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 | 80692400 | T | TTAGATAG others(97): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18970.hp1 NA18974.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0336 a0001c0001t0006g0337 a0001c0001t0006g0338 others(2): Show |
5 | 242 | 0.0207 | 104 | c.134 others(125): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80693323 | A | ATAAATAT others(97): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 359 | 0.0028 | 104 | c.134 others(125): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57450287 | G | GAAAGAAA others(97): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0055a0001c0001t0080others(1): Show | a0001c0001t0001g0025 a0001c0001t0055g0030 a0001c0001t0080g0134 others(1): Show |
4 | 159 | 0.0252 | 104 | c.405 others(123): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 760515 | G | GGGCCCGG others(97): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0265 | 1 | 386 | 0.0026 | 104 | c.-41 others(113): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 218 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767549 | G | GGGGGGCG others(97): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 HG03225.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 others(1): Show |
4 | 368 | 0.0109 | 104 | c.159 others(119): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767850 | A | AGGAGGGG others(97): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0011 | a0011c0013 | a0011c0013t0007 | a0011c0013t0007g0205 | 1 | 320 | 0.0031 | 104 | c.159 others(121): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTCL1_chr18_8700556_8837778 | 8747398 | G | GCTGTCTG others(97): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0031 | a0028c0031t0001 | a0028c0031t0001g0012 a0028c0031t0001g0013 |
2 | 334 | 0.0060 | 104 | c.143 others(125): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186540807 | T | TGAAGGAC others(97): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 2 | 229 | 0.0087 | 104 | c.185 others(121): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195745523 | A | ATATATAT others(97): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0027 | a0027c0033 | a0027c0033t0002 | a0027c0033t0002g0189 | 1 | 113 | 0.0088 | 104 | c.*16 others(115): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1247 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195745524 | T | TATATATA others(97): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0028 | a0028c0034 | a0028c0034t0002 | a0028c0034t0002g0193 | 1 | 232 | 0.0043 | 104 | c.*16 others(115): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1246 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195745524 | T | TATATATA others(97): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0057 | a0057c0129 | a0057c0129t0002 | a0057c0129t0002g0007 | 1 | 232 | 0.0043 | 104 | c.*16 others(115): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1246 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110681088 | T | TATATTAA others(97): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0180 | 1 | 175 | 0.0057 | 104 | c.80- others(119): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76702873 | G | GTATATAT others(97): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 365 | 0.0027 | 104 | c.342 others(121): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MXRA7_chr17_76674566_76715965 | 76702873 | G | GTATATAT others(97): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03017.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0003g0150 a0001c0001t0003g0151 others(1): Show |
4 | 368 | 0.0109 | 104 | c.342 others(121): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771266 | A | ATATAAAA others(97): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 331 | 0.0030 | 104 | c.-22 others(115): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2129 | chr3 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTGA others(97): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0011 | a0011c0028 | a0011c0028t0001 | a0011c0028t0001g0319 | 1 | 166 | 0.0060 | 104 | c.415 others(121): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTGA others(97): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03098.hp2 |
a0001a0006a0010 | a0001c0060a0006c0061a0010c0070 | a0001c0060t0001a0006c0061t0001a0010c0070t0001 | a0001c0060t0001g0243 a0006c0061t0001g0139 a0010c0070t0001g0136 |
3 | 168 | 0.0179 | 104 | c.415 others(121): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77192915 | G | GGTAGTTG others(97): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG01358.hp2 others(11): Show |
a0005a0006a0007 | a0005c0032a0005c0080a0006c0006others(2): Show | a0005c0032t0001a0005c0080t0001a0006c0006t0001others(2): Show | a0005c0032t0001g0005 a0005c0032t0001g0222 a0005c0080t0001g0127 others(11): Show |
14 | 179 | 0.0782 | 104 | c.415 others(121): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYOC_chr1_171630417_171657688 | 171648991 | G | GTATTTTT others(97): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 432 | 0.0023 | 104 | c.604 others(121): Show |
MYOC | ENSG00000034971.17 | transcript | ENST00000037502.11 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
MYOM2_chr8_2040046_2150456 | 2081320 | G | GTTTGATT others(97): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0123 | a0002c0123t0001 | a0002c0123t0001g0193 | 1 | 139 | 0.0072 | 104 | c.151 others(123): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
NAALAD2_chr11_90129663_90197894 | 90154998 | T | TATATTAT others(97): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 360 | 0.0028 | 104 | c.796 others(121): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | chr11 | TogoVar | |||||||
NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATAT others(97): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0009 | 1 | 9 | 0.1111 | 104 | c.56- others(121): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATAT others(97): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00673.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0097 others(23): Show |
26 | 34 | 0.7647 | 104 | c.56- others(121): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21265015 | T | TTATATGT others(97): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0013 | 1 | 9 | 0.1111 | 104 | c.56- others(121): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCK1_chr3_136857208_136956606 | 136893196 | A | ACACACAC others(97): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0024 | 1 | 90 | 0.0111 | 104 | c.-19 others(123): Show |
NCK1 | ENSG00000158092.7 | transcript | ENST00000481752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CATATATA others(97): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 166 | 0.0060 | 104 | c.-17 others(123): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CATATATA others(97): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 166 | 0.0060 | 104 | c.-17 others(123): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCK2_chr2_105739912_105899272 | 105835388 | C | CGTATATA others(97): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 a0001c0001t0001g0306 |
2 | 167 | 0.0120 | 104 | c.-17 others(123): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
NCKAP5_chr2_132666788_133573463 | 132700129 | T | TTTTGAGA others(97): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0051 | 1 | 70 | 0.0143 | 104 | c.571 others(125): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
NCOA1_chr2_24486254_24775702 | 24516977 | C | CATATACG others(97): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0271 a0001c0001t0001g0306 a0001c0001t0001g0307 others(1): Show |
4 | 66 | 0.0606 | 104 | c.-39 others(125): Show |
NCOA1 | ENSG00000084676.16 | transcript | ENST00000348332.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NCOR1_chr17_16024157_16220534 | 16095666 | G | GGGGGGTC others(97): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20300.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 |
3 | 267 | 0.0112 | 104 | c.282 others(123): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(97): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0025a0001c0002t0005others(2): Show | a0001c0001t0002g0182 a0001c0001t0002g0206 a0001c0001t0025g0195 others(8): Show |
11 | 163 | 0.0675 | 104 | c.282 others(123): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(97): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 153 | 0.0065 | 104 | c.282 others(123): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(97): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0024 | a0001c0001t0012g0028 a0001c0001t0024g0135 |
2 | 154 | 0.0130 | 104 | c.282 others(123): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(97): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0049 | 1 | 153 | 0.0065 | 104 | c.282 others(123): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(97): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0243 |
2 | 154 | 0.0130 | 104 | c.282 others(123): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCS1_chr9_130167404_130242303 | 130221776 | A | AAATATAA others(97): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0159 | 1 | 346 | 0.0029 | 104 | c.308 others(119): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995550 | C | CTATATAC others(97): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0058 | 1 | 264 | 0.0038 | 104 | c.-75 others(123): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995572 | A | ATATATAC others(97): Show |
intron_variant | MODIFIER | HG01358.hp2 HG03710.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0248 a0001c0002t0003g0278 |
2 | 162 | 0.0123 | 104 | c.-75 others(123): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 565736 | A | AGGAGAGC others(97): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 0.0028 | 104 | c.-19 others(115): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1268 | chr16 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535671 | T | TGGGGGGG others(97): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0069 | a0001c0069t0004 | a0001c0069t0004g0086 | 1 | 214 | 0.0047 | 104 | c.140 others(121): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPIPA8_chr16_18312919_18341736 | 18341431 | G | GGGGGAGG others(97): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 40 | 0.0250 | 104 | c.-51 others(115): Show |
NPIPA8 | ENSG00000214940.9 | transcript | ENST00000525596.6 | protein_coding | 4696 | chr16 | TogoVar | |||||||
NPIPB5_chr16_22505891_22541535 | 22534941 | C | CTTCCACC others(97): Show |
frameshift_variant others(1): Show |
HIGH | HG00621.hp1 | a0009 | a0009c0004 | a0009c0004t0010 | a0009c0004t0010g0043 | 1 | 44 | 0.0227 | 104 | c.195 others(113): Show |
p.Val others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | chr16 | TogoVar | |||
NPSR1_chr7_34653218_34854978 | 34792665 | T | TTATATAT others(97): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG02080.hp1 others(10): Show |
a0001a0003a0006others(1): Show | a0001c0009a0003c0010a0006c0006others(1): Show | a0001c0009t0001a0003c0010t0004a0006c0006t0001others(2): Show | a0001c0009t0001g0048 a0001c0009t0001g0066 a0003c0010t0004g0038 others(10): Show |
13 | 184 | 0.0707 | 104 | c.384 others(123): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34792687 | A | ATTTATAT others(97): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 |
a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0168 a0013c0015t0002g0169 |
2 | 258 | 0.0078 | 104 | c.384 others(123): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34792703 | A | ATATATAT others(97): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0145 | 1 | 192 | 0.0052 | 104 | c.384 others(123): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132071263 | C | CACTGACC others(97): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0004g0005 |
2 | 63 | 0.0317 | 104 | c.168 others(123): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTN4_chr12_95652807_95795764 | 95655342 | C | CATGTTGG others(97): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 67 | 0.0149 | 104 | c.*37 others(115): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2464 | chr12 | TogoVar | |||||||
NTN4_chr12_95652807_95795764 | 95655346 | T | TTGGGATG others(97): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0084 | 1 | 267 | 0.0037 | 104 | c.*37 others(115): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2460 | chr12 | TogoVar | |||||||
NTNG2_chr9_132157058_132249526 | 132173939 | G | GCACCATG others(97): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 239 | 0.0042 | 104 | c.213 others(121): Show |
NTNG2 | ENSG00000196358.12 | transcript | ENST00000393229.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |