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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIGQ_chr16_564968_589109 | 571074 | T | TGTCTGGC others(88): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0317 |
4 | 408 | 0.0098 | 95 | c.-10 others(110): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(88): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0003 | a0002c0003t0066 | a0002c0003t0066g0209 | 1 | 210 | 0.0048 | 95 | c.45+ others(106): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977572 | C | CCAACCCC others(88): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0051 | 1 | 422 | 0.0024 | 95 | c.*29 others(106): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1708 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977635 | A | GCCAACCC others(88): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 422 | 0.0024 | 95 | c.*30 others(106): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1770 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977809 | A | ACTCCCCC others(88): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA18961.hp2 NA18995.hp2 |
a0001a0004 | a0001c0001a0004c0028 | a0001c0001t0001a0004c0028t0001 | a0001c0001t0001g0001 a0004c0028t0001g0129 |
3 | 422 | 0.0071 | 95 | c.*32 others(106): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1945 | chr1 | TogoVar | |||||||
PLPP3_chr1_56489761_56584563 | 56551311 | G | GTTTGGTT others(88): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0204 |
2 | 336 | 0.0060 | 95 | c.140 others(114): Show |
PLPP3 | ENSG00000162407.9 | transcript | ENST00000371250.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50274636 | T | TCAGCACC others(88): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0016 | a0002c0016t0004 | a0002c0016t0004g0124 | 1 | 302 | 0.0033 | 95 | c.*10 others(106): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 342 | chr22 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 38993583 | A | ACACTGAT others(88): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03139.hp2 HG03540.hp2 |
a0001a0003 | a0001c0002a0003c0009 | a0001c0002t0002a0003c0009t0017a0003c0009t0018 | a0001c0002t0002g0028 a0003c0009t0017g0046 a0003c0009t0018g0045 |
3 | 170 | 0.0177 | 95 | c.105 others(114): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 38993613 | C | CACACACA others(88): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 170 | 0.0059 | 95 | c.105 others(114): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206855 | A | AGGAGGGG others(88): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 408 | 0.0025 | 95 | c.726 others(110): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167989 | T | TCTTTCTC others(88): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02717.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0023 a0001c0001t0003g0005 a0001c0001t0006g0003 others(4): Show |
7 | 312 | 0.0224 | 95 | c.306 others(114): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6336839 | C | CCCTCCTT others(88): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 298 | 0.0034 | 95 | c.791 others(112): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101106461 | A | AAAGAAAG others(88): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 192 | 0.0052 | 95 | c.384 others(112): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0141 | 1 | 360 | 0.0028 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 360 | 0.0028 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03041.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0024 | a0001c0001t0004g0138 a0001c0001t0008g0150 a0001c0001t0024g0173 |
3 | 360 | 0.0083 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0127 | 1 | 360 | 0.0028 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | HG02145.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0155 a0001c0001t0008g0152 |
2 | 360 | 0.0056 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0056 | a0001c0001t0026g0184 a0001c0001t0056g0185 |
2 | 360 | 0.0056 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(88): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024 | a0001c0001t0008g0103 a0001c0001t0024g0177 |
2 | 360 | 0.0056 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTTGTT others(88): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03130.hp2 HG03486.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0007a0005c0006t0026 | a0001c0001t0007g0182 a0001c0001t0007g0188 a0005c0006t0026g0175 |
3 | 360 | 0.0083 | 95 | c.116 others(114): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3287611 | T | TGCGGGCA others(88): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG02976.hp2 |
a0001a0002 | a0001c0004a0001c0008a0002c0003 | a0001c0004t0055a0001c0008t0001a0002c0003t0029 | a0001c0004t0055g0004 a0001c0008t0001g0005 a0002c0003t0029g0106 |
3 | 210 | 0.0143 | 95 | c.438 others(114): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93722773 | A | ATGATGGT others(88): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 397 | 0.0025 | 95 | c.360 others(112): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
PRIMPOL_chr4_184644738_184699952 | 184676528 | C | CTTCTCCC others(88): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01952.hp1 HG01993.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0126 others(11): Show |
14 | 328 | 0.0427 | 95 | c.845 others(112): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855389 | A | ACACCGCC others(88): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 252 | 0.0040 | 95 | c.114 others(114): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2110021 | T | TCGGGGCC others(88): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18942.hp2 NA18945.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 others(3): Show |
6 | 286 | 0.0210 | 95 | c.335 others(114): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162010693 | T | TATTATAT others(88): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0006 | 1 | 32 | 0.0313 | 95 | c.619 others(114): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154227 | G | GGCGGGGC others(88): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 378 | 0.0027 | 95 | c.-44 others(106): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4420 | chr13 | TogoVar | |||||||
PRPF40A_chr2_152646732_152722461 | 152720034 | G | GTCAGTCT others(88): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(267): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(247): Show |
270 | 372 | 0.7258 | 95 | c.-25 others(106): Show |
PRPF40A | ENSG00000196504.21 | transcript | ENST00000545856.8 | protein_coding | 2574 | chr2 | TogoVar | |||||||
PRSS33_chr16_2778953_2792560 | 2787264 | C | CTCACCCC others(88): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0099 a0001c0001t0002g0064 a0002c0002t0001g0007 others(10): Show |
39 | 386 | 0.1010 | 95 | c.-58 others(110): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
PSME4_chr2_53859069_53975993 | 53940940 | A | AATATATA others(88): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0076 | 1 | 384 | 0.0026 | 95 | c.501 others(110): Show |
PSME4 | ENSG00000068878.15 | transcript | ENST00000404125.6 | protein_coding | 3/46 | chr2 | TogoVar | |||||||
PSPH_chr7_56006064_56056444 | 56013063 | G | GTATATAT others(88): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01943.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 others(16): Show |
19 | 392 | 0.0485 | 95 | c.571 others(112): Show |
PSPH | ENSG00000146733.14 | transcript | ENST00000275605.8 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75530550 | A | ATATAATA others(88): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0286 | 1 | 326 | 0.0031 | 95 | c.64- others(110): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8344960 | T | TAACATTC others(88): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01243.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0024a0001c0002t0011a0001c0004t0003others(5): Show | a0001c0001t0024g0032 a0001c0002t0011g0030 a0001c0004t0003g0001 others(5): Show |
8 | 34 | 0.2353 | 95 | c.466 others(114): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 39/45 | chr9 | TogoVar | |||||||
PTPRZ1_chr7_121868161_122067036 | 122050444 | A | AGAGGGGA others(88): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18953.hp1 |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0001a0004c0008t0003 | a0002c0002t0001g0232 a0004c0008t0003g0205 |
2 | 312 | 0.0064 | 95 | c.608 others(112): Show |
PTPRZ1 | ENSG00000106278.12 | transcript | ENST00000393386.7 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1719967 | G | GGAGGGAG others(88): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01981.hp2 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0002g0176 others(2): Show |
5 | 322 | 0.0155 | 95 | c.200 others(114): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132694017 | A | AGCCAGTT others(88): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 350 | 0.0029 | 95 | c.237 others(112): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347196 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0278 | 1 | 442 | 0.0023 | 95 | c.120 others(112): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504055 | C | CCTCCTTG others(88): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG01516.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0251 others(5): Show |
8 | 295 | 0.0271 | 95 | c.139 others(112): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 504129 | C | CTTGCCTC others(88): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 295 | 0.0034 | 95 | c.139 others(114): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 504258 | A | ACCCCCTC others(88): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02738.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0076 a0001c0001t0008g0071 a0001c0001t0008g0077 |
3 | 295 | 0.0102 | 95 | c.139 others(114): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 524741 | T | TCCTGCCT others(88): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 295 | 0.0034 | 95 | c.*39 others(106): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1731 | chr16 | TogoVar | |||||||
RAB20_chr13_110518066_110566722 | 110530184 | A | ACAGACAC others(88): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0022 a0001c0001t0003g0021 a0001c0001t0003g0086 others(18): Show |
21 | 426 | 0.0493 | 95 | c.173 others(112): Show |
RAB20 | ENSG00000139832.5 | transcript | ENST00000267328.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
RAD52_chr12_906736_954694 | 952995 | A | AGGGGGAA others(88): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0046 | a0001c0001t0005g0185 a0001c0001t0006g0183 a0001c0001t0046g0184 |
3 | 400 | 0.0075 | 95 | c.-34 others(106): Show |
RAD52 | ENSG00000002016.18 | transcript | ENST00000358495.8 | protein_coding | 3302 | chr12 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(88): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 a0001c0001t0004g0042 |
2 | 342 | 0.0059 | 95 | c.-57 others(104): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350863 | G | GCGGGGGG others(88): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0008 | 1 | 342 | 0.0029 | 95 | c.-56 others(104): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 391 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350881 | G | GGGGGGCG others(88): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 342 | 0.0029 | 95 | c.-54 others(104): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 373 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350917 | G | GGGACGGG others(88): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0121 | 1 | 342 | 0.0029 | 95 | c.-51 others(104): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 337 | chr20 | TogoVar | |||||||
RALGPS1_chr9_126909782_127228166 | 127182435 | T | TTCCTTCT others(88): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0131 | 1 | 276 | 0.0036 | 95 | c.910 others(112): Show |
RALGPS1 | ENSG00000136828.19 | transcript | ENST00000259351.10 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RBBP6_chr16_24534566_24577863 | 24575890 | G | GGGGAGGG others(88): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 336 | 0.0030 | 95 | c.*34 others(106): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 3028 | chr16 | TogoVar |