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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF21B_chr22_44876162_45015005 | 44884022 | A | ACCACCAT others(179): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG02109.hp1 others(5): Show |
a0001a0009 | a0001c0002a0009c0016 | a0001c0002t0009a0001c0002t0014a0001c0002t0027others(3): Show | a0001c0002t0009g0014 a0001c0002t0009g0016 a0001c0002t0009g0022 others(5): Show |
8 | 300 | 0.0267 | 186 | c.137 others(203): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10782366 | A | AATAATTA others(179): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0019 | a0019c0030 | a0019c0030t0003 | a0019c0030t0003g0025 | 1 | 158 | 0.0063 | 186 | c.249 others(205): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 17/55 | chr18 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17193868 | A | AGGAGGGG others(179): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19090.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0002a0004c0007t0002 | a0001c0001t0002g0070 a0004c0007t0002g0129 |
2 | 342 | 0.0059 | 186 | c.-66 others(205): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCTCCC others(179): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0043 | a0043c0072 | a0043c0072t0001 | a0043c0072t0001g0095 | 1 | 134 | 0.0075 | 186 | c.575 others(207): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981310 | G | GCTCTCCC others(179): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0061 | a0001c0061t0001 | a0001c0061t0001g0064 | 1 | 134 | 0.0075 | 186 | c.575 others(207): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402283 | A | ACCCCCGA others(179): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0214 | 1 | 216 | 0.0046 | 186 | c.173 others(203): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186857071 | C | CTTTTAAC others(179): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 |
2 | 310 | 0.0065 | 186 | c.33+ others(201): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 2/17 | chr1 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 290886 | C | CGGGCGCT others(179): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 |
a0001 | a0001c0003 | a0001c0003t0055a0001c0003t0089 | a0001c0003t0055g0010 a0001c0003t0089g0011 |
2 | 176 | 0.0114 | 186 | c.393 others(201): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLEKHA2_chr8_38896346_38978912 | 38918553 | C | CACACAAA others(179): Show |
intron_variant | MODIFIER | HG01978.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0028 | a0001c0001t0005g0350 a0001c0001t0028g0154 |
2 | 376 | 0.0053 | 186 | c.141 others(201): Show |
PLEKHA2 | ENSG00000169499.15 | transcript | ENST00000617275.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977380 | C | CAACCCCG others(179): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 186 | c.*28 others(197): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1516 | chr1 | TogoVar | |||||||
PLPPR1_chr9_101023727_101330135 | 101078181 | A | AGGGGGAG others(179): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 203 | 0.0049 | 186 | c.-46 others(205): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PLXNA4_chr7_132118340_132581470 | 132188997 | A | AGGAAAGG others(179): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0025 | a0001c0025t0004 | a0001c0025t0004g0043 | 1 | 88 | 0.0114 | 186 | c.285 others(205): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PPP1R12C_chr19_55085918_55122637 | 55096807 | A | ACCCCTTC others(179): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 390 | 0.0026 | 186 | c.952 others(201): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
PPP4R3A_chr14_91452508_91515310 | 91507340 | T | TATTATAT others(179): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 370 | 0.0027 | 186 | c.142 others(203): Show |
PPP4R3A | ENSG00000100796.18 | transcript | ENST00000554943.6 | protein_coding | 1/14 | chr14 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41813954 | G | GCAGGGTG others(179): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0029 | a0001c0029t0041 | a0001c0029t0041g0368 | 1 | 406 | 0.0025 | 186 | c.239 others(205): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 19/23 | chr21 | TogoVar | |||||||
PRIMPOL_chr4_184644738_184699952 | 184676531 | T | TTCCCTTC others(179): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0033 others(10): Show |
14 | 328 | 0.0427 | 186 | c.845 others(203): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151874177 | T | TATGTATA others(179): Show |
intron_variant | MODIFIER | HG02083.hp1 NA19000.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0114 a0001c0003t0003g0109 |
2 | 252 | 0.0079 | 186 | c.114 others(203): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161350586 | A | AATATATT others(179): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0004 | 1 | 32 | 0.0313 | 186 | c.128 others(203): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | |||||||
PTK6_chr20_63523001_63542376 | 63536002 | T | TCCTCACC others(179): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0253 | 1 | 344 | 0.0029 | 186 | c.231 others(201): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61885680 | T | TCCACTCC others(179): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG03471.hp2 |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0007 | a0001c0001t0001a0004c0006t0002a0006c0007t0004 | a0001c0001t0001g0009 a0004c0006t0002g0094 a0006c0007t0004g0060 |
3 | 94 | 0.0319 | 186 | c.191 others(207): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRM_chr18_7562316_8411856 | 7985342 | C | CGTATATA others(179): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0020t0001 | a0001c0001t0002g0004 a0001c0020t0001g0061 |
2 | 80 | 0.0250 | 186 | c.113 others(207): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | chr18 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42958331 | G | GAGAGGGA others(179): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00738.hp1 others(1): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0003a0002c0001t0010a0002c0004t0002others(1): Show | a0002c0001t0003g0008 a0002c0001t0010g0024 a0002c0004t0002g0007 others(1): Show |
4 | 62 | 0.0645 | 186 | c.89- others(203): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1720717 | C | CTGCATCT others(179): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 322 | 0.0031 | 186 | c.200 others(205): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 481892 | C | CGGTGCCA others(179): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 295 | 0.0034 | 186 | c.904 others(201): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 481892 | C | CGGTGCCA others(179): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(50): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0078 others(50): Show |
53 | 295 | 0.1797 | 186 | c.904 others(201): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 482088 | G | GCACCTGG others(179): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 295 | 0.0034 | 186 | c.904 others(201): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504269 | T | TCCTCCTG others(179): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 295 | 0.0034 | 186 | c.139 others(205): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4802584 | A | AGCTGGGG others(179): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02155.hp2 NA19091.hp1 |
a0001a0002a0043 | a0001c0001a0002c0002a0043c0050 | a0001c0001t0001a0002c0002t0001a0043c0050t0001 | a0001c0001t0001g0287 a0002c0002t0001g0195 a0043c0050t0001g0286 |
3 | 292 | 0.0103 | 186 | c.250 others(203): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
RAI14_chr5_34651328_34837612 | 34665009 | A | ATATATGT others(179): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 254 | 0.0039 | 186 | c.-49 others(203): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6450843 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 68 | 0.0147 | 186 | c.-64 others(207): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341502 | G | GGGCAGAG others(179): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 |
3 | 312 | 0.0096 | 186 | c.188 others(205): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RHBDL3_chr17_32260832_32329659 | 32318458 | G | GAAACCCT others(179): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(145): Show |
155 | 306 | 0.5065 | 186 | c.943 others(203): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHBDL3_chr17_32260832_32329659 | 32318458 | G | GAAACCCT others(179): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0044 a0001c0001t0006g0268 a0001c0001t0006g0269 others(2): Show |
5 | 306 | 0.0163 | 186 | c.943 others(203): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RHBDL3_chr17_32260832_32329659 | 32318458 | G | GAAACCCT others(179): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02135.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0045 others(19): Show |
22 | 306 | 0.0719 | 186 | c.943 others(203): Show |
RHBDL3 | ENSG00000141314.13 | transcript | ENST00000269051.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130482701 | C | CATTCTGC others(179): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0017 | a0017c0052 | a0017c0052t0003 | a0017c0052t0003g0093 | 1 | 180 | 0.0056 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483053 | C | CTGTGTGT others(179): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0018 | a0018c0048 | a0018c0048t0001 | a0018c0048t0001g0013 | 1 | 180 | 0.0056 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483259 | G | GATTCTGC others(179): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0019 | a0001c0002t0001a0001c0019t0001 | a0001c0002t0001g0054 a0001c0019t0001g0089 |
2 | 180 | 0.0111 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAG others(179): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 180 | 0.0056 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAG others(179): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(33): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0080 others(33): Show |
36 | 180 | 0.2000 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAG others(179): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0131 | 1 | 180 | 0.0056 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130483273 | G | GGGGGCAG others(179): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 180 | 0.0056 | 186 | c.-3- others(201): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 4/22 | chr12 | TogoVar | |||||||
RIPK4_chr21_41734373_41772052 | 41736056 | C | CTTCTTCT others(179): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0081 | 1 | 448 | 0.0022 | 186 | c.*47 others(197): Show |
RIPK4 | ENSG00000183421.12 | transcript | ENST00000332512.8 | protein_coding | 3316 | chr21 | TogoVar | |||||||
RIPOR2_chr6_24799284_24940960 | 24927054 | C | CCAGCACC others(179): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19054.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0003 | a0001c0003t0002g0038 a0002c0002t0003g0063 |
2 | 328 | 0.0061 | 186 | c.61+ others(201): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
RIPOR2_chr6_24799284_24940960 | 24927182 | T | TCACCACC others(179): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01891.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0021 a0001c0001t0004g0008 a0001c0001t0008g0303 others(4): Show |
7 | 328 | 0.0213 | 186 | c.61+ others(201): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
RIPOR2_chr6_24799284_24940960 | 24927185 | C | CCACCACC others(179): Show |
intron_variant | MODIFIER | HG02895.hp1 NA21309.hp2 |
a0009a0022 | a0009c0016a0022c0033 | a0009c0016t0017a0022c0033t0008 | a0009c0016t0017g0015 a0022c0033t0008g0016 |
2 | 328 | 0.0061 | 186 | c.61+ others(201): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20505260 | T | TTCTCCCT others(179): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0024 | a0001c0001t0011g0066 a0001c0001t0024g0075 |
2 | 396 | 0.0051 | 186 | c.-76 others(195): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 276 | chr14 | TogoVar | |||||||
RNASE10_chr14_20500537_20518884 | 20505261 | G | GCTCCCTC others(179): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0057 | a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0155 others(4): Show |
7 | 396 | 0.0177 | 186 | c.-76 others(195): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 275 | chr14 | TogoVar | |||||||
RNF169_chr11_74743849_74847413 | 74785211 | A | ATATATAT others(179): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0161 | 1 | 354 | 0.0028 | 186 | c.503 others(203): Show |
RNF169 | ENSG00000166439.6 | transcript | ENST00000299563.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RNF182_chr6_13919952_13985310 | 13925069 | G | GGGCGGGG others(179): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0011 a0001c0001t0002g0060 a0001c0001t0002g0062 others(3): Show |
7 | 356 | 0.0197 | 186 | c.-36 others(201): Show |
RNF182 | ENSG00000180537.13 | transcript | ENST00000488300.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80314994 | G | GTGGTGGT others(179): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0081 | a0081c0066 | a0081c0066t0040 | a0081c0066t0040g0030 | 1 | 292 | 0.0034 | 186 | c.281 others(205): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |