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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(273): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0056 a0001c0001t0002g0020 a0001c0001t0003g0002 others(2): Show |
5 | 80 | 0.0625 | 280 | c.62- others(299): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209560 | A | ATATATAT others(273): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0237 | 1 | 260 | 0.0039 | 280 | c.963 others(299): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209562 | A | ATATATAA others(273): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0066 | 1 | 260 | 0.0039 | 280 | c.963 others(299): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209562 | A | ATATATAA others(273): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0097 | 1 | 260 | 0.0039 | 280 | c.963 others(299): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(273): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 232 | 0.0043 | 280 | c.-67 others(299): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(273): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 a0001c0001t0002g0178 |
2 | 232 | 0.0086 | 280 | c.-67 others(299): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758165 | G | GATATATA others(273): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 232 | 0.0043 | 280 | c.-67 others(299): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758241 | G | GATATATA others(273): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 232 | 0.0043 | 280 | c.-67 others(299): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNT2_chr1_196220779_196613440 | 196437084 | A | AATATATA others(273): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0002 | 1 | 136 | 0.0074 | 280 | c.639 others(297): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229292 | C | CCACTCAC others(273): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0187 | a0001c0001t0187g0393 | 1 | 398 | 0.0025 | 280 | c.64+ others(297): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 168035438 | C | CGGGGGGG others(273): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 375 | 0.0027 | 280 | c.317 others(297): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(273): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 338 | 0.0030 | 280 | c.130 others(297): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(273): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 338 | 0.0030 | 280 | c.130 others(297): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL18_chr3_47277944_47351816 | 47316707 | G | GTATGTGT others(273): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02300.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0011a0001c0010t0001 | a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0317 others(2): Show |
5 | 338 | 0.0148 | 280 | c.130 others(297): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL1_chr13_69695597_70113452 | 69935206 | G | GTACTGGT others(273): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0064 a0001c0001t0002g0087 a0001c0001t0003g0165 |
3 | 182 | 0.0165 | 280 | c.101 others(299): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
KPNA1_chr3_122416902_122519939 | 122439505 | C | CAAAAGAG others(273): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0017 | 1 | 400 | 0.0025 | 280 | c.997 others(297): Show |
KPNA1 | ENSG00000114030.13 | transcript | ENST00000344337.11 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCG others(273): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 414 | 0.0024 | 280 | c.171 others(297): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(273): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 334 | 0.0210 | 280 | c.-31 others(291): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(273): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 334 | 0.0030 | 280 | c.-31 others(291): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188313322 | T | TTTTCATT others(273): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0008 | a0002c0008t0060 | a0002c0008t0060g0015 | 1 | 76 | 0.0132 | 280 | c.-66 others(299): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCOL1_chr12_132598151_132615582 | 132598384 | G | GCTCCTCT others(273): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0024 | 1 | 390 | 0.0026 | 280 | c.*50 others(291): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4766 | chr12 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(273): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0230 | 1 | 290 | 0.0035 | 280 | c.129 others(297): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC74A_chr14_76821408_76875304 | 76867164 | G | GGTGTGTG others(273): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01256.hp1 others(16): Show |
a0001a0003a0015 | a0001c0004a0001c0005a0003c0013others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(4): Show | a0001c0004t0001g0057 a0001c0004t0001g0155 a0001c0004t0001g0160 others(16): Show |
19 | 408 | 0.0466 | 280 | c.130 others(297): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRC74A_chr14_76821408_76875304 | 76867174 | A | AGTGTGTG others(273): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0004a0001c0001t0006a0001c0011t0004 | a0001c0001t0004g0038 a0001c0001t0006g0066 a0001c0001t0006g0067 others(2): Show |
5 | 408 | 0.0123 | 280 | c.130 others(297): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRIQ3_chr1_74021015_74203176 | 74059339 | C | CCCATCTT others(273): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0158 | 1 | 274 | 0.0037 | 280 | c.997 others(299): Show |
LRRIQ3 | ENSG00000162620.16 | transcript | ENST00000354431.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186042 | G | GACACGGG others(273): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 350 | 0.0029 | 280 | c.*31 others(291): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2947 | chr16 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248742675 | G | GAGATTAT others(273): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 374 | 0.0027 | 280 | c.475 others(297): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
LYRM4_chr6_5103419_5265950 | 5134970 | A | ATCGCTCC others(273): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0195 | 1 | 286 | 0.0035 | 280 | c.208 others(299): Show |
LYRM4 | ENSG00000214113.11 | transcript | ENST00000330636.9 | protein_coding | 2/2 | chr6 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1333885 | A | ATCCCATG others(273): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 388 | 0.0026 | 280 | c.765 others(297): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
MAN1A2_chr1_117362449_117533872 | 117429525 | C | CAGAGGGG others(273): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0037 | 1 | 370 | 0.0027 | 280 | c.855 others(297): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
MAP3K14_chr17_45258119_45322020 | 45306333 | T | TAAAAATT others(273): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0009 | a0001c0001t0002g0256 a0001c0013t0009g0255 |
2 | 336 | 0.0060 | 280 | c.-21 others(299): Show |
MAP3K14 | ENSG00000006062.18 | transcript | ENST00000344686.8 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378002 | T | TATTATAT others(273): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0090 | 1 | 416 | 0.0024 | 280 | c.-12 others(291): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1038 | chr4 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378002 | T | TATTATAT others(273): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0006 | a0006c0007 | a0006c0007t0014 | a0006c0007t0014g0091 | 1 | 416 | 0.0024 | 280 | c.-12 others(291): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1038 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164112985 | T | TAAACAAT others(273): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0025a0001c0002t0003 | a0001c0001t0020g0070 a0001c0001t0025g0101 a0001c0002t0003g0016 |
3 | 102 | 0.0294 | 280 | c.-32 others(299): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164112988 | A | ACAATTGC others(273): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0048 | 1 | 102 | 0.0098 | 280 | c.-32 others(299): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113089250 | C | CGGGTTTA others(273): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 116 | 0.0086 | 280 | c.283 others(297): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84987580 | A | AGATATAT others(273): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0245 | 1 | 350 | 0.0029 | 280 | c.77+ others(295): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
METTL22_chr16_8616698_8654654 | 8640836 | G | GGATGGAT others(273): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(243): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(178): Show |
246 | 390 | 0.6308 | 280 | c.773 others(295): Show |
METTL22 | ENSG00000067365.15 | transcript | ENST00000381920.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233787925 | T | TATATATT others(273): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0006 | a0006c0053 | a0006c0053t0001 | a0006c0053t0001g0003 | 2 | 378 | 0.0053 | 280 | c.277 others(297): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60206491 | A | ATATATAT others(273): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0171 | 1 | 410 | 0.0024 | 280 | c.484 others(295): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767614 | T | TGGAGGGG others(273): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0102 | 1 | 388 | 0.0026 | 280 | c.159 others(297): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588843 | A | ATATATAT others(273): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0316 | 1 | 364 | 0.0028 | 280 | c.394 others(295): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(273): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0190 | 1 | 284 | 0.0035 | 280 | c.710 others(297): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1350641 | G | GGGGCAGG others(273): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | 280 | c.*29 others(291): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2049 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(273): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 223 | 0.0045 | 280 | c.289 others(297): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCG others(273): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 384 | 0.0026 | 280 | c.-41 others(291): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
NCS1_chr9_130167404_130242303 | 130176187 | T | TTTCTTTC others(273): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0102 | a0001c0001t0102g0121 | 1 | 348 | 0.0029 | 280 | c.64+ others(295): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(273): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01515.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0018a0002c0002t0028others(1): Show | a0002c0002t0009g0006 a0002c0002t0009g0054 a0002c0002t0009g0055 others(5): Show |
9 | 348 | 0.0259 | 280 | c.48+ others(295): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
NEGR1_chr1_71390943_72287539 | 71928131 | C | CATATGTG others(273): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0046 | 1 | 64 | 0.0156 | 280 | c.409 others(297): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806050 | C | CCTCAACC others(273): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 319 | 0.0031 | 280 | c.-32 others(291): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3142 | chr2 | TogoVar |