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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRI1_chr19_10548085_10571010 | 10570547 | C | CAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA19082.hp2 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0020t0001 | a0001c0001t0001g0056 a0001c0020t0001g0110 |
2 | 406 | 0.0049 | 30 | c.-45 others(41): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 4538 | chr19 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40818851 | A | AGCTGCCG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(91): Show |
a0003a0009a0010others(5): Show | a0003c0003a0009c0011a0010c0012others(5): Show | a0003c0003t0001a0003c0003t0005a0009c0011t0001others(6): Show | a0003c0003t0001g0002 a0003c0003t0005g0019 a0009c0011t0001g0010 others(6): Show |
94 | 426 | 0.2207 | 30 | c.165 others(39): Show |
p.Ser others(43): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1712/2143 | 1683/1755 | 561/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818859 | C | CCGCCGTA others(23): Show |
conservative_inframe_insertion | MODERATE | HG03654.hp1 | a0024 | a0024c0029 | a0024c0029t0001 | a0024c0029t0001g0038 | 1 | 426 | 0.0024 | 30 | c.167 others(39): Show |
p.Gly others(43): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1704/2143 | 1675/1755 | 559/584 | chr17 | TogoVar | |||
KRT13_chr17_41495981_41510612 | 41505525 | G | GGGGAGGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp1 | a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0038 | 1 | 470 | 0.0021 | 30 | c.25_ others(35): Show |
p.Ser others(40): Show |
KRT13 | ENSG00000171401.15 | transcript | ENST00000246635.8 | protein_coding | 1/8 | 87/1714 | 25/1377 | 9/458 | chr17 | TogoVar | |||
KRT14_chr17_41577279_41591895 | 41586769 | G | GGAGAGAT others(23): Show |
disruptive_inframe_insertion | MODERATE | HG01169.hp2 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0042 | 1 | 330 | 0.0030 | 30 | c.65_ others(35): Show |
p.Gly others(41): Show |
KRT14 | ENSG00000186847.6 | transcript | ENST00000167586.7 | protein_coding | 1/8 | 126/1636 | 65/1419 | 22/472 | chr17 | TogoVar | |||
KRT2_chr12_52639558_52657211 | 52646557 | T | TGTAACTC others(23): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 466 | 0.0022 | 30 | c.146 others(47): Show |
KRT2 | ENSG00000172867.4 | transcript | ENST00000309680.4 | protein_coding | 7/8 | chr12 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974724 | C | CTTTCTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 HG03130.hp1 NA19030.hp2 |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0003 a0005c0004t0002g0069 |
3 | 451 | 0.0067 | 30 | c.*34 others(41): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 2990 | chr17 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52407297 | C | CTTTCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0088 | 1 | 370 | 0.0027 | 30 | c.-10 others(41): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 963 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52408854 | A | ATAGGACA others(23): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 30 | c.-25 others(41): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2520 | chr12 | TogoVar | |||||||
KRTAP1-1_chr17_41035541_41046450 | 41041286 | G | GTGGCTGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0000 | 1 | 403 | 0.0025 | 30 | c.82_ others(36): Show |
p.Pro others(41): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 164/910 | 111/534 | 37/177 | chr17 | TogoVar | |||
KRTAP1-3_chr17_41028884_41039874 | 41034702 | G | GCAGCAGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(156): Show |
a0002a0004a0006 | a0002c0002a0002c0003a0002c0011others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(9): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0004g0000 others(9): Show |
159 | 435 | 0.3655 | 30 | c.90_ others(36): Show |
p.Cys others(41): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 1/1 | 172/991 | 119/504 | 40/167 | chr17 | TogoVar | |||
KRTAP1-3_chr17_41028884_41039874 | 41034721 | C | CAGCTGGT others(23): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0002a0003c0007t0002 | a0003c0004t0002g0000 a0003c0007t0002g0000 |
64 | 435 | 0.1471 | 30 | c.100 others(37): Show |
p.Ser others(41): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 1/1 | 153/991 | 100/504 | 34/167 | chr17 | TogoVar | |||
KRTAP1-3_chr17_41028884_41039874 | 41034742 | G | GGCTGGCA others(23): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 HG02559.hp1 HG02615.hp1 others(4): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0008 | a0005c0006t0001g0000 a0005c0006t0008g0000 |
7 | 435 | 0.0161 | 30 | c.79_ others(35): Show |
p.Gln others(41): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 1/1 | 132/991 | 79/504 | 27/167 | chr17 | TogoVar | |||
KRTAP1-4_chr17_41024351_41035195 | 41026898 | G | GCAGCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 429 | 0.0093 | 30 | c.*28 others(41): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 2452 | chr17 | TogoVar | |||||||
KRTAP1-4_chr17_41024351_41035195 | 41034702 | G | GCAGCAGC others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(152): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0002c0002t0002g0000 others(5): Show |
155 | 429 | 0.3613 | 30 | c.-46 others(41): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 4508 | chr17 | TogoVar | |||||||
KRTAP1-4_chr17_41024351_41035195 | 41034721 | C | CAGCTGGT others(23): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp2 others(59): Show |
a0003a0004 | a0003c0003a0004c0006 | a0003c0003t0003a0004c0006t0003 | a0003c0003t0003g0000 a0004c0006t0003g0000 |
62 | 429 | 0.1445 | 30 | c.-46 others(41): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 4527 | chr17 | TogoVar | |||||||
KRTAP1-4_chr17_41024351_41035195 | 41034742 | G | GGCTGGCA others(23): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02615.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 7 | 429 | 0.0163 | 30 | c.-46 others(41): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 4548 | chr17 | TogoVar | |||||||
KRTAP1-5_chr17_41021026_41032208 | 41026898 | G | GCAGCAGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp2 HG02922.hp2 HG03516.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0000 | 4 | 429 | 0.0093 | 30 | c.257 others(37): Show |
p.Cys others(41): Show |
KRTAP1-5 | ENSG00000221852.5 | transcript | ENST00000361883.6 | protein_coding | 1/1 | 310/1183 | 257/525 | 86/174 | chr17 | TogoVar | |||
KRTAP10-7_chr21_44595597_44607174 | 44599134 | T | TTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02735.hp2 NA19076.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 446 | 0.0090 | 30 | c.-14 others(41): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1462 | chr21 | TogoVar | |||||||
KRTAP10-7_chr21_44595597_44607174 | 44599171 | T | TCTCTCTC others(23): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0000 | 1 | 446 | 0.0022 | 30 | c.-14 others(41): Show |
KRTAP10-7 | ENSG00000272804.3 | transcript | ENST00000609664.2 | protein_coding | 1425 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562380 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 HG03942.hp1 NA18949.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 422 | 0.0095 | 30 | c.-10 others(41): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1067 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562382 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 422 | 0.0047 | 30 | c.-10 others(41): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1069 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562382 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 422 | 0.0119 | 30 | c.-10 others(41): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1069 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562382 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 422 | 0.0047 | 30 | c.-10 others(41): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1069 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30562394 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 422 | 0.0119 | 30 | c.-11 others(41): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 1081 | chr21 | TogoVar | |||||||
KRTAP19-7_chr21_30555875_30566314 | 30564869 | A | ATAATAAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0000 | 1 | 422 | 0.0024 | 30 | c.-35 others(41): Show |
KRTAP19-7 | ENSG00000244362.3 | transcript | ENST00000334849.2 | protein_coding | 3556 | chr21 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41050794 | T | TATATATT others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01192.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
17 | 407 | 0.0418 | 30 | c.-35 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3479 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41050833 | C | CATATATA others(23): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18957.hp1 NA18963.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 6 | 407 | 0.0147 | 30 | c.-35 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3518 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41050976 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 407 | 0.0025 | 30 | c.-37 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3661 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051034 | T | TTATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 7 | 407 | 0.0172 | 30 | c.-37 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3719 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41050794 | T | TATATATT others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01192.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0005t0004a0002c0003t0001others(1): Show | a0001c0001t0002g0000 a0001c0005t0004g0000 a0002c0003t0001g0000 others(1): Show |
16 | 411 | 0.0389 | 30 | c.*40 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3703 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41050833 | C | CATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA18957.hp2 NA19010.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 4 | 411 | 0.0097 | 30 | c.*40 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3664 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41050976 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 1 | 411 | 0.0024 | 30 | c.*38 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3521 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051034 | T | TTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02572.hp1 others(4): Show |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0000 | 7 | 411 | 0.0170 | 30 | c.*38 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3463 | chr17 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742110 | T | TCCATATC others(23): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0000 | 1 | 380 | 0.0026 | 30 | c.*48 others(41): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4683 | chr21 | TogoVar | |||||||
KRTAP3-1_chr17_41003521_41014128 | 41007665 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0000 a0001c0001t0008g0000 |
4 | 439 | 0.0091 | 30 | c.*11 others(41): Show |
KRTAP3-1 | ENSG00000212901.4 | transcript | ENST00000391588.3 | protein_coding | 855 | chr17 | TogoVar | |||||||
KRTAP3-1_chr17_41003521_41014128 | 41007667 | G | GTATATAT others(23): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 439 | 0.0023 | 30 | c.*11 others(41): Show |
KRTAP3-1 | ENSG00000212901.4 | transcript | ENST00000391588.3 | protein_coding | 853 | chr17 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41097890 | A | ACAGCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(231): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0009others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(10): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0009t0001g0000 others(10): Show |
234 | 423 | 0.5532 | 30 | c.*36 others(41): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3611 | chr17 | TogoVar | |||||||
KRTAP4-8_chr17_41091981_41103142 | 41097890 | A | ACAGCAGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0013a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(11): Show | a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0012g0000 others(11): Show |
235 | 416 | 0.5649 | 30 | c.194 others(37): Show |
p.Cys others(41): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 252/1162 | 194/558 | 65/185 | chr17 | TogoVar | |||
KRTAP5-10_chr11_71560563_71571735 | 71565863 | G | GGGCTGTG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(241): Show |
a0001a0003a0005others(4): Show | a0001c0002a0001c0003a0001c0005others(8): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(13): Show | a0001c0002t0002g0000 a0001c0002t0003g0000 a0001c0002t0005g0000 others(13): Show |
244 | 468 | 0.5214 | 30 | c.305 others(37): Show |
p.Gly others(43): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 331/1173 | 306/609 | 102/202 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-11_chr11_71576855_71587875 | 71579744 | A | ACAGCAGC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(306): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(8): Show |
309 | 464 | 0.6660 | 30 | c.*26 others(41): Show |
KRTAP5-11 | ENSG00000204571.7 | transcript | ENST00000398530.1 | protein_coding | 2110 | chr11 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1583879 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp2 others(26): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0000 a0005c0005t0001g0000 |
29 | 429 | 0.0676 | 30 | c.*53 others(39): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 462 | chr11 | TogoVar | |||||||
KRTAP5-5_chr11_1624775_1635930 | 1629939 | T | TGGCTGTG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(16): Show |
a0005 | a0005c0005a0005c0019 | a0005c0005t0004a0005c0019t0004 | a0005c0005t0004g0000 a0005c0019t0004g0000 |
19 | 445 | 0.0427 | 30 | c.128 others(37): Show |
p.Gly others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 224/1156 | 158/714 | 53/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630163 | C | CCTGTGGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG01433.hp1 | a0015 | a0015c0024 | a0015c0024t0009 | a0015c0024t0009g0000 | 1 | 445 | 0.0023 | 30 | c.420 others(37): Show |
p.Gly others(43): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 516/1156 | 450/714 | 150/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-7_chr11_71522267_71533669 | 71527629 | C | CCTGCTGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0006a0011 | a0001c0001a0006c0007a0011c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(4): Show |
213 | 460 | 0.4630 | 30 | c.366 others(37): Show |
p.Cys others(43): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 1/1 | 430/1403 | 396/498 | 132/165 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KSR1_chr17_27451448_27631435 | 27461859 | C | CTGCCCGC others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0015 others(74): Show |
77 | 246 | 0.3130 | 30 | c.231 others(47): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27525991 | A | ACTTTTCT others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03471.hp2 HG03688.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0021a0001c0005t0002a0002c0004t0004 | a0001c0001t0021g0008 a0001c0005t0002g0240 a0002c0004t0004g0168 others(1): Show |
4 | 246 | 0.0163 | 30 | c.232 others(49): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27526044 | T | TTTCTTTT others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG02132.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0171 a0001c0001t0001g0216 a0001c0001t0002g0033 others(1): Show |
4 | 246 | 0.0163 | 30 | c.232 others(49): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR1_chr17_27451448_27631435 | 27526094 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0072 a0001c0001t0017g0012 |
2 | 246 | 0.0081 | 30 | c.232 others(49): Show |
KSR1 | ENSG00000141068.17 | transcript | ENST00000644974.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117452573 | A | ATTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0012 | a0001c0012t0073 | a0001c0012t0073g0071 | 1 | 196 | 0.0051 | 30 | c.*14 others(43): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 438 | chr12 | TogoVar |