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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITSN2_chr2_24197864_24365536 | 24320525 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0037 | 1 | 224 | 0.0045 | -17 | c.32- others(32): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 2/39 | chr2 | TogoVar | |||||||
IYD_chr6_150364012_150410969 | 150367973 | CTTTCTTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG01192.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0054 others(15): Show |
18 | 414 | 0.0435 | -17 | c.-10 others(28): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1038 | chr6 | TogoVar | |||||||
JADE2_chr5_134520670_134588227 | 134587997 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(85): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0015 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0047 others(81): Show |
88 | 388 | 0.2268 | -17 | c.*86 others(28): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4771 | chr5 | TogoVar | |||||||
JAG1_chr20_10632684_10678999 | 10669547 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA18522.hp1 |
a0001 | a0001c0005a0001c0016 | a0001c0005t0006a0001c0016t0006 | a0001c0005t0006g0180 a0001c0016t0006g0129 |
2 | 412 | 0.0049 | -17 | c.387 others(34): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105163021 | AGGTCCAG others(10): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp2 |
a0001 | a0001c0001a0001c0032 | a0001c0001t0009a0001c0032t0009 | a0001c0001t0009g0049 a0001c0032t0009g0136 |
2 | 364 | 0.0055 | -17 | c.417 others(34): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
JAGN1_chr3_9885610_9899349 | 9891042 | CGCGTGGG others(10): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02148.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 400 | 0.0075 | -17 | c.89+ others(30): Show |
JAGN1 | ENSG00000171135.15 | transcript | ENST00000647897.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64897526 | GAGGGAGG others(10): Show |
G | intron_variant | MODIFIER | NA18974.hp1 NA19054.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 a0001c0002t0002g0142 |
2 | 326 | 0.0061 | -17 | c.-77 others(36): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 4981946 | AATGATGT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0053 | 1 | 364 | 0.0028 | -17 | c.-37 others(28): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 3325 | chr9 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5005083 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01168.hp2 others(14): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0005a0001c0002t0042a0001c0003t0003others(5): Show | a0001c0002t0005g0287 a0001c0002t0042g0022 a0001c0003t0003g0312 others(14): Show |
17 | 364 | 0.0467 | -17 | c.-25 others(36): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5062500 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00738.hp1 others(53): Show |
a0001a0002 | a0001c0003a0001c0008a0001c0017others(1): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0005others(7): Show | a0001c0003t0003g0004 a0001c0003t0003g0156 a0001c0003t0003g0188 others(52): Show |
56 | 364 | 0.1539 | -17 | c.105 others(36): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5103221 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0018 | a0001c0018t0050 | a0001c0018t0050g0147 | 1 | 364 | 0.0028 | -17 | c.305 others(38): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17827717 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01123.hp1 HG02027.hp1 others(7): Show |
a0001a0002a0021 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0014a0001c0001t0023a0001c0001t0039others(6): Show | a0001c0001t0014g0083 a0001c0001t0014g0175 a0001c0001t0023g0328 others(7): Show |
10 | 414 | 0.0242 | -17 | c.320 others(34): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132080503 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01256.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0022a0002c0023a0003c0003others(6): Show | a0001c0022t0002a0002c0023t0001a0002c0023t0003others(10): Show | a0001c0022t0002g0062 a0002c0023t0001g0058 a0002c0023t0003g0073 others(17): Show |
20 | 158 | 0.1266 | -17 | c.-13 others(38): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132168870 | AGGCCATG others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0001c0015others(23): Show | a0001c0001t0001a0001c0013t0001a0001c0013t0016others(27): Show | a0001c0001t0001g0116 a0001c0013t0001g0094 a0001c0013t0001g0129 others(50): Show |
53 | 158 | 0.3354 | -17 | c.*94 others(26): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/24 | 1841 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25721273 | GAAAAGAA others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0107 | 1 | 328 | 0.0031 | -17 | c.*66 others(28): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 3712 | chr21 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27979366 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0002g0043 |
2 | 206 | 0.0097 | -17 | c.188 others(36): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28092290 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 206 | 0.0049 | -17 | c.115 others(36): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28115880 | AGGGAGCA others(10): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0030 |
2 | 206 | 0.0097 | -17 | c.115 others(36): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JDP2_chr14_75423022_75479107 | 75433195 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0051 | a0001c0001t0012g0162 a0001c0001t0051g0161 |
2 | 358 | 0.0056 | -17 | c.-23 others(34): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JDP2_chr14_75423022_75479107 | 75439256 | TTGGCTGT others(10): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0046 | a0001c0001t0025g0031 a0001c0001t0046g0031 |
2 | 358 | 0.0056 | -17 | c.201 others(34): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JDP2_chr14_75423022_75479107 | 75439261 | TGTGGTGG others(10): Show |
T | intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0231 | 1 | 358 | 0.0028 | -17 | c.201 others(34): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63246029 | GAGAAGAA others(10): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 310 | 0.0032 | -17 | c.447 others(36): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD8_chr16_676670_689334 | 678462 | GGGCCGGG others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0015 | 2 | 364 | 0.0055 | -17 | c.*43 others(28): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 3207 | chr16 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79247867 | TTATTTTA others(10): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02615.hp2 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0015a0005c0007t0030a0005c0007t0031others(1): Show | a0005c0007t0015g0188 a0005c0007t0015g0189 a0005c0007t0030g0187 others(2): Show |
5 | 342 | 0.0146 | -17 | c.103 others(38): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44132353 | CAGACACA others(10): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0243 | 1 | 338 | 0.0030 | -17 | c.117 others(38): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134709 | ATATTATA others(10): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01361.hp1 HG04115.hp2 others(5): Show |
a0002 | a0002c0002a0002c0005a0002c0018 | a0002c0002t0006a0002c0002t0015a0002c0002t0066others(3): Show | a0002c0002t0006g0171 a0002c0002t0015g0121 a0002c0002t0015g0130 others(5): Show |
8 | 338 | 0.0237 | -17 | c.117 others(38): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124227663 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG02257.hp1 others(4): Show |
a0001a0003 | a0001c0007a0001c0017a0001c0018others(3): Show | a0001c0007t0002a0001c0017t0005a0001c0018t0004others(3): Show | a0001c0007t0002g0019 a0001c0007t0002g0051 a0001c0017t0005g0043 others(4): Show |
7 | 116 | 0.0603 | -17 | c.74- others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124270529 | TTTTTTAA others(10): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03453.hp2 NA19240.hp1 |
a0001 | a0001c0012a0001c0041a0001c0042 | a0001c0012t0004a0001c0041t0003a0001c0042t0006 | a0001c0012t0004g0107 a0001c0041t0003g0108 a0001c0042t0006g0106 |
3 | 116 | 0.0259 | -17 | c.969 others(34): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124618086 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02145.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0007a0001c0029a0001c0033others(2): Show | a0001c0007t0002a0001c0029t0002a0001c0033t0001others(2): Show | a0001c0007t0002g0019 a0001c0029t0002g0109 a0001c0033t0001g0030 others(2): Show |
5 | 116 | 0.0431 | -17 | c.518 others(38): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124628742 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0010a0001c0016others(14): Show | a0001c0005t0001a0001c0010t0002a0001c0016t0011others(15): Show | a0001c0005t0001g0023 a0001c0005t0001g0035 a0001c0010t0002g0050 others(16): Show |
19 | 116 | 0.1638 | -17 | c.518 others(36): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124628754 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01175.hp1 others(14): Show |
a0001a0004a0009 | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0002a0001c0002t0024a0001c0004t0030others(12): Show | a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 others(14): Show |
17 | 116 | 0.1466 | -17 | c.518 others(36): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124668044 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0050 | a0001c0050t0003 | a0001c0050t0003g0005 | 1 | 116 | 0.0086 | -17 | c.670 others(34): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 47/59 | chr3 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 663204 | GAAAGCCT others(10): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01261.hp2 others(23): Show |
a0001a0002a0004others(7): Show | a0001c0055a0002c0002a0004c0011others(7): Show | a0001c0055t0008a0002c0002t0002a0002c0002t0003others(9): Show | a0001c0055t0008g0077 a0002c0002t0002g0124 a0002c0002t0002g0164 others(23): Show |
26 | 254 | 0.1024 | -17 | c.-83 others(36): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 710623 | AAAAAAAC others(10): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 | 1 | 254 | 0.0039 | -17 | c.38- others(30): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8318663 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
a0009 | a0009c0013 | a0009c0013t0004 | a0009c0013t0004g0050 a0009c0013t0004g0051 a0009c0013t0004g0052 others(1): Show |
4 | 406 | 0.0099 | -17 | c.*41 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3920 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346361 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0312 | 1 | 406 | 0.0025 | -17 | c.-31 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3100 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346365 | AAAAATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp2 NA19083.hp1 |
a0001a0002 | a0001c0033a0002c0002 | a0001c0033t0003a0002c0002t0001 | a0001c0033t0003g0195 a0002c0002t0001g0013 |
2 | 406 | 0.0049 | -17 | c.-31 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3104 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346369 | ATATATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp2 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0001g0190 others(25): Show |
29 | 406 | 0.0714 | -17 | c.-31 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3108 | chr19 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052963 | CCAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02738.hp2 HG04199.hp1 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0302 a0003c0004t0005g0304 a0003c0004t0005g0309 |
3 | 321 | 0.0094 | -17 | c.184 others(36): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00733.hp2 others(6): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0077 a0004c0005t0001g0078 a0004c0005t0001g0079 others(6): Show |
9 | 321 | 0.0280 | -17 | c.184 others(36): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46189031 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18981.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 a0001c0001t0002g0119 |
2 | 321 | 0.0062 | -17 | c.-90 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75642185 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01257.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0252 a0001c0001t0001g0253 others(9): Show |
15 | 380 | 0.0395 | -17 | c.63- others(30): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20061719 | GTATATAT others(10): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 374 | 0.0027 | -17 | c.304 others(36): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106994 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 374 | 0.0027 | -17 | c.852 others(34): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | chr3 | TogoVar | |||||||
KAT5_chr11_65707252_65724604 | 65720998 | CCCCCTCT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(129): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show |
132 | 442 | 0.2986 | -17 | c.*18 others(28): Show |
KAT5 | ENSG00000172977.13 | transcript | ENST00000341318.9 | protein_coding | 1395 | chr11 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42031617 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0111 | a0001c0001t0009g0283 a0001c0001t0111g0278 |
2 | 374 | 0.0054 | -17 | c.600 others(36): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2/16 | chr8 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42054247 | AAAAAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0154 | 1 | 374 | 0.0027 | -17 | c.-26 others(28): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2261 | chr8 | TogoVar | |||||||
KAT6B_chr10_74821600_75037624 | 74830752 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 236 | 0.0042 | -17 | c.-32 others(36): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830754 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 236 | 0.0042 | -17 | c.-32 others(36): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830756 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0085 others(4): Show |
7 | 236 | 0.0297 | -17 | c.-32 others(36): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |