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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NKAIN2_chr6_123798865_124830640 | 124474862 | T | TTATATAC others(40): Show |
intron_variant | MODIFIER | HG03688.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0015 a0001c0001t0008g0051 |
2 | 18 | 0.1111 | 47 | c.273 others(68): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NLGN1_chr3_173392744_174299372 | 173539677 | A | ACATATAT others(40): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 44 | 0.0227 | 47 | c.-32 others(68): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
NLRP11_chr19_55780399_55836999 | 55836045 | A | ACCCGGGA others(40): Show |
upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 442 | 0.0023 | 47 | c.-41 others(58): Show |
NLRP11 | ENSG00000179873.14 | transcript | ENST00000589093.6 | protein_coding | 4047 | chr19 | TogoVar | |||||||
NLRP2_chr19_54961374_55006138 | 54976810 | C | CTTTTTTT others(40): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18944.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0249 a0002c0003t0003g0424 |
2 | 243 | 0.0082 | 47 | c.326 others(62): Show |
NLRP2 | ENSG00000022556.16 | transcript | ENST00000448584.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NME2_chr17_51161411_51176744 | 51176422 | A | AAAAAAAA others(40): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 184 | 0.0054 | 47 | c.*48 others(58): Show |
NME2 | ENSG00000243678.12 | transcript | ENST00000512737.6 | protein_coding | 4679 | chr17 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848229 | A | AAAGAAGA others(40): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00639.hp2 others(4): Show |
a0001a0004a0010 | a0001c0001a0001c0004a0004c0012others(1): Show | a0001c0001t0004a0001c0004t0004a0004c0012t0004others(1): Show | a0001c0001t0004g0005 a0001c0001t0004g0025 a0001c0001t0004g0186 others(3): Show |
7 | 373 | 0.0188 | 47 | c.-74 others(56): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 367 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37873491 | T | TAAACAAT others(40): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG01884.hp2 others(3): Show |
a0003a0011a0012others(1): Show | a0003c0003a0011c0029a0012c0021others(1): Show | a0003c0003t0002a0011c0029t0001a0012c0021t0002others(1): Show | a0003c0003t0002g0269 a0011c0029t0001g0027 a0012c0021t0002g0041 others(1): Show |
6 | 388 | 0.0155 | 47 | c.819 others(64): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 11/17 | chr7 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148963 | A | ACCACACC others(40): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 292 | 0.0034 | 47 | c.901 others(60): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOMO1_chr16_14828721_14901157 | 14867176 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 61 | 0.0164 | 47 | c.180 others(64): Show |
NOMO1 | ENSG00000103512.16 | transcript | ENST00000287667.12 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOS1AP_chr1_162064691_162375475 | 162261539 | A | AGAGAGAG others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 96 | 0.0104 | 47 | c.178 others(66): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136532889 | G | GCAGGCTG others(40): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0197 | 1 | 322 | 0.0031 | 47 | c.141 others(64): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTUM_chr17_81947507_81966187 | 81955637 | G | GCCCCCAC others(40): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 380 | 0.0026 | 47 | c.989 others(61): Show |
NOTUM | ENSG00000185269.12 | transcript | ENST00000409678.8 | protein_coding | 8/10 | chr17 | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853294 | C | CTTTCTTT others(40): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 281 | 0.0036 | 47 | c.805 others(64): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853303 | T | TTTCTCTC others(40): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 300 | 0.0033 | 47 | c.805 others(64): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853367 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0183 | 1 | 297 | 0.0034 | 47 | c.805 others(64): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NPAS2_chr2_100815139_101001829 | 100985131 | A | ATCCTTCC others(40): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0208 | 1 | 286 | 0.0035 | 47 | c.162 others(66): Show |
NPAS2 | ENSG00000170485.17 | transcript | ENST00000335681.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NPIPB6_chr16_28337517_28368508 | 28358971 | A | ACTCAGGA others(40): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 360 | 0.0028 | 47 | c.120 others(64): Show |
NPIPB6 | ENSG00000198156.11 | transcript | ENST00000695563.1 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
NR4A3_chr9_99816885_99871891 | 99868554 | C | CTTACGTC others(40): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 276 | 0.0036 | 47 | c.*46 others(58): Show |
NR4A3 | ENSG00000119508.18 | transcript | ENST00000395097.7 | protein_coding | 1664 | chr9 | TogoVar | |||||||
NRROS_chr3_196634694_196667004 | 196634704 | T | TGGAGAAG others(40): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0002 | a0001c0001t0001g0029 a0001c0001t0001g0163 a0001c0001t0001g0259 others(5): Show |
8 | 444 | 0.0180 | 47 | c.-51 others(58): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 4989 | chr3 | TogoVar | |||||||
NRROS_chr3_196634694_196667004 | 196634731 | G | GGACTGGG others(40): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0391 | 1 | 464 | 0.0022 | 47 | c.-51 others(58): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 4962 | chr3 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50334190 | C | CACATTTT others(40): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03471.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0004a0001c0012 | a0001c0002t0049a0001c0004t0038a0001c0012t0041 | a0001c0002t0049g0081 a0001c0004t0038g0087 a0001c0012t0041g0102 |
3 | 95 | 0.0316 | 47 | c.336 others(68): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02717.hp2 |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0065a0004c0006t0031 | a0001c0002t0065g0116 a0004c0006t0031g0019 |
2 | 8 | 0.2500 | 47 | c.833 others(66): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | |||||||
NSMCE1_chr16_27219994_27273772 | 27262403 | C | CCAATGGA others(40): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 330 | 0.0030 | 47 | c.-11 others(64): Show |
NSMCE1 | ENSG00000169189.17 | transcript | ENST00000361439.9 | protein_coding | 1/7 | chr16 | TogoVar | |||||||
NSRP1_chr17_30111816_30191475 | 30170594 | A | ATTGTGGC others(40): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 280 | 0.0036 | 47 | c.115 others(64): Show |
NSRP1 | ENSG00000126653.18 | transcript | ENST00000247026.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NSUN6_chr10_18540561_18656587 | 18600941 | A | AAAAAAAT others(40): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0324 | 1 | 90 | 0.0111 | 47 | c.658 others(64): Show |
NSUN6 | ENSG00000241058.4 | transcript | ENST00000377304.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
NTM_chr11_131365615_132341822 | 131789494 | A | AAGAAGAA others(40): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 69 | 0.0145 | 47 | c.83- others(66): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131874030 | A | AATATAAT others(40): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02109.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0028 a0001c0002t0002g0065 |
2 | 24 | 0.0833 | 47 | c.83- others(64): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NTSR1_chr20_62703836_62767771 | 62755730 | C | CTCCCTCC others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(244): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(231): Show |
247 | 314 | 0.7866 | 47 | c.916 others(62): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34351198 | T | TAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 63 | 0.0159 | 47 | c.100 others(64): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
NUDT4_chr12_93372925_93413146 | 93385970 | T | TAGTAAAT others(40): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0211 | 1 | 306 | 0.0033 | 47 | c.99+ others(62): Show |
NUDT4 | ENSG00000173598.14 | transcript | ENST00000415493.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NUP188_chr9_128942699_129012096 | 128984124 | A | ATTTTTTT others(40): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 | 1 | 174 | 0.0057 | 47 | c.196 others(64): Show |
NUP188 | ENSG00000095319.14 | transcript | ENST00000372577.2 | protein_coding | 19/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUP54_chr4_76109664_76153397 | 76125673 | G | GGGGGAGA others(40): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 368 | 0.0027 | 47 | c.105 others(64): Show |
NUP54 | ENSG00000138750.16 | transcript | ENST00000264883.8 | protein_coding | 8/11 | chr4 | TogoVar | |||||||
NUP62CL_chrX_107118427_107211433 | 107204787 | A | AAATAAAT others(40): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 278 | 0.0036 | 47 | c.-92 others(64): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | |||||||
NUTM2F_chr9_94313198_94333644 | 94313212 | T | TTATAATA others(40): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 252 | 0.0040 | 47 | c.*52 others(58): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4985 | chr9 | TogoVar | |||||||
NUTM2F_chr9_94313198_94333644 | 94313212 | T | TTATAATA others(40): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02486.hp2 HG02622.hp1 others(6): Show |
a0001a0004 | a0001c0010a0004c0007a0004c0009others(1): Show | a0001c0010t0001a0004c0007t0001a0004c0009t0001others(1): Show | a0001c0010t0001g0035 a0001c0010t0001g0098 a0004c0007t0001g0008 others(2): Show |
9 | 260 | 0.0346 | 47 | c.*52 others(58): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4985 | chr9 | TogoVar | |||||||
NUTM2F_chr9_94313198_94333644 | 94313212 | T | TTATAATA others(40): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(47): Show |
a0001a0002a0008others(3): Show | a0001c0019a0002c0002a0008c0008others(3): Show | a0001c0019t0001a0002c0002t0001a0008c0008t0001others(3): Show | a0001c0019t0001g0117 a0002c0002t0001g0002 a0002c0002t0001g0007 others(14): Show |
50 | 301 | 0.1661 | 47 | c.*52 others(58): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4985 | chr9 | TogoVar | |||||||
NUTM2G_chr9_96923843_96944416 | 96924986 | C | CTTGCTAC others(40): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 372 | 0.0027 | 47 | c.-40 others(58): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 3856 | chr9 | TogoVar | |||||||
NWD1_chr19_16714847_16822953 | 16761358 | T | TTCTTTCT others(40): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG03209.hp2 |
a0010a0026 | a0010c0013a0026c0043 | a0010c0013t0013a0026c0043t0009 | a0010c0013t0013g0172 a0010c0013t0013g0173 a0026c0043t0009g0023 |
3 | 281 | 0.0107 | 47 | c.197 others(64): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225448837 | G | GTTTGCTT others(40): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0068 | 1 | 189 | 0.0053 | 47 | c.221 others(66): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225597512 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00280.hp2 NA18951.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005 | a0001c0001t0001g0102 a0001c0003t0005g0169 |
2 | 43 | 0.0465 | 47 | c.161 others(68): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659312 | A | AAAAAAAG others(40): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 33 | 0.0303 | 47 | c.-19 others(56): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 158 | chr13 | TogoVar | |||||||
OCLN_chr5_69487790_69563104 | 69515539 | C | CCCCCCCA others(40): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03927.hp2 NA18961.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0002g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 others(4): Show |
7 | 33 | 0.2121 | 47 | c.891 others(64): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885737 | T | TATAATAT others(40): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0274 | 1 | 302 | 0.0033 | 47 | c.261 others(68): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | |||||||
OLFM3_chr1_101797560_102001926 | 101991016 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 142 | 0.0070 | 47 | c.69+ others(62): Show |
OLFM3 | ENSG00000118733.17 | transcript | ENST00000370103.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133440762 | T | TTTATATA others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 59 | 0.0169 | 47 | c.61+ others(64): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64094108 | G | GGGGGGCA others(40): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 51 | 0.0196 | 47 | c.233 others(64): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64094330 | T | TGTGGGTC others(40): Show |
intron_variant | MODIFIER | NA20905.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0007t0010 | a0001c0001t0010g0037 a0001c0007t0010g0051 |
2 | 54 | 0.0370 | 47 | c.233 others(64): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPTN_chr10_13095163_13143308 | 13114814 | T | TTATATAT others(40): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 a0001c0001t0001g0367 a0001c0001t0001g0368 others(1): Show |
4 | 126 | 0.0317 | 47 | c.553 others(64): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR10H5_chr19_15782661_15805357 | 15804786 | A | AGGGGGGG others(40): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 394 | 0.0025 | 47 | c.*97 others(58): Show |
OR10H5 | ENSG00000172519.10 | transcript | ENST00000642092.2 | protein_coding | 4430 | chr19 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104695393 | C | CAGGAATA others(40): Show |
frameshift_variant others(1): Show |
HIGH | HG03704.hp1 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0000 | 1 | 394 | 0.0025 | 47 | c.877 others(54): Show |
p.His others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 924/945 | 924/945 | 308/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |