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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH3_chr5_80649652_80881815 | 80693279 | A | ATGTTTAT others(87): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01975.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0026 | a0001c0001t0008a0001c0026t0001 | a0001c0001t0008g0314 a0001c0001t0008g0319 a0001c0001t0008g0320 others(2): Show |
5 | 362 | 0.0138 | 94 | c.134 others(115): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767672 | G | GGGTGTGG others(87): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0119 a0001c0001t0010g0140 |
2 | 388 | 0.0052 | 94 | c.159 others(111): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767934 | A | AGGGGGGA others(87): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 388 | 0.0026 | 94 | c.159 others(111): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767949 | G | GGGGGAGC others(87): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0211 | 1 | 388 | 0.0026 | 94 | c.159 others(111): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | chr16 | TogoVar | |||||||
MSX1_chr4_4854665_4868936 | 4861517 | A | ATTTTTTA others(87): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0045 | 1 | 440 | 0.0023 | 94 | c.469 others(111): Show |
MSX1 | ENSG00000163132.8 | transcript | ENST00000382723.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTERF3_chr8_96234402_96266610 | 96250696 | G | GAGGAGGA others(87): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0223 | 1 | 294 | 0.0034 | 94 | c.677 others(109): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | |||||||
MTHFD1L_chr6_150860702_151106887 | 150994077 | A | AAAGAAAG others(87): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 226 | 0.0044 | 94 | c.212 others(115): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195785927 | C | CCTGTGGA others(87): Show |
frameshift_variant | HIGH | HG03041.hp2 NA19043.hp1 |
a0025 | a0025c0021 | a0025c0021t0004 | a0025c0021t0004g0245 a0025c0021t0004g0246 |
2 | 249 | 0.0080 | 94 | c.565 others(103): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5764/16756 | 5652/16239 | 1884/5412 | chr3 | TogoVar | |||
MX1_chr21_41421239_41464212 | 41459472 | C | CATGGAGT others(87): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 408 | 0.0025 | 94 | c.*71 others(103): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 261 | chr21 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76702859 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG02809.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0332 |
3 | 416 | 0.0072 | 94 | c.342 others(111): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76702859 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02015.hp2 NA18990.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0002a0002c0002t0002 | a0001c0001t0002g0022 a0001c0003t0002g0292 a0001c0003t0002g0293 others(1): Show |
5 | 416 | 0.0120 | 94 | c.342 others(111): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76702859 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03834.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0328 a0002c0002t0002g0330 |
2 | 416 | 0.0048 | 94 | c.342 others(111): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYBPC1_chr12_101589971_101691028 | 101591773 | T | TTCTTCTT others(87): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0342 | 1 | 360 | 0.0028 | 94 | c.-32 others(105): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3197 | chr12 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4672082 | T | TGTGAATA others(87): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0189 others(3): Show |
6 | 410 | 0.0146 | 94 | c.-17 others(105): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1741 | chr19 | TogoVar | |||||||
MYO3B_chr2_170173147_170660167 | 170649142 | A | AATATATT others(87): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0095 | 1 | 174 | 0.0058 | 94 | c.373 others(113): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174130 | C | CCTGTAGC others(87): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0002a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0002g0142 a0001c0002t0002g0056 a0001c0002t0005g0143 others(2): Show |
5 | 223 | 0.0224 | 94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174345 | G | GTAGTTGT others(87): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(9): Show | a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0095 others(37): Show |
40 | 223 | 0.1794 | 94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174345 | G | GTAGTTGT others(87): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0008 | a0002c0008t0017 | a0002c0008t0017g0131 | 1 | 223 | 0.0045 | 94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174477 | C | CCTGCAGC others(87): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 1 | 223 | 0.0045 | 94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174630 | C | CCTGTAGC others(87): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 223 | 0.0045 | 94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64174630 | C | CCTGTAGC others(87): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0005 | a0001c0001t0002g0142 a0001c0002t0005g0099 a0001c0002t0005g0143 others(1): Show |
4 | 223 | 0.0179 | 94 | c.-99 others(111): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175177 | C | CCTGTAGC others(87): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175198 | G | GTTGTGTC others(87): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175298 | G | GTAGTTGT others(87): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0222 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175474 | T | TCTGCAGC others(87): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175477 | C | CCTCCTGC others(87): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64175530 | C | CCTGCAGC others(87): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0135 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64176074 | C | CCTGCAGC others(87): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0132 | 1 | 223 | 0.0045 | 94 | c.-99 others(113): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21411112 | G | GTGTATAT others(87): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0020 a0002c0002t0003g0046 |
2 | 132 | 0.0152 | 94 | c.138 others(111): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21411112 | G | GTGTATAT others(87): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0049 | 1 | 132 | 0.0076 | 94 | c.138 others(111): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAPD2_chr12_6489102_6536955 | 6504180 | T | TACATATA others(87): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0255 | 1 | 432 | 0.0023 | 94 | c.128 others(111): Show |
NCAPD2 | ENSG00000010292.13 | transcript | ENST00000315579.10 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCAPD2_chr12_6489102_6536955 | 6504184 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG02602.hp1 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0015 a0004c0005t0001g0246 a0004c0005t0001g0247 others(3): Show |
7 | 432 | 0.0162 | 94 | c.128 others(111): Show |
NCAPD2 | ENSG00000010292.13 | transcript | ENST00000315579.10 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NCAPH2_chr22_50503224_50529780 | 50504145 | A | ACCCCCGG others(87): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0001a0001c0006t0002 | a0001c0001t0002g0062 a0001c0002t0001g0006 a0001c0002t0001g0026 others(5): Show |
13 | 384 | 0.0339 | 94 | c.-41 others(105): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4078 | chr22 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CGTATATA others(87): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 334 | 0.0030 | 94 | c.-17 others(113): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CGTATATA others(87): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0181 | 1 | 334 | 0.0030 | 94 | c.-17 others(113): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CGTATATA others(87): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 334 | 0.0030 | 94 | c.-17 others(113): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
NCOA1_chr2_24486254_24775702 | 24516977 | C | CGTGTATA others(87): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0213 a0001c0002t0010g0214 a0001c0002t0010g0215 |
3 | 314 | 0.0096 | 94 | c.-39 others(115): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
NCOA1_chr2_24486254_24775702 | 24516977 | C | CGTGTATA others(87): Show |
intron_variant | MODIFIER | HG02451.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0084 a0001c0002t0009g0085 |
2 | 314 | 0.0064 | 94 | c.-39 others(115): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095665 | G | GGGGGGGT others(87): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 282 | 0.0036 | 94 | c.282 others(113): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16127707 | G | GTGTATGT others(87): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 282 | 0.0036 | 94 | c.151 others(113): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 14/45 | chr17 | TogoVar | |||||||
NCR1_chr19_54901148_54918073 | 54903568 | G | GTATATAT others(87): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0007 | 1 | 457 | 0.0022 | 94 | c.-26 others(105): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 2579 | chr19 | TogoVar | |||||||
NCR1_chr19_54901148_54918073 | 54903568 | G | GTATATAT others(87): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0007 | 1 | 457 | 0.0022 | 94 | c.-26 others(105): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 2579 | chr19 | TogoVar | |||||||
NDEL1_chr17_8430884_8473163 | 8432347 | A | AATATATA others(87): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 382 | 0.0026 | 94 | c.-37 others(105): Show |
NDEL1 | ENSG00000166579.16 | transcript | ENST00000334527.12 | protein_coding | 3536 | chr17 | TogoVar | |||||||
NDUFV3_chr21_42888309_42918299 | 42894346 | T | TATTATAT others(87): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0079 | a0002c0002t0079g0236 | 1 | 348 | 0.0029 | 94 | c.48+ others(107): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241806154 | A | ACCCTCCC others(87): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 319 | 0.0031 | 94 | c.-31 others(105): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3038 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806758 | A | ACCCTCCC others(87): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007 | 1 | 319 | 0.0031 | 94 | c.-25 others(105): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2434 | chr2 | TogoVar | |||||||
NF1_chr17_31089977_31382675 | 31335296 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0245 | 1 | 252 | 0.0040 | 94 | c.600 others(111): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | chr17 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148248 | G | GGGGGGGT others(87): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 NA18991.hp1 NA19009.hp1 others(1): Show |
a0001a0010 | a0001c0002a0010c0016 | a0001c0002t0002a0010c0016t0002 | a0001c0002t0002g0044 a0001c0002t0002g0252 a0010c0016t0002g0260 |
4 | 400 | 0.0100 | 94 | c.-42 others(105): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3949 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148248 | G | GGGGGGGT others(87): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0013g0077 |
3 | 400 | 0.0075 | 94 | c.-42 others(105): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3949 | chr7 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26148248 | G | GGGGGGGT others(87): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0113 a0001c0002t0001g0019 others(8): Show |
13 | 400 | 0.0325 | 94 | c.-42 others(105): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 3949 | chr7 | TogoVar |