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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP160_chr11_47773118_47853350 | 47831894 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(95): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 others(95): Show |
98 | 338 | 0.2899 | -7 | c.999 others(24): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 7/35 | chr11 | TogoVar | |||||||
NUP210_chr3_13311235_13425322 | 13339900 | ACGAGCCC | A | frameshift_variant | HIGH | NA18978.hp2 | a0028 | a0028c0030 | a0028c0030t0001 | a0028c0030t0001g0211 | 1 | 326 | 0.0031 | -7 | c.341 others(16): Show |
p.Gly others(6): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 25/40 | 3520/7206 | 3418/5664 | 1140/1887 | chr3 | TogoVar | |||
NUP214_chr9_131120586_131239663 | 131138286 | TCGGCTCA | T | intron_variant | MODIFIER | HG01106.hp2 HG02723.hp2 HG02897.hp1 |
a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0005 a0005c0012t0001g0006 a0005c0012t0001g0007 |
3 | 234 | 0.0128 | -7 | c.100 others(24): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 9/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131193629 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01361.hp2 HG01884.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0099 a0001c0004t0001g0165 a0001c0004t0001g0196 others(31): Show |
34 | 234 | 0.1453 | -7 | c.365 others(26): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 27/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP35_chr2_183119443_183166680 | 183120013 | TGTATATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(253): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(196): Show |
256 | 402 | 0.6368 | -7 | c.-44 others(18): Show |
NUP35 | ENSG00000163002.13 | transcript | ENST00000295119.9 | protein_coding | 4429 | chr2 | TogoVar | |||||||
NUP35_chr2_183119443_183166680 | 183130870 | GTTTAATA | G | intron_variant | MODIFIER | NA18969.hp2 NA18983.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0127 |
3 | 402 | 0.0075 | -7 | c.339 others(22): Show |
NUP35 | ENSG00000163002.13 | transcript | ENST00000295119.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NUP35_chr2_183119443_183166680 | 183149306 | CAAAATTT | C | intron_variant | MODIFIER | HG01256.hp1 HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0006g0023 |
3 | 402 | 0.0075 | -7 | c.398 others(24): Show |
NUP35 | ENSG00000163002.13 | transcript | ENST00000295119.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NUP37_chr12_102068103_102125114 | 102091399 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01071.hp1 others(53): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0009a0001c0008t0002 | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(27): Show |
56 | 398 | 0.1407 | -7 | c.450 others(24): Show |
NUP37 | ENSG00000075188.9 | transcript | ENST00000552283.6 | protein_coding | 5/9 | chr12 | TogoVar | |||||||
NUP37_chr12_102068103_102125114 | 102105861 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0049 a0001c0001t0004g0201 a0001c0001t0004g0202 others(5): Show |
8 | 398 | 0.0201 | -7 | c.282 others(24): Show |
NUP37 | ENSG00000075188.9 | transcript | ENST00000552283.6 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
NUP42_chr7_23177048_23206006 | 23183754 | TAAAAAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0029 a0001c0002t0002g0041 a0001c0002t0002g0063 others(12): Show |
17 | 364 | 0.0467 | -7 | c.122 others(24): Show |
NUP42 | ENSG00000136243.18 | transcript | ENST00000258742.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP42_chr7_23177048_23206006 | 23192546 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0148 others(1): Show |
7 | 364 | 0.0192 | -7 | c.446 others(24): Show |
NUP42 | ENSG00000136243.18 | transcript | ENST00000258742.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUP43_chr6_149719315_149751529 | 149750711 | GTGGAGTT | G | upstream_gene_variant | MODIFIER | HG02080.hp2 HG02602.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 a0001c0001t0003g0115 |
3 | 328 | 0.0092 | -7 | c.-42 others(18): Show |
NUP43 | ENSG00000120253.14 | transcript | ENST00000340413.7 | protein_coding | 4183 | chr6 | TogoVar | |||||||
NUP50_chr22_45158925_45193017 | 45180383 | ATTTTTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0017a0001c0001t0034others(4): Show | a0001c0001t0014g0262 a0001c0001t0014g0265 a0001c0001t0014g0269 others(7): Show |
10 | 432 | 0.0232 | -7 | c.100 others(24): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 5/7 | chr22 | TogoVar | |||||||
NUP50_chr22_45158925_45193017 | 45183657 | ATAGTTTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 a0001c0001t0009g0173 a0001c0001t0009g0254 others(2): Show |
7 | 432 | 0.0162 | -7 | c.120 others(24): Show |
NUP50 | ENSG00000093000.19 | transcript | ENST00000347635.9 | protein_coding | 7/7 | chr22 | TogoVar | |||||||
NUP54_chr4_76109664_76153397 | 76125283 | GAAACAAA | G | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 HG03041.hp1 others(15): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 a0001c0004t0001g0314 a0001c0004t0001g0315 others(12): Show |
18 | 370 | 0.0487 | -7 | c.105 others(24): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
NUP54_chr4_76109664_76153397 | 76125669 | AGAGGGAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 HG03453.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0030 others(4): Show |
7 | 370 | 0.0189 | -7 | c.105 others(24): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
NUP58_chr13_25296625_25347421 | 25304513 | TATATGTA | T | intron_variant | MODIFIER | HG01934.hp1 HG01934.hp2 NA18979.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0006t0001g0247 |
3 | 350 | 0.0086 | -7 | c.107 others(24): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | chr13 | TogoVar | |||||||
NUP58_chr13_25296625_25347421 | 25304514 | ATATGTAT | A | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01346.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0150 a0001c0001t0001g0164 a0001c0001t0003g0144 others(9): Show |
12 | 350 | 0.0343 | -7 | c.107 others(24): Show |
NUP58 | ENSG00000139496.18 | transcript | ENST00000381736.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107189829 | GGAAGGAA | G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 280 | 0.0036 | -7 | c.-48 others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107194807 | CTCTCTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01099.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(16): Show |
19 | 280 | 0.0679 | -7 | c.-91 others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107204752 | AAATAAAT | A | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0086 others(5): Show |
8 | 280 | 0.0286 | -7 | c.-92 others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107204776 | AAATAAAT | A | intron_variant | MODIFIER | HG02080.hp2 HG03486.hp1 NA18939.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(8): Show |
11 | 280 | 0.0393 | -7 | c.-92 others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107204784 | TTTAAATA | T | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0086 others(5): Show |
8 | 280 | 0.0286 | -7 | c.-92 others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107204808 | TTTAAATA | T | intron_variant | MODIFIER | HG02080.hp2 HG03486.hp1 NA18939.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(8): Show |
11 | 280 | 0.0393 | -7 | c.-92 others(24): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NUP62_chr19_49901825_49934504 | 49934258 | AAAAGGGG | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp2 others(24): Show |
a0001a0003a0008 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0307 others(20): Show |
27 | 416 | 0.0649 | -7 | c.-51 others(18): Show |
NUP62 | ENSG00000213024.13 | transcript | ENST00000352066.8 | protein_coding | 4755 | chr19 | TogoVar | |||||||
NUP85_chr17_75200679_75240758 | 75212469 | GTTTTTTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0201 a0001c0001t0001g0202 others(4): Show |
9 | 276 | 0.0326 | -7 | c.361 others(22): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NUP85_chr17_75200679_75240758 | 75222495 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(153): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0002c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0010t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show |
156 | 276 | 0.5652 | -7 | c.598 others(24): Show |
NUP85 | ENSG00000125450.11 | transcript | ENST00000245544.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56794927 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0023others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0302 a0001c0001t0001g0303 others(37): Show |
41 | 378 | 0.1085 | -7 | c.298 others(24): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3684766 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01106.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0029others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0029t0001others(5): Show | a0001c0001t0001g0113 a0001c0001t0001g0221 a0001c0001t0001g0250 others(12): Show |
15 | 342 | 0.0439 | -7 | c.467 others(26): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 29/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3753755 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0042 others(55): Show |
58 | 342 | 0.1696 | -7 | c.117 others(24): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 10/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3769744 | CTAAAAAT | C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(1): Show |
4 | 342 | 0.0117 | -7 | c.785 others(24): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 7/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3781490 | TTTAAAAA | T | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01884.hp1 others(42): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 others(42): Show |
45 | 342 | 0.1316 | -7 | c.76+ others(20): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 2/32 | chr11 | TogoVar | |||||||
NUP98_chr11_3670019_3802554 | 3792178 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG01943.hp1 others(6): Show |
a0001a0003a0020 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0121 others(6): Show |
9 | 342 | 0.0263 | -7 | c.-29 others(24): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
NUPR2_chr7_56109681_56121417 | 56118394 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01123.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0022 others(12): Show |
50 | 448 | 0.1116 | -7 | c.-20 others(18): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1978 | chr7 | TogoVar | |||||||
NUTF2_chr16_67841933_67877567 | 67864509 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0075 a0001c0001t0003g0027 a0001c0001t0003g0028 others(13): Show |
19 | 248 | 0.0766 | -7 | c.-29 others(22): Show |
NUTF2 | ENSG00000102898.13 | transcript | ENST00000219169.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34347882 | ATAAAAAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02809.hp2 others(3): Show |
a0004 | a0004c0005a0004c0010 | a0004c0005t0001a0004c0010t0001 | a0004c0005t0001g0273 a0004c0010t0001g0022 a0004c0010t0001g0330 others(1): Show |
6 | 454 | 0.0132 | -7 | c.101 others(20): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | chr15 | TogoVar | |||||||
NUTM1_chr15_34338315_34362735 | 34351227 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0045 a0001c0001t0001g0128 a0001c0001t0001g0160 others(42): Show |
50 | 454 | 0.1101 | -7 | c.938 others(22): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
NUTM2A_chr10_87220448_87239978 | 87237694 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00642.hp2 others(22): Show |
a0001 | a0001c0005a0001c0014a0001c0032others(5): Show | a0001c0005t0004a0001c0014t0004a0001c0032t0004others(5): Show | a0001c0005t0004g0004 a0001c0005t0004g0060 a0001c0014t0004g0017 others(7): Show |
25 | 403 | 0.0620 | -7 | c.*29 others(18): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 2717 | chr10 | TogoVar | |||||||
NUTM2F_chr9_94313198_94333644 | 94320572 | CCATCCTT | C | frameshift_variant | HIGH | NA19089.hp1 | a0029 | a0029c0028 | a0029c0028t0001 | a0029c0028t0001g0072 | 1 | 322 | 0.0031 | -7 | c.997 others(15): Show |
p.Lys others(5): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 5/7 | 1024/2559 | 997/2271 | 333/756 | chr9 | TogoVar | |||
NWD1_chr19_16714847_16822953 | 16730674 | ACCACTGC | A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02145.hp2 others(2): Show |
a0002a0010a0028 | a0002c0037a0010c0011a0028c0045 | a0002c0037t0002a0010c0011t0002a0010c0011t0011others(1): Show | a0002c0037t0002g0020 a0010c0011t0002g0022 a0010c0011t0011g0024 others(2): Show |
5 | 300 | 0.0167 | -7 | c.-6- others(20): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16738768 | GATATATA | G | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG02293.hp1 others(7): Show |
a0002a0004a0006others(5): Show | a0002c0002a0004c0005a0006c0013others(6): Show | a0002c0002t0020a0004c0005t0039a0006c0013t0008others(6): Show | a0002c0002t0020g0249 a0004c0005t0039g0084 a0006c0013t0008g0253 others(7): Show |
10 | 300 | 0.0333 | -7 | c.198 others(24): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37302319 | CTATTGAG | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp2 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(47): Show |
50 | 296 | 0.1689 | -7 | c.152 others(26): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37317998 | ATTTCTTT | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0013a0001c0004t0001others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0288 others(3): Show |
6 | 296 | 0.0203 | -7 | c.152 others(24): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37322720 | ATGAGAGG | A | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp2 NA19030.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0002 | a0001c0002t0002g0182 a0001c0009t0002g0197 a0001c0009t0002g0242 |
3 | 296 | 0.0101 | -7 | c.152 others(24): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NWD2_chr4_37239743_37454463 | 37395584 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0003 | a0001c0001t0001g0107 a0001c0008t0003g0172 a0001c0008t0003g0173 others(3): Show |
6 | 296 | 0.0203 | -7 | c.358 others(26): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NXF2B_chrX_102355395_102445008 | 102355948 | AGAGAGAG | A | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 54 | 0.0185 | -7 | c.*46 others(18): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 4446 | chrX | TogoVar | |||||||
NXF2B_chrX_102355395_102445008 | 102377147 | TTTGTGTG | T | intron_variant | MODIFIER | HG02630.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 54 | 0.0370 | -7 | c.43+ others(22): Show |
NXF2B | ENSG00000269437.8 | transcript | ENST00000602195.6 | protein_coding | 3/22 | chrX | TogoVar | |||||||
NXF2_chrX_102242167_102331722 | 102246741 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 38 | 0.0263 | -7 | c.-67 others(16): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 425 | chrX | TogoVar | |||||||
NXF2_chrX_102242167_102331722 | 102274541 | CCTCTTCT | C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 38 | 0.0263 | -7 | c.-54 others(26): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar | |||||||
NXF2_chrX_102242167_102331722 | 102293528 | TATATATA | T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 38 | 0.0263 | -7 | c.-53 others(26): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar |