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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRT18_chr12_52944118_52957906 | 52953837 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 406 | 0.0049 | 15 | c.*99 others(24): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 932 | chr12 | TogoVar | |||||||
KRT23_chr17_40917700_40942646 | 40942296 | C | CCCCCCTC others(8): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0183 | 1 | 437 | 0.0023 | 15 | c.-53 others(26): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 4651 | chr17 | TogoVar | |||||||
KRT23_chr17_40917700_40942646 | 40942377 | T | TCCTCCTC others(8): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 NA18995.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0107 a0002c0002t0001g0165 |
2 | 437 | 0.0046 | 15 | c.-53 others(26): Show |
KRT23 | ENSG00000108244.17 | transcript | ENST00000209718.8 | protein_coding | 4732 | chr17 | TogoVar | |||||||
KRT34_chr17_41372669_41387306 | 41377297 | A | ACAGTTTC others(8): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 NA18973.hp1 NA18990.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 451 | 0.0155 | 15 | c.*76 others(24): Show |
KRT34 | ENSG00000131737.7 | transcript | ENST00000394001.3 | protein_coding | 371 | chr17 | TogoVar | |||||||
KRT36_chr17_41481136_41494910 | 41490825 | T | TGGTTAGG others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02647.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0038 a0003c0004t0001g0007 |
4 | 466 | 0.0086 | 15 | c.-97 others(24): Show |
KRT36 | ENSG00000126337.14 | transcript | ENST00000328119.11 | protein_coding | 916 | chr17 | TogoVar | |||||||
KRT3_chr12_52784685_52801117 | 52786009 | A | AGATAGAT others(8): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0022 | 1 | 454 | 0.0022 | 15 | c.*40 others(26): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 3675 | chr12 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40984860 | A | AGTTGTGT others(8): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG03225.hp1 others(2): Show |
a0004 | a0004c0005a0004c0007 | a0004c0005t0002a0004c0007t0002 | a0004c0005t0002g0062 a0004c0005t0002g0063 a0004c0005t0002g0064 others(1): Show |
5 | 451 | 0.0111 | 15 | c.-58 others(24): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 535 | chr17 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52403272 | G | GGAGCAGA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 370 | 0.0027 | 15 | c.620 others(30): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
KRT83_chr12_52309301_52326398 | 52316285 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0067 | 1 | 428 | 0.0023 | 15 | c.104 others(32): Show |
KRT83 | ENSG00000170523.3 | transcript | ENST00000293670.3 | protein_coding | 6/8 | chr12 | TogoVar | |||||||
KRTAP10-12_chr21_44692172_44703044 | 44697320 | C | CCTGCTGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp2 NA19030.hp2 |
a0005 | a0005c0011a0005c0012 | a0005c0011t0001a0005c0012t0001 | a0005c0011t0001g0000 a0005c0012t0001g0000 |
2 | 446 | 0.0045 | 15 | c.131 others(22): Show |
p.Pro others(26): Show |
KRTAP10-12 | ENSG00000189169.8 | transcript | ENST00000400365.3 | protein_coding | 1/1 | 162/873 | 132/738 | 44/245 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP10-12_chr21_44692172_44703044 | 44702879 | A | AGTACACA others(8): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0000 a0001c0006t0001g0000 |
3 | 446 | 0.0067 | 15 | c.*49 others(26): Show |
KRTAP10-12 | ENSG00000189169.8 | transcript | ENST00000400365.3 | protein_coding | 4836 | chr21 | TogoVar | |||||||
KRTAP10-12_chr21_44692172_44703044 | 44703010 | A | AGGGCCCC others(8): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | 15 | c.*50 others(26): Show |
KRTAP10-12 | ENSG00000189169.8 | transcript | ENST00000400365.3 | protein_coding | 4967 | chr21 | TogoVar | |||||||
KRTAP10-6_chr21_44586268_44597505 | 44591798 | G | GCAGCAGA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02148.hp1 | a0002 | a0002c0047 | a0002c0047t0002 | a0002c0047t0002g0000 | 1 | 428 | 0.0023 | 15 | c.686 others(22): Show |
p.Cys others(28): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 707/1238 | 686/1098 | 229/365 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44592338 | C | CGGGGCGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0006others(20): Show | a0001c0001a0001c0017a0001c0026others(42): Show | a0001c0001t0001a0001c0017t0001a0001c0026t0001others(44): Show | a0001c0001t0001g0000 a0001c0017t0001g0000 a0001c0026t0001g0000 others(44): Show |
289 | 428 | 0.6752 | 15 | c.146 others(22): Show |
p.Pro others(26): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 167/1238 | 146/1098 | 49/365 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44592344 | G | GCAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp1 HG02622.hp2 HG02717.hp1 others(4): Show |
a0014a0018 | a0014c0028a0014c0068a0018c0022 | a0014c0028t0002a0014c0068t0002a0018c0022t0002others(1): Show | a0014c0028t0002g0000 a0014c0068t0002g0000 a0018c0022t0002g0000 others(1): Show |
7 | 428 | 0.0164 | 15 | c.140 others(22): Show |
p.Cys others(26): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 161/1238 | 140/1098 | 47/365 | chr21 | TogoVar | |||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TCTCTCTC others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0000 a0001c0011t0001g0000 |
4 | 446 | 0.0090 | 15 | c.-14 others(26): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | |||||||
KRTAP10-7_chr21_44595597_44607174 | 44600755 | C | CCTGCTGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(70): Show |
a0002a0004a0006others(7): Show | a0002c0002a0002c0004a0002c0015others(18): Show | a0002c0002t0002a0002c0002t0011a0002c0004t0002others(21): Show | a0002c0002t0002g0000 a0002c0002t0011g0000 a0002c0004t0002g0000 others(21): Show |
73 | 446 | 0.1637 | 15 | c.146 others(22): Show |
p.Pro others(26): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1/1 | 172/1578 | 147/1113 | 49/370 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP16-1_chr17_41302700_41314309 | 41305691 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 HG02080.hp2 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 421 | 0.0071 | 15 | c.*20 others(26): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 2008 | chr17 | TogoVar | |||||||
KRTAP16-1_chr17_41302700_41314309 | 41307322 | G | GACAGTTA others(8): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 421 | 0.0024 | 15 | c.*37 others(24): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 377 | chr17 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41310447 | A | AAAGAAAG others(8): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 413 | 0.0024 | 15 | c.*48 others(26): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 4464 | chr17 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30565333 | C | CACTAGAT others(8): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 15 | c.-40 others(26): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 4020 | chr21 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGA others(8): Show |
conservative_inframe_insertion | MODERATE | HG02523.hp1 HG02818.hp2 |
a0001a0003 | a0001c0015a0003c0018 | a0001c0015t0002a0003c0018t0002 | a0001c0015t0002g0000 a0003c0018t0002g0000 |
2 | 411 | 0.0049 | 15 | c.324 others(22): Show |
p.Cys others(28): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(8): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(189): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(8): Show |
192 | 411 | 0.4672 | 15 | c.324 others(22): Show |
p.Cys others(28): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-3_chr17_41054240_41065114 | 41054887 | C | CGCAGGGA others(8): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 HG02818.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0000 a0002c0002t0003g0000 |
2 | 441 | 0.0045 | 15 | c.*47 others(26): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 4352 | chr17 | TogoVar | |||||||
KRTAP2-3_chr17_41054240_41065114 | 41054887 | C | CGCAGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(195): Show |
a0000a0001a0002others(5): Show | a0000c0006a0000c0013a0001c0001others(6): Show | a0000c0006t0006a0000c0013t0005a0001c0001t0001others(19): Show | a0000c0006t0006g0000 a0000c0013t0005g0000 a0001c0001t0001g0000 others(19): Show |
198 | 441 | 0.4490 | 15 | c.*47 others(26): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 4352 | chr17 | TogoVar | |||||||
KRTAP23-1_chr21_30343399_30353606 | 30348882 | T | TCTCTCTC others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01515.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 422 | 0.0071 | 15 | c.-27 others(24): Show |
KRTAP23-1 | ENSG00000186980.7 | transcript | ENST00000334160.6 | protein_coding | 277 | chr21 | TogoVar | |||||||
KRTAP24-1_chr21_30276309_30287950 | 30279860 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 452 | 0.0044 | 15 | c.*23 others(26): Show |
KRTAP24-1 | ENSG00000188694.6 | transcript | ENST00000340345.6 | protein_coding | 1448 | chr21 | TogoVar | |||||||
KRTAP4-11_chr17_41112181_41123373 | 41121825 | A | AAAGGGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02922.hp2 HG03471.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 6 | 427 | 0.0141 | 15 | c.-35 others(26): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 3453 | chr17 | TogoVar | |||||||
KRTAP4-12_chr17_41118091_41129182 | 41121825 | A | AAAGGGAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02922.hp2 HG03471.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0000 a0002c0002t0002g0000 a0003c0003t0001g0000 |
8 | 423 | 0.0189 | 15 | c.*16 others(26): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1265 | chr17 | TogoVar | |||||||
KRTAP4-3_chr17_41162231_41173221 | 41167887 | T | TGCAGCAG others(8): Show |
conservative_inframe_insertion | MODERATE | HG01109.hp1 HG02109.hp1 HG02257.hp2 others(11): Show |
a0004a0007 | a0004c0004a0007c0008 | a0004c0004t0002a0007c0008t0002 | a0004c0004t0002g0000 a0007c0008t0002g0000 |
14 | 410 | 0.0342 | 15 | c.285 others(22): Show |
p.Cys others(26): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 334/991 | 285/588 | 95/195 | chr17 | TogoVar | |||
KRTAP4-3_chr17_41162231_41173221 | 41167977 | T | TGCAGCAG others(8): Show |
conservative_inframe_insertion | MODERATE | HG01109.hp1 HG01243.hp2 HG02055.hp1 others(28): Show |
a0004a0005a0006others(1): Show | a0004c0004a0005c0006a0006c0007others(1): Show | a0004c0004t0002a0005c0006t0002a0006c0007t0002others(2): Show | a0004c0004t0002g0000 a0005c0006t0002g0000 a0006c0007t0002g0000 others(2): Show |
31 | 410 | 0.0756 | 15 | c.195 others(22): Show |
p.Cys others(26): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 244/991 | 195/588 | 65/195 | chr17 | TogoVar | |||
KRTAP4-4_chr17_41154649_41165748 | 41158576 | A | AGAAGAGG others(8): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 420 | 0.0071 | 15 | c.*16 others(26): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1072 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158576 | A | AGAGGAGG others(8): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 HG03041.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 420 | 0.0071 | 15 | c.*16 others(26): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1072 | chr17 | TogoVar | |||||||
KRTAP4-5_chr17_41143924_41154825 | 41149523 | T | TGGCAGCA others(8): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(245): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0013a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0013t0001others(12): Show | a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0013t0001g0000 others(12): Show |
248 | 402 | 0.6169 | 15 | c.244 others(22): Show |
p.Cys others(26): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 1/1 | 302/902 | 244/546 | 82/181 | chr17 | TogoVar | |||
KRTAP4-5_chr17_41143924_41154825 | 41149659 | G | GGCAGCAG others(8): Show |
conservative_inframe_insertion | MODERATE | HG01175.hp1 HG01175.hp2 HG03710.hp2 |
a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0000 | 3 | 402 | 0.0075 | 15 | c.94_ others(21): Show |
p.Cys others(26): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 1/1 | 166/902 | 108/546 | 36/181 | chr17 | TogoVar | |||
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GTGTGTGT others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 429 | 0.0023 | 15 | c.*53 others(24): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | |||||||
KRTAP9-1_chr17_41184887_41195639 | 41189922 | A | ATGCTGCA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19043.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0000 | 1 | 460 | 0.0022 | 15 | c.48_ others(20): Show |
p.Thr others(26): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 63/753 | 63/753 | 21/250 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KRTAP9-4_chr17_41244687_41255653 | 41249756 | A | ATGCTGCA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18974.hp1 NA18974.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 2 | 441 | 0.0045 | 15 | c.57_ others(20): Show |
p.Cys others(11): Show |
KRTAP9-4 | ENSG00000241595.2 | transcript | ENST00000334109.3 | protein_coding | 1/1 | 106/967 | 72/465 | 24/154 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KRTAP9-4_chr17_41244687_41255653 | 41255418 | T | TACCTGCT others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(286): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0001t0010g0000 others(6): Show |
289 | 441 | 0.6553 | 15 | c.*52 others(26): Show |
KRTAP9-4 | ENSG00000241595.2 | transcript | ENST00000334109.3 | protein_coding | 4766 | chr17 | TogoVar | |||||||
KRTAP9-7_chr17_41270698_41281207 | 41271615 | G | GGTCCAGC others(8): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 257 | 0.0078 | 15 | c.-40 others(26): Show |
KRTAP9-7 | ENSG00000180386.8 | transcript | ENST00000391354.2 | protein_coding | 4082 | chr17 | TogoVar | |||||||
KRTAP9-9_chr17_41250384_41261364 | 41255418 | T | TACCTGCT others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(265): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0007 | a0001c0001t0001a0001c0001t0005a0001c0005t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0005t0001g0000 others(1): Show |
268 | 415 | 0.6458 | 15 | c.42_ others(20): Show |
p.Cys others(11): Show |
KRTAP9-9 | ENSG00000198083.9 | transcript | ENST00000394008.1 | protein_coding | 1/1 | 59/981 | 57/510 | 19/169 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KSR1_chr17_27451448_27631435 | 27525991 | A | ACTTTTCT others(8): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01361.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0230 a0001c0001t0002g0003 a0001c0001t0002g0038 others(18): Show |
21 | 246 | 0.0854 | 15 | c.232 others(34): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27563981 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0002g0066 others(2): Show |
5 | 246 | 0.0203 | 15 | c.372 others(34): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27579878 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230 a0001c0001t0002g0031 |
2 | 246 | 0.0081 | 15 | c.520 others(32): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117469944 | C | CCATCCAT others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01106.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0008a0001c0001t0019a0001c0001t0027others(39): Show | a0001c0001t0008g0103 a0001c0001t0019g0117 a0001c0001t0027g0001 others(41): Show |
44 | 196 | 0.2245 | 15 | c.271 others(32): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 18/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117607654 | A | AAGGAGAG others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG02040.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(16): Show | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0004g0102 others(17): Show |
20 | 196 | 0.1020 | 15 | c.117 others(36): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117637675 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0097 | a0001c0001t0026g0002 a0001c0001t0097g0132 |
2 | 196 | 0.0102 | 15 | c.117 others(36): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117639629 | G | GTATTATT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00609.hp1 others(25): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(24): Show | a0001c0001t0001g0079 a0001c0001t0002g0127 a0001c0001t0017g0155 others(25): Show |
28 | 196 | 0.1429 | 15 | c.117 others(36): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117777088 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0029 | a0001c0006t0029g0030 | 1 | 196 | 0.0051 | 15 | c.473 others(34): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117950746 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 196 | 0.0051 | 15 | c.180 others(34): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar |