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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP210_chr3_13311235_13425322 | 13311940 | A | ACACCACC others(14): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG03041.hp2 HG03486.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 others(1): Show |
4 | 326 | 0.0123 | 21 | c.*57 others(32): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 4294 | chr3 | TogoVar | |||||||
NUP214_chr9_131120586_131239663 | 131193629 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02145.hp2 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0001a0002c0002t0001 | a0001c0007t0001g0088 a0002c0002t0001g0158 |
2 | 234 | 0.0086 | 21 | c.365 others(40): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131196025 | T | TCCCTCTC others(14): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 234 | 0.0043 | 21 | c.372 others(38): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 28/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131206148 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0170 a0001c0001t0001g0189 others(8): Show |
11 | 234 | 0.0470 | 21 | c.559 others(40): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0064 | 1 | 234 | 0.0043 | 21 | c.590 others(38): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131223727 | A | ATTTATTT others(14): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0015 | a0015c0024 | a0015c0024t0005 | a0015c0024t0005g0003 | 1 | 234 | 0.0043 | 21 | c.590 others(38): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP35_chr2_183119443_183166680 | 183121915 | T | TTTATTAT others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(54): Show |
68 | 402 | 0.1692 | 21 | c.-25 others(32): Show |
NUP35 | ENSG00000163002.13 | transcript | ENST00000295119.9 | protein_coding | 2527 | chr2 | TogoVar | |||||||
NUP35_chr2_183119443_183166680 | 183138269 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | 402 | 0.0050 | 21 | c.397 others(38): Show |
NUP35 | ENSG00000163002.13 | transcript | ENST00000295119.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808456 | T | TATATAGT others(14): Show |
intron_variant | MODIFIER | HG02818.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0015 a0001c0004t0015g0017 |
2 | 378 | 0.0053 | 21 | c.489 others(38): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56815865 | A | ACTGCTGC others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18943.hp1 |
a0001a0005 | a0001c0004a0005c0024 | a0001c0004t0005a0005c0024t0018 | a0001c0004t0005g0036 a0005c0024t0018g0010 |
2 | 378 | 0.0053 | 21 | c.490 others(38): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56815881 | C | CTGCTGCT others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0027a0001c0001t0028others(1): Show | a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 others(8): Show |
11 | 378 | 0.0291 | 21 | c.490 others(38): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56815899 | G | GTGCTGCT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01071.hp1 others(31): Show |
a0001a0007a0008 | a0001c0001a0001c0005a0007c0013others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0016others(4): Show | a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 others(31): Show |
34 | 378 | 0.0900 | 21 | c.490 others(38): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56827044 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0340 | 1 | 378 | 0.0027 | 21 | c.795 others(38): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56827069 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0358 a0001c0001t0003g0374 |
2 | 378 | 0.0053 | 21 | c.795 others(38): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 8/21 | chr16 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3707738 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp2 others(39): Show |
a0001a0010a0021others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0081 others(39): Show |
42 | 342 | 0.1228 | 21 | c.274 others(40): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 20/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3724780 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01167.hp2 HG02056.hp2 others(18): Show |
a0001a0010a0016others(1): Show | a0001c0001a0001c0002a0010c0014others(2): Show | a0001c0001t0001a0001c0002t0001a0010c0014t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0002t0001g0079 others(18): Show |
21 | 342 | 0.0614 | 21 | c.184 others(38): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 15/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3729715 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0047 |
2 | 342 | 0.0059 | 21 | c.173 others(40): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 14/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3769365 | G | GCGGGGAG others(14): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 342 | 0.0029 | 21 | c.785 others(36): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 7/32 | chr11 | TogoVar | |||||||
NUPR1_chr16_28527708_28543974 | 28535555 | C | CCTTCTTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0079 | 1 | 368 | 0.0027 | 21 | c.*21 others(32): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2463 | chr16 | TogoVar | ||||||
NUTM2E_chr10_79821739_79855878 | 79826383 | G | GGGCGGCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(12): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0004a0003c0007others(5): Show | a0001c0001t0008a0003c0004t0002a0003c0007t0002others(6): Show | a0001c0001t0008g0063 a0003c0004t0002g0114 a0003c0004t0002g0120 others(11): Show |
15 | 412 | 0.0364 | 21 | c.-37 others(32): Show |
NUTM2E | ENSG00000228570.8 | transcript | ENST00000429984.5 | protein_coding | 355 | chr10 | TogoVar | |||||||
NUTM2G_chr9_96923843_96944416 | 96930872 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0157 | 1 | 374 | 0.0027 | 21 | c.17- others(34): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NVL_chr1_224222345_224335172 | 224254093 | A | AGTAGGCA others(14): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0099 | 1 | 284 | 0.0035 | 21 | c.218 others(40): Show |
NVL | ENSG00000143748.18 | transcript | ENST00000281701.11 | protein_coding | 18/22 | chr1 | TogoVar | |||||||
NVL_chr1_224222345_224335172 | 224276911 | T | TTGACACA others(14): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG02630.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0002t0002a0006c0008t0001 | a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0121 others(10): Show |
13 | 284 | 0.0458 | 21 | c.196 others(40): Show |
NVL | ENSG00000143748.18 | transcript | ENST00000281701.11 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17450797 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 408 | 0.0025 | 21 | c.*48 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 4627 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453091 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 408 | 0.0025 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2333 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453115 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0033 | 1 | 408 | 0.0025 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2309 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453115 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 408 | 0.0025 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2309 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453115 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 408 | 0.0025 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2309 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453115 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 408 | 0.0049 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2309 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453115 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 NA19058.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0001a0002c0002t0002 | a0001c0006t0001g0034 a0002c0002t0002g0081 |
2 | 408 | 0.0049 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2309 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17453116 | T | TATATATA others(14): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0027 others(1): Show |
4 | 408 | 0.0098 | 21 | c.*25 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2308 | chr19 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17463795 | A | AAGGAGAA others(14): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | 21 | c.-29 others(32): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2870 | chr19 | TogoVar | |||||||
NXN_chr17_794310_984776 | 836963 | C | CTATTATT others(14): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0213 a0001c0001t0008g0192 |
2 | 242 | 0.0083 | 21 | c.361 others(40): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 839797 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0007 a0001c0001t0006g0123 |
2 | 242 | 0.0083 | 21 | c.361 others(40): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 843056 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0011 | 1 | 242 | 0.0041 | 21 | c.361 others(40): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949558 | T | TCCCCCCC others(14): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 242 | 0.0041 | 21 | c.360 others(40): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXPH1_chr7_8428609_8757961 | 8621490 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02040.hp1 HG03490.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0038 others(10): Show |
13 | 208 | 0.0625 | 21 | c.55- others(40): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NXPH2_chr2_138664157_138785390 | 138668090 | A | AGGATTTA others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0166 others(337): Show |
348 | 350 | 0.9943 | 21 | c.*28 others(32): Show |
NXPH2 | ENSG00000144227.5 | transcript | ENST00000272641.4 | protein_coding | 1066 | chr2 | TogoVar | |||||||
NXPH2_chr2_138664157_138785390 | 138707094 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0001 | a0001c0001t0003g0123 a0001c0001t0003g0161 a0001c0001t0006g0030 others(52): Show |
55 | 350 | 0.1571 | 21 | c.52- others(38): Show |
NXPH2 | ENSG00000144227.5 | transcript | ENST00000272641.4 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
NXPH4_chr12_57211794_57231449 | 57229183 | A | ATGTTCAC others(14): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 21 | c.*34 others(32): Show |
NXPH4 | ENSG00000182379.10 | transcript | ENST00000349394.6 | protein_coding | 2735 | chr12 | TogoVar | |||||||
NYAP2_chr2_225394710_225708654 | 225589520 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 192 | 0.0052 | 21 | c.161 others(40): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OBSCN_chr1_228203044_228383876 | 228258383 | G | GCAACAAC others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03041.hp2 HG03225.hp2 |
a0035a0060 | a0035c0024a0060c0071 | a0035c0024t0003a0060c0071t0003 | a0035c0024t0003g0284 a0035c0024t0003g0285 a0060c0071t0003g0311 |
3 | 320 | 0.0094 | 21 | c.486 others(40): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 16/115 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27896507 | T | TGCTCAAA others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0101 | 1 | 110 | 0.0091 | 21 | c.208 others(42): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27885769 | T | TATTTTAT others(14): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0014 | a0014c0018 | a0014c0018t0002 | a0014c0018t0002g0004 | 1 | 304 | 0.0033 | 21 | c.261 others(42): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | |||||||
ODAD2_chr10_27807168_28004079 | 27952074 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03492.hp1 |
a0001a0003 | a0001c0002a0003c0019 | a0001c0002t0002a0003c0019t0002 | a0001c0002t0002g0303 a0003c0019t0002g0190 |
2 | 304 | 0.0066 | 21 | c.138 others(40): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 10/19 | chr10 | TogoVar | |||||||
ODAD4_chr17_41925617_41971503 | 41930881 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 340 | 0.0029 | 21 | c.114 others(34): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ODAM_chr4_70190725_70209576 | 70204604 | C | CATCTTAG others(14): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 446 | 0.0022 | 21 | c.*45 others(30): Show |
ODAM | ENSG00000109205.17 | transcript | ENST00000683306.1 | protein_coding | 29 | chr4 | TogoVar | |||||||
ODF2_chr9_128451006_128506292 | 128470014 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 346 | 0.0029 | 21 | c.669 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 5/20 | chr9 | TogoVar | |||||||
ODF2_chr9_128451006_128506292 | 128470016 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0288 a0001c0001t0002g0088 |
2 | 346 | 0.0058 | 21 | c.669 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 5/20 | chr9 | TogoVar | |||||||
ODF2_chr9_128451006_128506292 | 128470018 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 346 | 0.0029 | 21 | c.669 others(36): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |