): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0058a0001c0001t0001g0103a0001c0001t0002g0203others(25): Show | 28 | 324 | 0.0864 | 1206 | c.857 others(1223): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1199): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp2 others(35): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0045a0001c0001t0001g0077a0001c0001t0001g0078others(35): Show | 38 | 324 | 0.1173 | 1206 | c.857 others(1223): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1199): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 324 | 0.0031 | 1206 | c.857 others(1223): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747411 | G | GCACTGGG others(1199): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049a0001c0001t0006g0050 | 2 | 314 | 0.0064 | 1206 | c.189 others(1221): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTTCG others(1199): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0271 | 1 | 344 | 0.0029 | 1206 | c.218 others(1223): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CDA_chr1_20584097_20623903 | 20605971 | T | TGGGTTTA others(1200): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 418 | 0.0024 | 1207 | c.266 others(1224): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1200): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 258 | 0.0039 | 1207 | c.403 others(1222): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1200): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 258 | 0.0078 | 1207 | c.403 others(1222): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1200): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 258 | 0.0039 | 1207 | c.403 others(1222): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1200): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 258 | 0.0039 | 1207 | c.403 others(1222): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1200): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 258 | 0.0039 | 1207 | c.403 others(1222): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1200): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 116 | 0.0086 | 1207 | c.-52 others(1228): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1200): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0115a0001c0001t0014g0095 | 2 | 116 | 0.0172 | 1207 | c.-52 others(1228): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1200): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0084 | 1 | 116 | 0.0086 | 1207 | c.-52 others(1228): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1200): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0122 | 1 | 208 | 0.0048 | 1207 | c.192 others(1226): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1200): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 230 | 0.0044 | 1207 | c.724 others(1226): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1200): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01106.hp2 others(9): Show |
a0001a0004a0008others(4): Show | a0001c0010a0001c0016a0001c0018others(7): Show | a0001c0010t0003a0001c0016t0001a0001c0018t0003others(8): Show | a0001c0010t0003g0262a0001c0016t0001g0184a0001c0016t0001g0185others(9): Show | 12 | 316 | 0.0380 | 1207 | c.*49 others(1218): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1200): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 316 | 0.0032 | 1207 | c.*49 others(1218): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1200): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0029 | a0029c0039 | a0029c0039t0003 | a0029c0039t0003g0273 | 1 | 316 | 0.0032 | 1207 | c.*49 others(1218): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838437 | G | GCGCCGGG others(1200): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0004 | a0004c0108 | a0004c0108t0003 | a0004c0108t0003g0287 | 1 | 316 | 0.0032 | 1207 | c.*49 others(1218): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4696 | chr17 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328244 | C | CACGATGA others(1200): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01256.hp2 |
a0007a0015 | a0007c0010a0015c0028 | a0007c0010t0001a0015c0028t0001 | a0007c0010t0001g0021a0007c0010t0001g0079a0015c0028t0001g0080 | 3 | 82 | 0.0366 | 1207 | c.199 others(1226): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328271 | A | ACCTACAT others(1200): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01258.hp2 HG02257.hp1 others(4): Show |
a0005a0006a0008others(3): Show | a0005c0005a0006c0004a0008c0020others(3): Show | a0005c0005t0001a0006c0004t0001a0008c0020t0001others(3): Show | a0005c0005t0001g0018a0005c0005t0001g0066a0006c0004t0001g0058others(4): Show | 7 | 82 | 0.0854 | 1207 | c.199 others(1226): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1200): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0395 | 1 | 418 | 0.0024 | 1207 | c.119 others(1226): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCAACACC others(1200): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 1207 | c.*28 others(1218): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1200): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0061 | 1 | 388 | 0.0026 | 1207 | c.-38 others(1226): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1200): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01123.hp2 others(23): Show |
a0001a0002a0007others(5): Show | a0001c0016a0002c0003a0007c0009others(5): Show | a0001c0016t0001a0002c0003t0001a0002c0003t0002others(6): Show | a0001c0016t0001g0049a0002c0003t0001g0001a0002c0003t0001g0015others(16): Show | 26 | 388 | 0.0670 | 1207 | c.-38 others(1226): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1200): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 388 | 0.0026 | 1207 | c.-38 others(1226): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1200): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0245 | 1 | 388 | 0.0026 | 1207 | c.-38 others(1226): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KDM6B_chr17_7829217_7859796 | 7838437 | G | GCGCCGGG others(1200): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0089 | 1 | 388 | 0.0026 | 1207 | c.-38 others(1226): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
KMT5B_chr11_68149863_68218296 | 68207790 | C | CAAAAAAA others(1200): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 2 | 328 | 0.0061 | 1207 | c.-77 others(1224): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
KMT5B_chr11_68149863_68218296 | 68207790 | C | CAAAAAAA others(1200): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0223a0001c0001t0018g0224 | 2 | 328 | 0.0061 | 1207 | c.-77 others(1224): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120429 | G | GGGAGAGG others(1200): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0009 | a0009c0016 | a0009c0016t0012 | a0009c0016t0012g0328 | 1 | 368 | 0.0027 | 1207 | c.353 others(1222): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471546 | T | TATGTATA others(1200): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 260 | 0.0039 | 1207 | c.125 others(1224): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar |