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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRBA2_chr17_8353822_8381704 | 8372161 | GAAGGTCC others(8): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0144 | a0001c0002t0144g0163 | 1 | 388 | 0.0026 | -15 | c.-20 others(32): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
KRBA2_chr17_8353822_8381704 | 8377148 | AAGTCATC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0021a0001c0001t0028a0001c0001t0189others(2): Show | a0001c0001t0021g0230 a0001c0001t0021g0232 a0001c0001t0021g0233 others(5): Show |
10 | 388 | 0.0258 | -15 | c.-12 others(26): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 445 | chr17 | TogoVar | |||||||
KRR1_chr12_75485863_75516609 | 75500511 | GATTAATT others(8): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 |
a0002 | a0002c0002 | a0002c0002t0036a0002c0002t0039 | a0002c0002t0036g0140 a0002c0002t0039g0146 |
2 | 368 | 0.0054 | -15 | c.100 others(32): Show |
KRR1 | ENSG00000111615.14 | transcript | ENST00000229214.9 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
KRT10_chr17_40813117_40827614 | 40818999 | GCCGCCGC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00621.hp2 HG00673.hp1 others(37): Show |
a0006a0009a0026 | a0006c0005a0009c0011a0026c0031 | a0006c0005t0001a0009c0011t0001a0026c0031t0001 | a0006c0005t0001g0004 a0009c0011t0001g0010 a0026c0031t0001g0041 |
40 | 426 | 0.0939 | -15 | c.152 others(24): Show |
p.Ser others(13): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1564/2143 | 1521/1755 | 507/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40819077 | GCCGCCGC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG02970.hp1 HG03669.hp2 |
a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0020 | 2 | 426 | 0.0047 | -15 | c.144 others(24): Show |
p.Ser others(13): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1486/2143 | 1443/1755 | 481/584 | chr17 | TogoVar | |||
KRT14_chr17_41577279_41591895 | 41584049 | CAATCTCT others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0050 | 1 | 330 | 0.0030 | -15 | c.766 others(30): Show |
KRT14 | ENSG00000186847.6 | transcript | ENST00000167586.7 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
KRT1_chr12_52669736_52685407 | 52680016 | TCCACCAA others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02622.hp1 NA18971.hp1 |
a0007 | a0007c0013a0007c0014 | a0007c0013t0001a0007c0014t0001 | a0007c0013t0001g0027 a0007c0014t0001g0026 |
2 | 398 | 0.0050 | -15 | c.318 others(22): Show |
p.Gly others(13): Show |
KRT1 | ENSG00000167768.4 | transcript | ENST00000252244.3 | protein_coding | 1/9 | 391/2451 | 318/1935 | 106/644 | chr12 | TogoVar | |||
KRT25_chr17_40743021_40760331 | 40753683 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0068 | 1 | 426 | 0.0024 | -15 | c.669 others(30): Show |
KRT25 | ENSG00000204897.7 | transcript | ENST00000312150.5 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
KRT25_chr17_40743021_40760331 | 40756762 | TGTATGTC others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 426 | 0.0024 | -15 | c.-15 others(26): Show |
KRT25 | ENSG00000204897.7 | transcript | ENST00000312150.5 | protein_coding | 1432 | chr17 | TogoVar | |||||||
KRT27_chr17_40771808_40787550 | 40786298 | CAGAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02965.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0004 a0004c0003t0001g0042 |
2 | 464 | 0.0043 | -15 | c.-38 others(26): Show |
KRT27 | ENSG00000171446.7 | transcript | ENST00000301656.4 | protein_coding | 3749 | chr17 | TogoVar | |||||||
KRT39_chr17_40953417_40971948 | 40953770 | GTGAGAGA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0008 | 1 | 423 | 0.0024 | -15 | c.*48 others(26): Show |
KRT39 | ENSG00000196859.8 | transcript | ENST00000355612.7 | protein_coding | 4646 | chr17 | TogoVar | |||||||
KRT72_chr12_52580589_52606463 | 52588574 | TGGTTGAT others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02257.hp1 others(6): Show |
a0002a0007 | a0002c0008a0007c0007 | a0002c0008t0001a0007c0007t0001 | a0002c0008t0001g0013 a0002c0008t0001g0099 a0007c0007t0001g0100 |
9 | 432 | 0.0208 | -15 | c.109 others(32): Show |
KRT72 | ENSG00000170486.11 | transcript | ENST00000293745.7 | protein_coding | 6/8 | chr12 | TogoVar | |||||||
KRT77_chr12_52684626_52708524 | 52689425 | GAGAGGAG others(8): Show |
G | downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 420 | 0.0024 | -15 | c.*17 others(26): Show |
KRT77 | ENSG00000189182.10 | transcript | ENST00000341809.8 | protein_coding | 200 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52404553 | ACCCGGCT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0006 | a0006c0007 | a0006c0007t0009 | a0006c0007t0009g0081 | 1 | 370 | 0.0027 | -15 | c.412 others(30): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52405764 | CCTCCTCA others(8): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 370 | 0.0027 | -15 | c.411 others(29): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
KRT83_chr12_52309301_52326398 | 52312217 | TGCATCAC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02723.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0007 a0003c0003t0002g0011 a0003c0003t0002g0058 |
4 | 428 | 0.0094 | -15 | c.*23 others(26): Show |
KRT83 | ENSG00000170523.3 | transcript | ENST00000293670.3 | protein_coding | 2083 | chr12 | TogoVar | |||||||
KRT86_chr12_52269645_52314163 | 52312217 | TGCATCAC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 a0001c0001t0005g0330 a0001c0001t0005g0340 |
4 | 414 | 0.0097 | -15 | c.*36 others(26): Show |
KRT86 | ENSG00000170442.12 | transcript | ENST00000423955.7 | protein_coding | 3055 | chr12 | TogoVar | |||||||
KRT8_chr12_52892191_52910076 | 52903858 | GCCCACCC others(8): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG03490.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0070 |
4 | 386 | 0.0104 | -15 | c.324 others(30): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
KRTAP1-3_chr17_41028884_41039874 | 41029985 | TCTGGCAG others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18951.hp2 NA18959.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 435 | 0.0046 | -15 | c.*43 others(26): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 3898 | chr17 | TogoVar | |||||||
KRTAP1-3_chr17_41028884_41039874 | 41032329 | CGGGGGTA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 435 | 0.0023 | -15 | c.*19 others(26): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 1554 | chr17 | TogoVar | |||||||
KRTAP1-4_chr17_41024351_41035195 | 41029985 | TCTGGCAG others(8): Show |
T | conservative_inframe_deletion | MODERATE | NA18951.hp2 NA18959.hp2 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 2 | 429 | 0.0047 | -15 | c.79_ others(20): Show |
p.Pro others(11): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 1/1 | 210/845 | 79/366 | 27/121 | chr17 | TogoVar | |||
KRTAP1-4_chr17_41024351_41035195 | 41032329 | CGGGGGTA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 429 | 0.0023 | -15 | c.-22 others(26): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 2135 | chr17 | TogoVar | |||||||
KRTAP1-5_chr17_41021026_41032208 | 41029985 | TCTGGCAG others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18951.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 429 | 0.0047 | -15 | c.-28 others(26): Show |
KRTAP1-5 | ENSG00000221852.5 | transcript | ENST00000361883.6 | protein_coding | 2778 | chr17 | TogoVar | |||||||
KRTAP10-10_chr21_44632356_44643455 | 44637695 | CCTGCTGT others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004a0005others(6): Show | a0001c0002a0001c0008a0001c0011others(21): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0012others(25): Show | a0001c0002t0001g0000 a0001c0002t0004g0000 a0001c0002t0012g0000 others(25): Show |
196 | 438 | 0.4475 | -15 | c.291 others(22): Show |
p.Val others(12): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 353/1100 | 291/756 | 97/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP10-10_chr21_44632356_44643455 | 44637708 | TGTCTGCT others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01175.hp2 HG01192.hp2 others(12): Show |
a0005a0024a0035 | a0005c0007a0005c0017a0005c0039others(3): Show | a0005c0007t0001a0005c0007t0015a0005c0017t0008others(5): Show | a0005c0007t0001g0000 a0005c0007t0015g0000 a0005c0017t0008g0000 others(5): Show |
15 | 438 | 0.0343 | -15 | c.300 others(22): Show |
p.Val others(13): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 362/1100 | 300/756 | 100/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP10-2_chr21_44545357_44556505 | 44550876 | ACTTGCAG others(8): Show |
A | conservative_inframe_deletion | MODERATE | HG00639.hp2 HG00642.hp1 HG00673.hp2 others(121): Show |
a0002a0009a0015 | a0002c0002a0002c0017a0009c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0011others(4): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0011g0000 others(4): Show |
124 | 464 | 0.2672 | -15 | c.568 others(22): Show |
p.Pro others(13): Show |
KRTAP10-2 | ENSG00000205445.3 | transcript | ENST00000391621.1 | protein_coding | 1/1 | 629/1149 | 568/768 | 190/255 | chr21 | TogoVar | |||
KRTAP10-4_chr21_44568729_44580371 | 44573877 | CCTGCTGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG01081.hp1 HG01258.hp1 HG01884.hp2 others(27): Show |
a0006a0008a0010others(6): Show | a0006c0014a0006c0018a0006c0053others(9): Show | a0006c0014t0005a0006c0018t0002a0006c0053t0002others(10): Show | a0006c0014t0005g0000 a0006c0018t0002g0000 a0006c0053t0002g0000 others(10): Show |
30 | 476 | 0.0630 | -15 | c.132 others(22): Show |
p.Ser others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 162/1643 | 132/1206 | 44/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP10-4_chr21_44568729_44580371 | 44574451 | CGTCTGCT others(8): Show |
C | conservative_inframe_deletion | MODERATE | HG01258.hp1 | a0025 | a0025c0045 | a0025c0045t0005 | a0025c0045t0005g0000 | 1 | 476 | 0.0021 | -15 | c.706 others(22): Show |
p.Thr others(13): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 736/1643 | 706/1206 | 236/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591768 | ACAGCACA others(8): Show |
A | disruptive_inframe_deletion | MODERATE | NA18986.hp2 NA19080.hp1 |
a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0000 | 2 | 428 | 0.0047 | -15 | c.702 others(22): Show |
p.Val others(13): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 737/1238 | 702/1098 | 234/365 | chr21 | TogoVar | |||
KRTAP12-2_chr21_44661189_44671927 | 44661367 | TAAGTAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -15 | c.*50 others(26): Show |
KRTAP12-2 | ENSG00000221864.4 | transcript | ENST00000360770.3 | protein_coding | 4821 | chr21 | TogoVar | |||||||
KRTAP12-3_chr21_44652932_44663341 | 44661367 | TAAGTAAA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -15 | c.*30 others(26): Show |
KRTAP12-3 | ENSG00000205439.10 | transcript | ENST00000397907.1 | protein_coding | 3027 | chr21 | TogoVar | |||||||
KRTAP13-1_chr21_30391031_30401822 | 30394017 | ATTTTCCA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG03239.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 3 | 424 | 0.0071 | -15 | c.-20 others(26): Show |
KRTAP13-1 | ENSG00000198390.5 | transcript | ENST00000355459.4 | protein_coding | 2013 | chr21 | TogoVar | |||||||
KRTAP17-1_chr17_41309912_41320710 | 41315500 | TGCCCCCG others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG00408.hp2 HG00544.hp2 HG00639.hp2 others(105): Show |
a0002a0003 | a0002c0002a0003c0004a0003c0005 | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(2): Show | a0002c0002t0002g0000 a0002c0002t0004g0000 a0002c0002t0005g0000 others(2): Show |
108 | 413 | 0.2615 | -15 | c.136 others(22): Show |
p.Ser others(11): Show |
KRTAP17-1 | ENSG00000186860.5 | transcript | ENST00000334202.5 | protein_coding | 1/1 | 210/799 | 136/318 | 46/105 | chr17 | TogoVar | |||
KRTAP2-3_chr17_41054240_41065114 | 41064589 | GAAGTGAT others(8): Show |
G | upstream_gene_variant | MODIFIER | NA19005.hp2 NA19082.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 2 | 441 | 0.0045 | -15 | c.-45 others(26): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 4476 | chr17 | TogoVar | |||||||
KRTAP2-4_chr17_41060116_41070879 | 41064589 | GAAGTGAT others(8): Show |
G | downstream_gene_variant | MODIFIER | NA19005.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 433 | 0.0046 | -15 | c.*85 others(24): Show |
KRTAP2-4 | ENSG00000213417.3 | transcript | ENST00000394015.3 | protein_coding | 526 | chr17 | TogoVar | |||||||
KRTAP27-1_chr21_30332013_30342694 | 30334508 | TGATAGAT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(34): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0000 a0004c0004t0001g0000 |
37 | 420 | 0.0881 | -15 | c.*25 others(26): Show |
KRTAP27-1 | ENSG00000206107.2 | transcript | ENST00000382835.2 | protein_coding | 2504 | chr21 | TogoVar | |||||||
KRTAP3-2_chr17_40994193_41004906 | 41000477 | ATTTTTAT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 473 | 0.0021 | -15 | c.-63 others(24): Show |
KRTAP3-2 | ENSG00000212900.3 | transcript | ENST00000391587.3 | protein_coding | 572 | chr17 | TogoVar | |||||||
KRTAP4-11_chr17_41112181_41123373 | 41121825 | AAAGGGAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(81): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(3): Show | a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 others(3): Show |
84 | 427 | 0.1967 | -15 | c.-35 others(26): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 3453 | chr17 | TogoVar | |||||||
KRTAP4-12_chr17_41118091_41129182 | 41121825 | AAAGGGAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(78): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0003c0009others(2): Show | a0001c0001t0001a0001c0001t0005a0003c0003t0001others(3): Show | a0001c0001t0001g0000 a0001c0001t0005g0000 a0003c0003t0001g0000 others(3): Show |
81 | 423 | 0.1915 | -15 | c.*16 others(26): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1265 | chr17 | TogoVar | |||||||
KRTAP4-1_chr17_41179100_41189911 | 41187031 | TGCAGCAG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 426 | 0.0117 | -15 | c.-21 others(26): Show |
KRTAP4-1 | ENSG00000198443.8 | transcript | ENST00000398472.2 | protein_coding | 2121 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158501 | GGAAGAAG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02040.hp1 HG02074.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0002 | a0001c0001t0001g0000 a0004c0004t0002g0000 |
11 | 420 | 0.0262 | -15 | c.*16 others(26): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1147 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158564 | AGAAGAAG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | -15 | c.*16 others(26): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1084 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158567 | AGAAGAAG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02738.hp2 HG02886.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0000 a0002c0002t0003g0000 |
13 | 420 | 0.0310 | -15 | c.*16 others(26): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1081 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158570 | AGAAGAAG others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18985.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 420 | 0.0048 | -15 | c.*16 others(26): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1078 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41160598 | TGCAGCAG others(8): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp1 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0000 | 1 | 420 | 0.0024 | -15 | c.79_ others(20): Show |
p.Gln others(11): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1/1 | 150/1100 | 79/501 | 27/166 | chr17 | TogoVar | |||
KRTAP5-1_chr11_1579342_1590283 | 1580901 | ATTACAAG others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0000 | 1 | 429 | 0.0023 | -15 | c.*34 others(26): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 3440 | chr11 | TogoVar | |||||||
KRTAP5-3_chr11_1602565_1613463 | 1613054 | CTTTATTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0000 a0001c0002t0004g0000 |
12 | 427 | 0.0281 | -15 | c.-46 others(26): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 4592 | chr11 | TogoVar | |||||||
KRTAP5-4_chr11_1615958_1627138 | 1623608 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 427 | 0.0023 | -15 | c.-15 others(26): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1471 | chr11 | TogoVar | |||||||
KRTAP5-9_chr11_71543420_71554608 | 71552730 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 422 | 0.0024 | -15 | c.*35 others(26): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 3123 | chr11 | TogoVar | |||||||
KRTAP9-1_chr17_41184887_41195639 | 41187031 | TGCAGCAG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 460 | 0.0109 | -15 | c.-28 others(26): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 2855 | chr17 | TogoVar |