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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LGALS3BP_chr17_78966255_78984923 | 78983171 | G | GTTGAGGC others(162): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 169 | c.-33 others(180): Show |
LGALS3BP | ENSG00000108679.13 | transcript | ENST00000262776.8 | protein_coding | 3249 | chr17 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104833038 | T | TATATTAT others(162): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0073a0001c0001t0006g0018 | 2 | 86 | 0.0233 | 169 | c.683 others(188): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507131 | T | TGGGAGGG others(162): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 260 | 0.0039 | 169 | c.624 others(186): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507182 | A | AGGGGGGT others(162): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 260 | 0.0039 | 169 | c.624 others(186): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507254 | T | TGAGGGGG others(162): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0005 | 1 | 260 | 0.0039 | 169 | c.624 others(186): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507525 | G | GGGGGGGT others(162): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 260 | 0.0039 | 169 | c.624 others(186): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507821 | G | GGGGGGGT others(162): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 260 | 0.0039 | 169 | c.625 others(186): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
LIN28B_chr6_104952107_105088332 | 105023650 | T | TATATAAT others(162): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 278 | 0.0036 | 169 | c.199 others(186): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 186323 | G | GGAGGAAC others(162): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0339 | 1 | 350 | 0.0029 | 169 | c.*28 others(180): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2666 | chr16 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1990809 | C | CCAGAGCC others(162): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01975.hp2 HG02300.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0116a0001c0004t0003g0117a0001c0004t0003g0118 | 3 | 264 | 0.0114 | 169 | c.141 others(190): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1295701 | A | ACCTGTAC others(162): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0006 | 1 | 388 | 0.0026 | 169 | c.69+ others(184): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAGI3_chr1_113385515_113690923 | 113416420 | T | TATATATT others(162): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 236 | 0.0042 | 169 | c.316 others(188): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315527 | A | ATTTATAT others(162): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 |
a0029a0050 | a0029c0021a0050c0049 | a0029c0021t0002a0050c0049t0001 | a0029c0021t0002g0092a0050c0049t0001g0022 | 2 | 152 | 0.0132 | 169 | c.342 others(188): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | chr10 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478066 | A | AGCGGGGA others(162): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 | 1 | 163 | 0.0061 | 169 | c.525 others(186): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MFSD3_chr8_144504070_144516213 | 144505532 | T | TTGCGTTC others(162): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 169 | c.-38 others(180): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 3537 | chr8 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542931 | G | GGTGAGTG others(162): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0116 | 1 | 286 | 0.0035 | 169 | c.153 others(186): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543544 | G | GGGGGGAC others(162): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0018 | a0018c0021 | a0018c0021t0002 | a0018c0021t0002g0255 | 1 | 286 | 0.0035 | 169 | c.153 others(186): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144203024 | G | GGGGGGAG others(162): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 140 | 0.0071 | 169 | c.114 others(188): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144203052 | C | CGGGGGGG others(162): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0002 | 1 | 140 | 0.0071 | 169 | c.114 others(188): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75886347 | T | TAGCATGT others(162): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01256.hp2 HG01257.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0005a0002c0003t0001 | a0001c0002t0001g0276a0001c0002t0001g0282a0001c0002t0001g0287others(6): Show | 9 | 332 | 0.0271 | 169 | c.210 others(188): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | chr1 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 763775 | A | AGCATCCC others(162): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0349 | 1 | 388 | 0.0026 | 169 | c.179 others(182): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767591 | A | AGGAGGGG others(162): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 388 | 0.0026 | 169 | c.159 others(186): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767706 | G | GGGGGGGC others(162): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 388 | 0.0026 | 169 | c.159 others(186): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(162): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0101 | 1 | 388 | 0.0026 | 169 | c.159 others(186): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(162): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 388 | 0.0026 | 169 | c.159 others(186): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MUSTN1_chr3_52828121_52840019 | 52832637 | G | GAGGGAGA others(162): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 388 | 0.0026 | 169 | c.*68 others(178): Show |
MUSTN1 | ENSG00000272573.6 | transcript | ENST00000446157.3 | protein_coding | 483 | chr3 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169769250 | G | GCCCCACC others(162): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0040 | 1 | 350 | 0.0029 | 169 | c.-42 others(180): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 4145 | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40192330 | T | TATATATA others(162): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0161 | 1 | 170 | 0.0059 | 169 | c.166 others(188): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(162): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01346.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0025a0001c0002t0002 | a0001c0001t0016g0039a0001c0001t0016g0067a0001c0001t0025g0104others(2): Show | 5 | 223 | 0.0224 | 169 | c.289 others(186): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(162): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01884.hp2 others(17): Show |
a0001 | a0001c0002a0001c0013a0001c0018 | a0001c0002t0002a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0002t0002g0010a0001c0002t0002g0012a0001c0002t0002g0044others(17): Show | 20 | 223 | 0.0897 | 169 | c.289 others(186): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(162): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0135 | 1 | 223 | 0.0045 | 169 | c.289 others(186): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(162): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0008a0001c0001t0008g0016a0001c0001t0008g0057others(3): Show | 6 | 223 | 0.0269 | 169 | c.289 others(186): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NAB1_chr2_190644083_190697766 | 190690012 | C | CTATACAT others(162): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0140a0001c0001t0006g0144 | 2 | 374 | 0.0054 | 169 | c.137 others(186): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NARF_chr17_82453741_82495537 | 82460899 | T | TGGATTTC others(162): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0158 | 1 | 356 | 0.0028 | 169 | c.108 others(184): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NCKAP1_chr2_182904115_183043457 | 182984423 | G | GGTGTGTG others(162): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0011 | 1 | 218 | 0.0046 | 169 | c.100 others(188): Show |
NCKAP1 | ENSG00000061676.16 | transcript | ENST00000361354.9 | protein_coding | 10/30 | chr2 | TogoVar | ||||||
NCS1_chr9_130167404_130242303 | 130221958 | A | AATATAAA others(162): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01099.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007a0001c0002t0008others(11): Show | a0001c0002t0001g0008a0001c0002t0001g0013a0001c0002t0001g0018others(22): Show | 25 | 348 | 0.0718 | 169 | c.308 others(184): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NCS1_chr9_130167404_130242303 | 130221958 | A | AATATAAA others(162): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01358.hp2 NA18966.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0024 | a0001c0002t0004g0124a0001c0002t0011g0217a0001c0002t0024g0220 | 3 | 348 | 0.0086 | 169 | c.308 others(184): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NCS1_chr9_130167404_130242303 | 130221958 | A | AATATAAA others(162): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0079a0001c0002t0002g0143 | 2 | 348 | 0.0058 | 169 | c.308 others(184): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NCS1_chr9_130167404_130242303 | 130221991 | A | AATATAAA others(162): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0163 | a0001c0002t0163g0323 | 1 | 348 | 0.0029 | 169 | c.308 others(184): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58209312 | C | CTCCACCT others(162): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00738.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0015others(59): Show | 62 | 118 | 0.5254 | 169 | c.123 others(188): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(162): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02735.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0310a0001c0002t0003g0312 | 2 | 362 | 0.0055 | 169 | c.-75 others(188): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397695 | T | TGGGGGTG others(162): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0295 | 3 | 356 | 0.0084 | 169 | c.91+ others(182): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NME8_chr7_37843597_37905397 | 37848118 | A | AAGAAGAG others(162): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0336a0003c0003t0002g0337 | 2 | 388 | 0.0052 | 169 | c.-85 others(178): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 478 | chr7 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808331 | T | TATATAGT others(162): Show |
intron_variant | MODIFIER | HG01123.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0323a0001c0001t0023g0330 | 2 | 378 | 0.0053 | 169 | c.489 others(186): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808331 | T | TATATAGT others(162): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18969.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0307a0001c0001t0017g0341a0001c0001t0017g0342 | 3 | 378 | 0.0079 | 169 | c.489 others(186): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808356 | T | TATATAGT others(162): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG03490.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0053a0001c0001t0001g0054others(4): Show | 7 | 378 | 0.0185 | 169 | c.489 others(186): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808381 | T | TATATAGT others(162): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 378 | 0.0027 | 169 | c.489 others(186): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808381 | T | TATATAGT others(162): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18971.hp1 NA18984.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303a0001c0001t0001g0311a0001c0001t0001g0312others(3): Show | 6 | 378 | 0.0159 | 169 | c.489 others(186): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808450 | A | ATAAAATA others(162): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 |
a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0065a0001c0007t0012g0347 | 2 | 378 | 0.0053 | 169 | c.489 others(186): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16737964 | C | CAAAAGAA others(162): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0044 | a0006c0044t0001 | a0006c0044t0001g0255 | 1 | 300 | 0.0033 | 169 | c.198 others(186): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | chr19 | TogoVar |