| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LAMC1_chr1_183018420_183150592 | 183149453 | T | TCCTCACA others(405): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 166 | 0.0060 | 412 | c.*66 others(423): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 3862 | chr1 | TogoVar | |||||||
| LARS1_chr5_146108034_146187650 | 146174505 | T | TATATATA others(405): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 157 | 0.0064 | 412 | c.126 others(429): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 960364 | C | CACAGACT others(405): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01928.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 a0001c0005t0001g0113 a0001c0005t0001g0114 others(2): Show |
5 | 288 | 0.0174 | 412 | c.194 others(429): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| LRP8_chr1_53237364_53333070 | 53283446 | C | CACTTACT others(405): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0005a0001c0001t0033a0001c0001t0041others(2): Show | a0001c0001t0005g0013 a0001c0001t0005g0244 a0001c0001t0033g0020 others(3): Show |
7 | 283 | 0.0247 | 412 | c.368 others(429): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(405): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0001 | 2 | 253 | 0.0079 | 412 | c.129 others(429): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LYPD8_chr1_248734415_248760759 | 248746753 | G | GCACCCAC others(405): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0105 | 1 | 371 | 0.0027 | 412 | c.338 others(429): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
| MAGEF1_chr3_184705364_184717064 | 184712991 | G | GCCTTCCT others(405): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 360 | 0.0028 | 412 | c.-11 others(423): Show |
MAGEF1 | ENSG00000177383.5 | transcript | ENST00000317897.5 | protein_coding | 928 | chr3 | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATT others(405): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0166 | 1 | 159 | 0.0063 | 412 | c.343 others(429): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATT others(405): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 159 | 0.0063 | 412 | c.343 others(429): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATATTCA others(405): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 109 | 0.0092 | 412 | c.343 others(429): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MCOLN2_chr1_84920583_85002113 | 84987489 | C | CATATATA others(405): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0048 | 1 | 249 | 0.0040 | 412 | c.77+ others(427): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
| METTL25B_chr1_156723469_156741960 | 156735537 | A | AAAAAAAA others(405): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18959.hp2 NA19066.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0230 |
4 | 376 | 0.0106 | 412 | c.112 others(429): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735538 | A | AAAAAAAA others(405): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01255.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 4 | 384 | 0.0104 | 412 | c.112 others(429): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| METTL25B_chr1_156723469_156741960 | 156735538 | A | AAAAAAAA others(405): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 381 | 0.0026 | 412 | c.112 others(429): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MLC1_chr22_50054391_50090426 | 50057629 | C | CAGGTCTG others(405): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 210 | 0.0048 | 412 | c.*39 others(423): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 1761 | chr22 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735537 | A | AAAAAAAA others(405): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 NA18959.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0045 |
4 | 350 | 0.0114 | 412 | c.*18 others(423): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1765 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735538 | A | AAAAAAAA others(405): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01106.hp2 HG01255.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 4 | 359 | 0.0111 | 412 | c.*18 others(423): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1764 | chr1 | TogoVar | |||||||
| MRPL24_chr1_156732303_156746088 | 156735538 | A | AAAAAAAA others(405): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 356 | 0.0028 | 412 | c.*18 others(423): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1764 | chr1 | TogoVar | |||||||
| MSLN_chr16_755734_773862 | 767566 | T | TGCGTGGA others(405): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 246 | 0.0041 | 412 | c.159 others(429): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767711 | G | GGCGTGGA others(405): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 109 | 0.0092 | 412 | c.159 others(429): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(405): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18946.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0050 a0001c0001t0001g0051 |
3 | 10 | 0.3000 | 412 | c.710 others(429): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(405): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0113 | 1 | 3 | 0.3333 | 412 | c.332 others(431): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(405): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 3 | 0.3333 | 412 | c.332 others(431): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 40084517 | G | GTAGATAA others(405): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 3 | 0.3333 | 412 | c.332 others(431): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64173701 | G | GTAGTTGT others(405): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01978.hp2 HG02129.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(4): Show | a0001c0001t0001g0042 a0001c0001t0016g0043 a0001c0002t0002g0036 others(7): Show |
10 | 219 | 0.0457 | 412 | c.-99 others(429): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(405): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 32 | 0.0313 | 412 | c.289 others(429): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(405): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 32 | 0.0313 | 412 | c.289 others(429): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(405): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0127 | 1 | 146 | 0.0068 | 412 | c.*34 others(423): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | |||||||
| NCR1_chr19_54901148_54918073 | 54916317 | C | CTTTTTTT others(405): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0102 | 1 | 146 | 0.0068 | 412 | c.*34 others(423): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3245 | chr19 | TogoVar | |||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAT others(405): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0009 | a0007c0009t0027 | a0007c0009t0027g0004 | 1 | 202 | 0.0050 | 412 | c.48+ others(427): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571109 | C | CTGCCTAG others(405): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 11 | 0.0909 | 412 | c.*26 others(423): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
| NLRP8_chr19_55942832_55993629 | 55993551 | C | CCCCTCCC others(405): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0014 | a0005c0014t0018 | a0005c0014t0018g0172 | 1 | 275 | 0.0036 | 412 | c.*56 others(423): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4923 | chr19 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535856 | C | CCCGGGGC others(405): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0029 | 1 | 320 | 0.0031 | 412 | c.140 others(429): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| OSGIN1_chr16_83948240_83971332 | 83951962 | C | CCCTCCCT others(405): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 61 | 0.0164 | 412 | c.-14 others(423): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1277 | chr16 | TogoVar | |||||||
| P2RY8_chrX_1457581_1542185 | 1468724 | T | TCCGGAAG others(405): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0054 | 1 | 97 | 0.0103 | 412 | c.-24 others(429): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 122 | 0.0082 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 122 | 0.0082 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 122 | 0.0082 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 NA18612.hp1 NA18942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0039 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0002g0012 others(1): Show |
5 | 126 | 0.0397 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 122 | 0.0082 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 123 | 0.0163 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(405): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 122 | 0.0082 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721656 | A | ATATATGT others(405): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 278 | 0.0036 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3176 | chr20 | TogoVar | |||||||
| PAX1_chr20_21700664_21723481 | 21721656 | A | ATATATGT others(405): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 278 | 0.0036 | 412 | c.*70 others(423): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3176 | chr20 | TogoVar | |||||||
| PCDH15_chr10_53797771_54806231 | 54332348 | A | AATATAAT others(405): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0033 | a0033c0037 | a0033c0037t0013 | a0033c0037t0013g0064 | 1 | 97 | 0.0103 | 412 | c.595 others(429): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 6/37 | chr10 | TogoVar | |||||||
| PCDH15_chr10_53816099_54806231 | 54332348 | A | AATATAAT others(405): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0027 | a0027c0042 | a0027c0042t0004 | a0027c0042t0004g0060 | 1 | 89 | 0.0112 | 412 | c.595 others(429): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(405): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 321 | 0.0031 | 412 | c.-26 others(423): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76063964 | C | CCCCCCCC others(405): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0014 | a0014c0032 | a0014c0032t0009 | a0014c0032t0009g0132 | 1 | 143 | 0.0070 | 412 | c.633 others(429): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PIGQ_chr16_564968_589109 | 571109 | C | CTGCCTAG others(405): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0316 | 1 | 11 | 0.0909 | 412 | c.-10 others(429): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6455726 | A | AGGGGAGG others(405): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0038 | 1 | 215 | 0.0047 | 412 | c.262 others(427): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar |