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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHDC10_chr7_130065534_130140705 | 130128889 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0282 | 1 | 386 | 0.0026 | 21 | c.980 others(36): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KLHDC10_chr7_130065534_130140705 | 130128889 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0091 | 1 | 386 | 0.0026 | 21 | c.980 others(36): Show |
KLHDC10 | ENSG00000128607.14 | transcript | ENST00000335420.10 | protein_coding | 8/9 | chr7 | TogoVar | |||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 | 1 | 208 | 0.0048 | 21 | c.*22 others(32): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 208 | 0.0048 | 21 | c.*22 others(32): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 208 | 0.0048 | 21 | c.*22 others(32): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | |||||||
KLHDC2_chr14_49763153_49791385 | 49766569 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG02155.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0027 others(8): Show |
11 | 336 | 0.0327 | 21 | c.-19 others(32): Show |
KLHDC2 | ENSG00000165516.11 | transcript | ENST00000298307.10 | protein_coding | 1583 | chr14 | TogoVar | |||||||
KLHDC7B_chr22_50540899_50556023 | 50555126 | T | TAAATAAA others(14): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0026 | a0026c0069 | a0026c0069t0001 | a0026c0069t0001g0000 | 1 | 432 | 0.0023 | 21 | c.*51 others(32): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 4104 | chr22 | TogoVar | |||||||
KLHDC7B_chr22_50540899_50556023 | 50555539 | T | TAAGTTTG others(14): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0025 | a0025c0061 | a0025c0061t0001 | a0025c0061t0001g0000 | 1 | 432 | 0.0023 | 21 | c.*55 others(32): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 4517 | chr22 | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 117962041 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0202 a0001c0002t0001g0205 |
2 | 207 | 0.0097 | 21 | c.51- others(38): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 2/7 | chrX | TogoVar | |||||||
KLHL13_chrX_117892813_118121810 | 117991137 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0049 a0001c0003t0001g0183 |
2 | 207 | 0.0097 | 21 | c.50+ others(38): Show |
KLHL13 | ENSG00000003096.15 | transcript | ENST00000540167.6 | protein_coding | 2/7 | chrX | TogoVar | |||||||
KLHL14_chr18_32667673_32778023 | 32773926 | G | GTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 NA20300.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0058 a0001c0001t0001g0151 a0001c0001t0004g0005 |
3 | 204 | 0.0147 | 21 | c.-13 others(32): Show |
KLHL14 | ENSG00000197705.10 | transcript | ENST00000359358.9 | protein_coding | 904 | chr18 | TogoVar | |||||||
KLHL18_chr3_47277944_47351816 | 47324298 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055 a0001c0001t0001g0180 a0001c0001t0002g0122 |
3 | 338 | 0.0089 | 21 | c.401 others(38): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69818219 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0172 | 1 | 182 | 0.0055 | 21 | c.141 others(42): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69903630 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0172 | 1 | 182 | 0.0055 | 21 | c.101 others(42): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
KLHL1_chr13_69695597_70113452 | 69983589 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03139.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0088 a0001c0001t0003g0144 a0001c0001t0004g0024 others(2): Show |
5 | 182 | 0.0275 | 21 | c.498 others(38): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
KLHL23_chr2_169728832_169756878 | 169740791 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0133 | a0001c0001t0029g0076 a0001c0001t0133g0075 |
2 | 400 | 0.0050 | 21 | c.121 others(38): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL28_chr14_44919324_44966947 | 44919468 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 a0001c0001t0004g0035 |
2 | 224 | 0.0089 | 21 | c.*95 others(32): Show |
KLHL28 | ENSG00000179454.14 | transcript | ENST00000396128.9 | protein_coding | 4855 | chr14 | TogoVar | |||||||
KLHL29_chr2_23380179_23713606 | 23701194 | C | CTCCTTTA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0017 others(129): Show |
132 | 160 | 0.8250 | 21 | c.210 others(40): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KLHL31_chr6_53642916_53670756 | 53665953 | G | GAAAAGAA others(14): Show |
upstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0221 | 1 | 420 | 0.0024 | 21 | c.-38 others(30): Show |
KLHL31 | ENSG00000124743.6 | transcript | ENST00000370905.4 | protein_coding | 198 | chr6 | TogoVar | |||||||
KLHL32_chr6_96919728_97145753 | 97055796 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0012 others(11): Show |
14 | 244 | 0.0574 | 21 | c.313 others(38): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 NA19074.hp2 NA19090.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0018a0002c0002t0107a0004c0003t0002 | a0001c0001t0018g0019 a0002c0002t0107g0153 a0004c0003t0002g0004 |
3 | 480 | 0.0063 | 21 | c.*79 others(32): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20420874 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 480 | 0.0021 | 21 | c.*79 others(32): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 4977 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AAAAAGAA others(14): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0012 | a0012c0015 | a0012c0015t0010 | a0012c0015t0010g0120 | 1 | 480 | 0.0021 | 21 | c.748 others(38): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20432926 | A | AGAAAGAA others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0006 | a0006c0006t0045 | a0006c0006t0045g0101 | 1 | 480 | 0.0021 | 21 | c.748 others(38): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
KLHL33_chr14_20420852_20441166 | 20436945 | A | AAGCTGGG others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(196): Show |
a0002a0003a0006others(19): Show | a0002c0002a0002c0039a0003c0004others(29): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0007others(96): Show | a0002c0002t0003g0028 a0002c0002t0003g0035 a0002c0002t0003g0136 others(164): Show |
199 | 480 | 0.4146 | 21 | c.-86 others(30): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 780 | chr14 | TogoVar | |||||||
KLHL38_chr8_123639442_123658801 | 123641417 | G | GACTAATT others(14): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0004 | a0004c0005 | a0004c0005t0046 | a0004c0005t0046g0112 | 1 | 446 | 0.0022 | 21 | c.*43 others(32): Show |
KLHL38 | ENSG00000175946.9 | transcript | ENST00000684634.1 | protein_coding | 3024 | chr8 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51018164 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02071.hp1 NA19000.hp2 |
a0003 | a0003c0004 | a0003c0004t0008a0003c0004t0021 | a0003c0004t0008g0135 a0003c0004t0008g0136 a0003c0004t0021g0134 |
3 | 450 | 0.0067 | 21 | c.88+ others(34): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
KLK10_chr19_51007739_51024709 | 51020235 | A | AGAGAGAG others(14): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0101 | 1 | 450 | 0.0022 | 21 | c.-61 others(30): Show |
KLK10 | ENSG00000129451.12 | transcript | ENST00000358789.8 | protein_coding | 527 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51018164 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG02071.hp1 NA19000.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0108 a0001c0001t0002g0002 a0002c0002t0001g0025 |
3 | 456 | 0.0066 | 21 | c.*43 others(32): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 4071 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51020235 | A | AGAGAGAG others(14): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 456 | 0.0022 | 21 | c.*23 others(32): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 2000 | chr19 | TogoVar | |||||||
KLK11_chr19_51017236_51031616 | 51020240 | G | GAGAGAGA others(14): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 456 | 0.0022 | 21 | c.*23 others(32): Show |
KLK11 | ENSG00000167757.14 | transcript | ENST00000453757.8 | protein_coding | 1995 | chr19 | TogoVar | |||||||
KLK14_chr19_51072897_51087887 | 51082161 | A | ACCCATGC others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 2 | 444 | 0.0045 | 21 | c.40+ others(34): Show |
KLK14 | ENSG00000129437.11 | transcript | ENST00000650543.2 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959854 | G | GAGGAGGA others(14): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 316 | 0.0032 | 21 | c.583 others(36): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLLN_chr10_87854158_87868533 | 87858636 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0000 | 1 | 430 | 0.0023 | 21 | c.*33 others(32): Show |
KLLN | ENSG00000227268.5 | transcript | ENST00000445946.5 | protein_coding | 521 | chr10 | TogoVar | |||||||
KLRG1_chr12_8984546_9015751 | 9011468 | G | GGGACATT others(14): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01106.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0177 a0001c0002t0002g0178 |
16 | 364 | 0.0440 | 21 | c.*19 others(32): Show |
KLRG1 | ENSG00000139187.10 | transcript | ENST00000356986.8 | protein_coding | 718 | chr12 | TogoVar | |||||||
KMO_chr1_241527378_241600642 | 241539383 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 others(62): Show |
65 | 422 | 0.1540 | 21 | c.54+ others(36): Show |
KMO | ENSG00000117009.12 | transcript | ENST00000366559.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152226219 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 172 | 0.0058 | 21 | c.297 others(40): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 18/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152249673 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0068 | 1 | 172 | 0.0058 | 21 | c.181 others(38): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 13/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152253514 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0083 | 1 | 172 | 0.0058 | 21 | c.130 others(38): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 9/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152385611 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 172 | 0.0058 | 21 | c.162 others(40): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 1/58 | chr7 | TogoVar | |||||||
KMT2D_chr12_49013978_49065794 | 49033872 | T | TTGCTGTT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG03927.hp2 | a0028 | a0028c0045 | a0028c0045t0001 | a0028c0045t0001g0124 | 1 | 302 | 0.0033 | 21 | c.108 others(32): Show |
p.Gln others(15): Show |
KMT2D | ENSG00000167548.18 | transcript | ENST00000301067.12 | protein_coding | 40/55 | 12051/20635 | 10832/16614 | 3611/5537 | chr12 | TogoVar | |||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 304 | 0.0033 | 21 | c.498 others(38): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02155.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0151 a0001c0001t0001g0174 |
3 | 304 | 0.0099 | 21 | c.498 others(38): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071608 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18941.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0152 a0001c0001t0001g0157 |
3 | 304 | 0.0099 | 21 | c.498 others(38): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KMT2E_chr7_105009205_105120019 | 105071609 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 304 | 0.0033 | 21 | c.498 others(38): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 6/26 | chr7 | TogoVar | |||||||
KNG1_chr3_186712359_186749410 | 186725543 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0002a0009 | a0002c0002a0002c0010a0009c0019 | a0002c0002t0002a0002c0010t0006a0002c0010t0024others(1): Show | a0002c0002t0002g0235 a0002c0010t0006g0186 a0002c0010t0006g0187 others(3): Show |
6 | 430 | 0.0140 | 21 | c.564 others(36): Show |
KNG1 | ENSG00000113889.14 | transcript | ENST00000644859.2 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KNSTRN_chr15_40377721_40399288 | 40397480 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 374 | 0.0027 | 21 | c.*38 others(32): Show |
KNSTRN | ENSG00000128944.14 | transcript | ENST00000249776.13 | protein_coding | 3193 | chr15 | TogoVar | |||||||
KNTC1_chr12_122522249_122631396 | 122550169 | A | ACATATTT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0282 a0001c0010t0001g0283 a0001c0010t0001g0284 |
3 | 320 | 0.0094 | 21 | c.108 others(38): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 13/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KNTC1_chr12_122522249_122631396 | 122550169 | A | ACATATTT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(158): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0016others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(24): Show | a0001c0001t0001g0011 a0001c0001t0001g0111 a0001c0001t0001g0112 others(157): Show |
161 | 320 | 0.5031 | 21 | c.108 others(38): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 13/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KNTC1_chr12_122522249_122631396 | 122554076 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 320 | 0.0031 | 21 | c.127 others(40): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 16/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |