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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNH4_chr17_42151891_42186142 | 42163289 | AGGGGCCT others(135): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA18939.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0050 | 1 | 324 | 0.0031 | -142 | c.247 others(12): Show |
p.Ile others(13): Show |
KCNH4 | ENSG00000089558.9 | transcript | ENST00000264661.4 | protein_coding | 14/17 | 2719/3788 | 2478/3054 | 826/1017 | chr17 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | GGCT | G | disruptive_inframe_deletion | MODERATE | HG01074.hp2 HG01255.hp2 HG01515.hp1 others(5): Show |
a0008 | a0008c0016a0008c0019a0008c0035 | a0008c0016t0003a0008c0016t0007a0008c0016t0107others(4): Show | a0008c0016t0003g0214 a0008c0016t0007g0209 a0008c0016t0007g0210 others(5): Show |
8 | 20 | 0.4000 | -3 | c.239 others(10): Show |
p.Gln others(5): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 239/2196 | 80/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | GGCTGCT | G | disruptive_inframe_deletion | MODERATE | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(7): Show |
a0007 | a0007c0017a0007c0020a0007c0021 | a0007c0017t0005a0007c0017t0022a0007c0017t0096others(6): Show | a0007c0017t0005g0216 a0007c0017t0022g0219 a0007c0017t0022g0220 others(7): Show |
10 | 22 | 0.4545 | -6 | c.236 others(13): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 236/2196 | 79/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | GGCTGCTG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG01169.hp1 | a0014 | a0014c0036 | a0014c0036t0006 | a0014c0036t0006g0225 | 1 | 13 | 0.0769 | -12 | c.230 others(19): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 230/2196 | 77/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869854 | TTGCTGCT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00741.hp2 HG01175.hp2 NA19007.hp1 |
a0001a0005 | a0001c0004a0005c0011 | a0001c0004t0036a0001c0004t0041a0005c0011t0006 | a0001c0004t0036g0073 a0001c0004t0041g0078 a0005c0011t0006g0195 |
3 | 234 | 0.0128 | -9 | c.102 others(16): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 427/13034 | 102/2196 | 34/731 | chr1 | TogoVar | |||
KCTD1_chr18_26449910_26553553 | 26548258 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG01255.hp1 HG02976.hp2 HG03139.hp1 others(6): Show |
a0003 | a0003c0005a0003c0010 | a0003c0005t0001a0003c0010t0003 | a0003c0005t0001g0005 a0003c0005t0001g0006 a0003c0005t0001g0007 others(6): Show |
9 | 336 | 0.0268 | -3 | c.276 others(10): Show |
p.Glu others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 295/3448 | 276/2598 | 92/865 | chr18 | TogoVar | |||
KDM6B_chr17_7829217_7859796 | 7846859 | TACC | T | disruptive_inframe_deletion | MODERATE | HG00621.hp1 HG02056.hp1 HG02074.hp2 others(11): Show |
a0007a0018a0035others(1): Show | a0007c0012a0007c0076a0007c0077others(3): Show | a0007c0012t0001a0007c0076t0001a0007c0077t0013others(3): Show | a0007c0012t0001g0015 a0007c0012t0001g0058 a0007c0012t0001g0069 others(10): Show |
14 | 20 | 0.7000 | -3 | c.789 others(10): Show |
p.Pro others(6): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 10/24 | 1310/6728 | 789/4932 | 263/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KDM6B_chr17_7829217_7859796 | 7846859 | TACCACC | T | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(51): Show |
a0002a0011a0034 | a0002c0003a0002c0008a0002c0079others(5): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0022others(7): Show | a0002c0003t0001g0001 a0002c0003t0001g0012 a0002c0003t0001g0014 others(43): Show |
54 | 60 | 0.9000 | -6 | c.786 others(13): Show |
p.Pro others(13): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 10/24 | 1307/6728 | 786/4932 | 262/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KDM6B_chr17_7829217_7859796 | 7848540 | TCACCAC | T | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(68): Show |
a0002a0007a0011others(6): Show | a0002c0003a0002c0008a0002c0079others(13): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0022others(15): Show | a0002c0003t0001g0001 a0002c0003t0001g0012 a0002c0003t0001g0014 others(59): Show |
71 | 383 | 0.1854 | -6 | c.228 others(15): Show |
p.Thr others(13): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 12/24 | 2801/6728 | 2280/4932 | 760/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KHDC3L_chr6_73357658_73369171 | 73363661 | GGGAGGCC others(62): Show |
G | disruptive_inframe_deletion | MODERATE | NA18993.hp1 NA19091.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001 | 2 | 432 | 0.0046 | -69 | c.473 others(76): Show |
p.Arg others(13): Show |
KHDC3L | ENSG00000203908.4 | transcript | ENST00000370367.4 | protein_coding | 3/3 | 545/1037 | 473/654 | 158/217 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
KIAA1614_chr1_180907897_180956614 | 180935876 | GCCACAGG others(74): Show |
G | disruptive_inframe_deletion | MODERATE | NA18989.hp2 | a0031 | a0031c0042 | a0031c0042t0084 | a0031c0042t0084g0051 | 1 | 428 | 0.0023 | -81 | c.196 others(90): Show |
p.His others(13): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 5/9 | 2315/9946 | 1968/3573 | 656/1190 | chr1 | TogoVar | |||
KIAA2026_chr9_5914022_6013482 | 5968648 | CTGCTACA others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG00544.hp1 | a0010 | a0010c0034 | a0010c0034t0012 | a0010c0034t0012g0217 | 1 | 372 | 0.0027 | -21 | c.156 others(30): Show |
p.Asn others(13): Show |
KIAA2026 | ENSG00000183354.12 | transcript | ENST00000399933.8 | protein_coding | 3/8 | 2277/7669 | 1562/6312 | 521/2103 | chr9 | TogoVar | |||
KIF1A_chr2_240708767_240825219 | 240757423 | ATCC | A | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(221): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0004others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0064 a0001c0001t0001g0086 a0001c0001t0001g0088 others(220): Show |
224 | 319 | 0.7022 | -3 | c.275 others(12): Show |
p.Glu others(6): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 27/49 | 2911/9131 | 2751/5376 | 917/1791 | chr2 | TogoVar | |||
KIFC3_chr16_57753217_57807491 | 57795086 | TGCACTTC others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG02451.hp1 HG03225.hp1 HG03471.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0280 a0002c0004t0001g0283 a0002c0004t0001g0284 others(1): Show |
4 | 390 | 0.0103 | -9 | c.219 others(16): Show |
p.Arg others(11): Show |
KIFC3 | ENSG00000140859.16 | transcript | ENST00000445690.7 | protein_coding | 3/20 | 388/3359 | 219/2481 | 73/826 | chr16 | TogoVar | |||
KLF13_chr15_31321835_31382899 | 31327505 | TGCC | T | disruptive_inframe_deletion | MODERATE | HG02738.hp1 NA18969.hp1 NA18977.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0025a0002c0003t0033 | a0002c0003t0001g0025 a0002c0003t0001g0127 a0002c0003t0001g0141 others(4): Show |
7 | 408 | 0.0172 | -3 | c.300 others(10): Show |
p.Pro others(6): Show |
KLF13 | ENSG00000169926.11 | transcript | ENST00000307145.4 | protein_coding | 1/2 | 678/6845 | 300/867 | 100/288 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
KLF16_chr19_1847399_1868579 | 1863126 | GGCGGCGG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG03041.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0068 | 1 | 396 | 0.0025 | -15 | c.357 others(22): Show |
p.Pro others(13): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 1/2 | 453/2901 | 357/759 | 119/252 | chr19 | TogoVar | |||
KLF17_chr1_44113821_44140140 | 44130707 | CCAA | C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(110): Show |
a0002 | a0002c0002a0002c0009a0002c0011 | a0002c0002t0002a0002c0002t0008a0002c0002t0014others(4): Show | a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0006 others(52): Show |
113 | 442 | 0.2557 | -3 | c.113 others(12): Show |
p.Asn others(6): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 3/4 | 1218/3160 | 1131/1170 | 377/389 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
KLF18_chr1_44132821_44146631 | 44139074 | TGCCCCCC others(326): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00639.hp1 HG01167.hp1 others(19): Show |
a0005a0009a0013others(3): Show | a0005c0005a0009c0009a0013c0019others(3): Show | a0005c0005t0001a0009c0009t0001a0013c0019t0001others(3): Show | a0005c0005t0001g0005 a0009c0009t0001g0009 a0013c0019t0001g0019 others(3): Show |
22 | 426 | 0.0516 | -333 | c.222 others(9): Show |
p.Met others(19): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2557/3159 | 2225/3159 | 742/1052 | chr1 | TogoVar | |||
KLF18_chr1_44132821_44146631 | 44139383 | TTCTGGTT others(35): Show |
T | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(28): Show |
a0002a0011 | a0002c0002a0002c0023a0011c0011 | a0002c0002t0001a0002c0023t0001a0011c0011t0001 | a0002c0002t0001g0002 a0002c0023t0001g0024 a0011c0011t0001g0011 |
31 | 426 | 0.0728 | -42 | c.220 others(51): Show |
p.Thr others(13): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2248/3159 | 2207/3159 | 736/1052 | chr1 | TogoVar | |||
KLF18_chr1_44132821_44146631 | 44139587 | TAGAGGGC others(35): Show |
T | disruptive_inframe_deletion | MODERATE | NA18984.hp2 | a0021 | a0021c0029 | a0021c0029t0001 | a0021c0029t0001g0030 | 1 | 426 | 0.0023 | -42 | c.200 others(51): Show |
p.Cys others(13): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2044/3159 | 2003/3159 | 668/1052 | chr1 | TogoVar | |||
KLF18_chr1_44132821_44146631 | 44140267 | CTGGTTAC others(77): Show |
C | disruptive_inframe_deletion | MODERATE | NA18906.hp1 | a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0025 | 1 | 426 | 0.0023 | -84 | c.128 others(93): Show |
p.Ala others(13): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 1364/3159 | 1281/3159 | 427/1052 | chr1 | TogoVar | |||
KLF4_chr9_107479852_107494769 | 107487627 | TCAGGGCT others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00741.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0018 | 1 | 426 | 0.0023 | -51 | c.716 others(58): Show |
p.Gly others(13): Show |
KLF4 | ENSG00000136826.15 | transcript | ENST00000374672.5 | protein_coding | 3/5 | 1363/2936 | 716/1440 | 239/479 | chr9 | TogoVar | |||
KLHDC7B_chr22_50540899_50556023 | 50547870 | CCATCCCC others(65): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(264): Show |
a0001a0004a0013others(3): Show | a0001c0001a0001c0005a0001c0006others(35): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(42): Show | a0001c0001t0001g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 others(42): Show |
267 | 423 | 0.6312 | -72 | c.168 others(81): Show |
p.Leu others(13): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 1/1 | 2033/5125 | 1688/3708 | 563/1235 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
KLHDC7B_chr22_50540899_50556023 | 50547883 | TAACCCCA others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01074.hp1 HG01243.hp1 HG04199.hp1 others(1): Show |
a0006a0010 | a0006c0028a0006c0077a0010c0059 | a0006c0028t0007a0006c0077t0007a0010c0059t0005 | a0006c0028t0007g0000 a0006c0077t0007g0000 a0010c0059t0005g0000 |
4 | 430 | 0.0093 | -12 | c.164 others(21): Show |
p.Val others(13): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 1/1 | 1994/5125 | 1649/3708 | 550/1235 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
KLHDC7B_chr22_50540899_50556023 | 50547927 | GCCCTAAC others(113): Show |
G | disruptive_inframe_deletion | MODERATE | HG01192.hp2 HG02015.hp2 HG02074.hp1 |
a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0000 | 3 | 430 | 0.0070 | -120 | c.168 others(9): Show |
p.Leu others(13): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 1/1 | 2033/5125 | 1688/3708 | 563/1235 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
KLHDC7B_chr22_50540899_50556023 | 50547999 | GCCCCAAC others(41): Show |
G | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(79): Show |
a0002a0006a0008others(2): Show | a0002c0002a0002c0039a0002c0043others(15): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0020others(18): Show | a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0002t0020g0000 others(18): Show |
82 | 430 | 0.1907 | -48 | c.178 others(57): Show |
p.Pro others(13): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 1/1 | 2133/5125 | 1788/3708 | 596/1235 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
KMT2D_chr12_49013978_49065794 | 49051373 | CAGGTGTG others(20): Show |
C | disruptive_inframe_deletion | MODERATE | HG01167.hp2 HG01169.hp2 HG02486.hp1 others(2): Show |
a0006a0018 | a0006c0009a0018c0075 | a0006c0009t0001a0006c0009t0002a0018c0075t0002 | a0006c0009t0001g0038 a0006c0009t0001g0039 a0006c0009t0001g0041 others(2): Show |
5 | 300 | 0.0167 | -27 | c.228 others(36): Show |
p.Ser others(13): Show |
KMT2D | ENSG00000167548.18 | transcript | ENST00000301067.12 | protein_coding | 11/55 | 3528/20635 | 2283/16614 | 761/5537 | chr12 | TogoVar | |||
KMT2D_chr12_49013978_49065794 | 49051406 | TGGCTCCT others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG02109.hp2 NA19240.hp2 |
a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0016 | 2 | 300 | 0.0067 | -27 | c.225 others(36): Show |
p.His others(13): Show |
KMT2D | ENSG00000167548.18 | transcript | ENST00000301067.12 | protein_coding | 11/55 | 3495/20635 | 2250/16614 | 750/5537 | chr12 | TogoVar | |||
KMT2D_chr12_49013978_49065794 | 49051568 | TGAGTCCT others(20): Show |
T | disruptive_inframe_deletion | MODERATE | NA18988.hp2 | a0038 | a0038c0029 | a0038c0029t0002 | a0038c0029t0002g0067 | 1 | 300 | 0.0033 | -27 | c.208 others(36): Show |
p.Pro others(13): Show |
KMT2D | ENSG00000167548.18 | transcript | ENST00000301067.12 | protein_coding | 11/55 | 3333/20635 | 2088/16614 | 696/5537 | chr12 | TogoVar | |||
KMT5B_chr11_68149863_68218296 | 68157814 | GTCA | G | disruptive_inframe_deletion | MODERATE | HG02896.hp2 HG02922.hp1 HG03516.hp2 |
a0002a0003 | a0002c0010a0003c0005 | a0002c0010t0003a0003c0005t0003 | a0002c0010t0003g0185 a0003c0005t0003g0183 a0003c0005t0003g0184 |
3 | 326 | 0.0092 | -3 | c.252 others(12): Show |
p.Asp others(6): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 11/11 | 2766/5718 | 2529/2658 | 843/885 | chr11 | TogoVar | |||
KRI1_chr19_10548085_10571010 | 10560338 | ATCTTCCT others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG02280.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0009 | a0009c0013 | a0009c0013t0001a0009c0013t0009 | a0009c0013t0001g0023 a0009c0013t0009g0033 |
5 | 404 | 0.0124 | -12 | c.762 others(19): Show |
p.Glu others(13): Show |
KRI1 | ENSG00000129347.21 | transcript | ENST00000312962.12 | protein_coding | 9/19 | 784/2989 | 762/2112 | 254/703 | chr19 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818999 | GCCGCCGC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG00438.hp1 HG00621.hp2 HG00673.hp1 others(37): Show |
a0006a0008a0021 | a0006c0006a0008c0010a0021c0028 | a0006c0006t0001a0008c0010t0001a0021c0028t0001 | a0006c0006t0001g0004 a0008c0010t0001g0010 a0021c0028t0001g0039 |
40 | 424 | 0.0943 | -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 |
a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0019 | 2 | 418 | 0.0048 | -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 | |||
KRT18_chr12_52944118_52957906 | 52949359 | CCTGGCCA others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 406 | 0.0025 | -24 | c.192 others(31): Show |
p.Thr others(11): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 1/7 | 248/1413 | 192/1293 | 64/430 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
KRT1_chr12_52669736_52685407 | 52675527 | GAGCCATA others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG03471.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0047 | 1 | 396 | 0.0025 | -27 | c.157 others(36): Show |
p.Tyr others(13): Show |
KRT1 | ENSG00000167768.4 | transcript | ENST00000252244.3 | protein_coding | 9/9 | 1659/2451 | 1574/1935 | 525/644 | chr12 | TogoVar | |||
KRT1_chr12_52669736_52685407 | 52680016 | TCCACCAA others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02622.hp1 NA18971.hp1 |
a0007 | a0007c0014a0007c0015 | a0007c0014t0001a0007c0015t0001 | a0007c0014t0001g0028 a0007c0015t0001g0027 |
2 | 396 | 0.0051 | -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 | |||
KRT3_chr12_52784685_52801117 | 52795629 | ACCAAAGC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(138): Show |
a0001a0011 | a0001c0001a0001c0017a0001c0029others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(26): Show |
141 | 452 | 0.3119 | -18 | c.396 others(25): Show |
p.Gly others(13): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 1/9 | 488/2319 | 396/1887 | 132/628 | chr12 | TogoVar | |||
KRT77_chr12_52684626_52708524 | 52691336 | TCCGCCGC others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp2 HG01516.hp1 |
a0015a0016 | a0015c0022a0016c0020 | a0015c0022t0001a0016c0020t0001 | a0015c0022t0001g0089 a0016c0020t0001g0104 |
2 | 418 | 0.0048 | -24 | c.154 others(33): Show |
p.Ser others(13): Show |
KRT77 | ENSG00000189182.10 | transcript | ENST00000341809.8 | protein_coding | 9/9 | 1655/3366 | 1542/1737 | 514/578 | chr12 | TogoVar | |||
KRT83_chr12_52309301_52326398 | 52317956 | ACTT | A | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02258.hp2 HG02818.hp2 others(2): Show |
a0006a0011 | a0006c0007a0011c0023 | a0006c0007t0003a0011c0023t0003 | a0006c0007t0003g0017 a0011c0023t0003g0051 |
5 | 426 | 0.0117 | -3 | c.605 others(10): Show |
p.Glu others(6): Show |
KRT83 | ENSG00000170523.3 | transcript | ENST00000293670.3 | protein_coding | 3/9 | 670/1875 | 605/1482 | 202/493 | chr12 | TogoVar | |||
KRTAP1-1_chr17_41035541_41046450 | 41041248 | GCAGCAGC others(131): Show |
G | disruptive_inframe_deletion | MODERATE | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(57): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0000 a0004c0004t0001g0000 |
60 | 402 | 0.1493 | -138 | c.12_ others(6): Show |
p.Gln others(10): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 202/910 | 12/534 | 4/177 | chr17 | 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 | |||
KRTAP1-5_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 | |||
KRTAP10-10_chr21_44632356_44643455 | 44637641 | ACCAGCAG others(149): Show |
A | disruptive_inframe_deletion | MODERATE | HG02886.hp1 | a0023 | a0023c0044 | a0023c0044t0002 | a0023c0044t0002g0000 | 1 | 436 | 0.0023 | -156 | c.246 others(7): Show |
p.Asp others(12): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 308/1100 | 246/756 | 82/251 | INFO_REALIGN_3_PRIME | chr21 | 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(7): Show | a0001c0002a0001c0011a0001c0019others(17): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0012others(21): Show | a0001c0002t0001g0000 a0001c0002t0004g0000 a0001c0002t0012g0000 others(21): Show |
196 | 436 | 0.4495 | -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 |
a0005a0012a0020others(1): Show | a0005c0005a0005c0007a0005c0008others(3): Show | a0005c0005t0008a0005c0005t0009a0005c0007t0008others(5): Show | a0005c0005t0008g0000 a0005c0005t0009g0000 a0005c0007t0008g0000 others(5): Show |
15 | 436 | 0.0344 | -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 | ||
KRTAP10-11_chr21_44641414_44652650 | 44646758 | TGTGCCTG others(260): Show |
T | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0000 | 1 | 420 | 0.0024 | -267 | c.326 others(7): Show |
p.Cys others(13): Show |
KRTAP10-11 | ENSG00000243489.4 | transcript | ENST00000334670.9 | protein_coding | 1/1 | 371/1237 | 326/897 | 109/298 | INFO_REALIGN_3_PRIME | chr21 | 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 | |||
KRTAP10-4_chr21_44568729_44580371 | 44573877 | CCTGCTGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG01081.hp1 HG01258.hp1 HG01884.hp2 others(27): Show |
a0005a0007a0009others(5): Show | a0005c0011a0005c0017a0005c0045others(9): Show | a0005c0011t0005a0005c0017t0002a0005c0045t0002others(10): Show | a0005c0011t0005g0000 a0005c0017t0002g0000 a0005c0045t0002g0000 others(10): Show |
30 | 474 | 0.0633 | -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 | 44574003 | CCAGCTCC others(350): Show |
C | disruptive_inframe_deletion | MODERATE | HG01496.hp2 HG06807.hp1 |
a0016 | a0016c0019 | a0016c0019t0009 | a0016c0019t0009g0000 | 2 | 474 | 0.0042 | -357 | c.290 others(7): Show |
p.Leu others(12): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 320/1643 | 290/1206 | 97/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
KRTAP10-4_chr21_44568729_44580371 | 44574187 | AGCTTGCT others(338): Show |
A | disruptive_inframe_deletion | MODERATE | NA18992.hp1 | a0019 | a0019c0029 | a0019c0029t0001 | a0019c0029t0001g0000 | 1 | 474 | 0.0021 | -345 | c.447 others(7): Show |
p.Pro others(13): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 477/1643 | 447/1206 | 149/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |