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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(465): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0306 | 1 | 408 | 0.0025 | 472 | c.633 others(487): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(465): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0031 | a0031c0150 | a0031c0150t0003 | a0031c0150t0003g0094 | 1 | 408 | 0.0025 | 472 | c.633 others(487): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGTGCC others(465): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0024 | a0001c0024t0004 | a0001c0024t0004g0059 | 1 | 408 | 0.0025 | 472 | c.633 others(487): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGTGCC others(465): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0212 | 1 | 408 | 0.0025 | 472 | c.633 others(487): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22819134 | T | TCCCTCCT others(465): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 350 | 0.0029 | 472 | c.485 others(489): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22819134 | T | TCCTTCCC others(465): Show |
intron_variant | MODIFIER | HG03017.hp1 NA20752.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0002 | a0001c0002t0001g0063 a0001c0004t0002g0183 |
2 | 350 | 0.0057 | 472 | c.485 others(489): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22819134 | T | TCCTTCCC others(465): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 a0001c0001t0001g0321 |
2 | 350 | 0.0057 | 472 | c.485 others(489): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105307514 | T | TATATATA others(465): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 141 | 0.0071 | 472 | c.697 others(491): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161833 | G | GACCCCTG others(465): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 472 | c.-68 others(481): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 625 | chr11 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(465): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0158 | 1 | 158 | 0.0063 | 472 | c.*11 others(493): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TACACAAG others(465): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 232 | 0.0043 | 472 | c.-67 others(491): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5090463 | C | CCTCTTTC others(465): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 270 | 0.0037 | 472 | c.918 others(489): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769349 | A | ACCCCCCC others(465): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 356 | 0.0028 | 472 | c.-48 others(483): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4832 | chr9 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCGGT others(465): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0267 | 1 | 414 | 0.0024 | 472 | c.171 others(489): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(465): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0226 a0001c0001t0004g0235 |
2 | 296 | 0.0068 | 472 | c.368 others(489): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(465): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 116 | 0.0086 | 472 | c.62+ others(491): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(465): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 364 | 0.0028 | 472 | c.52+ others(485): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAGEF1_chr3_184705364_184717064 | 184712991 | G | GCCTTCCT others(465): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 456 | 0.0022 | 472 | c.-11 others(483): Show |
MAGEF1 | ENSG00000177383.5 | transcript | ENST00000317897.5 | protein_coding | 928 | chr3 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19238066 | T | TATAATTA others(465): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03669.hp2 NA19043.hp2 |
a0040a0084a0094 | a0040c0032a0084c0030a0094c0031 | a0040c0032t0001a0084c0030t0001a0094c0031t0001 | a0040c0032t0001g0124 a0084c0030t0001g0125 a0094c0031t0001g0136 |
3 | 152 | 0.0197 | 472 | c.299 others(493): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(465): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 191 | 0.0052 | 472 | c.343 others(489): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396717 | T | TATATATA others(465): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 191 | 0.0052 | 472 | c.343 others(489): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(465): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 191 | 0.0052 | 472 | c.343 others(489): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(465): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02647.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0249 a0001c0002t0001g0103 a0001c0002t0001g0104 others(1): Show |
4 | 382 | 0.0105 | 472 | c.-10 others(483): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGGGAGGA others(465): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0026 | 1 | 250 | 0.0040 | 472 | c.225 others(489): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690701 | T | TATATATA others(465): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18957.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0057 a0001c0001t0003g0055 a0001c0001t0003g0056 |
3 | 326 | 0.0092 | 472 | c.358 others(489): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690701 | T | TATATATA others(465): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0037 a0001c0001t0009g0027 |
2 | 326 | 0.0061 | 472 | c.358 others(489): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 1952717 | T | TCCTTCCT others(465): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0007 | a0001c0007t0018 | a0001c0007t0018g0068 | 1 | 104 | 0.0096 | 472 | c.153 others(489): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 8/24 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56725501 | G | GTAACAAT others(465): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 160 | 0.0063 | 472 | c.-38 others(483): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 3741 | chrX | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(465): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0004 | a0004c0015 | a0004c0015t0031 | a0004c0015t0031g0064 | 1 | 234 | 0.0043 | 472 | c.816 others(487): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(465): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01496.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0095a0002c0013a0002c0120others(6): Show | a0001c0095t0001a0002c0013t0020a0002c0120t0018others(7): Show | a0001c0095t0001g0144 a0002c0013t0020g0092 a0002c0120t0018g0141 others(7): Show |
10 | 234 | 0.0427 | 472 | c.816 others(487): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656482 | C | CAGCGCAC others(465): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0282 | 1 | 366 | 0.0027 | 472 | c.-16 others(493): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTCTGGC others(465): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 472 | c.*26 others(483): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTCTGGC others(465): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 424 | 0.0047 | 472 | c.*26 others(483): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTCTGGC others(465): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 472 | c.*26 others(483): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTC others(465): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 472 | c.*26 others(483): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(465): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 356 | 0.0028 | 472 | c.91+ others(485): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(465): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0196 | 1 | 344 | 0.0029 | 472 | c.154 others(489): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(465): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0029 | a0002c0002t0029g0033 | 1 | 344 | 0.0029 | 472 | c.154 others(489): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(465): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0088 | 1 | 344 | 0.0029 | 472 | c.154 others(489): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(465): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0051 | a0002c0002t0051g0028 | 1 | 344 | 0.0029 | 472 | c.154 others(489): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949373 | G | GCGGCCTC others(465): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0052 | 1 | 242 | 0.0041 | 472 | c.360 others(491): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR1F1_chr16_3183204_3211556 | 3197778 | G | GGAGGGAG others(465): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 328 | 0.0031 | 472 | c.-12 others(489): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896752 | A | AGACATGG others(465): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0242 others(1): Show |
4 | 292 | 0.0137 | 472 | c.165 others(487): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896962 | C | CGGGCCAT others(465): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 292 | 0.0034 | 472 | c.165 others(487): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896962 | C | CGGGCCAT others(465): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(70): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0002g0010 others(70): Show |
73 | 292 | 0.2500 | 472 | c.165 others(487): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45896962 | C | CGGGCCAT others(465): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0266 | 1 | 292 | 0.0034 | 472 | c.165 others(487): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(465): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 436 | 0.0023 | 472 | c.-26 others(483): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(465): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 472 | c.-26 others(483): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977751 | A | ACTCCCCC others(465): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 408 | 0.0025 | 472 | c.215 others(491): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTCTGGC others(465): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0163 | 1 | 408 | 0.0025 | 472 | c.-10 others(489): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar |