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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(197): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 NA19066.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 342 | 0.0088 | 204 | c.-23 others(215): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(197): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0000 | 1 | 340 | 0.0029 | 204 | c.-23 others(215): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
OR52E6_chr11_5835928_5846897 | 5844253 | T | TTATATTA others(197): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA18955.hp2 NA18997.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0000 | 3 | 342 | 0.0088 | 204 | c.-23 others(215): Show |
OR52E6 | ENSG00000205409.3 | transcript | ENST00000329322.5 | protein_coding | 2357 | chr11 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GGAGAGAC others(197): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04184.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0136 a0002c0003t0001g0137 |
2 | 3 | 0.6667 | 204 | c.537 others(223): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205380577 | A | ATATATAT others(197): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 23 | 0.0435 | 204 | c.263 others(225): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARVG_chr22_44175925_44213469 | 44198953 | T | TCCATCCA others(197): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 a0001c0001t0004g0155 |
2 | 358 | 0.0056 | 204 | c.813 others(219): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0238 | 1 | 244 | 0.0041 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 248 | 0.0040 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0269 | 1 | 246 | 0.0041 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0247 | 1 | 250 | 0.0040 | 204 | c.251 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 268 | 0.0037 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 268 | 0.0037 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 268 | 0.0037 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 278 | 0.0036 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0276 | 1 | 278 | 0.0036 | 204 | c.242 others(223): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 | 1 | 255 | 0.0039 | 204 | c.240 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0276 | 1 | 264 | 0.0038 | 204 | c.242 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0291 | 1 | 272 | 0.0037 | 204 | c.241 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 271 | 0.0037 | 204 | c.239 others(225): 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(197): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 276 | 0.0036 | 204 | c.239 others(223): 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(197): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0140 | 1 | 278 | 0.0036 | 204 | c.-71 others(213): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 529 | chr5 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842829 | T | TATAGATG others(197): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 359 | 0.0028 | 204 | c.-26 others(215): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2175 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(197): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 182 | 0.0055 | 204 | c.-26 others(215): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(197): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 322 | 0.0062 | 204 | c.-26 others(215): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46384085 | G | GTGTTGTG others(197): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03654.hp2 |
a0002a0018 | a0002c0002a0018c0031 | a0002c0002t0001a0018c0031t0001 | a0002c0002t0001g0064 a0018c0031t0001g0065 |
2 | 330 | 0.0061 | 204 | c.331 others(223): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17449526 | G | GTGTATAT others(197): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0132 | 1 | 90 | 0.0111 | 204 | c.886 others(221): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741407 | G | GGGGGGCT others(197): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0081 | 1 | 292 | 0.0034 | 204 | c.143 others(219): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132727539 | C | CGCTCCGG others(197): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0047 | 1 | 131 | 0.0076 | 204 | c.*67 others(215): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 4806 | chr12 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(197): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18959.hp2 |
a0001 | a0001c0001a0001c0030 | a0001c0001t0002a0001c0030t0003 | a0001c0001t0002g0138 a0001c0030t0003g0043 |
2 | 16 | 0.1250 | 204 | c.122 others(219): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | |||||||
PGGHG_chr11_284126_301107 | 294512 | A | ACCCCAGG others(197): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0056 | 1 | 186 | 0.0054 | 204 | c.202 others(219): Show |
PGGHG | ENSG00000142102.16 | transcript | ENST00000409548.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4036040 | A | ACACACAC others(197): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0151 a0001c0001t0021g0094 |
2 | 332 | 0.0060 | 204 | c.114 others(223): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78524024 | T | TTATATAT others(197): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 118 | 0.0085 | 204 | c.-15 others(223): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36275948 | T | TTTTCTTT others(197): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0373 | 1 | 366 | 0.0027 | 204 | c.205 others(221): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
POLB_chr8_42333494_42376808 | 42347249 | G | GGAATTAC others(197): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(32): Show |
38 | 96 | 0.3958 | 204 | c.187 others(221): Show |
POLB | ENSG00000070501.12 | transcript | ENST00000265421.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131916723 | A | AGGTGGAA others(197): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0245 |
2 | 391 | 0.0051 | 204 | c.100 others(223): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101782627 | C | CCCCTTCC others(197): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0011 | 1 | 133 | 0.0075 | 204 | c.94- others(219): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101918477 | G | GCCCCCCA others(197): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03834.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0019a0001c0003t0002 | a0001c0001t0002g0028 a0001c0001t0019g0116 a0001c0003t0002g0079 others(1): Show |
4 | 90 | 0.0444 | 204 | c.160 others(221): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP2R5C_chr14_101756709_101932977 | 101918477 | G | GCCCCCCA others(197): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080 |
3 | 89 | 0.0337 | 204 | c.160 others(221): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151821039 | C | CAGCCAGA others(197): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03098.hp1 HG03491.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0001others(2): Show | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0004g0213 others(3): Show |
6 | 84 | 0.0714 | 204 | c.115 others(223): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCA_chr17_66297613_66815743 | 66798647 | G | GTGGTGAT others(197): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0169 | 1 | 156 | 0.0064 | 204 | c.185 others(223): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133833 | C | CTCTCTCC others(197): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 216 | 0.0046 | 204 | c.*24 others(215): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2121 | chr19 | TogoVar | |||||||
PRSS57_chr19_680546_700452 | 689222 | G | GGGGCTGG others(197): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0054 | 1 | 327 | 0.0031 | 204 | c.379 others(221): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
PSME3_chr17_42828397_42848760 | 42848524 | A | AATATATA others(197): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 232 | 0.0043 | 204 | c.*69 others(215): Show |
PSME3 | ENSG00000131467.12 | transcript | ENST00000590720.6 | protein_coding | 4765 | chr17 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141429889 | A | AGGTGGCG others(197): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0058 | 1 | 170 | 0.0059 | 204 | c.405 others(221): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141429917 | T | TCCGGGTC others(197): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0269 | 1 | 313 | 0.0032 | 204 | c.405 others(219): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTP4A3_chr8_141387021_141437454 | 141429917 | T | TCCGGGTC others(197): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 313 | 0.0032 | 204 | c.405 others(219): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392570 | A | ATGGTGAT others(197): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 328 | 0.0030 | 204 | c.-46 others(215): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4629 | chr10 | TogoVar | |||||||
PYHIN1_chr1_158926552_158982059 | 158939943 | T | TGAAAACC others(197): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 396 | 0.0025 | 204 | c.579 others(219): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB27A_chr15_55197966_55294813 | 55209869 | T | TATGCGTA others(197): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 a0001c0001t0002g0233 a0001c0001t0002g0234 others(2): Show |
5 | 224 | 0.0223 | 204 | c.468 others(221): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(197): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0058 | 1 | 13 | 0.0769 | 204 | c.*13 others(217): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar |