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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KNDC1_chr10_133155219_133231412 | 133182925 | ACGGTGTG others(23): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG02523.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0126 a0001c0004t0002g0210 |
2 | 100 | 0.0200 | -30 | c.361 others(45): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133182959 | TGTGGGCA others(23): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0147 | 1 | 326 | 0.0031 | -30 | c.361 others(45): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KNG1_chr3_186712359_186749410 | 186718325 | ACCACCAC others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0006a0002c0011others(3): Show | a0001c0004t0004a0002c0006t0001a0002c0006t0002others(19): Show | a0001c0004t0004g0059 a0002c0006t0001g0083 a0002c0006t0001g0091 others(43): Show |
52 | 428 | 0.1215 | -30 | c.195 others(45): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KNTC1_chr12_122522249_122631396 | 122579025 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 HG03139.hp2 others(3): Show |
a0002a0019 | a0002c0003a0019c0037 | a0002c0003t0001a0019c0037t0001 | a0002c0003t0001g0127 a0002c0003t0001g0288 a0002c0003t0001g0290 others(3): Show |
6 | 7 | 0.8571 | -30 | c.284 others(47): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 31/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KPNA5_chr6_116676211_116746867 | 116732074 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0029 | a0001c0001t0001g0124 a0001c0001t0009g0171 a0001c0001t0009g0172 others(4): Show |
7 | 18 | 0.3889 | -30 | c.143 others(45): Show |
KPNA5 | ENSG00000196911.12 | transcript | ENST00000368564.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KPNA7_chr7_99168572_99213115 | 99181163 | CTCTCCGT others(23): Show |
C | intron_variant | MODIFIER | NA18940.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0204 | 1 | 332 | 0.0030 | -30 | c.131 others(47): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
KRT18_chr12_52944118_52957906 | 52954933 | GTATGTAT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02886.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 6 | 406 | 0.0148 | -30 | c.*20 others(41): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 2028 | chr12 | TogoVar | |||||||
KRT24_chr17_40692991_40708752 | 40701723 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02040.hp2 HG02056.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0006c0006t0001 | a0001c0001t0002g0009 a0001c0001t0002g0073 a0006c0006t0001g0038 |
11 | 78 | 0.1410 | -30 | c.698 others(44): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
KRT24_chr17_40692991_40708752 | 40701751 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 422 | 0.0024 | -30 | c.698 others(43): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/7 | chr17 | TogoVar | |||||||
KRT40_chr17_40972715_40989326 | 40974593 | CCTCCCTC others(23): Show |
C | downstream_gene_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 450 | 0.0022 | -30 | c.*35 others(41): Show |
KRT40 | ENSG00000204889.11 | transcript | ENST00000377755.9 | protein_coding | 3121 | chr17 | TogoVar | |||||||
KRT4_chr12_52801549_52819116 | 52812516 | GACTTTCC others(23): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 468 | 0.0021 | -30 | c.463 others(45): Show |
KRT4 | ENSG00000170477.13 | transcript | ENST00000551956.2 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52406581 | ACAGATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0032 | 1 | 368 | 0.0027 | -30 | c.-33 others(39): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 247 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52410680 | CAATAAAA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0017 | 1 | 352 | 0.0028 | -30 | c.-44 others(41): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 4346 | chr12 | TogoVar | |||||||
KRT8_chr12_52892191_52910076 | 52908884 | TAGTCCCA others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0017 | 1 | 384 | 0.0026 | -30 | c.-39 others(41): Show |
KRT8 | ENSG00000170421.13 | transcript | ENST00000692008.1 | protein_coding | 3809 | chr12 | TogoVar | |||||||
KRTAP1-1_chr17_41035541_41046450 | 41041267 | CAGCTGGT others(23): Show |
C | disruptive_inframe_deletion | MODERATE | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | -30 | c.101 others(37): Show |
p.Ser others(11): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 183/910 | 101/534 | 34/177 | chr17 | TogoVar | |||
KRTAP1-4_chr17_41024351_41035195 | 41026898 | GCAGCAGC others(23): Show |
G | downstream_gene_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 420 | 0.0024 | -30 | c.*27 others(41): Show |
KRTAP1-4 | ENSG00000204887.5 | transcript | ENST00000377747.5 | protein_coding | 2452 | chr17 | TogoVar | |||||||
KRTAP1-5_chr17_41021026_41032208 | 41026898 | GCAGCAGC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA19086.hp1 | a0010 | a0010c0009 | a0010c0009t0002 | a0010c0009t0002g0000 | 1 | 420 | 0.0024 | -30 | c.228 others(37): Show |
p.Glu others(11): Show |
KRTAP1-5 | ENSG00000221852.5 | transcript | ENST00000361883.6 | protein_coding | 1/1 | 310/1183 | 228/525 | 76/174 | chr17 | TogoVar | |||
KRTAP10-3_chr21_44552790_44563795 | 44558380 | GGGCACAC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG03453.hp1 | a0013 | a0013c0029 | a0013c0029t0001 | a0013c0029t0001g0000 | 1 | 466 | 0.0021 | -30 | c.306 others(37): Show |
p.Val others(13): Show |
KRTAP10-3 | ENSG00000212935.2 | transcript | ENST00000391620.2 | protein_coding | 1/1 | 415/1006 | 306/666 | 102/221 | chr21 | TogoVar | |||
KRTAP2-1_chr17_41041541_41052316 | 41049100 | AGATCTGT others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 406 | 0.0025 | -30 | c.-18 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1785 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41050976 | TTATATAT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 404 | 0.0050 | -30 | c.-37 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3661 | chr17 | TogoVar | |||||||
KRTAP2-1_chr17_41041541_41052316 | 41051004 | TTATATAT others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 265 | 0.0038 | -30 | c.-37 others(41): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 3689 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41050976 | TTATATAT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 2 | 408 | 0.0049 | -30 | c.*38 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3521 | chr17 | TogoVar | |||||||
KRTAP2-2_chr17_41049498_41060230 | 41051004 | TTATATAT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 264 | 0.0038 | -30 | c.*38 others(41): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3493 | chr17 | TogoVar | |||||||
KRTAP4-16_chr17_41096502_41107209 | 41105856 | CTCCAGCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 56 | 422 | 0.1327 | -30 | c.-36 others(41): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 3648 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158501 | GGAAGAAG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 229 | 0.0087 | -30 | c.*16 others(41): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1147 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158549 | AGAAGAAG others(23): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -30 | c.*16 others(41): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1099 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41158552 | AGAAGAAG others(23): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 417 | 0.0024 | -30 | c.*16 others(41): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1096 | chr17 | TogoVar | |||||||
KRTAP4-4_chr17_41154649_41165748 | 41161774 | GCGTGTGT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 418 | 0.0024 | -30 | c.-11 others(41): Show |
KRTAP4-4 | ENSG00000171396.12 | transcript | ENST00000390661.5 | protein_coding | 1027 | chr17 | TogoVar | |||||||
KRTAP4-9_chr17_41100389_41111488 | 41105856 | CTCCAGCT others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00423.hp1 HG00597.hp2 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 60 | 424 | 0.1415 | -30 | c.488 others(37): Show |
p.Ser others(13): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 1/1 | 488/1100 | 488/633 | 163/210 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KRTAP4-9_chr17_41100389_41111488 | 41109947 | TATACCTA others(23): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -30 | c.*39 others(41): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 3460 | chr17 | TogoVar | |||||||
KRTAP5-10_chr11_71560563_71571735 | 71566054 | CCTGCTGC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG03540.hp2 | a0006 | a0006c0013 | a0006c0013t0004 | a0006c0013t0004g0000 | 1 | 466 | 0.0021 | -30 | c.489 others(37): Show |
p.Asn others(13): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 514/1173 | 489/609 | 163/202 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-10_chr11_71560563_71571735 | 71568793 | ATGTTCCC others(23): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 466 | 0.0021 | -30 | c.*25 others(41): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 2059 | chr11 | TogoVar | |||||||
KRTAP5-10_chr11_71560563_71571735 | 71568831 | GGTCCAGC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00639.hp2 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0012others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0002others(7): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0004t0002g0000 others(7): Show |
65 | 466 | 0.1395 | -30 | c.*26 others(41): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 2097 | chr11 | TogoVar | |||||||
KRTAP5-1_chr11_1579342_1590283 | 1584890 | ACCACAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(208): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0001c0010others(6): Show | a0001c0001t0001a0001c0009t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0000 a0001c0009t0001g0000 a0001c0010t0001g0000 others(6): Show |
211 | 428 | 0.4930 | -30 | c.330 others(37): Show |
p.Ser others(13): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 393/942 | 330/837 | 110/278 | chr11 | TogoVar | |||
KRTAP5-1_chr11_1579342_1590283 | 1585007 | GGAGCCAC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA18952.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0000 | 1 | 427 | 0.0023 | -30 | c.213 others(37): Show |
p.Ser others(11): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 276/942 | 213/837 | 71/278 | chr11 | TogoVar | |||
KRTAP5-2_chr11_1592177_1603294 | 1597924 | ACCACAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | NA19090.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 412 | 0.0024 | -30 | c.297 others(37): Show |
p.Ser others(13): Show |
KRTAP5-2 | ENSG00000205867.3 | transcript | ENST00000412090.2 | protein_coding | 1/1 | 370/1118 | 297/534 | 99/177 | chr11 | TogoVar | |||
KRTAP5-2_chr11_1592177_1603294 | 1597942 | ACCCCCAC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 |
205 | 412 | 0.4976 | -30 | c.279 others(37): Show |
p.Ser others(12): Show |
KRTAP5-2 | ENSG00000205867.3 | transcript | ENST00000412090.2 | protein_coding | 1/1 | 352/1118 | 279/534 | 93/177 | chr11 | TogoVar | |||
KRTAP5-4_chr11_1615958_1627138 | 1621524 | ACAGCAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG02647.hp2 HG03688.hp2 |
a0008 | a0008c0009 | a0008c0009t0001a0008c0009t0009 | a0008c0009t0001g0000 a0008c0009t0009g0000 |
2 | 426 | 0.0047 | -30 | c.540 others(37): Show |
p.Lys others(13): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 614/1181 | 540/687 | 180/228 | chr11 | TogoVar | |||
KRTAP5-4_chr11_1615958_1627138 | 1621822 | CAGCCCCC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | NA20300.hp1 | a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0000 | 1 | 426 | 0.0023 | -30 | c.242 others(37): Show |
p.Tyr others(11): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 316/1181 | 242/687 | 81/228 | chr11 | TogoVar | |||
KRTAP5-5_chr11_1624775_1635930 | 1629968 | GAGGCTGT others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG01243.hp2 | a0013 | a0013c0018 | a0013c0018t0005 | a0013c0018t0005g0000 | 1 | 442 | 0.0023 | -30 | c.129 others(37): Show |
p.Gly others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 195/1156 | 129/714 | 43/237 | chr11 | TogoVar | |||
KRTAP5-5_chr11_1624775_1635930 | 1629969 | AGGCTGTG others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG03579.hp2 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0000 | 1 | 208 | 0.0048 | -30 | c.141 others(37): Show |
p.Cys others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 207/1156 | 141/714 | 47/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630133 | GCTGTGTC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA18976.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0000 | 1 | 444 | 0.0023 | -30 | c.299 others(37): Show |
p.Val others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 365/1156 | 299/714 | 100/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630163 | CCTGTGGC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0024a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(15): Show |
266 | 436 | 0.6101 | -30 | c.420 others(37): Show |
p.Ser others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 486/1156 | 420/714 | 140/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630355 | CCTGCTGC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(67): Show |
a0005a0006a0007others(7): Show | a0005c0005a0005c0017a0006c0007others(9): Show | a0005c0005t0004a0005c0017t0004a0006c0007t0001others(11): Show | a0005c0005t0004g0000 a0005c0017t0004g0000 a0006c0007t0001g0000 others(11): Show |
70 | 444 | 0.1577 | -30 | c.543 others(37): Show |
p.Tyr others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 609/1156 | 543/714 | 181/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630383 | TTACTGCT others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(185): Show |
a0001a0004a0015others(1): Show | a0001c0001a0001c0024a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(7): Show |
188 | 444 | 0.4234 | -30 | c.575 others(37): Show |
p.Tyr others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 641/1156 | 575/714 | 192/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP5-7_chr11_71522267_71533669 | 71527466 | AGCTGTGG others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG01346.hp2 HG01496.hp2 HG03927.hp1 |
a0006a0008 | a0006c0007a0008c0010 | a0006c0007t0001a0008c0010t0001 | a0006c0007t0001g0000 a0008c0010t0001g0000 |
3 | 458 | 0.0066 | -30 | c.195 others(37): Show |
p.Gly others(11): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 1/1 | 229/1403 | 195/498 | 65/165 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KRTAP9-2_chr17_41221648_41232652 | 41226922 | TGCTGTGG others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG00558.hp2 NA18950.hp2 NA18951.hp2 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 10 | 436 | 0.0229 | -30 | c.285 others(37): Show |
p.Cys others(12): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 292/1005 | 285/525 | 95/174 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KSR2_chr12_117448012_117973990 | 117692449 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp1 HG01192.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(29): Show | a0001c0001t0001g0079 a0001c0001t0004g0016 a0001c0001t0013g0120 others(30): Show |
33 | 39 | 0.8462 | -30 | c.987 others(49): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
KSR2_chr12_117448012_117973990 | 117947187 | AAAAGAAA others(23): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0013 | a0001c0013t0054 | a0001c0013t0054g0043 | 1 | 172 | 0.0058 | -30 | c.180 others(49): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
KYAT1_chr9_128827942_128886950 | 128865308 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 188 | 0.0053 | -30 | c.-7+ others(47): Show |
KYAT1 | ENSG00000171097.14 | transcript | ENST00000302586.8 | protein_coding | 1/12 | chr9 | TogoVar |