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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 52651831 | A | ACCTCCAA others(11): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(150): Show |
a0002a0007a0010 | a0002c0001a0002c0019a0002c0023others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(6): Show | a0002c0001t0001g0001a0002c0001t0001g0005a0002c0001t0001g0019others(18): Show | 153 | 466 | 0.3283 | 18 | c.311 others(25): Show |
p.Gly others(31): Show |
KRT2 | ENSG00000172867.4 | transcript | ENST00000309680.4 | protein_coding | 1/9 | 380/2450 | 311/1920 | 104/639 | chr12 | TogoVar | ||
KRT34_chr17_41372669_41387306 | 41382130 | G | GGCGGGGA others(7298): Show |
stop_gained others(1): Show |
HIGH | HG01257.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0033 | 1 | 451 | 0.0022 | 7305 | c.116 others(7312): Show |
p.Ala others(7316): Show |
KRT34 | ENSG00000131737.7 | transcript | ENST00000394001.3 | protein_coding | 1/7 | 176/1635 | 116/1185 | 39/394 | chr17 | TogoVar | ||
KRT9_chr17_41560836_41577059 | 41567480 | C | CCCACTTC others(17): Show |
disruptive_inframe_insertion | MODERATE | HG02886.hp1 HG03486.hp2 HG03516.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0016 | 3 | 300 | 0.0100 | 24 | c.164 others(33): Show |
p.Gly others(37): Show |
KRT9 | ENSG00000171403.10 | transcript | ENST00000246662.9 | protein_coding | 7/8 | 1731/2296 | 1664/1872 | 555/623 | chr17 | TogoVar | ||
KRTAP1-1_chr17_41035541_41046450 | 41041167 | T | TTCACAGC others(131): Show |
disruptive_inframe_insertion | MODERATE | HG00280.hp1 HG03927.hp2 |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0000 | 2 | 403 | 0.0050 | 138 | c.93_ others(144): Show |
p.Glu others(149): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 283/910 | 230/534 | 77/177 | 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 |
a0002a0003a0005others(2): Show | a0002c0002a0003c0003a0005c0005others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(9): Show | a0002c0002t0001g0000a0002c0002t0003g0000a0002c0002t0004g0000others(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 | ||
KRTAP1-5_chr17_41021026_41032208 | 41026898 | G | GCAGCAGC others(23): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp2 HG02922.hp2 HG03516.hp2 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0000 | 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 | ||
KRTAP10-10_chr21_44632356_44643455 | 44637803 | A | AGTCTAGC others(134): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp2 HG02818.hp2 |
a0019 | a0019c0025 | a0019c0025t0006 | a0019c0025t0006g0000 | 2 | 438 | 0.0046 | 141 | c.446 others(148): Show |
p.Pro others(154): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 509/1100 | 447/756 | 149/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-10_chr21_44632356_44643455 | 44637915 | T | TTCATGCT others(89): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 | a0035 | a0035c0033 | a0035c0033t0005 | a0035c0033t0005g0000 | 1 | 438 | 0.0023 | 96 | c.527 others(103): Show |
p.Pro others(109): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 590/1100 | 528/756 | 176/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-12_chr21_44692172_44703044 | 44697320 | C | CCTGCTGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp2 NA19030.hp2 |
a0010a0011 | a0010c0012a0011c0011 | a0010c0012t0001a0011c0011t0001 | a0010c0012t0001g0000a0011c0011t0001g0000 | 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 | |
KRTAP10-6_chr21_44586268_44597505 | 44591798 | G | GCAGCAGA others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02148.hp1 | a0043 | a0043c0047 | a0043c0047t0002 | a0043c0047t0002g0000 | 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 | 44591864 | T | TGAAGAAT others(131): Show |
disruptive_inframe_insertion | MODERATE | HG03041.hp1 | a0032 | a0032c0069 | a0032c0069t0001 | a0032c0069t0001g0000 | 1 | 428 | 0.0023 | 138 | c.620 others(145): Show |
p.Ser others(151): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 641/1238 | 620/1098 | 207/365 | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591864 | T | TGAGGGCG others(350): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp2 | a0007 | a0007c0073 | a0007c0073t0004 | a0007c0073t0004g0000 | 1 | 428 | 0.0023 | 357 | c.620 others(364): Show |
p.Ser others(370): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 641/1238 | 620/1098 | 207/365 | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591870 | T | TGTGCAGG others(350): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(96): Show |
a0002a0007a0013others(8): Show | a0002c0002a0002c0005a0002c0025others(15): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(17): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(17): Show | 99 | 428 | 0.2313 | 357 | c.614 others(364): Show |
p.Thr others(370): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 635/1238 | 614/1098 | 205/365 | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591870 | T | TGTGCAGG others(350): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(1): Show |
a0017 | a0017c0018 | a0017c0018t0002 | a0017c0018t0002g0000 | 4 | 428 | 0.0094 | 357 | c.614 others(364): Show |
p.Thr others(370): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 635/1238 | 614/1098 | 205/365 | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44592269 | A | ACAGACCG others(350): Show |
disruptive_inframe_insertion | MODERATE | NA19084.hp1 | a0047 | a0047c0039 | a0047c0039t0002 | a0047c0039t0002g0000 | 1 | 428 | 0.0023 | 357 | c.215 others(364): Show |
p.Cys others(368): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 236/1238 | 215/1098 | 72/365 | 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(28): Show | a0001c0001a0001c0048a0001c0064others(42): Show | a0001c0001t0001a0001c0048t0001a0001c0064t0001others(44): Show | a0001c0001t0001g0000a0001c0048t0001g0000a0001c0064t0001g0000others(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 |
a0014a0016 | a0014c0028a0014c0068a0016c0022 | a0014c0028t0002a0014c0068t0002a0016c0022t0002others(1): Show | a0014c0028t0002g0000a0014c0068t0002g0000a0016c0022t0002g0000others(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 | 44600755 | C | CCTGCTGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(70): Show |
a0002a0005a0006others(16): Show | a0002c0002a0002c0028a0005c0004others(18): Show | a0002c0002t0002a0002c0002t0011a0002c0028t0002others(21): Show | a0002c0002t0002g0000a0002c0002t0011g0000a0002c0028t0002g0000others(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 | |
KRTAP2-4_chr17_41060116_41070879 | 41065513 | G | GGGCCGGC others(98): Show |
stop_gained others(1): Show |
HIGH | HG02683.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0000 | 1 | 433 | 0.0023 | 105 | c.332 others(112): Show |
p.Pro others(118): Show |
KRTAP2-4 | ENSG00000213417.3 | transcript | ENST00000394015.3 | protein_coding | 1/1 | 366/764 | 332/387 | 111/128 | chr17 | TogoVar | ||
KRTAP21-1_chr21_30750015_30760428 | 30755274 | G | GCCATAGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG03195.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0000 | 1 | 368 | 0.0027 | 12 | c.93_ others(18): Show |
p.Gly others(23): Show |
KRTAP21-1 | ENSG00000187005.5 | transcript | ENST00000335093.5 | protein_coding | 1/1 | 154/414 | 104/240 | 35/79 | chr21 | 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 |
a0001a0003a0007others(4): Show | a0001c0001a0003c0003a0003c0010others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(11): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(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 | 71565611 | A | AGGCTGTG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(237): Show |
a0002a0003a0005others(6): Show | a0002c0002a0002c0005a0003c0003others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(12): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0005g0000others(12): Show | 240 | 468 | 0.5128 | 21 | c.27_ others(26): Show |
p.Gly others(32): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 73/1173 | 48/609 | 16/202 | INFO_REALIGN_3_PRIME | chr11 | 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 |
a0002a0003a0004others(7): Show | a0002c0002a0002c0005a0003c0003others(8): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(13): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0005g0000others(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 | |
KRTAP5-1_chr11_1579342_1590283 | 1584674 | T | TCCCCCAC others(53): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(192): Show |
a0002a0004a0006others(2): Show | a0002c0002a0002c0018a0004c0004others(3): Show | a0002c0002t0001a0002c0018t0001a0004c0004t0001others(3): Show | a0002c0002t0001g0000a0002c0018t0001g0000a0004c0004t0001g0000others(3): Show | 195 | 429 | 0.4546 | 60 | c.516 others(67): Show |
p.Gly others(73): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 609/942 | 575/837 | 192/278 | chr11 | TogoVar | ||
KRTAP5-1_chr11_1579342_1590283 | 1584674 | T | TCCCCCAC others(113): Show |
disruptive_inframe_insertion | MODERATE | NA18956.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0000 | 1 | 429 | 0.0023 | 120 | c.575 others(127): Show |
p.Gly others(133): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 609/942 | 575/837 | 192/278 | chr11 | TogoVar | ||
KRTAP5-3_chr11_1602565_1613463 | 1607726 | C | CTTGCAGC others(80): Show |
disruptive_inframe_insertion | MODERATE | HG03927.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0000 | 1 | 427 | 0.0023 | 87 | c.573 others(94): Show |
p.Lys others(100): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 1/1 | 737/899 | 659/717 | 220/238 | chr11 | TogoVar | ||
KRTAP5-3_chr11_1602565_1613463 | 1607813 | T | TTTGCAGC others(110): Show |
disruptive_inframe_insertion | MODERATE | NA18975.hp1 | a0009 | a0009c0008 | a0009c0008t0002 | a0009c0008t0002g0000 | 1 | 427 | 0.0023 | 117 | c.456 others(124): Show |
p.Lys others(130): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 1/1 | 650/899 | 572/717 | 191/238 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621647 | T | TCCTTTGG others(98): Show |
disruptive_inframe_insertion | MODERATE | HG02647.hp2 HG03688.hp2 |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0009 | a0009c0009t0001g0000a0009c0009t0009g0000 | 2 | 427 | 0.0047 | 105 | c.446 others(112): Show |
p.Ser others(118): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 491/1181 | 446/687 | 149/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621710 | T | TTTGGAGC others(293): Show |
disruptive_inframe_insertion | MODERATE | NA19082.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0000 | 1 | 427 | 0.0023 | 300 | c.383 others(307): Show |
p.Lys others(313): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 428/1181 | 383/687 | 128/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621710 | T | TTTGGAGC others(173): Show |
disruptive_inframe_insertion | MODERATE | HG03516.hp2 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0000 | 1 | 427 | 0.0023 | 180 | c.383 others(187): Show |
p.Lys others(193): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 428/1181 | 383/687 | 128/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621710 | T | TTTGGAGC others(173): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0001a0006a0015others(1): Show | a0001c0001a0006c0006a0015c0016others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0006g0000others(9): Show | 207 | 427 | 0.4848 | 180 | c.383 others(187): Show |
p.Lys others(193): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 428/1181 | 383/687 | 128/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621716 | G | GCCCCCAC others(113): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG00733.hp1 HG01123.hp2 others(19): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0004a0004c0004t0010others(1): Show | a0004c0004t0003g0000a0004c0004t0004g0000a0004c0004t0010g0000others(1): Show | 22 | 427 | 0.0515 | 120 | c.377 others(127): Show |
p.Gly others(133): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 422/1181 | 377/687 | 126/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621746 | A | ACCCCCAC others(143): Show |
disruptive_inframe_insertion | MODERATE | HG03139.hp2 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0000 | 1 | 427 | 0.0023 | 150 | c.347 others(157): Show |
p.Gly others(163): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 392/1181 | 347/687 | 116/228 | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1629885 | A | AGGCCTTG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01243.hp2 | a0023 | a0023c0020 | a0023c0020t0005 | a0023c0020t0005g0000 | 1 | 445 | 0.0023 | 21 | c.49_ others(26): Show |
p.Gly others(32): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 116/1156 | 50/714 | 17/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1629927 | A | AGGCTGTG others(335): Show |
disruptive_inframe_insertion | MODERATE | HG03491.hp1 HG04115.hp1 |
a0013 | a0013c0015 | a0013c0015t0008 | a0013c0015t0008g0000 | 2 | 445 | 0.0045 | 342 | c.157 others(349): Show |
p.Cys others(353): 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 | 1629939 | T | TGGCTGTG others(23): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp2 HG00733.hp2 HG00741.hp2 others(16): Show |
a0005a0024 | a0005c0005a0024c0019 | a0005c0005t0004a0024c0019t0004 | a0005c0005t0004g0000a0024c0019t0004g0000 | 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 | 1629968 | G | GGGGCTGT others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00735.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0000 | 1 | 445 | 0.0023 | 12 | c.128 others(19): Show |
p.Gly others(23): 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 | 1629968 | G | GGGGCTGT others(26): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp1 | a0022 | a0022c0021 | a0022c0021t0001 | a0022c0021t0001g0000 | 1 | 445 | 0.0023 | 33 | c.128 others(40): Show |
p.Gly others(44): 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 | A | AGGCTGTG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(180): Show |
a0001a0008a0010others(5): Show | a0001c0001a0001c0007a0008c0011others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0001g0000a0001c0001t0006g0000a0001c0001t0007g0000others(12): Show | 183 | 445 | 0.4112 | 12 | c.137 others(19): Show |
p.Gly others(23): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 204/1156 | 138/714 | 46/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1629969 | A | AGGCTGTG others(152): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG01106.hp2 HG01167.hp1 |
a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0000 | 3 | 445 | 0.0067 | 159 | c.137 others(166): Show |
p.Gly others(170): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 204/1156 | 138/714 | 46/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1629969 | A | AGGCTGTG others(152): Show |
disruptive_inframe_insertion | MODERATE | HG00323.hp1 HG01516.hp1 HG02080.hp2 others(9): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0000 | 12 | 445 | 0.0270 | 159 | c.137 others(166): Show |
p.Gly others(170): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 204/1156 | 138/714 | 46/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1629969 | A | AGGCTGTG others(65): Show |
disruptive_inframe_insertion | MODERATE | HG01255.hp2 HG01261.hp1 HG01358.hp1 others(1): Show |
a0009 | a0009c0009 | a0009c0009t0004 | a0009c0009t0004g0000 | 4 | 445 | 0.0090 | 72 | c.157 others(79): Show |
p.Cys others(83): 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 | 1629969 | A | AGGCTGTG others(56): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 HG01884.hp2 HG02451.hp2 others(7): Show |
a0007 | a0007c0008 | a0007c0008t0005 | a0007c0008t0005g0000 | 10 | 445 | 0.0225 | 63 | c.157 others(70): Show |
p.Cys others(74): 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 | a0017 | a0017c0024 | a0017c0024t0009 | a0017c0024t0009g0000 | 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 |
a0001a0007a0010 | a0001c0001a0007c0007a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(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 | |
KRTAP5-7_chr11_71522267_71533669 | 71527629 | C | CCTGCTGC others(53): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(144): Show |
a0002a0004a0006others(1): Show | a0002c0002a0004c0004a0006c0006others(1): Show | a0002c0002t0002a0002c0002t0010a0004c0004t0002others(5): Show | a0002c0002t0002g0000a0002c0002t0010g0000a0004c0004t0002g0000others(5): Show | 147 | 460 | 0.3196 | 60 | c.336 others(67): Show |
p.Cys others(73): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 1/1 | 430/1403 | 396/498 | 132/165 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-7_chr11_71522267_71533669 | 71527629 | C | CCTGCTGC others(83): Show |
disruptive_inframe_insertion | MODERATE | HG01074.hp2 HG01243.hp1 HG01515.hp2 others(7): Show |
a0005a0011 | a0005c0005a0011c0009 | a0005c0005t0004a0005c0005t0005a0011c0009t0002 | a0005c0005t0004g0000a0005c0005t0005g0000a0011c0009t0002g0000 | 10 | 460 | 0.0217 | 90 | c.395 others(97): Show |
p.Cys others(103): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 1/1 | 430/1403 | 396/498 | 132/165 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-8_chr11_71533025_71544209 | 71538079 | A | AGGCTGTG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(249): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0003c0003t0001g0000others(4): Show | 252 | 442 | 0.5701 | 21 | c.30_ others(26): Show |
p.Cys others(32): Show |
KRTAP5-8 | ENSG00000241233.4 | transcript | ENST00000398534.4 | protein_coding | 1/1 | 82/1185 | 51/564 | 17/187 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-8_chr11_71533025_71544209 | 71538092 | G | GGCTGTGG others(35): Show |
disruptive_inframe_insertion | MODERATE | HG06807.hp2 NA20300.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0000 | 2 | 442 | 0.0045 | 42 | c.50_ others(47): Show |
p.Cys others(53): Show |
KRTAP5-8 | ENSG00000241233.4 | transcript | ENST00000398534.4 | protein_coding | 1/1 | 82/1185 | 51/564 | 17/187 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |