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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LYPD8_chr1_248734415_248760759 | 248742461 | C | CGGGGGAG others(206): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG03492.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0106 others(7): Show |
11 | 374 | 0.0294 | 213 | c.476 others(230): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6579162 | C | CCACCACC others(206): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0110 | 1 | 362 | 0.0028 | 213 | c.391 others(228): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19477854 | A | AGGGGGGA others(206): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0016 | a0016c0013 | a0016c0013t0001 | a0016c0013t0001g0102 | 1 | 163 | 0.0061 | 213 | c.525 others(230): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19477908 | G | GGGGGGAG others(206): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 163 | 0.0061 | 213 | c.525 others(230): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894732 | C | CATATATA others(206): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0040 | 1 | 102 | 0.0098 | 213 | c.-38 others(232): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4663576 | C | CAGCCTCC others(206): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 | 1 | 410 | 0.0024 | 213 | c.287 others(230): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771338 | A | AATTATGT others(206): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 | 1 | 350 | 0.0029 | 213 | c.-21 others(224): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2057 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771338 | A | AATTATGT others(206): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 2 | 350 | 0.0057 | 213 | c.-21 others(224): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2057 | chr3 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2083750 | G | GGGGAGGG others(206): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0066 | 1 | 104 | 0.0096 | 213 | c.-30 others(234): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 3/24 | chr2 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(206): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 HG03239.hp2 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0025 a0001c0005t0003g0050 a0001c0005t0003g0200 |
3 | 223 | 0.0135 | 213 | c.289 others(230): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NCK2_chr2_105739912_105899272 | 105807767 | T | TCTCCCTC others(206): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 334 | 0.0030 | 213 | c.-20 others(232): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAA others(206): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0041 | 1 | 348 | 0.0029 | 213 | c.48+ others(228): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NDUFV3_chr21_42888309_42918299 | 42894408 | A | AATATATA others(206): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0152 | 1 | 348 | 0.0029 | 213 | c.48+ others(228): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NECAB2_chr16_83963244_84007776 | 83974991 | C | CGGGGATG others(206): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0016 | a0003c0016t0020 | a0003c0016t0020g0216 | 1 | 354 | 0.0028 | 213 | c.226 others(230): Show |
NECAB2 | ENSG00000103154.10 | transcript | ENST00000305202.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NEXN_chr1_77883624_77948895 | 77887912 | T | TTTCTTCT others(206): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 268 | 0.0037 | 213 | c.-90 others(222): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 711 | chr1 | TogoVar | |||||||
NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCA others(206): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0258 a0001c0001t0009g0244 a0001c0001t0009g0249 |
3 | 316 | 0.0095 | 213 | c.133 others(234): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(206): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0006 | a0006c0006 | a0006c0006t0017 | a0006c0006t0017g0287 | 1 | 366 | 0.0027 | 213 | c.-16 others(234): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(206): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18747.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0232 a0002c0002t0002g0268 |
2 | 366 | 0.0055 | 213 | c.-16 others(234): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCCCT others(206): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0005 | a0005c0005t0015 | a0005c0005t0015g0167 | 1 | 350 | 0.0029 | 213 | c.*55 others(224): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
NLRP8_chr19_55942832_55993629 | 55993508 | C | CCCCCCCT others(206): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0005 | a0005c0005t0015 | a0005c0005t0015g0171 | 1 | 350 | 0.0029 | 213 | c.*55 others(224): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4880 | chr19 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961226 | T | TGTTAGTA others(206): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18968.hp1 |
a0002a0007 | a0002c0002a0007c0005 | a0002c0002t0001a0007c0005t0001 | a0002c0002t0001g0252 a0007c0005t0001g0253 |
2 | 422 | 0.0047 | 213 | c.195 others(230): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961226 | T | TGTTAGTA others(206): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 422 | 0.0024 | 213 | c.195 others(230): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAA others(206): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 208 | 0.0048 | 213 | c.-10 others(234): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
OPTN_chr10_13095163_13143308 | 13115422 | A | ATATATAA others(206): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0153 | 1 | 418 | 0.0024 | 213 | c.553 others(228): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR10G3_chr14_21563520_21585076 | 21564215 | C | CCGCAGAA others(206): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01069.hp2 others(20): Show |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0005a0001c0005t0015others(1): Show | a0001c0005t0003g0164 a0001c0005t0005g0005 a0001c0005t0005g0015 others(8): Show |
23 | 442 | 0.0520 | 213 | c.*55 others(224): Show |
OR10G3 | ENSG00000169208.3 | transcript | ENST00000641040.1 | protein_coding | 4304 | chr14 | TogoVar | |||||||
OR10G3_chr14_21563520_21585076 | 21564215 | C | CCGCAGAA others(206): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0015 | 1 | 442 | 0.0023 | 213 | c.*55 others(224): Show |
OR10G3 | ENSG00000169208.3 | transcript | ENST00000641040.1 | protein_coding | 4304 | chr14 | TogoVar | |||||||
OR4F5_chr1_60419_76585 | 66249 | A | ATATATAA others(206): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0052 | 1 | 215 | 0.0047 | 213 | c.9+6 others(224): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR4F5_chr1_60419_76585 | 66249 | A | ATATATTA others(206): Show |
intron_variant | MODIFIER | HG02145.hp2 NA20752.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0054 a0003c0004t0003g0055 |
2 | 215 | 0.0093 | 213 | c.9+6 others(224): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
P2RY8_chrX_1457581_1542185 | 1468987 | T | TCCCCTCT others(206): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0012 | 1 | 114 | 0.0088 | 213 | c.-24 others(230): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(206): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0023 | a0001c0001t0009g0213 a0001c0001t0023g0207 |
2 | 308 | 0.0065 | 213 | c.226 others(232): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44019386 | A | ATTTTTGT others(206): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 332 | 0.0030 | 213 | c.-49 others(224): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4915 | chr22 | TogoVar | |||||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0258 | 1 | 268 | 0.0037 | 213 | c.242 others(234): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 272 | 0.0037 | 213 | c.242 others(234): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 1 | 270 | 0.0037 | 213 | c.242 others(234): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA4_chr5_141350021_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 | 1 | 274 | 0.0037 | 213 | c.251 others(234): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA5_chr5_141359162_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 292 | 0.0034 | 213 | c.242 others(234): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA6_chr5_141368891_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0267 | 1 | 292 | 0.0034 | 213 | c.242 others(234): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA7_chr5_141377742_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 292 | 0.0034 | 213 | c.242 others(234): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA8_chr5_141387633_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 302 | 0.0033 | 213 | c.242 others(234): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA9_chr5_141397778_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0281 | 1 | 302 | 0.0033 | 213 | c.242 others(232): Show |
PCDHGA9 | ENSG00000261934.3 | transcript | ENST00000573521.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0021 | 1 | 278 | 0.0036 | 213 | c.240 others(234): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0266 | 1 | 288 | 0.0035 | 213 | c.242 others(234): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0273 | 1 | 296 | 0.0034 | 213 | c.241 others(234): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 294 | 0.0034 | 213 | c.239 others(234): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0017 | 1 | 300 | 0.0033 | 213 | c.239 others(232): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141407491 | A | ATTTCTGT others(206): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0209 | 1 | 302 | 0.0033 | 213 | c.-71 others(222): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 529 | chr5 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(206): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 336 | 0.0030 | 213 | c.-37 others(224): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285983 | T | TCCCAACC others(206): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18959.hp2 |
a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0020 a0010c0018t0001g0054 |
2 | 436 | 0.0046 | 213 | c.111 others(230): 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(206): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 342 | 0.0029 | 213 | c.20- others(228): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977728 | A | ACCAACCC others(206): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0010 | a0010c0013 | a0010c0013t0018 | a0010c0013t0018g0210 | 1 | 408 | 0.0025 | 213 | c.215 others(232): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar |