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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKNOX2_chr11_125159751_125438389 | 125222640 | T | TGTGTGTG others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0173 | 1 | 222 | 0.0045 | 36 | c.-20 others(57): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125248897 | A | ATATATAA others(29): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0126a0001c0001t0006g0131 | 2 | 222 | 0.0090 | 36 | c.-13 others(57): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201316121 | T | TGGACGGA others(29): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 334 | 0.0030 | 36 | c.702 others(51): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201316125 | C | CGGACGGA others(29): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004others(1): Show | a0001c0001t0043a0001c0001t0050a0001c0009t0015others(13): Show | a0001c0001t0043g0114a0001c0001t0050g0103a0001c0009t0015g0029others(25): Show | 35 | 334 | 0.1048 | 36 | c.702 others(51): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PKP1_chr1_201278506_201337989 | 201316143 | G | GATGGATG others(29): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 334 | 0.0030 | 36 | c.702 others(51): Show |
PKP1 | ENSG00000081277.13 | transcript | ENST00000367324.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLA2G4A_chr1_186823949_186993981 | 186967401 | G | GCTACAGA others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01256.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243a0001c0001t0002g0101a0001c0001t0002g0103others(7): Show | 10 | 310 | 0.0323 | 36 | c.176 others(55): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLA2G4C_chr19_48042846_48115817 | 48097768 | T | TTTTGTTT others(29): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0104 | 1 | 322 | 0.0031 | 36 | c.568 others(51): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 6/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105929 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0036 | 1 | 322 | 0.0031 | 36 | c.9-4 others(47): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105933 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 322 | 0.0031 | 36 | c.9-4 others(47): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105939 | C | CTTCTTTC others(29): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18997.hp2 |
a0001a0013 | a0001c0001a0013c0050 | a0001c0001t0001a0013c0050t0002 | a0001c0001t0001g0111a0013c0050t0002g0197 | 2 | 322 | 0.0062 | 36 | c.9-4 others(47): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105941 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02027.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0051a0002c0004t0001g0050 | 2 | 322 | 0.0062 | 36 | c.9-4 others(47): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105943 | C | CTTCTTTC others(29): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 322 | 0.0031 | 36 | c.9-5 others(47): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105945 | C | CCTTTCTT others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 NA18977.hp2 |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0019 | a0001c0001t0001a0002c0005t0001a0003c0019t0004 | a0001c0001t0001g0064a0002c0005t0001g0027a0003c0019t0004g0063 | 3 | 322 | 0.0093 | 36 | c.9-5 others(47): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | ||||||
PLAAT5_chr11_63456404_63496167 | 63483814 | T | TATACACA others(29): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02055.hp1 HG02895.hp1 others(6): Show |
a0002a0004a0007 | a0002c0002a0002c0004a0004c0015others(1): Show | a0002c0002t0001a0002c0004t0001a0004c0015t0012others(1): Show | a0002c0002t0001g0030a0002c0002t0001g0264a0002c0002t0001g0265others(4): Show | 9 | 358 | 0.0251 | 36 | c.345 others(53): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
PLAC8_chr4_83085048_83119729 | 83113201 | A | AAAAAAGA others(29): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 408 | 0.0025 | 36 | c.-30 others(53): Show |
PLAC8 | ENSG00000145287.11 | transcript | ENST00000311507.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0328 | 1 | 378 | 0.0027 | 36 | c.-27 others(53): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0315 | 1 | 378 | 0.0027 | 36 | c.-27 others(53): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
PLAT_chr8_42169718_42212565 | 42203992 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0325 | 1 | 378 | 0.0027 | 36 | c.-27 others(53): Show |
PLAT | ENSG00000104368.19 | transcript | ENST00000220809.9 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
PLAUR_chr19_43643579_43675169 | 43662980 | T | TGGGGGGG others(29): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0358 | 1 | 442 | 0.0023 | 36 | c.310 others(53): Show |
PLAUR | ENSG00000011422.12 | transcript | ENST00000340093.8 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8278257 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01074.hp2 others(36): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0015a0001c0001t0002g0011a0001c0001t0002g0078others(36): Show | 39 | 106 | 0.3679 | 36 | c.178 others(55): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8358111 | T | TTATTTCT others(29): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01346.hp1 HG01884.hp2 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(8): Show | a0001c0001t0001g0063a0001c0001t0011g0030a0001c0002t0001g0031others(9): Show | 12 | 106 | 0.1132 | 36 | c.178 others(55): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8523490 | C | CCATATAT others(29): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0046 | 1 | 106 | 0.0094 | 36 | c.247 others(57): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | chr20 | TogoVar | ||||||
PLCD4_chr2_218602899_218642175 | 218616927 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 298 | 0.0034 | 36 | c.181 others(51): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLCG2_chr16_81774291_81967685 | 81803558 | C | CTTTCCTT others(29): Show |
intron_variant | MODIFIER | HG01515.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0022 | a0001c0002t0001a0001c0022t0067 | a0001c0002t0001g0212a0001c0022t0067g0219 | 2 | 330 | 0.0061 | 36 | c.193 others(55): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171764878 | A | AGAAAGAA others(29): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177 | 1 | 294 | 0.0034 | 36 | c.-31 others(55): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD3_chr19_40343695_40383485 | 40377360 | T | TGGAGGAG others(29): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 364 | 0.0028 | 36 | c.118 others(53): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PLD5_chr1_242077986_242529697 | 242395062 | T | TATATATG others(29): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(4): Show | a0001c0001t0001g0099a0001c0001t0002g0032a0001c0001t0002g0062others(6): Show | 9 | 188 | 0.0479 | 36 | c.190 others(55): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834449 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0207 | 2 | 300 | 0.0067 | 36 | c.*28 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2647 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834457 | C | CCTGGACT others(29): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0188 | 2 | 300 | 0.0067 | 36 | c.*28 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2639 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834457 | C | CCTGGACT others(29): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 NA18994.hp1 NA18995.hp1 others(1): Show |
a0006a0008 | a0006c0006a0008c0011 | a0006c0006t0001a0008c0011t0002 | a0006c0006t0001g0163a0008c0011t0002g0083a0008c0011t0002g0084others(1): Show | 4 | 300 | 0.0133 | 36 | c.*27 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2639 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834480 | G | GGAGGGGC others(29): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 300 | 0.0033 | 36 | c.*28 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2616 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834641 | C | CTTGGACT others(29): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG03041.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0072a0004c0004t0002g0073a0004c0004t0002g0090 | 3 | 300 | 0.0100 | 36 | c.*26 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2455 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834707 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0135a0002c0002t0003g0238 | 2 | 300 | 0.0067 | 36 | c.*25 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2389 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48834818 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057a0002c0002t0002g0064 | 2 | 300 | 0.0067 | 36 | c.*24 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2278 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48835075 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG03139.hp2 |
a0002a0017 | a0002c0002a0017c0018 | a0002c0002t0002a0017c0018t0002 | a0002c0002t0002g0057a0002c0002t0002g0064a0017c0018t0002g0031 | 3 | 300 | 0.0100 | 36 | c.*22 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2021 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48835112 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 300 | 0.0033 | 36 | c.*21 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 1984 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48835259 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 300 | 0.0033 | 36 | c.*20 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 1837 | chr19 | TogoVar | ||||||
PLEKHA4_chr19_48832097_48873617 | 48835296 | G | GCTGAGGT others(29): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02698.hp2 HG03579.hp1 others(2): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0006a0003c0003t0020a0005c0005t0009 | a0003c0003t0006g0233a0003c0003t0006g0234a0003c0003t0020g0259others(2): Show | 5 | 300 | 0.0167 | 36 | c.*19 others(47): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 1800 | chr19 | TogoVar | ||||||
PLEKHA5_chr12_19124733_19381400 | 19231604 | A | ATATGTAT others(29): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01169.hp2 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0154others(45): Show | 48 | 316 | 0.1519 | 36 | c.228 others(55): Show |
PLEKHA5 | ENSG00000052126.17 | transcript | ENST00000429027.7 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHA7_chr11_16772297_17019414 | 16906302 | T | TCCTCCTC others(29): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG00735.hp1 others(71): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0002g0006a0001c0001t0002g0014a0001c0001t0002g0095others(71): Show | 74 | 244 | 0.3033 | 36 | c.222 others(55): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 16906313 | C | CTCTCCCT others(29): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 244 | 0.0041 | 36 | c.222 others(55): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
PLEKHA7_chr11_16772297_17019414 | 17015877 | C | CCATACAC others(29): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0016 | 1 | 244 | 0.0041 | 36 | c.-14 others(47): Show |
PLEKHA7 | ENSG00000166689.18 | transcript | ENST00000531066.6 | protein_coding | 1464 | chr11 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150628575 | C | CACACACA others(29): Show |
intron_variant | MODIFIER | HG01258.hp1 NA19003.hp1 |
a0001a0002 | a0001c0008a0002c0009 | a0001c0008t0003a0002c0009t0001 | a0001c0008t0003g0029a0002c0009t0001g0220 | 2 | 272 | 0.0074 | 36 | c.-15 others(57): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150671088 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0014 | a0014c0032 | a0014c0032t0024 | a0014c0032t0024g0211 | 1 | 272 | 0.0037 | 36 | c.-99 others(55): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150804175 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0013 | a0001c0013t0006 | a0001c0013t0006g0189 | 1 | 272 | 0.0037 | 36 | c.781 others(51): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG1_chr6_150594885_150848665 | 150810514 | A | AAAAGAAA others(29): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0087 | 1 | 272 | 0.0037 | 36 | c.127 others(53): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 91218 | T | TGCTGCAT others(29): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01099.hp1 others(15): Show |
a0001a0008a0011others(10): Show | a0001c0011a0008c0025a0008c0079others(14): Show | a0001c0011t0048a0008c0025t0069a0008c0079t0068others(15): Show | a0001c0011t0048g0179a0008c0025t0069g0174a0008c0079t0068g0173others(15): Show | 18 | 210 | 0.0857 | 36 | c.-10 others(47): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 949 | chr5 | TogoVar | ||||||
PLEKHG5_chr1_6462122_6496667 | 6469124 | C | CCTCTTCC others(29): Show |
conservative_inframe_insertion | MODERATE | HG02630.hp1 | a0014 | a0014c0036 | a0014c0036t0001 | a0014c0036t0001g0102 | 1 | 288 | 0.0035 | 36 | c.216 others(45): Show |
p.Glu others(49): Show |
PLEKHG5 | ENSG00000171680.23 | transcript | ENST00000377728.8 | protein_coding | 19/21 | 2284/3580 | 2166/3021 | 722/1006 | chr1 | TogoVar | ||
PLEKHG7_chr12_92697989_92777455 | 92737745 | G | GAGGAAGG others(29): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0012 | a0012c0026 | a0012c0026t0017 | a0012c0026t0017g0022 | 1 | 252 | 0.0040 | 36 | c.939 others(51): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHH2_chr2_43632260_43772987 | 43636568 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0215 | 1 | 256 | 0.0039 | 36 | c.-81 others(45): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 691 | chr2 | TogoVar |