regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUMB_chr14_73270216_73463546 | 73309718 | TATAATAA others(5): Show |
T | intron_variant | MODIFIER | HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302a0001c0001t0001g0303a0001c0001t0001g0304others(2): Show | 5 | 322 | 0.0155 | -12 | c.234 others(29): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 6/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73309747 | TAATAATA others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0021 | 1 | 322 | 0.0031 | -12 | c.234 others(29): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 6/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73350074 | TACATACA others(5): Show |
T | intron_variant | MODIFIER | HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302a0001c0001t0001g0303a0001c0001t0001g0304others(2): Show | 5 | 322 | 0.0155 | -12 | c.126 others(29): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73352473 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0251a0001c0002t0009g0252 | 2 | 322 | 0.0062 | -12 | c.126 others(29): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73395030 | CGTGTGTT others(5): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02809.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0005a0001c0004t0001 | a0001c0001t0001g0130a0001c0003t0005g0020a0001c0003t0005g0022others(2): Show | 5 | 322 | 0.0155 | -12 | c.-10 others(33): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73395037 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02818.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0017a0001c0001t0001g0107a0001c0001t0001g0275others(3): Show | 6 | 322 | 0.0186 | -12 | c.-10 others(33): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73398409 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 322 | 0.0031 | -12 | c.-10 others(33): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73398413 | AGAGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01256.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(6): Show | 9 | 322 | 0.0280 | -12 | c.-10 others(33): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 2/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73440827 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292a0001c0001t0002g0293a0001c0001t0002g0294others(2): Show | 5 | 322 | 0.0155 | -12 | c.-23 others(33): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73445354 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 322 | 0.0031 | -12 | c.-23 others(33): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
NUMB_chr14_73270216_73463546 | 73451163 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 322 | 0.0031 | -12 | c.-23 others(31): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
NUP107_chr12_68681978_68750809 | 68712418 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0112 | 1 | 398 | 0.0025 | -12 | c.891 others(29): Show |
NUP107 | ENSG00000111581.10 | transcript | ENST00000229179.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NUP107_chr12_68681978_68750809 | 68718846 | TTATGTAT others(5): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107a0001c0002t0002g0108 | 2 | 398 | 0.0050 | -12 | c.108 others(29): Show |
NUP107 | ENSG00000111581.10 | transcript | ENST00000229179.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NUP133_chr1_229435259_229513341 | 229435458 | GTCCCTCT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp1 HG02040.hp2 HG02055.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0148a0003c0003t0004g0108a0003c0003t0004g0112others(2): Show | 5 | 276 | 0.0181 | -12 | c.*64 others(23): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 4800 | chr1 | TogoVar | ||||||
NUP133_chr1_229435259_229513341 | 229435461 | CCTCTCTC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01515.hp2 HG01884.hp1 HG02145.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0001c0009a0001c0012others(2): Show | a0001c0001t0001a0001c0009t0001a0001c0012t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0197a0001c0009t0001g0009others(6): Show | 9 | 276 | 0.0326 | -12 | c.*64 others(23): Show |
NUP133 | ENSG00000069248.12 | transcript | ENST00000261396.6 | protein_coding | 4797 | chr1 | TogoVar | ||||||
NUP153_chr6_17610037_17711925 | 17706424 | AAGGGGGC others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0038 | 1 | 316 | 0.0032 | -12 | c.-49 others(19): Show |
NUP153 | ENSG00000124789.12 | transcript | ENST00000262077.3 | protein_coding | 1/22 | 38 | chr6 | TogoVar | |||||
NUP155_chr5_37283137_37376106 | 37290885 | GTGATGCT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0216 | 1 | 300 | 0.0033 | -12 | c.*10 others(23): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 35/35 | 1003 | chr5 | TogoVar | |||||
NUP155_chr5_37283137_37376106 | 37335653 | TTTAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02723.hp2 HG03710.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173a0001c0003t0001g0205a0001c0003t0001g0228 | 3 | 300 | 0.0100 | -12 | c.134 others(31): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 12/34 | chr5 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47782303 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0181others(6): Show | 9 | 338 | 0.0266 | -12 | c.401 others(29): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 34/35 | chr11 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47793722 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 338 | 0.0030 | -12 | c.318 others(29): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 27/35 | chr11 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47806788 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01433.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0196a0001c0001t0002g0283a0001c0001t0003g0324 | 3 | 338 | 0.0089 | -12 | c.234 others(29): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 19/35 | chr11 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47806790 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(29): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0137a0001c0001t0001g0151a0001c0001t0001g0154others(28): Show | 32 | 338 | 0.0947 | -12 | c.234 others(29): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 19/35 | chr11 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47824008 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG02922.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0045a0002c0002t0001g0074others(2): Show | 5 | 338 | 0.0148 | -12 | c.100 others(31): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 7/35 | chr11 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47824042 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222a0001c0001t0001g0314 | 2 | 338 | 0.0059 | -12 | c.100 others(31): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 7/35 | chr11 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47850823 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0238a0001c0015t0001g0274 | 2 | 338 | 0.0059 | -12 | c.-25 others(23): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2474 | chr11 | TogoVar | ||||||
NUP188_chr9_128942699_129012096 | 128966128 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02027.hp1 NA18941.hp2 NA18951.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0275a0001c0003t0002g0277a0001c0003t0002g0278others(5): Show | 8 | 296 | 0.0270 | -12 | c.586 others(29): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 8/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP188_chr9_128942699_129012096 | 128972462 | ACACAGAG others(5): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02027.hp1 HG02451.hp1 others(25): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0009others(3): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0009others(4): Show | a0001c0002t0001g0265a0001c0002t0001g0266a0001c0002t0001g0269others(25): Show | 28 | 296 | 0.0946 | -12 | c.111 others(29): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP188_chr9_128942699_129012096 | 128987084 | AGAGAGTG others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0265a0001c0002t0001g0266a0001c0002t0001g0271others(2): Show | 5 | 296 | 0.0169 | -12 | c.226 others(29): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP188_chr9_128942699_129012096 | 128987088 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG04115.hp1 NA18941.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0009 | a0001c0003t0002g0273a0001c0003t0002g0274a0001c0003t0002g0275others(10): Show | 13 | 296 | 0.0439 | -12 | c.226 others(29): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP188_chr9_128942699_129012096 | 128988719 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0008 | a0001c0004t0001g0255a0001c0004t0008g0256 | 2 | 296 | 0.0068 | -12 | c.253 others(29): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 24/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135561905 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0102 | 1 | 352 | 0.0028 | -12 | c.28+ others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135567120 | CTATGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(49): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0281a0001c0001t0001g0289others(47): Show | 52 | 352 | 0.1477 | -12 | c.29- others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135567124 | GTGTGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01346.hp1 NA18968.hp1 NA19012.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0060others(2): Show | 5 | 352 | 0.0142 | -12 | c.29- others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135570046 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0126 | 1 | 352 | 0.0028 | -12 | c.29- others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135570048 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01496.hp2 HG03654.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0163others(2): Show | 5 | 352 | 0.0142 | -12 | c.29- others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135570050 | TATAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0164a0001c0001t0001g0165 | 3 | 352 | 0.0085 | -12 | c.29- others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135570052 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0252 | 1 | 352 | 0.0028 | -12 | c.29- others(27): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP205_chr7_135552917_135653753 | 135642843 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01978.hp1 others(9): Show |
a0002 | a0002c0006a0002c0019 | a0002c0006t0001a0002c0019t0001 | a0002c0006t0001g0008a0002c0006t0001g0011a0002c0006t0001g0012others(9): Show | 12 | 352 | 0.0341 | -12 | c.539 others(29): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 38/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NUP210L_chr1_153987690_154160073 | 154010870 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01975.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044 | 3 | 290 | 0.0103 | -12 | c.478 others(29): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 34/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154015906 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01257.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0209others(7): Show | 10 | 290 | 0.0345 | -12 | c.465 others(31): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 33/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154036313 | CATGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 NA18942.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0103a0001c0001t0001g0186others(1): Show | 4 | 290 | 0.0138 | -12 | c.369 others(31): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 27/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154036314 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG02004.hp1 HG02257.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0191others(12): Show | 15 | 290 | 0.0517 | -12 | c.369 others(31): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 27/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154036350 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 290 | 0.0035 | -12 | c.369 others(31): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 27/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154055123 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0021others(13): Show | 16 | 290 | 0.0552 | -12 | c.324 others(29): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 23/39 | chr1 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125622 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG03669.hp2 NA18973.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0191a0002c0002t0001g0156 | 2 | 290 | 0.0069 | -12 | c.132 others(29): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
NUP210_chr3_13311235_13425322 | 13370184 | GCCCTACA others(5): Show |
G | intron_variant | MODIFIER | HG02071.hp2 NA18962.hp2 NA18969.hp1 |
a0004 | a0004c0004a0004c0036 | a0004c0004t0003a0004c0036t0003 | a0004c0004t0003g0165a0004c0004t0003g0175a0004c0036t0003g0176 | 3 | 326 | 0.0092 | -12 | c.178 others(31): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 13/39 | chr3 | TogoVar | ||||||
NUP210_chr3_13311235_13425322 | 13385788 | GGATGAAT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(174): Show |
a0002a0003a0005others(12): Show | a0002c0002a0002c0013a0002c0029others(20): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0007others(25): Show | a0002c0002t0001g0050a0002c0002t0001g0160a0002c0002t0001g0161others(173): Show | 177 | 326 | 0.5429 | -12 | c.817 others(27): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 6/39 | chr3 | TogoVar | ||||||
NUP210_chr3_13311235_13425322 | 13418948 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00639.hp2 others(41): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0019a0004c0004others(6): Show | a0002c0002t0001a0003c0019t0013a0004c0004t0003others(7): Show | a0002c0002t0001g0160a0002c0002t0001g0161a0002c0002t0001g0162others(40): Show | 44 | 326 | 0.1350 | -12 | c.167 others(29): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 1/39 | chr3 | TogoVar | ||||||
NUP210_chr3_13311235_13425322 | 13419161 | AACAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03130.hp1 |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0060a0003c0005t0005g0061 | 2 | 326 | 0.0061 | -12 | c.167 others(27): Show |
NUP210 | ENSG00000132182.13 | transcript | ENST00000254508.7 | protein_coding | 1/39 | chr3 | TogoVar | ||||||
NUP214_chr9_131120586_131239663 | 131132115 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 234 | 0.0043 | -12 | c.664 others(27): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |