regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO16_chr13_108624611_109213005 | 109023374 | A | ATATATTA others(338): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 |
a0002 | a0002c0009a0002c0069 | a0002c0009t0001a0002c0069t0022 | a0002c0009t0001g0039a0002c0069t0022g0073 | 2 | 152 | 0.0132 | 345 | c.279 others(364): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25792353 | T | TAAGAAGT others(338): Show |
intron_variant | MODIFIER | NA18971.hp2 NA20300.hp2 |
a0004a0045 | a0004c0087a0045c0117 | a0004c0087t0001a0045c0117t0001 | a0004c0087t0001g0052a0045c0117t0001g0156 | 2 | 228 | 0.0088 | 345 | c.237 others(364): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 11/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO7A_chr11_77123246_77220241 | 77192977 | G | GCGATGGT others(338): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0313 | 1 | 356 | 0.0028 | 345 | c.415 others(362): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | chr11 | TogoVar | ||||||
MYOZ2_chr4_119130832_119192789 | 119150496 | T | TAAAAATG others(338): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 394 | 0.0025 | 345 | c.77- others(358): Show |
MYOZ2 | ENSG00000172399.6 | transcript | ENST00000307128.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(338): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 223 | 0.0045 | 345 | c.289 others(362): 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(338): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 223 | 0.0045 | 345 | c.289 others(362): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NAV2_chr11_19707837_20126601 | 19941447 | T | TAATAAAT others(338): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0058 | a0001c0058t0009 | a0001c0058t0009g0068 | 1 | 166 | 0.0060 | 345 | c.214 others(364): Show |
NAV2 | ENSG00000166833.23 | transcript | ENST00000349880.9 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NCOA3_chr20_47496887_47661872 | 47525870 | G | GCGGCTGG others(338): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0081 | 1 | 316 | 0.0032 | 345 | c.-99 others(364): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NCOA3_chr20_47496887_47661872 | 47525870 | G | GCGGCTGG others(338): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01256.hp2 others(6): Show |
a0004a0011 | a0004c0006a0011c0019 | a0004c0006t0006a0004c0006t0025a0004c0006t0026others(1): Show | a0004c0006t0006g0082a0004c0006t0006g0083a0004c0006t0006g0085others(6): Show | 9 | 316 | 0.0285 | 345 | c.-99 others(364): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NCOA3_chr20_47496887_47661872 | 47525870 | G | GCGGCTGG others(338): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0080 | 1 | 316 | 0.0032 | 345 | c.-99 others(364): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NDRG4_chr16_58495143_58518619 | 58517773 | G | GCCGAAAA others(338): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0162 | 1 | 426 | 0.0024 | 345 | c.*61 others(356): Show |
NDRG4 | ENSG00000103034.15 | transcript | ENST00000570248.6 | protein_coding | 4155 | chr16 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807401 | G | GCAGGCCA others(338): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 319 | 0.0031 | 345 | c.-18 others(356): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1791 | chr2 | TogoVar | ||||||
NID2_chr14_51999809_52074059 | 52022188 | T | TAAGAATT others(338): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0022 | a0022c0068 | a0022c0068t0001 | a0022c0068t0001g0337 | 1 | 372 | 0.0027 | 345 | c.267 others(364): Show |
NID2 | ENSG00000087303.19 | transcript | ENST00000216286.10 | protein_coding | 12/21 | chr14 | TogoVar | ||||||
NMRK2_chr19_3928069_3947416 | 3945041 | T | TAAAAAAA others(338): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 404 | 0.0025 | 345 | c.*27 others(356): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 2626 | chr19 | TogoVar | ||||||
NSG1_chr4_4382102_4424058 | 4422819 | T | TGAGTGAA others(338): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 394 | 0.0025 | 345 | c.*53 others(356): Show |
NSG1 | ENSG00000168824.15 | transcript | ENST00000621129.5 | protein_coding | 3762 | chr4 | TogoVar | ||||||
NUFIP1_chr13_44934249_44994471 | 44954009 | T | TAAAAAGA others(338): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056a0001c0003t0001g0057 | 2 | 316 | 0.0063 | 345 | c.102 others(364): Show |
NUFIP1 | ENSG00000083635.8 | transcript | ENST00000379161.5 | protein_coding | 7/9 | chr13 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841663 | C | CGGCGAGC others(338): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 242 | 0.0041 | 345 | c.361 others(364): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OOSP4B_chr11_60012181_60036095 | 60028666 | T | TCTTTCTG others(338): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 396 | 0.0025 | 345 | c.303 others(362): Show |
OOSP4B | ENSG00000255393.3 | transcript | ENST00000642343.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64094874 | G | GGTGTGGG others(338): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0016a0001c0001t0012g0017 | 2 | 66 | 0.0303 | 345 | c.233 others(362): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OR2A4_chr6_131694644_131706401 | 131694954 | T | TTGGCTAA others(338): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 1 | 379 | 0.0026 | 345 | c.*55 others(356): Show |
OR2A4 | ENSG00000180658.4 | transcript | ENST00000315453.4 | protein_coding | 4689 | chr6 | TogoVar | ||||||
OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(338): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02896.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0016 | 4 | 438 | 0.0091 | 345 | c.-29 others(360): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
ORC1_chr1_52367829_52409423 | 52389487 | T | TAAAAAGT others(338): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 304 | 0.0033 | 345 | c.108 others(362): Show |
ORC1 | ENSG00000085840.13 | transcript | ENST00000371568.8 | protein_coding | 6/16 | chr1 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178359490 | A | ACAGAGAT others(338): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0086 | a0001c0004t0086g0092 | 1 | 200 | 0.0050 | 345 | c.115 others(364): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PACS1_chr11_66065272_66249744 | 66240777 | T | TTAATCTT others(338): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 322 | 0.0031 | 345 | c.243 others(362): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PCDHGA1_chr5_141325514_141517975 | 141333382 | T | TAGAAACG others(338): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01993.hp2 HG02273.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0009a0001c0007t0007 | a0001c0002t0009g0233a0001c0007t0007g0229a0001c0007t0007g0230others(2): Show | 5 | 268 | 0.0187 | 345 | c.242 others(362): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20572245 | T | TAAAAATA others(338): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0004 | a0002c0004t0134 | a0002c0004t0134g0084 | 1 | 198 | 0.0051 | 345 | c.101 others(366): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN3_chr3_73377431_73629941 | 73472034 | G | GCTGATTT others(338): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0211 | 1 | 216 | 0.0046 | 345 | c.919 others(364): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41429793 | T | TCTTATTT others(338): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0048 | 1 | 206 | 0.0049 | 345 | c.844 others(364): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41429793 | T | TCTTATTT others(338): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19007.hp2 |
a0003 | a0003c0005a0003c0006 | a0003c0005t0001a0003c0006t0001 | a0003c0005t0001g0074a0003c0006t0001g0096 | 2 | 206 | 0.0097 | 345 | c.844 others(364): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PERM1_chr1_970198_987093 | 977751 | A | ACTCCCCC others(338): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 408 | 0.0025 | 345 | c.215 others(364): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179917039 | A | AAAAAATA others(338): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0133 | 1 | 220 | 0.0046 | 345 | c.94- others(362): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585208 | T | TGCCCTTT others(338): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0016 | a0016c0020 | a0016c0020t0009 | a0016c0020t0009g0249 | 1 | 279 | 0.0036 | 345 | c.215 others(362): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKHD1_chr6_51610299_52092613 | 51989901 | G | GAGGAAGG others(338): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0036 | a0036c0074 | a0036c0074t0003 | a0036c0074t0003g0108 | 1 | 134 | 0.0075 | 345 | c.575 others(366): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51989901 | G | GAGGAAGG others(338): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0004 | a0004c0064 | a0004c0064t0003 | a0004c0064t0003g0053 | 1 | 134 | 0.0075 | 345 | c.575 others(366): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51989903 | G | GGAAGGAA others(338): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0043 | a0043c0063 | a0043c0063t0005 | a0043c0063t0005g0066 | 1 | 134 | 0.0075 | 345 | c.575 others(366): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51989903 | G | GGAAGGAA others(338): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 |
a0008a0009 | a0008c0018a0009c0056 | a0008c0018t0020a0009c0056t0001 | a0008c0018t0020g0074a0009c0056t0001g0073 | 2 | 134 | 0.0149 | 345 | c.575 others(366): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401882 | C | CGCTCACC others(338): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 216 | 0.0046 | 345 | c.173 others(364): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204269327 | C | CAGAAACC others(338): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0005 | a0003c0005t0013 | a0003c0005t0013g0054 | 1 | 270 | 0.0037 | 345 | c.103 others(362): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 3/22 | chr1 | TogoVar | ||||||
PLEKHM3_chr2_207816288_208030527 | 208023306 | C | CCCCATCT others(338): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0121 | 1 | 200 | 0.0050 | 345 | c.-31 others(364): Show |
PLEKHM3 | ENSG00000178385.15 | transcript | ENST00000427836.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 976810 | G | GCAACCCC others(338): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 422 | 0.0024 | 345 | c.*22 others(356): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 946 | chr1 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55433460 | T | TTCAGTAA others(338): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 294 | 0.0034 | 345 | c.550 others(362): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 4/5 | chr5 | TogoVar | ||||||
PNMA8C_chr19_46419697_46433936 | 46433052 | T | TTGAAATG others(338): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0000 | 1 | 442 | 0.0023 | 345 | c.-46 others(356): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 4117 | chr19 | TogoVar | ||||||
PPP1R7_chr2_241145467_241188652 | 241166087 | A | AGAGATGG others(338): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 396 | 0.0025 | 345 | c.715 others(360): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP2R2D_chr10_131896008_131964834 | 131949712 | G | GGAACATC others(338): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00673.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0013others(10): Show | a0001c0001t0004g0003a0001c0001t0004g0138a0001c0001t0004g0140others(32): Show | 38 | 394 | 0.0965 | 345 | c.108 others(364): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151855396 | C | CCTCCACA others(338): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028a0001c0001t0002g0068 | 2 | 252 | 0.0079 | 345 | c.114 others(364): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PRKCQ_chr10_6422148_6585276 | 6437486 | T | TCTGTGAT others(338): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0132 | 1 | 252 | 0.0040 | 345 | c.183 others(364): Show |
PRKCQ | ENSG00000065675.16 | transcript | ENST00000263125.10 | protein_coding | 16/17 | chr10 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122695 | G | GTCACAGC others(338): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205a0001c0002t0001g0211 | 2 | 286 | 0.0070 | 345 | c.335 others(364): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRSS33_chr16_2778953_2792560 | 2787264 | C | CTCACCCC others(338): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 386 | 0.0026 | 345 | c.-58 others(360): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
PRSS33_chr16_2778953_2792560 | 2787277 | T | TCATCCTT others(338): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 386 | 0.0026 | 345 | c.-58 others(360): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
PTER_chr10_16432010_16518745 | 16506037 | T | TGAGAGAT others(338): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01934.hp1 NA18949.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0355a0001c0001t0001g0359a0001c0001t0002g0348others(9): Show | 12 | 378 | 0.0318 | 345 | c.839 others(360): Show |
PTER | ENSG00000165983.15 | transcript | ENST00000535784.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |