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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCH_chr15_67249786_67506804 | 67352556 | T | TGAAAGTT others(311): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 276 | 0.0036 | 318 | c.638 others(335): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 252 | 0.0040 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 252 | 0.0040 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0226 |
2 | 252 | 0.0079 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 252 | 0.0040 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0158 a0001c0001t0008g0111 |
2 | 252 | 0.0079 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 252 | 0.0040 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0194 |
2 | 252 | 0.0079 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0105 a0001c0001t0001g0147 |
3 | 252 | 0.0119 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 252 | 0.0040 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(311): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 252 | 0.0040 | 318 | c.10- others(335): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQSEC1_chr3_12892043_13078429 | 12892986 | C | CCACAACC others(311): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0127 | 1 | 250 | 0.0040 | 318 | c.*79 others(329): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 4056 | chr3 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10615935 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0213 | 1 | 278 | 0.0036 | 318 | c.144 others(337): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 10/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10615935 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01071.hp1 others(52): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0004g0090 a0001c0001t0004g0223 a0001c0002t0002g0107 others(51): Show |
55 | 278 | 0.1978 | 318 | c.144 others(337): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 10/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077220 | A | AATATATA others(311): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 344 | 0.0029 | 318 | c.25- others(333): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10208462 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 292 | 0.0034 | 318 | c.425 others(335): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA6_chr2_172422586_172511459 | 172451994 | T | TCCTCCCT others(311): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(9): Show |
a0002 | a0002c0004a0002c0005 | a0002c0004t0007a0002c0005t0003a0002c0005t0021others(2): Show | a0002c0004t0007g0338 a0002c0004t0007g0339 a0002c0005t0003g0016 others(9): Show |
12 | 352 | 0.0341 | 318 | c.183 others(337): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79269100 | T | TATCTTCT others(311): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 |
a0005 | a0005c0007 | a0005c0007t0015 | a0005c0007t0015g0188 a0005c0007t0015g0189 |
2 | 342 | 0.0059 | 318 | c.103 others(337): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNH5_chr14_62694464_63050458 | 62759565 | T | TAGGGTAT others(311): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 224 | 0.0045 | 318 | c.201 others(339): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 10/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162788025 | A | ACCCTAAT others(311): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 100 | 0.0100 | 318 | c.307 others(337): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162822107 | A | AAAATTTT others(311): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02451.hp2 HG02523.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(2): Show |
5 | 100 | 0.0500 | 318 | c.307 others(337): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234504 | C | CATATATT others(311): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 80 | 0.0125 | 318 | c.62- others(337): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(311): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 80 | 0.0125 | 318 | c.62- others(337): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(311): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0019 | 1 | 80 | 0.0125 | 318 | c.62- others(337): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(311): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 80 | 0.0125 | 318 | c.62- others(337): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ14_chr19_48450574_48471980 | 48453642 | T | TCAGGACC others(311): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 392 | 0.0026 | 318 | c.-22 others(329): Show |
KCNJ14 | ENSG00000182324.7 | transcript | ENST00000342291.3 | protein_coding | 1931 | chr19 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37685517 | T | TAAAAATA others(311): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02165.hp1 HG02897.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0013a0001c0001t0030a0001c0001t0090others(6): Show | a0001c0001t0013g0167 a0001c0001t0030g0130 a0001c0001t0090g0157 others(6): Show |
9 | 198 | 0.0455 | 318 | c.946 others(337): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37685517 | T | TAAAAATA others(311): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0160 | a0001c0002t0160g0162 | 1 | 198 | 0.0051 | 318 | c.946 others(337): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNJ9_chr1_160076538_160095563 | 160077875 | A | AGGCCACA others(311): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02083.hp2 HG02132.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0003g0001 others(2): Show |
5 | 430 | 0.0116 | 318 | c.-39 others(329): Show |
KCNJ9 | ENSG00000162728.5 | transcript | ENST00000368088.4 | protein_coding | 3662 | chr1 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TATATATA others(311): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 232 | 0.0043 | 318 | c.-67 others(337): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCTD14_chr11_78010715_78028276 | 78025012 | T | TTCCATTA others(311): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0018 a0001c0002t0004g0041 |
7 | 468 | 0.0150 | 318 | c.-17 others(329): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1737 | chr11 | TogoVar | |||||||
KDR_chr4_55073481_55130595 | 55126939 | T | TCCAAGCA others(311): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0026a0003c0003 | a0001c0001t0002a0001c0026t0002a0003c0003t0006 | a0001c0001t0002g0002 a0001c0026t0002g0089 a0003c0003t0006g0010 others(1): Show |
5 | 398 | 0.0126 | 318 | c.-16 others(329): Show |
KDR | ENSG00000128052.10 | transcript | ENST00000263923.5 | protein_coding | 1345 | chr4 | TogoVar | |||||||
KDR_chr4_55073481_55130595 | 55126939 | T | TCCAAGCA others(311): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 398 | 0.0025 | 318 | c.-16 others(329): Show |
KDR | ENSG00000128052.10 | transcript | ENST00000263923.5 | protein_coding | 1345 | chr4 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61881368 | T | TGAAAAGA others(311): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0229 | 1 | 244 | 0.0041 | 318 | c.810 others(337): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KIAA0753_chr17_6573147_6645711 | 6635337 | T | TAAAAGCA others(311): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02015.hp1 others(11): Show |
a0002 | a0002c0002a0002c0011a0002c0016 | a0002c0002t0002a0002c0011t0002a0002c0016t0002 | a0002c0002t0002g0122 a0002c0002t0002g0163 a0002c0002t0002g0210 others(11): Show |
14 | 370 | 0.0378 | 318 | c.-68 others(333): Show |
KIAA0753 | ENSG00000198920.11 | transcript | ENST00000361413.8 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94608474 | A | ATATTATA others(311): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0040 | 1 | 54 | 0.0185 | 318 | c.-15 others(339): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245618809 | A | ATGCTGTT others(311): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18999.hp1 |
a0001a0008 | a0001c0005a0008c0062 | a0001c0005t0073a0008c0062t0086 | a0001c0005t0073g0039 a0008c0062t0086g0148 |
2 | 160 | 0.0125 | 318 | c.209 others(337): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245619142 | T | TTGTCCAA others(311): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01109.hp2 others(1): Show |
a0001a0003a0005 | a0001c0002a0001c0004a0003c0030others(1): Show | a0001c0002t0019a0001c0004t0040a0003c0030t0074others(1): Show | a0001c0002t0019g0144 a0001c0004t0040g0096 a0003c0030t0074g0021 others(1): Show |
4 | 160 | 0.0250 | 318 | c.209 others(337): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF27_chr9_83829099_83926432 | 83848102 | G | GATATATC others(311): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 346 | 0.0029 | 318 | c.355 others(337): Show |
KIF27 | ENSG00000165115.15 | transcript | ENST00000297814.7 | protein_coding | 16/17 | chr9 | TogoVar | |||||||
KIF2A_chr5_62301206_62396025 | 62339523 | T | TCTGTATT others(311): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0021 a0001c0001t0002g0305 a0001c0001t0005g0021 |
3 | 370 | 0.0081 | 318 | c.65- others(333): Show |
KIF2A | ENSG00000068796.19 | transcript | ENST00000407818.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KIFBP_chr10_68983803_69021982 | 69014672 | A | ACCCTATT others(311): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 408 | 0.0025 | 318 | c.991 others(333): Show |
KIFBP | ENSG00000198954.9 | transcript | ENST00000361983.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIFBP_chr10_68983803_69021982 | 69014672 | A | ACCCTATT others(311): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 408 | 0.0025 | 318 | c.991 others(333): Show |
KIFBP | ENSG00000198954.9 | transcript | ENST00000361983.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KLHDC1_chr14_49688120_49758150 | 49743462 | A | AGAATGTA others(311): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0185 | 1 | 208 | 0.0048 | 318 | c.982 others(333): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316734 | T | TACATATA others(311): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 338 | 0.0030 | 318 | c.130 others(335): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KPNA1_chr3_122416902_122519939 | 122439505 | C | CAAAAGAG others(311): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0329 | 1 | 400 | 0.0025 | 318 | c.997 others(335): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
KRTAP11-1_chr21_30875644_30886580 | 30883679 | C | CAAAAAAT others(311): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 454 | 0.0066 | 318 | c.-21 others(329): Show |
KRTAP11-1 | ENSG00000182591.6 | transcript | ENST00000332378.6 | protein_coding | 2100 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742464 | G | GCCATAGC others(311): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 380 | 0.0026 | 318 | c.*44 others(329): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4329 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742464 | G | GCCATAGC others(311): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(107): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0004a0002c0005t0002 | a0002c0002t0002g0000 a0002c0002t0004g0000 a0002c0005t0002g0000 |
110 | 380 | 0.2895 | 318 | c.*44 others(329): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4329 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742464 | G | GCCATAGC others(311): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 3 | 380 | 0.0079 | 318 | c.*44 others(329): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4329 | chr21 | TogoVar | |||||||
KRTAP21-2_chr21_30741794_30752259 | 30742464 | G | GCCATAGC others(311): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 380 | 0.0026 | 318 | c.*44 others(329): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 4329 | chr21 | TogoVar |