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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(773): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(773): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(773): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(64): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0010others(53): Show | 67 | 275 | 0.2436 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(773): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184a0002c0002t0001g0185 | 2 | 275 | 0.0073 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(773): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(773): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(773): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(773): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 275 | 0.0036 | 780 | c.278 others(799): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG02897.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0033a0001c0002t0001g0065a0001c0003t0001g0022others(1): Show | 4 | 114 | 0.0351 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(18): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0001a0001c0002t0013a0001c0002t0023others(4): Show | a0001c0002t0001g0083a0001c0002t0001g0084a0001c0002t0001g0085others(18): Show | 21 | 114 | 0.1842 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG03225.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0010 | a0001c0002t0009g0111a0001c0003t0010g0088 | 2 | 114 | 0.0175 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0077 | 1 | 114 | 0.0088 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 114 | 0.0088 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0011 | 1 | 114 | 0.0088 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(773): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01109.hp2 others(51): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(20): Show | a0001c0002t0001g0001a0001c0002t0001g0005a0001c0002t0001g0028others(51): Show | 54 | 114 | 0.4737 | 780 | c.*80 others(791): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 605436 | C | CGGGGACC others(773): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0365 | 1 | 408 | 0.0025 | 780 | c.121 others(797): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(773): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0049 | 1 | 134 | 0.0075 | 780 | c.520 others(801): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(773): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0065 | a0002c0002t0065g0089 | 1 | 134 | 0.0075 | 780 | c.520 others(801): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44404776 | T | TGTGTTTG others(773): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0120 | 2 | 322 | 0.0062 | 780 | c.50- others(795): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
HOMEZ_chr14_23267422_23291132 | 23280705 | T | TATATTTT others(773): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0131 | 1 | 394 | 0.0025 | 780 | c.41- others(795): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925812 | A | ATGGATGG others(773): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0220 | 1 | 376 | 0.0027 | 780 | c.666 others(797): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(773): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 NA19070.hp2 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0009a0002c0002t0002g0168a0002c0002t0006g0009 | 3 | 323 | 0.0093 | 780 | c.-36 others(791): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IL18R1_chr2_102350796_102403776 | 102352817 | A | AATATATA others(773): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 366 | 0.0027 | 780 | c.-36 others(791): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2978 | chr2 | TogoVar | ||||||
INO80_chr15_40973880_41121280 | 41031591 | G | GAGGAAGG others(773): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0279 | 1 | 282 | 0.0036 | 780 | c.290 others(799): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
INO80_chr15_40973880_41121280 | 41031591 | G | GAGGAAGG others(773): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0277a0001c0001t0007g0280 | 2 | 282 | 0.0071 | 780 | c.290 others(799): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775141 | A | AGAGGGGC others(773): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0068 | 1 | 204 | 0.0049 | 780 | c.978 others(797): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(773): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02004.hp2 HG02602.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0143a0001c0001t0001g0149a0001c0001t0002g0139others(2): Show | 5 | 204 | 0.0245 | 780 | c.978 others(797): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(773): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 204 | 0.0049 | 780 | c.978 others(797): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236345131 | G | GCCCTGGC others(773): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0204 | 1 | 208 | 0.0048 | 780 | c.187 others(797): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809205 | T | TCTGAGGA others(773): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0249 | 1 | 312 | 0.0032 | 780 | c.-11 others(801): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(773): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18989.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219a0002c0002t0002g0242 | 2 | 284 | 0.0070 | 780 | c.126 others(797): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(773): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0239 | 1 | 284 | 0.0035 | 780 | c.126 others(797): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 922519 | A | AGTTGCCT others(773): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 294 | 0.0034 | 780 | c.515 others(799): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(773): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 780 | c.-29 others(791): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | ||||||
LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(773): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 414 | 0.0024 | 780 | c.-43 others(791): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364519 | G | GCGCTTAC others(773): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0234 | 1 | 290 | 0.0035 | 780 | c.129 others(797): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(773): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 780 | c.*26 others(791): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(773): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0083 | 1 | 278 | 0.0036 | 780 | c.115 others(797): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(773): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0040 | 1 | 278 | 0.0036 | 780 | c.115 others(797): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(773): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0010 | a0010c0044 | a0010c0044t0001 | a0010c0044t0001g0230 | 1 | 278 | 0.0036 | 780 | c.115 others(797): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGAGGG others(773): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0174 | 1 | 272 | 0.0037 | 780 | c.250 others(795): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(773): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02155.hp1 HG02257.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0142a0001c0001t0003g0102a0001c0001t0003g0126others(19): Show | 22 | 256 | 0.0859 | 780 | c.241 others(799): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(773): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 330 | 0.0030 | 780 | c.-5+ others(795): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(773): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0252 | 1 | 330 | 0.0030 | 780 | c.-5+ others(795): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(773): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 330 | 0.0030 | 780 | c.-5+ others(795): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195776188 | A | AGTCATAC others(773): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0006 | a0006c0019 | a0006c0019t0002 | a0006c0019t0002g0021 | 1 | 249 | 0.0040 | 780 | c.129 others(801): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(773): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 350 | 0.0029 | 780 | c.-28 others(791): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(773): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0076 | 1 | 170 | 0.0059 | 780 | c.166 others(799): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NKAIN2_chr6_123798865_124830640 | 124138667 | T | TTAATATT others(773): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0047 | 1 | 66 | 0.0152 | 780 | c.55- others(799): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NXN_chr17_794310_984776 | 841393 | C | CGGCGAGC others(773): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 242 | 0.0041 | 780 | c.361 others(799): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar |