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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MPPED1_chr22_43407014_43512848 | 43499780 | A | AGGTGGTG others(179): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0003 | a0001c0001t0013g0117 a0001c0002t0003g0078 |
2 | 250 | 0.0080 | 186 | c.748 others(203): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500275 | T | TGGTGGTG others(179): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18612.hp1 NA19002.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0178 a0001c0005t0001g0051 a0001c0005t0001g0052 |
3 | 250 | 0.0120 | 186 | c.748 others(203): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203083 | G | GGCGGGGG others(179): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001 | 1 | 140 | 0.0071 | 186 | c.114 others(205): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60206512 | T | TATGTATA others(179): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0071 | 1 | 410 | 0.0024 | 186 | c.484 others(201): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767711 | G | GGCGTGGA others(179): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 388 | 0.0026 | 186 | c.159 others(203): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 769164 | G | GCCCCGGC others(179): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 HG03688.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0275 a0003c0004t0003g0276 |
2 | 388 | 0.0052 | 186 | c.*43 others(195): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 303 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 769176 | G | GCCCCGGC others(179): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0013 | a0013c0032 | a0013c0032t0002 | a0013c0032t0002g0332 | 1 | 388 | 0.0026 | 186 | c.*44 others(195): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 315 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 769205 | A | ACCCCCGG others(179): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0273 | 1 | 388 | 0.0026 | 186 | c.*47 others(195): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 344 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 769224 | G | GCCCCAGC others(179): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 NA19057.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 2 | 388 | 0.0052 | 186 | c.*49 others(195): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 363 | chr16 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 769259 | A | AGCCCCAG others(179): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0324 | 1 | 388 | 0.0026 | 186 | c.*52 others(195): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 398 | chr16 | TogoVar | |||||||
MTMR12_chr5_32222007_32317939 | 32228595 | T | TATATATA others(179): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0010 | 1 | 364 | 0.0028 | 186 | c.*11 others(197): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 16/16 | 1182 | chr5 | TogoVar | ||||||
MTTP_chr4_99569824_99628997 | 99588843 | A | ACATATAT others(179): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0014 | a0014c0019 | a0014c0019t0014 | a0014c0019t0014g0319 | 1 | 364 | 0.0028 | 186 | c.394 others(201): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767737 | C | CACCACCA others(179): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0062 | a0062c0200 | a0062c0200t0008 | a0062c0200t0008g0222 | 1 | 249 | 0.0040 | 186 | c.135 others(205): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770930 | A | AATAAAAA others(179): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0074 | 1 | 350 | 0.0029 | 186 | c.-25 others(197): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2465 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770930 | A | AATAAAAA others(179): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0005 a0003c0003t0001g0063 |
2 | 350 | 0.0057 | 186 | c.-25 others(197): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2465 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771186 | A | TTTATATT others(179): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03017.hp2 HG03041.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 others(4): Show |
10 | 350 | 0.0286 | 186 | c.-23 others(197): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2210 | chr3 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8542777 | T | TTATTTTT others(179): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0121 | 1 | 342 | 0.0029 | 186 | c.152 others(203): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYO1F_chr19_8515778_8582442 | 8543898 | T | TGGTGCTG others(179): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 342 | 0.0029 | 186 | c.152 others(203): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295565 | C | CAGAGAGA others(179): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 104 | 0.0096 | 186 | c.-52 others(207): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NAB1_chr2_190644083_190697766 | 190690012 | C | CTATACAT others(179): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0145 | 1 | 374 | 0.0027 | 186 | c.137 others(203): Show |
NAB1 | ENSG00000138386.17 | transcript | ENST00000337386.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NEGR1_chr1_71390943_72287539 | 71928131 | C | CATATGTA others(179): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0003 | a0001c0001t0002g0043 a0001c0001t0005g0063 a0001c0002t0003g0044 |
3 | 64 | 0.0469 | 186 | c.409 others(203): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79400824 | A | ACCCCTCC others(179): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0006 | a0006c0040 | a0006c0040t0002 | a0006c0040t0002g0060 | 1 | 322 | 0.0031 | 186 | c.127 others(203): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995339 | T | TGCGTACA others(179): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0319 | 1 | 362 | 0.0028 | 186 | c.-75 others(205): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NHEJ1_chr2_219064357_219165815 | 219159566 | T | TATATATA others(179): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0342 | 1 | 350 | 0.0029 | 186 | c.-1+ others(201): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
NLRP12_chr19_53788741_53829314 | 53819624 | T | TATATGCG others(179): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0383 | 1 | 416 | 0.0024 | 186 | c.289 others(203): Show |
NLRP12 | ENSG00000142405.23 | transcript | ENST00000324134.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP12_chr19_53788741_53829314 | 53819629 | G | GTATATAT others(179): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01517.hp2 HG02074.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0343 others(7): Show |
10 | 416 | 0.0240 | 186 | c.289 others(203): Show |
NLRP12 | ENSG00000142405.23 | transcript | ENST00000324134.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55930880 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0412 | 1 | 440 | 0.0023 | 186 | c.319 others(203): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55998672 | G | GTGTGTGT others(179): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG06807.hp2 |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0009c0013t0001 | a0001c0001t0001g0353 a0009c0013t0001g0352 |
2 | 396 | 0.0051 | 186 | c.-10 others(197): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1053 | chr19 | TogoVar | |||||||
NLRP5_chr19_55994726_56066810 | 55998728 | A | ATATGTGT others(179): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0014 | a0014c0131 | a0014c0131t0001 | a0014c0131t0001g0315 | 1 | 396 | 0.0025 | 186 | c.-99 others(195): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 997 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CTCCCCCC others(179): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0012 | a0012c0016 | a0012c0016t0012 | a0012c0016t0012g0250 | 1 | 350 | 0.0029 | 186 | c.*55 others(197): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
NMU_chr4_55590231_55641298 | 55604017 | G | GTATATAT others(179): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0266 | 1 | 412 | 0.0024 | 186 | c.435 others(203): Show |
NMU | ENSG00000109255.11 | transcript | ENST00000264218.7 | protein_coding | 7/9 | chr4 | TogoVar | |||||||
NTS_chr12_85869295_85887992 | 85879483 | A | ATGTATAT others(179): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 420 | 0.0071 | 186 | c.360 others(203): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ODAD3_chr19_11415605_11440121 | 11425657 | A | ATGCATAC others(179): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 398 | 0.0025 | 186 | c.963 others(201): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
OR10R2_chr1_158467220_158485936 | 158473767 | C | CCTTCTTC others(179): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02300.hp1 HG02647.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0074 a0003c0003t0001g0015 a0003c0003t0001g0075 others(1): Show |
9 | 446 | 0.0202 | 186 | c.27+ others(201): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR1F1_chr16_3183204_3211556 | 3197841 | A | AGGAGAGG others(179): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 2 | 328 | 0.0061 | 186 | c.-12 others(203): Show |
OR1F1 | ENSG00000168124.3 | transcript | ENST00000304646.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR4K1_chr14_19925917_19941757 | 19937355 | T | TATAATAT others(179): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0014 | 1 | 252 | 0.0040 | 186 | c.*75 others(195): Show |
OR4K1 | ENSG00000155249.5 | transcript | ENST00000641172.1 | protein_coding | 599 | chr14 | TogoVar | |||||||
OR52N2_chr11_5803924_5826483 | 5812330 | T | TAAAAATA others(179): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0028 | 2 | 402 | 0.0050 | 186 | c.-55 others(203): Show |
OR52N2 | ENSG00000180988.3 | transcript | ENST00000317037.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1468892 | T | TCTCCCCT others(179): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 114 | 0.0088 | 186 | c.-24 others(203): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1468904 | T | TCCCCTCT others(179): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02004.hp1 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0063 others(3): Show |
6 | 114 | 0.0526 | 186 | c.-24 others(203): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1469091 | T | TCCCCTCC others(179): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0006 | 1 | 114 | 0.0088 | 186 | c.-24 others(203): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(179): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0144 | 1 | 308 | 0.0033 | 186 | c.226 others(205): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204648652 | A | AATATATT others(179): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19030.hp2 |
a0003a0004 | a0003c0010a0004c0011 | a0003c0010t0019a0004c0011t0003 | a0003c0010t0019g0030 a0004c0011t0003g0043 |
2 | 54 | 0.0370 | 186 | c.121 others(205): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54332312 | A | AATATAAT others(179): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 HG02896.hp2 others(1): Show |
a0001a0014a0025 | a0001c0001a0014c0033a0025c0027 | a0001c0001t0014a0014c0033t0017a0025c0027t0001 | a0001c0001t0014g0067 a0001c0001t0014g0074 a0014c0033t0017g0023 others(1): Show |
4 | 102 | 0.0392 | 186 | c.595 others(203): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54332312 | A | AATATAAT others(179): Show |
intron_variant | MODIFIER | HG01069.hp2 NA19043.hp2 |
a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0061 a0007c0010t0003g0068 |
2 | 94 | 0.0213 | 186 | c.595 others(203): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285902 | T | TCCCAACC others(179): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 NA20129.hp1 |
a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0033 a0001c0012t0001g0077 |
3 | 436 | 0.0069 | 186 | c.111 others(203): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285902 | T | TCCCAACC others(179): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19030.hp2 |
a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0034 | 2 | 436 | 0.0046 | 186 | c.111 others(203): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(179): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 342 | 0.0029 | 186 | c.20- others(201): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(179): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 342 | 0.0029 | 186 | c.20- others(201): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7803433 | C | CAAAAAAT others(179): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03710.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 a0002c0002t0001g0274 |
2 | 410 | 0.0049 | 186 | c.980 others(201): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX10_chr1_2398974_2417564 | 2401351 | T | TCCTCCCT others(179): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 358 | 0.0028 | 186 | c.*44 others(197): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2622 | chr1 | TogoVar |